Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
8g.11757035G>ACA172120438GATA4c.1098G>A (p.Thr366=)
c.1101G>A (p.Thr367=)
n.543G>A
c.480G>A (p.Thr160=)
c.1095G>A (p.Thr365=)
c.354G>A (p.Thr118=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757035G>CCA4630828GATA4c.1098G>C (p.Thr366=)
c.1101G>C (p.Thr367=)
n.543G>C
c.480G>C (p.Thr160=)
c.1095G>C (p.Thr365=)
c.354G>C (p.Thr118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757035G=CA1764072513GATA4c.1098G= (p.Thr366=)
c.1101G= (p.Thr367=)
n.543G=
c.480G= (p.Thr160=)
c.1095G= (p.Thr365=)
c.354G= (p.Thr118=)
8g.11757035G>TCA459313704GATA4c.1098G>T (p.Thr366=)
c.1101G>T (p.Thr367=)
n.543G>T
c.480G>T (p.Thr160=)
c.1095G>T (p.Thr365=)
c.354G>T (p.Thr118=)
8g.11757036G>ACA370315419GATA4c.1099G>A (p.Glu367Lys)
c.1102G>A (p.Glu368Lys)
n.544G>A
c.481G>A (p.Glu161Lys)
c.1096G>A (p.Glu366Lys)
c.355G>A (p.Glu119Lys)
8g.11757036G>CCA370315417GATA4c.1099G>C (p.Glu367Gln)
c.1102G>C (p.Glu368Gln)
n.544G>C
c.481G>C (p.Glu161Gln)
c.1096G>C (p.Glu366Gln)
c.355G>C (p.Glu119Gln)
8g.11757036G>TCA370315418GATA4c.1099G>T (p.Glu367Ter)
c.1102G>T (p.Glu368Ter)
n.544G>T
c.481G>T (p.Glu161Ter)
c.1096G>T (p.Glu366Ter)
c.355G>T (p.Glu119Ter)
8g.11757037A>CCA370315420GATA4c.1100A>C (p.Glu367Ala)
c.1103A>C (p.Glu368Ala)
n.545A>C
c.482A>C (p.Glu161Ala)
c.1097A>C (p.Glu366Ala)
c.356A>C (p.Glu119Ala)
 gnomAD v4
8g.11757037A>GCA370315421GATA4c.1100A>G (p.Glu367Gly)
c.1103A>G (p.Glu368Gly)
n.545A>G
c.482A>G (p.Glu161Gly)
c.1097A>G (p.Glu366Gly)
c.356A>G (p.Glu119Gly)
8g.11757037A>TCA370315422GATA4c.1100A>T (p.Glu367Val)
c.1103A>T (p.Glu368Val)
n.545A>T
c.482A>T (p.Glu161Val)
c.1097A>T (p.Glu366Val)
c.356A>T (p.Glu119Val)
8g.11757038G>ACA4630829GATA4c.1101G>A (p.Glu367=)
c.1104G>A (p.Glu368=)
n.546G>A
c.483G>A (p.Glu161=)
c.1098G>A (p.Glu366=)
c.357G>A (p.Glu119=)
 ClinVar dbSNP ExAC gnomAD v2
8g.11757038G>CCA370315423GATA4c.1101G>C (p.Glu367Asp)
c.1104G>C (p.Glu368Asp)
n.546G>C
c.483G>C (p.Glu161Asp)
c.1098G>C (p.Glu366Asp)
c.357G>C (p.Glu119Asp)
 gnomAD v4
8g.11757038G=CA1764072521GATA4c.1101G= (p.Glu367=)
c.1104G= (p.Glu368=)
n.546G=
c.483G= (p.Glu161=)
c.1098G= (p.Glu366=)
c.357G= (p.Glu119=)
8g.11757038G>TCA370315424GATA4c.1101G>T (p.Glu367Asp)
c.1104G>T (p.Glu368Asp)
n.546G>T
c.483G>T (p.Glu161Asp)
c.1098G>T (p.Glu366Asp)
c.357G>T (p.Glu119Asp)
 dbSNP
8g.11757039C>ACA370315425GATA4c.1102C>A (p.Pro368Thr)
c.1105C>A (p.Pro369Thr)
n.547C>A
c.484C>A (p.Pro162Thr)
c.1099C>A (p.Pro367Thr)
c.358C>A (p.Pro120Thr)
8g.11757039C>GCA370315426GATA4c.1102C>G (p.Pro368Ala)
c.1105C>G (p.Pro369Ala)
n.547C>G
c.484C>G (p.Pro162Ala)
c.1099C>G (p.Pro367Ala)
c.358C>G (p.Pro120Ala)
8g.11757039C>TCA370315427GATA4c.1102C>T (p.Pro368Ser)
c.1105C>T (p.Pro369Ser)
n.547C>T
c.484C>T (p.Pro162Ser)
c.1099C>T (p.Pro367Ser)
c.358C>T (p.Pro120Ser)
8g.11757040C>ACA370315428GATA4c.1103C>A (p.Pro368His)
c.1106C>A (p.Pro369His)
n.548C>A
c.485C>A (p.Pro162His)
c.1100C>A (p.Pro367His)
c.359C>A (p.Pro120His)
8g.11757040C=CA1764072524GATA4c.1103C= (p.Pro368=)
c.1106C= (p.Pro369=)
n.548C=
c.485C= (p.Pro162=)
c.1100C= (p.Pro367=)
c.359C= (p.Pro120=)
8g.11757040C>GCA4630830GATA4c.1103C>G (p.Pro368Arg)
c.1106C>G (p.Pro369Arg)
n.548C>G
c.485C>G (p.Pro162Arg)
c.1100C>G (p.Pro367Arg)
c.359C>G (p.Pro120Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757040C>TCA370315429GATA4c.1103C>T (p.Pro368Leu)
c.1106C>T (p.Pro369Leu)
n.548C>T
c.485C>T (p.Pro162Leu)
c.1100C>T (p.Pro367Leu)
c.359C>T (p.Pro120Leu)
 dbSNP gnomAD v3 gnomAD v4
8g.11757041T>ACA459313705GATA4c.1104T>A (p.Pro368=)
c.1107T>A (p.Pro369=)
n.549T>A
c.486T>A (p.Pro162=)
c.1101T>A (p.Pro367=)
c.360T>A (p.Pro120=)
8g.11757041T>CCA459313706GATA4c.1104T>C (p.Pro368=)
c.1107T>C (p.Pro369=)
n.549T>C
c.486T>C (p.Pro162=)
c.1101T>C (p.Pro367=)
c.360T>C (p.Pro120=)
8g.11757041T>GCA459313707GATA4c.1104T>G (p.Pro368=)
c.1107T>G (p.Pro369=)
n.549T>G
c.486T>G (p.Pro162=)
c.1101T>G (p.Pro367=)
c.360T>G (p.Pro120=)
8g.11757042G>ACA370315431GATA4c.1105G>A (p.Gly369Ser)
c.1108G>A (p.Gly370Ser)
n.550G>A
c.487G>A (p.Gly163Ser)
c.1102G>A (p.Gly368Ser)
c.361G>A (p.Gly121Ser)
8g.11757042G>CCA370315432GATA4c.1105G>C (p.Gly369Arg)
c.1108G>C (p.Gly370Arg)
n.550G>C
c.487G>C (p.Gly163Arg)
c.1102G>C (p.Gly368Arg)
c.361G>C (p.Gly121Arg)
 dbSNP gnomAD v2
8g.11757042G=CA1764072527GATA4c.1105G= (p.Gly369=)
c.1108G= (p.Gly370=)
n.550G=
c.487G= (p.Gly163=)
c.1102G= (p.Gly368=)
c.361G= (p.Gly121=)
8g.11757042G>TCA370315430GATA4c.1105G>T (p.Gly369Cys)
c.1108G>T (p.Gly370Cys)
n.550G>T
c.487G>T (p.Gly163Cys)
c.1102G>T (p.Gly368Cys)
c.361G>T (p.Gly121Cys)
8g.11757043G>ACA370315433GATA4c.1106G>A (p.Gly369Asp)
c.1109G>A (p.Gly370Asp)
n.551G>A
c.488G>A (p.Gly163Asp)
c.1103G>A (p.Gly368Asp)
c.362G>A (p.Gly121Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757043G>CCA370315434GATA4c.1106G>C (p.Gly369Ala)
c.1109G>C (p.Gly370Ala)
n.551G>C
c.488G>C (p.Gly163Ala)
c.1103G>C (p.Gly368Ala)
c.362G>C (p.Gly121Ala)
 gnomAD v4
8g.11757043G=CA1764072532GATA4c.1106G= (p.Gly369=)
c.1109G= (p.Gly370=)
n.551G=
c.488G= (p.Gly163=)
c.1103G= (p.Gly368=)
c.362G= (p.Gly121=)
8g.11757043G>TCA4630831GATA4c.1106G>T (p.Gly369Val)
c.1109G>T (p.Gly370Val)
n.551G>T
c.488G>T (p.Gly163Val)
c.1103G>T (p.Gly368Val)
c.362G>T (p.Gly121Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757043_11757045dupCA2686136938GATA4c.1106_1108dup (p.Gly369_Leu370insArg)
c.1109_1111dup (p.Gly370_Leu371insArg)
n.551_553dup
c.488_490dup (p.Gly163_Leu164insArg)
c.1103_1105dup (p.Gly368_Leu369insArg)
c.362_364dup (p.Gly121_Leu122insArg)
 gnomAD v4
8g.11757044C>ACA459313708GATA4c.1107C>A (p.Gly369=)
c.1110C>A (p.Gly370=)
n.552C>A
c.489C>A (p.Gly163=)
c.1104C>A (p.Gly368=)
c.363C>A (p.Gly121=)
