UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128481827_128481853dup | CA2667540511 | GATA2 | c.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 |
| 3 | g.128481832_128481846del | CA2499216429 | GATA2 | c.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 |
| 3 | g.128481837_128481840dup | CA279032 | GATA2 | c.1122_1125dup (p.Tyr376ProfsTer9) c.1404_1407dup (p.Tyr470ProfsTer9) c.105_108dup (p.Tyr37ProfsTer10) c.1080_1083dup (p.Tyr362ProfsTer9) n.239_242dup | ClinVar dbSNP |
| 3 | g.128481840G>A | CA83376533 | GATA2 | c.1122C>T (p.Gly374=) c.1404C>T (p.Gly468=) c.105C>T (p.Gly35=) c.1080C>T (p.Gly360=) n.239C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481840G>C | CA435525529 | GATA2 | c.1122C>G (p.Gly374=) c.1404C>G (p.Gly468=) c.105C>G (p.Gly35=) c.1080C>G (p.Gly360=) n.239C>G | |
| 3 | g.128481840G= | CA1400715056 | GATA2 | c.1122C= (p.Gly374=) c.1404C= (p.Gly468=) c.105C= (p.Gly35=) c.1080C= (p.Gly360=) n.239C= | |
| 3 | g.128481840G>T | CA435525530 | GATA2 | c.1122C>A (p.Gly374=) c.1404C>A (p.Gly468=) c.105C>A (p.Gly35=) c.1080C>A (p.Gly360=) n.239C>A | |
| 3 | g.128481841C>A | CA354413494 | GATA2 | c.1121G>T (p.Gly374Val) c.1403G>T (p.Gly468Val) c.104G>T (p.Gly35Val) c.1079G>T (p.Gly360Val) n.238G>T | |
| 3 | g.128481841C= | CA1400715060 | GATA2 | c.1121G= (p.Gly374=) c.1403G= (p.Gly468=) c.104G= (p.Gly35=) c.1079G= (p.Gly360=) n.238G= | |
| 3 | g.128481841C>G | CA354413495 | GATA2 | c.1121G>C (p.Gly374Ala) c.1403G>C (p.Gly468Ala) c.104G>C (p.Gly35Ala) c.1079G>C (p.Gly360Ala) n.238G>C | |
| 3 | g.128481841C>T | CA354413496 | GATA2 | c.1121G>A (p.Gly374Asp) c.1403G>A (p.Gly468Asp) c.104G>A (p.Gly35Asp) c.1079G>A (p.Gly360Asp) n.238G>A | ClinVar dbSNP |
| 3 | g.128481842C>A | CA354413497 | GATA2 | c.1120G>T (p.Gly374Cys) c.1402G>T (p.Gly468Cys) c.103G>T (p.Gly35Cys) c.1078G>T (p.Gly360Cys) n.237G>T | |
| 3 | g.128481842C>G | CA354413498 | GATA2 | c.1120G>C (p.Gly374Arg) c.1402G>C (p.Gly468Arg) c.103G>C (p.Gly35Arg) c.1078G>C (p.Gly360Arg) n.237G>C | |
| 3 | g.128481842C>T | CA354413499 | GATA2 | c.1120G>A (p.Gly374Ser) c.1402G>A (p.Gly468Ser) c.103G>A (p.Gly35Ser) c.1078G>A (p.Gly360Ser) n.237G>A | |
| 3 | g.128481843A= | CA1400715062 | GATA2 | c.1119T= (p.Cys373=) c.1401T= (p.Cys467=) c.102T= (p.Cys34=) c.1077T= (p.Cys359=) n.236T= | |
| 3 | g.128481843A>C | CA354413500 | GATA2 | c.1119T>G (p.Cys373Trp) c.1401T>G (p.Cys467Trp) c.102T>G (p.Cys34Trp) c.1077T>G (p.Cys359Trp) n.236T>G | |
| 3 | g.128481843A>G | CA435525531 | GATA2 | c.1119T>C (p.Cys373=) c.1401T>C (p.Cys467=) c.102T>C (p.Cys34=) c.1077T>C (p.Cys359=) n.236T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481843A>T | CA354413501 | GATA2 | c.1119T>A (p.Cys373Ter) c.1401T>A (p.Cys467Ter) c.102T>A (p.Cys34Ter) c.1077T>A (p.Cys359Ter) n.236T>A | |
| 3 | g.128481843dup | CA2759522112 | GATA2 | c.1119dup (p.Gly374TrpfsTer10) c.1401dup (p.Gly468TrpfsTer10) c.102dup (p.Gly35TrpfsTer11) c.1077dup (p.Gly360TrpfsTer10) n.236dup | |
| 3 | g.128481843_128481845delinsCCC | CA2586965857 | GATA2 | c.1117_1119delinsGGG (p.Cys373Gly) c.1399_1401delinsGGG (p.Cys467Gly) c.100_102delinsGGG (p.Cys34Gly) c.1075_1077delinsGGG (p.Cys359Gly) n.234_236delinsGGG | |
| 3 | g.128481844C>A | CA354413503 | GATA2 | c.1118G>T (p.Cys373Phe) c.1400G>T (p.Cys467Phe) c.101G>T (p.Cys34Phe) c.1076G>T (p.Cys359Phe) n.235G>T | |
| 3 | g.128481844C>G | CA354413504 | GATA2 | c.1118G>C (p.Cys373Ser) c.1400G>C (p.Cys467Ser) c.101G>C (p.Cys34Ser) c.1076G>C (p.Cys359Ser) n.235G>C | |
| 3 | g.128481844C>T | CA354413502 | GATA2 | c.1118G>A (p.Cys373Tyr) c.1400G>A (p.Cys467Tyr) c.101G>A (p.Cys34Tyr) c.1076G>A (p.Cys359Tyr) n.235G>A | ClinVar dbSNP |
| 3 | g.128481844dup | CA2759522111 | GATA2 | c.1118dup (p.Cys373TrpfsTer11) c.1400dup (p.Cys467TrpfsTer11) c.101dup (p.Cys34TrpfsTer12) c.1076dup (p.Cys359TrpfsTer11) n.235dup | |
| 3 | g.128481845A= | CA1400715068 | GATA2 | c.1117T= (p.Cys373=) c.1399T= (p.Cys467=) c.100T= (p.Cys34=) c.1075T= (p.Cys359=) n.234T= | |
| 3 | g.128481845A>C | CA354413505 | GATA2 | c.1117T>G (p.Cys373Gly) c.1399T>G (p.Cys467Gly) c.100T>G (p.Cys34Gly) c.1075T>G (p.Cys359Gly) n.234T>G | |
| 3 | g.128481845A>G | CA128589 | GATA2 | c.1117T>C (p.Cys373Arg) c.1399T>C (p.Cys467Arg) c.100T>C (p.Cys34Arg) c.1075T>C (p.Cys359Arg) n.234T>C | ClinVar dbSNP |
| 3 | g.128481845A>T | CA354413506 | GATA2 | c.1117T>A (p.Cys373Ser) c.1399T>A (p.Cys467Ser) c.100T>A (p.Cys34Ser) c.1075T>A (p.Cys359Ser) n.234T>A | |
| 3 | g.128481845dup | CA2759522110 | GATA2 | c.1117dup (p.Cys373LeufsTer11) c.1399dup (p.Cys467LeufsTer11) c.100dup (p.Cys34LeufsTer12) c.1075dup (p.Cys359LeufsTer11) n.234dup | |
| 3 | g.128481845_128482000delinsGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239087 | GATA2 | c.1018-56_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1300-56_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC c.1018-98_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC n.79_234delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCC | |
| 3 | g.128481845_128482345delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239779 | GATA2 | c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG c.1300-401_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG c.1018-443_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | |
| 3 | g.128481845_128483001delinsCCCTGCCCCCGCGGCTGCAGTCCCTCTGTCCCTTCTGTGACCAGGCTTGGGCCTGGGGCTGTTCCAGGCTCTGCAGGCCTCAGCCCCCAGCCCCCCACACTCACCACCTGGTGCACTCCCGCCTGCAGTTCTCTGGGAAGTGTTGGGGGACCCCCTCTGTCACTGTGGGGCTGGCGTTGGTGGAACCGGGAGAGGGGATCTGTTTTCTTGGGTAAAGCCTCCCTCTAGCTTCTCTCTGCAAGGACCAGGCGCTCATTTCCAGACCCTACCTCTGCCAGGCATTTCCTGAGGGACTAGGACTCAGAGGGGCTGCGGGGTGGTTAAAGCTCTAAGGGTTGGGGTATGGGGGGCTGGATGGGGGGGATCAGCACTCACATCAGCTGGAGAGATGGAAAAGTTCTGTGTCTGCACTGCCCACTGTGGTAGCCCCTGGCCACATGTGAATATTGATCACTTGAAATGTGGCTCGTGCAATTGAGGGAACTGGGTTTTTAATTTTGTTAATTTGTAGTTAGATCTTATTTAAATGGCTGCCTGTGGCCAGCTGCTACAGTGTTGGACGGTGCAGCTCTGCACTCTGTAAACCTGCGCTGGCCTCAGCGACACTGACTCACCCAGGATTATGGATTTTGAGCGGAGTCGTGCTAGAGGAGACACAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | CA2695239089 | GATA2 | c.1017+859_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG c.1299+859_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG c.1017+859_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTGTGTCTCCTCTAGCACGACTCCGCTCAAAATCCATAATCCTGGGTGAGTCAGTGTCGCTGAGGCCAGCGCAGGTTTACAGAGTGCAGAGCTGCACCGTCCAACACTGTAGCAGCTGGCCACAGGCAGCCATTTAAATAAGATCTAACTACAAATTAACAAAATTAAAAACCCAGTTCCCTCAATTGCACGAGCCACATTTCAAGTGATCAATATTCACATGTGGCCAGGGGCTACCACAGTGGGCAGTGCAGACACAGAACTTTTCCATCTCTCCAGCTGATGTGAGTGCTGATCCCCCCCATCCAGCCCCCCATACCCCAACCCTTAGAGCTTTAACCACCCCGCAGCCCCTCTGAGTCCTAGTCCCTCAGGAAATGCCTGGCAGAGGTAGGGTCTGGAAATGAGCGCCTGGTCCTTGCAGAGAGAAGCTAGAGGGAGGCTTTACCCAAGAAAACAGATCCCCTCTCCCGGTTCCACCAACGCCAGCCCCACAGTGACAGAGGGGGTCCCCCAACACTTCCCAGAGAACTGCAGGCGGGAGTGCACCAGGTGGTGAGTGTGGGGGGCTGGGGGCTGAGGCCTGCAGAGCCTGGAACAGCCCCAGGCCCAAGCCTGGTCACAGAAGGGACAGAGGGACTGCAGCCGCGGGGGCAGGG | |
| 3 | g.128481845_128484000dup | CA2695239090 | GATA2 | c.877_1117dup c.1159_1399dup c.877_1075dup | |
| 3 | g.128481846G>A | CA435525535 | GATA2 | c.1116C>T (p.Ala372=) c.1398C>T (p.Ala466=) c.99C>T (p.Ala33=) c.1074C>T (p.Ala358=) n.233C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481846G>C | CA435525536 | GATA2 | c.1116C>G (p.Ala372=) c.1398C>G (p.Ala466=) c.99C>G (p.Ala33=) c.1074C>G (p.Ala358=) n.233C>G | |
| 3 | g.128481846G>T | CA435525537 | GATA2 | c.1116C>A (p.Ala372=) c.1398C>A (p.Ala466=) c.99C>A (p.Ala33=) c.1074C>A (p.Ala358=) n.233C>A | |
| 3 | g.128481847dup | CA2759522107 | GATA2 | c.1116dup (p.Cys373LeufsTer11) c.1398dup (p.Cys467LeufsTer11) c.99dup (p.Cys34LeufsTer12) c.1074dup (p.Cys359LeufsTer11) n.233dup | |
| 3 | g.128481847G>A | CA354413507 | GATA2 | c.1115C>T (p.Ala372Val) c.1397C>T (p.Ala466Val) c.98C>T (p.Ala33Val) c.1073C>T (p.Ala358Val) n.232C>T | COSMIC |
| 3 | g.128481847G>C | CA354413508 | GATA2 | c.1115C>G (p.Ala372Gly) c.1397C>G (p.Ala466Gly) c.98C>G (p.Ala33Gly) c.1073C>G (p.Ala358Gly) n.232C>G | |
| 3 | g.128481847G>T | CA354413509 | GATA2 | c.1115C>A (p.Ala372Asp) c.1397C>A (p.Ala466Asp) c.98C>A (p.Ala33Asp) c.1073C>A (p.Ala358Asp) n.232C>A | |
| 3 | g.128481848C>A | CA354413510 | GATA2 | c.1114G>T (p.Ala372Ser) c.1396G>T (p.Ala466Ser) c.97G>T (p.Ala33Ser) c.1072G>T (p.Ala358Ser) n.231G>T | gnomAD v4 |
| 3 | g.128481848C= | CA1400715074 | GATA2 | c.1114G= (p.Ala372=) c.1396G= (p.Ala466=) c.97G= (p.Ala33=) c.1072G= (p.Ala358=) n.231G= | |
| 3 | g.128481848C>G | CA83376538 | GATA2 | c.1114G>C (p.Ala372Pro) c.1396G>C (p.Ala466Pro) c.97G>C (p.Ala33Pro) c.1072G>C (p.Ala358Pro) n.231G>C | dbSNP |
| 3 | g.128481848C>T | CA354413511 | GATA2 | c.1114G>A (p.Ala372Thr) c.1396G>A (p.Ala466Thr) c.97G>A (p.Ala33Thr) c.1072G>A (p.Ala358Thr) n.231G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128481848dup | CA2759522106 | GATA2 | c.1114dup (p.Ala372GlyfsTer12) c.1396dup (p.Ala466GlyfsTer12) c.97dup (p.Ala33GlyfsTer13) c.1072dup (p.Ala358GlyfsTer12) n.231dup | |
| 3 | g.128481849del | CA2499216431 | GATA2 | c.1113del (p.Asn371LysfsTer16) c.1395del (p.Asn465LysfsTer16) c.96del (p.Asn32LysfsTer?) c.1071del (p.Asn357LysfsTer16) n.230del | ClinVar dbSNP |
