| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 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 | |
| 3 | g.128481110T>A | CA354412662 | GATA2 | c.1352A>T (p.His451Leu) c.1634A>T (p.His545Leu) c.327A>T (p.Thr109=) c.1310A>T (p.His437Leu) n.469A>T | |
| 3 | g.128481110T>C | CA354412663 | GATA2 | c.1352A>G (p.His451Arg) c.1634A>G (p.His545Arg) c.327A>G (p.Thr109=) c.1310A>G (p.His437Arg) n.469A>G | gnomAD v4 |
| 3 | g.128481110T>G | CA354412665 | GATA2 | c.1352A>C (p.His451Pro) c.1634A>C (p.His545Pro) c.327A>C (p.Thr109=) c.1310A>C (p.His437Pro) n.469A>C | ClinVar |
| 3 | g.128481111G>A | CA354412666 | GATA2 | c.1351C>T (p.His451Tyr) c.1633C>T (p.His545Tyr) c.326C>T (p.Thr109Ile) c.1309C>T (p.His437Tyr) n.468C>T | dbSNP gnomAD v4 |
| 3 | g.128481111G>C | CA354412667 | GATA2 | c.1351C>G (p.His451Asp) c.1633C>G (p.His545Asp) c.326C>G (p.Thr109Arg) c.1309C>G (p.His437Asp) n.468C>G | dbSNP |
| 3 | g.128481111G>T | CA354412668 | GATA2 | c.1351C>A (p.His451Asn) c.1633C>A (p.His545Asn) c.326C>A (p.Thr109Lys) c.1309C>A (p.His437Asn) n.468C>A | |
| 3 | g.128481112T>A | CA435524423 | GATA2 | c.1350A>T (p.Gly450=) c.1632A>T (p.Gly544=) c.325A>T (p.Thr109Ser) c.1308A>T (p.Gly436=) n.467A>T | ClinVar dbSNP |
| 3 | g.128481112T>C | CA435524425 | GATA2 | c.1350A>G (p.Gly450=) c.1632A>G (p.Gly544=) c.325A>G (p.Thr109Ala) c.1308A>G (p.Gly436=) n.467A>G | |
| 3 | g.128481112T>G | CA435524427 | GATA2 | c.1350A>C (p.Gly450=) c.1632A>C (p.Gly544=) c.325A>C (p.Thr109Pro) c.1308A>C (p.Gly436=) n.467A>C | |
| 3 | g.128481112T= | CA1400713927 | GATA2 | c.1350A= (p.Gly450=) c.1632A= (p.Gly544=) c.325A= (p.Thr109=) c.1308A= (p.Gly436=) n.467A= | |
| 3 | g.128481113C>A | CA354412670 | GATA2 | c.1349G>T (p.Gly450Val) c.1631G>T (p.Gly544Val) c.324G>T (p.Arg108=) c.1307G>T (p.Gly436Val) n.466G>T | |
| 3 | g.128481113C>G | CA354412673 | GATA2 | c.1349G>C (p.Gly450Ala) c.1631G>C (p.Gly544Ala) c.324G>C (p.Arg108=) c.1307G>C (p.Gly436Ala) n.466G>C | dbSNP |
| 3 | g.128481113C>T | CA354412672 | GATA2 | c.1349G>A (p.Gly450Glu) c.1631G>A (p.Gly544Glu) c.324G>A (p.Arg108=) c.1307G>A (p.Gly436Glu) n.466G>A | |
| 3 | g.128481114C>A | CA354412675 | GATA2 | c.1348G>T (p.Gly450Ter) c.1630G>T (p.Gly544Ter) c.323G>T (p.Arg108Leu) c.1306G>T (p.Gly436Ter) n.465G>T | |
| 3 | g.128481114C= | CA1400713931 | GATA2 | c.1348G= (p.Gly450=) c.1630G= (p.Gly544=) c.323G= (p.Arg108=) c.1306G= (p.Gly436=) n.465G= | |
| 3 | g.128481114C>G | CA354412676 | GATA2 | c.1348G>C (p.Gly450Arg) c.1630G>C (p.Gly544Arg) c.323G>C (p.Arg108Pro) c.1306G>C (p.Gly436Arg) n.465G>C | dbSNP |
| 3 | g.128481114C>T | CA2599793 | GATA2 | c.1348G>A (p.Gly450Arg) c.1630G>A (p.Gly544Arg) c.323G>A (p.Arg108Gln) c.1306G>A (p.Gly436Arg) n.465G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481115G>A | CA2599795 | GATA2 | c.1347C>T (p.Ser449=) c.1629C>T (p.Ser543=) c.322C>T (p.Arg108Trp) c.1305C>T (p.Ser435=) n.464C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481115G>C | CA435524432 | GATA2 | c.1347C>G (p.Ser449=) c.1629C>G (p.Ser543=) c.322C>G (p.Arg108Gly) c.1305C>G (p.Ser435=) n.464C>G | ClinVar |
| 3 | g.128481115G= | CA1400713937 | GATA2 | c.1347C= (p.Ser449=) c.1629C= (p.Ser543=) c.322C= (p.Arg108=) c.1305C= (p.Ser435=) n.464C= | |
| 3 | g.128481115G>T | CA2599794 | GATA2 | c.1347C>A (p.Ser449=) c.1629C>A (p.Ser543=) c.322C>A (p.Arg108=) c.1305C>A (p.Ser435=) n.464C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481116G>A | CA354412680 | GATA2 | c.1346C>T (p.Ser449Phe) c.1628C>T (p.Ser543Phe) c.321C>T (p.Leu107=) c.1304C>T (p.Ser435Phe) n.463C>T | |
| 3 | g.128481116G>C | CA354412683 | GATA2 | c.1346C>G (p.Ser449Cys) c.1628C>G (p.Ser543Cys) c.321C>G (p.Leu107=) c.1304C>G (p.Ser435Cys) n.463C>G | |
| 3 | g.128481116G>T | CA354412681 | GATA2 | c.1346C>A (p.Ser449Tyr) c.1628C>A (p.Ser543Tyr) c.321C>A (p.Leu107=) c.1304C>A (p.Ser435Tyr) n.463C>A | |
| 3 | g.128481117A>C | CA354412684 | GATA2 | c.1345T>G (p.Ser449Ala) c.1627T>G (p.Ser543Ala) c.320T>G (p.Leu107Arg) c.1303T>G (p.Ser435Ala) n.462T>G | |
| 3 | g.128481117A>G | CA354412686 | GATA2 | c.1345T>C (p.Ser449Pro) c.1627T>C (p.Ser543Pro) c.320T>C (p.Leu107Pro) c.1303T>C (p.Ser435Pro) n.462T>C | |
| 3 | g.128481117A>T | CA354412687 | GATA2 | c.1345T>A (p.Ser449Thr) c.1627T>A (p.Ser543Thr) c.320T>A (p.Leu107His) c.1303T>A (p.Ser435Thr) n.462T>A | |
| 3 | g.128481118G>A | CA435524438 | GATA2 | c.1344C>T (p.His448=) c.1626C>T (p.His542=) c.319C>T (p.Leu107Phe) c.1302C>T (p.His434=) n.461C>T | COSMIC |
| 3 | g.128481118G>C | CA354412689 | GATA2 | c.1344C>G (p.His448Gln) c.1626C>G (p.His542Gln) c.319C>G (p.Leu107Val) c.1302C>G (p.His434Gln) n.461C>G | |
| 3 | g.128481118G>T | CA354412690 | GATA2 | c.1344C>A (p.His448Gln) c.1626C>A (p.His542Gln) c.319C>A (p.Leu107Ile) c.1302C>A (p.His434Gln) n.461C>A | |
| 3 | g.128481119T>A | CA354412692 | GATA2 | c.1343A>T (p.His448Leu) c.1625A>T (p.His542Leu) c.318A>T (p.Pro106=) c.1301A>T (p.His434Leu) n.460A>T | |
| 3 | g.128481119T>C | CA354412693 | GATA2 | c.1343A>G (p.His448Arg) c.1625A>G (p.His542Arg) c.318A>G (p.Pro106=) c.1301A>G (p.His434Arg) n.460A>G | gnomAD v4 |
| 3 | g.128481119T>G | CA354412695 | GATA2 | c.1343A>C (p.His448Pro) c.1625A>C (p.His542Pro) c.318A>C (p.Pro106=) c.1301A>C (p.His434Pro) n.460A>C | |
| 3 | g.128481120G>A | CA354412697 | GATA2 | c.1342C>T (p.His448Tyr) c.1624C>T (p.His542Tyr) c.317C>T (p.Pro106Leu) c.1300C>T (p.His434Tyr) n.459C>T | gnomAD v4 |
| 3 | g.128481120G>C | CA354412699 | GATA2 | c.1342C>G (p.His448Asp) c.1624C>G (p.His542Asp) c.317C>G (p.Pro106Arg) c.1300C>G (p.His434Asp) n.459C>G | |
| 3 | g.128481120G>T | CA354412700 | GATA2 | c.1342C>A (p.His448Asn) c.1624C>A (p.His542Asn) c.317C>A (p.Pro106Gln) c.1300C>A (p.His434Asn) n.459C>A | |
| 3 | g.128481121del | CA2577890672 | GATA2 | c.1342del (p.His448ThrfsTer29) c.1624del (p.His542ThrfsTer29) c.317del (p.Pro106HisfsTer?) c.1300del (p.His434ThrfsTer29) n.459del | |
| 3 | g.128481121G>A | CA435524445 | GATA2 | c.1341C>T (p.Ser447=) c.1623C>T (p.Ser541=) c.316C>T (p.Pro106Ser) c.1299C>T (p.Ser433=) n.458C>T | ClinVar dbSNP |
| 3 | g.128481121G>C | CA354412702 | GATA2 | c.1341C>G (p.Ser447Arg) c.1623C>G (p.Ser541Arg) c.316C>G (p.Pro106Ala) c.1299C>G (p.Ser433Arg) n.458C>G | ClinVar |