8g.11757044C=CA1764072533GATA4c.1107C= (p.Gly369=)
c.1110C= (p.Gly370=)
n.552C=
c.489C= (p.Gly163=)
c.1104C= (p.Gly368=)
c.363C= (p.Gly121=)
8g.11757044C>GCA459313709GATA4c.1107C>G (p.Gly369=)
c.1110C>G (p.Gly370=)
n.552C>G
c.489C>G (p.Gly163=)
c.1104C>G (p.Gly368=)
c.363C>G (p.Gly121=)
8g.11757044C>TCA4630832GATA4c.1107C>T (p.Gly369=)
c.1110C>T (p.Gly370=)
n.552C>T
c.489C>T (p.Gly163=)
c.1104C>T (p.Gly368=)
c.363C>T (p.Gly121=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757045C>ACA370315435GATA4c.1108C>A (p.Leu370Met)
c.1111C>A (p.Leu371Met)
n.553C>A
c.490C>A (p.Leu164Met)
c.1105C>A (p.Leu369Met)
c.364C>A (p.Leu122Met)
8g.11757045C>GCA370315436GATA4c.1108C>G (p.Leu370Val)
c.1111C>G (p.Leu371Val)
n.553C>G
c.490C>G (p.Leu164Val)
c.1105C>G (p.Leu369Val)
c.364C>G (p.Leu122Val)
8g.11757045C>TCA459313710GATA4c.1108C>T (p.Leu370=)
c.1111C>T (p.Leu371=)
n.553C>T
c.490C>T (p.Leu164=)
c.1105C>T (p.Leu369=)
c.364C>T (p.Leu122=)
8g.11757046T>ACA370315437GATA4c.1109T>A (p.Leu370Gln)
c.1112T>A (p.Leu371Gln)
n.554T>A
c.491T>A (p.Leu164Gln)
c.1106T>A (p.Leu369Gln)
c.365T>A (p.Leu122Gln)
8g.11757046T>CCA370315438GATA4c.1109T>C (p.Leu370Pro)
c.1112T>C (p.Leu371Pro)
n.554T>C
c.491T>C (p.Leu164Pro)
c.1106T>C (p.Leu369Pro)
c.365T>C (p.Leu122Pro)
8g.11757046T>GCA4630833GATA4c.1109T>G (p.Leu370Arg)
c.1112T>G (p.Leu371Arg)
n.554T>G
c.491T>G (p.Leu164Arg)
c.1106T>G (p.Leu369Arg)
c.365T>G (p.Leu122Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757046T=CA1764072534GATA4c.1109T= (p.Leu370=)
c.1112T= (p.Leu371=)
n.554T=
c.491T= (p.Leu164=)
c.1106T= (p.Leu369=)
c.365T= (p.Leu122=)
8g.11757047G>ACA459313711GATA4c.1110G>A (p.Leu370=)
c.1113G>A (p.Leu371=)
n.555G>A
c.492G>A (p.Leu164=)
c.1107G>A (p.Leu369=)
c.366G>A (p.Leu122=)
 gnomAD v4
8g.11757047G>CCA459313712GATA4c.1110G>C (p.Leu370=)
c.1113G>C (p.Leu371=)
n.555G>C
c.492G>C (p.Leu164=)
c.1107G>C (p.Leu369=)
c.366G>C (p.Leu122=)
8g.11757047G=CA1764072536GATA4c.1110G= (p.Leu370=)
c.1113G= (p.Leu371=)
n.555G=
c.492G= (p.Leu164=)
c.1107G= (p.Leu369=)
c.366G= (p.Leu122=)
8g.11757047G>TCA172120461GATA4c.1110G>T (p.Leu370=)
c.1113G>T (p.Leu371=)
n.555G>T
c.492G>T (p.Leu164=)
c.1107G>T (p.Leu369=)
c.366G>T (p.Leu122=)
 dbSNP gnomAD v2 gnomAD v4
8g.11757048T>ACA370315439GATA4c.1111T>A (p.Ser371Thr)
c.1114T>A (p.Ser372Thr)
n.556T>A
c.493T>A (p.Ser165Thr)
c.1108T>A (p.Ser370Thr)
c.367T>A (p.Ser123Thr)
 gnomAD v4
8g.11757048T>CCA370315440GATA4c.1111T>C (p.Ser371Pro)
c.1114T>C (p.Ser372Pro)
n.556T>C
c.493T>C (p.Ser165Pro)
c.1108T>C (p.Ser370Pro)
c.367T>C (p.Ser123Pro)
8g.11757048T>GCA370315441GATA4c.1111T>G (p.Ser371Ala)
c.1114T>G (p.Ser372Ala)
n.556T>G
c.493T>G (p.Ser165Ala)
c.1108T>G (p.Ser370Ala)
c.367T>G (p.Ser123Ala)
8g.11757049C>ACA370315443GATA4c.1112C>A (p.Ser371Ter)
c.1115C>A (p.Ser372Ter)
n.557C>A
c.494C>A (p.Ser165Ter)
c.1109C>A (p.Ser370Ter)
c.368C>A (p.Ser123Ter)
8g.11757049C>GCA370315444GATA4c.1112C>G (p.Ser371Ter)
c.1115C>G (p.Ser372Ter)
n.557C>G
c.494C>G (p.Ser165Ter)
c.1109C>G (p.Ser370Ter)
c.368C>G (p.Ser123Ter)
8g.11757049C>TCA370315442GATA4c.1112C>T (p.Ser371Leu)
c.1115C>T (p.Ser372Leu)
n.557C>T
c.494C>T (p.Ser165Leu)
c.1109C>T (p.Ser370Leu)
c.368C>T (p.Ser123Leu)
8g.11757050A=CA1764072540GATA4c.1113A= (p.Ser371=)
c.1116A= (p.Ser372=)
n.558A=
c.495A= (p.Ser165=)
c.1110A= (p.Ser370=)
c.369A= (p.Ser123=)
8g.11757050A>CCA459313713GATA4c.1113A>C (p.Ser371=)
c.1116A>C (p.Ser372=)
n.558A>C
c.495A>C (p.Ser165=)
c.1110A>C (p.Ser370=)
c.369A>C (p.Ser123=)
8g.11757050A>GCA4630834GATA4c.1113A>G (p.Ser371=)
c.1116A>G (p.Ser372=)
n.558A>G
c.495A>G (p.Ser165=)
c.1110A>G (p.Ser370=)
c.369A>G (p.Ser123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757050A>TCA459313714GATA4c.1113A>T (p.Ser371=)
c.1116A>T (p.Ser372=)
n.558A>T
c.495A>T (p.Ser165=)
c.1110A>T (p.Ser370=)
c.369A>T (p.Ser123=)
 ClinVar dbSNP
8g.11757051T>ACA370315445GATA4c.1114T>A (p.Ser372Thr)
c.1117T>A (p.Ser373Thr)
n.559T>A
c.496T>A (p.Ser166Thr)
c.1111T>A (p.Ser371Thr)
c.370T>A (p.Ser124Thr)
8g.11757051T>CCA370315446GATA4c.1114T>C (p.Ser372Pro)
c.1117T>C (p.Ser373Pro)
n.559T>C
c.496T>C (p.Ser166Pro)
c.1111T>C (p.Ser371Pro)
c.370T>C (p.Ser124Pro)
 gnomAD v4
8g.11757051T>GCA370315447GATA4c.1114T>G (p.Ser372Ala)
c.1117T>G (p.Ser373Ala)
n.559T>G
c.496T>G (p.Ser166Ala)
c.1111T>G (p.Ser371Ala)
c.370T>G (p.Ser124Ala)
8g.11757052C>ACA370315448GATA4c.1115C>A (p.Ser372Tyr)
c.1118C>A (p.Ser373Tyr)
n.560C>A
c.497C>A (p.Ser166Tyr)
c.1112C>A (p.Ser371Tyr)
c.371C>A (p.Ser124Tyr)
 gnomAD v4
8g.11757052C>GCA370315449GATA4c.1115C>G (p.Ser372Cys)
c.1118C>G (p.Ser373Cys)
n.560C>G
c.497C>G (p.Ser166Cys)
c.1112C>G (p.Ser371Cys)
c.371C>G (p.Ser124Cys)
8g.11757052C>TCA370315450GATA4c.1115C>T (p.Ser372Phe)
c.1118C>T (p.Ser373Phe)
n.560C>T
c.497C>T (p.Ser166Phe)
c.1112C>T (p.Ser371Phe)
c.371C>T (p.Ser124Phe)
 COSMIC
8g.11757053T>ACA459313715GATA4c.1116T>A (p.Ser372=)
c.1119T>A (p.Ser373=)
n.561T>A
c.498T>A (p.Ser166=)
c.1113T>A (p.Ser371=)
c.372T>A (p.Ser124=)
8g.11757053T>CCA459313716GATA4c.1116T>C (p.Ser372=)
c.1119T>C (p.Ser373=)
n.561T>C
c.498T>C (p.Ser166=)
c.1113T>C (p.Ser371=)
c.372T>C (p.Ser124=)
8g.11757053T>GCA459313717GATA4c.1116T>G (p.Ser372=)
c.1119T>G (p.Ser373=)
n.561T>G
c.498T>G (p.Ser166=)
c.1113T>G (p.Ser371=)
c.372T>G (p.Ser124=)
8g.11757054C>ACA370315451GATA4c.1117C>A (p.His373Asn)
c.1120C>A (p.His374Asn)
n.562C>A
c.499C>A (p.His167Asn)
c.1114C>A (p.His372Asn)
c.373C>A (p.His125Asn)
8g.11757054C=CA1764072542GATA4c.1117C= (p.His373=)
c.1120C= (p.His374=)
n.562C=
c.499C= (p.His167=)
c.1114C= (p.His372=)
c.373C= (p.His125=)
8g.11757054C>GCA370315452GATA4c.1117C>G (p.His373Asp)
c.1120C>G (p.His374Asp)
n.562C>G
c.499C>G (p.His167Asp)
c.1114C>G (p.His372Asp)