| 3 | g.128481849G>A | CA2599866 | GATA2 | c.1113C>T (p.Asn371=) c.1395C>T (p.Asn465=) c.96C>T (p.Asn32=) c.1071C>T (p.Asn357=) n.230C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481849G>C | CA354413512 | GATA2 | c.1113C>G (p.Asn371Lys) c.1395C>G (p.Asn465Lys) c.96C>G (p.Asn32Lys) c.1071C>G (p.Asn357Lys) n.230C>G | ClinVar dbSNP |
| 3 | g.128481849G= | CA1400715088 | GATA2 | c.1113C= (p.Asn371=) c.1395C= (p.Asn465=) c.96C= (p.Asn32=) c.1071C= (p.Asn357=) n.230C= | |
| 3 | g.128481849G>T | CA210024 | GATA2 | c.1113C>A (p.Asn371Lys) c.1395C>A (p.Asn465Lys) c.96C>A (p.Asn32Lys) c.1071C>A (p.Asn357Lys) n.230C>A | ClinVar dbSNP |
| 3 | g.128481849dup | CA2580610854 | GATA2 | c.1113dup (p.Ala372ArgfsTer12) c.1395dup (p.Ala466ArgfsTer12) c.96dup (p.Ala33ArgfsTer13) c.1071dup (p.Ala358ArgfsTer12) n.230dup | |
| 3 | g.128481850T>A | CA354413513 | GATA2 | c.1112A>T (p.Asn371Ile) c.1394A>T (p.Asn465Ile) c.95A>T (p.Asn32Ile) c.1070A>T (p.Asn357Ile) n.229A>T | |
| 3 | g.128481850T>C | CA354413514 | GATA2 | c.1112A>G (p.Asn371Ser) c.1394A>G (p.Asn465Ser) c.95A>G (p.Asn32Ser) c.1070A>G (p.Asn357Ser) n.229A>G | |
| 3 | g.128481850T>G | CA354413515 | GATA2 | c.1112A>C (p.Asn371Thr) c.1394A>C (p.Asn465Thr) c.95A>C (p.Asn32Thr) c.1070A>C (p.Asn357Thr) n.229A>C | |
| 3 | g.128481851T>A | CA354413518 | GATA2 | c.1111A>T (p.Asn371Tyr) c.1393A>T (p.Asn465Tyr) c.94A>T (p.Asn32Tyr) c.1069A>T (p.Asn357Tyr) n.228A>T | |
| 3 | g.128481851T>C | CA354413516 | GATA2 | c.1111A>G (p.Asn371Asp) c.1393A>G (p.Asn465Asp) c.94A>G (p.Asn32Asp) c.1069A>G (p.Asn357Asp) n.228A>G | |
| 3 | g.128481851T>G | CA354413517 | GATA2 | c.1111A>C (p.Asn371His) c.1393A>C (p.Asn465His) c.94A>C (p.Asn32His) c.1069A>C (p.Asn357His) n.228A>C | |
| 3 | g.128481852G>A | CA435525541 | GATA2 | c.1110C>T (p.Cys370=) c.1392C>T (p.Cys464=) c.93C>T (p.Cys31=) c.1068C>T (p.Cys356=) n.227C>T | |
| 3 | g.128481852G>C | CA354413519 | GATA2 | c.1110C>G (p.Cys370Trp) c.1392C>G (p.Cys464Trp) c.93C>G (p.Cys31Trp) c.1068C>G (p.Cys356Trp) n.227C>G | ClinVar dbSNP |
| 3 | g.128481852G>T | CA354413520 | GATA2 | c.1110C>A (p.Cys370Ter) c.1392C>A (p.Cys464Ter) c.93C>A (p.Cys31Ter) c.1068C>A (p.Cys356Ter) n.227C>A | |
| 3 | g.128481853C>A | CA354413521 | GATA2 | c.1109G>T (p.Cys370Phe) c.1391G>T (p.Cys464Phe) c.92G>T (p.Cys31Phe) c.1067G>T (p.Cys356Phe) n.226G>T | |
| 3 | g.128481853C>G | CA354413522 | GATA2 | c.1109G>C (p.Cys370Ser) c.1391G>C (p.Cys464Ser) c.92G>C (p.Cys31Ser) c.1067G>C (p.Cys356Ser) n.226G>C | |
| 3 | g.128481853C>T | CA354413523 | GATA2 | c.1109G>A (p.Cys370Tyr) c.1391G>A (p.Cys464Tyr) c.92G>A (p.Cys31Tyr) c.1067G>A (p.Cys356Tyr) n.226G>A | ClinVar |
| 3 | g.128481854A>C | CA354413524 | GATA2 | c.1108T>G (p.Cys370Gly) c.1390T>G (p.Cys464Gly) c.91T>G (p.Cys31Gly) c.1066T>G (p.Cys356Gly) n.225T>G | |
| 3 | g.128481854A>G | CA354413525 | GATA2 | c.1108T>C (p.Cys370Arg) c.1390T>C (p.Cys464Arg) c.91T>C (p.Cys31Arg) c.1066T>C (p.Cys356Arg) n.225T>C | |
| 3 | g.128481854A>T | CA354413526 | GATA2 | c.1108T>A (p.Cys370Ser) c.1390T>A (p.Cys464Ser) c.91T>A (p.Cys31Ser) c.1066T>A (p.Cys356Ser) n.225T>A | |
| 3 | g.128481855G>A | CA435525543 | GATA2 | c.1107C>T (p.Val369=) c.1389C>T (p.Val463=) c.90C>T (p.Val30=) c.1065C>T (p.Val355=) n.224C>T | ClinVar dbSNP |
| 3 | g.128481855G>C | CA435525545 | GATA2 | c.1107C>G (p.Val369=) c.1389C>G (p.Val463=) c.90C>G (p.Val30=) c.1065C>G (p.Val355=) n.224C>G | |
| 3 | g.128481855G>T | CA435525546 | GATA2 | c.1107C>A (p.Val369=) c.1389C>A (p.Val463=) c.90C>A (p.Val30=) c.1065C>A (p.Val355=) n.224C>A | |
| 3 | g.128481856A>C | CA354413527 | GATA2 | c.1106T>G (p.Val369Gly) c.1388T>G (p.Val463Gly) c.89T>G (p.Val30Gly) c.1064T>G (p.Val355Gly) n.223T>G | |
| 3 | g.128481856A>G | CA354413528 | GATA2 | c.1106T>C (p.Val369Ala) c.1388T>C (p.Val463Ala) c.89T>C (p.Val30Ala) c.1064T>C (p.Val355Ala) n.223T>C | |
| 3 | g.128481856A>T | CA354413529 | GATA2 | c.1106T>A (p.Val369Asp) c.1388T>A (p.Val463Asp) c.89T>A (p.Val30Asp) c.1064T>A (p.Val355Asp) n.223T>A | |
| 3 | g.128481857C>A | CA354413531 | GATA2 | c.1105G>T (p.Val369Phe) c.1387G>T (p.Val463Phe) c.88G>T (p.Val30Phe) c.1063G>T (p.Val355Phe) n.222G>T | |
| 3 | g.128481857C>G | CA354413532 | GATA2 | c.1105G>C (p.Val369Leu) c.1387G>C (p.Val463Leu) c.88G>C (p.Val30Leu) c.1063G>C (p.Val355Leu) n.222G>C | |
| 3 | g.128481857C>T | CA354413530 | GATA2 | c.1105G>A (p.Val369Ile) c.1387G>A (p.Val463Ile) c.88G>A (p.Val30Ile) c.1063G>A (p.Val355Ile) n.222G>A | |
| 3 | g.128481858A>C | CA435525547 | GATA2 | c.1104T>G (p.Pro368=) c.1386T>G (p.Pro462=) c.87T>G (p.Pro29=) c.1062T>G (p.Pro354=) n.221T>G | |
| 3 | g.128481858A>G | CA435525548 | GATA2 | c.1104T>C (p.Pro368=) c.1386T>C (p.Pro462=) c.87T>C (p.Pro29=) c.1062T>C (p.Pro354=) n.221T>C | |
| 3 | g.128481858A>T | CA435525549 | GATA2 | c.1104T>A (p.Pro368=) c.1386T>A (p.Pro462=) c.87T>A (p.Pro29=) c.1062T>A (p.Pro354=) n.221T>A | |
| 3 | g.128481858_128481859del | CA2499216432 | GATA2 | c.1103_1104del (p.Pro368ArgfsTer15) c.1385_1386del (p.Pro462ArgfsTer15) c.86_87del (p.Pro29ArgfsTer16) c.1061_1062del (p.Pro354ArgfsTer15) n.220_221del | ClinVar dbSNP |
| 3 | g.128481859G>A | CA354413533 | GATA2 | c.1103C>T (p.Pro368Leu) c.1385C>T (p.Pro462Leu) c.86C>T (p.Pro29Leu) c.1061C>T (p.Pro354Leu) n.220C>T | |
| 3 | g.128481859G>C | CA354413534 | GATA2 | c.1103C>G (p.Pro368Arg) c.1385C>G (p.Pro462Arg) c.86C>G (p.Pro29Arg) c.1061C>G (p.Pro354Arg) n.220C>G | |
| 3 | g.128481859G>T | CA354413535 | GATA2 | c.1103C>A (p.Pro368His) c.1385C>A (p.Pro462His) c.86C>A (p.Pro29His) c.1061C>A (p.Pro354His) n.220C>A | |
| 3 | g.128481860G>A | CA354413536 | GATA2 | c.1102C>T (p.Pro368Ser) c.1384C>T (p.Pro462Ser) c.85C>T (p.Pro29Ser) c.1060C>T (p.Pro354Ser) n.219C>T | ClinVar dbSNP |
| 3 | g.128481860G>C | CA354413537 | GATA2 | c.1102C>G (p.Pro368Ala) c.1384C>G (p.Pro462Ala) c.85C>G (p.Pro29Ala) c.1060C>G (p.Pro354Ala) n.219C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481860G= | CA1400715092 | GATA2 | c.1102C= (p.Pro368=) c.1384C= (p.Pro462=) c.85C= (p.Pro29=) c.1060C= (p.Pro354=) n.219C= | |
| 3 | g.128481860G>T | CA354413538 | GATA2 | c.1102C>A (p.Pro368Thr) c.1384C>A (p.Pro462Thr) c.85C>A (p.Pro29Thr) c.1060C>A (p.Pro354Thr) n.219C>A | |
| 3 | g.128481861G>A | CA2599867 | GATA2 | c.1101C>T (p.Asp367=) c.1383C>T (p.Asp461=) c.84C>T (p.Asp28=) c.1059C>T (p.Asp353=) n.218C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481861G>C | CA354413539 | GATA2 | c.1101C>G (p.Asp367Glu) c.1383C>G (p.Asp461Glu) c.84C>G (p.Asp28Glu) c.1059C>G (p.Asp353Glu) n.218C>G | |
| 3 | g.128481861G= | CA1400715096 | GATA2 | c.1101C= (p.Asp367=) c.1383C= (p.Asp461=) c.84C= (p.Asp28=) c.1059C= (p.Asp353=) n.218C= | |
| 3 | g.128481861G>T | CA354413540 | GATA2 | c.1101C>A (p.Asp367Glu) c.1383C>A (p.Asp461Glu) c.84C>A (p.Asp28Glu) c.1059C>A (p.Asp353Glu) n.218C>A | gnomAD v4 COSMIC |
| 3 | g.128481862T>A | CA354413541 | GATA2 | c.1100A>T (p.Asp367Val) c.1382A>T (p.Asp461Val) c.83A>T (p.Asp28Val) c.1058A>T (p.Asp353Val) n.217A>T | |
| 3 | g.128481862T>C | CA354413542 | GATA2 | c.1100A>G (p.Asp367Gly) c.1382A>G (p.Asp461Gly) c.83A>G (p.Asp28Gly) c.1058A>G (p.Asp353Gly) n.217A>G | gnomAD v4 |
| 3 | g.128481862T>G | CA354413543 | GATA2 | c.1100A>C (p.Asp367Ala) c.1382A>C (p.Asp461Ala) c.83A>C (p.Asp28Ala) c.1058A>C (p.Asp353Ala) n.217A>C | |
| 3 | g.128481862_128481864del | CA2586965863 | GATA2 | c.1098_1100del (p.Asp367del) c.1380_1382del (p.Asp461del) c.81_83del (p.Asp28del) c.1056_1058del (p.Asp353del) n.215_217del | |
| 3 | g.128481863C>A | CA354413545 | GATA2 | c.1099G>T (p.Asp367Tyr) c.1381G>T (p.Asp461Tyr) c.82G>T (p.Asp28Tyr) c.1057G>T (p.Asp353Tyr) n.216G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481863C= | CA1400715099 | GATA2 | c.1099G= (p.Asp367=) c.1381G= (p.Asp461=) c.82G= (p.Asp28=) c.1057G= (p.Asp353=) n.216G= | |
| 3 | g.128481863C>G | CA354413546 | GATA2 | c.1099G>C (p.Asp367His) c.1381G>C (p.Asp461His) c.82G>C (p.Asp28His) c.1057G>C (p.Asp353His) n.216G>C | |
| 3 | g.128481863C>T | CA354413544 | GATA2 | c.1099G>A (p.Asp367Asn) c.1381G>A (p.Asp461Asn) c.82G>A (p.Asp28Asn) c.1057G>A (p.Asp353Asn) n.216G>A | |
| 3 | g.128481866dup | CA2499216434 | GATA2 | c.1099dup (p.Asp367GlyfsTer17) c.1381dup (p.Asp461GlyfsTer17) c.82dup (p.Asp28GlyfsTer18) c.1057dup (p.Asp353GlyfsTer17) n.216dup | ClinVar dbSNP |
| 3 | g.128481866del | CA2499216433 | GATA2 | c.1099del (p.Asp367ThrfsTer20) c.1381del (p.Asp461ThrfsTer20) c.82del (p.Asp28ThrfsTer?) c.1057del (p.Asp353ThrfsTer20) n.216del | ClinVar dbSNP |
| 3 | g.128481864C>A | CA435525552 | GATA2 | c.1098G>T (p.Gly366=) c.1380G>T (p.Gly460=) c.81G>T (p.Gly27=) c.1056G>T (p.Gly352=) n.215G>T | |
| 3 | g.128481864C>G | CA435525553 | GATA2 | c.1098G>C (p.Gly366=) c.1380G>C (p.Gly460=) c.81G>C (p.Gly27=) c.1056G>C (p.Gly352=) n.215G>C | |
| 3 | g.128481864C>T | CA435525554 | GATA2 | c.1098G>A (p.Gly366=) c.1380G>A (p.Gly460=) c.81G>A (p.Gly27=) c.1056G>A (p.Gly352=) n.215G>A | gnomAD v4 |
| 3 | g.128481865C>A | CA354413547 | GATA2 | c.1097G>T (p.Gly366Val) c.1379G>T (p.Gly460Val) c.80G>T (p.Gly27Val) c.1055G>T (p.Gly352Val) n.214G>T | |
| 3 | g.128481865C>G | CA354413548 | GATA2 | c.1097G>C (p.Gly366Ala) c.1379G>C (p.Gly460Ala) c.80G>C (p.Gly27Ala) c.1055G>C (p.Gly352Ala) n.214G>C | |
| 3 | g.128481865C>T | CA354413549 | GATA2 | c.1097G>A (p.Gly366Glu) c.1379G>A (p.Gly460Glu) c.80G>A (p.Gly27Glu) c.1055G>A (p.Gly352Glu) n.214G>A | |
