| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 3 | g.128481009C>A | CA2667540261 | GATA2 | c.*10G>T (n.*10G>T) c.428G>T (p.Trp143Leu) n.570G>T | gnomAD v4 |
| 3 | g.128481009C>T | CA2667540262 | GATA2 | c.*10G>A (n.*10G>A) c.428G>A (p.Trp143Ter) n.570G>A | gnomAD v4 |
| 3 | g.128481010A= | CA1400713647 | GATA2 | c.*9T= (n.*9T=) c.427T= (p.Trp143=) n.569T= | |
| 3 | g.128481010A>G | CA83376165 | GATA2 | c.*9T>C (n.*9T>C) c.427T>C (p.Trp143Arg) n.569T>C | dbSNP |
| 3 | g.128481010A>T | CA1400713648 | GATA2 | c.*9T>A (n.*9T>A) c.427T>A (p.Trp143Arg) n.569T>A | dbSNP gnomAD v4 |
| 3 | g.128481011T>C | CA2667540263 | GATA2 | c.*8A>G (n.*8A>G) c.426A>G (p.Arg142=) n.568A>G | gnomAD v4 |
| 3 | g.128481014G>A | CA2667540264 | GATA2 | c.*5C>T (n.*5C>T) c.423C>T (p.Asn141=) n.565C>T | gnomAD v4 |
| 3 | g.128481016T>C | CA83376167 | GATA2 | c.*3A>G (n.*3A>G) c.421A>G (p.Asn141Asp) n.563A>G | dbSNP |
| 3 | g.128481016T= | CA1400713651 | GATA2 | c.*3A= (n.*3A=) c.421A= (p.Asn141=) n.563A= | |
| 3 | g.128481017C>A | CA898646316 | GATA2 | c.*2G>T (n.*2G>T) c.420G>T (p.Gly140=) n.562G>T | dbSNP gnomAD v4 |
| 3 | g.128481017C= | CA1400713654 | GATA2 | c.*2G= (n.*2G=) c.420G= (p.Gly140=) n.562G= | |
| 3 | g.128481017C>T | CA2599771 | GATA2 | c.*2G>A (n.*2G>A) c.420G>A (p.Gly140=) n.562G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481018C= | CA1400713658 | GATA2 | c.*1G= (n.*1G=) c.419G= (p.Gly140=) n.561G= | |
| 3 | g.128481018C>T | CA546105441 | GATA2 | c.*1G>A (n.*1G>A) c.419G>A (p.Gly140Glu) n.561G>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481019C>A | CA354412356 | GATA2 | c.1443G>T (p.Ter481Tyr) c.1725G>T (p.Ter575Tyr) c.418G>T (p.Gly140Trp) c.1401G>T (p.Ter467Tyr) n.560G>T | COSMIC |
| 3 | g.128481019C>G | CA354412358 | GATA2 | c.1443G>C (p.Ter481Tyr) c.1725G>C (p.Ter575Tyr) c.418G>C (p.Gly140Arg) c.1401G>C (p.Ter467Tyr) n.560G>C | |
| 3 | g.128481019C>T | CA435524201 | GATA2 | c.1443G>A (p.Ter481=) c.1725G>A (p.Ter575=) c.418G>A (p.Gly140Arg) c.1401G>A (p.Ter467=) n.560G>A | |
| 3 | g.128481020T>A | CA354412360 | GATA2 | c.1442A>T (p.Ter481Leu) c.1724A>T (p.Ter575Leu) c.417A>T (p.Leu139=) c.1400A>T (p.Ter467Leu) n.559A>T | |
| 3 | g.128481020T>C | CA354412361 | GATA2 | c.1442A>G (p.Ter481Trp) c.1724A>G (p.Ter575Trp) c.417A>G (p.Leu139=) c.1400A>G (p.Ter467Trp) n.559A>G | ClinVar |
| 3 | g.128481020T>G | CA354412362 | GATA2 | c.1442A>C (p.Ter481Ser) c.1724A>C (p.Ter575Ser) c.417A>C (p.Leu139=) c.1400A>C (p.Ter467Ser) n.559A>C | |
| 3 | g.128481021A>C | CA354412366 | GATA2 | c.1441T>G (p.Ter481Glu) c.1723T>G (p.Ter575Glu) c.416T>G (p.Leu139Arg) c.1399T>G (p.Ter467Glu) n.558T>G | |
| 3 | g.128481021A>G | CA354412368 | GATA2 | c.1441T>C (p.Ter481Gln) c.1723T>C (p.Ter575Gln) c.416T>C (p.Leu139Pro) c.1399T>C (p.Ter467Gln) n.558T>C | gnomAD v4 |
| 3 | g.128481021A>T | CA354412364 | GATA2 | c.1441T>A (p.Ter481Lys) c.1723T>A (p.Ter575Lys) c.416T>A (p.Leu139Gln) c.1399T>A (p.Ter467Lys) n.558T>A | |
| 3 | g.128481022G>A | CA435524207 | GATA2 | c.1440C>T (p.Gly480=) c.1722C>T (p.Gly574=) c.415C>T (p.Leu139=) c.1398C>T (p.Gly466=) n.557C>T | |
| 3 | g.128481022G>C | CA83376171 | GATA2 | c.1440C>G (p.Gly480=) c.1722C>G (p.Gly574=) c.415C>G (p.Leu139Val) c.1398C>G (p.Gly466=) n.557C>G | dbSNP |
| 3 | g.128481022G= | CA1400713662 | GATA2 | c.1440C= (p.Gly480=) c.1722C= (p.Gly574=) c.415C= (p.Leu139=) c.1398C= (p.Gly466=) n.557C= | |
| 3 | g.128481022G>T | CA435524209 | GATA2 | c.1440C>A (p.Gly480=) c.1722C>A (p.Gly574=) c.415C>A (p.Leu139Ile) c.1398C>A (p.Gly466=) n.557C>A | |
| 3 | g.128481023C>A | CA354412370 | GATA2 | c.1439G>T (p.Gly480Val) c.1721G>T (p.Gly574Val) c.414G>T (p.Gly138=) c.1397G>T (p.Gly466Val) n.556G>T | |
| 3 | g.128481023C>G | CA354412372 | GATA2 | c.1439G>C (p.Gly480Ala) c.1721G>C (p.Gly574Ala) c.414G>C (p.Gly138=) c.1397G>C (p.Gly466Ala) n.556G>C | |
| 3 | g.128481023C>T | CA354412374 | GATA2 | c.1439G>A (p.Gly480Asp) c.1721G>A (p.Gly574Asp) c.414G>A (p.Gly138=) c.1397G>A (p.Gly466Asp) n.556G>A | |
| 3 | g.128481024C>A | CA83376173 | GATA2 | c.1438G>T (p.Gly480Cys) c.1720G>T (p.Gly574Cys) c.413G>T (p.Gly138Val) c.1396G>T (p.Gly466Cys) n.555G>T | dbSNP gnomAD v4 |
| 3 | g.128481024C= | CA1400713665 | GATA2 | c.1438G= (p.Gly480=) c.1720G= (p.Gly574=) c.413G= (p.Gly138=) c.1396G= (p.Gly466=) n.555G= | |
| 3 | g.128481024C>G | CA354412378 | GATA2 | c.1438G>C (p.Gly480Arg) c.1720G>C (p.Gly574Arg) c.413G>C (p.Gly138Ala) c.1396G>C (p.Gly466Arg) n.555G>C | |
| 3 | g.128481024C>T | CA354412376 | GATA2 | c.1438G>A (p.Gly480Ser) c.1720G>A (p.Gly574Ser) c.413G>A (p.Gly138Glu) c.1396G>A (p.Gly466Ser) n.555G>A | gnomAD v4 |
| 3 | g.128481025C>A | CA83376175 | GATA2 | c.1437G>T (p.Met479Ile) c.1719G>T (p.Met573Ile) c.412G>T (p.Gly138Trp) c.1395G>T (p.Met465Ile) n.554G>T | dbSNP gnomAD v4 |
| 3 | g.128481025C= | CA1400713670 | GATA2 | c.1437G= (p.Met479=) c.1719G= (p.Met573=) c.412G= (p.Gly138=) c.1395G= (p.Met465=) n.554G= | |
| 3 | g.128481025C>G | CA354412380 | GATA2 | c.1437G>C (p.Met479Ile) c.1719G>C (p.Met573Ile) c.412G>C (p.Gly138Arg) c.1395G>C (p.Met465Ile) n.554G>C | |
| 3 | g.128481025C>T | CA83376177 | GATA2 | c.1437G>A (p.Met479Ile) c.1719G>A (p.Met573Ile) c.412G>A (p.Gly138Arg) c.1395G>A (p.Met465Ile) n.554G>A | dbSNP COSMIC |
| 3 | g.128481026A= | CA1400713676 | GATA2 | c.1436T= (p.Met479=) c.1718T= (p.Met573=) c.411T= (p.His137=) c.1394T= (p.Met465=) n.553T= | |
| 3 | g.128481026A>C | CA354412383 | GATA2 | c.1436T>G (p.Met479Arg) c.1718T>G (p.Met573Arg) c.411T>G (p.His137Gln) c.1394T>G (p.Met465Arg) n.553T>G | |
| 3 | g.128481026A>G | CA354412384 | GATA2 | c.1436T>C (p.Met479Thr) c.1718T>C (p.Met573Thr) c.411T>C (p.His137=) c.1394T>C (p.Met465Thr) n.553T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481026A>T | CA354412386 | GATA2 | c.1436T>A (p.Met479Lys) c.1718T>A (p.Met573Lys) c.411T>A (p.His137Gln) c.1394T>A (p.Met465Lys) n.553T>A | |
| 3 | g.128481027T>A | CA354412387 | GATA2 | c.1435A>T (p.Met479Leu) c.1717A>T (p.Met573Leu) c.410A>T (p.His137Leu) c.1393A>T (p.Met465Leu) n.552A>T | |
| 3 | g.128481027T>C | CA354412390 | GATA2 | c.1435A>G (p.Met479Val) c.1717A>G (p.Met573Val) c.410A>G (p.His137Arg) c.1393A>G (p.Met465Val) n.552A>G | gnomAD v4 |
| 3 | g.128481027T>G | CA354412389 | GATA2 | c.1435A>C (p.Met479Leu) c.1717A>C (p.Met573Leu) c.410A>C (p.His137Pro) c.1393A>C (p.Met465Leu) n.552A>C | |
| 3 | g.128481028G>A | CA435524221 | GATA2 | c.1434C>T (p.Ala478=) c.1716C>T (p.Ala572=) c.409C>T (p.His137Tyr) c.1392C>T (p.Ala464=) n.551C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481028G>C | CA435524222 | GATA2 | c.1434C>G (p.Ala478=) c.1716C>G (p.Ala572=) c.409C>G (p.His137Asp) c.1392C>G (p.Ala464=) n.551C>G | |
| 3 | g.128481028G= | CA1400713678 | GATA2 | c.1434C= (p.Ala478=) c.1716C= (p.Ala572=) c.409C= (p.His137=) c.1392C= (p.Ala464=) n.551C= | |
| 3 | g.128481028G>T | CA435524223 | GATA2 | c.1434C>A (p.Ala478=) c.1716C>A (p.Ala572=) c.409C>A (p.His137Asn) c.1392C>A (p.Ala464=) n.551C>A | gnomAD v4 |