| 3 | g.128481121G= | CA1400713944 | GATA2 | c.1341C= (p.Ser447=) c.1623C= (p.Ser541=) c.316C= (p.Pro106=) c.1299C= (p.Ser433=) n.458C= | |
| 3 | g.128481121G>T | CA354412703 | GATA2 | c.1341C>A (p.Ser447Arg) c.1623C>A (p.Ser541Arg) c.316C>A (p.Pro106Thr) c.1299C>A (p.Ser433Arg) n.458C>A | ClinVar dbSNP gnomAD v2 |
| 3 | g.128481122C>A | CA2599796 | GATA2 | c.1340G>T (p.Ser447Ile) c.1622G>T (p.Ser541Ile) c.315G>T (p.Gln105His) c.1298G>T (p.Ser433Ile) n.457G>T | dbSNP ExAC gnomAD v4 |
| 3 | g.128481122C= | CA1400713948 | GATA2 | c.1340G= (p.Ser447=) c.1622G= (p.Ser541=) c.315G= (p.Gln105=) c.1298G= (p.Ser433=) n.457G= | |
| 3 | g.128481122C>G | CA354412707 | GATA2 | c.1340G>C (p.Ser447Thr) c.1622G>C (p.Ser541Thr) c.315G>C (p.Gln105His) c.1298G>C (p.Ser433Thr) n.457G>C | dbSNP |
| 3 | g.128481122C>T | CA354412706 | GATA2 | c.1340G>A (p.Ser447Asn) c.1622G>A (p.Ser541Asn) c.315G>A (p.Gln105=) c.1298G>A (p.Ser433Asn) n.457G>A | |
| 3 | g.128481123T>A | CA354412709 | GATA2 | c.1339A>T (p.Ser447Cys) c.1621A>T (p.Ser541Cys) c.314A>T (p.Gln105Leu) c.1297A>T (p.Ser433Cys) n.456A>T | |
| 3 | g.128481123T>C | CA354412710 | GATA2 | c.1339A>G (p.Ser447Gly) c.1621A>G (p.Ser541Gly) c.314A>G (p.Gln105Arg) c.1297A>G (p.Ser433Gly) n.456A>G | ClinVar |
| 3 | g.128481123T>G | CA354412712 | GATA2 | c.1339A>C (p.Ser447Arg) c.1621A>C (p.Ser541Arg) c.314A>C (p.Gln105Pro) c.1297A>C (p.Ser433Arg) n.456A>C | ClinVar dbSNP |
| 3 | g.128481123T= | CA1400713951 | GATA2 | c.1339A= (p.Ser447=) c.1621A= (p.Ser541=) c.314A= (p.Gln105=) c.1297A= (p.Ser433=) n.456A= | |
| 3 | g.128481124G>A | CA435524452 | GATA2 | c.1338C>T (p.Phe446=) c.1620C>T (p.Phe540=) c.313C>T (p.Gln105Ter) c.1296C>T (p.Phe432=) n.455C>T | dbSNP gnomAD v4 |
| 3 | g.128481124G>C | CA354412713 | GATA2 | c.1338C>G (p.Phe446Leu) c.1620C>G (p.Phe540Leu) c.313C>G (p.Gln105Glu) c.1296C>G (p.Phe432Leu) n.455C>G | |
| 3 | g.128481124G>T | CA354412715 | GATA2 | c.1338C>A (p.Phe446Leu) c.1620C>A (p.Phe540Leu) c.313C>A (p.Gln105Lys) c.1296C>A (p.Phe432Leu) n.455C>A | ClinVar |
| 3 | g.128481125A= | CA1400713955 | GATA2 | c.1337T= (p.Phe446=) c.1619T= (p.Phe540=) c.312T= (p.Leu104=) c.1295T= (p.Phe432=) n.454T= | |
| 3 | g.128481125A>C | CA354412720 | GATA2 | c.1337T>G (p.Phe446Cys) c.1619T>G (p.Phe540Cys) c.312T>G (p.Leu104=) c.1295T>G (p.Phe432Cys) n.454T>G | |
| 3 | g.128481125A>G | CA354412718 | GATA2 | c.1337T>C (p.Phe446Ser) c.1619T>C (p.Phe540Ser) c.312T>C (p.Leu104=) c.1295T>C (p.Phe432Ser) n.454T>C | |
| 3 | g.128481125A>T | CA354412716 | GATA2 | c.1337T>A (p.Phe446Tyr) c.1619T>A (p.Phe540Tyr) c.312T>A (p.Leu104=) c.1295T>A (p.Phe432Tyr) n.454T>A | ClinVar dbSNP |
| 3 | g.128481126A>C | CA354412721 | GATA2 | c.1336T>G (p.Phe446Val) c.1618T>G (p.Phe540Val) c.311T>G (p.Leu104Arg) c.1294T>G (p.Phe432Val) n.453T>G | |
| 3 | g.128481126A>G | CA354412722 | GATA2 | c.1336T>C (p.Phe446Leu) c.1618T>C (p.Phe540Leu) c.311T>C (p.Leu104Pro) c.1294T>C (p.Phe432Leu) n.453T>C | |
| 3 | g.128481126A>T | CA354412723 | GATA2 | c.1336T>A (p.Phe446Ile) c.1618T>A (p.Phe540Ile) c.311T>A (p.Leu104His) c.1294T>A (p.Phe432Ile) n.453T>A | |
| 3 | g.128481127G>A | CA435524458 | GATA2 | c.1335C>T (p.Pro445=) c.1617C>T (p.Pro539=) c.310C>T (p.Leu104Phe) c.1293C>T (p.Pro431=) n.452C>T | dbSNP gnomAD v4 |
| 3 | g.128481127G>C | CA435524459 | GATA2 | c.1335C>G (p.Pro445=) c.1617C>G (p.Pro539=) c.310C>G (p.Leu104Val) c.1293C>G (p.Pro431=) n.452C>G | |
| 3 | g.128481127G>T | CA435524461 | GATA2 | c.1335C>A (p.Pro445=) c.1617C>A (p.Pro539=) c.310C>A (p.Leu104Ile) c.1293C>A (p.Pro431=) n.452C>A | |
| 3 | g.128481128G>A | CA83376225 | GATA2 | c.1334C>T (p.Pro445Leu) c.1616C>T (p.Pro539Leu) c.309C>T (p.Ala103=) c.1292C>T (p.Pro431Leu) n.451C>T | ClinVar dbSNP |
| 3 | g.128481128G>C | CA354412724 | GATA2 | c.1334C>G (p.Pro445Arg) c.1616C>G (p.Pro539Arg) c.309C>G (p.Ala103=) c.1292C>G (p.Pro431Arg) n.451C>G | |
| 3 | g.128481128G= | CA1400713957 | GATA2 | c.1334C= (p.Pro445=) c.1616C= (p.Pro539=) c.309C= (p.Ala103=) c.1292C= (p.Pro431=) n.451C= | |
| 3 | g.128481128G>T | CA354412725 | GATA2 | c.1334C>A (p.Pro445His) c.1616C>A (p.Pro539His) c.309C>A (p.Ala103=) c.1292C>A (p.Pro431His) n.451C>A | |
| 3 | g.128481129G>A | CA354412727 | GATA2 | c.1333C>T (p.Pro445Ser) c.1615C>T (p.Pro539Ser) c.308C>T (p.Ala103Val) c.1291C>T (p.Pro431Ser) n.450C>T | |
| 3 | g.128481129G>C | CA354412730 | GATA2 | c.1333C>G (p.Pro445Ala) c.1615C>G (p.Pro539Ala) c.308C>G (p.Ala103Gly) c.1291C>G (p.Pro431Ala) n.450C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481129G= | CA1400713959 | GATA2 | c.1333C= (p.Pro445=) c.1615C= (p.Pro539=) c.308C= (p.Ala103=) c.1291C= (p.Pro431=) n.450C= | |
| 3 | g.128481129G>T | CA354412729 | GATA2 | c.1333C>A (p.Pro445Thr) c.1615C>A (p.Pro539Thr) c.308C>A (p.Ala103Asp) c.1291C>A (p.Pro431Thr) n.450C>A | |
| 3 | g.128481130C>A | CA435524466 | GATA2 | c.1332G>T (p.Pro444=) c.1614G>T (p.Pro538=) c.307G>T (p.Ala103Ser) c.1290G>T (p.Pro430=) n.449G>T | gnomAD v4 |
| 3 | g.128481130C= | CA1400713964 | GATA2 | c.1332G= (p.Pro444=) c.1614G= (p.Pro538=) c.307G= (p.Ala103=) c.1290G= (p.Pro430=) n.449G= | |
| 3 | g.128481130C>G | CA435524468 | GATA2 | c.1332G>C (p.Pro444=) c.1614G>C (p.Pro538=) c.307G>C (p.Ala103Pro) c.1290G>C (p.Pro430=) n.449G>C | dbSNP |
| 3 | g.128481130C>T | CA2599797 | GATA2 | c.1332G>A (p.Pro444=) c.1614G>A (p.Pro538=) c.307G>A (p.Ala103Thr) c.1290G>A (p.Pro430=) n.449G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128481131G>A | CA2599798 | GATA2 | c.1331C>T (p.Pro444Leu) c.1613C>T (p.Pro538Leu) c.306C>T (p.Pro102=) c.1289C>T (p.Pro430Leu) n.448C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481131G>C | CA354412733 | GATA2 | c.1331C>G (p.Pro444Arg) c.1613C>G (p.Pro538Arg) c.306C>G (p.Pro102=) c.1289C>G (p.Pro430Arg) n.448C>G | ClinVar |
| 3 | g.128481131G= | CA1400713969 | GATA2 | c.1331C= (p.Pro444=) c.1613C= (p.Pro538=) c.306C= (p.Pro102=) c.1289C= (p.Pro430=) n.448C= | |