| 3 | g.128481866C>A | CA354413550 | GATA2 | c.1096G>T (p.Gly366Trp) c.1378G>T (p.Gly460Trp) c.79G>T (p.Gly27Trp) c.1054G>T (p.Gly352Trp) n.213G>T | |
| 3 | g.128481866C= | CA1400715102 | GATA2 | c.1096G= (p.Gly366=) c.1378G= (p.Gly460=) c.79G= (p.Gly27=) c.1054G= (p.Gly352=) n.213G= | |
| 3 | g.128481866C>G | CA354413551 | GATA2 | c.1096G>C (p.Gly366Arg) c.1378G>C (p.Gly460Arg) c.79G>C (p.Gly27Arg) c.1054G>C (p.Gly352Arg) n.213G>C | |
| 3 | g.128481866C>T | CA83376544 | GATA2 | c.1096G>A (p.Gly366Arg) c.1378G>A (p.Gly460Arg) c.79G>A (p.Gly27Arg) c.1054G>A (p.Gly352Arg) n.213G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481866_128481878delinsCGTTGGCGTTTCG | CA1400715104 | GATA2 | c.1084_1096delinsCGAAACGCCAACG (p.Arg362=) c.1366_1378delinsCGAAACGCCAACG (p.Arg456=) c.67_79delinsCGAAACGCCAACG (p.Arg23=) c.1042_1054delinsCGAAACGCCAACG (p.Arg348=) n.201_213delinsCGAAACGCCAACG | |
| 3 | g.128481867G>A | CA2599868 | GATA2 | c.1095C>T (p.Asn365=) c.1377C>T (p.Asn459=) c.78C>T (p.Asn26=) c.1053C>T (p.Asn351=) n.212C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481867G>C | CA354413553 | GATA2 | c.1095C>G (p.Asn365Lys) c.1377C>G (p.Asn459Lys) c.78C>G (p.Asn26Lys) c.1053C>G (p.Asn351Lys) n.212C>G | ClinVar gnomAD v4 |
| 3 | g.128481867G= | CA1400715119 | GATA2 | c.1095C= (p.Asn365=) c.1377C= (p.Asn459=) c.78C= (p.Asn26=) c.1053C= (p.Asn351=) n.212C= | |
| 3 | g.128481867G>T | CA354413552 | GATA2 | c.1095C>A (p.Asn365Lys) c.1377C>A (p.Asn459Lys) c.78C>A (p.Asn26Lys) c.1053C>A (p.Asn351Lys) n.212C>A | |
| 3 | g.128481868_128481879del | CA358689 | GATA2 | c.1084_1095del (p.Arg362_Asn365del) c.1366_1377del (p.Arg456_Asn459del) c.67_78del (p.Arg23_Asn26del) c.1042_1053del (p.Arg348_Asn351del) n.201_212del | ClinVar dbSNP |
| 3 | g.128481867_128481896del | CA1139654931 | GATA2 | c.1066_1095del (p.Thr356_Asn365del) c.1348_1377del (p.Thr450_Asn459del) c.49_78del (p.Thr17_Asn26del) c.1024_1053del (p.Thr342_Asn351del) n.183_212del | ClinVar dbSNP |
| 3 | g.128481868T>A | CA354413554 | GATA2 | c.1094A>T (p.Asn365Ile) c.1376A>T (p.Asn459Ile) c.77A>T (p.Asn26Ile) c.1052A>T (p.Asn351Ile) n.211A>T | |
| 3 | g.128481868T>C | CA2599869 | GATA2 | c.1094A>G (p.Asn365Ser) c.1376A>G (p.Asn459Ser) c.77A>G (p.Asn26Ser) c.1052A>G (p.Asn351Ser) n.211A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481868T>G | CA354413555 | GATA2 | c.1094A>C (p.Asn365Thr) c.1376A>C (p.Asn459Thr) c.77A>C (p.Asn26Thr) c.1052A>C (p.Asn351Thr) n.211A>C | |
| 3 | g.128481868T= | CA1400715127 | GATA2 | c.1094A= (p.Asn365=) c.1376A= (p.Asn459=) c.77A= (p.Asn26=) c.1052A= (p.Asn351=) n.211A= | |
| 3 | g.128481869T>A | CA354413558 | GATA2 | c.1093A>T (p.Asn365Tyr) c.1375A>T (p.Asn459Tyr) c.76A>T (p.Asn26Tyr) c.1051A>T (p.Asn351Tyr) n.210A>T | |
| 3 | g.128481869T>C | CA354413557 | GATA2 | c.1093A>G (p.Asn365Asp) c.1375A>G (p.Asn459Asp) c.76A>G (p.Asn26Asp) c.1051A>G (p.Asn351Asp) n.210A>G | |
| 3 | g.128481869T>G | CA354413556 | GATA2 | c.1093A>C (p.Asn365His) c.1375A>C (p.Asn459His) c.76A>C (p.Asn26His) c.1051A>C (p.Asn351His) n.210A>C | |
| 3 | g.128481869T= | CA1400715131 | GATA2 | c.1093A= (p.Asn365=) c.1375A= (p.Asn459=) c.76A= (p.Asn26=) c.1051A= (p.Asn351=) n.210A= | |
| 3 | g.128481870G>A | CA435525558 | GATA2 | c.1092C>T (p.Ala364=) c.1374C>T (p.Ala458=) c.75C>T (p.Ala25=) c.1050C>T (p.Ala350=) n.209C>T | |
| 3 | g.128481870G>C | CA435525559 | GATA2 | c.1092C>G (p.Ala364=) c.1374C>G (p.Ala458=) c.75C>G (p.Ala25=) c.1050C>G (p.Ala350=) n.209C>G | |
| 3 | g.128481870G>T | CA435525561 | GATA2 | c.1092C>A (p.Ala364=) c.1374C>A (p.Ala458=) c.75C>A (p.Ala25=) c.1050C>A (p.Ala350=) n.209C>A | |
| 3 | g.128481872_128481922dup | CA1400715133 | GATA2 | c.1042_1092dup (p.Ala364_Asn365insCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAla) c.1324_1374dup (p.Ala458_Asn459insCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAla) c.25_75dup (p.Ala25_Asn26insCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAla) c.1018-18_1050dup n.159_209dup | ClinVar dbSNP |
| 3 | g.128481871G>A | CA354413559 | GATA2 | c.1091C>T (p.Ala364Val) c.1373C>T (p.Ala458Val) c.74C>T (p.Ala25Val) c.1049C>T (p.Ala350Val) n.208C>T | dbSNP |
| 3 | g.128481871G>C | CA2599870 | GATA2 | c.1091C>G (p.Ala364Gly) c.1373C>G (p.Ala458Gly) c.74C>G (p.Ala25Gly) c.1049C>G (p.Ala350Gly) n.208C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481871G= | CA1400715136 | GATA2 | c.1091C= (p.Ala364=) c.1373C= (p.Ala458=) c.74C= (p.Ala25=) c.1049C= (p.Ala350=) n.208C= | |
| 3 | g.128481871G>T | CA354413560 | GATA2 | c.1091C>A (p.Ala364Asp) c.1373C>A (p.Ala458Asp) c.74C>A (p.Ala25Asp) c.1049C>A (p.Ala350Asp) n.208C>A | gnomAD v4 |
| 3 | g.128481872C>A | CA354413561 | GATA2 | c.1090G>T (p.Ala364Ser) c.1372G>T (p.Ala458Ser) c.73G>T (p.Ala25Ser) c.1048G>T (p.Ala350Ser) n.207G>T | |
| 3 | g.128481872C= | CA1400715141 | GATA2 | c.1090G= (p.Ala364=) c.1372G= (p.Ala458=) c.73G= (p.Ala25=) c.1048G= (p.Ala350=) n.207G= | |
| 3 | g.128481872C>G | CA354413562 | GATA2 | c.1090G>C (p.Ala364Pro) c.1372G>C (p.Ala458Pro) c.73G>C (p.Ala25Pro) c.1048G>C (p.Ala350Pro) n.207G>C | ClinVar gnomAD v4 |
| 3 | g.128481872C>T | CA2599871 | GATA2 | c.1090G>A (p.Ala364Thr) c.1372G>A (p.Ala458Thr) c.73G>A (p.Ala25Thr) c.1048G>A (p.Ala350Thr) n.207G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481873G>A | CA2599872 | GATA2 | c.1089C>T (p.Asn363=) c.1371C>T (p.Asn457=) c.72C>T (p.Asn24=) c.1047C>T (p.Asn349=) n.206C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481873G>C | CA354413563 | GATA2 | c.1089C>G (p.Asn363Lys) c.1371C>G (p.Asn457Lys) c.72C>G (p.Asn24Lys) c.1047C>G (p.Asn349Lys) n.206C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481873G= | CA1400715147 | GATA2 | c.1089C= (p.Asn363=) c.1371C= (p.Asn457=) c.72C= (p.Asn24=) c.1047C= (p.Asn349=) n.206C= | |
| 3 | g.128481873G>T | CA354413564 | GATA2 | c.1089C>A (p.Asn363Lys) c.1371C>A (p.Asn457Lys) c.72C>A (p.Asn24Lys) c.1047C>A (p.Asn349Lys) n.206C>A | gnomAD v4 |
| 3 | g.128481874T>A | CA354413565 | GATA2 | c.1088A>T (p.Asn363Ile) c.1370A>T (p.Asn457Ile) c.71A>T (p.Asn24Ile) c.1046A>T (p.Asn349Ile) n.205A>T | |
| 3 | g.128481874T>C | CA354413566 | GATA2 | c.1088A>G (p.Asn363Ser) c.1370A>G (p.Asn457Ser) c.71A>G (p.Asn24Ser) c.1046A>G (p.Asn349Ser) n.205A>G | |
| 3 | g.128481874T>G | CA354413567 | GATA2 | c.1088A>C (p.Asn363Thr) c.1370A>C (p.Asn457Thr) c.71A>C (p.Asn24Thr) c.1046A>C (p.Asn349Thr) n.205A>C | |
| 3 | g.128481875T>A | CA354413568 | GATA2 | c.1087A>T (p.Asn363Tyr) c.1369A>T (p.Asn457Tyr) c.70A>T (p.Asn24Tyr) c.1045A>T (p.Asn349Tyr) n.204A>T | |
| 3 | g.128481875T>C | CA354413569 | GATA2 | c.1087A>G (p.Asn363Asp) c.1369A>G (p.Asn457Asp) c.70A>G (p.Asn24Asp) c.1045A>G (p.Asn349Asp) n.204A>G | |
| 3 | g.128481875T>G | CA354413570 | GATA2 | c.1087A>C (p.Asn363His) c.1369A>C (p.Asn457His) c.70A>C (p.Asn24His) c.1045A>C (p.Asn349His) n.204A>C | |
| 3 | g.128481875_128481876insCCT | CA645529126 | GATA2 | c.1087_1088insGGA (p.Arg362_Asn363insArg) c.1369_1370insGGA (p.Arg456_Asn457insArg) c.70_71insGGA (p.Arg23_Asn24insArg) c.1045_1046insGGA (p.Arg348_Asn349insArg) n.204_205insGGA | COSMIC |
| 3 | g.128481878_128481934dup | CA2580068710 | GATA2 | c.1031_1087dup (p.Arg362_Asn363insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg) c.1313_1369dup (p.Arg456_Asn457insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg) c.14_70dup (p.Arg23_Asn24insArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArg) c.1018-29_1045dup n.148_204dup | ClinVar |
| 3 | g.128481876T>A | CA435525567 | GATA2 | c.1086A>T (p.Arg362=) c.1368A>T (p.Arg456=) c.69A>T (p.Arg23=) c.1044A>T (p.Arg348=) n.203A>T | ClinVar |
| 3 | g.128481876T>C | CA435525568 | GATA2 | c.1086A>G (p.Arg362=) c.1368A>G (p.Arg456=) c.69A>G (p.Arg23=) c.1044A>G (p.Arg348=) n.203A>G | |
| 3 | g.128481876T>G | CA435525569 | GATA2 | c.1086A>C (p.Arg362=) c.1368A>C (p.Arg456=) c.69A>C (p.Arg23=) c.1044A>C (p.Arg348=) n.203A>C | |
| 3 | g.128481876T= | CA1400715150 | GATA2 | c.1086A= (p.Arg362=) c.1368A= (p.Arg456=) c.69A= (p.Arg23=) c.1044A= (p.Arg348=) n.203A= | |
| 3 | g.128481877del | CA435525570 | GATA2 | c.1085del (p.Arg362GlnfsTer25) c.1367del (p.Arg456GlnfsTer25) c.68del (p.Arg23GlnfsTer?) c.1043del (p.Arg348GlnfsTer25) n.202del | COSMIC |
| 3 | g.128481877C>A | CA354413572 | GATA2 | c.1085G>T (p.Arg362Leu) c.1367G>T (p.Arg456Leu) c.68G>T (p.Arg23Leu) c.1043G>T (p.Arg348Leu) n.202G>T | |
| 3 | g.128481877C= | CA1400715157 | GATA2 | c.1085G= (p.Arg362=) c.1367G= (p.Arg456=) c.68G= (p.Arg23=) c.1043G= (p.Arg348=) n.202G= | |
| 3 | g.128481877C>G | CA354413571 | GATA2 | c.1085G>C (p.Arg362Pro) c.1367G>C (p.Arg456Pro) c.68G>C (p.Arg23Pro) c.1043G>C (p.Arg348Pro) n.202G>C | ClinVar dbSNP COSMIC |
| 3 | g.128481877C>T | CA83376555 | GATA2 | c.1085G>A (p.Arg362Gln) c.1367G>A (p.Arg456Gln) c.68G>A (p.Arg23Gln) c.1043G>A (p.Arg348Gln) n.202G>A | ClinVar dbSNP COSMIC |
| 3 | g.128481877delinsGGGT | CA891841818 | GATA2 | c.1085delinsACCC (p.Arg362delinsHisPro) c.1367delinsACCC (p.Arg456delinsHisPro) c.68delinsACCC (p.Arg23delinsHisPro) c.1043delinsACCC (p.Arg348delinsHisPro) n.202delinsACCC | |
| 3 | g.128481879_128481881dup | CA916081436 | GATA2 | c.1083_1085dup (p.Arg362_Asn363insArg) c.1365_1367dup (p.Arg456_Asn457insArg) c.66_68dup (p.Arg23_Asn24insArg) c.1041_1043dup (p.Arg348_Asn349insArg) n.200_202dup | ClinVar dbSNP |