c.373C>G (p.His125Asp)
8g.11757054C>TCA172120462GATA4c.1117C>T (p.His373Tyr)
c.1120C>T (p.His374Tyr)
n.562C>T
c.499C>T (p.His167Tyr)
c.1114C>T (p.His372Tyr)
c.373C>T (p.His125Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.11757054_11757057delinsCACTCA1764072543GATA4c.1117_1120delinsCACT (p.His373=)
c.1120_1123delinsCACT (p.His374=)
n.562_565delinsCACT
c.499_502delinsCACT (p.His167=)
c.1114_1117delinsCACT (p.His372=)
c.373_376delinsCACT (p.His125=)
8g.11757055A>CCA370315453GATA4c.1118A>C (p.His373Pro)
c.1121A>C (p.His374Pro)
n.563A>C
c.500A>C (p.His167Pro)
c.1115A>C (p.His372Pro)
c.374A>C (p.His125Pro)
8g.11757055A>GCA370315454GATA4c.1118A>G (p.His373Arg)
c.1121A>G (p.His374Arg)
n.563A>G
c.500A>G (p.His167Arg)
c.1115A>G (p.His372Arg)
c.374A>G (p.His125Arg)
8g.11757055A>TCA370315455GATA4c.1118A>T (p.His373Leu)
c.1121A>T (p.His374Leu)
n.563A>T
c.500A>T (p.His167Leu)
c.1115A>T (p.His372Leu)
c.374A>T (p.His125Leu)
8g.11757057_11757059delCA915945609GATA4c.1120_1122del (p.Tyr374del)
c.1123_1125del (p.Tyr375del)
n.565_567del
c.502_504del (p.Tyr168del)
c.1117_1119del (p.Tyr373del)
c.376_378del (p.Tyr126del)
 ClinVar dbSNP gnomAD v4
8g.11757056C>ACA370315456GATA4c.1119C>A (p.His373Gln)
c.1122C>A (p.His374Gln)
n.564C>A
c.501C>A (p.His167Gln)
c.1116C>A (p.His372Gln)
c.375C>A (p.His125Gln)
 dbSNP gnomAD v4
8g.11757056C=CA1764072544GATA4c.1119C= (p.His373=)
c.1122C= (p.His374=)
n.564C=
c.501C= (p.His167=)
c.1116C= (p.His372=)
c.375C= (p.His125=)
8g.11757056C>GCA370315457GATA4c.1119C>G (p.His373Gln)
c.1122C>G (p.His374Gln)
n.564C>G
c.501C>G (p.His167Gln)
c.1116C>G (p.His372Gln)
c.375C>G (p.His125Gln)
8g.11757056C>TCA459313718GATA4c.1119C>T (p.His373=)
c.1122C>T (p.His374=)
n.564C>T
c.501C>T (p.His167=)
c.1116C>T (p.His372=)
c.375C>T (p.His125=)
 gnomAD v4
8g.11757057T>ACA370315459GATA4c.1120T>A (p.Tyr374Asn)
c.1123T>A (p.Tyr375Asn)
n.565T>A
c.502T>A (p.Tyr168Asn)
c.1117T>A (p.Tyr373Asn)
c.376T>A (p.Tyr126Asn)
8g.11757057T>CCA370315460GATA4c.1120T>C (p.Tyr374His)
c.1123T>C (p.Tyr375His)
n.565T>C
c.502T>C (p.Tyr168His)
c.1117T>C (p.Tyr373His)
c.376T>C (p.Tyr126His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757057T>GCA370315458GATA4c.1120T>G (p.Tyr374Asp)
c.1123T>G (p.Tyr375Asp)
n.565T>G
c.502T>G (p.Tyr168Asp)
c.1117T>G (p.Tyr373Asp)
c.376T>G (p.Tyr126Asp)
8g.11757057T=CA1764072545GATA4c.1120T= (p.Tyr374=)
c.1123T= (p.Tyr375=)
n.565T=
c.502T= (p.Tyr168=)
c.1117T= (p.Tyr373=)
c.376T= (p.Tyr126=)
8g.11757058A>CCA370315463GATA4c.1121A>C (p.Tyr374Ser)
c.1124A>C (p.Tyr375Ser)
n.566A>C
c.503A>C (p.Tyr168Ser)
c.1118A>C (p.Tyr373Ser)
c.377A>C (p.Tyr126Ser)
8g.11757058A>GCA370315461GATA4c.1121A>G (p.Tyr374Cys)
c.1124A>G (p.Tyr375Cys)
n.566A>G
c.503A>G (p.Tyr168Cys)
c.1118A>G (p.Tyr373Cys)
c.377A>G (p.Tyr126Cys)
 gnomAD v4
8g.11757058A>TCA370315462GATA4c.1121A>T (p.Tyr374Phe)
c.1124A>T (p.Tyr375Phe)
n.566A>T
c.503A>T (p.Tyr168Phe)
c.1118A>T (p.Tyr373Phe)
c.377A>T (p.Tyr126Phe)
8g.11757059C>ACA370315464GATA4c.1122C>A (p.Tyr374Ter)
c.1125C>A (p.Tyr375Ter)
n.567C>A
c.504C>A (p.Tyr168Ter)
c.1119C>A (p.Tyr373Ter)
c.378C>A (p.Tyr126Ter)
8g.11757059C=CA1764072548GATA4c.1122C= (p.Tyr374=)
c.1125C= (p.Tyr375=)
n.567C=
c.504C= (p.Tyr168=)
c.1119C= (p.Tyr373=)
c.378C= (p.Tyr126=)
8g.11757059C>GCA370315465GATA4c.1122C>G (p.Tyr374Ter)
c.1125C>G (p.Tyr375Ter)
n.567C>G
c.504C>G (p.Tyr168Ter)
c.1119C>G (p.Tyr373Ter)
c.378C>G (p.Tyr126Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757059C>TCA4630835GATA4c.1122C>T (p.Tyr374=)
c.1125C>T (p.Tyr375=)
n.567C>T
c.504C>T (p.Tyr168=)
c.1119C>T (p.Tyr373=)
c.378C>T (p.Tyr126=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757060G>ACA4630836GATA4c.1123G>A (p.Gly375Arg)
c.1126G>A (p.Gly376Arg)
n.568G>A
c.505G>A (p.Gly169Arg)
c.1120G>A (p.Gly374Arg)
c.379G>A (p.Gly127Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757060G>CCA370315466GATA4c.1123G>C (p.Gly375Arg)
c.1126G>C (p.Gly376Arg)
n.568G>C
c.505G>C (p.Gly169Arg)
c.1120G>C (p.Gly374Arg)
c.379G>C (p.Gly127Arg)
8g.11757060G=CA1764072551GATA4c.1123G= (p.Gly375=)
c.1126G= (p.Gly376=)
n.568G=
c.505G= (p.Gly169=)
c.1120G= (p.Gly374=)
c.379G= (p.Gly127=)
8g.11757060G>TCA370315467GATA4c.1123G>T (p.Gly375Trp)
c.1126G>T (p.Gly376Trp)
n.568G>T
c.505G>T (p.Gly169Trp)
c.1120G>T (p.Gly374Trp)
c.379G>T (p.Gly127Trp)
 ClinVar dbSNP
8g.11757061G>ACA4630837GATA4c.1124G>A (p.Gly375Glu)
c.1127G>A (p.Gly376Glu)
n.569G>A
c.506G>A (p.Gly169Glu)
c.1121G>A (p.Gly374Glu)
c.380G>A (p.Gly127Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757061G>CCA370315469GATA4c.1124G>C (p.Gly375Ala)
c.1127G>C (p.Gly376Ala)
n.569G>C
c.506G>C (p.Gly169Ala)
c.1121G>C (p.Gly374Ala)
c.380G>C (p.Gly127Ala)
8g.11757061G=CA1764072555GATA4c.1124G= (p.Gly375=)
c.1127G= (p.Gly376=)
n.569G=
c.506G= (p.Gly169=)
c.1121G= (p.Gly374=)
c.380G= (p.Gly127=)
8g.11757061G>TCA370315468GATA4c.1124G>T (p.Gly375Val)
c.1127G>T (p.Gly376Val)
n.569G>T
c.506G>T (p.Gly169Val)
c.1121G>T (p.Gly374Val)
c.380G>T (p.Gly127Val)
8g.11757062G>ACA459313720GATA4c.1125G>A (p.Gly375=)
c.1128G>A (p.Gly376=)
n.570G>A
c.507G>A (p.Gly169=)
c.1122G>A (p.Gly374=)
c.381G>A (p.Gly127=)
 ClinVar dbSNP gnomAD v4
8g.11757062G>CCA172120467GATA4c.1125G>C (p.Gly375=)
c.1128G>C (p.Gly376=)
n.570G>C
c.507G>C (p.Gly169=)
c.1122G>C (p.Gly374=)
c.381G>C (p.Gly127=)
 dbSNP gnomAD v4
8g.11757062G=CA1764072556GATA4c.1125G= (p.Gly375=)
c.1128G= (p.Gly376=)
n.570G=
c.507G= (p.Gly169=)
c.1122G= (p.Gly374=)
c.381G= (p.Gly127=)
8g.11757062G>TCA459313721GATA4c.1125G>T (p.Gly375=)
c.1128G>T (p.Gly376=)
n.570G>T
c.507G>T (p.Gly169=)
c.1122G>T (p.Gly374=)
c.381G>T (p.Gly127=)
8g.11757063C>ACA370315470GATA4c.1126C>A (p.His376Asn)
c.1129C>A (p.His377Asn)
n.571C>A
c.508C>A (p.His170Asn)
