| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128485200_128487231del | CA358451 | GATA2 | c.-45-155_871+527del c.238-155_1153+527del | ClinVar |
| 3 | g.128485206_128487871del | CA916081440 | GATA2 | c.-200_871+527del c.83_1153+527del c.-45-789_871+527del | |
| 3 | g.128485902G>A | CA435764007 | GATA2 | c.696C>T (p.Gly232=) c.978C>T (p.Gly326=) | |
| 3 | g.128485902G>C | CA435764009 | GATA2 | c.696C>G (p.Gly232=) c.978C>G (p.Gly326=) | |
| 3 | g.128485902G>T | CA435764010 | GATA2 | c.696C>A (p.Gly232=) c.978C>A (p.Gly326=) | gnomAD v4 |
| 3 | g.128485903C>A | CA354406230 | GATA2 | c.695G>T (p.Gly232Val) c.977G>T (p.Gly326Val) | dbSNP |
| 3 | g.128485903C= | CA1400719287 | GATA2 | c.695G= (p.Gly232=) c.977G= (p.Gly326=) | |
| 3 | g.128485903C>G | CA354406231 | GATA2 | c.695G>C (p.Gly232Ala) c.977G>C (p.Gly326Ala) | ClinVar dbSNP |
| 3 | g.128485903C>T | CA354406232 | GATA2 | c.695G>A (p.Gly232Asp) c.977G>A (p.Gly326Asp) | dbSNP gnomAD v4 |
| 3 | g.128485904C>A | CA354406235 | GATA2 | c.694G>T (p.Gly232Cys) c.976G>T (p.Gly326Cys) | |
| 3 | g.128485904C>G | CA354406233 | GATA2 | c.694G>C (p.Gly232Arg) c.976G>C (p.Gly326Arg) | |
| 3 | g.128485904C>T | CA354406234 | GATA2 | c.694G>A (p.Gly232Ser) c.976G>A (p.Gly326Ser) | gnomAD v4 |
| 3 | g.128485905T>A | CA435764013 | GATA2 | c.693A>T (p.Pro231=) c.975A>T (p.Pro325=) | |
| 3 | g.128485905T>C | CA435764015 | GATA2 | c.693A>G (p.Pro231=) c.975A>G (p.Pro325=) | |
| 3 | g.128485905T>G | CA435764016 | GATA2 | c.693A>C (p.Pro231=) c.975A>C (p.Pro325=) | |
| 3 | g.128485906G>A | CA354406236 | GATA2 | c.692C>T (p.Pro231Leu) c.974C>T (p.Pro325Leu) | |
| 3 | g.128485906G>C | CA354406237 | GATA2 | c.692C>G (p.Pro231Arg) c.974C>G (p.Pro325Arg) | gnomAD v4 |
| 3 | g.128485906G>T | CA354406238 | GATA2 | c.692C>A (p.Pro231Gln) c.974C>A (p.Pro325Gln) | |
| 3 | g.128485907G>A | CA354406239 | GATA2 | c.691C>T (p.Pro231Ser) c.973C>T (p.Pro325Ser) | gnomAD v4 COSMIC |
| 3 | g.128485907G>C | CA354406240 | GATA2 | c.691C>G (p.Pro231Ala) c.973C>G (p.Pro325Ala) | |
| 3 | g.128485907G>T | CA354406241 | GATA2 | c.691C>A (p.Pro231Thr) c.973C>A (p.Pro325Thr) | |
| 3 | g.128485908G>A | CA435764018 | GATA2 | c.690C>T (p.Arg230=) c.972C>T (p.Arg324=) | gnomAD v4 |
| 3 | g.128485908G>C | CA435764020 | GATA2 | c.690C>G (p.Arg230=) c.972C>G (p.Arg324=) | |
| 3 | g.128485908G>T | CA435764022 | GATA2 | c.690C>A (p.Arg230=) c.972C>A (p.Arg324=) | |
| 3 | g.128485909C>A | CA354406244 | GATA2 | c.689G>T (p.Arg230Leu) c.971G>T (p.Arg324Leu) | ClinVar dbSNP |