| 3 | g.128481029G>A | CA354412392 | GATA2 | c.1433C>T (p.Ala478Val) c.1715C>T (p.Ala572Val) c.408C>T (p.Arg136=) c.1391C>T (p.Ala464Val) n.550C>T | ClinVar dbSNP |
| 3 | g.128481029G>C | CA354412395 | GATA2 | c.1433C>G (p.Ala478Gly) c.1715C>G (p.Ala572Gly) c.408C>G (p.Arg136=) c.1391C>G (p.Ala464Gly) n.550C>G | |
| 3 | g.128481029G= | CA1400713685 | GATA2 | c.1433C= (p.Ala478=) c.1715C= (p.Ala572=) c.408C= (p.Arg136=) c.1391C= (p.Ala464=) n.550C= | |
| 3 | g.128481029G>T | CA354412394 | GATA2 | c.1433C>A (p.Ala478Asp) c.1715C>A (p.Ala572Asp) c.408C>A (p.Arg136=) c.1391C>A (p.Ala464Asp) n.550C>A | |
| 3 | g.128481030C>A | CA354412397 | GATA2 | c.1432G>T (p.Ala478Ser) c.1714G>T (p.Ala572Ser) c.407G>T (p.Arg136Leu) c.1390G>T (p.Ala464Ser) n.549G>T | gnomAD v4 COSMIC |
| 3 | g.128481030C= | CA1400713689 | GATA2 | c.1432G= (p.Ala478=) c.1714G= (p.Ala572=) c.407G= (p.Arg136=) c.1390G= (p.Ala464=) n.549G= | |
| 3 | g.128481030C>G | CA354412398 | GATA2 | c.1432G>C (p.Ala478Pro) c.1714G>C (p.Ala572Pro) c.407G>C (p.Arg136Pro) c.1390G>C (p.Ala464Pro) n.549G>C | |
| 3 | g.128481030C>T | CA2599772 | GATA2 | c.1432G>A (p.Ala478Thr) c.1714G>A (p.Ala572Thr) c.407G>A (p.Arg136His) c.1390G>A (p.Ala464Thr) n.549G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481031G>A | CA2599773 | GATA2 | c.1431C>T (p.Thr477=) c.1713C>T (p.Thr571=) c.406C>T (p.Arg136Cys) c.1389C>T (p.Thr463=) n.548C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481031G>C | CA435524230 | GATA2 | c.1431C>G (p.Thr477=) c.1713C>G (p.Thr571=) c.406C>G (p.Arg136Gly) c.1389C>G (p.Thr463=) n.548C>G | gnomAD v4 |
| 3 | g.128481031G= | CA1400713693 | GATA2 | c.1431C= (p.Thr477=) c.1713C= (p.Thr571=) c.406C= (p.Arg136=) c.1389C= (p.Thr463=) n.548C= | |
| 3 | g.128481031G>T | CA435524231 | GATA2 | c.1431C>A (p.Thr477=) c.1713C>A (p.Thr571=) c.406C>A (p.Arg136Ser) c.1389C>A (p.Thr463=) n.548C>A | gnomAD v4 |
| 3 | g.128481032G>A | CA354412402 | GATA2 | c.1430C>T (p.Thr477Ile) c.1712C>T (p.Thr571Ile) c.405C>T (p.Asp135=) c.1388C>T (p.Thr463Ile) n.547C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128481032G>C | CA354412403 | GATA2 | c.1430C>G (p.Thr477Ser) c.1712C>G (p.Thr571Ser) c.405C>G (p.Asp135Glu) c.1388C>G (p.Thr463Ser) n.547C>G | |
| 3 | g.128481032G= | CA1400713698 | GATA2 | c.1430C= (p.Thr477=) c.1712C= (p.Thr571=) c.405C= (p.Asp135=) c.1388C= (p.Thr463=) n.547C= | |
| 3 | g.128481032G>T | CA354412404 | GATA2 | c.1430C>A (p.Thr477Asn) c.1712C>A (p.Thr571Asn) c.405C>A (p.Asp135Glu) c.1388C>A (p.Thr463Asn) n.547C>A | |
| 3 | g.128481033T>A | CA354412406 | GATA2 | c.1429A>T (p.Thr477Ser) c.1711A>T (p.Thr571Ser) c.404A>T (p.Asp135Val) c.1387A>T (p.Thr463Ser) n.546A>T | dbSNP |
| 3 | g.128481033T>C | CA354412408 | GATA2 | c.1429A>G (p.Thr477Ala) c.1711A>G (p.Thr571Ala) c.404A>G (p.Asp135Gly) c.1387A>G (p.Thr463Ala) n.546A>G | ClinVar dbSNP |
| 3 | g.128481033T>G | CA354412410 | GATA2 | c.1429A>C (p.Thr477Pro) c.1711A>C (p.Thr571Pro) c.404A>C (p.Asp135Ala) c.1387A>C (p.Thr463Pro) n.546A>C | dbSNP |
| 3 | g.128481034C>A | CA435524237 | GATA2 | c.1428G>T (p.Val476=) c.1710G>T (p.Val570=) c.403G>T (p.Asp135Tyr) c.1386G>T (p.Val462=) n.545G>T | |
| 3 | g.128481034C= | CA1400713701 | GATA2 | c.1428G= (p.Val476=) c.1710G= (p.Val570=) c.403G= (p.Asp135=) c.1386G= (p.Val462=) n.545G= | |
| 3 | g.128481034C>G | CA435524238 | GATA2 | c.1428G>C (p.Val476=) c.1710G>C (p.Val570=) c.403G>C (p.Asp135His) c.1386G>C (p.Val462=) n.545G>C | |
| 3 | g.128481034C>T | CA435524240 | GATA2 | c.1428G>A (p.Val476=) c.1710G>A (p.Val570=) c.403G>A (p.Asp135Asn) c.1386G>A (p.Val462=) n.545G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481035A= | CA1400713703 | GATA2 | c.1427T= (p.Val476=) c.1709T= (p.Val570=) c.402T= (p.Gly134=) c.1385T= (p.Val462=) n.544T= | |
| 3 | g.128481035A>C | CA354412414 | GATA2 | c.1427T>G (p.Val476Gly) c.1709T>G (p.Val570Gly) c.402T>G (p.Gly134=) c.1385T>G (p.Val462Gly) n.544T>G | |
| 3 | g.128481035A>G | CA354412413 | GATA2 | c.1427T>C (p.Val476Ala) c.1709T>C (p.Val570Ala) c.402T>C (p.Gly134=) c.1385T>C (p.Val462Ala) n.544T>C | ClinVar dbSNP |
| 3 | g.128481035A>T | CA354412411 | GATA2 | c.1427T>A (p.Val476Glu) c.1709T>A (p.Val570Glu) c.402T>A (p.Gly134=) c.1385T>A (p.Val462Glu) n.544T>A | |
| 3 | g.128481036C>A | CA354412416 | GATA2 | c.1426G>T (p.Val476Leu) c.1708G>T (p.Val570Leu) c.401G>T (p.Gly134Val) c.1384G>T (p.Val462Leu) n.543G>T | |
| 3 | g.128481036C= | CA1400713704 | GATA2 | c.1426G= (p.Val476=) c.1708G= (p.Val570=) c.401G= (p.Gly134=) c.1384G= (p.Val462=) n.543G= | |
| 3 | g.128481036C>G | CA354412417 | GATA2 | c.1426G>C (p.Val476Leu) c.1708G>C (p.Val570Leu) c.401G>C (p.Gly134Ala) c.1384G>C (p.Val462Leu) n.543G>C | |
| 3 | g.128481036C>T | CA354412419 | GATA2 | c.1426G>A (p.Val476Met) c.1708G>A (p.Val570Met) c.401G>A (p.Gly134Asp) c.1384G>A (p.Val462Met) n.543G>A | ClinVar dbSNP gnomAD v2 |
| 3 | g.128481037C>A | CA354412421 | GATA2 | c.1425G>T (p.Met475Ile) c.1707G>T (p.Met569Ile) c.400G>T (p.Gly134Cys) c.1383G>T (p.Met461Ile) n.542G>T | |
| 3 | g.128481037C>G | CA354412422 | GATA2 | c.1425G>C (p.Met475Ile) c.1707G>C (p.Met569Ile) c.400G>C (p.Gly134Arg) c.1383G>C (p.Met461Ile) n.542G>C | |
| 3 | g.128481037C>T | CA354412424 | GATA2 | c.1425G>A (p.Met475Ile) c.1707G>A (p.Met569Ile) c.400G>A (p.Gly134Ser) c.1383G>A (p.Met461Ile) n.542G>A | |
| 3 | g.128481038A>C | CA354412426 | GATA2 | c.1424T>G (p.Met475Arg) c.1706T>G (p.Met569Arg) c.399T>G (p.His133Gln) c.1382T>G (p.Met461Arg) n.541T>G | |
| 3 | g.128481038A>G | CA354412427 | GATA2 | c.1424T>C (p.Met475Thr) c.1706T>C (p.Met569Thr) c.399T>C (p.His133=) c.1382T>C (p.Met461Thr) n.541T>C | |
| 3 | g.128481038A>T | CA354412429 | GATA2 | c.1424T>A (p.Met475Lys) c.1706T>A (p.Met569Lys) c.399T>A (p.His133Gln) c.1382T>A (p.Met461Lys) n.541T>A | |
| 3 | g.128481039T>A | CA354412431 | GATA2 | c.1423A>T (p.Met475Leu) c.1705A>T (p.Met569Leu) c.398A>T (p.His133Leu) c.1381A>T (p.Met461Leu) n.540A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481039T>C | CA354412433 | GATA2 | c.1423A>G (p.Met475Val) c.1705A>G (p.Met569Val) c.398A>G (p.His133Arg) c.1381A>G (p.Met461Val) n.540A>G | ClinVar dbSNP gnomAD v2 |
| 3 | g.128481039T>G | CA354412434 | GATA2 | c.1423A>C (p.Met475Leu) c.1705A>C (p.Met569Leu) c.398A>C (p.His133Pro) c.1381A>C (p.Met461Leu) n.540A>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481039T= | CA1400713706 | GATA2 | c.1423A= (p.Met475=) c.1705A= (p.Met569=) c.398A= (p.His133=) c.1381A= (p.Met461=) n.540A= | |
| 3 | g.128481040G>A | CA435524250 | GATA2 | c.1422C>T (p.Ser474=) c.1704C>T (p.Ser568=) c.397C>T (p.His133Tyr) c.1380C>T (p.Ser460=) n.539C>T | |
| 3 | g.128481040G>C | CA354412438 | GATA2 | c.1422C>G (p.Ser474Arg) c.1704C>G (p.Ser568Arg) c.397C>G (p.His133Asp) c.1380C>G (p.Ser460Arg) n.539C>G | |
| 3 | g.128481040G>T | CA354412436 | GATA2 | c.1422C>A (p.Ser474Arg) c.1704C>A (p.Ser568Arg) c.397C>A (p.His133Asn) c.1380C>A (p.Ser460Arg) n.539C>A | gnomAD v4 |
| 3 | g.128481041C>A | CA354412440 | GATA2 | c.1421G>T (p.Ser474Ile) c.1703G>T (p.Ser568Ile) c.396G>T (p.Gln132His) c.1379G>T (p.Ser460Ile) n.538G>T | gnomAD v4 |