c.1123C>A (p.His375Asn)
c.382C>A (p.His128Asn)
8g.11757063C>GCA370315471GATA4c.1126C>G (p.His376Asp)
c.1129C>G (p.His377Asp)
n.571C>G
c.508C>G (p.His170Asp)
c.1123C>G (p.His375Asp)
c.382C>G (p.His128Asp)
8g.11757063C>TCA370315472GATA4c.1126C>T (p.His376Tyr)
c.1129C>T (p.His377Tyr)
n.571C>T
c.508C>T (p.His170Tyr)
c.1123C>T (p.His375Tyr)
c.382C>T (p.His128Tyr)
8g.11757064A>CCA370315475GATA4c.1127A>C (p.His376Pro)
c.1130A>C (p.His377Pro)
n.572A>C
c.509A>C (p.His170Pro)
c.1124A>C (p.His375Pro)
c.383A>C (p.His128Pro)
8g.11757064A>GCA370315473GATA4c.1127A>G (p.His376Arg)
c.1130A>G (p.His377Arg)
n.572A>G
c.509A>G (p.His170Arg)
c.1124A>G (p.His375Arg)
c.383A>G (p.His128Arg)
8g.11757064A>TCA370315474GATA4c.1127A>T (p.His376Leu)
c.1130A>T (p.His377Leu)
n.572A>T
c.509A>T (p.His170Leu)
c.1124A>T (p.His375Leu)
c.383A>T (p.His128Leu)
8g.11757065C>ACA370315476GATA4c.1128C>A (p.His376Gln)
c.1131C>A (p.His377Gln)
n.573C>A
c.510C>A (p.His170Gln)
c.1125C>A (p.His375Gln)
c.384C>A (p.His128Gln)
 dbSNP gnomAD v3 gnomAD v4
8g.11757065C=CA1764072558GATA4c.1128C= (p.His376=)
c.1131C= (p.His377=)
n.573C=
c.510C= (p.His170=)
c.1125C= (p.His375=)
c.384C= (p.His128=)
8g.11757065C>GCA172120469GATA4c.1128C>G (p.His376Gln)
c.1131C>G (p.His377Gln)
n.573C>G
c.510C>G (p.His170Gln)
c.1125C>G (p.His375Gln)
c.384C>G (p.His128Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
8g.11757065C>TCA459313722GATA4c.1128C>T (p.His376=)
c.1131C>T (p.His377=)
n.573C>T
c.510C>T (p.His170=)
c.1125C>T (p.His375=)
c.384C>T (p.His128=)
 gnomAD v4
8g.11757066A=CA1764072560GATA4c.1129A= (p.Ser377=)
c.1132A= (p.Ser378=)
n.574A=
c.511A= (p.Ser171=)
c.1126A= (p.Ser376=)
c.385A= (p.Ser129=)
8g.11757066A>CCA370315477GATA4c.1129A>C (p.Ser377Arg)
c.1132A>C (p.Ser378Arg)
n.574A>C
c.511A>C (p.Ser171Arg)
c.1126A>C (p.Ser376Arg)
c.385A>C (p.Ser129Arg)
8g.11757066A>GCA133993GATA4c.1129A>G (p.Ser377Gly)
c.1132A>G (p.Ser378Gly)
n.574A>G
c.511A>G (p.Ser171Gly)
c.1126A>G (p.Ser376Gly)
c.385A>G (p.Ser129Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757066A>TCA370315478GATA4c.1129A>T (p.Ser377Cys)
c.1132A>T (p.Ser378Cys)
n.574A>T
c.511A>T (p.Ser171Cys)
c.1126A>T (p.Ser376Cys)
c.385A>T (p.Ser129Cys)
8g.11757067G>ACA370315479GATA4c.1130G>A (p.Ser377Asn)
c.1133G>A (p.Ser378Asn)
n.575G>A
c.512G>A (p.Ser171Asn)
c.1127G>A (p.Ser376Asn)
c.386G>A (p.Ser129Asn)
 gnomAD v4
8g.11757067G>CCA370315480GATA4c.1130G>C (p.Ser377Thr)
c.1133G>C (p.Ser378Thr)
n.575G>C
c.512G>C (p.Ser171Thr)
c.1127G>C (p.Ser376Thr)
c.386G>C (p.Ser129Thr)
8g.11757067G>TCA370315481GATA4c.1130G>T (p.Ser377Ile)
c.1133G>T (p.Ser378Ile)
n.575G>T
c.512G>T (p.Ser171Ile)
c.1127G>T (p.Ser376Ile)
c.386G>T (p.Ser129Ile)
8g.11757068C>ACA370315482GATA4c.1131C>A (p.Ser377Arg)
c.1134C>A (p.Ser378Arg)
n.576C>A
c.513C>A (p.Ser171Arg)
c.1128C>A (p.Ser376Arg)
c.387C>A (p.Ser129Arg)
8g.11757068C=CA1764072564GATA4c.1131C= (p.Ser377=)
c.1134C= (p.Ser378=)
n.576C=
c.513C= (p.Ser171=)
c.1128C= (p.Ser376=)
c.387C= (p.Ser129=)
8g.11757068C>GCA370315483GATA4c.1131C>G (p.Ser377Arg)
c.1134C>G (p.Ser378Arg)
n.576C>G
c.513C>G (p.Ser171Arg)
c.1128C>G (p.Ser376Arg)
c.387C>G (p.Ser129Arg)
 dbSNP gnomAD v4
8g.11757068C>TCA459313726GATA4c.1131C>T (p.Ser377=)
c.1134C>T (p.Ser378=)
n.576C>T
c.513C>T (p.Ser171=)
c.1128C>T (p.Ser376=)
c.387C>T (p.Ser129=)
8g.11757069A>CCA370315484GATA4c.1132A>C (p.Ser378Arg)
c.1135A>C (p.Ser379Arg)
n.577A>C
c.514A>C (p.Ser172Arg)
c.1129A>C (p.Ser377Arg)
c.388A>C (p.Ser130Arg)
8g.11757069A>GCA370315485GATA4c.1132A>G (p.Ser378Gly)
c.1135A>G (p.Ser379Gly)
n.577A>G
c.514A>G (p.Ser172Gly)
c.1129A>G (p.Ser377Gly)
c.388A>G (p.Ser130Gly)
8g.11757069A>TCA370315486GATA4c.1132A>T (p.Ser378Cys)
c.1135A>T (p.Ser379Cys)
n.577A>T
c.514A>T (p.Ser172Cys)
c.1129A>T (p.Ser377Cys)
c.388A>T (p.Ser130Cys)
8g.11757070G>ACA370315487GATA4c.1133G>A (p.Ser378Asn)
c.1136G>A (p.Ser379Asn)
n.578G>A
c.515G>A (p.Ser172Asn)
c.1130G>A (p.Ser377Asn)
c.389G>A (p.Ser130Asn)
 ClinVar
8g.11757070G>CCA370315488GATA4c.1133G>C (p.Ser378Thr)
c.1136G>C (p.Ser379Thr)
n.578G>C
c.515G>C (p.Ser172Thr)
c.1130G>C (p.Ser377Thr)
c.389G>C (p.Ser130Thr)
8g.11757070G=CA1764072567GATA4c.1133G= (p.Ser378=)
c.1136G= (p.Ser379=)
n.578G=
c.515G= (p.Ser172=)
c.1130G= (p.Ser377=)
c.389G= (p.Ser130=)
8g.11757070G>TCA10582554GATA4c.1133G>T (p.Ser378Ile)
c.1136G>T (p.Ser379Ile)
n.578G>T
c.515G>T (p.Ser172Ile)
c.1130G>T (p.Ser377Ile)
c.389G>T (p.Ser130Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757071C>ACA370315489GATA4c.1134C>A (p.Ser378Arg)
c.1137C>A (p.Ser379Arg)
n.579C>A
c.516C>A (p.Ser172Arg)
c.1131C>A (p.Ser377Arg)
c.390C>A (p.Ser130Arg)
8g.11757071C>GCA370315490GATA4c.1134C>G (p.Ser378Arg)
c.1137C>G (p.Ser379Arg)
n.579C>G
c.516C>G (p.Ser172Arg)
c.1131C>G (p.Ser377Arg)
c.390C>G (p.Ser130Arg)
8g.11757071C>TCA459313728GATA4c.1134C>T (p.Ser378=)
c.1137C>T (p.Ser379=)
n.579C>T
c.516C>T (p.Ser172=)
c.1131C>T (p.Ser377=)
c.390C>T (p.Ser130=)
8g.11757072T>ACA370315491GATA4c.1135T>A (p.Ser379Thr)
c.1138T>A (p.Ser380Thr)
n.580T>A
c.517T>A (p.Ser173Thr)
c.1132T>A (p.Ser378Thr)
c.391T>A (p.Ser131Thr)
8g.11757072T>CCA370315492GATA4c.1135T>C (p.Ser379Pro)
c.1138T>C (p.Ser380Pro)
n.580T>C
c.517T>C (p.Ser173Pro)
c.1132T>C (p.Ser378Pro)
c.391T>C (p.Ser131Pro)
8g.11757072T>GCA370315493GATA4c.1135T>G (p.Ser379Ala)
c.1138T>G (p.Ser380Ala)
n.580T>G
c.517T>G (p.Ser173Ala)
c.1132T>G (p.Ser378Ala)
c.391T>G (p.Ser131Ala)
8g.11757073C>ACA370315494GATA4c.1136C>A (p.Ser379Tyr)
c.1139C>A (p.Ser380Tyr)
n.581C>A
c.518C>A (p.Ser173Tyr)
c.1133C>A (p.Ser378Tyr)
c.392C>A (p.Ser131Tyr)
8g.11757073C=CA1764072570GATA4c.1136C= (p.Ser379=)
c.1139C= (p.Ser380=)
n.581C=
c.518C= (p.Ser173=)
c.1133C= (p.Ser378=)
c.392C= (p.Ser131=)