| 3 | g.128485909C= | CA1400719288 | GATA2 | c.689G= (p.Arg230=) c.971G= (p.Arg324=) | |
| 3 | g.128485909C>G | CA354406243 | GATA2 | c.689G>C (p.Arg230Pro) c.971G>C (p.Arg324Pro) | |
| 3 | g.128485909C>T | CA354406242 | GATA2 | c.689G>A (p.Arg230His) c.971G>A (p.Arg324His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485910G>A | CA2599977 | GATA2 | c.688C>T (p.Arg230Cys) c.970C>T (p.Arg324Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128485910G>C | CA354406245 | GATA2 | c.688C>G (p.Arg230Gly) c.970C>G (p.Arg324Gly) | ClinVar dbSNP |
| 3 | g.128485910G= | CA1400719289 | GATA2 | c.688C= (p.Arg230=) c.970C= (p.Arg324=) | |
| 3 | g.128485910G>T | CA354406246 | GATA2 | c.688C>A (p.Arg230Ser) c.970C>A (p.Arg324Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485911C>A | CA435764023 | GATA2 | c.687G>T (p.Leu229=) c.969G>T (p.Leu323=) | |
| 3 | g.128485911C>G | CA435764024 | GATA2 | c.687G>C (p.Leu229=) c.969G>C (p.Leu323=) | |
| 3 | g.128485911C>T | CA435764026 | GATA2 | c.687G>A (p.Leu229=) c.969G>A (p.Leu323=) | ClinVar |
| 3 | g.128485912A>C | CA354406247 | GATA2 | c.686T>G (p.Leu229Arg) c.968T>G (p.Leu323Arg) | |
| 3 | g.128485912A>G | CA354406249 | GATA2 | c.686T>C (p.Leu229Pro) c.968T>C (p.Leu323Pro) | |
| 3 | g.128485912A>T | CA354406248 | GATA2 | c.686T>A (p.Leu229Gln) c.968T>A (p.Leu323Gln) | |
| 3 | g.128485913G>A | CA435764027 | GATA2 | c.685C>T (p.Leu229=) c.967C>T (p.Leu323=) | |
| 3 | g.128485913G>C | CA354406250 | GATA2 | c.685C>G (p.Leu229Val) c.967C>G (p.Leu323Val) | |
| 3 | g.128485913G>T | CA354406251 | GATA2 | c.685C>A (p.Leu229Met) c.967C>A (p.Leu323Met) | |
| 3 | g.128485916del | CA1139532791 | GATA2 | c.685del (p.Leu229CysfsTer5) c.967del (p.Leu323CysfsTer5) | ClinVar dbSNP |
| 3 | g.128485914G>A | CA435764029 | GATA2 | c.684C>T (p.Pro228=) c.966C>T (p.Pro322=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128485914G>C | CA435764031 | GATA2 | c.684C>G (p.Pro228=) c.966C>G (p.Pro322=) | |
| 3 | g.128485914G= | CA1400719290 | GATA2 | c.684C= (p.Pro228=) c.966C= (p.Pro322=) | |
| 3 | g.128485914G>T | CA83371829 | GATA2 | c.684C>A (p.Pro228=) c.966C>A (p.Pro322=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485915G>A | CA354406252 | GATA2 | c.683C>T (p.Pro228Leu) c.965C>T (p.Pro322Leu) | ClinVar gnomAD v4 COSMIC |
| 3 | g.128485915G>C | CA354406253 | GATA2 | c.683C>G (p.Pro228Arg) c.965C>G (p.Pro322Arg) | |
| 3 | g.128485915G>T | CA354406254 | GATA2 | c.683C>A (p.Pro228His) c.965C>A (p.Pro322His) | |
