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.128481818C>ACA354413441GATA2c.1143+1G>T (n.1143+1G>T)
c.1425+1G>T (n.1425+1G>T)
c.126+1G>T (n.126+1G>T)
c.1101+1G>T (n.1101+1G>T)
n.260+1G>T
3g.128481818C>GCA354413442GATA2c.1143+1G>C (n.1143+1G>C)
c.1425+1G>C (n.1425+1G>C)
c.126+1G>C (n.126+1G>C)
c.1101+1G>C (n.1101+1G>C)
n.260+1G>C
3g.128481818C>TCA354413443GATA2c.1143+1G>A (n.1143+1G>A)
c.1425+1G>A (n.1425+1G>A)
c.126+1G>A (n.126+1G>A)
c.1101+1G>A (n.1101+1G>A)
n.260+1G>A
3g.128481819A=CA1400715023GATA2c.1143T= (p.Asn381=)
c.1425T= (p.Asn475=)
c.126T= (p.Asn42=)
c.1101T= (p.Asn367=)
n.260T=
3g.128481819A>CCA354413444GATA2c.1143T>G (p.Asn381Lys)
c.1425T>G (p.Asn475Lys)
c.126T>G (p.Asn42Lys)
c.1101T>G (p.Asn367Lys)
n.260T>G
3g.128481819A>GCA435525512GATA2c.1143T>C (p.Asn381=)
c.1425T>C (p.Asn475=)
c.126T>C (p.Asn42=)
c.1101T>C (p.Asn367=)
n.260T>C
 ClinVar dbSNP gnomAD v4
3g.128481819A>TCA354413445GATA2c.1143T>A (p.Asn381Lys)
c.1425T>A (p.Asn475Lys)
c.126T>A (p.Asn42Lys)
c.1101T>A (p.Asn367Lys)
n.260T>A
3g.128481820T>ACA354413446GATA2c.1142A>T (p.Asn381Ile)
c.1424A>T (p.Asn475Ile)
c.125A>T (p.Asn42Ile)
c.1100A>T (p.Asn367Ile)
n.259A>T
3g.128481820T>CCA354413448GATA2c.1142A>G (p.Asn381Ser)
c.1424A>G (p.Asn475Ser)
c.125A>G (p.Asn42Ser)
c.1100A>G (p.Asn367Ser)
n.259A>G
 dbSNP
3g.128481820T>GCA354413447GATA2c.1142A>C (p.Asn381Thr)
c.1424A>C (p.Asn475Thr)
c.125A>C (p.Asn42Thr)
c.1100A>C (p.Asn367Thr)
n.259A>C
3g.128481820T=CA1400715026GATA2c.1142A= (p.Asn381=)
c.1424A= (p.Asn475=)
c.125A= (p.Asn42=)
c.1100A= (p.Asn367=)
n.259A=
3g.128481821delCA2499216428GATA2c.1142del (p.Asn381MetfsTer6)
c.1424del (p.Asn475MetfsTer6)
c.125del (p.Asn42MetfsTer?)
c.1100del (p.Asn367MetfsTer6)
n.259del
 ClinVar dbSNP
3g.128481821T>ACA354413449GATA2c.1141A>T (p.Asn381Tyr)
c.1423A>T (p.Asn475Tyr)
c.124A>T (p.Asn42Tyr)
c.1099A>T (p.Asn367Tyr)
n.258A>T
3g.128481821T>CCA354413451GATA2c.1141A>G (p.Asn381Asp)
c.1423A>G (p.Asn475Asp)
c.124A>G (p.Asn42Asp)
c.1099A>G (p.Asn367Asp)
n.258A>G
 ClinVar
3g.128481821T>GCA354413450GATA2c.1141A>C (p.Asn381His)
c.1423A>C (p.Asn475His)
c.124A>C (p.Asn42His)
c.1099A>C (p.Asn367His)
n.258A>C
3g.128481822G>ACA435525514GATA2c.1140C>T (p.His380=)
c.1422C>T (p.His474=)
c.123C>T (p.His41=)
c.1098C>T (p.His366=)
n.257C>T
 ClinVar dbSNP
3g.128481822G>CCA354413452GATA2c.1140C>G (p.His380Gln)
c.1422C>G (p.His474Gln)
c.123C>G (p.His41Gln)
c.1098C>G (p.His366Gln)
n.257C>G
3g.128481822G>TCA354413453GATA2c.1140C>A (p.His380Gln)
c.1422C>A (p.His474Gln)
c.123C>A (p.His41Gln)
c.1098C>A (p.His366Gln)
n.257C>A
3g.128481823T>ACA354413454GATA2c.1139A>T (p.His380Leu)
c.1421A>T (p.His474Leu)
c.122A>T (p.His41Leu)
c.1097A>T (p.His366Leu)
n.256A>T
3g.128481823T>CCA354413455GATA2c.1139A>G (p.His380Arg)
c.1421A>G (p.His474Arg)
c.122A>G (p.His41Arg)
c.1097A>G (p.His366Arg)
n.256A>G
3g.128481823T>GCA354413456GATA2c.1139A>C (p.His380Pro)
c.1421A>C (p.His474Pro)
c.122A>C (p.His41Pro)
c.1097A>C (p.His366Pro)
n.256A>C
3g.128481824G>ACA354413457GATA2c.1138C>T (p.His380Tyr)
c.1420C>T (p.His474Tyr)
c.121C>T (p.His41Tyr)
c.1096C>T (p.His366Tyr)
n.255C>T
3g.128481824G>CCA354413458GATA2c.1138C>G (p.His380Asp)
c.1420C>G (p.His474Asp)
c.121C>G (p.His41Asp)
c.1096C>G (p.His366Asp)
n.255C>G
3g.128481824G>TCA354413459GATA2c.1138C>A (p.His380Asn)
c.1420C>A (p.His474Asn)
c.121C>A (p.His41Asn)
c.1096C>A (p.His366Asn)
n.255C>A
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

Number of alleles fetched