Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.11750164_11750166delCA459311217GATA4c.837_839del (p.Thr280del)
c.840_842del (p.Thr281del)
c.219_221del (p.Thr74del)
c.834_836del (p.Thr279del)
c.165+1079_165+1081del (n.165+1079_165+1081del)
 dbSNP gnomAD v2 gnomAD v4
8g.11750166C>ACA370313011GATA4c.839C>A (p.Thr280Lys)
c.842C>A (p.Thr281Lys)
c.221C>A (p.Thr74Lys)
c.836C>A (p.Thr279Lys)
c.165+1081C>A (n.165+1081C>A)
8g.11750166C=CA1764081173GATA4c.839C= (p.Thr280=)
c.842C= (p.Thr281=)
c.221C= (p.Thr74=)
c.836C= (p.Thr279=)
c.165+1081C= (n.165+1081C=)
8g.11750166C>GCA370313012GATA4c.839C>G (p.Thr280Arg)
c.842C>G (p.Thr281Arg)
c.221C>G (p.Thr74Arg)
c.836C>G (p.Thr279Arg)
c.165+1081C>G (n.165+1081C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750166C>TCA212675GATA4c.839C>T (p.Thr280Met)
c.842C>T (p.Thr281Met)
c.221C>T (p.Thr74Met)
c.836C>T (p.Thr279Met)
c.165+1081C>T (n.165+1081C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11750167G>ACA4630717GATA4c.840G>A (p.Thr280=)
c.843G>A (p.Thr281=)
c.222G>A (p.Thr74=)
c.837G>A (p.Thr279=)
c.165+1082G>A (n.165+1082G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750167G>CCA459311251GATA4c.840G>C (p.Thr280=)
c.843G>C (p.Thr281=)
c.222G>C (p.Thr74=)
c.837G>C (p.Thr279=)
c.165+1082G>C (n.165+1082G>C)
 gnomAD v4 COSMIC
8g.11750167G=CA1764081180GATA4c.840G= (p.Thr280=)
c.843G= (p.Thr281=)
c.222G= (p.Thr74=)
c.837G= (p.Thr279=)
c.165+1082G= (n.165+1082G=)
8g.11750167G>TCA459311249GATA4c.840G>T (p.Thr280=)
c.843G>T (p.Thr281=)
c.222G>T (p.Thr74=)
c.837G>T (p.Thr279=)
c.165+1082G>T (n.165+1082G>T)
8g.11750168C>ACA370313013GATA4c.841C>A (p.Leu281Met)
c.844C>A (p.Leu282Met)
c.223C>A (p.Leu75Met)
c.838C>A (p.Leu280Met)
c.165+1083C>A (n.165+1083C>A)
 dbSNP gnomAD v2
8g.11750168C=CA1764081184GATA4c.841C= (p.Leu281=)
c.844C= (p.Leu282=)
c.223C= (p.Leu75=)
c.838C= (p.Leu280=)
c.165+1083C= (n.165+1083C=)
8g.11750168C>GCA370313014GATA4c.841C>G (p.Leu281Val)
c.844C>G (p.Leu282Val)
c.223C>G (p.Leu75Val)
c.838C>G (p.Leu280Val)
c.165+1083C>G (n.165+1083C>G)
8g.11750168C>TCA459311254GATA4c.841C>T (p.Leu281=)
c.844C>T (p.Leu282=)
c.223C>T (p.Leu75=)
c.838C>T (p.Leu280=)
c.165+1083C>T (n.165+1083C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11750169T>ACA370313015GATA4c.842T>A (p.Leu281Gln)
c.845T>A (p.Leu282Gln)
c.224T>A (p.Leu75Gln)
c.839T>A (p.Leu280Gln)
c.165+1084T>A (n.165+1084T>A)
8g.11750169T>CCA370313017GATA4c.842T>C (p.Leu281Pro)
c.845T>C (p.Leu282Pro)
c.224T>C (p.Leu75Pro)
c.839T>C (p.Leu280Pro)
c.165+1084T>C (n.165+1084T>C)
8g.11750169T>GCA370313016GATA4c.842T>G (p.Leu281Arg)
c.845T>G (p.Leu282Arg)
c.224T>G (p.Leu75Arg)
c.839T>G (p.Leu280Arg)
c.165+1084T>G (n.165+1084T>G)
8g.11750170G>ACA4630718GATA4c.843G>A (p.Leu281=)
c.846G>A (p.Leu282=)
c.225G>A (p.Leu75=)
c.840G>A (p.Leu280=)
c.165+1085G>A (n.165+1085G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750170G>CCA459311260GATA4c.843G>C (p.Leu281=)
c.846G>C (p.Leu282=)
c.225G>C (p.Leu75=)
c.840G>C (p.Leu280=)
c.165+1085G>C (n.165+1085G>C)
 ClinVar
8g.11750170G=CA1764081188GATA4c.843G= (p.Leu281=)
c.846G= (p.Leu282=)
c.225G= (p.Leu75=)
c.840G= (p.Leu280=)
c.165+1085G= (n.165+1085G=)
8g.11750170G>TCA459311262GATA4c.843G>T (p.Leu281=)
c.846G>T (p.Leu282=)
c.225G>T (p.Leu75=)
c.840G>T (p.Leu280=)
c.165+1085G>T (n.165+1085G>T)
8g.11750171T>ACA370313018GATA4c.844T>A (p.Trp282Arg)
c.847T>A (p.Trp283Arg)
c.226T>A (p.Trp76Arg)
c.841T>A (p.Trp281Arg)
c.165+1086T>A (n.165+1086T>A)
8g.11750171T>CCA370313019GATA4c.844T>C (p.Trp282Arg)
c.847T>C (p.Trp283Arg)
c.226T>C (p.Trp76Arg)
c.841T>C (p.Trp281Arg)
c.165+1086T>C (n.165+1086T>C)
8g.11750171T>GCA370313020GATA4c.844T>G (p.Trp282Gly)
c.847T>G (p.Trp283Gly)
c.226T>G (p.Trp76Gly)
c.841T>G (p.Trp281Gly)
c.165+1086T>G (n.165+1086T>G)
8g.11750172G>ACA370313021GATA4c.845G>A (p.Trp282Ter)
c.848G>A (p.Trp283Ter)
c.227G>A (p.Trp76Ter)
c.842G>A (p.Trp281Ter)
c.165+1087G>A (n.165+1087G>A)
8g.11750172G>CCA370313022GATA4c.845G>C (p.Trp282Ser)
c.848G>C (p.Trp283Ser)
c.227G>C (p.Trp76Ser)
c.842G>C (p.Trp281Ser)
c.165+1087G>C (n.165+1087G>C)
8g.11750172G>TCA370313023GATA4c.845G>T (p.Trp282Leu)
c.848G>T (p.Trp283Leu)
c.227G>T (p.Trp76Leu)
c.842G>T (p.Trp281Leu)
c.165+1087G>T (n.165+1087G>T)
8g.11750173G>ACA370313024GATA4c.846G>A (p.Trp282Ter)
c.849G>A (p.Trp283Ter)
c.228G>A (p.Trp76Ter)
c.843G>A (p.Trp281Ter)
c.165+1088G>A (n.165+1088G>A)
8g.11750173G>CCA370313025GATA4c.846G>C (p.Trp282Cys)
c.849G>C (p.Trp283Cys)
c.228G>C (p.Trp76Cys)
c.843G>C (p.Trp281Cys)
c.165+1088G>C (n.165+1088G>C)
8g.11750173G>TCA370313026GATA4c.846G>T (p.Trp282Cys)
c.849G>T (p.Trp283Cys)
c.228G>T (p.Trp76Cys)
c.843G>T (p.Trp281Cys)
c.165+1088G>T (n.165+1088G>T)
8g.11750174C>ACA370313029GATA4c.847C>A (p.Arg283Ser)
c.850C>A (p.Arg284Ser)
c.229C>A (p.Arg77Ser)
c.844C>A (p.Arg282Ser)
c.165+1089C>A (n.165+1089C>A)
8g.11750174C>GCA370313028GATA4c.847C>G (p.Arg283Gly)
c.850C>G (p.Arg284Gly)
c.229C>G (p.Arg77Gly)
c.844C>G (p.Arg282Gly)
c.165+1089C>G (n.165+1089C>G)
8g.11750174C>TCA370313027GATA4c.847C>T (p.Arg283Cys)
c.850C>T (p.Arg284Cys)
c.229C>T (p.Arg77Cys)
c.844C>T (p.Arg282Cys)
c.165+1089C>T (n.165+1089C>T)
 gnomAD v4
8g.11750175G>ACA172114436GATA4c.848G>A (p.Arg283His)
c.851G>A (p.Arg284His)
c.230G>A (p.Arg77His)
c.845G>A (p.Arg282His)
c.165+1090G>A (n.165+1090G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11750175G>CCA370313030GATA4c.848G>C (p.Arg283Pro)
c.851G>C (p.Arg284Pro)
c.230G>C (p.Arg77Pro)
c.845G>C (p.Arg282Pro)
c.165+1090G>C (n.165+1090G>C)
8g.11750175G=CA1764081191GATA4c.848G= (p.Arg283=)
c.851G= (p.Arg284=)
c.230G= (p.Arg77=)
c.845G= (p.Arg282=)
c.165+1090G= (n.165+1090G=)
8g.11750175G>TCA370313031GATA4c.848G>T (p.Arg283Leu)
c.851G>T (p.Arg284Leu)
c.230G>T (p.Arg77Leu)
c.845G>T (p.Arg282Leu)
c.165+1090G>T (n.165+1090G>T)
8g.11750176C>ACA459311277GATA4c.849C>A (p.Arg283=)
c.852C>A (p.Arg284=)
c.231C>A (p.Arg77=)
c.846C>A (p.Arg282=)
c.165+1091C>A (n.165+1091C>A)
 gnomAD v4
8g.11750176C=CA1764081194GATA4c.849C= (p.Arg283=)
c.852C= (p.Arg284=)
c.231C= (p.Arg77=)
c.846C= (p.Arg282=)
c.165+1091C= (n.165+1091C=)
8g.11750176C>GCA4630719GATA4c.849C>G (p.Arg283=)
c.852C>G (p.Arg284=)
c.231C>G (p.Arg77=)
c.846C>G (p.Arg282=)
c.165+1091C>G (n.165+1091C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750176C>TCA459311275GATA4c.849C>T (p.Arg283=)
c.852C>T (p.Arg284=)
c.231C>T (p.Arg77=)
c.846C>T (p.Arg282=)