| 3 | g.128485915_128485918del | CA2586965903 | GATA2 | c.680_683del (p.Ser227ThrfsTer6) c.962_965del (p.Ser321ThrfsTer6) | |
| 3 | g.128485916G>A | CA2599978 | GATA2 | c.682C>T (p.Pro228Ser) c.964C>T (p.Pro322Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128485916G>C | CA354406255 | GATA2 | c.682C>G (p.Pro228Ala) c.964C>G (p.Pro322Ala) | |
| 3 | g.128485916G= | CA1400719291 | GATA2 | c.682C= (p.Pro228=) c.964C= (p.Pro322=) | |
| 3 | g.128485916G>T | CA16611247 | GATA2 | c.682C>A (p.Pro228Thr) c.964C>A (p.Pro322Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485917A= | CA1400719292 | GATA2 | c.681T= (p.Ser227=) c.963T= (p.Ser321=) | |
| 3 | g.128485917A>C | CA354406256 | GATA2 | c.681T>G (p.Ser227Arg) c.963T>G (p.Ser321Arg) | dbSNP |
| 3 | g.128485917A>G | CA435764034 | GATA2 | c.681T>C (p.Ser227=) c.963T>C (p.Ser321=) | |
| 3 | g.128485917A>T | CA354406257 | GATA2 | c.681T>A (p.Ser227Arg) c.963T>A (p.Ser321Arg) | |
| 3 | g.128485918C>A | CA354406260 | GATA2 | c.680G>T (p.Ser227Ile) c.962G>T (p.Ser321Ile) | |
| 3 | g.128485918C= | CA1400719293 | GATA2 | c.680G= (p.Ser227=) c.962G= (p.Ser321=) | |
| 3 | g.128485918C>G | CA354406259 | GATA2 | c.680G>C (p.Ser227Thr) c.962G>C (p.Ser321Thr) | dbSNP |
| 3 | g.128485918C>T | CA354406258 | GATA2 | c.680G>A (p.Ser227Asn) c.962G>A (p.Ser321Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485919T>A | CA354406261 | GATA2 | c.679A>T (p.Ser227Cys) c.961A>T (p.Ser321Cys) | |
| 3 | g.128485919T>C | CA354406262 | GATA2 | c.679A>G (p.Ser227Gly) c.961A>G (p.Ser321Gly) | |
| 3 | g.128485919T>G | CA354406263 | GATA2 | c.679A>C (p.Ser227Arg) c.961A>C (p.Ser321Arg) | |
| 3 | g.128485920G>A | CA435764036 | GATA2 | c.678C>T (p.Gly226=) c.960C>T (p.Gly320=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485920G>C | CA435764038 | GATA2 | c.678C>G (p.Gly226=) c.960C>G (p.Gly320=) | ClinVar dbSNP |
| 3 | g.128485920G>T | CA435764040 | GATA2 | c.678C>A (p.Gly226=) c.960C>A (p.Gly320=) | |
| 3 | g.128485921C>A | CA354406264 | GATA2 | c.677G>T (p.Gly226Val) c.959G>T (p.Gly320Val) | |
| 3 | g.128485921C>G | CA354406265 | GATA2 | c.677G>C (p.Gly226Ala) c.959G>C (p.Gly320Ala) | |
| 3 | g.128485921C>T | CA354406266 | GATA2 | c.677G>A (p.Gly226Asp) c.959G>A (p.Gly320Asp) | ClinVar dbSNP |
| 3 | g.128485922C>A | CA354406267 | GATA2 | c.676G>T (p.Gly226Cys) c.958G>T (p.Gly320Cys) | |
| 3 | g.128485922C>G | CA354406268 | GATA2 | c.676G>C (p.Gly226Arg) c.958G>C (p.Gly320Arg) | |
| 3 | g.128485922C>T | CA354406269 | GATA2 | c.676G>A (p.Gly226Ser) c.958G>A (p.Gly320Ser) | ClinVar dbSNP |
