| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 3 | g.128480953G>T | CA2667540208 | GATA2 | c.*66C>A (n.*66C>A) c.484C>A (p.His162Asn) n.626C>A | gnomAD v4 |
| 3 | g.128480954C>A | CA2667540209 | GATA2 | c.*65G>T (n.*65G>T) c.483G>T (p.Gln161His) n.625G>T | gnomAD v4 |
| 3 | g.128480954C>T | CA2667540210 | GATA2 | c.*65G>A (n.*65G>A) c.483G>A (p.Gln161=) n.625G>A | gnomAD v4 |
| 3 | g.128480955T>A | CA2667540211 | GATA2 | c.*64A>T (n.*64A>T) c.482A>T (p.Gln161Leu) n.624A>T | gnomAD v4 |
| 3 | g.128480955T>C | CA2667540212 | GATA2 | c.*64A>G (n.*64A>G) c.482A>G (p.Gln161Arg) n.624A>G | gnomAD v4 |
| 3 | g.128480956G>A | CA2667540213 | GATA2 | c.*63C>T (n.*63C>T) c.481C>T (p.Gln161Ter) n.623C>T | gnomAD v4 |
| 3 | g.128480956G>T | CA2577890667 | GATA2 | c.*63C>A (n.*63C>A) c.481C>A (p.Gln161Lys) n.623C>A | gnomAD v4 |
| 3 | g.128480957G>A | CA2667540214 | GATA2 | c.*62C>T (n.*62C>T) c.480C>T (p.Ala160=) n.622C>T | gnomAD v4 |
| 3 | g.128480957G>T | CA2667540215 | GATA2 | c.*62C>A (n.*62C>A) c.480C>A (p.Ala160=) n.622C>A | gnomAD v4 |
| 3 | g.128480961_128480963del | CA2667540216 | GATA2 | c.*59_*61del (n.*59_*61del) c.477_479del (p.Ala160del) n.619_621del | gnomAD v4 |
| 3 | g.128480959C>A | CA2667540217 | GATA2 | c.*60G>T (n.*60G>T) c.478G>T (p.Ala160Ser) n.620G>T | gnomAD v4 |
| 3 | g.128480959C>G | CA2667540218 | GATA2 | c.*60G>C (n.*60G>C) c.478G>C (p.Ala160Pro) n.620G>C | gnomAD v4 |
| 3 | g.128480959C>T | CA2667540219 | GATA2 | c.*60G>A (n.*60G>A) c.478G>A (p.Ala160Thr) n.620G>A | gnomAD v4 |
| 3 | g.128480960T>G | CA2667540220 | GATA2 | c.*59A>C (n.*59A>C) c.477A>C (p.Ala159=) n.619A>C | gnomAD v4 |
| 3 | g.128480961G>A | CA2667540221 | GATA2 | c.*58C>T (n.*58C>T) c.476C>T (p.Ala159Val) n.618C>T | gnomAD v4 |
| 3 | g.128480961G>T | CA2667540222 | GATA2 | c.*58C>A (n.*58C>A) c.476C>A (p.Ala159Glu) n.618C>A | gnomAD v4 |
| 3 | g.128480962C>A | CA2667540223 | GATA2 | c.*57G>T (n.*57G>T) c.475G>T (p.Ala159Ser) n.617G>T | gnomAD v4 |
| 3 | g.128480962C>G | CA83376138 | GATA2 | c.*57G>C (n.*57G>C) c.475G>C (p.Ala159Pro) n.617G>C | |
| 3 | g.128480963T>C | CA1400713577 | GATA2 | c.*56A>G (n.*56A>G) c.474A>G (p.Leu158=) n.616A>G | dbSNP |
| 3 | g.128480963T= | CA1400713576 | GATA2 | c.*56A= (n.*56A=) c.474A= (p.Leu158=) n.616A= | |
| 3 | g.128480964A>G | CA2667540224 | GATA2 | c.*55T>C (n.*55T>C) c.473T>C (p.Leu158Ser) n.615T>C | gnomAD v4 |
| 3 | g.128480965A= | CA1400713579 | GATA2 | c.*54T= (n.*54T=) c.472T= (p.Leu158=) n.614T= | |
| 3 | g.128480965A>C | CA2667540225 | GATA2 | c.*54T>G (n.*54T>G) c.472T>G (p.Leu158Val) n.614T>G | gnomAD v4 |
| 3 | g.128480965A>G | CA898646256 | GATA2 | c.*54T>C (n.*54T>C) c.472T>C (p.Leu158=) n.614T>C | dbSNP |