c.165+1091C>T (n.165+1091C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750177C>ACA370313032GATA4c.850C>A (p.Arg284Ser)
c.853C>A (p.Arg285Ser)
c.232C>A (p.Arg78Ser)
c.847C>A (p.Arg283Ser)
c.165+1092C>A (n.165+1092C>A)
 dbSNP
8g.11750177C>GCA370313033GATA4c.850C>G (p.Arg284Gly)
c.853C>G (p.Arg285Gly)
c.232C>G (p.Arg78Gly)
c.847C>G (p.Arg283Gly)
c.165+1092C>G (n.165+1092C>G)
8g.11750177C>TCA370313034GATA4c.850C>T (p.Arg284Cys)
c.853C>T (p.Arg285Cys)
c.232C>T (p.Arg78Cys)
c.847C>T (p.Arg283Cys)
c.165+1092C>T (n.165+1092C>T)
 ClinVar
8g.11750178G>ACA370313035GATA4c.851G>A (p.Arg284His)
c.854G>A (p.Arg285His)
c.233G>A (p.Arg78His)
c.848G>A (p.Arg283His)
c.165+1093G>A (n.165+1093G>A)
 ClinVar dbSNP
8g.11750178G>CCA370313036GATA4c.851G>C (p.Arg284Pro)
c.854G>C (p.Arg285Pro)
c.233G>C (p.Arg78Pro)
c.848G>C (p.Arg283Pro)
c.165+1093G>C (n.165+1093G>C)
8g.11750178G>TCA370313037GATA4c.851G>T (p.Arg284Leu)
c.854G>T (p.Arg285Leu)
c.233G>T (p.Arg78Leu)
c.848G>T (p.Arg283Leu)
c.165+1093G>T (n.165+1093G>T)
8g.11750178_11750180delCA2573102939GATA4c.851_853del (p.Arg284_Asn285delinsHis)
c.854_856del (p.Arg285_Asn286delinsHis)
c.233_235del (p.Arg78_Asn79delinsHis)
c.848_850del (p.Arg283_Asn284delinsHis)
c.165+1093_165+1095del (n.165+1093_165+1095del)
 ClinVar
8g.11750179C>ACA459311283GATA4c.852C>A (p.Arg284=)
c.855C>A (p.Arg285=)
c.234C>A (p.Arg78=)
c.849C>A (p.Arg283=)
c.165+1094C>A (n.165+1094C>A)
8g.11750179C=CA1764081197GATA4c.852C= (p.Arg284=)
c.855C= (p.Arg285=)
c.234C= (p.Arg78=)
c.849C= (p.Arg283=)
c.165+1094C= (n.165+1094C=)
8g.11750179C>GCA459311285GATA4c.852C>G (p.Arg284=)
c.855C>G (p.Arg285=)
c.234C>G (p.Arg78=)
c.849C>G (p.Arg283=)
c.165+1094C>G (n.165+1094C>G)
8g.11750179C>TCA4630720GATA4c.852C>T (p.Arg284=)
c.855C>T (p.Arg285=)
c.234C>T (p.Arg78=)
c.849C>T (p.Arg283=)
c.165+1094C>T (n.165+1094C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750180A>CCA370313039GATA4c.853A>C (p.Asn285His)
c.856A>C (p.Asn286His)
c.235A>C (p.Asn79His)
c.850A>C (p.Asn284His)
c.165+1095A>C (n.165+1095A>C)
8g.11750180A>GCA370313040GATA4c.853A>G (p.Asn285Asp)
c.856A>G (p.Asn286Asp)
c.235A>G (p.Asn79Asp)
c.850A>G (p.Asn284Asp)
c.165+1095A>G (n.165+1095A>G)
8g.11750180A>TCA370313038GATA4c.853A>T (p.Asn285Tyr)
c.856A>T (p.Asn286Tyr)
c.235A>T (p.Asn79Tyr)
c.850A>T (p.Asn284Tyr)
c.165+1095A>T (n.165+1095A>T)
8g.11750181A>CCA370313041GATA4c.854A>C (p.Asn285Thr)
c.857A>C (p.Asn286Thr)
c.236A>C (p.Asn79Thr)
c.851A>C (p.Asn284Thr)
c.165+1096A>C (n.165+1096A>C)
8g.11750181A>GCA370313042GATA4c.854A>G (p.Asn285Ser)
c.857A>G (p.Asn286Ser)
c.236A>G (p.Asn79Ser)
c.851A>G (p.Asn284Ser)
c.165+1096A>G (n.165+1096A>G)
8g.11750181A>TCA370313043GATA4c.854A>T (p.Asn285Ile)
c.857A>T (p.Asn286Ile)
c.236A>T (p.Asn79Ile)
c.851A>T (p.Asn284Ile)
c.165+1096A>T (n.165+1096A>T)
8g.11750182T>ACA370313044GATA4c.855T>A (p.Asn285Lys)
c.858T>A (p.Asn286Lys)
c.237T>A (p.Asn79Lys)
c.852T>A (p.Asn284Lys)
c.165+1097T>A (n.165+1097T>A)
8g.11750182T>CCA4630721GATA4c.855T>C (p.Asn285=)
c.858T>C (p.Asn286=)
c.237T>C (p.Asn79=)
c.852T>C (p.Asn284=)
c.165+1097T>C (n.165+1097T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750182T>GCA370313045GATA4c.855T>G (p.Asn285Lys)
c.858T>G (p.Asn286Lys)
c.237T>G (p.Asn79Lys)
c.852T>G (p.Asn284Lys)
c.165+1097T>G (n.165+1097T>G)
8g.11750182T=CA1764081200GATA4c.855T= (p.Asn285=)
c.858T= (p.Asn286=)
c.237T= (p.Asn79=)
c.852T= (p.Asn284=)
c.165+1097T= (n.165+1097T=)
8g.11750183G>ACA370313046GATA4c.856G>A (p.Ala286Thr)
c.859G>A (p.Ala287Thr)
c.238G>A (p.Ala80Thr)
c.853G>A (p.Ala285Thr)
c.165+1098G>A (n.165+1098G>A)
8g.11750183G>CCA370313047GATA4c.856G>C (p.Ala286Pro)
c.859G>C (p.Ala287Pro)
c.238G>C (p.Ala80Pro)
c.853G>C (p.Ala285Pro)
c.165+1098G>C (n.165+1098G>C)
8g.11750183G>TCA370313048GATA4c.856G>T (p.Ala286Ser)
c.859G>T (p.Ala287Ser)
c.238G>T (p.Ala80Ser)
c.853G>T (p.Ala285Ser)
c.165+1098G>T (n.165+1098G>T)
8g.11750184C>ACA370313049GATA4c.857C>A (p.Ala286Glu)
c.860C>A (p.Ala287Glu)
c.239C>A (p.Ala80Glu)
c.854C>A (p.Ala285Glu)
c.165+1099C>A (n.165+1099C>A)
 gnomAD v4
8g.11750184C=CA1764081203GATA4c.857C= (p.Ala286=)
c.860C= (p.Ala287=)
c.239C= (p.Ala80=)
c.854C= (p.Ala285=)
c.165+1099C= (n.165+1099C=)
8g.11750184C>GCA370313050GATA4c.857C>G (p.Ala286Gly)
c.860C>G (p.Ala287Gly)
c.239C>G (p.Ala80Gly)
c.854C>G (p.Ala285Gly)
c.165+1099C>G (n.165+1099C>G)
8g.11750184C>TCA4630722GATA4c.857C>T (p.Ala286Val)
c.860C>T (p.Ala287Val)
c.239C>T (p.Ala80Val)
c.854C>T (p.Ala285Val)
c.165+1099C>T (n.165+1099C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750185G>ACA4630723GATA4c.858G>A (p.Ala286=)
c.861G>A (p.Ala287=)
c.240G>A (p.Ala80=)
c.855G>A (p.Ala285=)
c.165+1100G>A (n.165+1100G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11750185G>CCA459311301GATA4c.858G>C (p.Ala286=)
c.861G>C (p.Ala287=)
c.240G>C (p.Ala80=)
c.855G>C (p.Ala285=)
c.165+1100G>C (n.165+1100G>C)
8g.11750185G=CA1764081210GATA4c.858G= (p.Ala286=)
c.861G= (p.Ala287=)
c.240G= (p.Ala80=)
c.855G= (p.Ala285=)
c.165+1100G= (n.165+1100G=)
8g.11750185G>TCA459311303GATA4c.858G>T (p.Ala286=)
c.861G>T (p.Ala287=)
c.240G>T (p.Ala80=)
c.855G>T (p.Ala285=)
c.165+1100G>T (n.165+1100G>T)
 gnomAD v4
8g.11750186G>ACA370313053GATA4c.859G>A (p.Glu287Lys)
c.862G>A (p.Glu288Lys)
c.241G>A (p.Glu81Lys)
c.856G>A (p.Glu286Lys)
c.165+1101G>A (n.165+1101G>A)
8g.11750186G>CCA370313052GATA4c.859G>C (p.Glu287Gln)
c.862G>C (p.Glu288Gln)
c.241G>C (p.Glu81Gln)
c.856G>C (p.Glu286Gln)
c.165+1101G>C (n.165+1101G>C)
8g.11750186G>TCA370313051GATA4c.859G>T (p.Glu287Ter)
c.862G>T (p.Glu288Ter)
c.241G>T (p.Glu81Ter)
c.856G>T (p.Glu286Ter)
c.165+1101G>T (n.165+1101G>T)
8g.11750187A>CCA370313054GATA4c.860A>C (p.Glu287Ala)
c.863A>C (p.Glu288Ala)
c.242A>C (p.Glu81Ala)
c.857A>C (p.Glu286Ala)
c.165+1102A>C (n.165+1102A>C)
8g.11750187A>GCA370313055GATA4c.860A>G (p.Glu287Gly)
c.863A>G (p.Glu288Gly)
c.242A>G (p.Glu81Gly)
c.857A>G (p.Glu286Gly)
c.165+1102A>G (n.165+1102A>G)
8g.11750187A>TCA370313056GATA4c.860A>T (p.Glu287Val)
c.863A>T (p.Glu288Val)
c.242A>T (p.Glu81Val)
c.857A>T (p.Glu286Val)
c.165+1102A>T (n.165+1102A>T)
8g.11750188G>ACA459311311GATA4c.861G>A (p.Glu287=)
c.864G>A (p.Glu288=)
c.243G>A (p.Glu81=)
c.858G>A (p.Glu286=)
c.165+1103G>A (n.165+1103G>A)
8g.11750188G>CCA370313057GATA4c.861G>C (p.Glu287Asp)
c.864G>C (p.Glu288Asp)
c.243G>C (p.Glu81Asp)
c.858G>C (p.Glu286Asp)
c.165+1103G>C (n.165+1103G>C)
8g.11750188G>TCA370313058GATA4c.861G>T (p.Glu287Asp)
c.864G>T (p.Glu288Asp)
c.243G>T (p.Glu81Asp)
c.858G>T (p.Glu286Asp)