| 3 | g.128481041C= | CA1400713710 | GATA2 | c.1421G= (p.Ser474=) c.1703G= (p.Ser568=) c.396G= (p.Gln132=) c.1379G= (p.Ser460=) n.538G= | |
| 3 | g.128481041C>G | CA354412442 | GATA2 | c.1421G>C (p.Ser474Thr) c.1703G>C (p.Ser568Thr) c.396G>C (p.Gln132His) c.1379G>C (p.Ser460Thr) n.538G>C | ClinVar dbSNP |
| 3 | g.128481041C>T | CA354412443 | GATA2 | c.1421G>A (p.Ser474Asn) c.1703G>A (p.Ser568Asn) c.396G>A (p.Gln132=) c.1379G>A (p.Ser460Asn) n.538G>A | dbSNP |
| 3 | g.128481042T>A | CA354412445 | GATA2 | c.1420A>T (p.Ser474Cys) c.1702A>T (p.Ser568Cys) c.395A>T (p.Gln132Leu) c.1378A>T (p.Ser460Cys) n.537A>T | |
| 3 | g.128481042T>C | CA354412447 | GATA2 | c.1420A>G (p.Ser474Gly) c.1702A>G (p.Ser568Gly) c.395A>G (p.Gln132Arg) c.1378A>G (p.Ser460Gly) n.537A>G | |
| 3 | g.128481042T>G | CA354412448 | GATA2 | c.1420A>C (p.Ser474Arg) c.1702A>C (p.Ser568Arg) c.395A>C (p.Gln132Pro) c.1378A>C (p.Ser460Arg) n.537A>C | |
| 3 | g.128481043G>A | CA435524256 | GATA2 | c.1419C>T (p.Ser473=) c.1701C>T (p.Ser567=) c.394C>T (p.Gln132Ter) c.1377C>T (p.Ser459=) n.536C>T | COSMIC |
| 3 | g.128481043G>C | CA435524258 | GATA2 | c.1419C>G (p.Ser473=) c.1701C>G (p.Ser567=) c.394C>G (p.Gln132Glu) c.1377C>G (p.Ser459=) n.536C>G | gnomAD v4 |
| 3 | g.128481043G>T | CA435524259 | GATA2 | c.1419C>A (p.Ser473=) c.1701C>A (p.Ser567=) c.394C>A (p.Gln132Lys) c.1377C>A (p.Ser459=) n.536C>A | |
| 3 | g.128481044G>A | CA354412449 | GATA2 | c.1418C>T (p.Ser473Phe) c.1700C>T (p.Ser567Phe) c.393C>T (p.Val131=) c.1376C>T (p.Ser459Phe) n.535C>T | dbSNP COSMIC |
| 3 | g.128481044G>C | CA354412451 | GATA2 | c.1418C>G (p.Ser473Cys) c.1700C>G (p.Ser567Cys) c.393C>G (p.Val131=) c.1376C>G (p.Ser459Cys) n.535C>G | |
| 3 | g.128481044G= | CA1400713712 | GATA2 | c.1418C= (p.Ser473=) c.1700C= (p.Ser567=) c.393C= (p.Val131=) c.1376C= (p.Ser459=) n.535C= | |
| 3 | g.128481044G>T | CA354412452 | GATA2 | c.1418C>A (p.Ser473Tyr) c.1700C>A (p.Ser567Tyr) c.393C>A (p.Val131=) c.1376C>A (p.Ser459Tyr) n.535C>A | |
| 3 | g.128481045A= | CA1400713715 | GATA2 | c.1417T= (p.Ser473=) c.1699T= (p.Ser567=) c.392T= (p.Val131=) c.1375T= (p.Ser459=) n.534T= | |
| 3 | g.128481045A>C | CA354412454 | GATA2 | c.1417T>G (p.Ser473Ala) c.1699T>G (p.Ser567Ala) c.392T>G (p.Val131Gly) c.1375T>G (p.Ser459Ala) n.534T>G | |
| 3 | g.128481045A>G | CA354412455 | GATA2 | c.1417T>C (p.Ser473Pro) c.1699T>C (p.Ser567Pro) c.392T>C (p.Val131Ala) c.1375T>C (p.Ser459Pro) n.534T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481045A>T | CA354412457 | GATA2 | c.1417T>A (p.Ser473Thr) c.1699T>A (p.Ser567Thr) c.392T>A (p.Val131Asp) c.1375T>A (p.Ser459Thr) n.534T>A | |
| 3 | g.128481046C>A | CA435524266 | GATA2 | c.1416G>T (p.Pro472=) c.1698G>T (p.Pro566=) c.391G>T (p.Val131Phe) c.1374G>T (p.Pro458=) n.533G>T | ClinVar |
| 3 | g.128481046C= | CA1400713721 | GATA2 | c.1416G= (p.Pro472=) c.1698G= (p.Pro566=) c.391G= (p.Val131=) c.1374G= (p.Pro458=) n.533G= | |
| 3 | g.128481046C>G | CA435524267 | GATA2 | c.1416G>C (p.Pro472=) c.1698G>C (p.Pro566=) c.391G>C (p.Val131Leu) c.1374G>C (p.Pro458=) n.533G>C | dbSNP |
| 3 | g.128481046C>T | CA2599774 | GATA2 | c.1416G>A (p.Pro472=) c.1698G>A (p.Pro566=) c.391G>A (p.Val131Ile) c.1374G>A (p.Pro458=) n.533G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481047G>A | CA500008 | GATA2 | c.1415C>T (p.Pro472Leu) c.1697C>T (p.Pro566Leu) c.390C>T (p.Pro130=) c.1373C>T (p.Pro458Leu) n.532C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481047G>C | CA354412458 | GATA2 | c.1415C>G (p.Pro472Arg) c.1697C>G (p.Pro566Arg) c.390C>G (p.Pro130=) c.1373C>G (p.Pro458Arg) n.532C>G | |
| 3 | g.128481047G= | CA1400713730 | GATA2 | c.1415C= (p.Pro472=) c.1697C= (p.Pro566=) c.390C= (p.Pro130=) c.1373C= (p.Pro458=) n.532C= | |
| 3 | g.128481047G>T | CA2599775 | GATA2 | c.1415C>A (p.Pro472Gln) c.1697C>A (p.Pro566Gln) c.390C>A (p.Pro130=) c.1373C>A (p.Pro458Gln) n.532C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481048G>A | CA354412462 | GATA2 | c.1414C>T (p.Pro472Ser) c.1696C>T (p.Pro566Ser) c.389C>T (p.Pro130Leu) c.1372C>T (p.Pro458Ser) n.531C>T | gnomAD v4 |
| 3 | g.128481048G>C | CA354412463 | GATA2 | c.1414C>G (p.Pro472Ala) c.1696C>G (p.Pro566Ala) c.389C>G (p.Pro130Arg) c.1372C>G (p.Pro458Ala) n.531C>G | |
| 3 | g.128481048G>T | CA354412464 | GATA2 | c.1414C>A (p.Pro472Thr) c.1696C>A (p.Pro566Thr) c.389C>A (p.Pro130His) c.1372C>A (p.Pro458Thr) n.531C>A | |
| 3 | g.128481049G>A | CA435524273 | GATA2 | c.1413C>T (p.His471=) c.1695C>T (p.His565=) c.388C>T (p.Pro130Ser) c.1371C>T (p.His457=) n.530C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481049G>C | CA354412466 | GATA2 | c.1413C>G (p.His471Gln) c.1695C>G (p.His565Gln) c.388C>G (p.Pro130Ala) c.1371C>G (p.His457Gln) n.530C>G | |
| 3 | g.128481049G= | CA1400713735 | GATA2 | c.1413C= (p.His471=) c.1695C= (p.His565=) c.388C= (p.Pro130=) c.1371C= (p.His457=) n.530C= | |
| 3 | g.128481049G>T | CA354412467 | GATA2 | c.1413C>A (p.His471Gln) c.1695C>A (p.His565Gln) c.388C>A (p.Pro130Thr) c.1371C>A (p.His457Gln) n.530C>A | |
| 3 | g.128481050T>A | CA354412469 | GATA2 | c.1412A>T (p.His471Leu) c.1694A>T (p.His565Leu) c.387A>T (p.Pro129=) c.1370A>T (p.His457Leu) n.529A>T | |
| 3 | g.128481050T>C | CA354412470 | GATA2 | c.1412A>G (p.His471Arg) c.1694A>G (p.His565Arg) c.387A>G (p.Pro129=) c.1370A>G (p.His457Arg) n.529A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481050T>G | CA354412472 | GATA2 | c.1412A>C (p.His471Pro) c.1694A>C (p.His565Pro) c.387A>C (p.Pro129=) c.1370A>C (p.His457Pro) n.529A>C | dbSNP gnomAD v4 |
| 3 | g.128481050T= | CA1400713738 | GATA2 | c.1412A= (p.His471=) c.1694A= (p.His565=) c.387A= (p.Pro129=) c.1370A= (p.His457=) n.529A= | |
| 3 | g.128481051G>A | CA354412474 | GATA2 | c.1411C>T (p.His471Tyr) c.1693C>T (p.His565Tyr) c.386C>T (p.Pro129Leu) c.1369C>T (p.His457Tyr) n.528C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481051G>C | CA354412476 | GATA2 | c.1411C>G (p.His471Asp) c.1693C>G (p.His565Asp) c.386C>G (p.Pro129Arg) c.1369C>G (p.His457Asp) n.528C>G | |
| 3 | g.128481051G= | CA1400713741 | GATA2 | c.1411C= (p.His471=) c.1693C= (p.His565=) c.386C= (p.Pro129=) c.1369C= (p.His457=) n.528C= | |
| 3 | g.128481051G>T | CA354412477 | GATA2 | c.1411C>A (p.His471Asn) c.1693C>A (p.His565Asn) c.386C>A (p.Pro129Gln) c.1369C>A (p.His457Asn) n.528C>A | gnomAD v4 |
| 3 | g.128481051_128481052delinsTT | CA2580068689 | GATA2 | c.1410_1411delinsAA (p.His471Asn) c.1692_1693delinsAA (p.His565Asn) c.385_386delinsAA (p.Pro129Lys) c.1368_1369delinsAA (p.His457Asn) n.527_528delinsAA | ClinVar |
| 3 | g.128481055del | CA2667540265 | GATA2 | c.1411del (p.His471ThrfsTer6) c.1693del (p.His565ThrfsTer6) c.386del (p.Pro129HisfsTer11) c.1369del (p.His457ThrfsTer6) n.528del | gnomAD v4 |
| 3 | g.128481052G>A | CA10582131 | GATA2 | c.1410C>T (p.Pro470=) c.1692C>T (p.Pro564=) c.385C>T (p.Pro129Ser) c.1368C>T (p.Pro456=) n.527C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481052G>C | CA435524279 | GATA2 | c.1410C>G (p.Pro470=) c.1692C>G (p.Pro564=) c.385C>G (p.Pro129Ala) c.1368C>G (p.Pro456=) n.527C>G | |