| 3 | g.128481131G>T | CA354412735 | GATA2 | c.1331C>A (p.Pro444Gln) c.1613C>A (p.Pro538Gln) c.306C>A (p.Pro102=) c.1289C>A (p.Pro430Gln) n.448C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481132G>A | CA2599799 | GATA2 | c.1330C>T (p.Pro444Ser) c.1612C>T (p.Pro538Ser) c.305C>T (p.Pro102Leu) c.1288C>T (p.Pro430Ser) n.447C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481132G>C | CA354412737 | GATA2 | c.1330C>G (p.Pro444Ala) c.1612C>G (p.Pro538Ala) c.305C>G (p.Pro102Arg) c.1288C>G (p.Pro430Ala) n.447C>G | |
| 3 | g.128481132G= | CA1400713974 | GATA2 | c.1330C= (p.Pro444=) c.1612C= (p.Pro538=) c.305C= (p.Pro102=) c.1288C= (p.Pro430=) n.447C= | |
| 3 | g.128481132G>T | CA354412739 | GATA2 | c.1330C>A (p.Pro444Thr) c.1612C>A (p.Pro538Thr) c.305C>A (p.Pro102His) c.1288C>A (p.Pro430Thr) n.447C>A | |
| 3 | g.128481133G>A | CA435524472 | GATA2 | c.1329C>T (p.Leu443=) c.1611C>T (p.Leu537=) c.304C>T (p.Pro102Ser) c.1287C>T (p.Leu429=) n.446C>T | |
| 3 | g.128481133G>C | CA435524474 | GATA2 | c.1329C>G (p.Leu443=) c.1611C>G (p.Leu537=) c.304C>G (p.Pro102Ala) c.1287C>G (p.Leu429=) n.446C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481133G= | CA1400713979 | GATA2 | c.1329C= (p.Leu443=) c.1611C= (p.Leu537=) c.304C= (p.Pro102=) c.1287C= (p.Leu429=) n.446C= | |
| 3 | g.128481133G>T | CA2599800 | GATA2 | c.1329C>A (p.Leu443=) c.1611C>A (p.Leu537=) c.304C>A (p.Pro102Thr) c.1287C>A (p.Leu429=) n.446C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481134A>C | CA354412741 | GATA2 | c.1328T>G (p.Leu443Arg) c.1610T>G (p.Leu537Arg) c.303T>G (p.Pro101=) c.1286T>G (p.Leu429Arg) n.445T>G | |
| 3 | g.128481134A>G | CA354412742 | GATA2 | c.1328T>C (p.Leu443Pro) c.1610T>C (p.Leu537Pro) c.303T>C (p.Pro101=) c.1286T>C (p.Leu429Pro) n.445T>C | |
| 3 | g.128481134A>T | CA354412744 | GATA2 | c.1328T>A (p.Leu443His) c.1610T>A (p.Leu537His) c.303T>A (p.Pro101=) c.1286T>A (p.Leu429His) n.445T>A | |
| 3 | g.128481135G>A | CA354412746 | GATA2 | c.1327C>T (p.Leu443Phe) c.1609C>T (p.Leu537Phe) c.302C>T (p.Pro101Leu) c.1285C>T (p.Leu429Phe) n.444C>T | |
| 3 | g.128481135G>C | CA354412749 | GATA2 | c.1327C>G (p.Leu443Val) c.1609C>G (p.Leu537Val) c.302C>G (p.Pro101Arg) c.1285C>G (p.Leu429Val) n.444C>G | |
| 3 | g.128481135G>T | CA354412747 | GATA2 | c.1327C>A (p.Leu443Ile) c.1609C>A (p.Leu537Ile) c.302C>A (p.Pro101His) c.1285C>A (p.Leu429Ile) n.444C>A | COSMIC |
| 3 | g.128481135_128481140del | CA2703922380 | GATA2 | c.1322_1327del (p.Gly441_Leu443delinsVal) c.1604_1609del (p.Gly535_Leu537delinsVal) c.297_302del (p.Pro100_Pro101del) c.1280_1285del (p.Gly427_Leu429delinsVal) n.439_444del | dbSNP |
| 3 | g.128481136G>A | CA10614764 | GATA2 | c.1326C>T (p.His442=) c.1608C>T (p.His536=) c.301C>T (p.Pro101Ser) c.1284C>T (p.His428=) n.443C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481136G>C | CA354412752 | GATA2 | c.1326C>G (p.His442Gln) c.1608C>G (p.His536Gln) c.301C>G (p.Pro101Ala) c.1284C>G (p.His428Gln) n.443C>G | |
| 3 | g.128481136G= | CA1400713985 | GATA2 | c.1326C= (p.His442=) c.1608C= (p.His536=) c.301C= (p.Pro101=) c.1284C= (p.His428=) n.443C= | |
| 3 | g.128481136G>T | CA354412750 | GATA2 | c.1326C>A (p.His442Gln) c.1608C>A (p.His536Gln) c.301C>A (p.Pro101Thr) c.1284C>A (p.His428Gln) n.443C>A | |
| 3 | g.128481137T>A | CA354412756 | GATA2 | c.1325A>T (p.His442Leu) c.1607A>T (p.His536Leu) c.300A>T (p.Pro100=) c.1283A>T (p.His428Leu) n.442A>T | |
| 3 | g.128481137T>C | CA354412758 | GATA2 | c.1325A>G (p.His442Arg) c.1607A>G (p.His536Arg) c.300A>G (p.Pro100=) c.1283A>G (p.His428Arg) n.442A>G | ClinVar |
| 3 | g.128481137T>G | CA83376238 | GATA2 | c.1325A>C (p.His442Pro) c.1607A>C (p.His536Pro) c.300A>C (p.Pro100=) c.1283A>C (p.His428Pro) n.442A>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481137T= | CA1400713988 | GATA2 | c.1325A= (p.His442=) c.1607A= (p.His536=) c.300A= (p.Pro100=) c.1283A= (p.His428=) n.442A= | |
| 3 | g.128481137_128481140dup | CA915940816 | GATA2 | c.1322_1325dup (p.His442GlnfsTer?) c.1604_1607dup (p.His536GlnfsTer?) c.297_300dup (p.Pro101AlafsTer?) c.1280_1283dup (p.His428GlnfsTer?) n.439_442dup | ClinVar dbSNP |
| 3 | g.128481138G>A | CA354412761 | GATA2 | c.1324C>T (p.His442Tyr) c.1606C>T (p.His536Tyr) c.299C>T (p.Pro100Leu) c.1282C>T (p.His428Tyr) n.441C>T | |
| 3 | g.128481138G>C | CA354412763 | GATA2 | c.1324C>G (p.His442Asp) c.1606C>G (p.His536Asp) c.299C>G (p.Pro100Arg) c.1282C>G (p.His428Asp) n.441C>G | |
| 3 | g.128481138G>T | CA354412764 | GATA2 | c.1324C>A (p.His442Asn) c.1606C>A (p.His536Asn) c.299C>A (p.Pro100Gln) c.1282C>A (p.His428Asn) n.441C>A | |
| 3 | g.128481139G>A | CA435524485 | GATA2 | c.1323C>T (p.Gly441=) c.1605C>T (p.Gly535=) c.298C>T (p.Pro100Ser) c.1281C>T (p.Gly427=) n.440C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481139G>C | CA435524487 | GATA2 | c.1323C>G (p.Gly441=) c.1605C>G (p.Gly535=) c.298C>G (p.Pro100Ala) c.1281C>G (p.Gly427=) n.440C>G | |
| 3 | g.128481139G= | CA1400713995 | GATA2 | c.1323C= (p.Gly441=) c.1605C= (p.Gly535=) c.298C= (p.Pro100=) c.1281C= (p.Gly427=) n.440C= | |
| 3 | g.128481139G>T | CA435524488 | GATA2 | c.1323C>A (p.Gly441=) c.1605C>A (p.Gly535=) c.298C>A (p.Pro100Thr) c.1281C>A (p.Gly427=) n.440C>A | gnomAD v4 |
| 3 | g.128481140C>A | CA354412765 | GATA2 | c.1322G>T (p.Gly441Val) c.1604G>T (p.Gly535Val) c.297G>T (p.Gly99=) c.1280G>T (p.Gly427Val) n.439G>T | dbSNP |
| 3 | g.128481140C>G | CA354412767 | GATA2 | c.1322G>C (p.Gly441Ala) c.1604G>C (p.Gly535Ala) c.297G>C (p.Gly99=) c.1280G>C (p.Gly427Ala) n.439G>C | dbSNP |
| 3 | g.128481140C>T | CA354412768 | GATA2 | c.1322G>A (p.Gly441Asp) c.1604G>A (p.Gly535Asp) c.297G>A (p.Gly99=) c.1280G>A (p.Gly427Asp) n.439G>A | dbSNP gnomAD v4 |
| 3 | g.128481141C>A | CA354412770 | GATA2 | c.1321G>T (p.Gly441Cys) c.1603G>T (p.Gly535Cys) c.296G>T (p.Gly99Val) c.1279G>T (p.Gly427Cys) n.438G>T | dbSNP |
| 3 | g.128481141C>G | CA354412772 | GATA2 | c.1321G>C (p.Gly441Arg) c.1603G>C (p.Gly535Arg) c.296G>C (p.Gly99Ala) c.1279G>C (p.Gly427Arg) n.438G>C | |
| 3 | g.128481141C>T | CA354412773 | GATA2 | c.1321G>A (p.Gly441Ser) c.1603G>A (p.Gly535Ser) c.296G>A (p.Gly99Glu) c.1279G>A (p.Gly427Ser) n.438G>A | gnomAD v4 |
| 3 | g.128481142C>A | CA435524493 | GATA2 | c.1320G>T (p.Val440=) c.1602G>T (p.Val534=) c.295G>T (p.Gly99Trp) c.1278G>T (p.Val426=) n.437G>T | |
| 3 | g.128481142C= | CA1400714000 | GATA2 | c.1320G= (p.Val440=) c.1602G= (p.Val534=) c.295G= (p.Gly99=) c.1278G= (p.Val426=) n.437G= | |
