| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 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 |