| 3 | g.128481052G= | CA1400713745 | GATA2 | c.1410C= (p.Pro470=) c.1692C= (p.Pro564=) c.385C= (p.Pro129=) c.1368C= (p.Pro456=) n.527C= | |
| 3 | g.128481052G>T | CA435524281 | GATA2 | c.1410C>A (p.Pro470=) c.1692C>A (p.Pro564=) c.385C>A (p.Pro129Thr) c.1368C>A (p.Pro456=) n.527C>A | gnomAD v4 |
| 3 | g.128481053G>A | CA354412482 | GATA2 | c.1409C>T (p.Pro470Leu) c.1691C>T (p.Pro564Leu) c.384C>T (p.Pro128=) c.1367C>T (p.Pro456Leu) n.526C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481053G>C | CA354412481 | GATA2 | c.1409C>G (p.Pro470Arg) c.1691C>G (p.Pro564Arg) c.384C>G (p.Pro128=) c.1367C>G (p.Pro456Arg) n.526C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481053G= | CA1400713752 | GATA2 | c.1409C= (p.Pro470=) c.1691C= (p.Pro564=) c.384C= (p.Pro128=) c.1367C= (p.Pro456=) n.526C= | |
| 3 | g.128481053G>T | CA354412479 | GATA2 | c.1409C>A (p.Pro470His) c.1691C>A (p.Pro564His) c.384C>A (p.Pro128=) c.1367C>A (p.Pro456His) n.526C>A | |
| 3 | g.128481054G>A | CA354412484 | GATA2 | c.1408C>T (p.Pro470Ser) c.1690C>T (p.Pro564Ser) c.383C>T (p.Pro128Leu) c.1366C>T (p.Pro456Ser) n.525C>T | gnomAD v4 |
| 3 | g.128481054G>C | CA354412488 | GATA2 | c.1408C>G (p.Pro470Ala) c.1690C>G (p.Pro564Ala) c.383C>G (p.Pro128Arg) c.1366C>G (p.Pro456Ala) n.525C>G | |
| 3 | g.128481054G>T | CA354412486 | GATA2 | c.1408C>A (p.Pro470Thr) c.1690C>A (p.Pro564Thr) c.383C>A (p.Pro128His) c.1366C>A (p.Pro456Thr) n.525C>A | |
| 3 | g.128481055G>A | CA2599776 | GATA2 | c.1407C>T (p.His469=) c.1689C>T (p.His563=) c.382C>T (p.Pro128Ser) c.1365C>T (p.His455=) n.524C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481055G>C | CA354412491 | GATA2 | c.1407C>G (p.His469Gln) c.1689C>G (p.His563Gln) c.382C>G (p.Pro128Ala) c.1365C>G (p.His455Gln) n.524C>G | |
| 3 | g.128481055G= | CA1400713757 | GATA2 | c.1407C= (p.His469=) c.1689C= (p.His563=) c.382C= (p.Pro128=) c.1365C= (p.His455=) n.524C= | |
| 3 | g.128481055G>T | CA354412489 | GATA2 | c.1407C>A (p.His469Gln) c.1689C>A (p.His563Gln) c.382C>A (p.Pro128Thr) c.1365C>A (p.His455Gln) n.524C>A | ClinVar dbSNP |
| 3 | g.128481056T>A | CA354412493 | GATA2 | c.1406A>T (p.His469Leu) c.1688A>T (p.His563Leu) c.381A>T (p.Pro127=) c.1364A>T (p.His455Leu) n.523A>T | |
| 3 | g.128481056T>C | CA354412494 | GATA2 | c.1406A>G (p.His469Arg) c.1688A>G (p.His563Arg) c.381A>G (p.Pro127=) c.1364A>G (p.His455Arg) n.523A>G | |
| 3 | g.128481056T>G | CA354412495 | GATA2 | c.1406A>C (p.His469Pro) c.1688A>C (p.His563Pro) c.381A>C (p.Pro127=) c.1364A>C (p.His455Pro) n.523A>C | dbSNP |
| 3 | g.128481056T= | CA1400713762 | GATA2 | c.1406A= (p.His469=) c.1688A= (p.His563=) c.381A= (p.Pro127=) c.1364A= (p.His455=) n.523A= | |
| 3 | g.128481057G>A | CA354412496 | GATA2 | c.1405C>T (p.His469Tyr) c.1687C>T (p.His563Tyr) c.380C>T (p.Pro127Leu) c.1363C>T (p.His455Tyr) n.522C>T | ClinVar dbSNP |
| 3 | g.128481057G>C | CA354412497 | GATA2 | c.1405C>G (p.His469Asp) c.1687C>G (p.His563Asp) c.380C>G (p.Pro127Arg) c.1363C>G (p.His455Asp) n.522C>G | |
| 3 | g.128481057G= | CA1400713765 | GATA2 | c.1405C= (p.His469=) c.1687C= (p.His563=) c.380C= (p.Pro127=) c.1363C= (p.His455=) n.522C= | |
| 3 | g.128481057G>T | CA354412498 | GATA2 | c.1405C>A (p.His469Asn) c.1687C>A (p.His563Asn) c.380C>A (p.Pro127Gln) c.1363C>A (p.His455Asn) n.522C>A | |
| 3 | g.128481058G>A | CA435524290 | GATA2 | c.1404C>T (p.Gly468=) c.1686C>T (p.Gly562=) c.379C>T (p.Pro127Ser) c.1362C>T (p.Gly454=) n.521C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481058G>C | CA435524291 | GATA2 | c.1404C>G (p.Gly468=) c.1686C>G (p.Gly562=) c.379C>G (p.Pro127Ala) c.1362C>G (p.Gly454=) n.521C>G | |
| 3 | g.128481058G>T | CA435524293 | GATA2 | c.1404C>A (p.Gly468=) c.1686C>A (p.Gly562=) c.379C>A (p.Pro127Thr) c.1362C>A (p.Gly454=) n.521C>A | |
| 3 | g.128481059C>A | CA354412499 | GATA2 | c.1403G>T (p.Gly468Val) c.1685G>T (p.Gly562Val) c.378G>T (p.Arg126=) c.1361G>T (p.Gly454Val) n.520G>T | dbSNP |
| 3 | g.128481059C>G | CA354412500 | GATA2 | c.1403G>C (p.Gly468Ala) c.1685G>C (p.Gly562Ala) c.378G>C (p.Arg126=) c.1361G>C (p.Gly454Ala) n.520G>C | dbSNP |
| 3 | g.128481059C>T | CA354412501 | GATA2 | c.1403G>A (p.Gly468Asp) c.1685G>A (p.Gly562Asp) c.378G>A (p.Arg126=) c.1361G>A (p.Gly454Asp) n.520G>A | ClinVar dbSNP |
| 3 | g.128481060C>A | CA354412502 | GATA2 | c.1402G>T (p.Gly468Cys) c.1684G>T (p.Gly562Cys) c.377G>T (p.Arg126Leu) c.1360G>T (p.Gly454Cys) n.519G>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481060C= | CA1400713768 | GATA2 | c.1402G= (p.Gly468=) c.1684G= (p.Gly562=) c.377G= (p.Arg126=) c.1360G= (p.Gly454=) n.519G= | |
| 3 | g.128481060C>G | CA354412503 | GATA2 | c.1402G>C (p.Gly468Arg) c.1684G>C (p.Gly562Arg) c.377G>C (p.Arg126Pro) c.1360G>C (p.Gly454Arg) n.519G>C | dbSNP |
| 3 | g.128481060C>T | CA2599777 | GATA2 | c.1402G>A (p.Gly468Ser) c.1684G>A (p.Gly562Ser) c.377G>A (p.Arg126Gln) c.1360G>A (p.Gly454Ser) n.519G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481060_128481063delinsCGAA | CA1400713772 | GATA2 | c.1399_1402delinsTTCG (p.Phe467=) c.1681_1684delinsTTCG (p.Phe561=) c.374_377delinsTTCG (p.Leu125=) c.1357_1360delinsTTCG (p.Phe453=) n.516_519delinsTTCG | |
| 3 | g.128481061G>A | CA2599778 | GATA2 | c.1401C>T (p.Phe467=) c.1683C>T (p.Phe561=) c.376C>T (p.Arg126Trp) c.1359C>T (p.Phe453=) n.518C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481061G>C | CA354412506 | GATA2 | c.1401C>G (p.Phe467Leu) c.1683C>G (p.Phe561Leu) c.376C>G (p.Arg126Gly) c.1359C>G (p.Phe453Leu) n.518C>G | |
| 3 | g.128481061G= | CA1400713778 | GATA2 | c.1401C= (p.Phe467=) c.1683C= (p.Phe561=) c.376C= (p.Arg126=) c.1359C= (p.Phe453=) n.518C= | |
| 3 | g.128481061G>T | CA354412505 | GATA2 | c.1401C>A (p.Phe467Leu) c.1683C>A (p.Phe561Leu) c.376C>A (p.Arg126=) c.1359C>A (p.Phe453Leu) n.518C>A | |
| 3 | g.128481062_128481064del | CA1400713776 | GATA2 | c.1399_1401del (p.Phe467del) c.1681_1683del (p.Phe561del) c.374_376del (p.Leu125del) c.1357_1359del (p.Phe453del) n.516_518del | ClinVar dbSNP |
| 3 | g.128481062A>C | CA354412507 | GATA2 | c.1400T>G (p.Phe467Cys) c.1682T>G (p.Phe561Cys) c.375T>G (p.Leu125=) c.1358T>G (p.Phe453Cys) n.517T>G | |
| 3 | g.128481062A>G | CA354412508 | GATA2 | c.1400T>C (p.Phe467Ser) c.1682T>C (p.Phe561Ser) c.375T>C (p.Leu125=) c.1358T>C (p.Phe453Ser) n.517T>C | |
| 3 | g.128481062A>T | CA354412509 | GATA2 | c.1400T>A (p.Phe467Tyr) c.1682T>A (p.Phe561Tyr) c.375T>A (p.Leu125=) c.1358T>A (p.Phe453Tyr) n.517T>A | |
| 3 | g.128481063A= | CA1400713780 | GATA2 | c.1399T= (p.Phe467=) c.1681T= (p.Phe561=) c.374T= (p.Leu125=) c.1357T= (p.Phe453=) n.516T= | |
| 3 | g.128481063A>C | CA354412510 | GATA2 | c.1399T>G (p.Phe467Val) c.1681T>G (p.Phe561Val) c.374T>G (p.Leu125Arg) c.1357T>G (p.Phe453Val) n.516T>G | |
| 3 | g.128481063A>G | CA354412511 | GATA2 | c.1399T>C (p.Phe467Leu) c.1681T>C (p.Phe561Leu) c.374T>C (p.Leu125Pro) c.1357T>C (p.Phe453Leu) n.516T>C | |
| 3 | g.128481063A>T | CA354412512 | GATA2 | c.1399T>A (p.Phe467Ile) c.1681T>A (p.Phe561Ile) c.374T>A (p.Leu125His) c.1357T>A (p.Phe453Ile) n.516T>A | |
| 3 | g.128481064G>A | CA435524304 | GATA2 | c.1398C>T (p.Ser466=) c.1680C>T (p.Ser560=) c.373C>T (p.Leu125Phe) c.1356C>T (p.Ser452=) n.515C>T | ClinVar |