| 3 | g.128480966G>A | CA1400713587 | GATA2 | c.*53C>T (n.*53C>T) c.471C>T (p.Pro157=) n.613C>T | dbSNP gnomAD v4 |
| 3 | g.128480966G>C | CA1400713585 | GATA2 | c.*53C>G (n.*53C>G) c.471C>G (p.Pro157=) n.613C>G | dbSNP gnomAD v4 |
| 3 | g.128480966G= | CA1400713583 | GATA2 | c.*53C= (n.*53C=) c.471C= (p.Pro157=) n.613C= | |
| 3 | g.128480966G>T | CA1400713584 | GATA2 | c.*53C>A (n.*53C>A) c.471C>A (p.Pro157=) n.613C>A | dbSNP gnomAD v4 |
| 3 | g.128480967G>A | CA2667540226 | GATA2 | c.*52C>T (n.*52C>T) c.470C>T (p.Pro157Leu) n.612C>T | gnomAD v4 |
| 3 | g.128480967G>C | CA83376141 | GATA2 | c.*52C>G (n.*52C>G) c.470C>G (p.Pro157Arg) n.612C>G | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128480967G= | CA1400713589 | GATA2 | c.*52C= (n.*52C=) c.470C= (p.Pro157=) n.612C= | |
| 3 | g.128480967G>T | CA2667540227 | GATA2 | c.*52C>A (n.*52C>A) c.470C>A (p.Pro157His) n.612C>A | gnomAD v4 |
| 3 | g.128480968G>A | CA2667540228 | GATA2 | c.*51C>T (n.*51C>T) c.469C>T (p.Pro157Ser) n.611C>T | gnomAD v4 |
| 3 | g.128480968G>T | CA648278772 | GATA2 | c.*51C>A (n.*51C>A) c.469C>A (p.Pro157Thr) n.611C>A | gnomAD v4 COSMIC |
| 3 | g.128480970T>C | CA2667540229 | GATA2 | c.*49A>G (n.*49A>G) c.467A>G (p.Lys156Arg) n.609A>G | gnomAD v4 |
| 3 | g.128480972G>T | CA2667540230 | GATA2 | c.*47C>A (n.*47C>A) c.465C>A (p.Thr155=) n.607C>A | gnomAD v4 |
| 3 | g.128480973G>A | CA546105426 | GATA2 | c.*46C>T (n.*46C>T) c.464C>T (p.Thr155Ile) n.606C>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128480973G= | CA1400713592 | GATA2 | c.*46C= (n.*46C=) c.464C= (p.Thr155=) n.606C= | |
| 3 | g.128480973G>T | CA2667540231 | GATA2 | c.*46C>A (n.*46C>A) c.464C>A (p.Thr155Asn) n.606C>A | gnomAD v4 |
| 3 | g.128480974T>C | CA546105427 | GATA2 | c.*45A>G (n.*45A>G) c.463A>G (p.Thr155Ala) n.605A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128480974T= | CA1400713593 | GATA2 | c.*45A= (n.*45A=) c.463A= (p.Thr155=) n.605A= | |
| 3 | g.128480975C>A | CA1400713596 | GATA2 | c.*44G>T (n.*44G>T) c.462G>T (p.Trp154Cys) n.604G>T | dbSNP gnomAD v4 |
| 3 | g.128480975C= | CA1400713597 | GATA2 | c.*44G= (n.*44G=) c.462G= (p.Trp154=) n.604G= | |
| 3 | g.128480975C>T | CA2667540232 | GATA2 | c.*44G>A (n.*44G>A) c.462G>A (p.Trp154Ter) n.604G>A | gnomAD v4 |
| 3 | g.128480976C>A | CA2667540233 | GATA2 | c.*43G>T (n.*43G>T) c.461G>T (p.Trp154Leu) n.603G>T | gnomAD v4 |
| 3 | g.128480976C= | CA1400713599 | GATA2 | c.*43G= (n.*43G=) c.461G= (p.Trp154=) n.603G= | |
| 3 | g.128480976C>G | CA83376142 | GATA2 | c.*43G>C (n.*43G>C) c.461G>C (p.Trp154Ser) n.603G>C | dbSNP |
| 3 | g.128480976C>T | CA2667540234 | GATA2 | c.*43G>A (n.*43G>A) c.461G>A (p.Trp154Ter) n.603G>A | gnomAD v4 |
