Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.128481765_128481836delCA2580068704GATA2c.1126_1143+54del
c.1408_1425+54del
c.109_126+54del
c.1084_1101+54del
n.243_260+54del
 ClinVar
3g.128481825C>ACA435525515GATA2c.1137G>T (p.Leu379=)
c.1419G>T (p.Leu473=)
c.120G>T (p.Leu40=)
c.1095G>T (p.Leu365=)
n.254G>T
3g.128481825C=CA1400715030GATA2c.1137G= (p.Leu379=)
c.1419G= (p.Leu473=)
c.120G= (p.Leu40=)
c.1095G= (p.Leu365=)
n.254G=
3g.128481825C>GCA435525516GATA2c.1137G>C (p.Leu379=)
c.1419G>C (p.Leu473=)
c.120G>C (p.Leu40=)
c.1095G>C (p.Leu365=)
n.254G>C
3g.128481825C>TCA2599863GATA2c.1137G>A (p.Leu379=)
c.1419G>A (p.Leu473=)
c.120G>A (p.Leu40=)
c.1095G>A (p.Leu365=)
n.254G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.128481826delCA915940965GATA2c.1136del (p.Leu379ArgfsTer8)
c.1418del (p.Leu473ArgfsTer8)
c.119del (p.Leu40ArgfsTer?)
c.1094del (p.Leu365ArgfsTer8)
n.253del
3g.128481826A=CA1400715034GATA2c.1136T= (p.Leu379=)
c.1418T= (p.Leu473=)
c.119T= (p.Leu40=)
c.1094T= (p.Leu365=)
n.253T=
3g.128481826A>CCA354413460GATA2c.1136T>G (p.Leu379Arg)
c.1418T>G (p.Leu473Arg)
c.119T>G (p.Leu40Arg)
c.1094T>G (p.Leu365Arg)
n.253T>G
3g.128481826A>GCA354413461GATA2c.1136T>C (p.Leu379Pro)
c.1418T>C (p.Leu473Pro)
c.119T>C (p.Leu40Pro)
c.1094T>C (p.Leu365Pro)
n.253T>C
3g.128481826A>TCA2599864GATA2c.1136T>A (p.Leu379Gln)
c.1418T>A (p.Leu473Gln)
c.119T>A (p.Leu40Gln)
c.1094T>A (p.Leu365Gln)
n.253T>A
 dbSNP ExAC gnomAD v2 COSMIC
3g.128481827G>ACA435525517GATA2c.1135C>T (p.Leu379=)
c.1417C>T (p.Leu473=)
c.118C>T (p.Leu40=)
c.1093C>T (p.Leu365=)
n.252C>T
3g.128481827G>CCA354413462GATA2c.1135C>G (p.Leu379Val)
c.1417C>G (p.Leu473Val)
c.118C>G (p.Leu40Val)
c.1093C>G (p.Leu365Val)
n.252C>G
3g.128481827G>TCA354413463GATA2c.1135C>A (p.Leu379Met)
c.1417C>A (p.Leu473Met)
c.118C>A (p.Leu40Met)
c.1093C>A (p.Leu365Met)
n.252C>A
3g.128481827_128481853dupCA2667540511GATA2c.1109_1135dup (p.Lys378_Leu379insArgAsnAlaCysGlyLeuTyrTyrLys)
c.1391_1417dup (p.Lys472_Leu473insArgAsnAlaCysGlyLeuTyrTyrLys)
c.92_118dup (p.Lys39_Leu40insArgAsnAlaCysGlyLeuTyrTyrLys)
c.1067_1093dup (p.Lys364_Leu365insArgAsnAlaCysGlyLeuTyrTyrLys)
n.226_252dup
 gnomAD v4
3g.128481828C>ACA354413464GATA2c.1134G>T (p.Lys378Asn)
c.1416G>T (p.Lys472Asn)
c.117G>T (p.Lys39Asn)
c.1092G>T (p.Lys364Asn)
n.251G>T
3g.128481828C=CA1400715038GATA2c.1134G= (p.Lys378=)
c.1416G= (p.Lys472=)
c.117G= (p.Lys39=)
c.1092G= (p.Lys364=)
n.251G=
3g.128481828C>GCA354413465GATA2c.1134G>C (p.Lys378Asn)
c.1416G>C (p.Lys472Asn)
c.117G>C (p.Lys39Asn)
c.1092G>C (p.Lys364Asn)
n.251G>C
3g.128481828C>TCA435525518GATA2c.1134G>A (p.Lys378=)
c.1416G>A (p.Lys472=)
c.117G>A (p.Lys39=)
c.1092G>A (p.Lys364=)
n.251G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.128481829T>ACA354413466GATA2c.1133A>T (p.Lys378Met)
c.1415A>T (p.Lys472Met)
c.116A>T (p.Lys39Met)
c.1091A>T (p.Lys364Met)
n.250A>T
3g.128481829T>CCA354413467GATA2c.1133A>G (p.Lys378Arg)
c.1415A>G (p.Lys472Arg)
c.116A>G (p.Lys39Arg)
c.1091A>G (p.Lys364Arg)
n.250A>G
3g.128481829T>GCA354413468GATA2c.1133A>C (p.Lys378Thr)
c.1415A>C (p.Lys472Thr)
c.116A>C (p.Lys39Thr)
c.1091A>C (p.Lys364Thr)
n.250A>C
3g.128481829_128481836dupCA1139771361GATA2c.1126_1133dup (p.Lys378AsnfsTer12)
c.1408_1415dup (p.Lys472AsnfsTer12)
c.109_116dup (p.Lys39AsnfsTer?)