| 3 | g.128481142C>G | CA435524494 | GATA2 | c.1320G>C (p.Val440=) c.1602G>C (p.Val534=) c.295G>C (p.Gly99Arg) c.1278G>C (p.Val426=) n.437G>C | |
| 3 | g.128481142C>T | CA2599801 | GATA2 | c.1320G>A (p.Val440=) c.1602G>A (p.Val534=) c.295G>A (p.Gly99Arg) c.1278G>A (p.Val426=) n.437G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481143A>C | CA354412776 | GATA2 | c.1319T>G (p.Val440Gly) c.1601T>G (p.Val534Gly) c.294T>G (p.Cys98Trp) c.1277T>G (p.Val426Gly) n.436T>G | |
| 3 | g.128481143A>G | CA354412777 | GATA2 | c.1319T>C (p.Val440Ala) c.1601T>C (p.Val534Ala) c.294T>C (p.Cys98=) c.1277T>C (p.Val426Ala) n.436T>C | |
| 3 | g.128481143A>T | CA354412779 | GATA2 | c.1319T>A (p.Val440Glu) c.1601T>A (p.Val534Glu) c.294T>A (p.Cys98Ter) c.1277T>A (p.Val426Glu) n.436T>A | |
| 3 | g.128481144C>A | CA354412780 | GATA2 | c.1318G>T (p.Val440Leu) c.1600G>T (p.Val534Leu) c.293G>T (p.Cys98Phe) c.1276G>T (p.Val426Leu) n.435G>T | |
| 3 | g.128481144C= | CA1400714004 | GATA2 | c.1318G= (p.Val440=) c.1600G= (p.Val534=) c.293G= (p.Cys98=) c.1276G= (p.Val426=) n.435G= | |
| 3 | g.128481144C>G | CA354412781 | GATA2 | c.1318G>C (p.Val440Leu) c.1600G>C (p.Val534Leu) c.293G>C (p.Cys98Ser) c.1276G>C (p.Val426Leu) n.435G>C | |
| 3 | g.128481144C>T | CA83376241 | GATA2 | c.1318G>A (p.Val440Met) c.1600G>A (p.Val534Met) c.293G>A (p.Cys98Tyr) c.1276G>A (p.Val426Met) n.435G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481145A>C | CA435524500 | GATA2 | c.1317T>G (p.Pro439=) c.1599T>G (p.Pro533=) c.292T>G (p.Cys98Gly) c.1275T>G (p.Pro425=) n.434T>G | |
| 3 | g.128481145A>G | CA435524502 | GATA2 | c.1317T>C (p.Pro439=) c.1599T>C (p.Pro533=) c.292T>C (p.Cys98Arg) c.1275T>C (p.Pro425=) n.434T>C | |
| 3 | g.128481145A>T | CA435524504 | GATA2 | c.1317T>A (p.Pro439=) c.1599T>A (p.Pro533=) c.292T>A (p.Cys98Ser) c.1275T>A (p.Pro425=) n.434T>A | dbSNP |
| 3 | g.128481146G>A | CA2599802 | GATA2 | c.1316C>T (p.Pro439Leu) c.1598C>T (p.Pro533Leu) c.291C>T (p.Thr97=) c.1274C>T (p.Pro425Leu) n.433C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481146G>C | CA354412783 | GATA2 | c.1316C>G (p.Pro439Arg) c.1598C>G (p.Pro533Arg) c.291C>G (p.Thr97=) c.1274C>G (p.Pro425Arg) n.433C>G | dbSNP |
| 3 | g.128481146G= | CA1400714011 | GATA2 | c.1316C= (p.Pro439=) c.1598C= (p.Pro533=) c.291C= (p.Thr97=) c.1274C= (p.Pro425=) n.433C= | |
| 3 | g.128481146G>T | CA354412784 | GATA2 | c.1316C>A (p.Pro439His) c.1598C>A (p.Pro533His) c.291C>A (p.Thr97=) c.1274C>A (p.Pro425His) n.433C>A | ClinVar |
| 3 | g.128481147G>A | CA354412785 | GATA2 | c.1315C>T (p.Pro439Ser) c.1597C>T (p.Pro533Ser) c.290C>T (p.Thr97Ile) c.1273C>T (p.Pro425Ser) n.432C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481147G>C | CA354412786 | GATA2 | c.1315C>G (p.Pro439Ala) c.1597C>G (p.Pro533Ala) c.290C>G (p.Thr97Ser) c.1273C>G (p.Pro425Ala) n.432C>G | dbSNP |
| 3 | g.128481147G= | CA1400714015 | GATA2 | c.1315C= (p.Pro439=) c.1597C= (p.Pro533=) c.290C= (p.Thr97=) c.1273C= (p.Pro425=) n.432C= | |
| 3 | g.128481147G>T | CA354412787 | GATA2 | c.1315C>A (p.Pro439Thr) c.1597C>A (p.Pro533Thr) c.290C>A (p.Thr97Asn) c.1273C>A (p.Pro425Thr) n.432C>A | |
| 3 | g.128481148T>A | CA435524510 | GATA2 | c.1314A>T (p.Ala438=) c.1596A>T (p.Ala532=) c.289A>T (p.Thr97Ser) c.1272A>T (p.Ala424=) n.431A>T | |
| 3 | g.128481148T>C | CA435524512 | GATA2 | c.1314A>G (p.Ala438=) c.1596A>G (p.Ala532=) c.289A>G (p.Thr97Ala) c.1272A>G (p.Ala424=) n.431A>G | |
| 3 | g.128481148T>G | CA435524514 | GATA2 | c.1314A>C (p.Ala438=) c.1596A>C (p.Ala532=) c.289A>C (p.Thr97Pro) c.1272A>C (p.Ala424=) n.431A>C | dbSNP |
| 3 | g.128481148T= | CA1400714017 | GATA2 | c.1314A= (p.Ala438=) c.1596A= (p.Ala532=) c.289A= (p.Thr97=) c.1272A= (p.Ala424=) n.431A= | |
| 3 | g.128481149G>A | CA354412789 | GATA2 | c.1313C>T (p.Ala438Val) c.1595C>T (p.Ala532Val) c.288C>T (p.Gly96=) c.1271C>T (p.Ala424Val) n.430C>T | dbSNP |
| 3 | g.128481149G>C | CA354412790 | GATA2 | c.1313C>G (p.Ala438Gly) c.1595C>G (p.Ala532Gly) c.288C>G (p.Gly96=) c.1271C>G (p.Ala424Gly) n.430C>G | |
| 3 | g.128481149G>T | CA354412788 | GATA2 | c.1313C>A (p.Ala438Glu) c.1595C>A (p.Ala532Glu) c.288C>A (p.Gly96=) c.1271C>A (p.Ala424Glu) n.430C>A | |
| 3 | g.128481150C>A | CA2599803 | GATA2 | c.1312G>T (p.Ala438Ser) c.1594G>T (p.Ala532Ser) c.287G>T (p.Gly96Val) c.1270G>T (p.Ala424Ser) n.429G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481150C= | CA1400714020 | GATA2 | c.1312G= (p.Ala438=) c.1594G= (p.Ala532=) c.287G= (p.Gly96=) c.1270G= (p.Ala424=) n.429G= | |
| 3 | g.128481150C>G | CA354412791 | GATA2 | c.1312G>C (p.Ala438Pro) c.1594G>C (p.Ala532Pro) c.287G>C (p.Gly96Ala) c.1270G>C (p.Ala424Pro) n.429G>C | |
| 3 | g.128481150C>T | CA354412792 | GATA2 | c.1312G>A (p.Ala438Thr) c.1594G>A (p.Ala532Thr) c.287G>A (p.Gly96Asp) c.1270G>A (p.Ala424Thr) n.429G>A | dbSNP |
| 3 | g.128481151dup | CA2667540266 | GATA2 | c.1312dup (p.Ala438GlyfsTer?) c.1594dup (p.Ala532GlyfsTer?) c.287dup (p.Thr97HisfsTer?) c.1270dup (p.Ala424GlyfsTer?) n.429dup | gnomAD v4 |
| 3 | g.128481151C>A | CA354412793 | GATA2 | c.1311G>T (p.Met437Ile) c.1593G>T (p.Met531Ile) c.286G>T (p.Gly96Cys) c.1269G>T (p.Met423Ile) n.428G>T | |
| 3 | g.128481151C= | CA1400714025 | GATA2 | c.1311G= (p.Met437=) c.1593G= (p.Met531=) c.286G= (p.Gly96=) c.1269G= (p.Met423=) n.428G= | |
| 3 | g.128481151C>G | CA354412794 | GATA2 | c.1311G>C (p.Met437Ile) c.1593G>C (p.Met531Ile) c.286G>C (p.Gly96Arg) c.1269G>C (p.Met423Ile) n.428G>C | |
| 3 | g.128481151C>T | CA354412795 | GATA2 | c.1311G>A (p.Met437Ile) c.1593G>A (p.Met531Ile) c.286G>A (p.Gly96Ser) c.1269G>A (p.Met423Ile) n.428G>A | dbSNP |
| 3 | g.128481152A>C | CA354412798 | GATA2 | c.1310T>G (p.Met437Arg) c.1592T>G (p.Met531Arg) c.285T>G (p.His95Gln) c.1268T>G (p.Met423Arg) n.427T>G | |
| 3 | g.128481152A>G | CA354412796 | GATA2 | c.1310T>C (p.Met437Thr) c.1592T>C (p.Met531Thr) c.285T>C (p.His95=) c.1268T>C (p.Met423Thr) n.427T>C | |
| 3 | g.128481152A>T | CA354412797 | GATA2 | c.1310T>A (p.Met437Lys) c.1592T>A (p.Met531Lys) c.285T>A (p.His95Gln) c.1268T>A (p.Met423Lys) n.427T>A | |
| 3 | g.128481153T>A | CA354412799 | GATA2 | c.1309A>T (p.Met437Leu) c.1591A>T (p.Met531Leu) c.284A>T (p.His95Leu) c.1267A>T (p.Met423Leu) n.426A>T | |