c.165+1103G>T (n.165+1103G>T)
8g.11750189G>ACA370313059GATA4c.862G>A (p.Gly288Ser)
c.865G>A (p.Gly289Ser)
c.244G>A (p.Gly82Ser)
c.859G>A (p.Gly287Ser)
c.165+1104G>A (n.165+1104G>A)
8g.11750189G>CCA370313060GATA4c.862G>C (p.Gly288Arg)
c.865G>C (p.Gly289Arg)
c.244G>C (p.Gly82Arg)
c.859G>C (p.Gly287Arg)
c.165+1104G>C (n.165+1104G>C)
8g.11750189G>TCA370313061GATA4c.862G>T (p.Gly288Cys)
c.865G>T (p.Gly289Cys)
c.244G>T (p.Gly82Cys)
c.859G>T (p.Gly287Cys)
c.165+1104G>T (n.165+1104G>T)
8g.11750190G>ACA370313062GATA4c.863G>A (p.Gly288Asp)
c.866G>A (p.Gly289Asp)
c.245G>A (p.Gly82Asp)
c.860G>A (p.Gly287Asp)
c.165+1105G>A (n.165+1105G>A)
8g.11750190G>CCA370313063GATA4c.863G>C (p.Gly288Ala)
c.866G>C (p.Gly289Ala)
c.245G>C (p.Gly82Ala)
c.860G>C (p.Gly287Ala)
c.165+1105G>C (n.165+1105G>C)
8g.11750190G>TCA370313064GATA4c.863G>T (p.Gly288Val)
c.866G>T (p.Gly289Val)
c.245G>T (p.Gly82Val)
c.860G>T (p.Gly287Val)
c.165+1105G>T (n.165+1105G>T)
8g.11750191C>ACA459311318GATA4c.864C>A (p.Gly288=)
c.867C>A (p.Gly289=)
c.246C>A (p.Gly82=)
c.861C>A (p.Gly287=)
c.165+1106C>A (n.165+1106C>A)
8g.11750191C=CA1764081215GATA4c.864C= (p.Gly288=)
c.867C= (p.Gly289=)
c.246C= (p.Gly82=)
c.861C= (p.Gly287=)
c.165+1106C= (n.165+1106C=)
8g.11750191C>GCA4630725GATA4c.864C>G (p.Gly288=)
c.867C>G (p.Gly289=)
c.246C>G (p.Gly82=)
c.861C>G (p.Gly287=)
c.165+1106C>G (n.165+1106C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750191C>TCA4630724GATA4c.864C>T (p.Gly288=)
c.867C>T (p.Gly289=)
c.246C>T (p.Gly82=)
c.861C>T (p.Gly287=)
c.165+1106C>T (n.165+1106C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750192G>ACA172114452GATA4c.865G>A (p.Glu289Lys)
c.868G>A (p.Glu290Lys)
c.247G>A (p.Glu83Lys)
c.862G>A (p.Glu288Lys)
c.165+1107G>A (n.165+1107G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750192G>CCA370313066GATA4c.865G>C (p.Glu289Gln)
c.868G>C (p.Glu290Gln)
c.247G>C (p.Glu83Gln)
c.862G>C (p.Glu288Gln)
c.165+1107G>C (n.165+1107G>C)
8g.11750192G=CA1764081218GATA4c.865G= (p.Glu289=)
c.868G= (p.Glu290=)
c.247G= (p.Glu83=)
c.862G= (p.Glu288=)
c.165+1107G= (n.165+1107G=)
8g.11750192G>TCA370313065GATA4c.865G>T (p.Glu289Ter)
c.868G>T (p.Glu290Ter)
c.247G>T (p.Glu83Ter)
c.862G>T (p.Glu288Ter)
c.165+1107G>T (n.165+1107G>T)
 gnomAD v4
8g.11750193A>CCA370313068GATA4c.866A>C (p.Glu289Ala)
c.869A>C (p.Glu290Ala)
c.248A>C (p.Glu83Ala)
c.863A>C (p.Glu288Ala)
c.165+1108A>C (n.165+1108A>C)
8g.11750193A>GCA370313067GATA4c.866A>G (p.Glu289Gly)
c.869A>G (p.Glu290Gly)
c.248A>G (p.Glu83Gly)
c.863A>G (p.Glu288Gly)
c.165+1108A>G (n.165+1108A>G)
8g.11750193A>TCA370313069GATA4c.866A>T (p.Glu289Val)
c.869A>T (p.Glu290Val)
c.248A>T (p.Glu83Val)
c.863A>T (p.Glu288Val)
c.165+1108A>T (n.165+1108A>T)
8g.11750194G>ACA459311325GATA4c.867G>A (p.Glu289=)
c.870G>A (p.Glu290=)
c.249G>A (p.Glu83=)
c.864G>A (p.Glu288=)
c.165+1109G>A (n.165+1109G>A)
 gnomAD v4
8g.11750194G>CCA370313070GATA4c.867G>C (p.Glu289Asp)
c.870G>C (p.Glu290Asp)
c.249G>C (p.Glu83Asp)
c.864G>C (p.Glu288Asp)
c.165+1109G>C (n.165+1109G>C)
8g.11750194G>TCA370313071GATA4c.867G>T (p.Glu289Asp)
c.870G>T (p.Glu290Asp)
c.249G>T (p.Glu83Asp)
c.864G>T (p.Glu288Asp)
c.165+1109G>T (n.165+1109G>T)
 ClinVar dbSNP
8g.11750195C>ACA370313072GATA4c.868C>A (p.Pro290Thr)
c.871C>A (p.Pro291Thr)
c.250C>A (p.Pro84Thr)
c.865C>A (p.Pro289Thr)
c.165+1110C>A (n.165+1110C>A)
8g.11750195C>GCA370313073GATA4c.868C>G (p.Pro290Ala)
c.871C>G (p.Pro291Ala)
c.250C>G (p.Pro84Ala)
c.865C>G (p.Pro289Ala)
c.165+1110C>G (n.165+1110C>G)
8g.11750195C>TCA370313074GATA4c.868C>T (p.Pro290Ser)
c.871C>T (p.Pro291Ser)
c.250C>T (p.Pro84Ser)
c.865C>T (p.Pro289Ser)
c.165+1110C>T (n.165+1110C>T)
 COSMIC
8g.11750196C>ACA370313075GATA4c.869C>A (p.Pro290His)
c.872C>A (p.Pro291His)
c.251C>A (p.Pro84His)
c.866C>A (p.Pro289His)
c.165+1111C>A (n.165+1111C>A)
8g.11750196C>GCA370313076GATA4c.869C>G (p.Pro290Arg)
c.872C>G (p.Pro291Arg)
c.251C>G (p.Pro84Arg)
c.866C>G (p.Pro289Arg)
c.165+1111C>G (n.165+1111C>G)
8g.11750196C>TCA370313077GATA4c.869C>T (p.Pro290Leu)
c.872C>T (p.Pro291Leu)
c.251C>T (p.Pro84Leu)
c.866C>T (p.Pro289Leu)
c.165+1111C>T (n.165+1111C>T)
8g.11750197T>ACA459311337GATA4c.870T>A (p.Pro290=)
c.873T>A (p.Pro291=)
c.252T>A (p.Pro84=)
c.867T>A (p.Pro289=)
c.165+1112T>A (n.165+1112T>A)
8g.11750197T>CCA459311335GATA4c.870T>C (p.Pro290=)
c.873T>C (p.Pro291=)
c.252T>C (p.Pro84=)
c.867T>C (p.Pro289=)
c.165+1112T>C (n.165+1112T>C)
 dbSNP gnomAD v4
8g.11750197T>GCA459311334GATA4c.870T>G (p.Pro290=)
c.873T>G (p.Pro291=)
c.252T>G (p.Pro84=)
c.867T>G (p.Pro289=)
c.165+1112T>G (n.165+1112T>G)
8g.11750197T=CA1764081220GATA4c.870T= (p.Pro290=)
c.873T= (p.Pro291=)
c.252T= (p.Pro84=)
c.867T= (p.Pro289=)
c.165+1112T= (n.165+1112T=)
8g.11750198G>ACA370313078GATA4c.871G>A (p.Val291Met)
c.874G>A (p.Val292Met)
c.253G>A (p.Val85Met)
c.868G>A (p.Val290Met)
c.165+1113G>A (n.165+1113G>A)
8g.11750198G>CCA370313079GATA4c.871G>C (p.Val291Leu)
c.874G>C (p.Val292Leu)
c.253G>C (p.Val85Leu)
c.868G>C (p.Val290Leu)
c.165+1113G>C (n.165+1113G>C)
8g.11750198G>TCA370313080GATA4c.871G>T (p.Val291Leu)
c.874G>T (p.Val292Leu)
c.253G>T (p.Val85Leu)
c.868G>T (p.Val290Leu)
c.165+1113G>T (n.165+1113G>T)
8g.11750199T>ACA370313081GATA4c.872T>A (p.Val291Glu)
c.875T>A (p.Val292Glu)
c.254T>A (p.Val85Glu)
c.869T>A (p.Val290Glu)
c.165+1114T>A (n.165+1114T>A)
8g.11750199T>CCA370313082GATA4c.872T>C (p.Val291Ala)
c.875T>C (p.Val292Ala)
c.254T>C (p.Val85Ala)
c.869T>C (p.Val290Ala)
c.165+1114T>C (n.165+1114T>C)
8g.11750199T>GCA370313083GATA4c.872T>G (p.Val291Gly)
c.875T>G (p.Val292Gly)
c.254T>G (p.Val85Gly)
c.869T>G (p.Val290Gly)
c.165+1114T>G (n.165+1114T>G)
8g.11750200G>ACA459311344GATA4c.873G>A (p.Val291=)
c.876G>A (p.Val292=)
c.255G>A (p.Val85=)
c.870G>A (p.Val290=)
c.165+1115G>A (n.165+1115G>A)
 dbSNP gnomAD v2 gnomAD v4
8g.11750200G>CCA459311345GATA4c.873G>C (p.Val291=)
c.876G>C (p.Val292=)
c.255G>C (p.Val85=)
c.870G>C (p.Val290=)
c.165+1115G>C (n.165+1115G>C)
8g.11750200G=CA1764081222GATA4c.873G= (p.Val291=)
c.876G= (p.Val292=)
c.255G= (p.Val85=)
c.870G= (p.Val290=)
c.165+1115G= (n.165+1115G=)
8g.11750200G>TCA459311347GATA4c.873G>T (p.Val291=)
c.876G>T (p.Val292=)
c.255G>T (p.Val85=)
c.870G>T (p.Val290=)
c.165+1115G>T (n.165+1115G>T)
8g.11750201T>ACA370313086GATA4c.874T>A (p.Cys292Ser)
c.877T>A (p.Cys293Ser)
c.256T>A (p.Cys86Ser)
c.871T>A (p.Cys291Ser)
c.165+1116T>A (n.165+1116T>A)
8g.11750201T>CCA370313084GATA4c.874T>C (p.Cys292Arg)
c.877T>C (p.Cys293Arg)
c.256T>C (p.Cys86Arg)