c.1084_1091dup (p.Lys364AsnfsTer12)
n.243_250dup
 ClinVar dbSNP
3g.128481830T>ACA354413469GATA2c.1132A>T (p.Lys378Ter)
c.1414A>T (p.Lys472Ter)
c.115A>T (p.Lys39Ter)
c.1090A>T (p.Lys364Ter)
n.249A>T
 ClinVar dbSNP
3g.128481830T>CCA354413470GATA2c.1132A>G (p.Lys378Glu)
c.1414A>G (p.Lys472Glu)
c.115A>G (p.Lys39Glu)
c.1090A>G (p.Lys364Glu)
n.249A>G
3g.128481830T>GCA354413471GATA2c.1132A>C (p.Lys378Gln)
c.1414A>C (p.Lys472Gln)
c.115A>C (p.Lys39Gln)
c.1090A>C (p.Lys364Gln)
n.249A>C
3g.128481831G>ACA435525521GATA2c.1131C>T (p.Tyr377=)
c.1413C>T (p.Tyr471=)
c.114C>T (p.Tyr38=)
c.1089C>T (p.Tyr363=)
n.248C>T
3g.128481831G>CCA354413472GATA2c.1131C>G (p.Tyr377Ter)
c.1413C>G (p.Tyr471Ter)
c.114C>G (p.Tyr38Ter)
c.1089C>G (p.Tyr363Ter)
n.248C>G
3g.128481831G>TCA354413473GATA2c.1131C>A (p.Tyr377Ter)
c.1413C>A (p.Tyr471Ter)
c.114C>A (p.Tyr38Ter)
c.1089C>A (p.Tyr363Ter)
n.248C>A
3g.128481835_128481837delCA2577890722GATA2c.1129_1131del (p.Tyr377del)
c.1411_1413del (p.Tyr471del)
c.112_114del (p.Tyr38del)
c.1087_1089del (p.Tyr363del)
n.246_248del
3g.128481832_128481846delCA2499216429GATA2c.1117_1131del (p.Cys373_Tyr377del)
c.1399_1413del (p.Cys467_Tyr471del)
c.100_114del (p.Cys34_Tyr38del)
c.1075_1089del (p.Cys359_Tyr363del)
n.234_248del
 ClinVar dbSNP
3g.128481832T>ACA354413475GATA2c.1130A>T (p.Tyr377Phe)
c.1412A>T (p.Tyr471Phe)
c.113A>T (p.Tyr38Phe)
c.1088A>T (p.Tyr363Phe)
n.247A>T
3g.128481832T>CCA354413476GATA2c.1130A>G (p.Tyr377Cys)
c.1412A>G (p.Tyr471Cys)
c.113A>G (p.Tyr38Cys)
c.1088A>G (p.Tyr363Cys)
n.247A>G
3g.128481832T>GCA354413474GATA2c.1130A>C (p.Tyr377Ser)
c.1412A>C (p.Tyr471Ser)
c.113A>C (p.Tyr38Ser)
c.1088A>C (p.Tyr363Ser)
n.247A>C
3g.128481833A>CCA354413477GATA2c.1129T>G (p.Tyr377Asp)
c.1411T>G (p.Tyr471Asp)
c.112T>G (p.Tyr38Asp)
c.1087T>G (p.Tyr363Asp)
n.246T>G
 ClinVar dbSNP
3g.128481833A>GCA354413478GATA2c.1129T>C (p.Tyr377His)
c.1411T>C (p.Tyr471His)
c.112T>C (p.Tyr38His)
c.1087T>C (p.Tyr363His)
n.246T>C
 gnomAD v4
3g.128481833A>TCA354413479GATA2c.1129T>A (p.Tyr377Asn)
