| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128481765_128481836del | CA2580068704 | GATA2 | c.1126_1143+54del c.1408_1425+54del c.109_126+54del c.1084_1101+54del n.243_260+54del | ClinVar |
| 3 | g.128481827G>A | CA435525517 | GATA2 | c.1135C>T (p.Leu379=) c.1417C>T (p.Leu473=) c.118C>T (p.Leu40=) c.1093C>T (p.Leu365=) n.252C>T | |
| 3 | g.128481827G>C | CA354413462 | GATA2 | c.1135C>G (p.Leu379Val) c.1417C>G (p.Leu473Val) c.118C>G (p.Leu40Val) c.1093C>G (p.Leu365Val) n.252C>G | |
| 3 | g.128481827G>T | CA354413463 | GATA2 | c.1135C>A (p.Leu379Met) c.1417C>A (p.Leu473Met) c.118C>A (p.Leu40Met) c.1093C>A (p.Leu365Met) n.252C>A | |
| 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.128481828C>A | CA354413464 | GATA2 | c.1134G>T (p.Lys378Asn) c.1416G>T (p.Lys472Asn) c.117G>T (p.Lys39Asn) c.1092G>T (p.Lys364Asn) n.251G>T | |
| 3 | g.128481828C= | CA1400715038 | GATA2 | c.1134G= (p.Lys378=) c.1416G= (p.Lys472=) c.117G= (p.Lys39=) c.1092G= (p.Lys364=) n.251G= | |
| 3 | g.128481828C>G | CA354413465 | GATA2 | c.1134G>C (p.Lys378Asn) c.1416G>C (p.Lys472Asn) c.117G>C (p.Lys39Asn) c.1092G>C (p.Lys364Asn) n.251G>C | |
| 3 | g.128481828C>T | CA435525518 | GATA2 | c.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 |
| 3 | g.128481829T>A | CA354413466 | GATA2 | c.1133A>T (p.Lys378Met) c.1415A>T (p.Lys472Met) c.116A>T (p.Lys39Met) c.1091A>T (p.Lys364Met) n.250A>T | |
| 3 | g.128481829T>C | CA354413467 | GATA2 | c.1133A>G (p.Lys378Arg) c.1415A>G (p.Lys472Arg) c.116A>G (p.Lys39Arg) c.1091A>G (p.Lys364Arg) n.250A>G | |
| 3 | g.128481829T>G | CA354413468 | GATA2 | c.1133A>C (p.Lys378Thr) c.1415A>C (p.Lys472Thr) c.116A>C (p.Lys39Thr) c.1091A>C (p.Lys364Thr) n.250A>C | |
| 3 | g.128481829_128481836dup | CA1139771361 | GATA2 | c.1126_1133dup (p.Lys378AsnfsTer12) c.1408_1415dup (p.Lys472AsnfsTer12) c.109_116dup (p.Lys39AsnfsTer?) c.1084_1091dup (p.Lys364AsnfsTer12) n.243_250dup | ClinVar dbSNP |
| 3 | g.128481830T>A | CA354413469 | GATA2 | c.1132A>T (p.Lys378Ter) c.1414A>T (p.Lys472Ter) c.115A>T (p.Lys39Ter) c.1090A>T (p.Lys364Ter) n.249A>T | ClinVar dbSNP |
| 3 | g.128481830T>C | CA354413470 | GATA2 | c.1132A>G (p.Lys378Glu) c.1414A>G (p.Lys472Glu) c.115A>G (p.Lys39Glu) c.1090A>G (p.Lys364Glu) n.249A>G | |
| 3 | g.128481830T>G | CA354413471 | GATA2 | c.1132A>C (p.Lys378Gln) c.1414A>C (p.Lys472Gln) c.115A>C (p.Lys39Gln) c.1090A>C (p.Lys364Gln) n.249A>C | |
