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.128485200_128487231del | CA358451 | GATA2 | c.-45-155_871+527del c.238-155_1153+527del | ClinVar |
| 3 | g.128485206_128487871del | CA916081440 | GATA2 | c.-200_871+527del c.83_1153+527del c.-45-789_871+527del | |
| 3 | g.128486266_128486268dup | CA2580616525 | GATA2 | c.337_339dup (p.His113_Asn114insHis) c.619_621dup (p.His207_Asn208insHis) | ClinVar dbSNP |
| 3 | g.128486266_128486268del | CA2600039 | GATA2 | c.337_339del (p.His113del) c.619_621del (p.His207del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486262G>A | CA435764063 | GATA2 | c.336C>T (p.His112=) c.618C>T (p.His206=) | |
| 3 | g.128486262G>C | CA354407269 | GATA2 | c.336C>G (p.His112Gln) c.618C>G (p.His206Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486262G= | CA1400719483 | GATA2 | c.336C= (p.His112=) c.618C= (p.His206=) | |
| 3 | g.128486262G>T | CA354407268 | GATA2 | c.336C>A (p.His112Gln) c.618C>A (p.His206Gln) | dbSNP |
| 3 | g.128486263T>A | CA354407272 | GATA2 | c.335A>T (p.His112Leu) c.617A>T (p.His206Leu) | |
| 3 | g.128486263T>C | CA354407275 | GATA2 | c.335A>G (p.His112Arg) c.617A>G (p.His206Arg) | ClinVar dbSNP |
| 3 | g.128486263T>G | CA354407278 | GATA2 | c.335A>C (p.His112Pro) c.617A>C (p.His206Pro) | |
| 3 | g.128486264G>A | CA354407279 | GATA2 | c.334C>T (p.His112Tyr) c.616C>T (p.His206Tyr) | |
| 3 | g.128486264G>C | CA354407282 | GATA2 | c.334C>G (p.His112Asp) c.616C>G (p.His206Asp) | ClinVar gnomAD v4 |
| 3 | g.128486264G>T | CA354407283 | GATA2 | c.334C>A (p.His112Asn) c.616C>A (p.His206Asn) | gnomAD v4 |
| 3 | g.128486265G>A | CA2600040 | GATA2 | c.333C>T (p.His111=) c.615C>T (p.His205=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486265G>C | CA354407289 | GATA2 | c.333C>G (p.His111Gln) c.615C>G (p.His205Gln) | |
| 3 | g.128486265G= | CA1400719484 | GATA2 | c.333C= (p.His111=) c.615C= (p.His205=) | |
| 3 | g.128486265G>T | CA354407291 | GATA2 | c.333C>A (p.His111Gln) c.615C>A (p.His205Gln) | gnomAD v4 |
| 3 | g.128486266T>A | CA354407294 | GATA2 | c.332A>T (p.His111Leu) c.614A>T (p.His205Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486266T>C | CA354407296 | GATA2 | c.332A>G (p.His111Arg) c.614A>G (p.His205Arg) | |
| 3 | g.128486266T>G | CA354407298 | GATA2 | c.332A>C (p.His111Pro) c.614A>C (p.His205Pro) | dbSNP |
| 3 | g.128486266T= | CA1400719485 | GATA2 | c.332A= (p.His111=) c.614A= (p.His205=) | |
| 3 | g.128486267G>A | CA354407301 | GATA2 | c.331C>T (p.His111Tyr) c.613C>T (p.His205Tyr) | gnomAD v4 |
| 3 | g.128486267G>C | CA354407303 | GATA2 | c.331C>G (p.His111Asp) c.613C>G (p.His205Asp) | |
| 3 | g.128486267G>T | CA354407300 | GATA2 | c.331C>A (p.His111Asn) c.613C>A (p.His205Asn) | COSMIC |
| 3 | g.128486268G>A | CA435764072 | GATA2 | c.330C>T (p.Ala110=) c.612C>T (p.Ala204=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486268G>C | CA435764073 | GATA2 | c.330C>G (p.Ala110=) c.612C>G (p.Ala204=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486268G= | CA1400719486 | GATA2 | c.330C= (p.Ala110=) c.612C= (p.Ala204=) | |
| 3 | g.128486268G>T | CA435764075 | GATA2 | c.330C>A (p.Ala110=) c.612C>A (p.Ala204=) | gnomAD v4 |
| 3 | g.128486269G>A | CA354407306 | GATA2 | c.329C>T (p.Ala110Val) c.611C>T (p.Ala204Val) | ClinVar gnomAD v4 |
| 3 | g.128486269G>C | CA354407308 | GATA2 | c.329C>G (p.Ala110Gly) c.611C>G (p.Ala204Gly) | dbSNP |
| 3 | g.128486269G= | CA1400719487 | GATA2 | c.329C= (p.Ala110=) c.611C= (p.Ala204=) | |
| 3 | g.128486269G>T | CA354407309 | GATA2 | c.329C>A (p.Ala110Asp) c.611C>A (p.Ala204Asp) | gnomAD v4 |
| 3 | g.128486270C>A | CA354407312 | GATA2 | c.328G>T (p.Ala110Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
| 3 | g.128486270C= | CA1400719488 | GATA2 | c.328G= (p.Ala110=) c.610G= (p.Ala204=) | |
| 3 | g.128486270C>G | CA83372059 | GATA2 | c.328G>C (p.Ala110Pro) c.610G>C (p.Ala204Pro) | dbSNP |
| 3 | g.128486270C>T | CA354407317 | GATA2 | c.328G>A (p.Ala110Thr) c.610G>A (p.Ala204Thr) | |
| 3 | g.128486271C>A | CA435764079 | GATA2 | c.327G>T (p.Ala109=) c.609G>T (p.Ala203=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486271C= | CA1400719489 | GATA2 | c.327G= (p.Ala109=) c.609G= (p.Ala203=) | |
| 3 | g.128486271C>G | CA435764080 | GATA2 | c.327G>C (p.Ala109=) c.609G>C (p.Ala203=) | |
| 3 | g.128486271C>T | CA83372065 | GATA2 | c.327G>A (p.Ala109=) c.609G>A (p.Ala203=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486272G>A | CA354407321 | GATA2 | c.326C>T (p.Ala109Val) c.608C>T (p.Ala203Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128486272G>C | CA354407323 | GATA2 | c.326C>G (p.Ala109Gly) c.608C>G (p.Ala203Gly) | |
| 3 | g.128486272G= | CA1400719490 | GATA2 | c.326C= (p.Ala109=) c.608C= (p.Ala203=) | |
| 3 | g.128486272G>T | CA354407325 | GATA2 | c.326C>A (p.Ala109Glu) c.608C>A (p.Ala203Glu) | ClinVar |
| 3 | g.128486273C>A | CA354407327 | GATA2 | c.325G>T (p.Ala109Ser) c.607G>T (p.Ala203Ser) | |
| 3 | g.128486273C>G | CA354407329 | GATA2 | c.325G>C (p.Ala109Pro) c.607G>C (p.Ala203Pro) | |