| 3 | g.128480977A= | CA1400713601 | GATA2 | c.*42T= (n.*42T=) c.460T= (p.Trp154=) n.602T= | |
| 3 | g.128480977A>C | CA898646267 | GATA2 | c.*42T>G (n.*42T>G) c.460T>G (p.Trp154Gly) n.602T>G | dbSNP |
| 3 | g.128480977A>G | CA83376144 | GATA2 | c.*42T>C (n.*42T>C) c.460T>C (p.Trp154Arg) n.602T>C | dbSNP |
| 3 | g.128480977A>T | CA2667540235 | GATA2 | c.*42T>A (n.*42T>A) c.460T>A (p.Trp154Arg) n.602T>A | gnomAD v4 |
| 3 | g.128480978C>A | CA2667540237 | GATA2 | c.*41G>T (n.*41G>T) c.459G>T (p.Gly153=) n.601G>T | gnomAD v4 |
| 3 | g.128480978C= | CA1400713605 | GATA2 | c.*41G= (n.*41G=) c.459G= (p.Gly153=) n.601G= | |
| 3 | g.128480978C>T | CA1053360891 | GATA2 | c.*41G>A (n.*41G>A) c.459G>A (p.Gly153=) n.601G>A | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128480980del | CA2667540236 | GATA2 | c.*41del (n.*41del) c.459del (p.Trp154GlyfsTer5) n.601del | gnomAD v4 |
| 3 | g.128480979C>A | CA2667540238 | GATA2 | c.*40G>T (n.*40G>T) c.458G>T (p.Gly153Val) n.600G>T | gnomAD v4 |
| 3 | g.128480980C>A | CA2667540239 | GATA2 | c.*39G>T (n.*39G>T) c.457G>T (p.Gly153Trp) n.599G>T | gnomAD v4 |
| 3 | g.128480981A= | CA1400713607 | GATA2 | c.*38T= (n.*38T=) c.456T= (p.Asp152=) n.598T= | |
| 3 | g.128480981A>C | CA83376146 | GATA2 | c.*38T>G (n.*38T>G) c.456T>G (p.Asp152Glu) n.598T>G | dbSNP gnomAD v4 |
| 3 | g.128480981A>T | CA2667540240 | GATA2 | c.*38T>A (n.*38T>A) c.456T>A (p.Asp152Glu) n.598T>A | gnomAD v4 |
| 3 | g.128480982T>A | CA2667540241 | GATA2 | c.*37A>T (n.*37A>T) c.455A>T (p.Asp152Val) n.597A>T | gnomAD v4 |
| 3 | g.128480982_128480983delinsTC | CA1400713609 | GATA2 | c.*36_*37delinsGA (n.*36_*37delinsGA) c.454_455delinsGA (p.Asp152=) n.596_597delinsGA | |
| 3 | g.128480983C>A | CA2667540243 | GATA2 | c.*36G>T (n.*36G>T) c.454G>T (p.Asp152Tyr) n.596G>T | gnomAD v4 |
| 3 | g.128480983C>T | CA2667540242 | GATA2 | c.*36G>A (n.*36G>A) c.454G>A (p.Asp152Asn) n.596G>A | gnomAD v4 |
| 3 | g.128480985del | CA83376148 | GATA2 | c.*36del (n.*36del) c.454del (p.Asp152MetfsTer7) n.596del | dbSNP |
| 3 | g.128480984C>A | CA2667540244 | GATA2 | c.*35G>T (n.*35G>T) c.453G>T (p.Arg151=) n.595G>T | gnomAD v4 |
| 3 | g.128480985C>A | CA2667540245 | GATA2 | c.*34G>T (n.*34G>T) c.452G>T (p.Arg151Leu) n.594G>T | gnomAD v4 |
| 3 | g.128480985C= | CA1400713611 | GATA2 | c.*34G= (n.*34G=) c.452G= (p.Arg151=) n.594G= | |
| 3 | g.128480985C>T | CA2599763 | GATA2 | c.*34G>A (n.*34G>A) c.452G>A (p.Arg151Gln) n.594G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128480986G>A | CA546105432 | GATA2 | c.*33C>T (n.*33C>T) c.451C>T (p.Arg151Trp) n.593C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128480986G= | CA1400713613 | GATA2 | c.*33C= (n.*33C=) c.451C= (p.Arg151=) n.593C= | |