| 3 | g.128481878G>A | CA354413573 | GATA2 | c.1084C>T (p.Arg362Ter) c.1366C>T (p.Arg456Ter) c.67C>T (p.Arg23Ter) c.1042C>T (p.Arg348Ter) n.201C>T | ClinVar dbSNP |
| 3 | g.128481878G>C | CA354413574 | GATA2 | c.1084C>G (p.Arg362Gly) c.1366C>G (p.Arg456Gly) c.67C>G (p.Arg23Gly) c.1042C>G (p.Arg348Gly) n.201C>G | dbSNP COSMIC |
| 3 | g.128481878G= | CA1400715162 | GATA2 | c.1084C= (p.Arg362=) c.1366C= (p.Arg456=) c.67C= (p.Arg23=) c.1042C= (p.Arg348=) n.201C= | |
| 3 | g.128481878G>T | CA435525571 | GATA2 | c.1084C>A (p.Arg362=) c.1366C>A (p.Arg456=) c.67C>A (p.Arg23=) c.1042C>A (p.Arg348=) n.201C>A | |
| 3 | g.128481879G>A | CA435525573 | GATA2 | c.1083C>T (p.Arg361=) c.1365C>T (p.Arg455=) c.66C>T (p.Arg22=) c.1041C>T (p.Arg347=) n.200C>T | ClinVar |
| 3 | g.128481879G>C | CA435525574 | GATA2 | c.1083C>G (p.Arg361=) c.1365C>G (p.Arg455=) c.66C>G (p.Arg22=) c.1041C>G (p.Arg347=) n.200C>G | |
| 3 | g.128481879G>T | CA435525575 | GATA2 | c.1083C>A (p.Arg361=) c.1365C>A (p.Arg455=) c.66C>A (p.Arg22=) c.1041C>A (p.Arg347=) n.200C>A | |
| 3 | g.128481881_128481882dup | CA2740090994 | GATA2 | c.1082_1083dup (p.Arg362AlafsTer26) c.1364_1365dup (p.Arg456AlafsTer26) c.65_66dup (p.Arg23AlafsTer?) c.1040_1041dup (p.Arg348AlafsTer26) n.199_200dup | ClinVar |
| 3 | g.128481880C>A | CA128593 | GATA2 | c.1082G>T (p.Arg361Leu) c.1364G>T (p.Arg455Leu) c.65G>T (p.Arg22Leu) c.1040G>T (p.Arg347Leu) n.199G>T | ClinVar dbSNP |
| 3 | g.128481880C= | CA1400715167 | GATA2 | c.1082G= (p.Arg361=) c.1364G= (p.Arg455=) c.65G= (p.Arg22=) c.1040G= (p.Arg347=) n.199G= | |
| 3 | g.128481880C>G | CA354413575 | GATA2 | c.1082G>C (p.Arg361Pro) c.1364G>C (p.Arg455Pro) c.65G>C (p.Arg22Pro) c.1040G>C (p.Arg347Pro) n.199G>C | |
| 3 | g.128481880C>T | CA354413576 | GATA2 | c.1082G>A (p.Arg361His) c.1364G>A (p.Arg455His) c.65G>A (p.Arg22His) c.1040G>A (p.Arg347His) n.199G>A | ClinVar dbSNP COSMIC |
| 3 | g.128481880_128481885dup | CA2586965867 | GATA2 | c.1077_1082dup (p.Arg361_Arg362insTrpArg) c.1359_1364dup (p.Arg455_Arg456insTrpArg) c.60_65dup (p.Arg22_Arg23insTrpArg) c.1035_1040dup (p.Arg347_Arg348insTrpArg) n.194_199dup | |
| 3 | g.128481881G>A | CA354413577 | GATA2 | c.1081C>T (p.Arg361Cys) c.1363C>T (p.Arg455Cys) c.64C>T (p.Arg22Cys) c.1039C>T (p.Arg347Cys) n.198C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481881G>C | CA354413578 | GATA2 | c.1081C>G (p.Arg361Gly) c.1363C>G (p.Arg455Gly) c.64C>G (p.Arg22Gly) c.1039C>G (p.Arg347Gly) n.198C>G | ClinVar dbSNP |
| 3 | g.128481881G= | CA1400715177 | GATA2 | c.1081C= (p.Arg361=) c.1363C= (p.Arg455=) c.64C= (p.Arg22=) c.1039C= (p.Arg347=) n.198C= | |
| 3 | g.128481881G>T | CA354413579 | GATA2 | c.1081C>A (p.Arg361Ser) c.1363C>A (p.Arg455Ser) c.64C>A (p.Arg22Ser) c.1039C>A (p.Arg347Ser) n.198C>A | |
| 3 | g.128481882C>A | CA354413580 | GATA2 | c.1080G>T (p.Trp360Cys) c.1362G>T (p.Trp454Cys) c.63G>T (p.Trp21Cys) c.1038G>T (p.Trp346Cys) n.197G>T | |
| 3 | g.128481882C>G | CA354413581 | GATA2 | c.1080G>C (p.Trp360Cys) c.1362G>C (p.Trp454Cys) c.63G>C (p.Trp21Cys) c.1038G>C (p.Trp346Cys) n.197G>C | |
| 3 | g.128481882C>T | CA354413582 | GATA2 | c.1080G>A (p.Trp360Ter) c.1362G>A (p.Trp454Ter) c.63G>A (p.Trp21Ter) c.1038G>A (p.Trp346Ter) n.197G>A | ClinVar |
| 3 | g.128481883_128481900dup | CA2667540512 | GATA2 | c.1063_1080dup (p.Trp360_Arg361insThrThrThrThrLeuTrp) c.1345_1362dup (p.Trp454_Arg455insThrThrThrThrLeuTrp) c.46_63dup (p.Trp21_Arg22insThrThrThrThrLeuTrp) c.1021_1038dup (p.Trp346_Arg347insThrThrThrThrLeuTrp) n.180_197dup | gnomAD v4 |
| 3 | g.128481883C>A | CA354413585 | GATA2 | c.1079G>T (p.Trp360Leu) c.1361G>T (p.Trp454Leu) c.62G>T (p.Trp21Leu) c.1037G>T (p.Trp346Leu) n.196G>T | ClinVar dbSNP COSMIC |
| 3 | g.128481883C>G | CA354413584 | GATA2 | c.1079G>C (p.Trp360Ser) c.1361G>C (p.Trp454Ser) c.62G>C (p.Trp21Ser) c.1037G>C (p.Trp346Ser) n.196G>C | |
| 3 | g.128481883C>T | CA354413583 | GATA2 | c.1079G>A (p.Trp360Ter) c.1361G>A (p.Trp454Ter) c.62G>A (p.Trp21Ter) c.1037G>A (p.Trp346Ter) n.196G>A | |
| 3 | g.128481884A>C | CA354413586 | GATA2 | c.1078T>G (p.Trp360Gly) c.1360T>G (p.Trp454Gly) c.61T>G (p.Trp21Gly) c.1036T>G (p.Trp346Gly) n.195T>G | |
| 3 | g.128481884A>G | CA354413587 | GATA2 | c.1078T>C (p.Trp360Arg) c.1360T>C (p.Trp454Arg) c.61T>C (p.Trp21Arg) c.1036T>C (p.Trp346Arg) n.195T>C | ClinVar |
| 3 | g.128481884A>T | CA354413588 | GATA2 | c.1078T>A (p.Trp360Arg) c.1360T>A (p.Trp454Arg) c.61T>A (p.Trp21Arg) c.1036T>A (p.Trp346Arg) n.195T>A | ClinVar dbSNP |
| 3 | g.128481885T>A | CA354413589 | GATA2 | c.1077A>T (p.Leu359Phe) c.1359A>T (p.Leu453Phe) c.60A>T (p.Leu20Phe) c.1035A>T (p.Leu345Phe) n.194A>T | ClinVar dbSNP |
| 3 | g.128481885T>C | CA435525579 | GATA2 | c.1077A>G (p.Leu359=) c.1359A>G (p.Leu453=) c.60A>G (p.Leu20=) c.1035A>G (p.Leu345=) n.194A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481885T>G | CA354413590 | GATA2 | c.1077A>C (p.Leu359Phe) c.1359A>C (p.Leu453Phe) c.60A>C (p.Leu20Phe) c.1035A>C (p.Leu345Phe) n.194A>C | |
| 3 | g.128481885T= | CA1400715183 | GATA2 | c.1077A= (p.Leu359=) c.1359A= (p.Leu453=) c.60A= (p.Leu20=) c.1035A= (p.Leu345=) n.194A= | |
| 3 | g.128481886A>C | CA354413591 | GATA2 | c.1076T>G (p.Leu359Ter) c.1358T>G (p.Leu453Ter) c.59T>G (p.Leu20Ter) c.1034T>G (p.Leu345Ter) n.193T>G | |
| 3 | g.128481886A>G | CA354413592 | GATA2 | c.1076T>C (p.Leu359Ser) c.1358T>C (p.Leu453Ser) c.59T>C (p.Leu20Ser) c.1034T>C (p.Leu345Ser) n.193T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481886A>T | CA354413593 | GATA2 | c.1076T>A (p.Leu359Ter) c.1358T>A (p.Leu453Ter) c.59T>A (p.Leu20Ter) c.1034T>A (p.Leu345Ter) n.193T>A | |
| 3 | g.128481887A= | CA1400715190 | GATA2 | c.1075T= (p.Leu359=) c.1357T= (p.Leu453=) c.58T= (p.Leu20=) c.1033T= (p.Leu345=) n.192T= | |
| 3 | g.128481887A>C | CA16611354 | GATA2 | c.1075T>G (p.Leu359Val) c.1357T>G (p.Leu453Val) c.58T>G (p.Leu20Val) c.1033T>G (p.Leu345Val) n.192T>G | ClinVar dbSNP COSMIC |
| 3 | g.128481887A>G | CA435525580 | GATA2 | c.1075T>C (p.Leu359=) c.1357T>C (p.Leu453=) c.58T>C (p.Leu20=) c.1033T>C (p.Leu345=) n.192T>C | |
| 3 | g.128481887A>T | CA354413594 | GATA2 | c.1075T>A (p.Leu359Ile) c.1357T>A (p.Leu453Ile) c.58T>A (p.Leu20Ile) c.1033T>A (p.Leu345Ile) n.192T>A | |
| 3 | g.128481887_128481889delinsCGT | CA1139532297 | GATA2 | c.1073_1075delinsACG (p.Thr358_Leu359delinsAsnVal) c.1355_1357delinsACG (p.Thr452_Leu453delinsAsnVal) c.56_58delinsACG (p.Thr19_Leu20delinsAsnVal) c.1031_1033delinsACG (p.Thr344_Leu345delinsAsnVal) n.190_192delinsACG | |
| 3 | g.128481888G>A | CA435525581 | GATA2 | c.1074C>T (p.Thr358=) c.1356C>T (p.Thr452=) c.57C>T (p.Thr19=) c.1032C>T (p.Thr344=) n.191C>T | ClinVar dbSNP |
| 3 | g.128481888G>C | CA435525582 | GATA2 | c.1074C>G (p.Thr358=) c.1356C>G (p.Thr452=) c.57C>G (p.Thr19=) c.1032C>G (p.Thr344=) n.191C>G | |
| 3 | g.128481888G= | CA1400715194 | GATA2 | c.1074C= (p.Thr358=) c.1356C= (p.Thr452=) c.57C= (p.Thr19=) c.1032C= (p.Thr344=) n.191C= | |
| 3 | g.128481888G>T | CA435525583 | GATA2 | c.1074C>A (p.Thr358=) c.1356C>A (p.Thr452=) c.57C>A (p.Thr19=) c.1032C>A (p.Thr344=) n.191C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481894_128481896del | CA2580616528 | GATA2 | c.1072_1074del (p.Thr358del) c.1354_1356del (p.Thr452del) c.55_57del (p.Thr19del) c.1030_1032del (p.Thr344del) n.189_191del | ClinVar dbSNP |
| 3 | g.128481889G>A | CA83376558 | GATA2 | c.1073C>T (p.Thr358Ile) c.1355C>T (p.Thr452Ile) c.56C>T (p.Thr19Ile) c.1031C>T (p.Thr344Ile) n.190C>T | dbSNP |
| 3 | g.128481889G>C | CA354413595 | GATA2 | c.1073C>G (p.Thr358Ser) c.1355C>G (p.Thr452Ser) c.56C>G (p.Thr19Ser) c.1031C>G (p.Thr344Ser) n.190C>G | |
| 3 | g.128481889G= | CA1400715197 | GATA2 | c.1073C= (p.Thr358=) c.1355C= (p.Thr452=) c.56C= (p.Thr19=) c.1031C= (p.Thr344=) n.190C= | |
| 3 | g.128481889G>T | CA354413596 | GATA2 | c.1073C>A (p.Thr358Asn) c.1355C>A (p.Thr452Asn) c.56C>A (p.Thr19Asn) c.1031C>A (p.Thr344Asn) n.190C>A | ClinVar dbSNP COSMIC |
| 3 | g.128481890T>A | CA354413599 | GATA2 | c.1072A>T (p.Thr358Ser) c.1354A>T (p.Thr452Ser) c.55A>T (p.Thr19Ser) c.1030A>T (p.Thr344Ser) n.189A>T | |
| 3 | g.128481890T>C | CA354413597 | GATA2 | c.1072A>G (p.Thr358Ala) c.1354A>G (p.Thr452Ala) c.55A>G (p.Thr19Ala) c.1030A>G (p.Thr344Ala) n.189A>G | |
| 3 | g.128481890T>G | CA354413598 | GATA2 | c.1072A>C (p.Thr358Pro) c.1354A>C (p.Thr452Pro) c.55A>C (p.Thr19Pro) c.1030A>C (p.Thr344Pro) n.189A>C | |
| 3 | g.128481891G>A | CA435525584 | GATA2 | c.1071C>T (p.Thr357=) c.1353C>T (p.Thr451=) c.54C>T (p.Thr18=) c.1029C>T (p.Thr343=) n.188C>T | |
| 3 | g.128481891G>C | CA435525585 | GATA2 | c.1071C>G (p.Thr357=) c.1353C>G (p.Thr451=) c.54C>G (p.Thr18=) c.1029C>G (p.Thr343=) n.188C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481891G= | CA1400715200 | GATA2 | c.1071C= (p.Thr357=) c.1353C= (p.Thr451=) c.54C= (p.Thr18=) c.1029C= (p.Thr343=) n.188C= | |
| 3 | g.128481891G>T | CA435525586 | GATA2 | c.1071C>A (p.Thr357=) c.1353C>A (p.Thr451=) c.54C>A (p.Thr18=) c.1029C>A (p.Thr343=) n.188C>A | ClinVar dbSNP |
| 3 | g.128481892G>A | CA354413600 | GATA2 | c.1070C>T (p.Thr357Ile) c.1352C>T (p.Thr451Ile) c.53C>T (p.Thr18Ile) c.1028C>T (p.Thr343Ile) n.187C>T | ClinVar dbSNP |
| 3 | g.128481892G>C | CA354413601 | GATA2 | c.1070C>G (p.Thr357Ser) c.1352C>G (p.Thr451Ser) c.53C>G (p.Thr18Ser) c.1028C>G (p.Thr343Ser) n.187C>G | |