c.871T>C (p.Cys291Arg)
c.165+1116T>C (n.165+1116T>C)
8g.11750201T>GCA370313085GATA4c.874T>G (p.Cys292Gly)
c.877T>G (p.Cys293Gly)
c.256T>G (p.Cys86Gly)
c.871T>G (p.Cys291Gly)
c.165+1116T>G (n.165+1116T>G)
8g.11750202G>ACA370313087GATA4c.875G>A (p.Cys292Tyr)
c.878G>A (p.Cys293Tyr)
c.257G>A (p.Cys86Tyr)
c.872G>A (p.Cys291Tyr)
c.165+1117G>A (n.165+1117G>A)
8g.11750202G>CCA370313088GATA4c.875G>C (p.Cys292Ser)
c.878G>C (p.Cys293Ser)
c.257G>C (p.Cys86Ser)
c.872G>C (p.Cys291Ser)
c.165+1117G>C (n.165+1117G>C)
8g.11750202G>TCA370313089GATA4c.875G>T (p.Cys292Phe)
c.878G>T (p.Cys293Phe)
c.257G>T (p.Cys86Phe)
c.872G>T (p.Cys291Phe)
c.165+1117G>T (n.165+1117G>T)
 COSMIC
8g.11750203C>ACA370313090GATA4c.876C>A (p.Cys292Ter)
c.879C>A (p.Cys293Ter)
c.258C>A (p.Cys86Ter)
c.873C>A (p.Cys291Ter)
c.165+1118C>A (n.165+1118C>A)
8g.11750203C>GCA370313091GATA4c.876C>G (p.Cys292Trp)
c.879C>G (p.Cys293Trp)
c.258C>G (p.Cys86Trp)
c.873C>G (p.Cys291Trp)
c.165+1118C>G (n.165+1118C>G)
 ClinVar dbSNP
8g.11750203C>TCA459311354GATA4c.876C>T (p.Cys292=)
c.879C>T (p.Cys293=)
c.258C>T (p.Cys86=)
c.873C>T (p.Cys291=)
c.165+1118C>T (n.165+1118C>T)
 ClinVar dbSNP
8g.11750204A>CCA370313092GATA4c.877A>C (p.Asn293His)
c.880A>C (p.Asn294His)
c.259A>C (p.Asn87His)
c.874A>C (p.Asn292His)
c.165+1119A>C (n.165+1119A>C)
8g.11750204A>GCA370313093GATA4c.877A>G (p.Asn293Asp)
c.880A>G (p.Asn294Asp)
c.259A>G (p.Asn87Asp)
c.874A>G (p.Asn292Asp)
c.165+1119A>G (n.165+1119A>G)
8g.11750204A>TCA370313094GATA4c.877A>T (p.Asn293Tyr)
c.880A>T (p.Asn294Tyr)
c.259A>T (p.Asn87Tyr)
c.874A>T (p.Asn292Tyr)
c.165+1119A>T (n.165+1119A>T)
8g.11750205A>CCA370313095GATA4c.878A>C (p.Asn293Thr)
c.881A>C (p.Asn294Thr)
c.260A>C (p.Asn87Thr)
c.875A>C (p.Asn292Thr)
c.165+1120A>C (n.165+1120A>C)
8g.11750205A>GCA370313096GATA4c.878A>G (p.Asn293Ser)
c.881A>G (p.Asn294Ser)
c.260A>G (p.Asn87Ser)
c.875A>G (p.Asn292Ser)
c.165+1120A>G (n.165+1120A>G)
8g.11750205A>TCA370313097GATA4c.878A>T (p.Asn293Ile)
c.881A>T (p.Asn294Ile)
c.260A>T (p.Asn87Ile)
c.875A>T (p.Asn292Ile)
c.165+1120A>T (n.165+1120A>T)
8g.11750206T>ACA370313099GATA4c.879T>A (p.Asn293Lys)
c.882T>A (p.Asn294Lys)
c.261T>A (p.Asn87Lys)
c.876T>A (p.Asn292Lys)
c.165+1121T>A (n.165+1121T>A)
8g.11750206T>CCA459311363GATA4c.879T>C (p.Asn293=)
c.882T>C (p.Asn294=)
c.261T>C (p.Asn87=)
c.876T>C (p.Asn292=)
c.165+1121T>C (n.165+1121T>C)
 dbSNP gnomAD v4
8g.11750206T>GCA370313098GATA4c.879T>G (p.Asn293Lys)
c.882T>G (p.Asn294Lys)
c.261T>G (p.Asn87Lys)
c.876T>G (p.Asn292Lys)
c.165+1121T>G (n.165+1121T>G)
8g.11750207G>ACA370313100GATA4c.880G>A (p.Ala294Thr)
c.883G>A (p.Ala295Thr)
c.262G>A (p.Ala88Thr)
c.877G>A (p.Ala293Thr)
c.165+1122G>A (n.165+1122G>A)
8g.11750207G>CCA4630726GATA4c.880G>C (p.Ala294Pro)
c.883G>C (p.Ala295Pro)
c.262G>C (p.Ala88Pro)
c.877G>C (p.Ala293Pro)
c.165+1122G>C (n.165+1122G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750207G=CA1764081227GATA4c.880G= (p.Ala294=)
c.883G= (p.Ala295=)
c.262G= (p.Ala88=)
c.877G= (p.Ala293=)
c.165+1122G= (n.165+1122G=)
8g.11750207G>TCA370313101GATA4c.880G>T (p.Ala294Ser)
c.883G>T (p.Ala295Ser)
c.262G>T (p.Ala88Ser)
c.877G>T (p.Ala293Ser)
c.165+1122G>T (n.165+1122G>T)
 gnomAD v4
8g.11750208C>ACA370313102GATA4c.881C>A (p.Ala294Asp)
c.884C>A (p.Ala295Asp)
c.263C>A (p.Ala88Asp)
c.878C>A (p.Ala293Asp)
c.165+1123C>A (n.165+1123C>A)
8g.11750208C>GCA370313103GATA4c.881C>G (p.Ala294Gly)
c.884C>G (p.Ala295Gly)
c.263C>G (p.Ala88Gly)
c.878C>G (p.Ala293Gly)
c.165+1123C>G (n.165+1123C>G)
8g.11750208C>TCA370313104GATA4c.881C>T (p.Ala294Val)
c.884C>T (p.Ala295Val)
c.263C>T (p.Ala88Val)
c.878C>T (p.Ala293Val)
c.165+1123C>T (n.165+1123C>T)
8g.11750209C>ACA459311369GATA4c.882C>A (p.Ala294=)
c.885C>A (p.Ala295=)
c.264C>A (p.Ala88=)
c.879C>A (p.Ala293=)
c.165+1124C>A (n.165+1124C>A)
8g.11750209C=CA1764081231GATA4c.882C= (p.Ala294=)
c.885C= (p.Ala295=)
c.264C= (p.Ala88=)
c.879C= (p.Ala293=)
c.165+1124C= (n.165+1124C=)
8g.11750209C>GCA459311371GATA4c.882C>G (p.Ala294=)
c.885C>G (p.Ala295=)
c.264C>G (p.Ala88=)
c.879C>G (p.Ala293=)
c.165+1124C>G (n.165+1124C>G)
8g.11750209C>TCA459311373GATA4c.882C>T (p.Ala294=)
c.885C>T (p.Ala295=)
c.264C>T (p.Ala88=)
c.879C>T (p.Ala293=)
c.165+1124C>T (n.165+1124C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750210T>ACA370313105GATA4c.883T>A (p.Cys295Ser)
c.886T>A (p.Cys296Ser)
c.265T>A (p.Cys89Ser)
c.880T>A (p.Cys294Ser)
c.165+1125T>A (n.165+1125T>A)
8g.11750210T>CCA370313106GATA4c.883T>C (p.Cys295Arg)
c.886T>C (p.Cys296Arg)
c.265T>C (p.Cys89Arg)
c.880T>C (p.Cys294Arg)
c.165+1125T>C (n.165+1125T>C)
8g.11750210T>GCA370313107GATA4c.883T>G (p.Cys295Gly)
c.886T>G (p.Cys296Gly)
c.265T>G (p.Cys89Gly)
c.880T>G (p.Cys294Gly)
c.165+1125T>G (n.165+1125T>G)
8g.11750211G>ACA370313108GATA4c.884G>A (p.Cys295Tyr)
c.887G>A (p.Cys296Tyr)
c.266G>A (p.Cys89Tyr)
c.881G>A (p.Cys294Tyr)
c.165+1126G>A (n.165+1126G>A)
8g.11750211G>CCA370313109GATA4c.884G>C (p.Cys295Ser)
c.887G>C (p.Cys296Ser)
c.266G>C (p.Cys89Ser)
c.881G>C (p.Cys294Ser)
c.165+1126G>C (n.165+1126G>C)
 ClinVar
8g.11750211G>TCA370313110GATA4c.884G>T (p.Cys295Phe)
c.887G>T (p.Cys296Phe)
c.266G>T (p.Cys89Phe)
c.881G>T (p.Cys294Phe)
c.165+1126G>T (n.165+1126G>T)
 gnomAD v4
8g.11750212C>ACA370313112GATA4c.885C>A (p.Cys295Ter)
c.888C>A (p.Cys296Ter)
c.267C>A (p.Cys89Ter)
c.882C>A (p.Cys294Ter)
c.165+1127C>A (n.165+1127C>A)
8g.11750212C=CA1764081233GATA4c.885C= (p.Cys295=)
c.888C= (p.Cys296=)
c.267C= (p.Cys89=)
c.882C= (p.Cys294=)
c.165+1127C= (n.165+1127C=)
8g.11750212C>GCA370313111GATA4c.885C>G (p.Cys295Trp)
c.888C>G (p.Cys296Trp)
c.267C>G (p.Cys89Trp)
c.882C>G (p.Cys294Trp)
c.165+1127C>G (n.165+1127C>G)
8g.11750212C>TCA4630727GATA4c.885C>T (p.Cys295=)
c.888C>T (p.Cys296=)
c.267C>T (p.Cys89=)
c.882C>T (p.Cys294=)
c.165+1127C>T (n.165+1127C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750213G>ACA212661GATA4c.886G>A (p.Gly296Ser)
c.889G>A (p.Gly297Ser)
c.268G>A (p.Gly90Ser)
c.883G>A (p.Gly295Ser)
c.165+1128G>A (n.165+1128G>A)
 ClinVar dbSNP
8g.11750213G>CCA212673GATA4c.886G>C (p.Gly296Arg)
c.889G>C (p.Gly297Arg)
c.268G>C (p.Gly90Arg)
c.883G>C (p.Gly295Arg)
c.165+1128G>C (n.165+1128G>C)
 ClinVar dbSNP
8g.11750213G=CA1764081244GATA4c.886G= (p.Gly296=)
c.889G= (p.Gly297=)
c.268G= (p.Gly90=)
c.883G= (p.Gly295=)
c.165+1128G= (n.165+1128G=)
8g.11750213G>TCA212668GATA4c.886G>T (p.Gly296Cys)
c.889G>T (p.Gly297Cys)
c.268G>T (p.Gly90Cys)
c.883G>T (p.Gly295Cys)
c.165+1128G>T (n.165+1128G>T)
 ClinVar dbSNP