| 3 | g.128481831G>A | CA435525521 | GATA2 | c.1131C>T (p.Tyr377=) c.1413C>T (p.Tyr471=) c.114C>T (p.Tyr38=) c.1089C>T (p.Tyr363=) n.248C>T | |
| 3 | g.128481831G>C | CA354413472 | GATA2 | c.1131C>G (p.Tyr377Ter) c.1413C>G (p.Tyr471Ter) c.114C>G (p.Tyr38Ter) c.1089C>G (p.Tyr363Ter) n.248C>G | |
| 3 | g.128481831G>T | CA354413473 | GATA2 | c.1131C>A (p.Tyr377Ter) c.1413C>A (p.Tyr471Ter) c.114C>A (p.Tyr38Ter) c.1089C>A (p.Tyr363Ter) n.248C>A | |
| 3 | g.128481835_128481837del | CA2577890722 | GATA2 | c.1129_1131del (p.Tyr377del) c.1411_1413del (p.Tyr471del) c.112_114del (p.Tyr38del) c.1087_1089del (p.Tyr363del) n.246_248del | |
| 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.128481832T>A | CA354413475 | GATA2 | c.1130A>T (p.Tyr377Phe) c.1412A>T (p.Tyr471Phe) c.113A>T (p.Tyr38Phe) c.1088A>T (p.Tyr363Phe) n.247A>T | |
| 3 | g.128481832T>C | CA354413476 | GATA2 | c.1130A>G (p.Tyr377Cys) c.1412A>G (p.Tyr471Cys) c.113A>G (p.Tyr38Cys) c.1088A>G (p.Tyr363Cys) n.247A>G | |
| 3 | g.128481832T>G | CA354413474 | GATA2 | c.1130A>C (p.Tyr377Ser) c.1412A>C (p.Tyr471Ser) c.113A>C (p.Tyr38Ser) c.1088A>C (p.Tyr363Ser) n.247A>C | |
| 3 | g.128481833A>C | CA354413477 | GATA2 | c.1129T>G (p.Tyr377Asp) c.1411T>G (p.Tyr471Asp) c.112T>G (p.Tyr38Asp) c.1087T>G (p.Tyr363Asp) n.246T>G | ClinVar dbSNP |
| 3 | g.128481833A>G | CA354413478 | GATA2 | c.1129T>C (p.Tyr377His) c.1411T>C (p.Tyr471His) c.112T>C (p.Tyr38His) c.1087T>C (p.Tyr363His) n.246T>C | gnomAD v4 |
| 3 | g.128481833A>T | CA354413479 | GATA2 | c.1129T>A (p.Tyr377Asn) c.1411T>A (p.Tyr471Asn) c.112T>A (p.Tyr38Asn) c.1087T>A (p.Tyr363Asn) n.246T>A | |
| 3 | g.128481834G>A | CA2599865 | GATA2 | c.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 |
| 3 | g.128481834G>C | CA354413480 | GATA2 | c.1128C>G (p.Tyr376Ter) c.1410C>G (p.Tyr470Ter) c.111C>G (p.Tyr37Ter) c.1086C>G (p.Tyr362Ter) n.245C>G | ClinVar dbSNP |
| 3 | g.128481834G= | CA1400715043 | GATA2 | c.1128C= (p.Tyr376=) c.1410C= (p.Tyr470=) c.111C= (p.Tyr37=) c.1086C= (p.Tyr362=) n.245C= | |
| 3 | g.128481834G>T | CA354413481 | GATA2 | c.1128C>A (p.Tyr376Ter) c.1410C>A (p.Tyr470Ter) c.111C>A (p.Tyr37Ter) c.1086C>A (p.Tyr362Ter) n.245C>A | ClinVar dbSNP |
| 3 | g.128481835T>A | CA354413482 | GATA2 | c.1127A>T (p.Tyr376Phe) c.1409A>T (p.Tyr470Phe) c.110A>T (p.Tyr37Phe) c.1085A>T (p.Tyr362Phe) n.244A>T | |
| 3 | g.128481835T>C | CA354413483 | GATA2 | c.1127A>G (p.Tyr376Cys) c.1409A>G (p.Tyr470Cys) c.110A>G (p.Tyr37Cys) c.1085A>G (p.Tyr362Cys) n.244A>G | |