| 3 | g.128481153T>C | CA354412800 | GATA2 | c.1309A>G (p.Met437Val) c.1591A>G (p.Met531Val) c.284A>G (p.His95Arg) c.1267A>G (p.Met423Val) n.426A>G | gnomAD v4 |
| 3 | g.128481153T>G | CA354412801 | GATA2 | c.1309A>C (p.Met437Leu) c.1591A>C (p.Met531Leu) c.284A>C (p.His95Pro) c.1267A>C (p.Met423Leu) n.426A>C | dbSNP |
| 3 | g.128481153T= | CA1400714029 | GATA2 | c.1309A= (p.Met437=) c.1591A= (p.Met531=) c.284A= (p.His95=) c.1267A= (p.Met423=) n.426A= | |
| 3 | g.128481154G>A | CA435524527 | GATA2 | c.1308C>T (p.His436=) c.1590C>T (p.His530=) c.283C>T (p.His95Tyr) c.1266C>T (p.His422=) n.425C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481154G>C | CA354412802 | GATA2 | c.1308C>G (p.His436Gln) c.1590C>G (p.His530Gln) c.283C>G (p.His95Asp) c.1266C>G (p.His422Gln) n.425C>G | |
| 3 | g.128481154G= | CA1400714031 | GATA2 | c.1308C= (p.His436=) c.1590C= (p.His530=) c.283C= (p.His95=) c.1266C= (p.His422=) n.425C= | |
| 3 | g.128481154G>T | CA354412803 | GATA2 | c.1308C>A (p.His436Gln) c.1590C>A (p.His530Gln) c.283C>A (p.His95Asn) c.1266C>A (p.His422Gln) n.425C>A | |
| 3 | g.128481155T>A | CA354412804 | GATA2 | c.1307A>T (p.His436Leu) c.1589A>T (p.His530Leu) c.282A>T (p.Thr94=) c.1265A>T (p.His422Leu) n.424A>T | ClinVar dbSNP |
| 3 | g.128481155T>C | CA354412806 | GATA2 | c.1307A>G (p.His436Arg) c.1589A>G (p.His530Arg) c.282A>G (p.Thr94=) c.1265A>G (p.His422Arg) n.424A>G | |
| 3 | g.128481155T>G | CA354412805 | GATA2 | c.1307A>C (p.His436Pro) c.1589A>C (p.His530Pro) c.282A>C (p.Thr94=) c.1265A>C (p.His422Pro) n.424A>C | |
| 3 | g.128481155_128481156insTGGA | CA2580068691 | GATA2 | c.1306_1307insTCCA (p.His436LeufsTer?) c.1588_1589insTCCA (p.His530LeufsTer?) c.281_282insTCCA (p.His95ProfsTer?) c.1264_1265insTCCA (p.His422LeufsTer?) n.423_424insTCCA | ClinVar |
| 3 | g.128481156G>A | CA2599804 | GATA2 | c.1306C>T (p.His436Tyr) c.1588C>T (p.His530Tyr) c.281C>T (p.Thr94Ile) c.1264C>T (p.His422Tyr) n.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481156G>C | CA354412807 | GATA2 | c.1306C>G (p.His436Asp) c.1588C>G (p.His530Asp) c.281C>G (p.Thr94Arg) c.1264C>G (p.His422Asp) n.423C>G | |
| 3 | g.128481156G= | CA1400714035 | GATA2 | c.1306C= (p.His436=) c.1588C= (p.His530=) c.281C= (p.Thr94=) c.1264C= (p.His422=) n.423C= | |
| 3 | g.128481156G>T | CA354412808 | GATA2 | c.1306C>A (p.His436Asn) c.1588C>A (p.His530Asn) c.281C>A (p.Thr94Lys) c.1264C>A (p.His422Asn) n.423C>A | |
| 3 | g.128481157T>A | CA435524808 | GATA2 | c.1305A>T (p.Gly435=) c.1587A>T (p.Gly529=) c.280A>T (p.Thr94Ser) c.1263A>T (p.Gly421=) n.422A>T | |
| 3 | g.128481157T>C | CA435524810 | GATA2 | c.1305A>G (p.Gly435=) c.1587A>G (p.Gly529=) c.280A>G (p.Thr94Ala) c.1263A>G (p.Gly421=) n.422A>G | |
| 3 | g.128481157T>G | CA435524812 | GATA2 | c.1305A>C (p.Gly435=) c.1587A>C (p.Gly529=) c.280A>C (p.Thr94Pro) c.1263A>C (p.Gly421=) n.422A>C | |
| 3 | g.128481158C>A | CA354412809 | GATA2 | c.1304G>T (p.Gly435Val) c.1586G>T (p.Gly529Val) c.279G>T (p.Trp93Cys) c.1262G>T (p.Gly421Val) n.421G>T | |
| 3 | g.128481158C>G | CA354412810 | GATA2 | c.1304G>C (p.Gly435Ala) c.1586G>C (p.Gly529Ala) c.279G>C (p.Trp93Cys) c.1262G>C (p.Gly421Ala) n.421G>C | |
| 3 | g.128481158C>T | CA354412811 | GATA2 | c.1304G>A (p.Gly435Glu) c.1586G>A (p.Gly529Glu) c.279G>A (p.Trp93Ter) c.1262G>A (p.Gly421Glu) n.421G>A | |
| 3 | g.128481159C>A | CA354412812 | GATA2 | c.1303G>T (p.Gly435Ter) c.1585G>T (p.Gly529Ter) c.278G>T (p.Trp93Leu) c.1261G>T (p.Gly421Ter) n.420G>T | |
| 3 | g.128481159C>G | CA354412813 | GATA2 | c.1303G>C (p.Gly435Arg) c.1585G>C (p.Gly529Arg) c.278G>C (p.Trp93Ser) c.1261G>C (p.Gly421Arg) n.420G>C | ClinVar |
| 3 | g.128481159C>T | CA354412814 | GATA2 | c.1303G>A (p.Gly435Arg) c.1585G>A (p.Gly529Arg) c.278G>A (p.Trp93Ter) c.1261G>A (p.Gly421Arg) n.420G>A | |
| 3 | g.128481160A= | CA1400714037 | GATA2 | c.1302T= (p.Ala434=) c.1584T= (p.Ala528=) c.277T= (p.Trp93=) c.1260T= (p.Ala420=) n.419T= | |
| 3 | g.128481160A>C | CA83376249 | GATA2 | c.1302T>G (p.Ala434=) c.1584T>G (p.Ala528=) c.277T>G (p.Trp93Gly) c.1260T>G (p.Ala420=) n.419T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481160A>G | CA435524819 | GATA2 | c.1302T>C (p.Ala434=) c.1584T>C (p.Ala528=) c.277T>C (p.Trp93Arg) c.1260T>C (p.Ala420=) n.419T>C | |
| 3 | g.128481160A>T | CA435524820 | GATA2 | c.1302T>A (p.Ala434=) c.1584T>A (p.Ala528=) c.277T>A (p.Trp93Arg) c.1260T>A (p.Ala420=) n.419T>A | COSMIC |
| 3 | g.128481161G>A | CA354412815 | GATA2 | c.1301C>T (p.Ala434Val) c.1583C>T (p.Ala528Val) c.276C>T (p.Gly92=) c.1259C>T (p.Ala420Val) n.418C>T | ClinVar dbSNP |
| 3 | g.128481161G>C | CA354412816 | GATA2 | c.1301C>G (p.Ala434Gly) c.1583C>G (p.Ala528Gly) c.276C>G (p.Gly92=) c.1259C>G (p.Ala420Gly) n.418C>G | |
| 3 | g.128481161G>T | CA354412817 | GATA2 | c.1301C>A (p.Ala434Asp) c.1583C>A (p.Ala528Asp) c.276C>A (p.Gly92=) c.1259C>A (p.Ala420Asp) n.418C>A | |
| 3 | g.128481162C>A | CA354412819 | GATA2 | c.1300G>T (p.Ala434Ser) c.1582G>T (p.Ala528Ser) c.275G>T (p.Gly92Val) c.1258G>T (p.Ala420Ser) n.417G>T | COSMIC |
| 3 | g.128481162C= | CA1400714042 | GATA2 | c.1300G= (p.Ala434=) c.1582G= (p.Ala528=) c.275G= (p.Gly92=) c.1258G= (p.Ala420=) n.417G= | |
| 3 | g.128481162C>G | CA354412821 | GATA2 | c.1300G>C (p.Ala434Pro) c.1582G>C (p.Ala528Pro) c.275G>C (p.Gly92Ala) c.1258G>C (p.Ala420Pro) n.417G>C | ClinVar dbSNP |
| 3 | g.128481162C>T | CA354412820 | GATA2 | c.1300G>A (p.Ala434Thr) c.1582G>A (p.Ala528Thr) c.275G>A (p.Gly92Asp) c.1258G>A (p.Ala420Thr) n.417G>A | ClinVar |
| 3 | g.128481163C>A | CA435524826 | GATA2 | c.1299G>T (p.Leu433=) c.1581G>T (p.Leu527=) c.274G>T (p.Gly92Cys) c.1257G>T (p.Leu419=) n.416G>T | |
| 3 | g.128481163C>G | CA435524827 | GATA2 | c.1299G>C (p.Leu433=) c.1581G>C (p.Leu527=) c.274G>C (p.Gly92Arg) c.1257G>C (p.Leu419=) n.416G>C | |
| 3 | g.128481163C>T | CA435524828 | GATA2 | c.1299G>A (p.Leu433=) c.1581G>A (p.Leu527=) c.274G>A (p.Gly92Ser) c.1257G>A (p.Leu419=) n.416G>A | gnomAD v4 |
| 3 | g.128481164A= | CA1400714050 | GATA2 | c.1298T= (p.Leu433=) c.1580T= (p.Leu527=) c.273T= (p.Pro91=) c.1256T= (p.Leu419=) n.415T= | |