| 3 | g.128486273C>T | CA354407336 | GATA2 | c.325G>A (p.Ala109Thr) c.607G>A (p.Ala203Thr) | |
| 3 | g.128486274A>C | CA435764082 | GATA2 | c.324T>G (p.Ala108=) c.606T>G (p.Ala202=) | |
| 3 | g.128486274A>G | CA435764083 | GATA2 | c.324T>C (p.Ala108=) c.606T>C (p.Ala202=) | gnomAD v4 |
| 3 | g.128486274A>T | CA435764084 | GATA2 | c.324T>A (p.Ala108=) c.606T>A (p.Ala202=) | |
| 3 | g.128486275G>A | CA354407345 | GATA2 | c.323C>T (p.Ala108Val) c.605C>T (p.Ala202Val) | ClinVar gnomAD v4 |
| 3 | g.128486275G>C | CA354407342 | GATA2 | c.323C>G (p.Ala108Gly) c.605C>G (p.Ala202Gly) | |
| 3 | g.128486275G>T | CA354407339 | GATA2 | c.323C>A (p.Ala108Asp) c.605C>A (p.Ala202Asp) | gnomAD v4 |
| 3 | g.128486276C>A | CA354407348 | GATA2 | c.322G>T (p.Ala108Ser) c.604G>T (p.Ala202Ser) | ClinVar gnomAD v4 |
| 3 | g.128486276C= | CA1400719491 | GATA2 | c.322G= (p.Ala108=) c.604G= (p.Ala202=) | |
| 3 | g.128486276C>G | CA354407350 | GATA2 | c.322G>C (p.Ala108Pro) c.604G>C (p.Ala202Pro) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486276C>T | CA354407349 | GATA2 | c.322G>A (p.Ala108Thr) c.604G>A (p.Ala202Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486277G>A | CA2600041 | GATA2 | c.321C>T (p.Ala107=) c.603C>T (p.Ala201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486277G>C | CA435510313 | GATA2 | c.321C>G (p.Ala107=) c.603C>G (p.Ala201=) | dbSNP |
| 3 | g.128486277G= | CA1400719492 | GATA2 | c.321C= (p.Ala107=) c.603C= (p.Ala201=) | |
| 3 | g.128486277G>T | CA435510314 | GATA2 | c.321C>A (p.Ala107=) c.603C>A (p.Ala201=) | |
| 3 | g.128486278G>A | CA354407357 | GATA2 | c.320C>T (p.Ala107Val) c.602C>T (p.Ala201Val) | dbSNP gnomAD v4 |
| 3 | g.128486278G>C | CA354407358 | GATA2 | c.320C>G (p.Ala107Gly) c.602C>G (p.Ala201Gly) | |
| 3 | g.128486278G>T | CA354407362 | GATA2 | c.320C>A (p.Ala107Asp) c.602C>A (p.Ala201Asp) | |
| 3 | g.128486278_128486279delinsTT | CA2573136507 | GATA2 | c.319_320delinsAA (p.Ala107Asn) c.601_602delinsAA (p.Ala201Asn) | ClinVar dbSNP |
| 3 | g.128486279C>A | CA354407365 | GATA2 | c.319G>T (p.Ala107Ser) c.601G>T (p.Ala201Ser) | |
| 3 | g.128486279C>G | CA354407367 | GATA2 | c.319G>C (p.Ala107Pro) c.601G>C (p.Ala201Pro) | |
| 3 | g.128486279C>T | CA354407370 | GATA2 | c.319G>A (p.Ala107Thr) c.601G>A (p.Ala201Thr) | ClinVar dbSNP |
| 3 | g.128486280A>C | CA435510317 | GATA2 | c.318T>G (p.Ser106=) c.600T>G (p.Ser200=) | |
| 3 | g.128486280A>G | CA435510318 | GATA2 | c.318T>C (p.Ser106=) c.600T>C (p.Ser200=) | |
| 3 | g.128486280A>T | CA435510319 | GATA2 | c.318T>A (p.Ser106=) c.600T>A (p.Ser200=) | COSMIC |
| 3 | g.128486280dup | CA1139532782 | GATA2 | c.318dup (p.Ala107CysfsTer?) c.600dup (p.Ala201CysfsTer?) | ClinVar dbSNP |
| 3 | g.128486284_128486285del | CA1139532781 | GATA2 | c.317_318del (p.Ser106CysfsTer?) c.599_600del (p.Ser200CysfsTer?) | ClinVar dbSNP |
| 3 | g.128486281G>A | CA354407375 | GATA2 | c.317C>T (p.Ser106Phe) c.599C>T (p.Ser200Phe) | gnomAD v4 |
| 3 | g.128486281G>C | CA354407378 | GATA2 | c.317C>G (p.Ser106Cys) c.599C>G (p.Ser200Cys) | |
| 3 | g.128486281G>T | CA354407380 | GATA2 | c.317C>A (p.Ser106Tyr) c.599C>A (p.Ser200Tyr) | |
| 3 | g.128486282A>C | CA354407384 | GATA2 | c.316T>G (p.Ser106Ala) c.598T>G (p.Ser200Ala) | |
| 3 | g.128486282A>G | CA354407386 | GATA2 | c.316T>C (p.Ser106Pro) c.598T>C (p.Ser200Pro) | |
| 3 | g.128486282A>T | CA354407389 | GATA2 | c.316T>A (p.Ser106Thr) c.598T>A (p.Ser200Thr) | |
| 3 | g.128486283G>A | CA2600042 | GATA2 | c.315C>T (p.Leu105=) c.597C>T (p.Leu199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486283G>C | CA83372074 | GATA2 | c.315C>G (p.Leu105=) c.597C>G (p.Leu199=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486283G= | CA1400719493 | GATA2 | c.315C= (p.Leu105=) c.597C= (p.Leu199=) | |
| 3 | g.128486283G>T | CA435510321 | GATA2 | c.315C>A (p.Leu105=) c.597C>A (p.Leu199=) | gnomAD v4 |
| 3 | g.128486284A= | CA1400719494 | GATA2 | c.314T= (p.Leu105=) c.596T= (p.Leu199=) | |
| 3 | g.128486284A>C | CA354407395 | GATA2 | c.314T>G (p.Leu105Arg) c.596T>G (p.Leu199Arg) | |
| 3 | g.128486284A>G | CA354407398 | GATA2 | c.314T>C (p.Leu105Pro) c.596T>C (p.Leu199Pro) | gnomAD v4 |
| 3 | g.128486284A>T | CA354407401 | GATA2 | c.314T>A (p.Leu105His) c.596T>A (p.Leu199His) | |
| 3 | g.128486285G>A | CA354407403 | GATA2 | c.313C>T (p.Leu105Phe) c.595C>T (p.Leu199Phe) | ClinVar dbSNP |
| 3 | g.128486285G>C | CA354407406 | GATA2 | c.313C>G (p.Leu105Val) c.595C>G (p.Leu199Val) | ClinVar |
| 3 | g.128486285G>T | CA354407409 | GATA2 | c.313C>A (p.Leu105Ile) c.595C>A (p.Leu199Ile) | gnomAD v4 |
| 3 | g.128486287dup | CA658820606 | GATA2 | c.313dup (p.Leu105ProfsTer?) c.595dup (p.Leu199ProfsTer?) | |
| 3 | g.128486286_128486287dup | CA658820607 | GATA2 | c.312_313dup (p.Leu105ProfsTer15) c.594_595dup (p.Leu199ProfsTer15) | ClinVar dbSNP |
| 3 | g.128486286G>A | CA435510325 | GATA2 | c.312C>T (p.Ala104=) c.594C>T (p.Ala198=) | gnomAD v4 |