| 3 | g.128481892G>T | CA354413602 | GATA2 | c.1070C>A (p.Thr357Asn) c.1352C>A (p.Thr451Asn) c.53C>A (p.Thr18Asn) c.1028C>A (p.Thr343Asn) n.187C>A | |
| 3 | g.128481893T>A | CA354413603 | GATA2 | c.1069A>T (p.Thr357Ser) c.1351A>T (p.Thr451Ser) c.52A>T (p.Thr18Ser) c.1027A>T (p.Thr343Ser) n.186A>T | COSMIC |
| 3 | g.128481893T>C | CA354413604 | GATA2 | c.1069A>G (p.Thr357Ala) c.1351A>G (p.Thr451Ala) c.52A>G (p.Thr18Ala) c.1027A>G (p.Thr343Ala) n.186A>G | ClinVar dbSNP |
| 3 | g.128481893T>G | CA354413605 | GATA2 | c.1069A>C (p.Thr357Pro) c.1351A>C (p.Thr451Pro) c.52A>C (p.Thr18Pro) c.1027A>C (p.Thr343Pro) n.186A>C | |
| 3 | g.128481894G>A | CA435525589 | GATA2 | c.1068C>T (p.Thr356=) c.1350C>T (p.Thr450=) c.51C>T (p.Thr17=) c.1026C>T (p.Thr342=) n.185C>T | dbSNP gnomAD v2 |
| 3 | g.128481894G>C | CA435525590 | GATA2 | c.1068C>G (p.Thr356=) c.1350C>G (p.Thr450=) c.51C>G (p.Thr17=) c.1026C>G (p.Thr342=) n.185C>G | |
| 3 | g.128481894G= | CA1400715202 | GATA2 | c.1068C= (p.Thr356=) c.1350C= (p.Thr450=) c.51C= (p.Thr17=) c.1026C= (p.Thr342=) n.185C= | |
| 3 | g.128481894G>T | CA435525591 | GATA2 | c.1068C>A (p.Thr356=) c.1350C>A (p.Thr450=) c.51C>A (p.Thr17=) c.1026C>A (p.Thr342=) n.185C>A | COSMIC |
| 3 | g.128481894_128481897delinsGGTT | CA1400715204 | GATA2 | c.1065_1068delinsAACC (p.Thr355=) c.1347_1350delinsAACC (p.Thr449=) c.48_51delinsAACC (p.Thr16=) c.1023_1026delinsAACC (p.Thr341=) n.182_185delinsAACC | |
| 3 | g.128481895G>A | CA354413606 | GATA2 | c.1067C>T (p.Thr356Ile) c.1349C>T (p.Thr450Ile) c.50C>T (p.Thr17Ile) c.1025C>T (p.Thr342Ile) n.184C>T | ClinVar dbSNP |
| 3 | g.128481895G>C | CA354413607 | GATA2 | c.1067C>G (p.Thr356Ser) c.1349C>G (p.Thr450Ser) c.50C>G (p.Thr17Ser) c.1025C>G (p.Thr342Ser) n.184C>G | |
| 3 | g.128481895G= | CA1400715208 | GATA2 | c.1067C= (p.Thr356=) c.1349C= (p.Thr450=) c.50C= (p.Thr17=) c.1025C= (p.Thr342=) n.184C= | |
| 3 | g.128481895G>T | CA354413608 | GATA2 | c.1067C>A (p.Thr356Asn) c.1349C>A (p.Thr450Asn) c.50C>A (p.Thr17Asn) c.1025C>A (p.Thr342Asn) n.184C>A | dbSNP |
| 3 | g.128481897_128481899del | CA658820609 | GATA2 | c.1065_1067del (p.Thr356del) c.1347_1349del (p.Thr450del) c.48_50del (p.Thr17del) c.1023_1025del (p.Thr342del) n.182_184del | ClinVar dbSNP |
| 3 | g.128481896T>A | CA354413609 | GATA2 | c.1066A>T (p.Thr356Ser) c.1348A>T (p.Thr450Ser) c.49A>T (p.Thr17Ser) c.1024A>T (p.Thr342Ser) n.183A>T | |
| 3 | g.128481896T>C | CA354413610 | GATA2 | c.1066A>G (p.Thr356Ala) c.1348A>G (p.Thr450Ala) c.49A>G (p.Thr17Ala) c.1024A>G (p.Thr342Ala) n.183A>G | ClinVar dbSNP |
| 3 | g.128481896T>G | CA354413611 | GATA2 | c.1066A>C (p.Thr356Pro) c.1348A>C (p.Thr450Pro) c.49A>C (p.Thr17Pro) c.1024A>C (p.Thr342Pro) n.183A>C | |
| 3 | g.128481897T>A | CA435525594 | GATA2 | c.1065A>T (p.Thr355=) c.1347A>T (p.Thr449=) c.48A>T (p.Thr16=) c.1023A>T (p.Thr341=) n.182A>T | |
| 3 | g.128481897T>C | CA435525595 | GATA2 | c.1065A>G (p.Thr355=) c.1347A>G (p.Thr449=) c.48A>G (p.Thr16=) c.1023A>G (p.Thr341=) n.182A>G | gnomAD v4 |
| 3 | g.128481897T>G | CA435525596 | GATA2 | c.1065A>C (p.Thr355=) c.1347A>C (p.Thr449=) c.48A>C (p.Thr16=) c.1023A>C (p.Thr341=) n.182A>C | |
| 3 | g.128481898G>A | CA354413613 | GATA2 | c.1064C>T (p.Thr355Ile) c.1346C>T (p.Thr449Ile) c.47C>T (p.Thr16Ile) c.1022C>T (p.Thr341Ile) n.181C>T | |
| 3 | g.128481898G>C | CA354413612 | GATA2 | c.1064C>G (p.Thr355Arg) c.1346C>G (p.Thr449Arg) c.47C>G (p.Thr16Arg) c.1022C>G (p.Thr341Arg) n.181C>G | |
| 3 | g.128481898G= | CA1400715212 | GATA2 | c.1064C= (p.Thr355=) c.1346C= (p.Thr449=) c.47C= (p.Thr16=) c.1022C= (p.Thr341=) n.181C= | |
| 3 | g.128481898G>T | CA16611238 | GATA2 | c.1064C>A (p.Thr355Lys) c.1346C>A (p.Thr449Lys) c.47C>A (p.Thr16Lys) c.1022C>A (p.Thr341Lys) n.181C>A | ClinVar dbSNP |
| 3 | g.128481901_128481903dup | CA645529127 | GATA2 | c.1062_1064dup (p.Thr355_Thr356insThr) c.1344_1346dup (p.Thr449_Thr450insThr) c.45_47dup (p.Thr16_Thr17insThr) c.1020_1022dup n.179_181dup | COSMIC |
| 3 | g.128481901_128481903del | CA2586965874 | GATA2 | c.1062_1064del (p.Thr355del) c.1344_1346del (p.Thr449del) c.45_47del (p.Thr16del) c.1020_1022del n.179_181del | |
| 3 | g.128481899T>A | CA354413614 | GATA2 | c.1063A>T (p.Thr355Ser) c.1345A>T (p.Thr449Ser) c.46A>T (p.Thr16Ser) c.1021A>T (p.Thr341Ser) n.180A>T | |
| 3 | g.128481899T>C | CA354413616 | GATA2 | c.1063A>G (p.Thr355Ala) c.1345A>G (p.Thr449Ala) c.46A>G (p.Thr16Ala) c.1021A>G (p.Thr341Ala) n.180A>G | dbSNP gnomAD v4 COSMIC |
| 3 | g.128481899T>G | CA354413615 | GATA2 | c.1063A>C (p.Thr355Pro) c.1345A>C (p.Thr449Pro) c.46A>C (p.Thr16Pro) c.1021A>C (p.Thr341Pro) n.180A>C | |
| 3 | g.128481899T= | CA1400715217 | GATA2 | c.1063A= (p.Thr355=) c.1345A= (p.Thr449=) c.46A= (p.Thr16=) c.1021A= (p.Thr341=) n.180A= | |
| 3 | g.128481900C>A | CA435525598 | GATA2 | c.1062G>T (p.Thr354=) c.1344G>T (p.Thr448=) c.45G>T (p.Thr15=) c.1020G>T (p.Thr340=) n.179G>T | ClinVar dbSNP |
| 3 | g.128481900C= | CA1400715222 | GATA2 | c.1062G= (p.Thr354=) c.1344G= (p.Thr448=) c.45G= (p.Thr15=) c.1020G= (p.Thr340=) n.179G= | |
| 3 | g.128481900C>G | CA435525599 | GATA2 | c.1062G>C (p.Thr354=) c.1344G>C (p.Thr448=) c.45G>C (p.Thr15=) c.1020G>C (p.Thr340=) n.179G>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481900C>T | CA2599873 | GATA2 | c.1062G>A (p.Thr354=) c.1344G>A (p.Thr448=) c.45G>A (p.Thr15=) c.1020G>A (p.Thr340=) n.179G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481901G>A | CA128580 | GATA2 | c.1061C>T (p.Thr354Met) c.1343C>T (p.Thr448Met) c.44C>T (p.Thr15Met) c.1019C>T (p.Thr340Met) n.178C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128481901G>C | CA354413617 | GATA2 | c.1061C>G (p.Thr354Arg) c.1343C>G (p.Thr448Arg) c.44C>G (p.Thr15Arg) c.1019C>G (p.Thr340Arg) n.178C>G | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128481901G= | CA1400715225 | GATA2 | c.1061C= (p.Thr354=) c.1343C= (p.Thr448=) c.44C= (p.Thr15=) c.1019C= (p.Thr340=) n.178C= | |
| 3 | g.128481901G>T | CA354413618 | GATA2 | c.1061C>A (p.Thr354Lys) c.1343C>A (p.Thr448Lys) c.44C>A (p.Thr15Lys) c.1019C>A (p.Thr340Lys) n.178C>A | COSMIC |
| 3 | g.128481901_128481902insATTTG | CA2695202470 | GATA2 | c.1061_1062insAAATC (p.Thr355AsnfsTer?) c.1343_1344insAAATC (p.Thr449AsnfsTer?) c.44_45insAAATC (p.Thr16AsnfsTer?) c.1019_1020insAAATC (p.Thr341AsnfsTer?) n.178_179insAAATC | |
| 3 | g.128481902T>A | CA354413619 | GATA2 | c.1060A>T (p.Thr354Ser) c.1342A>T (p.Thr448Ser) c.43A>T (p.Thr15Ser) c.1018A>T (p.Thr340Ser) n.177A>T | |
| 3 | g.128481902T>C | CA354413621 | GATA2 | c.1060A>G (p.Thr354Ala) c.1342A>G (p.Thr448Ala) c.43A>G (p.Thr15Ala) c.1018A>G (p.Thr340Ala) n.177A>G | |
| 3 | g.128481902T>G | CA354413620 | GATA2 | c.1060A>C (p.Thr354Pro) c.1342A>C (p.Thr448Pro) c.43A>C (p.Thr15Pro) c.1018A>C (p.Thr340Pro) n.177A>C | ClinVar dbSNP |
| 3 | g.128481905_128481932del | CA2586965875 | GATA2 | c.1033_1060del (p.Ala345ArgfsTer?) c.1315_1342del (p.Ala439ArgfsTer?) c.16_43del (p.Ala6ArgfsTer?) c.1018-27_1018del n.150_177del | |
| 3 | g.128481903C>A | CA354413622 | GATA2 | c.1059G>T (p.Gln353His) c.1341G>T (p.Gln447His) c.42G>T (p.Gln14His) c.1018-1G>T (n.1018-1G>T) n.176G>T | |
| 3 | g.128481903C>G | CA354413623 | GATA2 | c.1059G>C (p.Gln353His) c.1341G>C (p.Gln447His) c.42G>C (p.Gln14His) c.1018-1G>C (n.1018-1G>C) n.176G>C | |
| 3 | g.128481903C>T | CA354413624 | GATA2 | c.1059G>A (p.Gln353=) c.1341G>A (p.Gln447=) c.42G>A (p.Gln14=) c.1018-1G>A (n.1018-1G>A) n.176G>A | |
| 3 | g.128481904T>A | CA354413625 | GATA2 | c.1058A>T (p.Gln353Leu) c.1340A>T (p.Gln447Leu) c.41A>T (p.Gln14Leu) c.1018-2A>T (n.1018-2A>T) n.175A>T | |
| 3 | g.128481904T>C | CA354413626 | GATA2 | c.1058A>G (p.Gln353Arg) c.1340A>G (p.Gln447Arg) c.41A>G (p.Gln14Arg) c.1018-2A>G (n.1018-2A>G) n.175A>G | |
| 3 | g.128481904T>G | CA354413627 | GATA2 | c.1058A>C (p.Gln353Pro) c.1340A>C (p.Gln447Pro) c.41A>C (p.Gln14Pro) c.1018-2A>C (n.1018-2A>C) n.175A>C | |
| 3 | g.128481905G>A | CA354413628 | GATA2 | c.1057C>T (p.Gln353Ter) c.1339C>T (p.Gln447Ter) c.40C>T (p.Gln14Ter) c.1018-3C>T (n.1018-3C>T) n.174C>T | |
| 3 | g.128481905G>C | CA354413629 | GATA2 | c.1057C>G (p.Gln353Glu) c.1339C>G (p.Gln447Glu) c.40C>G (p.Gln14Glu) c.1018-3C>G (n.1018-3C>G) n.174C>G | |
| 3 | g.128481905G= | CA1400715230 | GATA2 | c.1057C= (p.Gln353=) c.1339C= (p.Gln447=) c.40C= (p.Gln14=) c.1018-3C= (n.1018-3C=) n.174C= | |
| 3 | g.128481905G>T | CA354413630 | GATA2 | c.1057C>A (p.Gln353Lys) c.1339C>A (p.Gln447Lys) c.40C>A (p.Gln14Lys) c.1018-3C>A (n.1018-3C>A) n.174C>A | |
| 3 | g.128481906A>C | CA354413631 | GATA2 | c.1056T>G (p.Cys352Trp) c.1338T>G (p.Cys446Trp) c.39T>G (p.Cys13Trp) c.1018-4T>G (n.1018-4T>G) n.173T>G | |
| 3 | g.128481906A>G | CA435525601 | GATA2 | c.1056T>C (p.Cys352=) c.1338T>C (p.Cys446=) c.39T>C (p.Cys13=) c.1018-4T>C (n.1018-4T>C) n.173T>C | |
| 3 | g.128481906A>T | CA354413632 | GATA2 | c.1056T>A (p.Cys352Ter) c.1338T>A (p.Cys446Ter) c.39T>A (p.Cys13Ter) c.1018-4T>A (n.1018-4T>A) n.173T>A | |
| 3 | g.128481906_128481926dup | CA915941556 | GATA2 | c.1036_1056dup (p.Cys352_Gln353insGlyThrCysCysAlaAsnCys) c.1318_1338dup (p.Cys446_Gln447insGlyThrCysCysAlaAsnCys) c.19_39dup (p.Cys13_Gln14insGlyThrCysCysAlaAsnCys) c.1018-24_1018-4dup (n.1018-24_1018-4dup) n.153_173dup | ClinVar dbSNP |