| 3 | g.128480986G>T | CA2599764 | GATA2 | c.*33C>A (n.*33C>A) c.451C>A (p.Arg151=) n.593C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128480986_128480987insA | CA648278779 | GATA2 | c.*32_*33insT (n.*32_*33insT) c.450_451insT (p.Arg151SerfsTer?) n.592_593insT | COSMIC |
| 3 | g.128480987G>A | CA2599765 | GATA2 | c.*32C>T (n.*32C>T) c.450C>T (p.Ser150=) n.592C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128480987G= | CA1400713617 | GATA2 | c.*32C= (n.*32C=) c.450C= (p.Ser150=) n.592C= | |
| 3 | g.128480987G>T | CA2667540246 | GATA2 | c.*32C>A (n.*32C>A) c.450C>A (p.Ser150=) n.592C>A | gnomAD v4 |
| 3 | g.128480988G>A | CA2667540247 | GATA2 | c.*31C>T (n.*31C>T) c.449C>T (p.Ser150Phe) n.591C>T | gnomAD v4 |
| 3 | g.128480988G>C | CA2667540248 | GATA2 | c.*31C>G (n.*31C>G) c.449C>G (p.Ser150Cys) n.591C>G | gnomAD v4 |
| 3 | g.128480988G>T | CA2667540249 | GATA2 | c.*31C>A (n.*31C>A) c.449C>A (p.Ser150Tyr) n.591C>A | gnomAD v4 |
| 3 | g.128480989_128481004dup | CA16021039 | GATA2 | c.*15_*30dup (n.*15_*30dup) c.433_448dup (p.Ser150PhefsTer?) n.575_590dup | |
| 3 | g.128480990G>A | CA2703921591 | GATA2 | c.*29C>T (n.*29C>T) c.447C>T (p.His149=) n.589C>T | dbSNP |
| 3 | g.128480991T>G | CA2703921656 | GATA2 | c.*28A>C (n.*28A>C) c.446A>C (p.His149Pro) n.588A>C | dbSNP |
| 3 | g.128480992G>A | CA2667540250 | GATA2 | c.*27C>T (n.*27C>T) c.445C>T (p.His149Tyr) n.587C>T | gnomAD v4 |
| 3 | g.128480992G>T | CA2667540251 | GATA2 | c.*27C>A (n.*27C>A) c.445C>A (p.His149Asn) n.587C>A | gnomAD v4 |
| 3 | g.128480993C>A | CA2667540252 | GATA2 | c.*26G>T (n.*26G>T) c.444G>T (p.Gly148=) n.586G>T | gnomAD v4 |
| 3 | g.128480993C>T | CA2667540253 | GATA2 | c.*26G>A (n.*26G>A) c.444G>A (p.Gly148=) n.586G>A | gnomAD v4 |
| 3 | g.128480995del | CA2577890668 | GATA2 | c.*26del (n.*26del) c.444del (p.His149ThrfsTer10) n.586del | |
| 3 | g.128480994C>A | CA2577890669 | GATA2 | c.*25G>T (n.*25G>T) c.443G>T (p.Gly148Val) n.585G>T | gnomAD v4 |
| 3 | g.128480995C>A | CA2758339627 | GATA2 | c.*24G>T (n.*24G>T) c.442G>T (p.Gly148Trp) n.584G>T | |
| 3 | g.128480995C= | CA1400713621 | GATA2 | c.*24G= (n.*24G=) c.442G= (p.Gly148=) n.584G= | |
| 3 | g.128480995C>G | CA83376155 | GATA2 | c.*24G>C (n.*24G>C) c.442G>C (p.Gly148Arg) n.584G>C | dbSNP gnomAD v4 |
| 3 | g.128480995C>T | CA2599766 | GATA2 | c.*24G>A (n.*24G>A) c.442G>A (p.Gly148Arg) n.584G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128480996G>A | CA2599767 | GATA2 | c.*23C>T (n.*23C>T) c.441C>T (p.Thr147=) n.583C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128480996G>C | CA2577890670 | GATA2 | c.*23C>G (n.*23C>G) c.441C>G (p.Thr147=) n.583C>G | |