| 3 | g.128481164A>C | CA354412822 | GATA2 | c.1298T>G (p.Leu433Arg) c.1580T>G (p.Leu527Arg) c.273T>G (p.Pro91=) c.1256T>G (p.Leu419Arg) n.415T>G | dbSNP |
| 3 | g.128481164A>G | CA354412824 | GATA2 | c.1298T>C (p.Leu433Pro) c.1580T>C (p.Leu527Pro) c.273T>C (p.Pro91=) c.1256T>C (p.Leu419Pro) n.415T>C | |
| 3 | g.128481164A>T | CA354412823 | GATA2 | c.1298T>A (p.Leu433Gln) c.1580T>A (p.Leu527Gln) c.273T>A (p.Pro91=) c.1256T>A (p.Leu419Gln) n.415T>A | |
| 3 | g.128481165G>A | CA435524830 | GATA2 | c.1297C>T (p.Leu433=) c.1579C>T (p.Leu527=) c.272C>T (p.Pro91Leu) c.1255C>T (p.Leu419=) n.414C>T | |
| 3 | g.128481165G>C | CA354412825 | GATA2 | c.1297C>G (p.Leu433Val) c.1579C>G (p.Leu527Val) c.272C>G (p.Pro91Arg) c.1255C>G (p.Leu419Val) n.414C>G | dbSNP |
| 3 | g.128481165G= | CA1400714054 | GATA2 | c.1297C= (p.Leu433=) c.1579C= (p.Leu527=) c.272C= (p.Pro91=) c.1255C= (p.Leu419=) n.414C= | |
| 3 | g.128481165G>T | CA354412826 | GATA2 | c.1297C>A (p.Leu433Met) c.1579C>A (p.Leu527Met) c.272C>A (p.Pro91His) c.1255C>A (p.Leu419Met) n.414C>A | |
| 3 | g.128481166G>A | CA435524832 | GATA2 | c.1296C>T (p.Ala432=) c.1578C>T (p.Ala526=) c.271C>T (p.Pro91Ser) c.1254C>T (p.Ala418=) n.413C>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481166G>C | CA435524833 | GATA2 | c.1296C>G (p.Ala432=) c.1578C>G (p.Ala526=) c.271C>G (p.Pro91Ala) c.1254C>G (p.Ala418=) n.413C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481166G= | CA1400714056 | GATA2 | c.1296C= (p.Ala432=) c.1578C= (p.Ala526=) c.271C= (p.Pro91=) c.1254C= (p.Ala418=) n.413C= | |
| 3 | g.128481166G>T | CA435524835 | GATA2 | c.1296C>A (p.Ala432=) c.1578C>A (p.Ala526=) c.271C>A (p.Pro91Thr) c.1254C>A (p.Ala418=) n.413C>A | |
| 3 | g.128481167G>A | CA354412827 | GATA2 | c.1295C>T (p.Ala432Val) c.1577C>T (p.Ala526Val) c.270C>T (p.Cys90=) c.1253C>T (p.Ala418Val) n.412C>T | gnomAD v4 |
| 3 | g.128481167G>C | CA354412828 | GATA2 | c.1295C>G (p.Ala432Gly) c.1577C>G (p.Ala526Gly) c.270C>G (p.Cys90Trp) c.1253C>G (p.Ala418Gly) n.412C>G | ClinVar dbSNP |
| 3 | g.128481167G>T | CA354412829 | GATA2 | c.1295C>A (p.Ala432Asp) c.1577C>A (p.Ala526Asp) c.270C>A (p.Cys90Ter) c.1253C>A (p.Ala418Asp) n.412C>A | |
| 3 | g.128481168C>A | CA354412830 | GATA2 | c.1294G>T (p.Ala432Ser) c.1576G>T (p.Ala526Ser) c.269G>T (p.Cys90Phe) c.1252G>T (p.Ala418Ser) n.411G>T | |
| 3 | g.128481168C= | CA1400714059 | GATA2 | c.1294G= (p.Ala432=) c.1576G= (p.Ala526=) c.269G= (p.Cys90=) c.1252G= (p.Ala418=) n.411G= | |
| 3 | g.128481168C>G | CA354412831 | GATA2 | c.1294G>C (p.Ala432Pro) c.1576G>C (p.Ala526Pro) c.269G>C (p.Cys90Ser) c.1252G>C (p.Ala418Pro) n.411G>C | |
| 3 | g.128481168C>T | CA2599805 | GATA2 | c.1294G>A (p.Ala432Thr) c.1576G>A (p.Ala526Thr) c.269G>A (p.Cys90Tyr) c.1252G>A (p.Ala418Thr) n.411G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481169A>C | CA435524843 | GATA2 | c.1293T>G (p.Ala431=) c.1575T>G (p.Ala525=) c.268T>G (p.Cys90Gly) c.1251T>G (p.Ala417=) n.410T>G | |
| 3 | g.128481169A>G | CA435524844 | GATA2 | c.1293T>C (p.Ala431=) c.1575T>C (p.Ala525=) c.268T>C (p.Cys90Arg) c.1251T>C (p.Ala417=) n.410T>C | |
| 3 | g.128481169A>T | CA435524845 | GATA2 | c.1293T>A (p.Ala431=) c.1575T>A (p.Ala525=) c.268T>A (p.Cys90Ser) c.1251T>A (p.Ala417=) n.410T>A | |
| 3 | g.128481170G>A | CA354412832 | GATA2 | c.1292C>T (p.Ala431Val) c.1574C>T (p.Ala525Val) c.267C>T (p.Ser89=) c.1250C>T (p.Ala417Val) n.409C>T | ClinVar dbSNP |
| 3 | g.128481170G>C | CA354412833 | GATA2 | c.1292C>G (p.Ala431Gly) c.1574C>G (p.Ala525Gly) c.267C>G (p.Ser89Arg) c.1250C>G (p.Ala417Gly) n.409C>G | |
| 3 | g.128481170G>T | CA354412834 | GATA2 | c.1292C>A (p.Ala431Asp) c.1574C>A (p.Ala525Asp) c.267C>A (p.Ser89Arg) c.1250C>A (p.Ala417Asp) n.409C>A | |
| 3 | g.128481171C>A | CA354412836 | GATA2 | c.1291G>T (p.Ala431Ser) c.1573G>T (p.Ala525Ser) c.266G>T (p.Ser89Ile) c.1249G>T (p.Ala417Ser) n.408G>T | |
| 3 | g.128481171C>G | CA354412838 | GATA2 | c.1291G>C (p.Ala431Pro) c.1573G>C (p.Ala525Pro) c.266G>C (p.Ser89Thr) c.1249G>C (p.Ala417Pro) n.408G>C | |
| 3 | g.128481171C>T | CA354412840 | GATA2 | c.1291G>A (p.Ala431Thr) c.1573G>A (p.Ala525Thr) c.266G>A (p.Ser89Asn) c.1249G>A (p.Ala417Thr) n.408G>A | |
| 3 | g.128481172T>A | CA435524855 | GATA2 | c.1290A>T (p.Ala430=) c.1572A>T (p.Ala524=) c.265A>T (p.Ser89Cys) c.1248A>T (p.Ala416=) n.407A>T | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481172T>C | CA435524856 | GATA2 | c.1290A>G (p.Ala430=) c.1572A>G (p.Ala524=) c.265A>G (p.Ser89Gly) c.1248A>G (p.Ala416=) n.407A>G | |
| 3 | g.128481172T>G | CA2599806 | GATA2 | c.1290A>C (p.Ala430=) c.1572A>C (p.Ala524=) c.265A>C (p.Ser89Arg) c.1248A>C (p.Ala416=) n.407A>C | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128481172T= | CA1400714061 | GATA2 | c.1290A= (p.Ala430=) c.1572A= (p.Ala524=) c.265A= (p.Ser89=) c.1248A= (p.Ala416=) n.407A= | |
| 3 | g.128481173G>A | CA354412841 | GATA2 | c.1289C>T (p.Ala430Val) c.1571C>T (p.Ala524Val) c.264C>T (p.Cys88=) c.1247C>T (p.Ala416Val) n.406C>T | ClinVar dbSNP |
| 3 | g.128481173G>C | CA354412843 | GATA2 | c.1289C>G (p.Ala430Gly) c.1571C>G (p.Ala524Gly) c.264C>G (p.Cys88Trp) c.1247C>G (p.Ala416Gly) n.406C>G | |
| 3 | g.128481173G= | CA1400714068 | GATA2 | c.1289C= (p.Ala430=) c.1571C= (p.Ala524=) c.264C= (p.Cys88=) c.1247C= (p.Ala416=) n.406C= | |
| 3 | g.128481173G>T | CA354412844 | GATA2 | c.1289C>A (p.Ala430Glu) c.1571C>A (p.Ala524Glu) c.264C>A (p.Cys88Ter) c.1247C>A (p.Ala416Glu) n.406C>A | |
| 3 | g.128481174C>A | CA354412846 | GATA2 | c.1288G>T (p.Ala430Ser) c.1570G>T (p.Ala524Ser) c.263G>T (p.Cys88Phe) c.1246G>T (p.Ala416Ser) n.405G>T | |
| 3 | g.128481174C>G | CA354412848 | GATA2 | c.1288G>C (p.Ala430Pro) c.1570G>C (p.Ala524Pro) c.263G>C (p.Cys88Ser) c.1246G>C (p.Ala416Pro) n.405G>C | |
| 3 | g.128481174C>T | CA354412849 | GATA2 | c.1288G>A (p.Ala430Thr) c.1570G>A (p.Ala524Thr) c.263G>A (p.Cys88Tyr) c.1246G>A (p.Ala416Thr) n.405G>A | |
| 3 | g.128481175A= | CA1400714074 | GATA2 | c.1287T= (p.Ser429=) c.1569T= (p.Ser523=) c.262T= (p.Cys88=) c.1245T= (p.Ser415=) n.404T= | |
| 3 | g.128481175A>C | CA354412851 | GATA2 | c.1287T>G (p.Ser429Arg) c.1569T>G (p.Ser523Arg) c.262T>G (p.Cys88Gly) c.1245T>G (p.Ser415Arg) n.404T>G | |