| 3 | g.128486286G>C | CA435510326 | GATA2 | c.312C>G (p.Ala104=) c.594C>G (p.Ala198=) | gnomAD v4 |
| 3 | g.128486286G= | CA1400719495 | GATA2 | c.312C= (p.Ala104=) c.594C= (p.Ala198=) | |
| 3 | g.128486286G>T | CA435510327 | GATA2 | c.312C>A (p.Ala104=) c.594C>A (p.Ala198=) | dbSNP |
| 3 | g.128486287G>A | CA2600043 | GATA2 | c.311C>T (p.Ala104Val) c.593C>T (p.Ala198Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486287G>C | CA354407414 | GATA2 | c.311C>G (p.Ala104Gly) c.593C>G (p.Ala198Gly) | |
| 3 | g.128486287G= | CA1400719496 | GATA2 | c.311C= (p.Ala104=) c.593C= (p.Ala198=) | |
| 3 | g.128486287G>T | CA354407415 | GATA2 | c.311C>A (p.Ala104Asp) c.593C>A (p.Ala198Asp) | gnomAD v4 |
| 3 | g.128486289_128486296del | CA1611067989 | GATA2 | c.304_311del (p.Lys102ProfsTer?) c.586_593del (p.Lys196ProfsTer?) | |
| 3 | g.128486288C>A | CA16611144 | GATA2 | c.310G>T (p.Ala104Ser) c.592G>T (p.Ala198Ser) | ClinVar dbSNP |
| 3 | g.128486288C= | CA1400719497 | GATA2 | c.310G= (p.Ala104=) c.592G= (p.Ala198=) | |
| 3 | g.128486288C>G | CA354407420 | GATA2 | c.310G>C (p.Ala104Pro) c.592G>C (p.Ala198Pro) | |
| 3 | g.128486288C>T | CA354407422 | GATA2 | c.310G>A (p.Ala104Thr) c.592G>A (p.Ala198Thr) | gnomAD v4 |
| 3 | g.128486289T>A | CA435510331 | GATA2 | c.309A>T (p.Ala103=) c.591A>T (p.Ala197=) | ClinVar dbSNP |
| 3 | g.128486289T>C | CA435510332 | GATA2 | c.309A>G (p.Ala103=) c.591A>G (p.Ala197=) | gnomAD v4 |
| 3 | g.128486289T>G | CA435510333 | GATA2 | c.309A>C (p.Ala103=) c.591A>C (p.Ala197=) | |
| 3 | g.128486292_128486296del | CA2740090997 | GATA2 | c.305_309del (p.Lys102SerfsTer?) c.587_591del (p.Lys196SerfsTer?) | ClinVar |
| 3 | g.128486290G>A | CA354407429 | GATA2 | c.308C>T (p.Ala103Val) c.590C>T (p.Ala197Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486290G>C | CA354407427 | GATA2 | c.308C>G (p.Ala103Gly) c.590C>G (p.Ala197Gly) | gnomAD v4 |
| 3 | g.128486290G= | CA1400719498 | GATA2 | c.308C= (p.Ala103=) c.590C= (p.Ala197=) | |
| 3 | g.128486290G>T | CA354407425 | GATA2 | c.308C>A (p.Ala103Glu) c.590C>A (p.Ala197Glu) | gnomAD v4 |
| 3 | g.128486291C>A | CA354407431 | GATA2 | c.307G>T (p.Ala103Ser) c.589G>T (p.Ala197Ser) | gnomAD v4 |
| 3 | g.128486291C= | CA1400719499 | GATA2 | c.307G= (p.Ala103=) c.589G= (p.Ala197=) | |
| 3 | g.128486291C>G | CA354407434 | GATA2 | c.307G>C (p.Ala103Pro) c.589G>C (p.Ala197Pro) | |
| 3 | g.128486291C>T | CA354407436 | GATA2 | c.307G>A (p.Ala103Thr) c.589G>A (p.Ala197Thr) | ClinVar dbSNP gnomAD v2 |
| 3 | g.128486292T>A | CA354407439 | GATA2 | c.306A>T (p.Lys102Asn) c.588A>T (p.Lys196Asn) | |
| 3 | g.128486292T>C | CA435510338 | GATA2 | c.306A>G (p.Lys102=) c.588A>G (p.Lys196=) | gnomAD v4 |
| 3 | g.128486292T>G | CA354407441 | GATA2 | c.306A>C (p.Lys102Asn) c.588A>C (p.Lys196Asn) | |
| 3 | g.128486294del | CA1139532780 | GATA2 | c.306del (p.Ala103GlnfsTer16) c.588del (p.Ala197GlnfsTer16) | ClinVar dbSNP |
| 3 | g.128486293T>A | CA354407448 | GATA2 | c.305A>T (p.Lys102Ile) c.587A>T (p.Lys196Ile) | gnomAD v4 |
| 3 | g.128486293T>C | CA354407446 | GATA2 | c.305A>G (p.Lys102Arg) c.587A>G (p.Lys196Arg) | |
| 3 | g.128486293T>G | CA354407444 | GATA2 | c.305A>C (p.Lys102Thr) c.587A>C (p.Lys196Thr) | |
| 3 | g.128486294T>A | CA354407452 | GATA2 | c.304A>T (p.Lys102Ter) c.586A>T (p.Lys196Ter) | |
| 3 | g.128486294T>C | CA354407455 | GATA2 | c.304A>G (p.Lys102Glu) c.586A>G (p.Lys196Glu) | ClinVar dbSNP |
| 3 | g.128486294T>G | CA354407456 | GATA2 | c.304A>C (p.Lys102Gln) c.586A>C (p.Lys196Gln) | |
| 3 | g.128486295del | CA1139532779 | GATA2 | c.303del (p.Ala103GlnfsTer16) c.585del (p.Ala197GlnfsTer16) | ClinVar dbSNP |
| 3 | g.128486295G>A | CA435510340 | GATA2 | c.303C>T (p.Gly101=) c.585C>T (p.Gly195=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486295G>C | CA435510341 | GATA2 | c.303C>G (p.Gly101=) c.585C>G (p.Gly195=) | gnomAD v4 |
| 3 | g.128486295G= | CA1400719500 | GATA2 | c.303C= (p.Gly101=) c.585C= (p.Gly195=) | |
| 3 | g.128486295G>T | CA435510342 | GATA2 | c.303C>A (p.Gly101=) c.585C>A (p.Gly195=) | gnomAD v4 |
| 3 | g.128486296C>A | CA354407460 | GATA2 | c.302G>T (p.Gly101Val) c.584G>T (p.Gly195Val) | gnomAD v4 |
| 3 | g.128486296C= | CA1400719501 | GATA2 | c.302G= (p.Gly101=) c.584G= (p.Gly195=) | |
| 3 | g.128486296C>G | CA354407463 | GATA2 | c.302G>C (p.Gly101Ala) c.584G>C (p.Gly195Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486296C>T | CA354407475 | GATA2 | c.302G>A (p.Gly101Asp) c.584G>A (p.Gly195Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128486300del | CA1139532778 | GATA2 | c.302del (p.Gly101AlafsTer18) c.584del (p.Gly195AlafsTer18) | ClinVar dbSNP |
| 3 | g.128486297C>A | CA354407479 | GATA2 | c.301G>T (p.Gly101Cys) c.583G>T (p.Gly195Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486297C= | CA1400719502 | GATA2 | c.301G= (p.Gly101=) c.583G= (p.Gly195=) | |
| 3 | g.128486297C>G | CA354407483 | GATA2 | c.301G>C (p.Gly101Arg) c.583G>C (p.Gly195Arg) | |