8g.11757073C>GCA370315495GATA4c.1136C>G (p.Ser379Cys)
c.1139C>G (p.Ser380Cys)
n.581C>G
c.518C>G (p.Ser173Cys)
c.1133C>G (p.Ser378Cys)
c.392C>G (p.Ser131Cys)
8g.11757073C>TCA370315496GATA4c.1136C>T (p.Ser379Phe)
c.1139C>T (p.Ser380Phe)
n.581C>T
c.518C>T (p.Ser173Phe)
c.1133C>T (p.Ser378Phe)
c.392C>T (p.Ser131Phe)
 dbSNP
8g.11757074C>ACA459313731GATA4c.1137C>A (p.Ser379=)
c.1140C>A (p.Ser380=)
n.582C>A
c.519C>A (p.Ser173=)
c.1134C>A (p.Ser378=)
c.393C>A (p.Ser131=)
8g.11757074C=CA1764072575GATA4c.1137C= (p.Ser379=)
c.1140C= (p.Ser380=)
n.582C=
c.519C= (p.Ser173=)
c.1134C= (p.Ser378=)
c.393C= (p.Ser131=)
8g.11757074C>GCA459313730GATA4c.1137C>G (p.Ser379=)
c.1140C>G (p.Ser380=)
n.582C>G
c.519C>G (p.Ser173=)
c.1134C>G (p.Ser378=)
c.393C>G (p.Ser131=)
8g.11757074C>TCA4630838GATA4c.1137C>T (p.Ser379=)
c.1140C>T (p.Ser380=)
n.582C>T
c.519C>T (p.Ser173=)
c.1134C>T (p.Ser378=)
c.393C>T (p.Ser131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757075G>ACA4630839GATA4c.1138G>A (p.Val380Met)
c.1141G>A (p.Val381Met)
n.583G>A
c.520G>A (p.Val174Met)
c.1135G>A (p.Val379Met)
c.394G>A (p.Val132Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757075G>CCA370315497GATA4c.1138G>C (p.Val380Leu)
c.1141G>C (p.Val381Leu)
n.583G>C
c.520G>C (p.Val174Leu)
c.1135G>C (p.Val379Leu)
c.394G>C (p.Val132Leu)
8g.11757075G=CA1764072579GATA4c.1138G= (p.Val380=)
c.1141G= (p.Val381=)
n.583G=
c.520G= (p.Val174=)
c.1135G= (p.Val379=)
c.394G= (p.Val132=)
8g.11757075G>TCA370315498GATA4c.1138G>T (p.Val380Leu)
c.1141G>T (p.Val381Leu)
n.583G>T
c.520G>T (p.Val174Leu)
c.1135G>T (p.Val379Leu)
c.394G>T (p.Val132Leu)
8g.11757076T>ACA370315501GATA4c.1139T>A (p.Val380Glu)
c.1142T>A (p.Val381Glu)
n.584T>A
c.521T>A (p.Val174Glu)
c.1136T>A (p.Val379Glu)
c.395T>A (p.Val132Glu)
 dbSNP gnomAD v3 gnomAD v4
8g.11757076T>CCA370315500GATA4c.1139T>C (p.Val380Ala)
c.1142T>C (p.Val381Ala)
n.584T>C
c.521T>C (p.Val174Ala)
c.1136T>C (p.Val379Ala)
c.395T>C (p.Val132Ala)
8g.11757076T>GCA370315499GATA4c.1139T>G (p.Val380Gly)
c.1142T>G (p.Val381Gly)
n.584T>G
c.521T>G (p.Val174Gly)
c.1136T>G (p.Val379Gly)
c.395T>G (p.Val132Gly)
8g.11757076T=CA1764072583GATA4c.1139T= (p.Val380=)
c.1142T= (p.Val381=)
n.584T=
c.521T= (p.Val174=)
c.1136T= (p.Val379=)
c.395T= (p.Val132=)
8g.11757077G>ACA459313733GATA4c.1140G>A (p.Val380=)
c.1143G>A (p.Val381=)
n.585G>A
c.522G>A (p.Val174=)
c.1137G>A (p.Val379=)
c.396G>A (p.Val132=)
 dbSNP gnomAD v2 gnomAD v4
8g.11757077G>CCA459313734GATA4c.1140G>C (p.Val380=)
c.1143G>C (p.Val381=)
n.585G>C
c.522G>C (p.Val174=)
c.1137G>C (p.Val379=)
c.396G>C (p.Val132=)
8g.11757077G=CA1764072585GATA4c.1140G= (p.Val380=)
c.1143G= (p.Val381=)
n.585G=
c.522G= (p.Val174=)
c.1137G= (p.Val379=)
c.396G= (p.Val132=)
8g.11757077G>TCA459313735GATA4c.1140G>T (p.Val380=)
c.1143G>T (p.Val381=)
n.585G>T
c.522G>T (p.Val174=)
c.1137G>T (p.Val379=)
c.396G>T (p.Val132=)
 gnomAD v4
8g.11757078T>ACA370315502GATA4c.1141T>A (p.Ser381Thr)
c.1144T>A (p.Ser382Thr)
n.586T>A
c.523T>A (p.Ser175Thr)
c.1138T>A (p.Ser380Thr)
c.397T>A (p.Ser133Thr)
8g.11757078T>CCA370315503GATA4c.1141T>C (p.Ser381Pro)
c.1144T>C (p.Ser382Pro)
n.586T>C
c.523T>C (p.Ser175Pro)
c.1138T>C (p.Ser380Pro)
c.397T>C (p.Ser133Pro)
8g.11757078T>GCA370315504GATA4c.1141T>G (p.Ser381Ala)
c.1144T>G (p.Ser382Ala)
n.586T>G
c.523T>G (p.Ser175Ala)
c.1138T>G (p.Ser380Ala)
c.397T>G (p.Ser133Ala)
8g.11757079C>ACA370315505GATA4c.1142C>A (p.Ser381Tyr)
c.1145C>A (p.Ser382Tyr)
n.587C>A
c.524C>A (p.Ser175Tyr)
c.1139C>A (p.Ser380Tyr)
c.398C>A (p.Ser133Tyr)
 dbSNP gnomAD v2 gnomAD v4
8g.11757079C=CA1764072591GATA4c.1142C= (p.Ser381=)
c.1145C= (p.Ser382=)
n.587C=
c.524C= (p.Ser175=)
c.1139C= (p.Ser380=)
c.398C= (p.Ser133=)
8g.11757079C>GCA4630840GATA4c.1142C>G (p.Ser381Cys)
c.1145C>G (p.Ser382Cys)
n.587C>G
c.524C>G (p.Ser175Cys)
c.1139C>G (p.Ser380Cys)
c.398C>G (p.Ser133Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757079C>TCA370315506GATA4c.1142C>T (p.Ser381Phe)
c.1145C>T (p.Ser382Phe)
n.587C>T
c.524C>T (p.Ser175Phe)
c.1139C>T (p.Ser380Phe)
c.398C>T (p.Ser133Phe)
 COSMIC
8g.11757080C>ACA459313739GATA4c.1143C>A (p.Ser381=)
c.1146C>A (p.Ser382=)
n.588C>A
c.525C>A (p.Ser175=)
c.1140C>A (p.Ser380=)
c.399C>A (p.Ser133=)
 dbSNP gnomAD v4
8g.11757080C=CA1764072594GATA4c.1143C= (p.Ser381=)
c.1146C= (p.Ser382=)
n.588C=
c.525C= (p.Ser175=)
c.1140C= (p.Ser380=)
c.399C= (p.Ser133=)
8g.11757080C>GCA459313737GATA4c.1143C>G (p.Ser381=)
c.1146C>G (p.Ser382=)
n.588C>G
c.525C>G (p.Ser175=)
c.1140C>G (p.Ser380=)
c.399C>G (p.Ser133=)
 gnomAD v4
8g.11757080C>TCA459313738GATA4c.1143C>T (p.Ser381=)
c.1146C>T (p.Ser382=)
n.588C>T
c.525C>T (p.Ser175=)
c.1140C>T (p.Ser380=)
c.399C>T (p.Ser133=)
 gnomAD v4
8g.11757081C>ACA370315507GATA4c.1144C>A (p.Gln382Lys)
c.1147C>A (p.Gln383Lys)
n.589C>A
c.526C>A
c.526C>A (p.Gln176Lys)
c.1141C>A (p.Gln381Lys)
c.400C>A (p.Gln134Lys)
8g.11757081C=CA1764072596GATA4c.1144C= (p.Gln382=)
c.1147C= (p.Gln383=)
n.589C=
c.526C=
c.526C= (p.Gln176=)
c.1141C= (p.Gln381=)
c.400C= (p.Gln134=)
8g.11757081C>GCA370315508GATA4c.1144C>G (p.Gln382Glu)
c.1147C>G (p.Gln383Glu)
n.589C>G
c.526C>G
c.526C>G (p.Gln176Glu)
c.1141C>G (p.Gln381Glu)
c.400C>G (p.Gln134Glu)
 ClinVar gnomAD v4
8g.11757081C>TCA370315509GATA4c.1144C>T (p.Gln382Ter)
c.1147C>T (p.Gln383Ter)
n.589C>T
c.526C>T
c.526C>T (p.Gln176Ter)
c.1141C>T (p.Gln381Ter)
c.400C>T (p.Gln134Ter)
 dbSNP gnomAD v2 gnomAD v4
8g.11757082A=CA1764072599GATA4c.1145A= (p.Gln382=)
c.1148A= (p.Gln383=)
n.590A=
c.527A=
c.527A= (p.Gln176=)
c.1142A= (p.Gln381=)
c.401A= (p.Gln134=)
8g.11757082A>CCA370315510GATA4c.1145A>C (p.Gln382Pro)
c.1148A>C (p.Gln383Pro)
n.590A>C
c.527A>C
c.527A>C (p.Gln176Pro)
c.1142A>C (p.Gln381Pro)
c.401A>C (p.Gln134Pro)
 ClinVar