| 3 | g.128481907C>A | CA354413633 | GATA2 | c.1055G>T (p.Cys352Phe) c.1337G>T (p.Cys446Phe) c.38G>T (p.Cys13Phe) c.1018-5G>T (n.1018-5G>T) n.172G>T | ClinVar dbSNP |
| 3 | g.128481907C>G | CA354413635 | GATA2 | c.1055G>C (p.Cys352Ser) c.1337G>C (p.Cys446Ser) c.38G>C (p.Cys13Ser) c.1018-5G>C (n.1018-5G>C) n.172G>C | |
| 3 | g.128481907C>T | CA354413634 | GATA2 | c.1055G>A (p.Cys352Tyr) c.1337G>A (p.Cys446Tyr) c.38G>A (p.Cys13Tyr) c.1018-5G>A (n.1018-5G>A) n.172G>A | |
| 3 | g.128481908A= | CA1400715238 | GATA2 | c.1054T= (p.Cys352=) c.1336T= (p.Cys446=) c.37T= (p.Cys13=) c.1018-6T= (n.1018-6T=) n.171T= | |
| 3 | g.128481908A>C | CA354413636 | GATA2 | c.1054T>G (p.Cys352Gly) c.1336T>G (p.Cys446Gly) c.37T>G (p.Cys13Gly) c.1018-6T>G (n.1018-6T>G) n.171T>G | ClinVar dbSNP |
| 3 | g.128481908A>G | CA208292 | GATA2 | c.1054T>C (p.Cys352Arg) c.1336T>C (p.Cys446Arg) c.37T>C (p.Cys13Arg) c.1018-6T>C (n.1018-6T>C) n.171T>C | ClinVar dbSNP |
| 3 | g.128481908A>T | CA354413637 | GATA2 | c.1054T>A (p.Cys352Ser) c.1336T>A (p.Cys446Ser) c.37T>A (p.Cys13Ser) c.1018-6T>A (n.1018-6T>A) n.171T>A | |
| 3 | g.128481909del | CA2499216435 | GATA2 | c.1054del (p.Cys352ValfsTer?) c.1336del (p.Cys446ValfsTer?) c.37del (p.Cys13ValfsTer?) c.1018-6del (n.1018-6del) n.171del | ClinVar dbSNP |
| 3 | g.128481909A= | CA1400715244 | GATA2 | c.1053T= (p.Asn351=) c.1335T= (p.Asn445=) c.36T= (p.Asn12=) c.1018-7T= (n.1018-7T=) n.170T= | |
| 3 | g.128481909A>C | CA354413638 | GATA2 | c.1053T>G (p.Asn351Lys) c.1335T>G (p.Asn445Lys) c.36T>G (p.Asn12Lys) c.1018-7T>G (n.1018-7T>G) n.170T>G | |
| 3 | g.128481909A>G | CA2599874 | GATA2 | c.1053T>C (p.Asn351=) c.1335T>C (p.Asn445=) c.36T>C (p.Asn12=) c.1018-7T>C (n.1018-7T>C) n.170T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481909A>T | CA354413639 | GATA2 | c.1053T>A (p.Asn351Lys) c.1335T>A (p.Asn445Lys) c.36T>A (p.Asn12Lys) c.1018-7T>A (n.1018-7T>A) n.170T>A | |
| 3 | g.128481910T>A | CA354413640 | GATA2 | c.1052A>T (p.Asn351Ile) c.1334A>T (p.Asn445Ile) c.35A>T (p.Asn12Ile) c.1018-8A>T (n.1018-8A>T) n.169A>T | COSMIC |
| 3 | g.128481910T>C | CA354413641 | GATA2 | c.1052A>G (p.Asn351Ser) c.1334A>G (p.Asn445Ser) c.35A>G (p.Asn12Ser) c.1018-8A>G (n.1018-8A>G) n.169A>G | ClinVar dbSNP |
| 3 | g.128481910T>G | CA354413642 | GATA2 | c.1052A>C (p.Asn351Thr) c.1334A>C (p.Asn445Thr) c.35A>C (p.Asn12Thr) c.1018-8A>C (n.1018-8A>C) n.169A>C | |
| 3 | g.128481910T= | CA1400715249 | GATA2 | c.1052A= (p.Asn351=) c.1334A= (p.Asn445=) c.35A= (p.Asn12=) c.1018-8A= (n.1018-8A=) n.169A= | |
| 3 | g.128481913_128481914insGACAACAGGTGCCTGACAATTTTG | CA645529128 | GATA2 | c.1052_1053insATTGTCAGGCACCTGTTGTCCAAA (p.Ala350_Asn351insLysLeuSerGlyThrCysCysPro) c.1334_1335insATTGTCAGGCACCTGTTGTCCAAA (p.Ala444_Asn445insLysLeuSerGlyThrCysCysPro) c.35_36insATTGTCAGGCACCTGTTGTCCAAA (p.Ala11_Asn12insLysLeuSerGlyThrCysCysPro) c.1018-8_1018-7insATTGTCAGGCACCTGTTGTCCAAA (n.1018-8_1018-7insATTGTCAGGCACCTGTTGTCCAAA) n.169_170insATTGTCAGGCACCTGTTGTCCAAA | COSMIC |
| 3 | g.128481911T>A | CA354413644 | GATA2 | c.1051A>T (p.Asn351Tyr) c.1333A>T (p.Asn445Tyr) c.34A>T (p.Asn12Tyr) c.1018-9A>T (n.1018-9A>T) n.168A>T | |
| 3 | g.128481911T>C | CA354413645 | GATA2 | c.1051A>G (p.Asn351Asp) c.1333A>G (p.Asn445Asp) c.34A>G (p.Asn12Asp) c.1018-9A>G (n.1018-9A>G) n.168A>G | COSMIC |
| 3 | g.128481911T>G | CA354413643 | GATA2 | c.1051A>C (p.Asn351His) c.1333A>C (p.Asn445His) c.34A>C (p.Asn12His) c.1018-9A>C (n.1018-9A>C) n.168A>C | |
| 3 | g.128481912T>A | CA435525602 | GATA2 | c.1050A>T (p.Ala350=) c.1332A>T (p.Ala444=) c.33A>T (p.Ala11=) c.1018-10A>T (n.1018-10A>T) n.167A>T | |
| 3 | g.128481912T>C | CA435525603 | GATA2 | c.1050A>G (p.Ala350=) c.1332A>G (p.Ala444=) c.33A>G (p.Ala11=) c.1018-10A>G (n.1018-10A>G) n.167A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481912T>G | CA435525604 | GATA2 | c.1050A>C (p.Ala350=) c.1332A>C (p.Ala444=) c.33A>C (p.Ala11=) c.1018-10A>C (n.1018-10A>C) n.167A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481912T= | CA1400715253 | GATA2 | c.1050A= (p.Ala350=) c.1332A= (p.Ala444=) c.33A= (p.Ala11=) c.1018-10A= (n.1018-10A=) n.167A= | |
| 3 | g.128481913G>A | CA354413646 | GATA2 | c.1049C>T (p.Ala350Val) c.1331C>T (p.Ala444Val) c.32C>T (p.Ala11Val) c.1018-11C>T (n.1018-11C>T) n.166C>T | COSMIC |
| 3 | g.128481913G>C | CA354413647 | GATA2 | c.1049C>G (p.Ala350Gly) c.1331C>G (p.Ala444Gly) c.32C>G (p.Ala11Gly) c.1018-11C>G (n.1018-11C>G) n.166C>G | |
| 3 | g.128481913G>T | CA354413648 | GATA2 | c.1049C>A (p.Ala350Glu) c.1331C>A (p.Ala444Glu) c.32C>A (p.Ala11Glu) c.1018-11C>A (n.1018-11C>A) n.166C>A | |
| 3 | g.128481913_128481931del | CA2499216436 | GATA2 | c.1031_1049del (p.Arg344LysfsTer?) c.1313_1331del (p.Arg438LysfsTer?) c.14_32del (p.Arg5LysfsTer?) c.1018-29_1018-11del (n.1018-29_1018-11del) n.148_166del | ClinVar dbSNP |
| 3 | g.128481914C>A | CA354413649 | GATA2 | c.1048G>T (p.Ala350Ser) c.1330G>T (p.Ala444Ser) c.31G>T (p.Ala11Ser) c.1018-12G>T (n.1018-12G>T) n.165G>T | |
| 3 | g.128481914C>G | CA354413650 | GATA2 | c.1048G>C (p.Ala350Pro) c.1330G>C (p.Ala444Pro) c.31G>C (p.Ala11Pro) c.1018-12G>C (n.1018-12G>C) n.165G>C | |
| 3 | g.128481914C>T | CA354413651 | GATA2 | c.1048G>A (p.Ala350Thr) c.1330G>A (p.Ala444Thr) c.31G>A (p.Ala11Thr) c.1018-12G>A (n.1018-12G>A) n.165G>A | gnomAD v4 |
| 3 | g.128481915A>C | CA354413652 | GATA2 | c.1047T>G (p.Cys349Trp) c.1329T>G (p.Cys443Trp) c.30T>G (p.Cys10Trp) c.1018-13T>G (n.1018-13T>G) n.164T>G | |
| 3 | g.128481915A>G | CA435525605 | GATA2 | c.1047T>C (p.Cys349=) c.1329T>C (p.Cys443=) c.30T>C (p.Cys10=) c.1018-13T>C (n.1018-13T>C) n.164T>C | |
| 3 | g.128481915A>T | CA354413653 | GATA2 | c.1047T>A (p.Cys349Ter) c.1329T>A (p.Cys443Ter) c.30T>A (p.Cys10Ter) c.1018-13T>A (n.1018-13T>A) n.164T>A | |
| 3 | g.128481916C>A | CA354413654 | GATA2 | c.1046G>T (p.Cys349Phe) c.1328G>T (p.Cys443Phe) c.29G>T (p.Cys10Phe) c.1018-14G>T (n.1018-14G>T) n.163G>T | ClinVar dbSNP |
| 3 | g.128481916C= | CA1400715256 | GATA2 | c.1046G= (p.Cys349=) c.1328G= (p.Cys443=) c.29G= (p.Cys10=) c.1018-14G= (n.1018-14G=) n.163G= | |
| 3 | g.128481916C>G | CA354413655 | GATA2 | c.1046G>C (p.Cys349Ser) c.1328G>C (p.Cys443Ser) c.29G>C (p.Cys10Ser) c.1018-14G>C (n.1018-14G>C) n.163G>C | |
| 3 | g.128481916C>T | CA354413656 | GATA2 | c.1046G>A (p.Cys349Tyr) c.1328G>A (p.Cys443Tyr) c.29G>A (p.Cys10Tyr) c.1018-14G>A (n.1018-14G>A) n.163G>A | ClinVar dbSNP |
| 3 | g.128481917A= | CA1400715260 | GATA2 | c.1045T= (p.Cys349=) c.1327T= (p.Cys443=) c.28T= (p.Cys10=) c.1018-15T= (n.1018-15T=) n.162T= | |
| 3 | g.128481917A>C | CA354413658 | GATA2 | c.1045T>G (p.Cys349Gly) c.1327T>G (p.Cys443Gly) c.28T>G (p.Cys10Gly) c.1018-15T>G (n.1018-15T>G) n.162T>G | ClinVar dbSNP |
| 3 | g.128481917A>G | CA354413659 | GATA2 | c.1045T>C (p.Cys349Arg) c.1327T>C (p.Cys443Arg) c.28T>C (p.Cys10Arg) c.1018-15T>C (n.1018-15T>C) n.162T>C | ClinVar dbSNP |
| 3 | g.128481917A>T | CA354413657 | GATA2 | c.1045T>A (p.Cys349Ser) c.1327T>A (p.Cys443Ser) c.28T>A (p.Cys10Ser) c.1018-15T>A (n.1018-15T>A) n.162T>A | |
| 3 | g.128481918A>C | CA354413660 | GATA2 | c.1044T>G (p.Cys348Trp) c.1326T>G (p.Cys442Trp) c.27T>G (p.Cys9Trp) c.1018-16T>G (n.1018-16T>G) n.161T>G | |
| 3 | g.128481918A>G | CA435525606 | GATA2 | c.1044T>C (p.Cys348=) c.1326T>C (p.Cys442=) c.27T>C (p.Cys9=) c.1018-16T>C (n.1018-16T>C) n.161T>C | |
| 3 | g.128481918A>T | CA354413661 | GATA2 | c.1044T>A (p.Cys348Ter) c.1326T>A (p.Cys442Ter) c.27T>A (p.Cys9Ter) c.1018-16T>A (n.1018-16T>A) n.161T>A | |
| 3 | g.128481919C>A | CA354413662 | GATA2 | c.1043G>T (p.Cys348Phe) c.1325G>T (p.Cys442Phe) c.26G>T (p.Cys9Phe) c.1018-17G>T (n.1018-17G>T) n.160G>T | |
| 3 | g.128481919C>G | CA354413663 | GATA2 | c.1043G>C (p.Cys348Ser) c.1325G>C (p.Cys442Ser) c.26G>C (p.Cys9Ser) c.1018-17G>C (n.1018-17G>C) n.160G>C | |
| 3 | g.128481919C>T | CA354413664 | GATA2 | c.1043G>A (p.Cys348Tyr) c.1325G>A (p.Cys442Tyr) c.26G>A (p.Cys9Tyr) c.1018-17G>A (n.1018-17G>A) n.160G>A | |
| 3 | g.128481920A>C | CA354413667 | GATA2 | c.1042T>G (p.Cys348Gly) c.1324T>G (p.Cys442Gly) c.25T>G (p.Cys9Gly) c.1018-18T>G (n.1018-18T>G) n.159T>G | |
| 3 | g.128481920A>G | CA354413665 | GATA2 | c.1042T>C (p.Cys348Arg) c.1324T>C (p.Cys442Arg) c.25T>C (p.Cys9Arg) c.1018-18T>C (n.1018-18T>C) n.159T>C | |
| 3 | g.128481920A>T | CA354413666 | GATA2 | c.1042T>A (p.Cys348Ser) c.1324T>A (p.Cys442Ser) c.25T>A (p.Cys9Ser) c.1018-18T>A (n.1018-18T>A) n.159T>A | |
| 3 | g.128481921G>A | CA435525607 | GATA2 | c.1041C>T (p.Thr347=) c.1323C>T (p.Thr441=) c.24C>T (p.Thr8=) c.1018-19C>T (n.1018-19C>T) n.158C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481921G>C | CA435525608 | GATA2 | c.1041C>G (p.Thr347=) c.1323C>G (p.Thr441=) c.24C>G (p.Thr8=) c.1018-19C>G (n.1018-19C>G) n.158C>G | ClinVar |
| 3 | g.128481921G= | CA1400715265 | GATA2 | c.1041C= (p.Thr347=) c.1323C= (p.Thr441=) c.24C= (p.Thr8=) c.1018-19C= (n.1018-19C=) n.158C= | |
| 3 | g.128481921G>T | CA435525609 | GATA2 | c.1041C>A (p.Thr347=) c.1323C>A (p.Thr441=) c.24C>A (p.Thr8=) c.1018-19C>A (n.1018-19C>A) n.158C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481921_128481922delinsAT | CA916081437 | GATA2 | c.1040_1041delinsAT (p.Thr347Asn) c.1322_1323delinsAT (p.Thr441Asn) c.23_24delinsAT (p.Thr8Asn) c.1018-20_1018-19delinsAT (n.1018-20_1018-19delinsAT) n.157_158delinsAT | ClinVar dbSNP |