| 3 | g.128486297C>T | CA354407482 | GATA2 | c.301G>A (p.Gly101Ser) c.583G>A (p.Gly195Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486298C>A | CA435510344 | GATA2 | c.300G>T (p.Gly100=) c.582G>T (p.Gly194=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486298C= | CA1400719504 | GATA2 | c.300G= (p.Gly100=) c.582G= (p.Gly194=) | |
| 3 | g.128486298C>G | CA435510346 | GATA2 | c.300G>C (p.Gly100=) c.582G>C (p.Gly194=) | |
| 3 | g.128486298C>T | CA435510347 | GATA2 | c.300G>A (p.Gly100=) c.582G>A (p.Gly194=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486298_128486299delinsAA | CA16611182 | GATA2 | c.299_300delinsTT (p.Gly100Val) c.581_582delinsTT (p.Gly194Val) | ClinVar dbSNP |
| 3 | g.128486298_128486299delinsCC | CA1400719503 | GATA2 | c.299_300delinsGG (p.Gly100=) c.581_582delinsGG (p.Gly194=) | |
| 3 | g.128486301_128486302insAGGCCCG | CA645523652 | GATA2 | c.300_301insCCTCGGG (p.Gly101ProfsTer?) c.582_583insCCTCGGG (p.Gly195ProfsTer?) | COSMIC |
| 3 | g.128486299C>A | CA354407486 | GATA2 | c.299G>T (p.Gly100Val) c.581G>T (p.Gly194Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486299C= | CA1400719505 | GATA2 | c.299G= (p.Gly100=) c.581G= (p.Gly194=) | |
| 3 | g.128486299C>G | CA354407489 | GATA2 | c.299G>C (p.Gly100Ala) c.581G>C (p.Gly194Ala) | gnomAD v4 |
| 3 | g.128486299C>T | CA354407491 | GATA2 | c.299G>A (p.Gly100Glu) c.581G>A (p.Gly194Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486300C>A | CA354407505 | GATA2 | c.298G>T (p.Gly100Trp) c.580G>T (p.Gly194Trp) | |
| 3 | g.128486300C= | CA1400719506 | GATA2 | c.298G= (p.Gly100=) c.580G= (p.Gly194=) | |
| 3 | g.128486300C>G | CA354407506 | GATA2 | c.298G>C (p.Gly100Arg) c.580G>C (p.Gly194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486300C>T | CA354407508 | GATA2 | c.298G>A (p.Gly100Arg) c.580G>A (p.Gly194Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486301G>A | CA435510348 | GATA2 | c.297C>T (p.Asp99=) c.579C>T (p.Asp193=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486301G>C | CA354407510 | GATA2 | c.297C>G (p.Asp99Glu) c.579C>G (p.Asp193Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486301G= | CA1400719507 | GATA2 | c.297C= (p.Asp99=) c.579C= (p.Asp193=) | |
| 3 | g.128486301G>T | CA354407512 | GATA2 | c.297C>A (p.Asp99Glu) c.579C>A (p.Asp193Glu) | ClinVar gnomAD v4 |
| 3 | g.128486302T>A | CA354407514 | GATA2 | c.296A>T (p.Asp99Val) c.578A>T (p.Asp193Val) | gnomAD v4 |
| 3 | g.128486302T>C | CA2600044 | GATA2 | c.296A>G (p.Asp99Gly) c.578A>G (p.Asp193Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486302T>G | CA354407517 | GATA2 | c.296A>C (p.Asp99Ala) c.578A>C (p.Asp193Ala) | |
| 3 | g.128486302T= | CA1400719508 | GATA2 | c.296A= (p.Asp99=) c.578A= (p.Asp193=) | |
| 3 | g.128486303C>A | CA2600045 | GATA2 | c.295G>T (p.Asp99Tyr) c.577G>T (p.Asp193Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486303C= | CA1400719509 | GATA2 | c.295G= (p.Asp99=) c.577G= (p.Asp193=) | |
| 3 | g.128486303C>G | CA354407522 | GATA2 | c.295G>C (p.Asp99His) c.577G>C (p.Asp193His) | |
| 3 | g.128486303C>T | CA354407518 | GATA2 | c.295G>A (p.Asp99Asn) c.577G>A (p.Asp193Asn) | |
| 3 | g.128486304C>A | CA435510349 | GATA2 | c.294G>T (p.Leu98=) c.576G>T (p.Leu192=) | gnomAD v4 |
| 3 | g.128486304C>G | CA435510350 | GATA2 | c.294G>C (p.Leu98=) c.576G>C (p.Leu192=) | |
| 3 | g.128486304C>T | CA435510351 | GATA2 | c.294G>A (p.Leu98=) c.576G>A (p.Leu192=) | gnomAD v4 |
| 3 | g.128486305A>C | CA354407525 | GATA2 | c.293T>G (p.Leu98Arg) c.575T>G (p.Leu192Arg) | |
| 3 | g.128486305A>G | CA354407529 | GATA2 | c.293T>C (p.Leu98Pro) c.575T>C (p.Leu192Pro) | |
| 3 | g.128486305A>T | CA354407526 | GATA2 | c.293T>A (p.Leu98Gln) c.575T>A (p.Leu192Gln) | |
| 3 | g.128486306G>A | CA435510352 | GATA2 | c.292C>T (p.Leu98=) c.574C>T (p.Leu192=) | gnomAD v4 |
| 3 | g.128486306G>C | CA354407531 | GATA2 | c.292C>G (p.Leu98Val) c.574C>G (p.Leu192Val) | |
| 3 | g.128486306G>T | CA354407534 | GATA2 | c.292C>A (p.Leu98Met) c.574C>A (p.Leu192Met) | gnomAD v4 |
| 3 | g.128486307C>A | CA354407535 | GATA2 | c.291G>T (p.Trp97Cys) c.573G>T (p.Trp191Cys) | gnomAD v4 |
| 3 | g.128486307C>G | CA354407539 | GATA2 | c.291G>C (p.Trp97Cys) c.573G>C (p.Trp191Cys) | |
| 3 | g.128486307C>T | CA354407537 | GATA2 | c.291G>A (p.Trp97Ter) c.573G>A (p.Trp191Ter) | |
| 3 | g.128486308C>A | CA354407541 | GATA2 | c.290G>T (p.Trp97Leu) c.572G>T (p.Trp191Leu) | |
| 3 | g.128486308C>G | CA354407543 | GATA2 | c.290G>C (p.Trp97Ser) c.572G>C (p.Trp191Ser) | |
| 3 | g.128486308C>T | CA354407544 | GATA2 | c.290G>A (p.Trp97Ter) c.572G>A (p.Trp191Ter) | |
| 3 | g.128486309A= | CA1400719510 | GATA2 | c.289T= (p.Trp97=) c.571T= (p.Trp191=) | |
| 3 | g.128486309A>C | CA354407546 | GATA2 | c.289T>G (p.Trp97Gly) c.571T>G (p.Trp191Gly) | |
| 3 | g.128486309A>G | CA354407548 | GATA2 | c.289T>C (p.Trp97Arg) c.571T>C (p.Trp191Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486309A>T | CA354407551 | GATA2 | c.289T>A (p.Trp97Arg) c.571T>A (p.Trp191Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486309_128486310del | CA2580068754 | GATA2 | c.288_289del (p.Trp97AlafsTer?) c.570_571del (p.Trp191AlafsTer?) | ClinVar |