| 3 | g.128480996G= | CA1400713625 | GATA2 | c.*23C= (n.*23C=) c.441C= (p.Thr147=) n.583C= | |
| 3 | g.128480996G>T | CA1400713626 | GATA2 | c.*23C>A (n.*23C>A) c.441C>A (p.Thr147=) n.583C>A | dbSNP gnomAD v4 |
| 3 | g.128480997G>C | CA2667540254 | GATA2 | c.*22C>G (n.*22C>G) c.440C>G (p.Thr147Ser) n.582C>G | gnomAD v4 |
| 3 | g.128480998T>G | CA2703921658 | GATA2 | c.*21A>C (n.*21A>C) c.439A>C (p.Thr147Pro) n.581A>C | dbSNP |
| 3 | g.128480999C>A | CA2667540255 | GATA2 | c.*20G>T (n.*20G>T) c.438G>T (p.Arg146Ser) n.580G>T | gnomAD v4 |
| 3 | g.128480999C>G | CA2577890671 | GATA2 | c.*20G>C (n.*20G>C) c.438G>C (p.Arg146Ser) n.580G>C | gnomAD v4 |
| 3 | g.128481000C>A | CA2667540256 | GATA2 | c.*19G>T (n.*19G>T) c.437G>T (p.Arg146Met) n.579G>T | gnomAD v4 |
| 3 | g.128481000C>T | CA2667540257 | GATA2 | c.*19G>A (n.*19G>A) c.437G>A (p.Arg146Lys) n.579G>A | gnomAD v4 |
| 3 | g.128481002C>A | CA546105437 | GATA2 | c.*17G>T (n.*17G>T) c.435G>T (p.Ser145=) n.577G>T | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481002C= | CA1400713630 | GATA2 | c.*17G= (n.*17G=) c.435G= (p.Ser145=) n.577G= | |
| 3 | g.128481002C>T | CA2599768 | GATA2 | c.*17G>A (n.*17G>A) c.435G>A (p.Ser145=) n.577G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481003G>A | CA2599769 | GATA2 | c.*16C>T (n.*16C>T) c.434C>T (p.Ser145Leu) n.576C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481003G>C | CA2667540258 | GATA2 | c.*16C>G (n.*16C>G) c.434C>G (p.Ser145Trp) n.576C>G | gnomAD v4 |
| 3 | g.128481003G= | CA1400713632 | GATA2 | c.*16C= (n.*16C=) c.434C= (p.Ser145=) n.576C= | |
| 3 | g.128481003G>T | CA2667540259 | GATA2 | c.*16C>A (n.*16C>A) c.434C>A (p.Ser145Ter) n.576C>A | gnomAD v4 |
| 3 | g.128481004A>C | CA2667540260 | GATA2 | c.*15T>G (n.*15T>G) c.433T>G (p.Ser145Ala) n.575T>G | gnomAD v4 |
| 3 | g.128481005C= | CA1400713635 | GATA2 | c.*14G= (n.*14G=) c.432G= (p.Thr144=) n.574G= | |
| 3 | g.128481005C>T | CA83376161 | GATA2 | c.*14G>A (n.*14G>A) c.432G>A (p.Thr144=) n.574G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481006G>A | CA2599770 | GATA2 | c.*13C>T (n.*13C>T) c.431C>T (p.Thr144Met) n.573C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481006G= | CA1400713643 | GATA2 | c.*13C= (n.*13C=) c.431C= (p.Thr144=) n.573C= | |
| 3 | g.128481006G>T | CA546105440 | GATA2 | c.*13C>A (n.*13C>A) c.431C>A (p.Thr144Lys) n.573C>A | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481008C>G | CA2703921760 | GATA2 | c.*11G>C (n.*11G>C) c.429G>C (p.Trp143Cys) n.571G>C | dbSNP |
| 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 |