| 3 | g.128485923A= | CA1400719294 | GATA2 | c.675T= (p.Ser225=) c.957T= (p.Ser319=) | |
| 3 | g.128485923A>C | CA354406270 | GATA2 | c.675T>G (p.Ser225Arg) c.957T>G (p.Ser319Arg) | dbSNP |
| 3 | g.128485923A>G | CA435764042 | GATA2 | c.675T>C (p.Ser225=) c.957T>C (p.Ser319=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485923A>T | CA354406271 | GATA2 | c.675T>A (p.Ser225Arg) c.957T>A (p.Ser319Arg) | |
| 3 | g.128485923_128485942del | CA2740090991 | GATA2 | c.656_675del (p.Glu219GlyfsTer?) c.938_957del (p.Glu313GlyfsTer?) | ClinVar |
| 3 | g.128485924C>A | CA354406272 | GATA2 | c.674G>T (p.Ser225Ile) c.956G>T (p.Ser319Ile) | ClinVar dbSNP |
| 3 | g.128485924C= | CA1400719295 | GATA2 | c.674G= (p.Ser225=) c.956G= (p.Ser319=) | |
| 3 | g.128485924C>G | CA354406273 | GATA2 | c.674G>C (p.Ser225Thr) c.956G>C (p.Ser319Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485924C>T | CA2599979 | GATA2 | c.674G>A (p.Ser225Asn) c.956G>A (p.Ser319Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485925T>A | CA354406274 | GATA2 | c.673A>T (p.Ser225Cys) c.955A>T (p.Ser319Cys) | |
| 3 | g.128485925T>C | CA354406275 | GATA2 | c.673A>G (p.Ser225Gly) c.955A>G (p.Ser319Gly) | ClinVar gnomAD v4 |
| 3 | g.128485925T>G | CA354406276 | GATA2 | c.673A>C (p.Ser225Arg) c.955A>C (p.Ser319Arg) | |
| 3 | g.128485926T>A | CA354406277 | GATA2 | c.672A>T (p.Glu224Asp) c.954A>T (p.Glu318Asp) | |
| 3 | g.128485926T>C | CA435764044 | GATA2 | c.672A>G (p.Glu224=) c.954A>G (p.Glu318=) | |
| 3 | g.128485926T>G | CA354406278 | GATA2 | c.672A>C (p.Glu224Asp) c.954A>C (p.Glu318Asp) | |
| 3 | g.128485927T>A | CA354406279 | GATA2 | c.671A>T (p.Glu224Val) c.953A>T (p.Glu318Val) | |
| 3 | g.128485927T>C | CA354406280 | GATA2 | c.671A>G (p.Glu224Gly) c.953A>G (p.Glu318Gly) | |
| 3 | g.128485927T>G | CA354406281 | GATA2 | c.671A>C (p.Glu224Ala) c.953A>C (p.Glu318Ala) | |
| 3 | g.128485928C>A | CA354406282 | GATA2 | c.670G>T (p.Glu224Ter) c.952G>T (p.Glu318Ter) | ClinVar dbSNP |
| 3 | g.128485928C>G | CA354406283 | GATA2 | c.670G>C (p.Glu224Gln) c.952G>C (p.Glu318Gln) | gnomAD v4 |
| 3 | g.128485928C>T | CA354406284 | GATA2 | c.670G>A (p.Glu224Lys) c.952G>A (p.Glu318Lys) | |
| 3 | g.128485929C>A | CA354406285 | GATA2 | c.669G>T (p.Met223Ile) c.951G>T (p.Met317Ile) | |
| 3 | g.128485929C= | CA1400719296 | GATA2 | c.669G= (p.Met223=) c.951G= (p.Met317=) | |
| 3 | g.128485929C>G | CA354406286 | GATA2 | c.669G>C (p.Met223Ile) c.951G>C (p.Met317Ile) | |