| 3 | g.128481835T>G | CA354413484 | GATA2 | c.1127A>C (p.Tyr376Ser) c.1409A>C (p.Tyr470Ser) c.110A>C (p.Tyr37Ser) c.1085A>C (p.Tyr362Ser) n.244A>C | |
| 3 | g.128481836A= | CA1400715048 | GATA2 | c.1126T= (p.Tyr376=) c.1408T= (p.Tyr470=) c.109T= (p.Tyr37=) c.1084T= (p.Tyr362=) n.243T= | |
| 3 | g.128481836A>C | CA354413485 | GATA2 | c.1126T>G (p.Tyr376Asp) c.1408T>G (p.Tyr470Asp) c.109T>G (p.Tyr37Asp) c.1084T>G (p.Tyr362Asp) n.243T>G | |
| 3 | g.128481836A>G | CA354413486 | GATA2 | c.1126T>C (p.Tyr376His) c.1408T>C (p.Tyr470His) c.109T>C (p.Tyr37His) c.1084T>C (p.Tyr362His) n.243T>C | |
| 3 | g.128481836A>T | CA354413487 | GATA2 | c.1126T>A (p.Tyr376Asn) c.1408T>A (p.Tyr470Asn) c.109T>A (p.Tyr37Asn) c.1084T>A (p.Tyr362Asn) n.243T>A | |
| 3 | g.128481837G>A | CA435525524 | GATA2 | c.1125C>T (p.Leu375=) c.1407C>T (p.Leu469=) c.108C>T (p.Leu36=) c.1083C>T (p.Leu361=) n.242C>T | COSMIC |
| 3 | g.128481837G>C | CA435525525 | GATA2 | c.1125C>G (p.Leu375=) c.1407C>G (p.Leu469=) c.108C>G (p.Leu36=) c.1083C>G (p.Leu361=) n.242C>G | ClinVar |
| 3 | g.128481837G>T | CA435525526 | GATA2 | c.1125C>A (p.Leu375=) c.1407C>A (p.Leu469=) c.108C>A (p.Leu36=) c.1083C>A (p.Leu361=) n.242C>A | |
| 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.128481838del | CA2499216430 | GATA2 | c.1124del (p.Leu375ProfsTer12) c.1406del (p.Leu469ProfsTer12) c.107del (p.Leu36ProfsTer?) c.1082del (p.Leu361ProfsTer12) n.241del | ClinVar dbSNP |
| 3 | g.128481838A>C | CA354413488 | GATA2 | c.1124T>G (p.Leu375Arg) c.1406T>G (p.Leu469Arg) c.107T>G (p.Leu36Arg) c.1082T>G (p.Leu361Arg) n.241T>G | |
| 3 | g.128481838A>G | CA354413489 | GATA2 | c.1124T>C (p.Leu375Pro) c.1406T>C (p.Leu469Pro) c.107T>C (p.Leu36Pro) c.1082T>C (p.Leu361Pro) n.241T>C | |
| 3 | g.128481838A>T | CA354413490 | GATA2 | c.1124T>A (p.Leu375His) c.1406T>A (p.Leu469His) c.107T>A (p.Leu36His) c.1082T>A (p.Leu361His) n.241T>A | |
| 3 | g.128481839G>A | CA354413491 | GATA2 | c.1123C>T (p.Leu375Phe) c.1405C>T (p.Leu469Phe) c.106C>T (p.Leu36Phe) c.1081C>T (p.Leu361Phe) n.240C>T | ClinVar dbSNP |
| 3 | g.128481839G>C | CA354413492 | GATA2 | c.1123C>G (p.Leu375Val) c.1405C>G (p.Leu469Val) c.106C>G (p.Leu36Val) c.1081C>G (p.Leu361Val) n.240C>G | ClinVar dbSNP |
| 3 | g.128481839G>T | CA354413493 | GATA2 | c.1123C>A (p.Leu375Ile) c.1405C>A (p.Leu469Ile) c.106C>A (p.Leu36Ile) c.1081C>A (p.Leu361Ile) n.240C>A | COSMIC |
| 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 |