8g.11757082A>GCA370315511GATA4c.1145A>G (p.Gln382Arg)
c.1148A>G (p.Gln383Arg)
n.590A>G
c.527A>G
c.527A>G (p.Gln176Arg)
c.1142A>G (p.Gln381Arg)
c.401A>G (p.Gln134Arg)
 dbSNP gnomAD v4
8g.11757082A>TCA370315512GATA4c.1145A>T (p.Gln382Leu)
c.1148A>T (p.Gln383Leu)
n.590A>T
c.527A>T
c.527A>T (p.Gln176Leu)
c.1142A>T (p.Gln381Leu)
c.401A>T (p.Gln134Leu)
8g.11757083G>ACA4630841GATA4c.1146G>A (p.Gln382=)
c.1149G>A (p.Gln383=)
n.591G>A
c.528G>A (p.Gln176=)
c.1143G>A (p.Gln381=)
c.402G>A (p.Gln134=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757083G>CCA370315514GATA4c.1146G>C (p.Gln382His)
c.1149G>C (p.Gln383His)
n.591G>C
c.528G>C (p.Gln176His)
c.1143G>C (p.Gln381His)
c.402G>C (p.Gln134His)
 ClinVar gnomAD v4
8g.11757083G=CA1764072600GATA4c.1146G= (p.Gln382=)
c.1149G= (p.Gln383=)
n.591G=
c.528G= (p.Gln176=)
c.1143G= (p.Gln381=)
c.402G= (p.Gln134=)
8g.11757083G>TCA370315513GATA4c.1146G>T (p.Gln382His)
c.1149G>T (p.Gln383His)
n.591G>T
c.528G>T (p.Gln176His)
c.1143G>T (p.Gln381His)
c.402G>T (p.Gln134His)
8g.11757084G>ACA370315515GATA4c.1146+1G>A (n.1146+1G>A)
c.1149+1G>A (n.1149+1G>A)
n.591+1G>A
c.528+1G>A (n.528+1G>A)
c.1143+1G>A (n.1143+1G>A)
c.402+1G>A (n.402+1G>A)
8g.11757084G>CCA370315517GATA4c.1146+1G>C (n.1146+1G>C)
c.1149+1G>C (n.1149+1G>C)
n.591+1G>C
c.528+1G>C (n.528+1G>C)
c.1143+1G>C (n.1143+1G>C)
c.402+1G>C (n.402+1G>C)
8g.11757084G>TCA370315516GATA4c.1146+1G>T (n.1146+1G>T)
c.1149+1G>T (n.1149+1G>T)
n.591+1G>T
c.528+1G>T (n.528+1G>T)
c.1143+1G>T (n.1143+1G>T)
c.402+1G>T (n.402+1G>T)
8g.11757085T>ACA370315518GATA4c.1146+2T>A (n.1146+2T>A)
c.1149+2T>A (n.1149+2T>A)
n.591+2T>A
c.528+2T>A (n.528+2T>A)
c.1143+2T>A (n.1143+2T>A)
c.402+2T>A (n.402+2T>A)
 gnomAD v4
8g.11757085T>CCA370315519GATA4c.1146+2T>C (n.1146+2T>C)
c.1149+2T>C (n.1149+2T>C)
n.591+2T>C
c.528+2T>C (n.528+2T>C)
c.1143+2T>C (n.1143+2T>C)
c.402+2T>C (n.402+2T>C)
 gnomAD v4
8g.11757085T>GCA370315520GATA4c.1146+2T>G (n.1146+2T>G)
c.1149+2T>G (n.1149+2T>G)
n.591+2T>G
c.528+2T>G (n.528+2T>G)
c.1143+2T>G (n.1143+2T>G)
c.402+2T>G (n.402+2T>G)
8g.11757087C=CA1764072602GATA4c.1146+4C= (n.1146+4C=)
c.1149+4C= (n.1149+4C=)
n.591+4C=
c.528+4C= (n.528+4C=)
c.1143+4C= (n.1143+4C=)
c.402+4C= (n.402+4C=)
8g.11757087C>GCA2686136966GATA4c.1146+4C>G (n.1146+4C>G)
c.1149+4C>G (n.1149+4C>G)
n.591+4C>G
c.528+4C>G (n.528+4C>G)
c.1143+4C>G (n.1143+4C>G)
c.402+4C>G (n.402+4C>G)
 gnomAD v4
8g.11757087C>TCA172120479GATA4c.1146+4C>T (n.1146+4C>T)
c.1149+4C>T (n.1149+4C>T)
n.591+4C>T
c.528+4C>T (n.528+4C>T)
c.1143+4C>T (n.1143+4C>T)
c.402+4C>T (n.402+4C>T)
 dbSNP gnomAD v3 gnomAD v4
8g.11757088G>ACA846161924GATA4c.1146+5G>A (n.1146+5G>A)
c.1149+5G>A (n.1149+5G>A)
n.591+5G>A
c.528+5G>A (n.528+5G>A)
c.1143+5G>A (n.1143+5G>A)
c.402+5G>A (n.402+5G>A)
 dbSNP gnomAD v3 gnomAD v4
8g.11757088G=CA1764072604GATA4c.1146+5G= (n.1146+5G=)
c.1149+5G= (n.1149+5G=)
n.591+5G=
c.528+5G= (n.528+5G=)
c.1143+5G= (n.1143+5G=)
c.402+5G= (n.402+5G=)
8g.11757089C=CA1764072607GATA4c.1146+6C= (n.1146+6C=)
c.1149+6C= (n.1149+6C=)
n.591+6C=
c.528+6C= (n.528+6C=)
c.1143+6C= (n.1143+6C=)
c.402+6C= (n.402+6C=)
8g.11757089C>TCA4630842GATA4c.1146+6C>T (n.1146+6C>T)
c.1149+6C>T (n.1149+6C>T)
n.591+6C>T
c.528+6C>T (n.528+6C>T)
c.1143+6C>T (n.1143+6C>T)
c.402+6C>T (n.402+6C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757090G>ACA4630844GATA4c.1146+7G>A (n.1146+7G>A)
c.1149+7G>A (n.1149+7G>A)
n.591+7G>A
c.528+7G>A (n.528+7G>A)
c.1143+7G>A (n.1143+7G>A)
c.402+7G>A (n.402+7G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757090G=CA1764072614GATA4c.1146+7G= (n.1146+7G=)
c.1149+7G= (n.1149+7G=)
n.591+7G=
c.528+7G= (n.528+7G=)
c.1143+7G= (n.1143+7G=)
c.402+7G= (n.402+7G=)
8g.11757090G>TCA4630843GATA4c.1146+7G>T (n.1146+7G>T)
c.1149+7G>T (n.1149+7G>T)
n.591+7G>T
c.528+7G>T (n.528+7G>T)
c.1143+7G>T (n.1143+7G>T)
c.402+7G>T (n.402+7G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757091C=CA1764072622GATA4c.1146+8C= (n.1146+8C=)
c.1149+8C= (n.1149+8C=)
n.591+8C=
c.528+8C= (n.528+8C=)
c.1143+8C= (n.1143+8C=)
c.402+8C= (n.402+8C=)
8g.11757091C>GCA579789238GATA4c.1146+8C>G (n.1146+8C>G)
c.1149+8C>G (n.1149+8C>G)
n.591+8C>G
c.528+8C>G (n.528+8C>G)
c.1143+8C>G (n.1143+8C>G)
c.402+8C>G (n.402+8C>G)
 dbSNP gnomAD v2 gnomAD v4
8g.11757091C>TCA579789239GATA4c.1146+8C>T (n.1146+8C>T)
c.1149+8C>T (n.1149+8C>T)
n.591+8C>T
c.528+8C>T (n.528+8C>T)
c.1143+8C>T (n.1143+8C>T)
c.402+8C>T (n.402+8C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757092C>TCA2686136981GATA4c.1146+9C>T (n.1146+9C>T)
c.1149+9C>T (n.1149+9C>T)
n.591+9C>T
c.528+9C>T (n.528+9C>T)
c.1143+9C>T (n.1143+9C>T)
c.402+9C>T (n.402+9C>T)
 gnomAD v4
8g.11757094T>CCA1110746914GATA4c.1146+11T>C (n.1146+11T>C)
c.1149+11T>C (n.1149+11T>C)
n.591+11T>C
c.528+11T>C (n.528+11T>C)
c.1143+11T>C (n.1143+11T>C)
c.402+11T>C (n.402+11T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.11757094T=CA1764072624GATA4c.1146+11T= (n.1146+11T=)
c.1149+11T= (n.1149+11T=)
n.591+11T=
c.528+11T= (n.528+11T=)
c.1143+11T= (n.1143+11T=)
c.402+11T= (n.402+11T=)
8g.11757096G>ACA1764072629GATA4c.1146+13G>A (n.1146+13G>A)
c.1149+13G>A (n.1149+13G>A)
n.591+13G>A
c.528+13G>A (n.528+13G>A)
c.1143+13G>A (n.1143+13G>A)
c.402+13G>A (n.402+13G>A)
 dbSNP
8g.11757096G=CA1764072628GATA4c.1146+13G= (n.1146+13G=)
c.1149+13G= (n.1149+13G=)
n.591+13G=
c.528+13G= (n.528+13G=)
c.1143+13G= (n.1143+13G=)
c.402+13G= (n.402+13G=)
8g.11757096G>TCA4630845GATA4c.1146+13G>T (n.1146+13G>T)
c.1149+13G>T (n.1149+13G>T)
n.591+13G>T
c.528+13G>T (n.528+13G>T)
c.1143+13G>T (n.1143+13G>T)
c.402+13G>T (n.402+13G>T)
 dbSNP ExAC gnomAD v2
8g.11757096_11757097delinsGCCA1764072631GATA4c.1146+13_1146+14delinsGC (n.1146+13_1146+14delinsGC)
