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.128481821del | CA2499216428 | GATA2 | c.1142del (p.Asn381MetfsTer6) c.1424del (p.Asn475MetfsTer6) c.125del (p.Asn42MetfsTer?) c.1100del (p.Asn367MetfsTer6) n.259del | ClinVar dbSNP |
3 | g.128481821T>A | CA354413449 | GATA2 | c.1141A>T (p.Asn381Tyr) c.1423A>T (p.Asn475Tyr) c.124A>T (p.Asn42Tyr) c.1099A>T (p.Asn367Tyr) n.258A>T | |
3 | g.128481821T>C | CA354413451 | GATA2 | c.1141A>G (p.Asn381Asp) c.1423A>G (p.Asn475Asp) c.124A>G (p.Asn42Asp) c.1099A>G (p.Asn367Asp) n.258A>G | ClinVar |
3 | g.128481821T>G | CA354413450 | GATA2 | c.1141A>C (p.Asn381His) c.1423A>C (p.Asn475His) c.124A>C (p.Asn42His) c.1099A>C (p.Asn367His) n.258A>C | |
3 | g.128481822G>A | CA435525514 | GATA2 | c.1140C>T (p.His380=) c.1422C>T (p.His474=) c.123C>T (p.His41=) c.1098C>T (p.His366=) n.257C>T | ClinVar dbSNP |
3 | g.128481822G>C | CA354413452 | GATA2 | c.1140C>G (p.His380Gln) c.1422C>G (p.His474Gln) c.123C>G (p.His41Gln) c.1098C>G (p.His366Gln) n.257C>G | |
3 | g.128481822G>T | CA354413453 | GATA2 | c.1140C>A (p.His380Gln) c.1422C>A (p.His474Gln) c.123C>A (p.His41Gln) c.1098C>A (p.His366Gln) n.257C>A | |
3 | g.128481823T>A | CA354413454 | GATA2 | c.1139A>T (p.His380Leu) c.1421A>T (p.His474Leu) c.122A>T (p.His41Leu) c.1097A>T (p.His366Leu) n.256A>T | |
3 | g.128481823T>C | CA354413455 | GATA2 | c.1139A>G (p.His380Arg) c.1421A>G (p.His474Arg) c.122A>G (p.His41Arg) c.1097A>G (p.His366Arg) n.256A>G | |
3 | g.128481823T>G | CA354413456 | GATA2 | c.1139A>C (p.His380Pro) c.1421A>C (p.His474Pro) c.122A>C (p.His41Pro) c.1097A>C (p.His366Pro) n.256A>C | |
3 | g.128481824G>A | CA354413457 | GATA2 | c.1138C>T (p.His380Tyr) c.1420C>T (p.His474Tyr) c.121C>T (p.His41Tyr) c.1096C>T (p.His366Tyr) n.255C>T | |
3 | g.128481824G>C | CA354413458 | GATA2 | c.1138C>G (p.His380Asp) c.1420C>G (p.His474Asp) c.121C>G (p.His41Asp) c.1096C>G (p.His366Asp) n.255C>G | |
3 | g.128481824G>T | CA354413459 | GATA2 | c.1138C>A (p.His380Asn) c.1420C>A (p.His474Asn) c.121C>A (p.His41Asn) c.1096C>A (p.His366Asn) n.255C>A | |
3 | g.128481825C>A | CA435525515 | GATA2 | c.1137G>T (p.Leu379=) c.1419G>T (p.Leu473=) c.120G>T (p.Leu40=) c.1095G>T (p.Leu365=) n.254G>T | |
3 | g.128481825C= | CA1400715030 | GATA2 | c.1137G= (p.Leu379=) c.1419G= (p.Leu473=) c.120G= (p.Leu40=) c.1095G= (p.Leu365=) n.254G= | |
3 | g.128481825C>G | CA435525516 | GATA2 | c.1137G>C (p.Leu379=) c.1419G>C (p.Leu473=) c.120G>C (p.Leu40=) c.1095G>C (p.Leu365=) n.254G>C | |
3 | g.128481825C>T | CA2599863 | GATA2 | c.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 |
3 | g.128481826del | CA915940965 | GATA2 | c.1136del (p.Leu379ArgfsTer8) c.1418del (p.Leu473ArgfsTer8) c.119del (p.Leu40ArgfsTer?) c.1094del (p.Leu365ArgfsTer8) n.253del | |
3 | g.128481826A= | CA1400715034 | GATA2 | c.1136T= (p.Leu379=) c.1418T= (p.Leu473=) c.119T= (p.Leu40=) c.1094T= (p.Leu365=) n.253T= | |
3 | g.128481826A>C | CA354413460 | GATA2 | c.1136T>G (p.Leu379Arg) c.1418T>G (p.Leu473Arg) c.119T>G (p.Leu40Arg) c.1094T>G (p.Leu365Arg) n.253T>G | |
3 | g.128481826A>G | CA354413461 | GATA2 | c.1136T>C (p.Leu379Pro) c.1418T>C (p.Leu473Pro) c.119T>C (p.Leu40Pro) c.1094T>C (p.Leu365Pro) n.253T>C | |
3 | g.128481826A>T | CA2599864 | GATA2 | c.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 |
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 |
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 | ClinVar |
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 |