| 3 | g.128481064G>C | CA435524306 | GATA2 | c.1398C>G (p.Ser466=) c.1680C>G (p.Ser560=) c.373C>G (p.Leu125Val) c.1356C>G (p.Ser452=) n.515C>G | |
| 3 | g.128481064G>T | CA435524307 | GATA2 | c.1398C>A (p.Ser466=) c.1680C>A (p.Ser560=) c.373C>A (p.Leu125Ile) c.1356C>A (p.Ser452=) n.515C>A | |
| 3 | g.128481064_128481065delinsAA | CA645529122 | GATA2 | c.1397_1398delinsTT (p.Ser466Phe) c.1679_1680delinsTT (p.Ser560Phe) c.372_373delinsTT (p.Leu125Phe) c.1355_1356delinsTT (p.Ser452Phe) n.514_515delinsTT | COSMIC |
| 3 | g.128481064_128481067del | CA2565122672 | GATA2 | c.1395_1398del (p.Phe467AlafsTer9) c.1677_1680del (p.Phe561AlafsTer9) c.370_373del (p.Leu124PhefsTer15) c.1353_1356del (p.Phe453AlafsTer9) n.512_515del | |
| 3 | g.128481068_128481076dup | CA546105447 | GATA2 | c.1390_1398dup (p.Ser466_Phe467insSerLeuSer) c.1672_1680dup (p.Ser560_Phe561insSerLeuSer) c.365_373dup (p.Leu124_Leu125insGlnProLeu) c.1348_1356dup (p.Ser452_Phe453insSerLeuSer) n.507_515dup | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481065G>A | CA354412515 | GATA2 | c.1397C>T (p.Ser466Phe) c.1679C>T (p.Ser560Phe) c.372C>T (p.Leu124=) c.1355C>T (p.Ser452Phe) n.514C>T | dbSNP gnomAD v4 |
| 3 | g.128481065G>C | CA354412516 | GATA2 | c.1397C>G (p.Ser466Cys) c.1679C>G (p.Ser560Cys) c.372C>G (p.Leu124=) c.1355C>G (p.Ser452Cys) n.514C>G | |
| 3 | g.128481065G>T | CA354412518 | GATA2 | c.1397C>A (p.Ser466Tyr) c.1679C>A (p.Ser560Tyr) c.372C>A (p.Leu124=) c.1355C>A (p.Ser452Tyr) n.514C>A | |
| 3 | g.128481068_128481069del | CA2580616526 | GATA2 | c.1396_1397del (p.Ser466LeufsTer?) c.1678_1679del (p.Ser560LeufsTer?) c.371_372del (p.Leu124ProfsTer11) c.1354_1355del (p.Ser452LeufsTer?) n.513_514del | ClinVar dbSNP |
| 3 | g.128481066A>C | CA354412522 | GATA2 | c.1396T>G (p.Ser466Ala) c.1678T>G (p.Ser560Ala) c.371T>G (p.Leu124Arg) c.1354T>G (p.Ser452Ala) n.513T>G | |
| 3 | g.128481066A>G | CA354412521 | GATA2 | c.1396T>C (p.Ser466Pro) c.1678T>C (p.Ser560Pro) c.371T>C (p.Leu124Pro) c.1354T>C (p.Ser452Pro) n.513T>C | |
| 3 | g.128481066A>T | CA354412519 | GATA2 | c.1396T>A (p.Ser466Thr) c.1678T>A (p.Ser560Thr) c.371T>A (p.Leu124His) c.1354T>A (p.Ser452Thr) n.513T>A | |
| 3 | g.128481067G>A | CA435524313 | GATA2 | c.1395C>T (p.Leu465=) c.1677C>T (p.Leu559=) c.370C>T (p.Leu124Phe) c.1353C>T (p.Leu451=) n.512C>T | gnomAD v4 |
| 3 | g.128481067G>C | CA435524314 | GATA2 | c.1395C>G (p.Leu465=) c.1677C>G (p.Leu559=) c.370C>G (p.Leu124Val) c.1353C>G (p.Leu451=) n.512C>G | |
| 3 | g.128481067G>T | CA435524316 | GATA2 | c.1395C>A (p.Leu465=) c.1677C>A (p.Leu559=) c.370C>A (p.Leu124Ile) c.1353C>A (p.Leu451=) n.512C>A | |
| 3 | g.128481067_128481068insCTCC | CA2503548213 | GATA2 | c.1394_1395insGGAG (p.Ser466GlufsTer?) c.1676_1677insGGAG (p.Ser560GlufsTer?) c.369_370insGGAG (p.Leu124GlyfsTer13) c.1352_1353insGGAG (p.Ser452GlufsTer?) n.511_512insGGAG | |
| 3 | g.128481068A= | CA1400713784 | GATA2 | c.1394T= (p.Leu465=) c.1676T= (p.Leu559=) c.369T= (p.Pro123=) c.1352T= (p.Leu451=) n.511T= | |
| 3 | g.128481068A>C | CA354412524 | GATA2 | c.1394T>G (p.Leu465Arg) c.1676T>G (p.Leu559Arg) c.369T>G (p.Pro123=) c.1352T>G (p.Leu451Arg) n.511T>G | |
| 3 | g.128481068A>G | CA354412525 | GATA2 | c.1394T>C (p.Leu465Pro) c.1676T>C (p.Leu559Pro) c.369T>C (p.Pro123=) c.1352T>C (p.Leu451Pro) n.511T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481068A>T | CA354412527 | GATA2 | c.1394T>A (p.Leu465His) c.1676T>A (p.Leu559His) c.369T>A (p.Pro123=) c.1352T>A (p.Leu451His) n.511T>A | |
| 3 | g.128481069G>A | CA354412528 | GATA2 | c.1393C>T (p.Leu465Phe) c.1675C>T (p.Leu559Phe) c.368C>T (p.Pro123Leu) c.1351C>T (p.Leu451Phe) n.510C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481069G>C | CA354412530 | GATA2 | c.1393C>G (p.Leu465Val) c.1675C>G (p.Leu559Val) c.368C>G (p.Pro123Arg) c.1351C>G (p.Leu451Val) n.510C>G | |
| 3 | g.128481069G= | CA1400713788 | GATA2 | c.1393C= (p.Leu465=) c.1675C= (p.Leu559=) c.368C= (p.Pro123=) c.1351C= (p.Leu451=) n.510C= | |
| 3 | g.128481069G>T | CA354412531 | GATA2 | c.1393C>A (p.Leu465Ile) c.1675C>A (p.Leu559Ile) c.368C>A (p.Pro123His) c.1351C>A (p.Leu451Ile) n.510C>A | |
| 3 | g.128481070G>A | CA435524321 | GATA2 | c.1392C>T (p.Ser464=) c.1674C>T (p.Ser558=) c.367C>T (p.Pro123Ser) c.1350C>T (p.Ser450=) n.509C>T | |
| 3 | g.128481070G>C | CA354412532 | GATA2 | c.1392C>G (p.Ser464Arg) c.1674C>G (p.Ser558Arg) c.367C>G (p.Pro123Ala) c.1350C>G (p.Ser450Arg) n.509C>G | |
| 3 | g.128481070G>T | CA354412533 | GATA2 | c.1392C>A (p.Ser464Arg) c.1674C>A (p.Ser558Arg) c.367C>A (p.Pro123Thr) c.1350C>A (p.Ser450Arg) n.509C>A | COSMIC |
| 3 | g.128481071C>A | CA2599779 | GATA2 | c.1391G>T (p.Ser464Ile) c.1673G>T (p.Ser558Ile) c.366G>T (p.Gln122His) c.1349G>T (p.Ser450Ile) n.508G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481071C= | CA1400713794 | GATA2 | c.1391G= (p.Ser464=) c.1673G= (p.Ser558=) c.366G= (p.Gln122=) c.1349G= (p.Ser450=) n.508G= | |
| 3 | g.128481071C>G | CA354412536 | GATA2 | c.1391G>C (p.Ser464Thr) c.1673G>C (p.Ser558Thr) c.366G>C (p.Gln122His) c.1349G>C (p.Ser450Thr) n.508G>C | |
| 3 | g.128481071C>T | CA354412537 | GATA2 | c.1391G>A (p.Ser464Asn) c.1673G>A (p.Ser558Asn) c.366G>A (p.Gln122=) c.1349G>A (p.Ser450Asn) n.508G>A | |
| 3 | g.128481072T>A | CA354412542 | GATA2 | c.1390A>T (p.Ser464Cys) c.1672A>T (p.Ser558Cys) c.365A>T (p.Gln122Leu) c.1348A>T (p.Ser450Cys) n.507A>T | |
| 3 | g.128481072T>C | CA354412540 | GATA2 | c.1390A>G (p.Ser464Gly) c.1672A>G (p.Ser558Gly) c.365A>G (p.Gln122Arg) c.1348A>G (p.Ser450Gly) n.507A>G | |
| 3 | g.128481072T>G | CA354412539 | GATA2 | c.1390A>C (p.Ser464Arg) c.1672A>C (p.Ser558Arg) c.365A>C (p.Gln122Pro) c.1348A>C (p.Ser450Arg) n.507A>C | |
| 3 | g.128481073G>A | CA435524327 | GATA2 | c.1389C>T (p.Ser463=) c.1671C>T (p.Ser557=) c.364C>T (p.Gln122Ter) c.1347C>T (p.Ser449=) n.506C>T | |
| 3 | g.128481073G>C | CA435524328 | GATA2 | c.1389C>G (p.Ser463=) c.1671C>G (p.Ser557=) c.364C>G (p.Gln122Glu) c.1347C>G (p.Ser449=) n.506C>G | |
| 3 | g.128481073G>T | CA435524330 | GATA2 | c.1389C>A (p.Ser463=) c.1671C>A (p.Ser557=) c.364C>A (p.Gln122Lys) c.1347C>A (p.Ser449=) n.506C>A | |
| 3 | g.128481074G>A | CA354412544 | GATA2 | c.1388C>T (p.Ser463Phe) c.1670C>T (p.Ser557Phe) c.363C>T (p.Leu121=) c.1346C>T (p.Ser449Phe) n.505C>T | |
| 3 | g.128481074G>C | CA354412545 | GATA2 | c.1388C>G (p.Ser463Cys) c.1670C>G (p.Ser557Cys) c.363C>G (p.Leu121=) c.1346C>G (p.Ser449Cys) n.505C>G | |
| 3 | g.128481074G>T | CA354412547 | GATA2 | c.1388C>A (p.Ser463Tyr) c.1670C>A (p.Ser557Tyr) c.363C>A (p.Leu121=) c.1346C>A (p.Ser449Tyr) n.505C>A | gnomAD v4 |
| 3 | g.128481074_128481078delinsGAGGA | CA1400713799 | GATA2 | c.1384_1388delinsTCCTC (p.Ser462=) c.1666_1670delinsTCCTC (p.Ser556=) c.359_363delinsTCCTC (p.Leu120=) c.1342_1346delinsTCCTC (p.Ser448=) n.501_505delinsTCCTC | |
| 3 | g.128481075A= | CA1400713804 | GATA2 | c.1387T= (p.Ser463=) c.1669T= (p.Ser557=) c.362T= (p.Leu121=) c.1345T= (p.Ser449=) n.504T= | |