| 3 | g.128481175A>G | CA435524863 | GATA2 | c.1287T>C (p.Ser429=) c.1569T>C (p.Ser523=) c.262T>C (p.Cys88Arg) c.1245T>C (p.Ser415=) n.404T>C | ClinVar |
| 3 | g.128481175A>T | CA2599807 | GATA2 | c.1287T>A (p.Ser429Arg) c.1569T>A (p.Ser523Arg) c.262T>A (p.Cys88Ser) c.1245T>A (p.Ser415Arg) n.404T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481176C>A | CA354412853 | GATA2 | c.1286G>T (p.Ser429Ile) c.1568G>T (p.Ser523Ile) c.261G>T (p.Gln87His) c.1244G>T (p.Ser415Ile) n.403G>T | |
| 3 | g.128481176C= | CA1400714083 | GATA2 | c.1286G= (p.Ser429=) c.1568G= (p.Ser523=) c.261G= (p.Gln87=) c.1244G= (p.Ser415=) n.403G= | |
| 3 | g.128481176C>G | CA2599808 | GATA2 | c.1286G>C (p.Ser429Thr) c.1568G>C (p.Ser523Thr) c.261G>C (p.Gln87His) c.1244G>C (p.Ser415Thr) n.403G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481176C>T | CA354412856 | GATA2 | c.1286G>A (p.Ser429Asn) c.1568G>A (p.Ser523Asn) c.261G>A (p.Gln87=) c.1244G>A (p.Ser415Asn) n.403G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481177T>A | CA354412859 | GATA2 | c.1285A>T (p.Ser429Cys) c.1567A>T (p.Ser523Cys) c.260A>T (p.Gln87Leu) c.1243A>T (p.Ser415Cys) n.402A>T | |
| 3 | g.128481177T>C | CA354412861 | GATA2 | c.1285A>G (p.Ser429Gly) c.1567A>G (p.Ser523Gly) c.260A>G (p.Gln87Arg) c.1243A>G (p.Ser415Gly) n.402A>G | gnomAD v4 |
| 3 | g.128481177T>G | CA354412858 | GATA2 | c.1285A>C (p.Ser429Arg) c.1567A>C (p.Ser523Arg) c.260A>C (p.Gln87Pro) c.1243A>C (p.Ser415Arg) n.402A>C | |
| 3 | g.128481178G>A | CA435524870 | GATA2 | c.1284C>T (p.Phe428=) c.1566C>T (p.Phe522=) c.259C>T (p.Gln87Ter) c.1242C>T (p.Phe414=) n.401C>T | |
| 3 | g.128481178G>C | CA354412862 | GATA2 | c.1284C>G (p.Phe428Leu) c.1566C>G (p.Phe522Leu) c.259C>G (p.Gln87Glu) c.1242C>G (p.Phe414Leu) n.401C>G | |
| 3 | g.128481178G>T | CA354412864 | GATA2 | c.1284C>A (p.Phe428Leu) c.1566C>A (p.Phe522Leu) c.259C>A (p.Gln87Lys) c.1242C>A (p.Phe414Leu) n.401C>A | |
| 3 | g.128481179A>C | CA354412865 | GATA2 | c.1283T>G (p.Phe428Cys) c.1565T>G (p.Phe522Cys) c.258T>G (p.Leu86=) c.1241T>G (p.Phe414Cys) n.400T>G | |
| 3 | g.128481179A>G | CA354412866 | GATA2 | c.1283T>C (p.Phe428Ser) c.1565T>C (p.Phe522Ser) c.258T>C (p.Leu86=) c.1241T>C (p.Phe414Ser) n.400T>C | |
| 3 | g.128481179A>T | CA354412867 | GATA2 | c.1283T>A (p.Phe428Tyr) c.1565T>A (p.Phe522Tyr) c.258T>A (p.Leu86=) c.1241T>A (p.Phe414Tyr) n.400T>A | ClinVar |
| 3 | g.128481180A= | CA1400714094 | GATA2 | c.1282T= (p.Phe428=) c.1564T= (p.Phe522=) c.257T= (p.Leu86=) c.1240T= (p.Phe414=) n.399T= | |
| 3 | g.128481180A>C | CA354412869 | GATA2 | c.1282T>G (p.Phe428Val) c.1564T>G (p.Phe522Val) c.257T>G (p.Leu86Arg) c.1240T>G (p.Phe414Val) n.399T>G | |
| 3 | g.128481180A>G | CA354412871 | GATA2 | c.1282T>C (p.Phe428Leu) c.1564T>C (p.Phe522Leu) c.257T>C (p.Leu86Pro) c.1240T>C (p.Phe414Leu) n.399T>C | |
| 3 | g.128481180A>T | CA16611345 | GATA2 | c.1282T>A (p.Phe428Ile) c.1564T>A (p.Phe522Ile) c.257T>A (p.Leu86His) c.1240T>A (p.Phe414Ile) n.399T>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481181G>A | CA435524876 | GATA2 | c.1281C>T (p.Pro427=) c.1563C>T (p.Pro521=) c.256C>T (p.Leu86Phe) c.1239C>T (p.Pro413=) n.398C>T | ClinVar gnomAD v4 |
| 3 | g.128481181G>C | CA435524879 | GATA2 | c.1281C>G (p.Pro427=) c.1563C>G (p.Pro521=) c.256C>G (p.Leu86Val) c.1239C>G (p.Pro413=) n.398C>G | ClinVar dbSNP |
| 3 | g.128481181G>T | CA435524881 | GATA2 | c.1281C>A (p.Pro427=) c.1563C>A (p.Pro521=) c.256C>A (p.Leu86Ile) c.1239C>A (p.Pro413=) n.398C>A | |
| 3 | g.128481185dup | CA2499216425 | GATA2 | c.1281dup (p.Phe428LeufsTer?) c.1563dup (p.Phe522LeufsTer?) c.256dup (p.Leu86ProfsTer?) c.1239dup (p.Phe414LeufsTer?) n.398dup | ClinVar dbSNP |
| 3 | g.128481185del | CA435524882 | GATA2 | c.1281del (p.Phe428SerfsTer?) c.1563del (p.Phe522SerfsTer?) c.256del (p.Leu86PhefsTer?) c.1239del (p.Phe414SerfsTer?) n.398del | COSMIC |
| 3 | g.128481182G>A | CA354412873 | GATA2 | c.1280C>T (p.Pro427Leu) c.1562C>T (p.Pro521Leu) c.255C>T (p.Pro85=) c.1238C>T (p.Pro413Leu) n.397C>T | ClinVar |
| 3 | g.128481182G>C | CA354412874 | GATA2 | c.1280C>G (p.Pro427Arg) c.1562C>G (p.Pro521Arg) c.255C>G (p.Pro85=) c.1238C>G (p.Pro413Arg) n.397C>G | ClinVar dbSNP |
| 3 | g.128481182G= | CA1400714098 | GATA2 | c.1280C= (p.Pro427=) c.1562C= (p.Pro521=) c.255C= (p.Pro85=) c.1238C= (p.Pro413=) n.397C= | |
| 3 | g.128481182G>T | CA354412876 | GATA2 | c.1280C>A (p.Pro427His) c.1562C>A (p.Pro521His) c.255C>A (p.Pro85=) c.1238C>A (p.Pro413His) n.397C>A | |
| 3 | g.128481183G>A | CA354412879 | GATA2 | c.1279C>T (p.Pro427Ser) c.1561C>T (p.Pro521Ser) c.254C>T (p.Pro85Leu) c.1237C>T (p.Pro413Ser) n.396C>T | |
| 3 | g.128481183G>C | CA354412881 | GATA2 | c.1279C>G (p.Pro427Ala) c.1561C>G (p.Pro521Ala) c.254C>G (p.Pro85Arg) c.1237C>G (p.Pro413Ala) n.396C>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481183G>T | CA354412878 | GATA2 | c.1279C>A (p.Pro427Thr) c.1561C>A (p.Pro521Thr) c.254C>A (p.Pro85His) c.1237C>A (p.Pro413Thr) n.396C>A | |
| 3 | g.128481184G>A | CA435524889 | GATA2 | c.1278C>T (p.Ser426=) c.1560C>T (p.Ser520=) c.253C>T (p.Pro85Ser) c.1236C>T (p.Ser412=) n.395C>T | dbSNP gnomAD v2 |
| 3 | g.128481184G>C | CA435524891 | GATA2 | c.1278C>G (p.Ser426=) c.1560C>G (p.Ser520=) c.253C>G (p.Pro85Ala) c.1236C>G (p.Ser412=) n.395C>G | |
| 3 | g.128481184G= | CA1400714103 | GATA2 | c.1278C= (p.Ser426=) c.1560C= (p.Ser520=) c.253C= (p.Pro85=) c.1236C= (p.Ser412=) n.395C= | |
| 3 | g.128481184G>T | CA435524893 | GATA2 | c.1278C>A (p.Ser426=) c.1560C>A (p.Ser520=) c.253C>A (p.Pro85Thr) c.1236C>A (p.Ser412=) n.395C>A | |
| 3 | g.128481185G>A | CA354412883 | GATA2 | c.1277C>T (p.Ser426Phe) c.1559C>T (p.Ser520Phe) c.252C>T (p.Ile84=) c.1235C>T (p.Ser412Phe) n.394C>T | |
| 3 | g.128481185G>C | CA354412884 | GATA2 | c.1277C>G (p.Ser426Cys) c.1559C>G (p.Ser520Cys) c.252C>G (p.Ile84Met) c.1235C>G (p.Ser412Cys) n.394C>G | |
| 3 | g.128481185G= | CA1400714105 | GATA2 | c.1277C= (p.Ser426=) c.1559C= (p.Ser520=) c.252C= (p.Ile84=) c.1235C= (p.Ser412=) n.394C= | |
| 3 | g.128481185G>T | CA354412886 | GATA2 | c.1277C>A (p.Ser426Tyr) c.1559C>A (p.Ser520Tyr) c.252C>A (p.Ile84=) c.1235C>A (p.Ser412Tyr) n.394C>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481186A= | CA1400714108 | GATA2 | c.1276T= (p.Ser426=) c.1558T= (p.Ser520=) c.251T= (p.Ile84=) c.1234T= (p.Ser412=) n.393T= | |