| 3 | g.128485929C>T | CA2599980 | GATA2 | c.669G>A (p.Met223Ile) c.951G>A (p.Met317Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485930A>C | CA354406287 | GATA2 | c.668T>G (p.Met223Arg) c.950T>G (p.Met317Arg) | |
| 3 | g.128485930A>G | CA354406288 | GATA2 | c.668T>C (p.Met223Thr) c.950T>C (p.Met317Thr) | |
| 3 | g.128485930A>T | CA354406289 | GATA2 | c.668T>A (p.Met223Lys) c.950T>A (p.Met317Lys) | |
| 3 | g.128485931T>A | CA354406290 | GATA2 | c.667A>T (p.Met223Leu) c.949A>T (p.Met317Leu) | |
| 3 | g.128485931T>C | CA354406291 | GATA2 | c.667A>G (p.Met223Val) c.949A>G (p.Met317Val) | |
| 3 | g.128485931T>G | CA354406292 | GATA2 | c.667A>C (p.Met223Leu) c.949A>C (p.Met317Leu) | |
| 3 | g.128485932C>A | CA354406293 | GATA2 | c.666G>T (p.Lys222Asn) c.948G>T (p.Lys316Asn) | ClinVar |
| 3 | g.128485932C>G | CA354406294 | GATA2 | c.666G>C (p.Lys222Asn) c.948G>C (p.Lys316Asn) | |
| 3 | g.128485932C>T | CA435764051 | GATA2 | c.666G>A (p.Lys222=) c.948G>A (p.Lys316=) | COSMIC |
| 3 | g.128485933T>A | CA354406295 | GATA2 | c.665A>T (p.Lys222Met) c.947A>T (p.Lys316Met) | |
| 3 | g.128485933T>C | CA354406296 | GATA2 | c.665A>G (p.Lys222Arg) c.947A>G (p.Lys316Arg) | |
| 3 | g.128485933T>G | CA354406297 | GATA2 | c.665A>C (p.Lys222Thr) c.947A>C (p.Lys316Thr) | |
| 3 | g.128485934T>A | CA354406298 | GATA2 | c.664A>T (p.Lys222Ter) c.946A>T (p.Lys316Ter) | |
| 3 | g.128485934T>C | CA354406299 | GATA2 | c.664A>G (p.Lys222Glu) c.946A>G (p.Lys316Glu) | |
| 3 | g.128485934T>G | CA354406300 | GATA2 | c.664A>C (p.Lys222Gln) c.946A>C (p.Lys316Gln) | |
| 3 | g.128485935C>A | CA354406302 | GATA2 | c.663G>T (p.Met221Ile) c.945G>T (p.Met315Ile) | ClinVar |
| 3 | g.128485935C>G | CA354406303 | GATA2 | c.663G>C (p.Met221Ile) c.945G>C (p.Met315Ile) | |
| 3 | g.128485935C>T | CA354406301 | GATA2 | c.663G>A (p.Met221Ile) c.945G>A (p.Met315Ile) | ClinVar dbSNP |
| 3 | g.128485936A>C | CA354406304 | GATA2 | c.662T>G (p.Met221Arg) c.944T>G (p.Met315Arg) | gnomAD v4 |
| 3 | g.128485936A>G | CA354406305 | GATA2 | c.662T>C (p.Met221Thr) c.944T>C (p.Met315Thr) | |
| 3 | g.128485936A>T | CA354406306 | GATA2 | c.662T>A (p.Met221Lys) c.944T>A (p.Met315Lys) | |
| 3 | g.128485937T>A | CA354406307 | GATA2 | c.661A>T (p.Met221Leu) c.943A>T (p.Met315Leu) | gnomAD v4 COSMIC |
| 3 | g.128485937T>C | CA354406308 | GATA2 | c.661A>G (p.Met221Val) c.943A>G (p.Met315Val) | |
| 3 | g.128485937T>G | CA354406309 | GATA2 | c.661A>C (p.Met221Leu) c.943A>C (p.Met315Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485937T= | CA1400719297 | GATA2 | c.661A= (p.Met221=) c.943A= (p.Met315=) | |