| 3 | g.128481075A>C | CA354412549 | GATA2 | c.1387T>G (p.Ser463Ala) c.1669T>G (p.Ser557Ala) c.362T>G (p.Leu121Arg) c.1345T>G (p.Ser449Ala) n.504T>G | |
| 3 | g.128481075A>G | CA2599781 | GATA2 | c.1387T>C (p.Ser463Pro) c.1669T>C (p.Ser557Pro) c.362T>C (p.Leu121Pro) c.1345T>C (p.Ser449Pro) n.504T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481075A>T | CA354412551 | GATA2 | c.1387T>A (p.Ser463Thr) c.1669T>A (p.Ser557Thr) c.362T>A (p.Leu121His) c.1345T>A (p.Ser449Thr) n.504T>A | |
| 3 | g.128481075_128481078del | CA2599780 | GATA2 | c.1384_1387del (p.Ser462ProfsTer14) c.1666_1669del (p.Ser556ProfsTer14) c.359_362del (p.Leu120ProfsTer19) c.1342_1345del (p.Ser448ProfsTer14) n.501_504del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481076G>A | CA16611167 | GATA2 | c.1386C>T (p.Ser462=) c.1668C>T (p.Ser556=) c.361C>T (p.Leu121Phe) c.1344C>T (p.Ser448=) n.503C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481076G>C | CA435524336 | GATA2 | c.1386C>G (p.Ser462=) c.1668C>G (p.Ser556=) c.361C>G (p.Leu121Val) c.1344C>G (p.Ser448=) n.503C>G | |
| 3 | g.128481076G= | CA1400713809 | GATA2 | c.1386C= (p.Ser462=) c.1668C= (p.Ser556=) c.361C= (p.Leu121=) c.1344C= (p.Ser448=) n.503C= | |
| 3 | g.128481076G>T | CA435524338 | GATA2 | c.1386C>A (p.Ser462=) c.1668C>A (p.Ser556=) c.361C>A (p.Leu121Ile) c.1344C>A (p.Ser448=) n.503C>A | |
| 3 | g.128481077G>A | CA354412554 | GATA2 | c.1385C>T (p.Ser462Phe) c.1667C>T (p.Ser556Phe) c.360C>T (p.Leu120=) c.1343C>T (p.Ser448Phe) n.502C>T | COSMIC |
| 3 | g.128481077G>C | CA354412555 | GATA2 | c.1385C>G (p.Ser462Cys) c.1667C>G (p.Ser556Cys) c.360C>G (p.Leu120=) c.1343C>G (p.Ser448Cys) n.502C>G | |
| 3 | g.128481077G= | CA1400713815 | GATA2 | c.1385C= (p.Ser462=) c.1667C= (p.Ser556=) c.360C= (p.Leu120=) c.1343C= (p.Ser448=) n.502C= | |
| 3 | g.128481077G>T | CA354412557 | GATA2 | c.1385C>A (p.Ser462Tyr) c.1667C>A (p.Ser556Tyr) c.360C>A (p.Leu120=) c.1343C>A (p.Ser448Tyr) n.502C>A | ClinVar dbSNP |
| 3 | g.128481078A= | CA1400713820 | GATA2 | c.1384T= (p.Ser462=) c.1666T= (p.Ser556=) c.359T= (p.Leu120=) c.1342T= (p.Ser448=) n.501T= | |
| 3 | g.128481078A>C | CA354412558 | GATA2 | c.1384T>G (p.Ser462Ala) c.1666T>G (p.Ser556Ala) c.359T>G (p.Leu120Arg) c.1342T>G (p.Ser448Ala) n.501T>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481078A>G | CA2599782 | GATA2 | c.1384T>C (p.Ser462Pro) c.1666T>C (p.Ser556Pro) c.359T>C (p.Leu120Pro) c.1342T>C (p.Ser448Pro) n.501T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481078A>T | CA354412567 | GATA2 | c.1384T>A (p.Ser462Thr) c.1666T>A (p.Ser556Thr) c.359T>A (p.Leu120His) c.1342T>A (p.Ser448Thr) n.501T>A | |
| 3 | g.128481079G>A | CA435524343 | GATA2 | c.1383C>T (p.Pro461=) c.1665C>T (p.Pro555=) c.358C>T (p.Leu120Phe) c.1341C>T (p.Pro447=) n.500C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128481079G>C | CA435524345 | GATA2 | c.1383C>G (p.Pro461=) c.1665C>G (p.Pro555=) c.358C>G (p.Leu120Val) c.1341C>G (p.Pro447=) n.500C>G | |
| 3 | g.128481079G= | CA1400713825 | GATA2 | c.1383C= (p.Pro461=) c.1665C= (p.Pro555=) c.358C= (p.Leu120=) c.1341C= (p.Pro447=) n.500C= | |
| 3 | g.128481079G>T | CA435524346 | GATA2 | c.1383C>A (p.Pro461=) c.1665C>A (p.Pro555=) c.358C>A (p.Leu120Ile) c.1341C>A (p.Pro447=) n.500C>A | gnomAD v4 |
| 3 | g.128481080G>A | CA354412570 | GATA2 | c.1382C>T (p.Pro461Leu) c.1664C>T (p.Pro555Leu) c.357C>T (p.Pro119=) c.1340C>T (p.Pro447Leu) n.499C>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481080G>C | CA354412572 | GATA2 | c.1382C>G (p.Pro461Arg) c.1664C>G (p.Pro555Arg) c.357C>G (p.Pro119=) c.1340C>G (p.Pro447Arg) n.499C>G | dbSNP |
| 3 | g.128481080G= | CA1400713828 | GATA2 | c.1382C= (p.Pro461=) c.1664C= (p.Pro555=) c.357C= (p.Pro119=) c.1340C= (p.Pro447=) n.499C= | |
| 3 | g.128481080G>T | CA354412569 | GATA2 | c.1382C>A (p.Pro461His) c.1664C>A (p.Pro555His) c.357C>A (p.Pro119=) c.1340C>A (p.Pro447His) n.499C>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481081G>A | CA354412577 | GATA2 | c.1381C>T (p.Pro461Ser) c.1663C>T (p.Pro555Ser) c.356C>T (p.Pro119Leu) c.1339C>T (p.Pro447Ser) n.498C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481081G>C | CA354412574 | GATA2 | c.1381C>G (p.Pro461Ala) c.1663C>G (p.Pro555Ala) c.356C>G (p.Pro119Arg) c.1339C>G (p.Pro447Ala) n.498C>G | dbSNP gnomAD v4 |
| 3 | g.128481081G= | CA1400713832 | GATA2 | c.1381C= (p.Pro461=) c.1663C= (p.Pro555=) c.356C= (p.Pro119=) c.1339C= (p.Pro447=) n.498C= | |
| 3 | g.128481081G>T | CA354412575 | GATA2 | c.1381C>A (p.Pro461Thr) c.1663C>A (p.Pro555Thr) c.356C>A (p.Pro119His) c.1339C>A (p.Pro447Thr) n.498C>A | |
| 3 | g.128481082G>A | CA83376197 | GATA2 | c.1380C>T (p.His460=) c.1662C>T (p.His554=) c.355C>T (p.Pro119Ser) c.1338C>T (p.His446=) n.497C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481082G>C | CA354412578 | GATA2 | c.1380C>G (p.His460Gln) c.1662C>G (p.His554Gln) c.355C>G (p.Pro119Ala) c.1338C>G (p.His446Gln) n.497C>G | |
| 3 | g.128481082G= | CA1400713835 | GATA2 | c.1380C= (p.His460=) c.1662C= (p.His554=) c.355C= (p.Pro119=) c.1338C= (p.His446=) n.497C= | |
| 3 | g.128481082G>T | CA354412579 | GATA2 | c.1380C>A (p.His460Gln) c.1662C>A (p.His554Gln) c.355C>A (p.Pro119Thr) c.1338C>A (p.His446Gln) n.497C>A | |
| 3 | g.128481083T>A | CA354412580 | GATA2 | c.1379A>T (p.His460Leu) c.1661A>T (p.His554Leu) c.354A>T (p.Pro118=) c.1337A>T (p.His446Leu) n.496A>T | |
| 3 | g.128481083T>C | CA354412582 | GATA2 | c.1379A>G (p.His460Arg) c.1661A>G (p.His554Arg) c.354A>G (p.Pro118=) c.1337A>G (p.His446Arg) n.496A>G | |
| 3 | g.128481083T>G | CA2599783 | GATA2 | c.1379A>C (p.His460Pro) c.1661A>C (p.His554Pro) c.354A>C (p.Pro118=) c.1337A>C (p.His446Pro) n.496A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481083T= | CA1400713840 | GATA2 | c.1379A= (p.His460=) c.1661A= (p.His554=) c.354A= (p.Pro118=) c.1337A= (p.His446=) n.496A= | |
| 3 | g.128481084G>A | CA354412583 | GATA2 | c.1378C>T (p.His460Tyr) c.1660C>T (p.His554Tyr) c.353C>T (p.Pro118Leu) c.1336C>T (p.His446Tyr) n.495C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481084G>C | CA354412584 | GATA2 | c.1378C>G (p.His460Asp) c.1660C>G (p.His554Asp) c.353C>G (p.Pro118Arg) c.1336C>G (p.His446Asp) n.495C>G | |
| 3 | g.128481084G= | CA1400713842 | GATA2 | c.1378C= (p.His460=) c.1660C= (p.His554=) c.353C= (p.Pro118=) c.1336C= (p.His446=) n.495C= | |
| 3 | g.128481084G>T | CA354412586 | GATA2 | c.1378C>A (p.His460Asn) c.1660C>A (p.His554Asn) c.353C>A (p.Pro118Gln) c.1336C>A (p.His446Asn) n.495C>A | |
| 3 | g.128481085G>A | CA435524357 | GATA2 | c.1377C>T (p.Ile459=) c.1659C>T (p.Ile553=) c.352C>T (p.Pro118Ser) c.1335C>T (p.Ile445=) n.494C>T | dbSNP gnomAD v4 |
| 3 | g.128481085G>C | CA354412588 | GATA2 | c.1377C>G (p.Ile459Met) c.1659C>G (p.Ile553Met) c.352C>G (p.Pro118Ala) c.1335C>G (p.Ile445Met) n.494C>G | |
| 3 | g.128481085G= | CA1400713845 | GATA2 | c.1377C= (p.Ile459=) c.1659C= (p.Ile553=) c.352C= (p.Pro118=) c.1335C= (p.Ile445=) n.494C= | |
| 3 | g.128481085G>T | CA435524359 | GATA2 | c.1377C>A (p.Ile459=) c.1659C>A (p.Ile553=) c.352C>A (p.Pro118Thr) c.1335C>A (p.Ile445=) n.494C>A | gnomAD v4 |