c.1411T>A (p.Tyr471Asn)
c.112T>A (p.Tyr38Asn)
c.1087T>A (p.Tyr363Asn)
n.246T>A
3g.128481834G>ACA2599865GATA2c.1128C>T (p.Tyr376=)
c.1410C>T (p.Tyr470=)
c.111C>T (p.Tyr37=)
c.1086C>T (p.Tyr362=)
n.245C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.128481834G>CCA354413480GATA2c.1128C>G (p.Tyr376Ter)
c.1410C>G (p.Tyr470Ter)
c.111C>G (p.Tyr37Ter)
c.1086C>G (p.Tyr362Ter)
n.245C>G
 ClinVar dbSNP
3g.128481834G=CA1400715043GATA2c.1128C= (p.Tyr376=)
c.1410C= (p.Tyr470=)
c.111C= (p.Tyr37=)
c.1086C= (p.Tyr362=)
n.245C=
3g.128481834G>TCA354413481GATA2c.1128C>A (p.Tyr376Ter)
c.1410C>A (p.Tyr470Ter)
c.111C>A (p.Tyr37Ter)
c.1086C>A (p.Tyr362Ter)
n.245C>A
 ClinVar dbSNP
3g.128481835T>ACA354413482GATA2c.1127A>T (p.Tyr376Phe)
c.1409A>T (p.Tyr470Phe)
c.110A>T (p.Tyr37Phe)
c.1085A>T (p.Tyr362Phe)
n.244A>T
3g.128481835T>CCA354413483GATA2c.1127A>G (p.Tyr376Cys)
c.1409A>G (p.Tyr470Cys)
c.110A>G (p.Tyr37Cys)
c.1085A>G (p.Tyr362Cys)
n.244A>G
3g.128481835T>GCA354413484GATA2c.1127A>C (p.Tyr376Ser)
c.1409A>C (p.Tyr470Ser)
c.110A>C (p.Tyr37Ser)
c.1085A>C (p.Tyr362Ser)
n.244A>C
3g.128481836A=CA1400715048GATA2c.1126T= (p.Tyr376=)
c.1408T= (p.Tyr470=)
c.109T= (p.Tyr37=)
c.1084T= (p.Tyr362=)
n.243T=
3g.128481836A>CCA354413485GATA2c.1126T>G (p.Tyr376Asp)
c.1408T>G (p.Tyr470Asp)
c.109T>G (p.Tyr37Asp)
c.1084T>G (p.Tyr362Asp)
n.243T>G
3g.128481836A>GCA354413486GATA2c.1126T>C (p.Tyr376His)
c.1408T>C (p.Tyr470His)
c.109T>C (p.Tyr37His)
c.1084T>C (p.Tyr362His)
n.243T>C
3g.128481836A>TCA354413487GATA2c.1126T>A (p.Tyr376Asn)
c.1408T>A (p.Tyr470Asn)
c.109T>A (p.Tyr37Asn)
c.1084T>A (p.Tyr362Asn)
n.243T>A
3g.128481837G>ACA435525524GATA2c.1125C>T (p.Leu375=)
c.1407C>T (p.Leu469=)
c.108C>T (p.Leu36=)
c.1083C>T (p.Leu361=)
n.242C>T
 COSMIC
3g.128481837G>CCA435525525GATA2c.1125C>G (p.Leu375=)
c.1407C>G (p.Leu469=)
c.108C>G (p.Leu36=)
c.1083C>G (p.Leu361=)
n.242C>G
 ClinVar
3g.128481837G>TCA435525526GATA2c.1125C>A (p.Leu375=)
c.1407C>A (p.Leu469=)
c.108C>A (p.Leu36=)
c.1083C>A (p.Leu361=)
n.242C>A

Number of alleles fetched