| 3 | g.128485938G>A | CA435764056 | GATA2 | c.660C>T (p.Ser220=) c.942C>T (p.Ser314=) | ClinVar dbSNP |
| 3 | g.128485938G>C | CA354406311 | GATA2 | c.660C>G (p.Ser220Arg) c.942C>G (p.Ser314Arg) | |
| 3 | g.128485938G= | CA1400719298 | GATA2 | c.660C= (p.Ser220=) c.942C= (p.Ser314=) | |
| 3 | g.128485938G>T | CA354406310 | GATA2 | c.660C>A (p.Ser220Arg) c.942C>A (p.Ser314Arg) | |
| 3 | g.128485939C>A | CA354406312 | GATA2 | c.659G>T (p.Ser220Ile) c.941G>T (p.Ser314Ile) | ClinVar dbSNP |
| 3 | g.128485939C= | CA1400719299 | GATA2 | c.659G= (p.Ser220=) c.941G= (p.Ser314=) | |
| 3 | g.128485939C>G | CA354406313 | GATA2 | c.659G>C (p.Ser220Thr) c.941G>C (p.Ser314Thr) | gnomAD v4 |
| 3 | g.128485939C>T | CA354406314 | GATA2 | c.659G>A (p.Ser220Asn) c.941G>A (p.Ser314Asn) | |
| 3 | g.128485940T>A | CA354406315 | GATA2 | c.658A>T (p.Ser220Cys) c.940A>T (p.Ser314Cys) | |
| 3 | g.128485940T>C | CA354406316 | GATA2 | c.658A>G (p.Ser220Gly) c.940A>G (p.Ser314Gly) | |
| 3 | g.128485940T>G | CA354406317 | GATA2 | c.658A>C (p.Ser220Arg) c.940A>C (p.Ser314Arg) | |
| 3 | g.128485941C>A | CA354406319 | GATA2 | c.657G>T (p.Glu219Asp) c.939G>T (p.Glu313Asp) | ClinVar dbSNP |
| 3 | g.128485941C= | CA1400719300 | GATA2 | c.657G= (p.Glu219=) c.939G= (p.Glu313=) | |
| 3 | g.128485941C>G | CA354406318 | GATA2 | c.657G>C (p.Glu219Asp) c.939G>C (p.Glu313Asp) | |
| 3 | g.128485941C>T | CA2599981 | GATA2 | c.657G>A (p.Glu219=) c.939G>A (p.Glu313=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485942T>A | CA354406320 | GATA2 | c.656A>T (p.Glu219Val) c.938A>T (p.Glu313Val) | |
| 3 | g.128485942T>C | CA354406321 | GATA2 | c.656A>G (p.Glu219Gly) c.938A>G (p.Glu313Gly) | |
| 3 | g.128485942T>G | CA354406322 | GATA2 | c.656A>C (p.Glu219Ala) c.938A>C (p.Glu313Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485942T= | CA1400719301 | GATA2 | c.656A= (p.Glu219=) c.938A= (p.Glu313=) | |
| 3 | g.128485943C>A | CA354406323 | GATA2 | c.655G>T (p.Glu219Ter) c.937G>T (p.Glu313Ter) | |
| 3 | g.128485943C>G | CA354406324 | GATA2 | c.655G>C (p.Glu219Gln) c.937G>C (p.Glu313Gln) | |
| 3 | g.128485943C>T | CA354406325 | GATA2 | c.655G>A (p.Glu219Lys) c.937G>A (p.Glu313Lys) | |
| 3 | g.128485944dup | CA915941567 | GATA2 | c.655dup (p.Glu219GlyfsTer?) c.937dup (p.Glu313GlyfsTer?) | ClinVar dbSNP |
| 3 | g.128485943_128485944dup | CA2580618286 | GATA2 | c.654_655dup (p.Glu219GlyfsTer4) c.936_937dup (p.Glu313GlyfsTer4) | |
| 3 | g.128485944C>A | CA435764060 | GATA2 | c.654G>T (p.Thr218=) c.936G>T (p.Thr312=) | |