| 3 | g.128481921_128481922delinsGG | CA1400715267 | GATA2 | c.1040_1041delinsCC (p.Thr347=) c.1322_1323delinsCC (p.Thr441=) c.23_24delinsCC (p.Thr8=) c.1018-20_1018-19delinsCC (n.1018-20_1018-19delinsCC) n.157_158delinsCC | |
| 3 | g.128481922del | CA2499216437 | GATA2 | c.1041del (p.Cys348ValfsTer?) c.1323del (p.Cys442ValfsTer?) c.24del (p.Cys9ValfsTer?) c.1018-19del (n.1018-19del) n.158del | ClinVar dbSNP |
| 3 | g.128481923_128481937del | CA2740090995 | GATA2 | c.1027_1041del (p.Arg343_Thr347del) c.1309_1323del (p.Arg437_Thr441del) c.10_24del (p.Arg4_Thr8del) c.1018-33_1018-19del (n.1018-33_1018-19del) n.144_158del | ClinVar |
| 3 | g.128481922G>A | CA354413668 | GATA2 | c.1040C>T (p.Thr347Ile) c.1322C>T (p.Thr441Ile) c.23C>T (p.Thr8Ile) c.1018-20C>T (n.1018-20C>T) n.157C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481922G>C | CA354413669 | GATA2 | c.1040C>G (p.Thr347Ser) c.1322C>G (p.Thr441Ser) c.23C>G (p.Thr8Ser) c.1018-20C>G (n.1018-20C>G) n.157C>G | |
| 3 | g.128481922G>T | CA354413670 | GATA2 | c.1040C>A (p.Thr347Asn) c.1322C>A (p.Thr441Asn) c.23C>A (p.Thr8Asn) c.1018-20C>A (n.1018-20C>A) n.157C>A | gnomAD v4 |
| 3 | g.128481923T>A | CA354413671 | GATA2 | c.1039A>T (p.Thr347Ser) c.1321A>T (p.Thr441Ser) c.22A>T (p.Thr8Ser) c.1018-21A>T (n.1018-21A>T) n.156A>T | |
| 3 | g.128481923T>C | CA354413672 | GATA2 | c.1039A>G (p.Thr347Ala) c.1321A>G (p.Thr441Ala) c.22A>G (p.Thr8Ala) c.1018-21A>G (n.1018-21A>G) n.156A>G | |
| 3 | g.128481923T>G | CA354413673 | GATA2 | c.1039A>C (p.Thr347Pro) c.1321A>C (p.Thr441Pro) c.22A>C (p.Thr8Pro) c.1018-21A>C (n.1018-21A>C) n.156A>C | |
| 3 | g.128481923T= | CA1400715274 | GATA2 | c.1039A= (p.Thr347=) c.1321A= (p.Thr441=) c.22A= (p.Thr8=) c.1018-21A= (n.1018-21A=) n.156A= | |
| 3 | g.128481924G>A | CA435525610 | GATA2 | c.1038C>T (p.Gly346=) c.1320C>T (p.Gly440=) c.21C>T (p.Gly7=) c.1018-22C>T (n.1018-22C>T) n.155C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481924G>C | CA435525611 | GATA2 | c.1038C>G (p.Gly346=) c.1320C>G (p.Gly440=) c.21C>G (p.Gly7=) c.1018-22C>G (n.1018-22C>G) n.155C>G | |
| 3 | g.128481924G= | CA1400715280 | GATA2 | c.1038C= (p.Gly346=) c.1320C= (p.Gly440=) c.21C= (p.Gly7=) c.1018-22C= (n.1018-22C=) n.155C= | |
| 3 | g.128481924G>T | CA435525612 | GATA2 | c.1038C>A (p.Gly346=) c.1320C>A (p.Gly440=) c.21C>A (p.Gly7=) c.1018-22C>A (n.1018-22C>A) n.155C>A | |
| 3 | g.128481924dup | CA2740090996 | GATA2 | c.1038dup (p.Thr347HisfsTer?) c.1320dup (p.Thr441HisfsTer?) c.21dup (p.Thr8HisfsTer?) c.1018-22dup (n.1018-22dup) n.155dup | ClinVar |
| 3 | g.128481926_128481929dup | CA2499216438 | GATA2 | c.1035_1038dup (p.Thr347ArgfsTer?) c.1317_1320dup (p.Thr441ArgfsTer?) c.18_21dup (p.Thr8ArgfsTer?) c.1018-25_1018-22dup (n.1018-25_1018-22dup) n.152_155dup | ClinVar dbSNP |
| 3 | g.128481924_128481941del | CA645529129 | GATA2 | c.1021_1038del (p.Ala341_Gly346del) c.1303_1320del (p.Ala435_Gly440del) c.4_21del (p.Ala2_Gly7del) c.1018-39_1018-22del (n.1018-39_1018-22del) n.138_155del | COSMIC |
| 3 | g.128481928_128481943dup | CA16021038 | GATA2 | c.1023_1038dup (p.Thr347ArgfsTer?) c.1305_1320dup (p.Thr441ArgfsTer?) c.6_21dup (p.Thr8ArgfsTer?) c.1018-37_1018-22dup (n.1018-37_1018-22dup) n.140_155dup | ClinVar dbSNP |
| 3 | g.128481925C>A | CA354413675 | GATA2 | c.1037G>T (p.Gly346Val) c.1319G>T (p.Gly440Val) c.20G>T (p.Gly7Val) c.1018-23G>T (n.1018-23G>T) n.154G>T | |
| 3 | g.128481925C>G | CA354413676 | GATA2 | c.1037G>C (p.Gly346Ala) c.1319G>C (p.Gly440Ala) c.20G>C (p.Gly7Ala) c.1018-23G>C (n.1018-23G>C) n.154G>C | ClinVar |
| 3 | g.128481925C>T | CA354413674 | GATA2 | c.1037G>A (p.Gly346Asp) c.1319G>A (p.Gly440Asp) c.20G>A (p.Gly7Asp) c.1018-23G>A (n.1018-23G>A) n.154G>A | gnomAD v4 |
| 3 | g.128481925_128481954del | CA2499216439 | GATA2 | c.1018-10_1037del c.1300-10_1319del c.1018-52_1018-23del (n.1018-52_1018-23del) n.125_154del | ClinVar dbSNP |
| 3 | g.128481926C>A | CA354413677 | GATA2 | c.1036G>T (p.Gly346Cys) c.1318G>T (p.Gly440Cys) c.19G>T (p.Gly7Cys) c.1018-24G>T (n.1018-24G>T) n.153G>T | |
| 3 | g.128481926C= | CA1400715287 | GATA2 | c.1036G= (p.Gly346=) c.1318G= (p.Gly440=) c.19G= (p.Gly7=) c.1018-24G= (n.1018-24G=) n.153G= | |
| 3 | g.128481926C>G | CA354413678 | GATA2 | c.1036G>C (p.Gly346Arg) c.1318G>C (p.Gly440Arg) c.19G>C (p.Gly7Arg) c.1018-24G>C (n.1018-24G>C) n.153G>C | ClinVar gnomAD v4 |
| 3 | g.128481926C>T | CA354413679 | GATA2 | c.1036G>A (p.Gly346Ser) c.1318G>A (p.Gly440Ser) c.19G>A (p.Gly7Ser) c.1018-24G>A (n.1018-24G>A) n.153G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481927_128481931dup | CA2586965876 | GATA2 | c.1032_1036dup (p.Gly346GlufsTer?) c.1314_1318dup (p.Gly440GlufsTer?) c.15_19dup (p.Gly7GlufsTer?) c.1018-28_1018-24dup (n.1018-28_1018-24dup) n.149_153dup | |
| 3 | g.128481926_128481944delinsAAATT | CA2580068712 | GATA2 | c.1018_1036delinsAATTT (p.Ser340AsnfsTer?) c.1300_1318delinsAATTT (p.Ser434AsnfsTer?) c.1_19delinsAATTT (p.Ser1AsnfsTer?) c.1018-42_1018-24delinsAATTT (n.1018-42_1018-24delinsAATTT) n.135_153delinsAATTT | ClinVar |
| 3 | g.128481927G>A | CA2599875 | GATA2 | c.1035C>T (p.Ala345=) c.1317C>T (p.Ala439=) c.18C>T (p.Ala6=) c.1018-25C>T (n.1018-25C>T) n.152C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481927G>C | CA10582134 | GATA2 | c.1035C>G (p.Ala345=) c.1317C>G (p.Ala439=) c.18C>G (p.Ala6=) c.1018-25C>G (n.1018-25C>G) n.152C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481927G= | CA1400715294 | GATA2 | c.1035C= (p.Ala345=) c.1317C= (p.Ala439=) c.18C= (p.Ala6=) c.1018-25C= (n.1018-25C=) n.152C= | |
| 3 | g.128481927G>T | CA435525613 | GATA2 | c.1035C>A (p.Ala345=) c.1317C>A (p.Ala439=) c.18C>A (p.Ala6=) c.1018-25C>A (n.1018-25C>A) n.152C>A | |
| 3 | g.128481929_128481930insCAGAGGC | CA2499216440 | GATA2 | c.1035_1036insTCTGGCC (p.Gly346SerfsTer?) c.1317_1318insTCTGGCC (p.Gly440SerfsTer?) c.18_19insTCTGGCC (p.Gly7SerfsTer?) c.1018-25_1018-24insTCTGGCC (n.1018-25_1018-24insTCTGGCC) n.152_153insTCTGGCC | ClinVar dbSNP |
| 3 | g.128481928G>A | CA354413680 | GATA2 | c.1034C>T (p.Ala345Val) c.1316C>T (p.Ala439Val) c.17C>T (p.Ala6Val) c.1018-26C>T (n.1018-26C>T) n.151C>T | |
| 3 | g.128481928G>C | CA354413681 | GATA2 | c.1034C>G (p.Ala345Gly) c.1316C>G (p.Ala439Gly) c.17C>G (p.Ala6Gly) c.1018-26C>G (n.1018-26C>G) n.151C>G | |
| 3 | g.128481928G>T | CA354413682 | GATA2 | c.1034C>A (p.Ala345Asp) c.1316C>A (p.Ala439Asp) c.17C>A (p.Ala6Asp) c.1018-26C>A (n.1018-26C>A) n.151C>A | ClinVar dbSNP |
| 3 | g.128481929_128481930insCGCCAGAAGAGCCGCCACAAGAAGAGC | CA1139533021 | GATA2 | c.1034_1035insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala345_Gly346insLeuLeuValAlaAlaLeuLeuAlaAla) c.1316_1317insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala439_Gly440insLeuLeuValAlaAlaLeuLeuAlaAla) c.17_18insTCTTCTTGTGGCGGCTCTTCTGGCGGC (p.Ala6_Gly7insLeuLeuValAlaAlaLeuLeuAlaAla) c.1018-26_1018-25insTCTTCTTGTGGCGGCTCTTCTGGCGGC (n.1018-26_1018-25insTCTTCTTGTGGCGGCTCTTCTGGCGGC) n.151_152insTCTTCTTGTGGCGGCTCTTCTGGCGGC | dbSNP |
| 3 | g.128481929C>A | CA354413683 | GATA2 | c.1033G>T (p.Ala345Ser) c.1315G>T (p.Ala439Ser) c.16G>T (p.Ala6Ser) c.1018-27G>T (n.1018-27G>T) n.150G>T | |
| 3 | g.128481929C>G | CA354413684 | GATA2 | c.1033G>C (p.Ala345Pro) c.1315G>C (p.Ala439Pro) c.16G>C (p.Ala6Pro) c.1018-27G>C (n.1018-27G>C) n.150G>C | |
| 3 | g.128481929C>T | CA354413685 | GATA2 | c.1033G>A (p.Ala345Thr) c.1315G>A (p.Ala439Thr) c.16G>A (p.Ala6Thr) c.1018-27G>A (n.1018-27G>A) n.150G>A | |
| 3 | g.128481930T>A | CA354413686 | GATA2 | c.1032A>T (p.Arg344Ser) c.1314A>T (p.Arg438Ser) c.15A>T (p.Arg5Ser) c.1018-28A>T (n.1018-28A>T) n.149A>T | gnomAD v4 |
| 3 | g.128481930T>C | CA435525614 | GATA2 | c.1032A>G (p.Arg344=) c.1314A>G (p.Arg438=) c.15A>G (p.Arg5=) c.1018-28A>G (n.1018-28A>G) n.149A>G | ClinVar dbSNP |
| 3 | g.128481930T>G | CA354413687 | GATA2 | c.1032A>C (p.Arg344Ser) c.1314A>C (p.Arg438Ser) c.15A>C (p.Arg5Ser) c.1018-28A>C (n.1018-28A>C) n.149A>C | |
| 3 | g.128481930T= | CA1400715300 | GATA2 | c.1032A= (p.Arg344=) c.1314A= (p.Arg438=) c.15A= (p.Arg5=) c.1018-28A= (n.1018-28A=) n.149A= | |
| 3 | g.128481931C>A | CA354413690 | GATA2 | c.1031G>T (p.Arg344Ile) c.1313G>T (p.Arg438Ile) c.14G>T (p.Arg5Ile) c.1018-29G>T (n.1018-29G>T) n.148G>T | dbSNP |
| 3 | g.128481931C= | CA1400715304 | GATA2 | c.1031G= (p.Arg344=) c.1313G= (p.Arg438=) c.14G= (p.Arg5=) c.1018-29G= (n.1018-29G=) n.148G= | |
| 3 | g.128481931C>G | CA354413689 | GATA2 | c.1031G>C (p.Arg344Thr) c.1313G>C (p.Arg438Thr) c.14G>C (p.Arg5Thr) c.1018-29G>C (n.1018-29G>C) n.148G>C | dbSNP |
| 3 | g.128481931C>T | CA354413688 | GATA2 | c.1031G>A (p.Arg344Lys) c.1313G>A (p.Arg438Lys) c.14G>A (p.Arg5Lys) c.1018-29G>A (n.1018-29G>A) n.148G>A | dbSNP gnomAD v4 |
| 3 | g.128481932_128481942del | CA2499216442 | GATA2 | c.1021_1031del (p.Ala341SerfsTer?) c.1303_1313del (p.Ala435SerfsTer?) c.4_14del (p.Ala2SerfsTer?) c.1018-39_1018-29del (n.1018-39_1018-29del) n.138_148del | ClinVar dbSNP |
| 3 | g.128481931_128481947del | CA2499216441 | GATA2 | c.1018-3_1031del c.1300-3_1313del c.1018-45_1018-29del (n.1018-45_1018-29del) n.132_148del | ClinVar dbSNP |
| 3 | g.128481932T>A | CA354413691 | GATA2 | c.1030A>T (p.Arg344Ter) c.1312A>T (p.Arg438Ter) c.13A>T (p.Arg5Ter) c.1018-30A>T (n.1018-30A>T) n.147A>T | |