| 3 | g.128486310G>A | CA435510353 | GATA2 | c.288C>T (p.Pro96=) c.570C>T (p.Pro190=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.128486310G>C | CA435510354 | GATA2 | c.288C>G (p.Pro96=) c.570C>G (p.Pro190=) | |
| 3 | g.128486310G= | CA1400719511 | GATA2 | c.288C= (p.Pro96=) c.570C= (p.Pro190=) | |
| 3 | g.128486310G>T | CA435510355 | GATA2 | c.288C>A (p.Pro96=) c.570C>A (p.Pro190=) | gnomAD v4 |
| 3 | g.128486311G>A | CA354407557 | GATA2 | c.287C>T (p.Pro96Leu) c.569C>T (p.Pro190Leu) | gnomAD v4 |
| 3 | g.128486311G>C | CA354407553 | GATA2 | c.287C>G (p.Pro96Arg) c.569C>G (p.Pro190Arg) | |
| 3 | g.128486311G>T | CA354407554 | GATA2 | c.287C>A (p.Pro96His) c.569C>A (p.Pro190His) | gnomAD v4 |
| 3 | g.128486312G>A | CA83372083 | GATA2 | c.286C>T (p.Pro96Ser) c.568C>T (p.Pro190Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486312G>C | CA354407560 | GATA2 | c.286C>G (p.Pro96Ala) c.568C>G (p.Pro190Ala) | |
| 3 | g.128486312G= | CA1400719512 | GATA2 | c.286C= (p.Pro96=) c.568C= (p.Pro190=) | |
| 3 | g.128486312G>T | CA354407571 | GATA2 | c.286C>A (p.Pro96Thr) c.568C>A (p.Pro190Thr) | gnomAD v4 |
| 3 | g.128486313C>A | CA354407576 | GATA2 | c.285G>T (p.Leu95Phe) c.567G>T (p.Leu189Phe) | gnomAD v4 |
| 3 | g.128486313C>G | CA354407578 | GATA2 | c.285G>C (p.Leu95Phe) c.567G>C (p.Leu189Phe) | |
| 3 | g.128486313C>T | CA435510356 | GATA2 | c.285G>A (p.Leu95=) c.567G>A (p.Leu189=) | gnomAD v4 |
| 3 | g.128486314A>C | CA354407581 | GATA2 | c.284T>G (p.Leu95Trp) c.566T>G (p.Leu189Trp) | |
| 3 | g.128486314A>G | CA354407583 | GATA2 | c.284T>C (p.Leu95Ser) c.566T>C (p.Leu189Ser) | |
| 3 | g.128486314A>T | CA354407582 | GATA2 | c.284T>A (p.Leu95Ter) c.566T>A (p.Leu189Ter) | |
| 3 | g.128486315A>C | CA354407584 | GATA2 | c.283T>G (p.Leu95Val) c.565T>G (p.Leu189Val) | ClinVar |
| 3 | g.128486315A>G | CA435510357 | GATA2 | c.283T>C (p.Leu95=) c.565T>C (p.Leu189=) | |
| 3 | g.128486315A>T | CA354407585 | GATA2 | c.283T>A (p.Leu95Met) c.565T>A (p.Leu189Met) | |
| 3 | g.128486316A>C | CA435510358 | GATA2 | c.282T>G (p.Gly94=) c.564T>G (p.Gly188=) | |
| 3 | g.128486316A>G | CA435510359 | GATA2 | c.282T>C (p.Gly94=) c.564T>C (p.Gly188=) | |
| 3 | g.128486316A>T | CA435510360 | GATA2 | c.282T>A (p.Gly94=) c.564T>A (p.Gly188=) | |
| 3 | g.128486317C>A | CA354407593 | GATA2 | c.281G>T (p.Gly94Val) c.563G>T (p.Gly188Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486317C= | CA1400719513 | GATA2 | c.281G= (p.Gly94=) c.563G= (p.Gly188=) | |
| 3 | g.128486317C>G | CA354407597 | GATA2 | c.281G>C (p.Gly94Ala) c.563G>C (p.Gly188Ala) | |
| 3 | g.128486317C>T | CA354407600 | GATA2 | c.281G>A (p.Gly94Asp) c.563G>A (p.Gly188Asp) | |
| 3 | g.128486319del | CA1139768889 | GATA2 | c.281del (p.Gly94ValfsTer25) c.563del (p.Gly188ValfsTer25) | |
| 3 | g.128486318C>A | CA354407609 | GATA2 | c.280G>T (p.Gly94Cys) c.562G>T (p.Gly188Cys) | gnomAD v4 |
| 3 | g.128486318C= | CA1400719514 | GATA2 | c.280G= (p.Gly94=) c.562G= (p.Gly188=) | |
| 3 | g.128486318C>G | CA354407611 | GATA2 | c.280G>C (p.Gly94Arg) c.562G>C (p.Gly188Arg) | |
| 3 | g.128486318C>T | CA354407614 | GATA2 | c.280G>A (p.Gly94Ser) c.562G>A (p.Gly188Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486319C>A | CA2600048 | GATA2 | c.279G>T (p.Pro93=) c.561G>T (p.Pro187=) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.128486319C= | CA1400719515 | GATA2 | c.279G= (p.Pro93=) c.561G= (p.Pro187=) | |
| 3 | g.128486319C>G | CA2600047 | GATA2 | c.279G>C (p.Pro93=) c.561G>C (p.Pro187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486319C>T | CA2600046 | GATA2 | c.279G>A (p.Pro93=) c.561G>A (p.Pro187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486320G>A | CA354407620 | GATA2 | c.278C>T (p.Pro93Leu) c.560C>T (p.Pro187Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486320G>C | CA354407624 | GATA2 | c.278C>G (p.Pro93Arg) c.560C>G (p.Pro187Arg) | gnomAD v4 |
| 3 | g.128486320G= | CA1400719516 | GATA2 | c.278C= (p.Pro93=) c.560C= (p.Pro187=) | |
| 3 | g.128486320G>T | CA354407621 | GATA2 | c.278C>A (p.Pro93Gln) c.560C>A (p.Pro187Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486321G>A | CA354407628 | GATA2 | c.277C>T (p.Pro93Ser) c.559C>T (p.Pro187Ser) | ClinVar |
| 3 | g.128486321G>C | CA354407629 | GATA2 | c.277C>G (p.Pro93Ala) c.559C>G (p.Pro187Ala) | |
| 3 | g.128486321G>T | CA354407630 | GATA2 | c.277C>A (p.Pro93Thr) c.559C>A (p.Pro187Thr) | |
| 3 | g.128486322G>A | CA435510361 | GATA2 | c.276C>T (p.Ser92=) c.558C>T (p.Ser186=) | |
| 3 | g.128486322G>C | CA354407631 | GATA2 | c.276C>G (p.Ser92Arg) c.558C>G (p.Ser186Arg) | |
| 3 | g.128486322G>T | CA354407632 | GATA2 | c.276C>A (p.Ser92Arg) c.558C>A (p.Ser186Arg) | gnomAD v4 COSMIC |
| 3 | g.128486323C>A | CA354407633 | GATA2 | c.275G>T (p.Ser92Ile) c.557G>T (p.Ser186Ile) | gnomAD v4 |