8g.11750214G>ACA370313113GATA4c.887G>A (p.Gly296Asp)
c.890G>A (p.Gly297Asp)
c.269G>A (p.Gly90Asp)
c.884G>A (p.Gly295Asp)
c.165+1129G>A (n.165+1129G>A)
8g.11750214G>CCA370313114GATA4c.887G>C (p.Gly296Ala)
c.890G>C (p.Gly297Ala)
c.269G>C (p.Gly90Ala)
c.884G>C (p.Gly295Ala)
c.165+1129G>C (n.165+1129G>C)
8g.11750214G>TCA370313115GATA4c.887G>T (p.Gly296Val)
c.890G>T (p.Gly297Val)
c.269G>T (p.Gly90Val)
c.884G>T (p.Gly295Val)
c.165+1129G>T (n.165+1129G>T)
8g.11750215C>ACA459311387GATA4c.888C>A (p.Gly296=)
c.891C>A (p.Gly297=)
c.270C>A (p.Gly90=)
c.885C>A (p.Gly295=)
c.165+1130C>A (n.165+1130C>A)
8g.11750215C>GCA459311388GATA4c.888C>G (p.Gly296=)
c.891C>G (p.Gly297=)
c.270C>G (p.Gly90=)
c.885C>G (p.Gly295=)
c.165+1130C>G (n.165+1130C>G)
 COSMIC
8g.11750215C>TCA459311390GATA4c.888C>T (p.Gly296=)
c.891C>T (p.Gly297=)
c.270C>T (p.Gly90=)
c.885C>T (p.Gly295=)
c.165+1130C>T (n.165+1130C>T)
 gnomAD v4
8g.11750216C>ACA370313116GATA4c.889C>A (p.Leu297Ile)
c.892C>A (p.Leu298Ile)
c.271C>A (p.Leu91Ile)
c.886C>A (p.Leu296Ile)
c.165+1131C>A (n.165+1131C>A)
8g.11750216C>GCA370313117GATA4c.889C>G (p.Leu297Val)
c.892C>G (p.Leu298Val)
c.271C>G (p.Leu91Val)
c.886C>G (p.Leu296Val)
c.165+1131C>G (n.165+1131C>G)
8g.11750216C>TCA370313118GATA4c.889C>T (p.Leu297Phe)
c.892C>T (p.Leu298Phe)
c.271C>T (p.Leu91Phe)
c.886C>T (p.Leu296Phe)
c.165+1131C>T (n.165+1131C>T)
8g.11750217T>ACA370313119GATA4c.890T>A (p.Leu297His)
c.893T>A (p.Leu298His)
c.272T>A (p.Leu91His)
c.887T>A (p.Leu296His)
c.165+1132T>A (n.165+1132T>A)
8g.11750217T>CCA370313120GATA4c.890T>C (p.Leu297Pro)
c.893T>C (p.Leu298Pro)
c.272T>C (p.Leu91Pro)
c.887T>C (p.Leu296Pro)
c.165+1132T>C (n.165+1132T>C)
8g.11750217T>GCA370313121GATA4c.890T>G (p.Leu297Arg)
c.893T>G (p.Leu298Arg)
c.272T>G (p.Leu91Arg)
c.887T>G (p.Leu296Arg)
c.165+1132T>G (n.165+1132T>G)
8g.11750218C>ACA459311397GATA4c.891C>A (p.Leu297=)
c.894C>A (p.Leu298=)
c.273C>A (p.Leu91=)
c.888C>A (p.Leu296=)
c.165+1133C>A (n.165+1133C>A)
8g.11750218C=CA1764081246GATA4c.891C= (p.Leu297=)
c.894C= (p.Leu298=)
c.273C= (p.Leu91=)
c.888C= (p.Leu296=)
c.165+1133C= (n.165+1133C=)
8g.11750218C>GCA4630728GATA4c.891C>G (p.Leu297=)
c.894C>G (p.Leu298=)
c.273C>G (p.Leu91=)
c.888C>G (p.Leu296=)
c.165+1133C>G (n.165+1133C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750218C>TCA459311399GATA4c.891C>T (p.Leu297=)
c.894C>T (p.Leu298=)
c.273C>T (p.Leu91=)
c.888C>T (p.Leu296=)
c.165+1133C>T (n.165+1133C>T)
8g.11750219T>ACA370313123GATA4c.892T>A (p.Tyr298Asn)
c.895T>A (p.Tyr299Asn)
c.274T>A (p.Tyr92Asn)
c.889T>A (p.Tyr297Asn)
c.165+1134T>A (n.165+1134T>A)
8g.11750219T>CCA370313124GATA4c.892T>C (p.Tyr298His)
c.895T>C (p.Tyr299His)
c.274T>C (p.Tyr92His)
c.889T>C (p.Tyr297His)
c.165+1134T>C (n.165+1134T>C)
8g.11750219T>GCA370313122GATA4c.892T>G (p.Tyr298Asp)
c.895T>G (p.Tyr299Asp)
c.274T>G (p.Tyr92Asp)
c.889T>G (p.Tyr297Asp)
c.165+1134T>G (n.165+1134T>G)
8g.11750220A>CCA370313127GATA4c.893A>C (p.Tyr298Ser)
c.896A>C (p.Tyr299Ser)
c.275A>C (p.Tyr92Ser)
c.890A>C (p.Tyr297Ser)
c.165+1135A>C (n.165+1135A>C)
8g.11750220A>GCA370313125GATA4c.893A>G (p.Tyr298Cys)
c.896A>G (p.Tyr299Cys)
c.275A>G (p.Tyr92Cys)
c.890A>G (p.Tyr297Cys)
c.165+1135A>G (n.165+1135A>G)
 ClinVar
8g.11750220A>TCA370313126GATA4c.893A>T (p.Tyr298Phe)
c.896A>T (p.Tyr299Phe)
c.275A>T (p.Tyr92Phe)
c.890A>T (p.Tyr297Phe)
c.165+1135A>T (n.165+1135A>T)
8g.11750221C>ACA370313128GATA4c.894C>A (p.Tyr298Ter)
c.897C>A (p.Tyr299Ter)
c.276C>A (p.Tyr92Ter)
c.891C>A (p.Tyr297Ter)
c.165+1136C>A (n.165+1136C>A)
8g.11750221C=CA1764081250GATA4c.894C= (p.Tyr298=)
c.897C= (p.Tyr299=)
c.276C= (p.Tyr92=)
c.891C= (p.Tyr297=)
c.165+1136C= (n.165+1136C=)
8g.11750221C>GCA370313129GATA4c.894C>G (p.Tyr298Ter)
c.897C>G (p.Tyr299Ter)
c.276C>G (p.Tyr92Ter)
c.891C>G (p.Tyr297Ter)
c.165+1136C>G (n.165+1136C>G)
8g.11750221C>TCA459311407GATA4c.894C>T (p.Tyr298=)
c.897C>T (p.Tyr299=)
c.276C>T (p.Tyr92=)
c.891C>T (p.Tyr297=)
c.165+1136C>T (n.165+1136C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11750222A=CA1764081252GATA4c.895A= (p.Met299=)
c.898A= (p.Met300=)
c.277A= (p.Met93=)
c.892A= (p.Met298=)
c.165+1137A= (n.165+1137A=)
8g.11750222A>CCA370313130GATA4c.895A>C (p.Met299Leu)
c.898A>C (p.Met300Leu)
c.277A>C (p.Met93Leu)
c.892A>C (p.Met298Leu)
c.165+1137A>C (n.165+1137A>C)
8g.11750222A>GCA370313131GATA4c.895A>G (p.Met299Val)
c.898A>G (p.Met300Val)
c.277A>G (p.Met93Val)
c.892A>G (p.Met298Val)
c.165+1137A>G (n.165+1137A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750222A>TCA370313132GATA4c.895A>T (p.Met299Leu)
c.898A>T (p.Met300Leu)
c.277A>T (p.Met93Leu)
c.892A>T (p.Met298Leu)
c.165+1137A>T (n.165+1137A>T)
8g.11750223T>ACA370313133GATA4c.896T>A (p.Met299Lys)
c.899T>A (p.Met300Lys)
c.278T>A (p.Met93Lys)
c.893T>A (p.Met298Lys)
c.165+1138T>A (n.165+1138T>A)
 dbSNP gnomAD v3 gnomAD v4
8g.11750223T>CCA370313134GATA4c.896T>C (p.Met299Thr)
c.899T>C (p.Met300Thr)
c.278T>C (p.Met93Thr)
c.893T>C (p.Met298Thr)
c.165+1138T>C (n.165+1138T>C)
8g.11750223T>GCA370313135GATA4c.896T>G (p.Met299Arg)
c.899T>G (p.Met300Arg)
c.278T>G (p.Met93Arg)
c.893T>G (p.Met298Arg)
c.165+1138T>G (n.165+1138T>G)
 gnomAD v4
8g.11750223T=CA1764081254GATA4c.896T= (p.Met299=)
c.899T= (p.Met300=)
c.278T= (p.Met93=)
c.893T= (p.Met298=)
c.165+1138T= (n.165+1138T=)
8g.11750224G>ACA370313136GATA4c.897G>A (p.Met299Ile)
c.900G>A (p.Met300Ile)
c.279G>A (p.Met93Ile)
c.894G>A (p.Met298Ile)
c.165+1139G>A (n.165+1139G>A)
8g.11750224G>CCA370313137GATA4c.897G>C (p.Met299Ile)
c.900G>C (p.Met300Ile)
c.279G>C (p.Met93Ile)
c.894G>C (p.Met298Ile)
c.165+1139G>C (n.165+1139G>C)
8g.11750224G=CA1764081258GATA4c.897G= (p.Met299=)
c.900G= (p.Met300=)
c.279G= (p.Met93=)
c.894G= (p.Met298=)
c.165+1139G= (n.165+1139G=)
8g.11750224G>TCA370313138GATA4c.897G>T (p.Met299Ile)
c.900G>T (p.Met300Ile)
c.279G>T (p.Met93Ile)
c.894G>T (p.Met298Ile)
c.165+1139G>T (n.165+1139G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11750225A>CCA370313139GATA4c.898A>C (p.Lys300Gln)
c.901A>C (p.Lys301Gln)
c.280A>C (p.Lys94Gln)
c.895A>C (p.Lys299Gln)
c.165+1140A>C (n.165+1140A>C)
8g.11750225A>GCA370313141GATA4c.898A>G (p.Lys300Glu)
c.901A>G (p.Lys301Glu)
c.280A>G (p.Lys94Glu)
c.895A>G (p.Lys299Glu)
c.165+1140A>G (n.165+1140A>G)
8g.11750225A>TCA370313140GATA4c.898A>T (p.Lys300Ter)
c.901A>T (p.Lys301Ter)
c.280A>T (p.Lys94Ter)
c.895A>T (p.Lys299Ter)
c.165+1140A>T (n.165+1140A>T)
8g.11750226A>CCA370313142GATA4c.899A>C (p.Lys300Thr)
c.902A>C (p.Lys301Thr)