| 3 | g.128481186A>C | CA354412887 | GATA2 | c.1276T>G (p.Ser426Ala) c.1558T>G (p.Ser520Ala) c.251T>G (p.Ile84Ser) c.1234T>G (p.Ser412Ala) n.393T>G | |
| 3 | g.128481186A>G | CA354412889 | GATA2 | c.1276T>C (p.Ser426Pro) c.1558T>C (p.Ser520Pro) c.251T>C (p.Ile84Thr) c.1234T>C (p.Ser412Pro) n.393T>C | ClinVar dbSNP |
| 3 | g.128481186A>T | CA354412890 | GATA2 | c.1276T>A (p.Ser426Thr) c.1558T>A (p.Ser520Thr) c.251T>A (p.Ile84Asn) c.1234T>A (p.Ser412Thr) n.393T>A | gnomAD v4 |
| 3 | g.128481187T>A | CA435524899 | GATA2 | c.1275A>T (p.Ser425=) c.1557A>T (p.Ser519=) c.250A>T (p.Ile84Phe) c.1233A>T (p.Ser411=) n.392A>T | |
| 3 | g.128481187T>C | CA435524901 | GATA2 | c.1275A>G (p.Ser425=) c.1557A>G (p.Ser519=) c.250A>G (p.Ile84Val) c.1233A>G (p.Ser411=) n.392A>G | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481187T>G | CA435524902 | GATA2 | c.1275A>C (p.Ser425=) c.1557A>C (p.Ser519=) c.250A>C (p.Ile84Leu) c.1233A>C (p.Ser411=) n.392A>C | gnomAD v4 |
| 3 | g.128481187T= | CA1400714113 | GATA2 | c.1275A= (p.Ser425=) c.1557A= (p.Ser519=) c.250A= (p.Ile84=) c.1233A= (p.Ser411=) n.392A= | |
| 3 | g.128481188G>A | CA2599809 | GATA2 | c.1274C>T (p.Ser425Leu) c.1556C>T (p.Ser519Leu) c.249C>T (p.Val83=) c.1232C>T (p.Ser411Leu) n.391C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481188G>C | CA354412893 | GATA2 | c.1274C>G (p.Ser425Ter) c.1556C>G (p.Ser519Ter) c.249C>G (p.Val83=) c.1232C>G (p.Ser411Ter) n.391C>G | |
| 3 | g.128481188G= | CA1400714117 | GATA2 | c.1274C= (p.Ser425=) c.1556C= (p.Ser519=) c.249C= (p.Val83=) c.1232C= (p.Ser411=) n.391C= | |
| 3 | g.128481188G>T | CA354412892 | GATA2 | c.1274C>A (p.Ser425Ter) c.1556C>A (p.Ser519Ter) c.249C>A (p.Val83=) c.1232C>A (p.Ser411Ter) n.391C>A | |
| 3 | g.128481189A= | CA1400714125 | GATA2 | c.1273T= (p.Ser425=) c.1555T= (p.Ser519=) c.248T= (p.Val83=) c.1231T= (p.Ser411=) n.390T= | |
| 3 | g.128481189A>C | CA2599810 | GATA2 | c.1273T>G (p.Ser425Ala) c.1555T>G (p.Ser519Ala) c.248T>G (p.Val83Gly) c.1231T>G (p.Ser411Ala) n.390T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481189A>G | CA354412896 | GATA2 | c.1273T>C (p.Ser425Pro) c.1555T>C (p.Ser519Pro) c.248T>C (p.Val83Ala) c.1231T>C (p.Ser411Pro) n.390T>C | ClinVar dbSNP |
| 3 | g.128481189A>T | CA354412897 | GATA2 | c.1273T>A (p.Ser425Thr) c.1555T>A (p.Ser519Thr) c.248T>A (p.Val83Asp) c.1231T>A (p.Ser411Thr) n.390T>A | |
| 3 | g.128481190C>A | CA354412899 | GATA2 | c.1272G>T (p.Lys424Asn) c.1554G>T (p.Lys518Asn) c.247G>T (p.Val83Phe) c.1230G>T (p.Lys410Asn) n.389G>T | |
| 3 | g.128481190C>G | CA354412900 | GATA2 | c.1272G>C (p.Lys424Asn) c.1554G>C (p.Lys518Asn) c.247G>C (p.Val83Leu) c.1230G>C (p.Lys410Asn) n.389G>C | |
| 3 | g.128481190C>T | CA435524908 | GATA2 | c.1272G>A (p.Lys424=) c.1554G>A (p.Lys518=) c.247G>A (p.Val83Ile) c.1230G>A (p.Lys410=) n.389G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481191T>A | CA354412904 | GATA2 | c.1271A>T (p.Lys424Met) c.1553A>T (p.Lys518Met) c.246A>T (p.Glu82Asp) c.1229A>T (p.Lys410Met) n.388A>T | |
| 3 | g.128481191T>C | CA354412905 | GATA2 | c.1271A>G (p.Lys424Arg) c.1553A>G (p.Lys518Arg) c.246A>G (p.Glu82=) c.1229A>G (p.Lys410Arg) n.388A>G | |
| 3 | g.128481191T>G | CA354412902 | GATA2 | c.1271A>C (p.Lys424Thr) c.1553A>C (p.Lys518Thr) c.246A>C (p.Glu82Asp) c.1229A>C (p.Lys410Thr) n.388A>C | |
| 3 | g.128481192T>A | CA354412906 | GATA2 | c.1270A>T (p.Lys424Ter) c.1552A>T (p.Lys518Ter) c.245A>T (p.Glu82Val) c.1228A>T (p.Lys410Ter) n.387A>T | |
| 3 | g.128481192T>C | CA354412908 | GATA2 | c.1270A>G (p.Lys424Glu) c.1552A>G (p.Lys518Glu) c.245A>G (p.Glu82Gly) c.1228A>G (p.Lys410Glu) n.387A>G | |
| 3 | g.128481192T>G | CA354412909 | GATA2 | c.1270A>C (p.Lys424Gln) c.1552A>C (p.Lys518Gln) c.245A>C (p.Glu82Ala) c.1228A>C (p.Lys410Gln) n.387A>C | |
| 3 | g.128481192_128481195delinsTCTC | CA1400714130 | GATA2 | c.1267_1270delinsGAGA (p.Glu423=) c.1549_1552delinsGAGA (p.Glu517=) c.242_245delinsGAGA (p.Gly81=) c.1225_1228delinsGAGA (p.Glu409=) n.384_387delinsGAGA | |
| 3 | g.128481193C>A | CA354412911 | GATA2 | c.1269G>T (p.Glu423Asp) c.1551G>T (p.Glu517Asp) c.244G>T (p.Glu82Ter) c.1227G>T (p.Glu409Asp) n.386G>T | gnomAD v4 |
| 3 | g.128481193C= | CA1400714132 | GATA2 | c.1269G= (p.Glu423=) c.1551G= (p.Glu517=) c.244G= (p.Glu82=) c.1227G= (p.Glu409=) n.386G= | |
| 3 | g.128481193C>G | CA354412913 | GATA2 | c.1269G>C (p.Glu423Asp) c.1551G>C (p.Glu517Asp) c.244G>C (p.Glu82Gln) c.1227G>C (p.Glu409Asp) n.386G>C | ClinVar |
| 3 | g.128481193C>T | CA435524915 | GATA2 | c.1269G>A (p.Glu423=) c.1551G>A (p.Glu517=) c.244G>A (p.Glu82Lys) c.1227G>A (p.Glu409=) n.386G>A | dbSNP |
| 3 | g.128481195_128481197del | CA546415757 | GATA2 | c.1267_1269del (p.Glu423del) c.1549_1551del (p.Glu517del) c.242_244del (p.Gly81del) c.1225_1227del (p.Glu409del) n.384_386del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481194T>A | CA354412914 | GATA2 | c.1268A>T (p.Glu423Val) c.1550A>T (p.Glu517Val) c.243A>T (p.Gly81=) c.1226A>T (p.Glu409Val) n.385A>T | |
| 3 | g.128481194T>C | CA354412915 | GATA2 | c.1268A>G (p.Glu423Gly) c.1550A>G (p.Glu517Gly) c.243A>G (p.Gly81=) c.1226A>G (p.Glu409Gly) n.385A>G | |
| 3 | g.128481194T>G | CA354412917 | GATA2 | c.1268A>C (p.Glu423Ala) c.1550A>C (p.Glu517Ala) c.243A>C (p.Gly81=) c.1226A>C (p.Glu409Ala) n.385A>C | |
| 3 | g.128481195C>A | CA354412919 | GATA2 | c.1267G>T (p.Glu423Ter) c.1549G>T (p.Glu517Ter) c.242G>T (p.Gly81Val) c.1225G>T (p.Glu409Ter) n.384G>T | |
| 3 | g.128481195C= | CA1400714136 | GATA2 | c.1267G= (p.Glu423=) c.1549G= (p.Glu517=) c.242G= (p.Gly81=) c.1225G= (p.Glu409=) n.384G= | |
| 3 | g.128481195C>G | CA354412921 | GATA2 | c.1267G>C (p.Glu423Gln) c.1549G>C (p.Glu517Gln) c.242G>C (p.Gly81Ala) c.1225G>C (p.Glu409Gln) n.384G>C | |
| 3 | g.128481195C>T | CA2599811 | GATA2 | c.1267G>A (p.Glu423Lys) c.1549G>A (p.Glu517Lys) c.242G>A (p.Gly81Glu) c.1225G>A (p.Glu409Lys) n.384G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481196del | CA2580068693 | GATA2 | c.1267del (p.Glu423ArgfsTer?) c.1549del (p.Glu517ArgfsTer?) c.242del (p.Gly81GlufsTer?) c.1225del (p.Glu409ArgfsTer?) n.384del | ClinVar |