c.1149+13_1149+14delinsGC (n.1149+13_1149+14delinsGC)
n.591+13_591+14delinsGC
c.528+13_528+14delinsGC (n.528+13_528+14delinsGC)
c.1143+13_1143+14delinsGC (n.1143+13_1143+14delinsGC)
c.402+13_402+14delinsGC (n.402+13_402+14delinsGC)
8g.11757097delCA579789240GATA4c.1146+14del (n.1146+14del)
c.1149+14del (n.1149+14del)
n.591+14del
c.528+14del (n.528+14del)
c.1143+14del (n.1143+14del)
c.402+14del (n.402+14del)
 dbSNP gnomAD v2 gnomAD v4
8g.11757097C>ACA4630846GATA4c.1146+14C>A (n.1146+14C>A)
c.1149+14C>A (n.1149+14C>A)
n.591+14C>A
c.528+14C>A (n.528+14C>A)
c.1143+14C>A (n.1143+14C>A)
c.402+14C>A (n.402+14C>A)
 dbSNP ExAC
8g.11757097C=CA1764072634GATA4c.1146+14C= (n.1146+14C=)
c.1149+14C= (n.1149+14C=)
n.591+14C=
c.528+14C= (n.528+14C=)
c.1143+14C= (n.1143+14C=)
c.402+14C= (n.402+14C=)
8g.11757097C>TCA2686136983GATA4c.1146+14C>T (n.1146+14C>T)
c.1149+14C>T (n.1149+14C>T)
n.591+14C>T
c.528+14C>T (n.528+14C>T)
c.1143+14C>T (n.1143+14C>T)
c.402+14C>T (n.402+14C>T)
 gnomAD v4
8g.11757098T>GCA2686136984GATA4c.1146+15T>G (n.1146+15T>G)
c.1149+15T>G (n.1149+15T>G)
n.591+15T>G
c.528+15T>G (n.528+15T>G)
c.1143+15T>G (n.1143+15T>G)
c.402+15T>G (n.402+15T>G)
 ClinVar gnomAD v4
8g.11757099G=CA1764072636GATA4c.1146+16G= (n.1146+16G=)
c.1149+16G= (n.1149+16G=)
n.591+16G=
c.528+16G= (n.528+16G=)
c.1143+16G= (n.1143+16G=)
c.402+16G= (n.402+16G=)
8g.11757099G>TCA4630847GATA4c.1146+16G>T (n.1146+16G>T)
c.1149+16G>T (n.1149+16G>T)
n.591+16G>T
c.528+16G>T (n.528+16G>T)
c.1143+16G>T (n.1143+16G>T)
c.402+16G>T (n.402+16G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757100G=CA1764072637GATA4c.1146+17G= (n.1146+17G=)
c.1149+17G= (n.1149+17G=)
n.591+17G=
c.528+17G= (n.528+17G=)
c.1143+17G= (n.1143+17G=)
c.402+17G= (n.402+17G=)
8g.11757100G>TCA579789241GATA4c.1146+17G>T (n.1146+17G>T)
c.1149+17G>T (n.1149+17G>T)
n.591+17G>T
c.528+17G>T (n.528+17G>T)
c.1143+17G>T (n.1143+17G>T)
c.402+17G>T (n.402+17G>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11757102G>ACA2686136986GATA4c.1146+19G>A (n.1146+19G>A)
c.1149+19G>A (n.1149+19G>A)
n.591+19G>A
c.528+19G>A (n.528+19G>A)
c.1143+19G>A (n.1143+19G>A)
c.402+19G>A (n.402+19G>A)
 gnomAD v4
8g.11757103C>ACA2579094206GATA4c.1146+20C>A (n.1146+20C>A)
c.1149+20C>A (n.1149+20C>A)
n.591+20C>A
c.528+20C>A (n.528+20C>A)
c.1143+20C>A (n.1143+20C>A)
c.402+20C>A (n.402+20C>A)
 gnomAD v4
8g.11757103C=CA1764072638GATA4c.1146+20C= (n.1146+20C=)
c.1149+20C= (n.1149+20C=)
n.591+20C=
c.528+20C= (n.528+20C=)
c.1143+20C= (n.1143+20C=)
c.402+20C= (n.402+20C=)
8g.11757103C>TCA4630848GATA4c.1146+20C>T (n.1146+20C>T)
c.1149+20C>T (n.1149+20C>T)
n.591+20C>T
c.528+20C>T (n.528+20C>T)
c.1143+20C>T (n.1143+20C>T)
c.402+20C>T (n.402+20C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757104G>ACA4630849GATA4c.1146+21G>A (n.1146+21G>A)
c.1149+21G>A (n.1149+21G>A)
n.591+21G>A
c.528+21G>A (n.528+21G>A)
c.1143+21G>A (n.1143+21G>A)
c.402+21G>A (n.402+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757104G=CA1764072641GATA4c.1146+21G= (n.1146+21G=)
c.1149+21G= (n.1149+21G=)
n.591+21G=
c.528+21G= (n.528+21G=)
c.1143+21G= (n.1143+21G=)
c.402+21G= (n.402+21G=)
8g.11757104G>TCA2686136990GATA4c.1146+21G>T (n.1146+21G>T)
c.1149+21G>T (n.1149+21G>T)
n.591+21G>T
c.528+21G>T (n.528+21G>T)
c.1143+21G>T (n.1143+21G>T)
c.402+21G>T (n.402+21G>T)
 gnomAD v4
8g.11757105C=CA1764072643GATA4c.1146+22C= (n.1146+22C=)
c.1149+22C= (n.1149+22C=)
n.591+22C=
c.528+22C= (n.528+22C=)
c.1143+22C= (n.1143+22C=)
c.402+22C= (n.402+22C=)
8g.11757105C>TCA579789243GATA4c.1146+22C>T (n.1146+22C>T)
c.1149+22C>T (n.1149+22C>T)
n.591+22C>T
c.528+22C>T (n.528+22C>T)
c.1143+22C>T (n.1143+22C>T)
c.402+22C>T (n.402+22C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.11757106C=CA1764072644GATA4c.1146+23C= (n.1146+23C=)
c.1149+23C= (n.1149+23C=)
n.591+23C=
c.528+23C= (n.528+23C=)
c.1143+23C= (n.1143+23C=)
c.402+23C= (n.402+23C=)
8g.11757107dupCA4630850GATA4c.1146+24dup (n.1146+24dup)
c.1149+24dup (n.1149+24dup)
n.591+24dup
c.528+24dup (n.528+24dup)
c.1143+24dup (n.1143+24dup)
c.402+24dup (n.402+24dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757109G>CCA1764072647GATA4c.1146+26G>C (n.1146+26G>C)
c.1149+26G>C (n.1149+26G>C)
n.591+26G>C
c.528+26G>C (n.528+26G>C)
c.1143+26G>C (n.1143+26G>C)
c.402+26G>C (n.402+26G>C)
 dbSNP gnomAD v4
8g.11757109G=CA1764072646GATA4c.1146+26G= (n.1146+26G=)
c.1149+26G= (n.1149+26G=)
n.591+26G=
c.528+26G= (n.528+26G=)
c.1143+26G= (n.1143+26G=)
c.402+26G= (n.402+26G=)
8g.11757110G>ACA172120502GATA4c.1146+27G>A (n.1146+27G>A)
c.1149+27G>A (n.1149+27G>A)
n.591+27G>A
c.528+27G>A (n.528+27G>A)
c.1143+27G>A (n.1143+27G>A)
c.402+27G>A (n.402+27G>A)
 dbSNP gnomAD v4
8g.11757110G>CCA846161945GATA4c.1146+27G>C (n.1146+27G>C)
c.1149+27G>C (n.1149+27G>C)
n.591+27G>C
c.528+27G>C (n.528+27G>C)
c.1143+27G>C (n.1143+27G>C)
c.402+27G>C (n.402+27G>C)
 dbSNP gnomAD v3 gnomAD v4
8g.11757110G=CA1764072649GATA4c.1146+27G= (n.1146+27G=)
c.1149+27G= (n.1149+27G=)
n.591+27G=
c.528+27G= (n.528+27G=)
c.1143+27G= (n.1143+27G=)
c.402+27G= (n.402+27G=)
8g.11757110G>TCA846161943GATA4c.1146+27G>T (n.1146+27G>T)
c.1149+27G>T (n.1149+27G>T)
n.591+27G>T
c.528+27G>T (n.528+27G>T)
c.1143+27G>T (n.1143+27G>T)
c.402+27G>T (n.402+27G>T)
 dbSNP
8g.11757111C>TCA2579094207GATA4c.1146+28C>T (n.1146+28C>T)
c.1149+28C>T (n.1149+28C>T)
n.591+28C>T
c.528+28C>T (n.528+28C>T)
c.1143+28C>T (n.1143+28C>T)
c.402+28C>T (n.402+28C>T)
 gnomAD v4
8g.11757113G>CCA2579094208GATA4c.1146+30G>C (n.1146+30G>C)
c.1149+30G>C (n.1149+30G>C)
n.591+30G>C
c.528+30G>C (n.528+30G>C)
c.1143+30G>C (n.1143+30G>C)
c.402+30G>C (n.402+30G>C)
 gnomAD v4
8g.11757113_11757114delinsGTCA1764072650GATA4c.1146+30_1146+31delinsGT (n.1146+30_1146+31delinsGT)