| 3 | g.128486323C= | CA1400719517 | GATA2 | c.275G= (p.Ser92=) c.557G= (p.Ser186=) | |
| 3 | g.128486323C>G | CA354407636 | GATA2 | c.275G>C (p.Ser92Thr) c.557G>C (p.Ser186Thr) | gnomAD v4 |
| 3 | g.128486323C>T | CA2600049 | GATA2 | c.275G>A (p.Ser92Asn) c.557G>A (p.Ser186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486324T>A | CA354407643 | GATA2 | c.274A>T (p.Ser92Cys) c.556A>T (p.Ser186Cys) | |
| 3 | g.128486324T>C | CA354407646 | GATA2 | c.274A>G (p.Ser92Gly) c.556A>G (p.Ser186Gly) | |
| 3 | g.128486324T>G | CA354407648 | GATA2 | c.274A>C (p.Ser92Arg) c.556A>C (p.Ser186Arg) | |
| 3 | g.128486325G>A | CA435510362 | GATA2 | c.273C>T (p.His91=) c.555C>T (p.His185=) | ClinVar gnomAD v4 |
| 3 | g.128486325G>C | CA354407652 | GATA2 | c.273C>G (p.His91Gln) c.555C>G (p.His185Gln) | gnomAD v4 |
| 3 | g.128486325G>T | CA354407659 | GATA2 | c.273C>A (p.His91Gln) c.555C>A (p.His185Gln) | |
| 3 | g.128486326T>A | CA354407673 | GATA2 | c.272A>T (p.His91Leu) c.554A>T (p.His185Leu) | |
| 3 | g.128486326T>C | CA354407678 | GATA2 | c.272A>G (p.His91Arg) c.554A>G (p.His185Arg) | gnomAD v4 |
| 3 | g.128486326T>G | CA354407675 | GATA2 | c.272A>C (p.His91Pro) c.554A>C (p.His185Pro) | |
| 3 | g.128486327G>A | CA354407690 | GATA2 | c.271C>T (p.His91Tyr) c.553C>T (p.His185Tyr) | gnomAD v4 |
| 3 | g.128486327G>C | CA354407693 | GATA2 | c.271C>G (p.His91Asp) c.553C>G (p.His185Asp) | |
| 3 | g.128486327G>T | CA354407695 | GATA2 | c.271C>A (p.His91Asn) c.553C>A (p.His185Asn) | gnomAD v4 |
| 3 | g.128486328C>A | CA354407698 | GATA2 | c.270G>T (p.Leu90Phe) c.552G>T (p.Leu184Phe) | gnomAD v4 |
| 3 | g.128486328C>G | CA354407705 | GATA2 | c.270G>C (p.Leu90Phe) c.552G>C (p.Leu184Phe) | |
| 3 | g.128486328C>T | CA435510364 | GATA2 | c.270G>A (p.Leu90=) c.552G>A (p.Leu184=) | gnomAD v4 |
| 3 | g.128486329A>C | CA354407708 | GATA2 | c.269T>G (p.Leu90Trp) c.551T>G (p.Leu184Trp) | |
| 3 | g.128486329A>G | CA354407709 | GATA2 | c.269T>C (p.Leu90Ser) c.551T>C (p.Leu184Ser) | gnomAD v4 |
| 3 | g.128486329A>T | CA354407711 | GATA2 | c.269T>A (p.Leu90Ter) c.551T>A (p.Leu184Ter) | |
| 3 | g.128486330A= | CA1400719518 | GATA2 | c.268T= (p.Leu90=) c.550T= (p.Leu184=) | |
| 3 | g.128486330A>C | CA354407716 | GATA2 | c.268T>G (p.Leu90Val) c.550T>G (p.Leu184Val) | ClinVar |
| 3 | g.128486330A>G | CA435510365 | GATA2 | c.268T>C (p.Leu90=) c.550T>C (p.Leu184=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486330A>T | CA354407720 | GATA2 | c.268T>A (p.Leu90Met) c.550T>A (p.Leu184Met) | gnomAD v4 |
| 3 | g.128486331C>A | CA354407726 | GATA2 | c.267G>T (p.Leu89Phe) c.549G>T (p.Leu183Phe) | |
| 3 | g.128486331C= | CA1400719519 | GATA2 | c.267G= (p.Leu89=) c.549G= (p.Leu183=) | |
| 3 | g.128486331C>G | CA354407731 | GATA2 | c.267G>C (p.Leu89Phe) c.549G>C (p.Leu183Phe) | |
| 3 | g.128486331C>T | CA435510366 | GATA2 | c.267G>A (p.Leu89=) c.549G>A (p.Leu183=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486332A>C | CA354407733 | GATA2 | c.266T>G (p.Leu89Trp) c.548T>G (p.Leu183Trp) | |
| 3 | g.128486332A>G | CA354407753 | GATA2 | c.266T>C (p.Leu89Ser) c.548T>C (p.Leu183Ser) | |
| 3 | g.128486332A>T | CA354407746 | GATA2 | c.266T>A (p.Leu89Ter) c.548T>A (p.Leu183Ter) | |
| 3 | g.128486333A= | CA1400719520 | GATA2 | c.265T= (p.Leu89=) c.547T= (p.Leu183=) | |
| 3 | g.128486333A>C | CA354407757 | GATA2 | c.265T>G (p.Leu89Val) c.547T>G (p.Leu183Val) | |
| 3 | g.128486333A>G | CA2600050 | GATA2 | c.265T>C (p.Leu89=) c.547T>C (p.Leu183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486333A>T | CA354407768 | GATA2 | c.265T>A (p.Leu89Met) c.547T>A (p.Leu183Met) | |
| 3 | g.128486334G>A | CA435510367 | GATA2 | c.264C>T (p.His88=) c.546C>T (p.His182=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486334G>C | CA354407770 | GATA2 | c.264C>G (p.His88Gln) c.546C>G (p.His182Gln) | |
| 3 | g.128486334G= | CA1400719521 | GATA2 | c.264C= (p.His88=) c.546C= (p.His182=) | |
| 3 | g.128486334G>T | CA354407771 | GATA2 | c.264C>A (p.His88Gln) c.546C>A (p.His182Gln) | gnomAD v4 |
| 3 | g.128486335T>A | CA354407772 | GATA2 | c.263A>T (p.His88Leu) c.545A>T (p.His182Leu) | |
| 3 | g.128486335T>C | CA354407773 | GATA2 | c.263A>G (p.His88Arg) c.545A>G (p.His182Arg) | gnomAD v4 |
| 3 | g.128486335T>G | CA354407777 | GATA2 | c.263A>C (p.His88Pro) c.545A>C (p.His182Pro) | |
| 3 | g.128486336G>A | CA354407779 | GATA2 | c.262C>T (p.His88Tyr) c.544C>T (p.His182Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486336G>C | CA354407784 | GATA2 | c.262C>G (p.His88Asp) c.544C>G (p.His182Asp) | |
| 3 | g.128486336G= | CA1400719522 | GATA2 | c.262C= (p.His88=) c.544C= (p.His182=) | |
| 3 | g.128486336G>T | CA354407785 | GATA2 | c.262C>A (p.His88Asn) c.544C>A (p.His182Asn) | gnomAD v4 |
| 3 | g.128486337T>A | CA435510368 | GATA2 | c.261A>T (p.Pro87=) c.543A>T (p.Pro181=) | |
| 3 | g.128486337T>C | CA435510369 | GATA2 | c.261A>G (p.Pro87=) c.543A>G (p.Pro181=) | |
| 3 | g.128486337T>G | CA435510370 | GATA2 | c.261A>C (p.Pro87=) c.543A>C (p.Pro181=) | |