| 3 | g.128481086A= | CA1400713854 | GATA2 | c.1376T= (p.Ile459=) c.1658T= (p.Ile553=) c.351T= (p.His117=) c.1334T= (p.Ile445=) n.493T= | |
| 3 | g.128481086A>C | CA354412591 | GATA2 | c.1376T>G (p.Ile459Ser) c.1658T>G (p.Ile553Ser) c.351T>G (p.His117Gln) c.1334T>G (p.Ile445Ser) n.493T>G | |
| 3 | g.128481086A>G | CA2599784 | GATA2 | c.1376T>C (p.Ile459Thr) c.1658T>C (p.Ile553Thr) c.351T>C (p.His117=) c.1334T>C (p.Ile445Thr) n.493T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481086A>T | CA2599785 | GATA2 | c.1376T>A (p.Ile459Asn) c.1658T>A (p.Ile553Asn) c.351T>A (p.His117Gln) c.1334T>A (p.Ile445Asn) n.493T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481086_128481087del | CA2758339636 | GATA2 | c.1375_1376del (p.Ile459ProfsTer?) c.1657_1658del (p.Ile553ProfsTer?) c.350_351del (p.His117ProfsTer18) c.1333_1334del (p.Ile445ProfsTer?) n.492_493del | |
| 3 | g.128481087T>A | CA354412593 | GATA2 | c.1375A>T (p.Ile459Phe) c.1657A>T (p.Ile553Phe) c.350A>T (p.His117Leu) c.1333A>T (p.Ile445Phe) n.492A>T | |
| 3 | g.128481087T>C | CA354412595 | GATA2 | c.1375A>G (p.Ile459Val) c.1657A>G (p.Ile553Val) c.350A>G (p.His117Arg) c.1333A>G (p.Ile445Val) n.492A>G | |
| 3 | g.128481087T>G | CA354412596 | GATA2 | c.1375A>C (p.Ile459Leu) c.1657A>C (p.Ile553Leu) c.350A>C (p.His117Pro) c.1333A>C (p.Ile445Leu) n.492A>C | dbSNP |
| 3 | g.128481088G>A | CA435524364 | GATA2 | c.1374C>T (p.Pro458=) c.1656C>T (p.Pro552=) c.349C>T (p.His117Tyr) c.1332C>T (p.Pro444=) n.491C>T | ClinVar dbSNP |
| 3 | g.128481088G>C | CA435524365 | GATA2 | c.1374C>G (p.Pro458=) c.1656C>G (p.Pro552=) c.349C>G (p.His117Asp) c.1332C>G (p.Pro444=) n.491C>G | |
| 3 | g.128481088G>T | CA435524367 | GATA2 | c.1374C>A (p.Pro458=) c.1656C>A (p.Pro552=) c.349C>A (p.His117Asn) c.1332C>A (p.Pro444=) n.491C>A | COSMIC |
| 3 | g.128481089G>A | CA354412598 | GATA2 | c.1373C>T (p.Pro458Leu) c.1655C>T (p.Pro552Leu) c.348C>T (p.Ala116=) c.1331C>T (p.Pro444Leu) n.490C>T | ClinVar dbSNP |
| 3 | g.128481089G>C | CA354412599 | GATA2 | c.1373C>G (p.Pro458Arg) c.1655C>G (p.Pro552Arg) c.348C>G (p.Ala116=) c.1331C>G (p.Pro444Arg) n.490C>G | |
| 3 | g.128481089G>T | CA354412601 | GATA2 | c.1373C>A (p.Pro458His) c.1655C>A (p.Pro552His) c.348C>A (p.Ala116=) c.1331C>A (p.Pro444His) n.490C>A | |
| 3 | g.128481090G>A | CA354412602 | GATA2 | c.1372C>T (p.Pro458Ser) c.1654C>T (p.Pro552Ser) c.347C>T (p.Ala116Val) c.1330C>T (p.Pro444Ser) n.489C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481090G>C | CA354412604 | GATA2 | c.1372C>G (p.Pro458Ala) c.1654C>G (p.Pro552Ala) c.347C>G (p.Ala116Gly) c.1330C>G (p.Pro444Ala) n.489C>G | |
| 3 | g.128481090G= | CA1400713858 | GATA2 | c.1372C= (p.Pro458=) c.1654C= (p.Pro552=) c.347C= (p.Ala116=) c.1330C= (p.Pro444=) n.489C= | |
| 3 | g.128481090G>T | CA354412606 | GATA2 | c.1372C>A (p.Pro458Thr) c.1654C>A (p.Pro552Thr) c.347C>A (p.Ala116Asp) c.1330C>A (p.Pro444Thr) n.489C>A | |
| 3 | g.128481091C>A | CA435524373 | GATA2 | c.1371G>T (p.Thr457=) c.1653G>T (p.Thr551=) c.346G>T (p.Ala116Ser) c.1329G>T (p.Thr443=) n.488G>T | |
| 3 | g.128481091C= | CA1400713865 | GATA2 | c.1371G= (p.Thr457=) c.1653G= (p.Thr551=) c.346G= (p.Ala116=) c.1329G= (p.Thr443=) n.488G= | |
| 3 | g.128481091C>G | CA2599786 | GATA2 | c.1371G>C (p.Thr457=) c.1653G>C (p.Thr551=) c.346G>C (p.Ala116Pro) c.1329G>C (p.Thr443=) n.488G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481091C>T | CA83376204 | GATA2 | c.1371G>A (p.Thr457=) c.1653G>A (p.Thr551=) c.346G>A (p.Ala116Thr) c.1329G>A (p.Thr443=) n.488G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481092G>A | CA2599787 | GATA2 | c.1370C>T (p.Thr457Met) c.1652C>T (p.Thr551Met) c.345C>T (p.Asp115=) c.1328C>T (p.Thr443Met) n.487C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481092G>C | CA354412609 | GATA2 | c.1370C>G (p.Thr457Arg) c.1652C>G (p.Thr551Arg) c.345C>G (p.Asp115Glu) c.1328C>G (p.Thr443Arg) n.487C>G | |
| 3 | g.128481092G= | CA1400713872 | GATA2 | c.1370C= (p.Thr457=) c.1652C= (p.Thr551=) c.345C= (p.Asp115=) c.1328C= (p.Thr443=) n.487C= | |
| 3 | g.128481092G>T | CA354412610 | GATA2 | c.1370C>A (p.Thr457Lys) c.1652C>A (p.Thr551Lys) c.345C>A (p.Asp115Glu) c.1328C>A (p.Thr443Lys) n.487C>A | ClinVar dbSNP |
| 3 | g.128481093T>A | CA354412614 | GATA2 | c.1369A>T (p.Thr457Ser) c.1651A>T (p.Thr551Ser) c.344A>T (p.Asp115Val) c.1327A>T (p.Thr443Ser) n.486A>T | ClinVar |
| 3 | g.128481093T>C | CA354412615 | GATA2 | c.1369A>G (p.Thr457Ala) c.1651A>G (p.Thr551Ala) c.344A>G (p.Asp115Gly) c.1327A>G (p.Thr443Ala) n.486A>G | |
| 3 | g.128481093T>G | CA354412612 | GATA2 | c.1369A>C (p.Thr457Pro) c.1651A>C (p.Thr551Pro) c.344A>C (p.Asp115Ala) c.1327A>C (p.Thr443Pro) n.486A>C | |
| 3 | g.128481094C>A | CA435524379 | GATA2 | c.1368G>T (p.Pro456=) c.1650G>T (p.Pro550=) c.343G>T (p.Asp115Tyr) c.1326G>T (p.Pro442=) n.485G>T | ClinVar |
| 3 | g.128481094C= | CA1400713883 | GATA2 | c.1368G= (p.Pro456=) c.1650G= (p.Pro550=) c.343G= (p.Asp115=) c.1326G= (p.Pro442=) n.485G= | |
| 3 | g.128481094C>G | CA435524380 | GATA2 | c.1368G>C (p.Pro456=) c.1650G>C (p.Pro550=) c.343G>C (p.Asp115His) c.1326G>C (p.Pro442=) n.485G>C | ClinVar dbSNP |
| 3 | g.128481094C>T | CA2599788 | GATA2 | c.1368G>A (p.Pro456=) c.1650G>A (p.Pro550=) c.343G>A (p.Asp115Asn) c.1326G>A (p.Pro442=) n.485G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481102_128481121del | CA2758339639 | GATA2 | c.1349_1368del (p.Gly450AspfsTer?) c.1631_1650del (p.Gly544AspfsTer?) c.324_343del (p.Thr109ArgfsTer20) c.1307_1326del (p.Gly436AspfsTer?) n.466_485del | |
| 3 | g.128481095G>A | CA2599789 | GATA2 | c.1367C>T (p.Pro456Leu) c.1649C>T (p.Pro550Leu) c.342C>T (p.Ser114=) c.1325C>T (p.Pro442Leu) n.484C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481095G>C | CA354412617 | GATA2 | c.1367C>G (p.Pro456Arg) c.1649C>G (p.Pro550Arg) c.342C>G (p.Ser114=) c.1325C>G (p.Pro442Arg) n.484C>G | |
| 3 | g.128481095G= | CA1400713891 | GATA2 | c.1367C= (p.Pro456=) c.1649C= (p.Pro550=) c.342C= (p.Ser114=) c.1325C= (p.Pro442=) n.484C= | |
| 3 | g.128481095G>T | CA354412618 | GATA2 | c.1367C>A (p.Pro456Gln) c.1649C>A (p.Pro550Gln) c.342C>A (p.Ser114=) c.1325C>A (p.Pro442Gln) n.484C>A | |
| 3 | g.128481096G>A | CA354412620 | GATA2 | c.1366C>T (p.Pro456Ser) c.1648C>T (p.Pro550Ser) c.341C>T (p.Ser114Phe) c.1324C>T (p.Pro442Ser) n.483C>T | ClinVar dbSNP |
| 3 | g.128481096G>C | CA354412621 | GATA2 | c.1366C>G (p.Pro456Ala) c.1648C>G (p.Pro550Ala) c.341C>G (p.Ser114Cys) c.1324C>G (p.Pro442Ala) n.483C>G | |
| 3 | g.128481096G= | CA1400713896 | GATA2 | c.1366C= (p.Pro456=) c.1648C= (p.Pro550=) c.341C= (p.Ser114=) c.1324C= (p.Pro442=) n.483C= | |
| 3 | g.128481096G>T | CA354412622 | GATA2 | c.1366C>A (p.Pro456Thr) c.1648C>A (p.Pro550Thr) c.341C>A (p.Ser114Tyr) c.1324C>A (p.Pro442Thr) n.483C>A | |
| 3 | g.128481097A>C | CA435524386 | GATA2 | c.1365T>G (p.Thr455=) c.1647T>G (p.Thr549=) c.340T>G (p.Ser114Ala) c.1323T>G (p.Thr441=) n.482T>G | |
| 3 | g.128481097A>G | CA435524388 | GATA2 | c.1365T>C (p.Thr455=) c.1647T>C (p.Thr549=) c.340T>C (p.Ser114Pro) c.1323T>C (p.Thr441=) n.482T>C | |