c.281A>C (p.Lys94Thr)
c.896A>C (p.Lys299Thr)
c.165+1141A>C (n.165+1141A>C)
8g.11750226A>GCA370313143GATA4c.899A>G (p.Lys300Arg)
c.902A>G (p.Lys301Arg)
c.281A>G (p.Lys94Arg)
c.896A>G (p.Lys299Arg)
c.165+1141A>G (n.165+1141A>G)
8g.11750226A>TCA370313144GATA4c.899A>T (p.Lys300Met)
c.902A>T (p.Lys301Met)
c.281A>T (p.Lys94Met)
c.896A>T (p.Lys299Met)
c.165+1141A>T (n.165+1141A>T)
8g.11750227G>ACA459311421GATA4c.900G>A (p.Lys300=)
c.903G>A (p.Lys301=)
c.282G>A (p.Lys94=)
c.897G>A (p.Lys299=)
c.165+1142G>A (n.165+1142G>A)
 ClinVar dbSNP gnomAD v4
8g.11750227G>CCA370313145GATA4c.900G>C (p.Lys300Asn)
c.903G>C (p.Lys301Asn)
c.282G>C (p.Lys94Asn)
c.897G>C (p.Lys299Asn)
c.165+1142G>C (n.165+1142G>C)
8g.11750227G=CA1764081262GATA4c.900G= (p.Lys300=)
c.903G= (p.Lys301=)
c.282G= (p.Lys94=)
c.897G= (p.Lys299=)
c.165+1142G= (n.165+1142G=)
8g.11750227G>TCA370313146GATA4c.900G>T (p.Lys300Asn)
c.903G>T (p.Lys301Asn)
c.282G>T (p.Lys94Asn)
c.897G>T (p.Lys299Asn)
c.165+1142G>T (n.165+1142G>T)
 gnomAD v4
8g.11750228C>ACA370313147GATA4c.901C>A (p.Leu301Ile)
c.904C>A (p.Leu302Ile)
c.283C>A (p.Leu95Ile)
c.898C>A (p.Leu300Ile)
c.165+1143C>A (n.165+1143C>A)
8g.11750228C>GCA370313148GATA4c.901C>G (p.Leu301Val)
c.904C>G (p.Leu302Val)
c.283C>G (p.Leu95Val)
c.898C>G (p.Leu300Val)
c.165+1143C>G (n.165+1143C>G)
8g.11750228C>TCA370313149GATA4c.901C>T (p.Leu301Phe)
c.904C>T (p.Leu302Phe)
c.283C>T (p.Leu95Phe)
c.898C>T (p.Leu300Phe)
c.165+1143C>T (n.165+1143C>T)
8g.11750229T>ACA370313150GATA4c.902T>A (p.Leu301His)
c.905T>A (p.Leu302His)
c.284T>A (p.Leu95His)
c.899T>A (p.Leu300His)
c.165+1144T>A (n.165+1144T>A)
8g.11750229T>CCA370313151GATA4c.902T>C (p.Leu301Pro)
c.905T>C (p.Leu302Pro)
c.284T>C (p.Leu95Pro)
c.899T>C (p.Leu300Pro)
c.165+1144T>C (n.165+1144T>C)
8g.11750229T>GCA370313152GATA4c.902T>G (p.Leu301Arg)
c.905T>G (p.Leu302Arg)
c.284T>G (p.Leu95Arg)
c.899T>G (p.Leu300Arg)
c.165+1144T>G (n.165+1144T>G)
8g.11750230C>ACA459311427GATA4c.903C>A (p.Leu301=)
c.906C>A (p.Leu302=)
c.285C>A (p.Leu95=)
c.900C>A (p.Leu300=)
c.165+1145C>A (n.165+1145C>A)
8g.11750230C=CA1764081264GATA4c.903C= (p.Leu301=)
c.906C= (p.Leu302=)
c.285C= (p.Leu95=)
c.900C= (p.Leu300=)
c.165+1145C= (n.165+1145C=)
8g.11750230C>GCA459311428GATA4c.903C>G (p.Leu301=)
c.906C>G (p.Leu302=)
c.285C>G (p.Leu95=)
c.900C>G (p.Leu300=)
c.165+1145C>G (n.165+1145C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.11750230C>TCA459311430GATA4c.903C>T (p.Leu301=)
c.906C>T (p.Leu302=)
c.285C>T (p.Leu95=)
c.900C>T (p.Leu300=)
c.165+1145C>T (n.165+1145C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750231C>ACA370313154GATA4c.904C>A (p.His302Asn)
c.907C>A (p.His303Asn)
c.286C>A (p.His96Asn)
c.901C>A (p.His301Asn)
c.165+1146C>A (n.165+1146C>A)
 gnomAD v4
8g.11750231C>GCA370313155GATA4c.904C>G (p.His302Asp)
c.907C>G (p.His303Asp)
c.286C>G (p.His96Asp)
c.901C>G (p.His301Asp)
c.165+1146C>G (n.165+1146C>G)
8g.11750231C>TCA370313153GATA4c.904C>T (p.His302Tyr)
c.907C>T (p.His303Tyr)
c.286C>T (p.His96Tyr)
c.901C>T (p.His301Tyr)
c.165+1146C>T (n.165+1146C>T)
8g.11750232A>CCA370313156GATA4c.905A>C (p.His302Pro)
c.908A>C (p.His303Pro)
c.287A>C (p.His96Pro)
c.902A>C (p.His301Pro)
c.165+1147A>C (n.165+1147A>C)
8g.11750232A>GCA370313157GATA4c.905A>G (p.His302Arg)
c.908A>G (p.His303Arg)
c.287A>G (p.His96Arg)
c.902A>G (p.His301Arg)
c.165+1147A>G (n.165+1147A>G)
8g.11750232A>TCA370313158GATA4c.905A>T (p.His302Leu)
c.908A>T (p.His303Leu)
c.287A>T (p.His96Leu)
c.902A>T (p.His301Leu)
c.165+1147A>T (n.165+1147A>T)
8g.11750233C>ACA370313159GATA4c.906C>A (p.His302Gln)
c.909C>A (p.His303Gln)
c.288C>A (p.His96Gln)
c.903C>A (p.His301Gln)
c.165+1148C>A (n.165+1148C>A)
8g.11750233C=CA1764081267GATA4c.906C= (p.His302=)
c.909C= (p.His303=)
c.288C= (p.His96=)
c.903C= (p.His301=)
c.165+1148C= (n.165+1148C=)
8g.11750233C>GCA370313160GATA4c.906C>G (p.His302Gln)
c.909C>G (p.His303Gln)
c.288C>G (p.His96Gln)
c.903C>G (p.His301Gln)
c.165+1148C>G (n.165+1148C>G)
8g.11750233C>TCA4630729GATA4c.906C>T (p.His302=)
c.909C>T (p.His303=)
c.288C>T (p.His96=)
c.903C>T (p.His301=)
c.165+1148C>T (n.165+1148C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750234G>ACA370313161GATA4c.907G>A (p.Gly303Arg)
c.910G>A (p.Gly304Arg)
c.289G>A (p.Gly97Arg)
c.904G>A (p.Gly302Arg)
c.165+1149G>A (n.165+1149G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750234G>CCA370313162GATA4c.907G>C (p.Gly303Arg)
c.910G>C (p.Gly304Arg)
c.289G>C (p.Gly97Arg)
c.904G>C (p.Gly302Arg)
c.165+1149G>C (n.165+1149G>C)
8g.11750234G=CA1764081272GATA4c.907G= (p.Gly303=)
c.910G= (p.Gly304=)
c.289G= (p.Gly97=)
c.904G= (p.Gly302=)
c.165+1149G= (n.165+1149G=)
8g.11750234G>TCA370313163GATA4c.907G>T (p.Gly303Trp)
c.910G>T (p.Gly304Trp)
c.289G>T (p.Gly97Trp)
c.904G>T (p.Gly302Trp)
c.165+1149G>T (n.165+1149G>T)
 gnomAD v4
8g.11750237delCA2686137363GATA4c.909+1del
c.912+1del
c.291+1del
c.906+1del
c.165+1152del (n.165+1152del)
 gnomAD v4
8g.11750235G>ACA370313164GATA4c.908G>A (p.Gly303Glu)
c.911G>A (p.Gly304Glu)
c.290G>A (p.Gly97Glu)
c.905G>A (p.Gly302Glu)
c.165+1150G>A (n.165+1150G>A)
8g.11750235G>CCA370313165GATA4c.908G>C (p.Gly303Ala)
c.911G>C (p.Gly304Ala)
c.290G>C (p.Gly97Ala)
c.905G>C (p.Gly302Ala)
c.165+1150G>C (n.165+1150G>C)
8g.11750235G>TCA370313166GATA4c.908G>T (p.Gly303Val)
c.911G>T (p.Gly304Val)
c.290G>T (p.Gly97Val)
c.905G>T (p.Gly302Val)
c.165+1150G>T (n.165+1150G>T)
8g.11750236G>ACA4630730GATA4c.909G>A (p.Gly303=)
c.912G>A (p.Gly304=)
c.291G>A (p.Gly97=)
c.906G>A (p.Gly302=)
c.165+1151G>A (n.165+1151G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750236G>CCA459311436GATA4c.909G>C (p.Gly303=)
c.912G>C (p.Gly304=)
c.291G>C (p.Gly97=)
c.906G>C (p.Gly302=)
c.165+1151G>C (n.165+1151G>C)
8g.11750236G=CA1764081274GATA4c.909G= (p.Gly303=)
c.912G= (p.Gly304=)
c.291G= (p.Gly97=)
c.906G= (p.Gly302=)
c.165+1151G= (n.165+1151G=)
8g.11750236G>TCA459311435GATA4c.909G>T (p.Gly303=)
c.912G>T (p.Gly304=)
c.291G>T (p.Gly97=)
c.906G>T (p.Gly302=)
c.165+1151G>T (n.165+1151G>T)
8g.11750237G>ACA370313168GATA4c.909+1G>A (n.909+1G>A)
c.912+1G>A (n.912+1G>A)
c.291+1G>A (n.291+1G>A)
c.906+1G>A (n.906+1G>A)
c.165+1152G>A (n.165+1152G>A)
8g.11750237G>CCA370313169GATA4c.909+1G>C (n.909+1G>C)
c.912+1G>C (n.912+1G>C)
c.291+1G>C (n.291+1G>C)
c.906+1G>C (n.906+1G>C)
c.165+1152G>C (n.165+1152G>C)
8g.11750237G>TCA370313167GATA4c.909+1G>T (n.909+1G>T)
c.912+1G>T (n.912+1G>T)
c.291+1G>T (n.291+1G>T)
c.906+1G>T (n.906+1G>T)
c.165+1152G>T (n.165+1152G>T)
 COSMIC