c.1149+30_1149+31delinsGT (n.1149+30_1149+31delinsGT)
n.591+30_591+31delinsGT
c.528+30_528+31delinsGT (n.528+30_528+31delinsGT)
c.1143+30_1143+31delinsGT (n.1143+30_1143+31delinsGT)
c.402+30_402+31delinsGT (n.402+30_402+31delinsGT)
8g.11757116delCA1764072651GATA4c.1146+33del (n.1146+33del)
c.1149+33del (n.1149+33del)
n.591+33del
c.528+33del (n.528+33del)
c.1143+33del (n.1143+33del)
c.402+33del (n.402+33del)
 dbSNP
8g.11757115T>CCA846161946GATA4c.1146+32T>C (n.1146+32T>C)
c.1149+32T>C (n.1149+32T>C)
n.591+32T>C
c.528+32T>C (n.528+32T>C)
c.1143+32T>C (n.1143+32T>C)
c.402+32T>C (n.402+32T>C)
 dbSNP gnomAD v3 gnomAD v4
8g.11757115T=CA1764072653GATA4c.1146+32T= (n.1146+32T=)
c.1149+32T= (n.1149+32T=)
n.591+32T=
c.528+32T= (n.528+32T=)
c.1143+32T= (n.1143+32T=)
c.402+32T= (n.402+32T=)
8g.11757118T=CA1764072654GATA4c.1146+35T= (n.1146+35T=)
c.1149+35T= (n.1149+35T=)
n.591+35T=
c.528+35T= (n.528+35T=)
c.1143+35T= (n.1143+35T=)
c.402+35T= (n.402+35T=)
8g.11757119G>ACA579789246GATA4c.1146+36G>A (n.1146+36G>A)
c.1149+36G>A (n.1149+36G>A)
n.591+36G>A
c.528+36G>A (n.528+36G>A)
c.1143+36G>A (n.1143+36G>A)
c.402+36G>A (n.402+36G>A)
 dbSNP gnomAD v2
8g.11757119G=CA1764072655GATA4c.1146+36G= (n.1146+36G=)
c.1149+36G= (n.1149+36G=)
n.591+36G=
c.528+36G= (n.528+36G=)
c.1143+36G= (n.1143+36G=)
c.402+36G= (n.402+36G=)
8g.11757122dupCA172120507GATA4c.1146+39dup (n.1146+39dup)
c.1149+39dup (n.1149+39dup)
n.591+39dup
c.528+39dup (n.528+39dup)
c.1143+39dup (n.1143+39dup)
c.402+39dup (n.402+39dup)
 dbSNP
8g.11757120G>ACA4630851GATA4c.1146+37G>A (n.1146+37G>A)
c.1149+37G>A (n.1149+37G>A)
n.591+37G>A
c.528+37G>A (n.528+37G>A)
c.1143+37G>A (n.1143+37G>A)
c.402+37G>A (n.402+37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757120G=CA1764072657GATA4c.1146+37G= (n.1146+37G=)
c.1149+37G= (n.1149+37G=)
n.591+37G=
c.528+37G= (n.528+37G=)
c.1143+37G= (n.1143+37G=)
c.402+37G= (n.402+37G=)
8g.11757120G>TCA2686136997GATA4c.1146+37G>T (n.1146+37G>T)
c.1149+37G>T (n.1149+37G>T)
n.591+37G>T
c.528+37G>T (n.528+37G>T)
c.1143+37G>T (n.1143+37G>T)
c.402+37G>T (n.402+37G>T)
 gnomAD v4
8g.11757121G>ACA172120513GATA4c.1146+38G>A (n.1146+38G>A)
c.1149+38G>A (n.1149+38G>A)
n.591+38G>A
c.528+38G>A (n.528+38G>A)
c.1143+38G>A (n.1143+38G>A)
c.402+38G>A (n.402+38G>A)
 dbSNP
8g.11757121G=CA1764072659GATA4c.1146+38G= (n.1146+38G=)
c.1149+38G= (n.1149+38G=)
n.591+38G=
c.528+38G= (n.528+38G=)
c.1143+38G= (n.1143+38G=)
c.402+38G= (n.402+38G=)
8g.11757122G>ACA2686136999GATA4c.1146+39G>A (n.1146+39G>A)
c.1149+39G>A (n.1149+39G>A)
n.591+39G>A
c.528+39G>A (n.528+39G>A)
c.1143+39G>A (n.1143+39G>A)
c.402+39G>A (n.402+39G>A)
 gnomAD v4
8g.11757122G=CA1764072660GATA4c.1146+39G= (n.1146+39G=)
c.1149+39G= (n.1149+39G=)
n.591+39G=
c.528+39G= (n.528+39G=)
c.1143+39G= (n.1143+39G=)
c.402+39G= (n.402+39G=)
8g.11757122G>TCA4630852GATA4c.1146+39G>T (n.1146+39G>T)
c.1149+39G>T (n.1149+39G>T)
n.591+39G>T
c.528+39G>T (n.528+39G>T)
c.1143+39G>T (n.1143+39G>T)
c.402+39G>T (n.402+39G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757125_11757135delCA2686137001GATA4c.1146+42_1146+52del (n.1146+42_1146+52del)
c.1149+42_1149+52del (n.1149+42_1149+52del)
n.591+42_591+52del
c.528+42_528+52del (n.528+42_528+52del)
c.1143+42_1143+52del (n.1143+42_1143+52del)
c.402+42_402+52del (n.402+42_402+52del)
 gnomAD v4
8g.11757124G>CCA4630853GATA4c.1146+41G>C (n.1146+41G>C)
c.1149+41G>C (n.1149+41G>C)
n.591+41G>C
c.528+41G>C (n.528+41G>C)
c.1143+41G>C (n.1143+41G>C)
c.402+41G>C (n.402+41G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.11757124G=CA1764072661GATA4c.1146+41G= (n.1146+41G=)
c.1149+41G= (n.1149+41G=)
n.591+41G=
c.528+41G= (n.528+41G=)
c.1143+41G= (n.1143+41G=)
c.402+41G= (n.402+41G=)
8g.11757125G>ACA2686137002GATA4c.1146+42G>A (n.1146+42G>A)
c.1149+42G>A (n.1149+42G>A)
n.591+42G>A
c.528+42G>A (n.528+42G>A)
c.1143+42G>A (n.1143+42G>A)
c.402+42G>A (n.402+42G>A)
 gnomAD v4
8g.11757126C=CA1764072663GATA4c.1146+43C= (n.1146+43C=)
c.1149+43C= (n.1149+43C=)
n.591+43C=
c.528+43C= (n.528+43C=)
c.1143+43C= (n.1143+43C=)
c.402+43C= (n.402+43C=)
8g.11757126C>TCA579789249GATA4c.1146+43C>T (n.1146+43C>T)
c.1149+43C>T (n.1149+43C>T)
n.591+43C>T
c.528+43C>T (n.528+43C>T)
c.1143+43C>T (n.1143+43C>T)
c.402+43C>T (n.402+43C>T)
 dbSNP gnomAD v2 gnomAD v4
8g.11757127C=CA1764072665GATA4c.1146+44C= (n.1146+44C=)
c.1149+44C= (n.1149+44C=)
n.591+44C=
c.528+44C= (n.528+44C=)
c.1143+44C= (n.1143+44C=)
c.402+44C= (n.402+44C=)
8g.11757127C>GCA4630854GATA4c.1146+44C>G (n.1146+44C>G)
c.1149+44C>G (n.1149+44C>G)
n.591+44C>G
c.528+44C>G (n.528+44C>G)
c.1143+44C>G (n.1143+44C>G)
c.402+44C>G (n.402+44C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757127C>TCA4630855GATA4c.1146+44C>T (n.1146+44C>T)
c.1149+44C>T (n.1149+44C>T)
n.591+44C>T
c.528+44C>T (n.528+44C>T)
c.1143+44C>T (n.1143+44C>T)
c.402+44C>T (n.402+44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.11757128G>ACA4630856GATA4c.1146+45G>A (n.1146+45G>A)
c.1149+45G>A (n.1149+45G>A)
n.591+45G>A
c.528+45G>A (n.528+45G>A)
c.1143+45G>A (n.1143+45G>A)
c.402+45G>A (n.402+45G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.11757128G=CA1764072667GATA4c.1146+45G= (n.1146+45G=)
c.1149+45G= (n.1149+45G=)
n.591+45G=
c.528+45G= (n.528+45G=)
c.1143+45G= (n.1143+45G=)
c.402+45G= (n.402+45G=)
8g.11757128G>TCA2686137004GATA4c.1146+45G>T (n.1146+45G>T)
c.1149+45G>T (n.1149+45G>T)
n.591+45G>T
c.528+45G>T (n.528+45G>T)
c.1143+45G>T (n.1143+45G>T)
c.402+45G>T (n.402+45G>T)
 gnomAD v4
8g.11757129A>TCA2686137006GATA4c.1146+46A>T (n.1146+46A>T)
c.1149+46A>T (n.1149+46A>T)
n.591+46A>T
c.528+46A>T (n.528+46A>T)
c.1143+46A>T (n.1143+46A>T)
c.402+46A>T (n.402+46A>T)
 gnomAD v4

Number of alleles fetched