| 3 | g.128486338G>A | CA354407789 | GATA2 | c.260C>T (p.Pro87Leu) c.542C>T (p.Pro181Leu) | gnomAD v4 |
| 3 | g.128486338G>C | CA354407787 | GATA2 | c.260C>G (p.Pro87Arg) c.542C>G (p.Pro181Arg) | COSMIC |
| 3 | g.128486338G>T | CA354407786 | GATA2 | c.260C>A (p.Pro87Gln) c.542C>A (p.Pro181Gln) | gnomAD v4 |
| 3 | g.128486339G>A | CA354407792 | GATA2 | c.259C>T (p.Pro87Ser) c.541C>T (p.Pro181Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486339G>C | CA354407795 | GATA2 | c.259C>G (p.Pro87Ala) c.541C>G (p.Pro181Ala) | |
| 3 | g.128486339G= | CA1400719523 | GATA2 | c.259C= (p.Pro87=) c.541C= (p.Pro181=) | |
| 3 | g.128486339G>T | CA354407797 | GATA2 | c.259C>A (p.Pro87Thr) c.541C>A (p.Pro181Thr) | gnomAD v4 |
| 3 | g.128486340G>A | CA435510371 | GATA2 | c.258C>T (p.Arg86=) c.540C>T (p.Arg180=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486340G>C | CA435510372 | GATA2 | c.258C>G (p.Arg86=) c.540C>G (p.Arg180=) | gnomAD v4 |
| 3 | g.128486340G= | CA1400719524 | GATA2 | c.258C= (p.Arg86=) c.540C= (p.Arg180=) | |
| 3 | g.128486340G>T | CA435510373 | GATA2 | c.258C>A (p.Arg86=) c.540C>A (p.Arg180=) | dbSNP gnomAD v4 |
| 3 | g.128486341_128486342del | CA1139532776 | GATA2 | c.257_258del (p.Arg86ProfsTer?) c.539_540del (p.Arg180ProfsTer?) | ClinVar dbSNP |
| 3 | g.128486341C>A | CA354407801 | GATA2 | c.257G>T (p.Arg86Leu) c.539G>T (p.Arg180Leu) | gnomAD v4 |
| 3 | g.128486341C= | CA1400719525 | GATA2 | c.257G= (p.Arg86=) c.539G= (p.Arg180=) | |
| 3 | g.128486341C>G | CA354407803 | GATA2 | c.257G>C (p.Arg86Pro) c.539G>C (p.Arg180Pro) | |
| 3 | g.128486341C>T | CA354407806 | GATA2 | c.257G>A (p.Arg86His) c.539G>A (p.Arg180His) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486342G>A | CA83372090 | GATA2 | c.256C>T (p.Arg86Cys) c.538C>T (p.Arg180Cys) | dbSNP gnomAD v4 |
| 3 | g.128486342G>C | CA354407807 | GATA2 | c.256C>G (p.Arg86Gly) c.538C>G (p.Arg180Gly) | |
| 3 | g.128486342G= | CA1400719526 | GATA2 | c.256C= (p.Arg86=) c.538C= (p.Arg180=) | |
| 3 | g.128486342G>T | CA354407808 | GATA2 | c.256C>A (p.Arg86Ser) c.538C>A (p.Arg180Ser) | gnomAD v4 |
| 3 | g.128486343del | CA1139532777 | GATA2 | c.256del (p.Arg86AlafsTer?) c.538del (p.Arg180AlafsTer?) | ClinVar dbSNP |
| 3 | g.128486343G>A | CA435510375 | GATA2 | c.255C>T (p.Cys85=) c.537C>T (p.Cys179=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486343G>C | CA354407809 | GATA2 | c.255C>G (p.Cys85Trp) c.537C>G (p.Cys179Trp) | |
| 3 | g.128486343G= | CA1400719527 | GATA2 | c.255C= (p.Cys85=) c.537C= (p.Cys179=) | |
| 3 | g.128486343G>T | CA354407810 | GATA2 | c.255C>A (p.Cys85Ter) c.537C>A (p.Cys179Ter) | gnomAD v4 |
| 3 | g.128486344C>A | CA354407818 | GATA2 | c.254G>T (p.Cys85Phe) c.536G>T (p.Cys179Phe) | |
| 3 | g.128486344C>G | CA354407816 | GATA2 | c.254G>C (p.Cys85Ser) c.536G>C (p.Cys179Ser) | |
| 3 | g.128486344C>T | CA354407813 | GATA2 | c.254G>A (p.Cys85Tyr) c.536G>A (p.Cys179Tyr) | ClinVar |
| 3 | g.128486345A>C | CA354407821 | GATA2 | c.253T>G (p.Cys85Gly) c.535T>G (p.Cys179Gly) | |
| 3 | g.128486345A>G | CA354407828 | GATA2 | c.253T>C (p.Cys85Arg) c.535T>C (p.Cys179Arg) | ClinVar |
| 3 | g.128486345A>T | CA354407829 | GATA2 | c.253T>A (p.Cys85Ser) c.535T>A (p.Cys179Ser) | |
| 3 | g.128486346C>A | CA354407834 | GATA2 | c.252G>T (p.Met84Ile) c.534G>T (p.Met178Ile) | gnomAD v4 |
| 3 | g.128486346C>G | CA354407835 | GATA2 | c.252G>C (p.Met84Ile) c.534G>C (p.Met178Ile) | |
| 3 | g.128486346C>T | CA354407839 | GATA2 | c.252G>A (p.Met84Ile) c.534G>A (p.Met178Ile) | gnomAD v4 |
| 3 | g.128486347A>C | CA354407843 | GATA2 | c.251T>G (p.Met84Arg) c.533T>G (p.Met178Arg) | |
| 3 | g.128486347A>G | CA354407844 | GATA2 | c.251T>C (p.Met84Thr) c.533T>C (p.Met178Thr) | |
| 3 | g.128486347A>T | CA354407846 | GATA2 | c.251T>A (p.Met84Lys) c.533T>A (p.Met178Lys) | |
| 3 | g.128486348T>A | CA354407848 | GATA2 | c.250A>T (p.Met84Leu) c.532A>T (p.Met178Leu) | gnomAD v4 |
| 3 | g.128486348T>C | CA354407854 | GATA2 | c.250A>G (p.Met84Val) c.532A>G (p.Met178Val) | gnomAD v4 |
| 3 | g.128486348T>G | CA354407857 | GATA2 | c.250A>C (p.Met84Leu) c.532A>C (p.Met178Leu) | |
| 3 | g.128486349C>A | CA354407860 | GATA2 | c.249G>T (p.Gln83His) c.531G>T (p.Gln177His) | dbSNP gnomAD v4 |
| 3 | g.128486349C= | CA1400719528 | GATA2 | c.249G= (p.Gln83=) c.531G= (p.Gln177=) | |
| 3 | g.128486349C>G | CA354407859 | GATA2 | c.249G>C (p.Gln83His) c.531G>C (p.Gln177His) | gnomAD v4 |
| 3 | g.128486349C>T | CA435510376 | GATA2 | c.249G>A (p.Gln83=) c.531G>A (p.Gln177=) | |
| 3 | g.128486350del | CA2586972847 | GATA2 | c.248del (p.Gln83ArgfsTer?) c.530del (p.Gln177ArgfsTer?) | |
| 3 | g.128486350T>A | CA354407868 | GATA2 | c.248A>T (p.Gln83Leu) c.530A>T (p.Gln177Leu) | gnomAD v4 |
| 3 | g.128486350T>C | CA354407870 | GATA2 | c.248A>G (p.Gln83Arg) c.530A>G (p.Gln177Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486350T>G | CA354407872 | GATA2 | c.248A>C (p.Gln83Pro) c.530A>C (p.Gln177Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486350T= | CA1400719529 | GATA2 | c.248A= (p.Gln83=) c.530A= (p.Gln177=) | |