8g.11750238T>ACA370313170GATA4c.909+2T>A (n.909+2T>A)
c.912+2T>A (n.912+2T>A)
c.291+2T>A (n.291+2T>A)
c.906+2T>A (n.906+2T>A)
c.165+1153T>A (n.165+1153T>A)
8g.11750238T>CCA370313171GATA4c.909+2T>C (n.909+2T>C)
c.912+2T>C (n.912+2T>C)
c.291+2T>C (n.291+2T>C)
c.906+2T>C (n.906+2T>C)
c.165+1153T>C (n.165+1153T>C)
8g.11750238T>GCA370313172GATA4c.909+2T>G (n.909+2T>G)
c.912+2T>G (n.912+2T>G)
c.291+2T>G (n.291+2T>G)
c.906+2T>G (n.906+2T>G)
c.165+1153T>G (n.165+1153T>G)
8g.11750239A=CA1764081276GATA4c.909+3A= (n.909+3A=)
c.912+3A= (n.912+3A=)
c.291+3A= (n.291+3A=)
c.906+3A= (n.906+3A=)
c.165+1154A= (n.165+1154A=)
8g.11750239A>GCA579787892GATA4c.909+3A>G (n.909+3A>G)
c.912+3A>G (n.912+3A>G)
c.291+3A>G (n.291+3A>G)
c.906+3A>G (n.906+3A>G)
c.165+1154A>G (n.165+1154A>G)
 dbSNP gnomAD v2
8g.11750240C>ACA4630731GATA4c.909+4C>A (n.909+4C>A)
c.912+4C>A (n.912+4C>A)
c.291+4C>A (n.291+4C>A)
c.906+4C>A (n.906+4C>A)
c.165+1155C>A (n.165+1155C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750240C=CA1764081282GATA4c.909+4C= (n.909+4C=)
c.912+4C= (n.912+4C=)
c.291+4C= (n.291+4C=)
c.906+4C= (n.906+4C=)
c.165+1155C= (n.165+1155C=)
8g.11750240C>TCA4630732GATA4c.909+4C>T (n.909+4C>T)
c.912+4C>T (n.912+4C>T)
c.291+4C>T (n.291+4C>T)
c.906+4C>T (n.906+4C>T)
c.165+1155C>T (n.165+1155C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750241G>ACA579787897GATA4c.909+5G>A (n.909+5G>A)
c.912+5G>A (n.912+5G>A)
c.291+5G>A (n.291+5G>A)
c.906+5G>A (n.906+5G>A)
c.165+1156G>A (n.165+1156G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750241G=CA1764081285GATA4c.909+5G= (n.909+5G=)
c.912+5G= (n.912+5G=)
c.291+5G= (n.291+5G=)
c.906+5G= (n.906+5G=)
c.165+1156G= (n.165+1156G=)
8g.11750241G>TCA4630733GATA4c.909+5G>T (n.909+5G>T)
c.912+5G>T (n.912+5G>T)
c.291+5G>T (n.291+5G>T)
c.906+5G>T (n.906+5G>T)
c.165+1156G>T (n.165+1156G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750243G>ACA2686137364GATA4c.909+7G>A (n.909+7G>A)
c.912+7G>A (n.912+7G>A)
c.291+7G>A (n.291+7G>A)
c.906+7G>A (n.906+7G>A)
c.165+1158G>A (n.165+1158G>A)
 gnomAD v4
8g.11750243G>CCA4630734GATA4c.909+7G>C (n.909+7G>C)
c.912+7G>C (n.912+7G>C)
c.291+7G>C (n.291+7G>C)
c.906+7G>C (n.906+7G>C)
c.165+1158G>C (n.165+1158G>C)
 ClinVar dbSNP ExAC gnomAD v4
8g.11750243G=CA1764081289GATA4c.909+7G= (n.909+7G=)
c.912+7G= (n.912+7G=)
c.291+7G= (n.291+7G=)
c.906+7G= (n.906+7G=)
c.165+1158G= (n.165+1158G=)
8g.11750243G>TCA4630735GATA4c.909+7G>T (n.909+7G>T)
c.912+7G>T (n.912+7G>T)
c.291+7G>T (n.291+7G>T)
c.906+7G>T (n.906+7G>T)
c.165+1158G>T (n.165+1158G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750244G>CCA1110740198GATA4c.909+8G>C (n.909+8G>C)
c.912+8G>C (n.912+8G>C)
c.291+8G>C (n.291+8G>C)
c.906+8G>C (n.906+8G>C)
c.165+1159G>C (n.165+1159G>C)
 dbSNP gnomAD v3 gnomAD v4
8g.11750244G=CA1764081293GATA4c.909+8G= (n.909+8G=)
c.912+8G= (n.912+8G=)
c.291+8G= (n.291+8G=)
c.906+8G= (n.906+8G=)
c.165+1159G= (n.165+1159G=)
8g.11750245G>ACA4630736GATA4c.909+9G>A (n.909+9G>A)
c.912+9G>A (n.912+9G>A)
c.291+9G>A (n.291+9G>A)
c.906+9G>A (n.906+9G>A)
c.165+1160G>A (n.165+1160G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750245G=CA1764081295GATA4c.909+9G= (n.909+9G=)
c.912+9G= (n.912+9G=)
c.291+9G= (n.291+9G=)
c.906+9G= (n.906+9G=)
c.165+1160G= (n.165+1160G=)
8g.11750245G>TCA2686137365GATA4c.909+9G>T (n.909+9G>T)
c.912+9G>T (n.912+9G>T)
c.291+9G>T (n.291+9G>T)
c.906+9G>T (n.906+9G>T)
c.165+1160G>T (n.165+1160G>T)
 gnomAD v4
8g.11750246T>CCA579787905GATA4c.909+10T>C (n.909+10T>C)
c.912+10T>C (n.912+10T>C)
c.291+10T>C (n.291+10T>C)
c.906+10T>C (n.906+10T>C)
c.165+1161T>C (n.165+1161T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11750246T=CA1764081297GATA4c.909+10T= (n.909+10T=)
c.912+10T= (n.912+10T=)
c.291+10T= (n.291+10T=)
c.906+10T= (n.906+10T=)
c.165+1161T= (n.165+1161T=)
8g.11750247C>ACA2579094118GATA4c.909+11C>A (n.909+11C>A)
c.912+11C>A (n.912+11C>A)
c.291+11C>A (n.291+11C>A)
c.906+11C>A (n.906+11C>A)
c.165+1162C>A (n.165+1162C>A)
 dbSNP gnomAD v4
8g.11750247C=CA1764081300GATA4c.909+11C= (n.909+11C=)
c.912+11C= (n.912+11C=)
c.291+11C= (n.291+11C=)
c.906+11C= (n.906+11C=)
c.165+1162C= (n.165+1162C=)
8g.11750247C>TCA4630737GATA4c.909+11C>T (n.909+11C>T)
c.912+11C>T (n.912+11C>T)
c.291+11C>T (n.291+11C>T)
c.906+11C>T (n.906+11C>T)
c.165+1162C>T (n.165+1162C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750248C=CA1764081302GATA4c.909+12C= (n.909+12C=)
c.912+12C= (n.912+12C=)
c.291+12C= (n.291+12C=)
c.906+12C= (n.906+12C=)
c.165+1163C= (n.165+1163C=)
8g.11750248C>GCA579787907GATA4c.909+12C>G (n.909+12C>G)
c.912+12C>G (n.912+12C>G)
c.291+12C>G (n.291+12C>G)
c.906+12C>G (n.906+12C>G)
c.165+1163C>G (n.165+1163C>G)
 dbSNP gnomAD v2
8g.11750248C>TCA2686137366GATA4c.909+12C>T (n.909+12C>T)
c.912+12C>T (n.912+12C>T)
c.291+12C>T (n.291+12C>T)
c.906+12C>T (n.906+12C>T)
c.165+1163C>T (n.165+1163C>T)
 gnomAD v4
8g.11750249T>CCA2686137367GATA4c.909+13T>C (n.909+13T>C)
c.912+13T>C (n.912+13T>C)
c.291+13T>C (n.291+13T>C)
c.906+13T>C (n.906+13T>C)
c.165+1164T>C (n.165+1164T>C)
 dbSNP gnomAD v4
8g.11750250G>TCA2686137368GATA4c.909+14G>T (n.909+14G>T)
c.912+14G>T (n.912+14G>T)
c.291+14G>T (n.291+14G>T)
c.906+14G>T (n.906+14G>T)
c.165+1165G>T (n.165+1165G>T)
 gnomAD v4
8g.11750251C=CA1764081305GATA4c.909+15C= (n.909+15C=)
c.912+15C= (n.912+15C=)
c.291+15C= (n.291+15C=)
c.906+15C= (n.906+15C=)
c.165+1166C= (n.165+1166C=)
8g.11750251C>TCA4630738GATA4c.909+15C>T (n.909+15C>T)
c.912+15C>T (n.912+15C>T)
c.291+15C>T (n.291+15C>T)
c.906+15C>T (n.906+15C>T)
c.165+1166C>T (n.165+1166C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750252G>ACA4630739GATA4c.909+16G>A (n.909+16G>A)
c.912+16G>A (n.912+16G>A)
c.291+16G>A (n.291+16G>A)
c.906+16G>A (n.906+16G>A)
c.165+1167G>A (n.165+1167G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750252G=CA1764081307GATA4c.909+16G= (n.909+16G=)
c.912+16G= (n.912+16G=)
c.291+16G= (n.291+16G=)
c.906+16G= (n.906+16G=)
c.165+1167G= (n.165+1167G=)
8g.11750252G>TCA2579094119GATA4c.909+16G>T (n.909+16G>T)
c.912+16G>T (n.912+16G>T)
c.291+16G>T (n.291+16G>T)
c.906+16G>T (n.906+16G>T)
c.165+1167G>T (n.165+1167G>T)
8g.11750252_11750253delinsGCCA1764081308GATA4c.909+16_909+17delinsGC (n.909+16_909+17delinsGC)
c.912+16_912+17delinsGC (n.912+16_912+17delinsGC)
c.291+16_291+17delinsGC (n.291+16_291+17delinsGC)
c.906+16_906+17delinsGC (n.906+16_906+17delinsGC)
c.165+1167_165+1168delinsGC (n.165+1167_165+1168delinsGC)