| 3 | g.128481932T>C | CA354413692 | GATA2 | c.1030A>G (p.Arg344Gly) c.1312A>G (p.Arg438Gly) c.13A>G (p.Arg5Gly) c.1018-30A>G (n.1018-30A>G) n.147A>G | ClinVar |
| 3 | g.128481932T>G | CA435525615 | GATA2 | c.1030A>C (p.Arg344=) c.1312A>C (p.Arg438=) c.13A>C (p.Arg5=) c.1018-30A>C (n.1018-30A>C) n.147A>C | |
| 3 | g.128481933T>A | CA354413693 | GATA2 | c.1029A>T (p.Arg343Ser) c.1311A>T (p.Arg437Ser) c.12A>T (p.Arg4Ser) c.1018-31A>T (n.1018-31A>T) n.146A>T | |
| 3 | g.128481933T>C | CA435525616 | GATA2 | c.1029A>G (p.Arg343=) c.1311A>G (p.Arg437=) c.12A>G (p.Arg4=) c.1018-31A>G (n.1018-31A>G) n.146A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481933T>G | CA354413694 | GATA2 | c.1029A>C (p.Arg343Ser) c.1311A>C (p.Arg437Ser) c.12A>C (p.Arg4Ser) c.1018-31A>C (n.1018-31A>C) n.146A>C | |
| 3 | g.128481933T= | CA1400715309 | GATA2 | c.1029A= (p.Arg343=) c.1311A= (p.Arg437=) c.12A= (p.Arg4=) c.1018-31A= (n.1018-31A=) n.146A= | |
| 3 | g.128481933_128481942dup | CA2499216443 | GATA2 | c.1020_1029dup (p.Arg344GlyfsTer?) c.1302_1311dup (p.Arg438GlyfsTer?) c.3_12dup (p.Arg5GlyfsTer?) c.1018-40_1018-31dup (n.1018-40_1018-31dup) n.137_146dup | ClinVar dbSNP |
| 3 | g.128481934C>A | CA354413695 | GATA2 | c.1028G>T (p.Arg343Ile) c.1310G>T (p.Arg437Ile) c.11G>T (p.Arg4Ile) c.1018-32G>T (n.1018-32G>T) n.145G>T | |
| 3 | g.128481934C= | CA1400715316 | GATA2 | c.1028G= (p.Arg343=) c.1310G= (p.Arg437=) c.11G= (p.Arg4=) c.1018-32G= (n.1018-32G=) n.145G= | |
| 3 | g.128481934C>G | CA354413696 | GATA2 | c.1028G>C (p.Arg343Thr) c.1310G>C (p.Arg437Thr) c.11G>C (p.Arg4Thr) c.1018-32G>C (n.1018-32G>C) n.145G>C | |
| 3 | g.128481934C>T | CA354413697 | GATA2 | c.1028G>A (p.Arg343Lys) c.1310G>A (p.Arg437Lys) c.11G>A (p.Arg4Lys) c.1018-32G>A (n.1018-32G>A) n.145G>A | |
| 3 | g.128481934dup | CA2586965877 | GATA2 | c.1028dup (p.Arg344LysfsTer?) c.1310dup (p.Arg438LysfsTer?) c.11dup (p.Arg5LysfsTer?) c.1018-32dup (n.1018-32dup) n.145dup | |
| 3 | g.128481938_128481948del | CA2499216449 | GATA2 | c.1018_1028del c.1300_1310del c.1018-42_1018-32del (n.1018-42_1018-32del) n.135_145del | ClinVar |
| 3 | g.128481935T>A | CA354413698 | GATA2 | c.1027A>T (p.Arg343Ter) c.1309A>T (p.Arg437Ter) c.10A>T (p.Arg4Ter) c.1018-33A>T (n.1018-33A>T) n.144A>T | ClinVar dbSNP |
| 3 | g.128481935T>C | CA354413699 | GATA2 | c.1027A>G (p.Arg343Gly) c.1309A>G (p.Arg437Gly) c.10A>G (p.Arg4Gly) c.1018-33A>G (n.1018-33A>G) n.144A>G | gnomAD v4 |
| 3 | g.128481935T>G | CA435525617 | GATA2 | c.1027A>C (p.Arg343=) c.1309A>C (p.Arg437=) c.10A>C (p.Arg4=) c.1018-33A>C (n.1018-33A>C) n.144A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481935T= | CA1400715321 | GATA2 | c.1027A= (p.Arg343=) c.1309A= (p.Arg437=) c.10A= (p.Arg4=) c.1018-33A= (n.1018-33A=) n.144A= | |
| 3 | g.128481935_128481940dup | CA2599876 | GATA2 | c.1022_1027dup (p.Ala342_Arg343insThrAla) c.1304_1309dup (p.Ala436_Arg437insThrAla) c.5_10dup (p.Ala3_Arg4insThrAla) c.1018-38_1018-33dup (n.1018-38_1018-33dup) n.139_144dup | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481935_128481955del | CA2499216444 | GATA2 | c.1018-11_1027del c.1300-11_1309del c.1018-53_1018-33del (n.1018-53_1018-33del) n.124_144del | ClinVar dbSNP |
| 3 | g.128481936G>A | CA2599877 | GATA2 | c.1026C>T (p.Ala342=) c.1308C>T (p.Ala436=) c.9C>T (p.Ala3=) c.1018-34C>T (n.1018-34C>T) n.143C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481936G>C | CA435525618 | GATA2 | c.1026C>G (p.Ala342=) c.1308C>G (p.Ala436=) c.9C>G (p.Ala3=) c.1018-34C>G (n.1018-34C>G) n.143C>G | |
| 3 | g.128481936G= | CA1400715329 | GATA2 | c.1026C= (p.Ala342=) c.1308C= (p.Ala436=) c.9C= (p.Ala3=) c.1018-34C= (n.1018-34C=) n.143C= | |
| 3 | g.128481936G>T | CA435525619 | GATA2 | c.1026C>A (p.Ala342=) c.1308C>A (p.Ala436=) c.9C>A (p.Ala3=) c.1018-34C>A (n.1018-34C>A) n.143C>A | |
| 3 | g.128481937_128481940dup | CA2499216450 | GATA2 | c.1023_1026dup (p.Arg344GlnfsTer?) c.1305_1308dup (p.Arg438GlnfsTer?) c.6_9dup (p.Arg5GlnfsTer?) c.1018-37_1018-34dup (n.1018-37_1018-34dup) n.140_143dup | ClinVar dbSNP |
| 3 | g.128481939_128481941dup | CA916081438 | GATA2 | c.1024_1026dup (p.Ala342_Arg343insAla) c.1306_1308dup (p.Ala436_Arg437insAla) c.7_9dup (p.Ala3_Arg4insAla) c.1018-36_1018-34dup (n.1018-36_1018-34dup) n.141_143dup | ClinVar dbSNP |
| 3 | g.128481939_128481941del | CA2580616529 | GATA2 | c.1024_1026del (p.Ala342del) c.1306_1308del (p.Ala436del) c.7_9del (p.Ala3del) c.1018-36_1018-34del (n.1018-36_1018-34del) n.141_143del | ClinVar dbSNP |
| 3 | g.128481936_128481937insCGGC | CA2499216451 | GATA2 | c.1025_1026insGCCG (p.Arg343ProfsTer?) c.1307_1308insGCCG (p.Arg437ProfsTer?) c.8_9insGCCG (p.Arg4ProfsTer?) c.1018-35_1018-34insGCCG (n.1018-35_1018-34insGCCG) n.142_143insGCCG | ClinVar dbSNP |
| 3 | g.128481937G>A | CA2599878 | GATA2 | c.1025C>T (p.Ala342Val) c.1307C>T (p.Ala436Val) c.8C>T (p.Ala3Val) c.1018-35C>T (n.1018-35C>T) n.142C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481937G>C | CA354413700 | GATA2 | c.1025C>G (p.Ala342Gly) c.1307C>G (p.Ala436Gly) c.8C>G (p.Ala3Gly) c.1018-35C>G (n.1018-35C>G) n.142C>G | gnomAD v4 |
| 3 | g.128481937G= | CA1400715335 | GATA2 | c.1025C= (p.Ala342=) c.1307C= (p.Ala436=) c.8C= (p.Ala3=) c.1018-35C= (n.1018-35C=) n.142C= | |
| 3 | g.128481937G>T | CA354413701 | GATA2 | c.1025C>A (p.Ala342Asp) c.1307C>A (p.Ala436Asp) c.8C>A (p.Ala3Asp) c.1018-35C>A (n.1018-35C>A) n.142C>A | |
| 3 | g.128481938C>A | CA16611241 | GATA2 | c.1024G>T (p.Ala342Ser) c.1306G>T (p.Ala436Ser) c.7G>T (p.Ala3Ser) c.1018-36G>T (n.1018-36G>T) n.141G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481938C= | CA1400715353 | GATA2 | c.1024G= (p.Ala342=) c.1306G= (p.Ala436=) c.7G= (p.Ala3=) c.1018-36G= (n.1018-36G=) n.141G= | |
| 3 | g.128481938C>G | CA354413702 | GATA2 | c.1024G>C (p.Ala342Pro) c.1306G>C (p.Ala436Pro) c.7G>C (p.Ala3Pro) c.1018-36G>C (n.1018-36G>C) n.141G>C | |
| 3 | g.128481938C>T | CA2599879 | GATA2 | c.1024G>A (p.Ala342Thr) c.1306G>A (p.Ala436Thr) c.7G>A (p.Ala3Thr) c.1018-36G>A (n.1018-36G>A) n.141G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481938dup | CA1139658250 | GATA2 | c.1024dup (p.Ala342GlyfsTer?) c.1306dup (p.Ala436GlyfsTer?) c.7dup (p.Ala3GlyfsTer?) c.1018-36dup (n.1018-36dup) n.141dup | ClinVar dbSNP |
| 3 | g.128481940_128481943dup | CA10576018 | GATA2 | c.1021_1024dup (p.Ala342GlyfsTer?) c.1303_1306dup (p.Ala436GlyfsTer?) c.4_7dup (p.Ala3GlyfsTer?) c.1018-39_1018-36dup (n.1018-39_1018-36dup) n.138_141dup | ClinVar dbSNP |
| 3 | g.128481940_128481943del | CA2499216452 | GATA2 | c.1021_1024del (p.Ala341ProfsTer?) c.1303_1306del (p.Ala435ProfsTer?) c.4_7del (p.Ala2ProfsTer?) c.1018-39_1018-36del (n.1018-39_1018-36del) n.138_141del | ClinVar dbSNP |
| 3 | g.128481939_128481945del | CA2586965878 | GATA2 | c.1018_1024del c.1300_1306del c.1018-42_1018-36del (n.1018-42_1018-36del) n.135_141del | |
| 3 | g.128481939G>A | CA2599880 | GATA2 | c.1023C>T (p.Ala341=) c.1305C>T (p.Ala435=) c.6C>T (p.Ala2=) c.1018-37C>T (n.1018-37C>T) n.140C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481939G>C | CA435525620 | GATA2 | c.1023C>G (p.Ala341=) c.1305C>G (p.Ala435=) c.6C>G (p.Ala2=) c.1018-37C>G (n.1018-37C>G) n.140C>G | ClinVar |
| 3 | g.128481939G= | CA1400715358 | GATA2 | c.1023C= (p.Ala341=) c.1305C= (p.Ala435=) c.6C= (p.Ala2=) c.1018-37C= (n.1018-37C=) n.140C= | |
| 3 | g.128481939G>T | CA435525621 | GATA2 | c.1023C>A (p.Ala341=) c.1305C>A (p.Ala435=) c.6C>A (p.Ala2=) c.1018-37C>A (n.1018-37C>A) n.140C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481940dup | CA2499216453 | GATA2 | c.1023dup (p.Ala342ArgfsTer?) c.1305dup (p.Ala436ArgfsTer?) c.6dup (p.Ala3ArgfsTer?) c.1018-37dup (n.1018-37dup) n.140dup | ClinVar dbSNP |
| 3 | g.128481940del | CA2499216454 | GATA2 | c.1023del (p.Ala342ProfsTer?) c.1305del (p.Ala436ProfsTer?) c.6del (p.Ala3ProfsTer?) c.1018-37del (n.1018-37del) n.140del | ClinVar dbSNP |
| 3 | g.128481939_128481943delinsAAGGC | CA658657335 | GATA2 | c.1019_1023delinsGCCTT (p.Ser340_Ala341delinsCysLeu) c.1301_1305delinsGCCTT (p.Ser434_Ala435delinsCysLeu) c.2_6delinsGCCTT (p.Ser1_Ala2delinsCysLeu) c.1018-41_1018-37delinsGCCTT (n.1018-41_1018-37delinsGCCTT) n.136_140delinsGCCTT | ClinVar dbSNP |
| 3 | g.128481939_128481943delinsGGCCG | CA1400715360 | GATA2 | c.1019_1023delinsCGGCC (p.Ser340=) c.1301_1305delinsCGGCC (p.Ser434=) c.2_6delinsCGGCC (p.Ser1=) c.1018-41_1018-37delinsCGGCC (n.1018-41_1018-37delinsCGGCC) n.136_140delinsCGGCC | |
| 3 | g.128481940G>A | CA354413703 | GATA2 | c.1022C>T (p.Ala341Val) c.1304C>T (p.Ala435Val) c.5C>T (p.Ala2Val) c.1018-38C>T (n.1018-38C>T) n.139C>T | |
| 3 | g.128481940G>C | CA354413704 | GATA2 | c.1022C>G (p.Ala341Gly) c.1304C>G (p.Ala435Gly) c.5C>G (p.Ala2Gly) c.1018-38C>G (n.1018-38C>G) n.139C>G | dbSNP |
| 3 | g.128481940G= | CA1400715365 | GATA2 | c.1022C= (p.Ala341=) c.1304C= (p.Ala435=) c.5C= (p.Ala2=) c.1018-38C= (n.1018-38C=) n.139C= | |
| 3 | g.128481940G>T | CA354413705 | GATA2 | c.1022C>A (p.Ala341Asp) c.1304C>A (p.Ala435Asp) c.5C>A (p.Ala2Asp) c.1018-38C>A (n.1018-38C>A) n.139C>A | |
| 3 | g.128481940_128481941delinsGC | CA1400715364 | GATA2 | c.1021_1022delinsGC (p.Ala341=) c.1303_1304delinsGC (p.Ala435=) c.4_5delinsGC (p.Ala2=) c.1018-39_1018-38delinsGC (n.1018-39_1018-38delinsGC) n.138_139delinsGC |