| 3 | g.128481097A>T | CA435524390 | GATA2 | c.1365T>A (p.Thr455=) c.1647T>A (p.Thr549=) c.340T>A (p.Ser114Thr) c.1323T>A (p.Thr441=) n.482T>A | |
| 3 | g.128481098G>A | CA2599790 | GATA2 | c.1364C>T (p.Thr455Ile) c.1646C>T (p.Thr549Ile) c.339C>T (p.His113=) c.1322C>T (p.Thr441Ile) n.481C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481098G>C | CA354412625 | GATA2 | c.1364C>G (p.Thr455Ser) c.1646C>G (p.Thr549Ser) c.339C>G (p.His113Gln) c.1322C>G (p.Thr441Ser) n.481C>G | |
| 3 | g.128481098G= | CA1400713899 | GATA2 | c.1364C= (p.Thr455=) c.1646C= (p.Thr549=) c.339C= (p.His113=) c.1322C= (p.Thr441=) n.481C= | |
| 3 | g.128481098G>T | CA354412626 | GATA2 | c.1364C>A (p.Thr455Asn) c.1646C>A (p.Thr549Asn) c.339C>A (p.His113Gln) c.1322C>A (p.Thr441Asn) n.481C>A | |
| 3 | g.128481099T>A | CA354412627 | GATA2 | c.1363A>T (p.Thr455Ser) c.1645A>T (p.Thr549Ser) c.338A>T (p.His113Leu) c.1321A>T (p.Thr441Ser) n.480A>T | |
| 3 | g.128481099T>C | CA354412629 | GATA2 | c.1363A>G (p.Thr455Ala) c.1645A>G (p.Thr549Ala) c.338A>G (p.His113Arg) c.1321A>G (p.Thr441Ala) n.480A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481099T>G | CA2599791 | GATA2 | c.1363A>C (p.Thr455Pro) c.1645A>C (p.Thr549Pro) c.338A>C (p.His113Pro) c.1321A>C (p.Thr441Pro) n.480A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481099T= | CA1400713902 | GATA2 | c.1363A= (p.Thr455=) c.1645A= (p.Thr549=) c.338A= (p.His113=) c.1321A= (p.Thr441=) n.480A= | |
| 3 | g.128481100G>A | CA435524395 | GATA2 | c.1362C>T (p.Pro454=) c.1644C>T (p.Pro548=) c.337C>T (p.His113Tyr) c.1320C>T (p.Pro440=) n.479C>T | dbSNP |
| 3 | g.128481100G>C | CA435524397 | GATA2 | c.1362C>G (p.Pro454=) c.1644C>G (p.Pro548=) c.337C>G (p.His113Asp) c.1320C>G (p.Pro440=) n.479C>G | |
| 3 | g.128481100G= | CA1400713904 | GATA2 | c.1362C= (p.Pro454=) c.1644C= (p.Pro548=) c.337C= (p.His113=) c.1320C= (p.Pro440=) n.479C= | |
| 3 | g.128481100G>T | CA435524398 | GATA2 | c.1362C>A (p.Pro454=) c.1644C>A (p.Pro548=) c.337C>A (p.His113Asn) c.1320C>A (p.Pro440=) n.479C>A | |
| 3 | g.128481101G>A | CA354412634 | GATA2 | c.1361C>T (p.Pro454Leu) c.1643C>T (p.Pro548Leu) c.336C>T (p.Ala112=) c.1319C>T (p.Pro440Leu) n.478C>T | |
| 3 | g.128481101G>C | CA354412633 | GATA2 | c.1361C>G (p.Pro454Arg) c.1643C>G (p.Pro548Arg) c.336C>G (p.Ala112=) c.1319C>G (p.Pro440Arg) n.478C>G | |
| 3 | g.128481101G= | CA1400713907 | GATA2 | c.1361C= (p.Pro454=) c.1643C= (p.Pro548=) c.336C= (p.Ala112=) c.1319C= (p.Pro440=) n.478C= | |
| 3 | g.128481101G>T | CA354412632 | GATA2 | c.1361C>A (p.Pro454His) c.1643C>A (p.Pro548His) c.336C>A (p.Ala112=) c.1319C>A (p.Pro440His) n.478C>A | ClinVar dbSNP |
| 3 | g.128481102G>A | CA2599792 | GATA2 | c.1360C>T (p.Pro454Ser) c.1642C>T (p.Pro548Ser) c.335C>T (p.Ala112Val) c.1318C>T (p.Pro440Ser) n.477C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481102G>C | CA354412637 | GATA2 | c.1360C>G (p.Pro454Ala) c.1642C>G (p.Pro548Ala) c.335C>G (p.Ala112Gly) c.1318C>G (p.Pro440Ala) n.477C>G | |
| 3 | g.128481102G= | CA1400713910 | GATA2 | c.1360C= (p.Pro454=) c.1642C= (p.Pro548=) c.335C= (p.Ala112=) c.1318C= (p.Pro440=) n.477C= | |
| 3 | g.128481102G>T | CA354412638 | GATA2 | c.1360C>A (p.Pro454Thr) c.1642C>A (p.Pro548Thr) c.335C>A (p.Ala112Asp) c.1318C>A (p.Pro440Thr) n.477C>A | ClinVar dbSNP |
| 3 | g.128481103C>A | CA435524403 | GATA2 | c.1359G>T (p.Leu453=) c.1641G>T (p.Leu547=) c.334G>T (p.Ala112Ser) c.1317G>T (p.Leu439=) n.476G>T | ClinVar dbSNP |
| 3 | g.128481103C= | CA1400713917 | GATA2 | c.1359G= (p.Leu453=) c.1641G= (p.Leu547=) c.334G= (p.Ala112=) c.1317G= (p.Leu439=) n.476G= | |
| 3 | g.128481103C>G | CA435524405 | GATA2 | c.1359G>C (p.Leu453=) c.1641G>C (p.Leu547=) c.334G>C (p.Ala112Pro) c.1317G>C (p.Leu439=) n.476G>C | dbSNP |
| 3 | g.128481103C>T | CA10582132 | GATA2 | c.1359G>A (p.Leu453=) c.1641G>A (p.Leu547=) c.334G>A (p.Ala112Thr) c.1317G>A (p.Leu439=) n.476G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481104A>C | CA354412640 | GATA2 | c.1358T>G (p.Leu453Arg) c.1640T>G (p.Leu547Arg) c.333T>G (p.Pro111=) c.1316T>G (p.Leu439Arg) n.475T>G | |
| 3 | g.128481104A>G | CA354412642 | GATA2 | c.1358T>C (p.Leu453Pro) c.1640T>C (p.Leu547Pro) c.333T>C (p.Pro111=) c.1316T>C (p.Leu439Pro) n.475T>C | |
| 3 | g.128481104A>T | CA354412643 | GATA2 | c.1358T>A (p.Leu453Gln) c.1640T>A (p.Leu547Gln) c.333T>A (p.Pro111=) c.1316T>A (p.Leu439Gln) n.475T>A | |
| 3 | g.128481105G>A | CA435524408 | GATA2 | c.1357C>T (p.Leu453=) c.1639C>T (p.Leu547=) c.332C>T (p.Pro111Leu) c.1315C>T (p.Leu439=) n.474C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481105G>C | CA354412645 | GATA2 | c.1357C>G (p.Leu453Val) c.1639C>G (p.Leu547Val) c.332C>G (p.Pro111Arg) c.1315C>G (p.Leu439Val) n.474C>G | |
| 3 | g.128481105G>T | CA354412646 | GATA2 | c.1357C>A (p.Leu453Met) c.1639C>A (p.Leu547Met) c.332C>A (p.Pro111His) c.1315C>A (p.Leu439Met) n.474C>A | |
| 3 | g.128481106G>A | CA435524410 | GATA2 | c.1356C>T (p.Ile452=) c.1638C>T (p.Ile546=) c.331C>T (p.Pro111Ser) c.1314C>T (p.Ile438=) n.473C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481106G>C | CA354412648 | GATA2 | c.1356C>G (p.Ile452Met) c.1638C>G (p.Ile546Met) c.331C>G (p.Pro111Ala) c.1314C>G (p.Ile438Met) n.473C>G | ClinVar |
| 3 | g.128481106G= | CA1400713920 | GATA2 | c.1356C= (p.Ile452=) c.1638C= (p.Ile546=) c.331C= (p.Pro111=) c.1314C= (p.Ile438=) n.473C= | |
| 3 | g.128481106G>T | CA435524411 | GATA2 | c.1356C>A (p.Ile452=) c.1638C>A (p.Ile546=) c.331C>A (p.Pro111Thr) c.1314C>A (p.Ile438=) n.473C>A | gnomAD v4 |
| 3 | g.128481107A>C | CA354412650 | GATA2 | c.1355T>G (p.Ile452Ser) c.1637T>G (p.Ile546Ser) c.330T>G (p.His110Gln) c.1313T>G (p.Ile438Ser) n.472T>G | |
| 3 | g.128481107A>G | CA354412651 | GATA2 | c.1355T>C (p.Ile452Thr) c.1637T>C (p.Ile546Thr) c.330T>C (p.His110=) c.1313T>C (p.Ile438Thr) n.472T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481107A>T | CA354412653 | GATA2 | c.1355T>A (p.Ile452Asn) c.1637T>A (p.Ile546Asn) c.330T>A (p.His110Gln) c.1313T>A (p.Ile438Asn) n.472T>A | |
| 3 | g.128481108T>A | CA354412657 | GATA2 | c.1354A>T (p.Ile452Phe) c.1636A>T (p.Ile546Phe) c.329A>T (p.His110Leu) c.1312A>T (p.Ile438Phe) n.471A>T | |
| 3 | g.128481108T>C | CA354412656 | GATA2 | c.1354A>G (p.Ile452Val) c.1636A>G (p.Ile546Val) c.329A>G (p.His110Arg) c.1312A>G (p.Ile438Val) n.471A>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481108T>G | CA354412654 | GATA2 | c.1354A>C (p.Ile452Leu) c.1636A>C (p.Ile546Leu) c.329A>C (p.His110Pro) c.1312A>C (p.Ile438Leu) n.471A>C | |
| 3 | g.128481108T= | CA1400713923 | GATA2 | c.1354A= (p.Ile452=) c.1636A= (p.Ile546=) c.329A= (p.His110=) c.1312A= (p.Ile438=) n.471A= | |
| 3 | g.128481109G>A | CA435524417 | GATA2 | c.1353C>T (p.His451=) c.1635C>T (p.His545=) c.328C>T (p.His110Tyr) c.1311C>T (p.His437=) n.470C>T | gnomAD v4 |
| 3 | g.128481109G>C | CA354412658 | GATA2 | c.1353C>G (p.His451Gln) c.1635C>G (p.His545Gln) c.328C>G (p.His110Asp) c.1311C>G (p.His437Gln) n.470C>G | |
| 3 | g.128481109G>T | CA354412660 | GATA2 | c.1353C>A (p.His451Gln) c.1635C>A (p.His545Gln) c.328C>A (p.His110Asn) c.1311C>A (p.His437Gln) n.470C>A |