8g.11750253C=CA1764081311GATA4c.909+17C= (n.909+17C=)
c.912+17C= (n.912+17C=)
c.291+17C= (n.291+17C=)
c.906+17C= (n.906+17C=)
c.165+1168C= (n.165+1168C=)
8g.11750253C>TCA4630740GATA4c.909+17C>T (n.909+17C>T)
c.912+17C>T (n.912+17C>T)
c.291+17C>T (n.291+17C>T)
c.906+17C>T (n.906+17C>T)
c.165+1168C>T (n.165+1168C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750255delCA1110740208GATA4c.909+19del (n.909+19del)
c.912+19del (n.912+19del)
c.291+19del (n.291+19del)
c.906+19del (n.906+19del)
c.165+1170del (n.165+1170del)
 dbSNP gnomAD v3 gnomAD v4
8g.11750254C>ACA2579094120GATA4c.909+18C>A (n.909+18C>A)
c.912+18C>A (n.912+18C>A)
c.291+18C>A (n.291+18C>A)
c.906+18C>A (n.906+18C>A)
c.165+1169C>A (n.165+1169C>A)
 gnomAD v4
8g.11750254C=CA1764081313GATA4c.909+18C= (n.909+18C=)
c.912+18C= (n.912+18C=)
c.291+18C= (n.291+18C=)
c.906+18C= (n.906+18C=)
c.165+1169C= (n.165+1169C=)
8g.11750254C>GCA172114523GATA4c.909+18C>G (n.909+18C>G)
c.912+18C>G (n.912+18C>G)
c.291+18C>G (n.291+18C>G)
c.906+18C>G (n.906+18C>G)
c.165+1169C>G (n.165+1169C>G)
 dbSNP
8g.11750255C=CA1764081316GATA4c.909+19C= (n.909+19C=)
c.912+19C= (n.912+19C=)
c.291+19C= (n.291+19C=)
c.906+19C= (n.906+19C=)
c.165+1170C= (n.165+1170C=)
8g.11750255C>GCA2580078002GATA4c.909+19C>G (n.909+19C>G)
c.912+19C>G (n.912+19C>G)
c.291+19C>G (n.291+19C>G)
c.906+19C>G (n.906+19C>G)
c.165+1170C>G (n.165+1170C>G)
 ClinVar
8g.11750255C>TCA4630741GATA4c.909+19C>T (n.909+19C>T)
c.912+19C>T (n.912+19C>T)
c.291+19C>T (n.291+19C>T)
c.906+19C>T (n.906+19C>T)
c.165+1170C>T (n.165+1170C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750256A=CA1764081318GATA4c.909+20A= (n.909+20A=)
c.912+20A= (n.912+20A=)
c.291+20A= (n.291+20A=)
c.906+20A= (n.906+20A=)
c.165+1171A= (n.165+1171A=)
8g.11750256A>GCA4630742GATA4c.909+20A>G (n.909+20A>G)
c.912+20A>G (n.912+20A>G)
c.291+20A>G (n.291+20A>G)
c.906+20A>G (n.906+20A>G)
c.165+1171A>G (n.165+1171A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750257T>ACA2686137369GATA4c.909+21T>A (n.909+21T>A)
c.912+21T>A (n.912+21T>A)
c.291+21T>A (n.291+21T>A)
c.906+21T>A (n.906+21T>A)
c.165+1172T>A (n.165+1172T>A)
 gnomAD v4
8g.11750258G>ACA2686137370GATA4c.909+22G>A (n.909+22G>A)
c.912+22G>A (n.912+22G>A)
c.291+22G>A (n.291+22G>A)
c.906+22G>A (n.906+22G>A)
c.165+1173G>A (n.165+1173G>A)
 gnomAD v4
8g.11750258G>TCA2686137371GATA4c.909+22G>T (n.909+22G>T)
c.912+22G>T (n.912+22G>T)
c.291+22G>T (n.291+22G>T)
c.906+22G>T (n.906+22G>T)
c.165+1173G>T (n.165+1173G>T)
 gnomAD v4
8g.11750259C>ACA4630744GATA4c.909+23C>A (n.909+23C>A)
c.912+23C>A (n.912+23C>A)
c.291+23C>A (n.291+23C>A)
c.906+23C>A (n.906+23C>A)
c.165+1174C>A (n.165+1174C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750259C=CA1764081322GATA4c.909+23C= (n.909+23C=)
c.912+23C= (n.912+23C=)
c.291+23C= (n.291+23C=)
c.906+23C= (n.906+23C=)
c.165+1174C= (n.165+1174C=)
8g.11750259C>GCA2686137372GATA4c.909+23C>G (n.909+23C>G)
c.912+23C>G (n.912+23C>G)
c.291+23C>G (n.291+23C>G)
c.906+23C>G (n.906+23C>G)
c.165+1174C>G (n.165+1174C>G)
 gnomAD v4
8g.11750259C>TCA4630743GATA4c.909+23C>T (n.909+23C>T)
c.912+23C>T (n.912+23C>T)
c.291+23C>T (n.291+23C>T)
c.906+23C>T (n.906+23C>T)
c.165+1174C>T (n.165+1174C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750260G>ACA4630745GATA4c.909+24G>A (n.909+24G>A)
c.912+24G>A (n.912+24G>A)
c.291+24G>A (n.291+24G>A)
c.906+24G>A (n.906+24G>A)
c.165+1175G>A (n.165+1175G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750260G=CA1764081326GATA4c.909+24G= (n.909+24G=)
c.912+24G= (n.912+24G=)
c.291+24G= (n.291+24G=)
c.906+24G= (n.906+24G=)
c.165+1175G= (n.165+1175G=)
8g.11750260G>TCA2686137373GATA4c.909+24G>T (n.909+24G>T)
c.912+24G>T (n.912+24G>T)
c.291+24G>T (n.291+24G>T)
c.906+24G>T (n.906+24G>T)
c.165+1175G>T (n.165+1175G>T)
 gnomAD v4
8g.11750261G>ACA232591GATA4c.909+25G>A (n.909+25G>A)
c.912+25G>A (n.912+25G>A)
c.291+25G>A (n.291+25G>A)
c.906+25G>A (n.906+25G>A)
c.165+1176G>A (n.165+1176G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11750261G>CCA2580595860GATA4c.909+25G>C (n.909+25G>C)
c.912+25G>C (n.912+25G>C)
c.291+25G>C (n.291+25G>C)
c.906+25G>C (n.906+25G>C)
c.165+1176G>C (n.165+1176G>C)
8g.11750261G=CA1764081330GATA4c.909+25G= (n.909+25G=)
c.912+25G= (n.912+25G=)
c.291+25G= (n.291+25G=)
c.906+25G= (n.906+25G=)
c.165+1176G= (n.165+1176G=)
8g.11750261G>TCA2580595859GATA4c.909+25G>T (n.909+25G>T)
c.912+25G>T (n.912+25G>T)
c.291+25G>T (n.291+25G>T)
c.906+25G>T (n.906+25G>T)
c.165+1176G>T (n.165+1176G>T)
 gnomAD v4
8g.11750262C=CA1764081332GATA4c.909+26C= (n.909+26C=)
c.912+26C= (n.912+26C=)
c.291+26C= (n.291+26C=)
c.906+26C= (n.906+26C=)
c.165+1177C= (n.165+1177C=)
8g.11750262C>TCA579787921GATA4c.909+26C>T (n.909+26C>T)
c.912+26C>T (n.912+26C>T)
c.291+26C>T (n.291+26C>T)
c.906+26C>T (n.906+26C>T)
c.165+1177C>T (n.165+1177C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11750263A=CA1764081335GATA4c.909+27A= (n.909+27A=)
c.912+27A= (n.912+27A=)
c.291+27A= (n.291+27A=)
c.906+27A= (n.906+27A=)
c.165+1178A= (n.165+1178A=)
8g.11750263A>CCA1764081336GATA4c.909+27A>C (n.909+27A>C)
c.912+27A>C (n.912+27A>C)
c.291+27A>C (n.291+27A>C)
c.906+27A>C (n.906+27A>C)
c.165+1178A>C (n.165+1178A>C)
 dbSNP
8g.11750263A>GCA2686137374GATA4c.909+27A>G (n.909+27A>G)
c.912+27A>G (n.912+27A>G)
c.291+27A>G (n.291+27A>G)
c.906+27A>G (n.906+27A>G)
c.165+1178A>G (n.165+1178A>G)
 gnomAD v4
8g.11750264T>ACA2686137375GATA4c.909+28T>A (n.909+28T>A)
c.912+28T>A (n.912+28T>A)
c.291+28T>A (n.291+28T>A)
c.906+28T>A (n.906+28T>A)
c.165+1179T>A (n.165+1179T>A)
 gnomAD v4
8g.11750265C>ACA2686137376GATA4c.909+29C>A (n.909+29C>A)
c.912+29C>A (n.912+29C>A)
c.291+29C>A (n.291+29C>A)
c.906+29C>A (n.906+29C>A)
c.165+1180C>A (n.165+1180C>A)
 gnomAD v4
8g.11750265C=CA1764081338GATA4c.909+29C= (n.909+29C=)
c.912+29C= (n.912+29C=)
c.291+29C= (n.291+29C=)
c.906+29C= (n.906+29C=)
c.165+1180C= (n.165+1180C=)
8g.11750265C>TCA4630746GATA4c.909+29C>T (n.909+29C>T)
c.912+29C>T (n.912+29C>T)
c.291+29C>T (n.291+29C>T)
c.906+29C>T (n.906+29C>T)
c.165+1180C>T (n.165+1180C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11750266C>ACA2686137377GATA4c.909+30C>A (n.909+30C>A)
c.912+30C>A (n.912+30C>A)
c.291+30C>A (n.291+30C>A)
c.906+30C>A (n.906+30C>A)
c.165+1181C>A (n.165+1181C>A)
 gnomAD v4
8g.11750266C>TCA2579094121GATA4c.909+30C>T (n.909+30C>T)
c.912+30C>T (n.912+30C>T)
c.291+30C>T (n.291+30C>T)
c.906+30C>T (n.906+30C>T)
c.165+1181C>T (n.165+1181C>T)
 gnomAD v4

Number of alleles fetched