| 3 | g.128486351G>A | CA354407875 | GATA2 | c.247C>T (p.Gln83Ter) c.529C>T (p.Gln177Ter) | gnomAD v4 |
| 3 | g.128486351G>C | CA354407878 | GATA2 | c.247C>G (p.Gln83Glu) c.529C>G (p.Gln177Glu) | |
| 3 | g.128486351G>T | CA354407880 | GATA2 | c.247C>A (p.Gln83Lys) c.529C>A (p.Gln177Lys) | gnomAD v4 |
| 3 | g.128486352G>A | CA435510377 | GATA2 | c.246C>T (p.Gly82=) c.528C>T (p.Gly176=) | ClinVar gnomAD v4 |
| 3 | g.128486352G>C | CA435510378 | GATA2 | c.246C>G (p.Gly82=) c.528C>G (p.Gly176=) | |
| 3 | g.128486352G>T | CA435510379 | GATA2 | c.246C>A (p.Gly82=) c.528C>A (p.Gly176=) | gnomAD v4 |
| 3 | g.128486352_128486354del | CA2586972848 | GATA2 | c.244_246del (p.Gly82del) c.526_528del (p.Gly176del) | |
| 3 | g.128486353C>A | CA354407883 | GATA2 | c.245G>T (p.Gly82Val) c.527G>T (p.Gly176Val) | ClinVar gnomAD v4 |
| 3 | g.128486353C= | CA1400719530 | GATA2 | c.245G= (p.Gly82=) c.527G= (p.Gly176=) | |
| 3 | g.128486353C>G | CA354407886 | GATA2 | c.245G>C (p.Gly82Ala) c.527G>C (p.Gly176Ala) | |
| 3 | g.128486353C>T | CA354407888 | GATA2 | c.245G>A (p.Gly82Asp) c.527G>A (p.Gly176Asp) | dbSNP gnomAD v4 |
| 3 | g.128486354C>A | CA354407891 | GATA2 | c.244G>T (p.Gly82Cys) c.526G>T (p.Gly176Cys) | gnomAD v4 |
| 3 | g.128486354C= | CA1400719531 | GATA2 | c.244G= (p.Gly82=) c.526G= (p.Gly176=) | |
| 3 | g.128486354C>G | CA354407894 | GATA2 | c.244G>C (p.Gly82Arg) c.526G>C (p.Gly176Arg) | |
| 3 | g.128486354C>T | CA354407897 | GATA2 | c.244G>A (p.Gly82Ser) c.526G>A (p.Gly176Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486354_128486355delinsCT | CA1400719532 | GATA2 | c.243_244delinsAG (p.Gly81=) c.525_526delinsAG (p.Gly175=) | |
| 3 | g.128486355T>A | CA435510381 | GATA2 | c.243A>T (p.Gly81=) c.525A>T (p.Gly175=) | |
| 3 | g.128486355T>C | CA435510382 | GATA2 | c.243A>G (p.Gly81=) c.525A>G (p.Gly175=) | gnomAD v4 |
| 3 | g.128486355T>G | CA435510383 | GATA2 | c.243A>C (p.Gly81=) c.525A>C (p.Gly175=) | |
| 3 | g.128486355delinsGC | CA358694 | GATA2 | c.243delinsGC (p.Gly82ArgfsTer?) c.525delinsGC (p.Gly176ArgfsTer?) | ClinVar dbSNP |
| 3 | g.128486356C>A | CA354407909 | GATA2 | c.242G>T (p.Gly81Val) c.524G>T (p.Gly175Val) | gnomAD v4 |
| 3 | g.128486356C= | CA1400719533 | GATA2 | c.242G= (p.Gly81=) c.524G= (p.Gly175=) | |
| 3 | g.128486356C>G | CA16611184 | GATA2 | c.242G>C (p.Gly81Ala) c.524G>C (p.Gly175Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486356C>T | CA354407906 | GATA2 | c.242G>A (p.Gly81Glu) c.524G>A (p.Gly175Glu) | gnomAD v4 |
| 3 | g.128486357C>A | CA354407918 | GATA2 | c.241G>T (p.Gly81Ter) c.523G>T (p.Gly175Ter) | gnomAD v4 |
| 3 | g.128486357C= | CA1400719534 | GATA2 | c.241G= (p.Gly81=) c.523G= (p.Gly175=) | |
| 3 | g.128486357C>G | CA354407915 | GATA2 | c.241G>C (p.Gly81Arg) c.523G>C (p.Gly175Arg) | dbSNP gnomAD v4 |
| 3 | g.128486357C>T | CA83372097 | GATA2 | c.241G>A (p.Gly81Arg) c.523G>A (p.Gly175Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486358G>A | CA83372100 | GATA2 | c.240C>T (p.Thr80=) c.522C>T (p.Thr174=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128486358G>C | CA435510384 | GATA2 | c.240C>G (p.Thr80=) c.522C>G (p.Thr174=) | dbSNP |
| 3 | g.128486358G= | CA1400719535 | GATA2 | c.240C= (p.Thr80=) c.522C= (p.Thr174=) | |
| 3 | g.128486358G>T | CA435510385 | GATA2 | c.240C>A (p.Thr80=) c.522C>A (p.Thr174=) | gnomAD v4 |
| 3 | g.128486359dup | CA645523653 | GATA2 | c.240dup (p.Gly81ArgfsTer?) c.522dup (p.Gly175ArgfsTer?) | COSMIC |
| 3 | g.128486359G>A | CA354407925 | GATA2 | c.239C>T (p.Thr80Ile) c.521C>T (p.Thr174Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486359G>C | CA354407932 | GATA2 | c.239C>G (p.Thr80Ser) c.521C>G (p.Thr174Ser) | gnomAD v4 |
| 3 | g.128486359G= | CA1400719536 | GATA2 | c.239C= (p.Thr80=) c.521C= (p.Thr174=) | |
| 3 | g.128486359G>T | CA354407934 | GATA2 | c.239C>A (p.Thr80Asn) c.521C>A (p.Thr174Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486360T>A | CA354407939 | GATA2 | c.238A>T (p.Thr80Ser) c.520A>T (p.Thr174Ser) | |
| 3 | g.128486360T>C | CA354407940 | GATA2 | c.238A>G (p.Thr80Ala) c.520A>G (p.Thr174Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486360T>G | CA354407946 | GATA2 | c.238A>C (p.Thr80Pro) c.520A>C (p.Thr174Pro) | gnomAD v4 |
| 3 | g.128486360T= | CA1400719537 | GATA2 | c.238A= (p.Thr80=) c.520A= (p.Thr174=) | |
| 3 | g.128486361C>A | CA435510386 | GATA2 | c.237G>T (p.Leu79=) c.519G>T (p.Leu173=) | gnomAD v4 |
| 3 | g.128486361C>G | CA435510387 | GATA2 | c.237G>C (p.Leu79=) c.519G>C (p.Leu173=) | dbSNP |
| 3 | g.128486361C>T | CA435510388 | GATA2 | c.237G>A (p.Leu79=) c.519G>A (p.Leu173=) | gnomAD v4 COSMIC |
| 3 | g.128486362A>C | CA354407953 | GATA2 | c.236T>G (p.Leu79Arg) c.518T>G (p.Leu173Arg) | |
| 3 | g.128486362A>G | CA354407956 | GATA2 | c.236T>C (p.Leu79Pro) c.518T>C (p.Leu173Pro) | ClinVar gnomAD v4 |
| 3 | g.128486362A>T | CA354407958 | GATA2 | c.236T>A (p.Leu79Gln) c.518T>A (p.Leu173Gln) | gnomAD v4 |