| 3 | g.128485944C= | CA1400719302 | GATA2 | c.654G= (p.Thr218=) c.936G= (p.Thr312=) | |
| 3 | g.128485944C>G | CA435764061 | GATA2 | c.654G>C (p.Thr218=) c.936G>C (p.Thr312=) | gnomAD v4 |
| 3 | g.128485944C>T | CA2599982 | GATA2 | c.654G>A (p.Thr218=) c.936G>A (p.Thr312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485945G>A | CA354406326 | GATA2 | c.653C>T (p.Thr218Met) c.935C>T (p.Thr312Met) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485945G>C | CA354406327 | GATA2 | c.653C>G (p.Thr218Arg) c.935C>G (p.Thr312Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485945G= | CA1400719303 | GATA2 | c.653C= (p.Thr218=) c.935C= (p.Thr312=) | |
| 3 | g.128485945G>T | CA354406328 | GATA2 | c.653C>A (p.Thr218Lys) c.935C>A (p.Thr312Lys) | ClinVar gnomAD v4 |
| 3 | g.128485945_128485949dup | CA658796373 | GATA2 | c.649_653dup (p.Glu219Ter) c.931_935dup (p.Glu313Ter) | ClinVar dbSNP |
| 3 | g.128485946T>A | CA354406329 | GATA2 | c.652A>T (p.Thr218Ser) c.934A>T (p.Thr312Ser) | |
| 3 | g.128485946T>C | CA354406330 | GATA2 | c.652A>G (p.Thr218Ala) c.934A>G (p.Thr312Ala) | |
| 3 | g.128485946T>G | CA354406331 | GATA2 | c.652A>C (p.Thr218Pro) c.934A>C (p.Thr312Pro) | |
| 3 | g.128485947C>A | CA435764064 | GATA2 | c.651G>T (p.Leu217=) c.933G>T (p.Leu311=) | |
| 3 | g.128485947C>G | CA435764065 | GATA2 | c.651G>C (p.Leu217=) c.933G>C (p.Leu311=) | |
| 3 | g.128485947C>T | CA435764066 | GATA2 | c.651G>A (p.Leu217=) c.933G>A (p.Leu311=) | |
| 3 | g.128485948A>C | CA354406332 | GATA2 | c.650T>G (p.Leu217Arg) c.932T>G (p.Leu311Arg) | |
| 3 | g.128485948A>G | CA354406334 | GATA2 | c.650T>C (p.Leu217Pro) c.932T>C (p.Leu311Pro) | |
| 3 | g.128485948A>T | CA354406333 | GATA2 | c.650T>A (p.Leu217Gln) c.932T>A (p.Leu311Gln) | |
| 3 | g.128485949G>A | CA2599983 | GATA2 | c.649C>T (p.Leu217=) c.931C>T (p.Leu311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485949G>C | CA354406335 | GATA2 | c.649C>G (p.Leu217Val) c.931C>G (p.Leu311Val) | |
| 3 | g.128485949G= | CA1400719304 | GATA2 | c.649C= (p.Leu217=) c.931C= (p.Leu311=) | |
| 3 | g.128485949G>T | CA354406336 | GATA2 | c.649C>A (p.Leu217Met) c.931C>A (p.Leu311Met) | |
| 3 | g.128485949_128485950insCGTCTGAACGGCGAAGTATTGGGGATTCAGTGCAATCTCATCGATTTTCTGCGCCCCCTTTCGAT | CA2758339379 | GATA2 | c.648_649insATCGAAAGGGGGCGCAGAAAATCGATGAGATTGCACTGAATCCCCAATACTTCGCCGTTCAGACG (p.Leu217IlefsTer13) c.930_931insATCGAAAGGGGGCGCAGAAAATCGATGAGATTGCACTGAATCCCCAATACTTCGCCGTTCAGACG (p.Leu311IlefsTer13) | |
| 3 | g.128485950T>A | CA435764069 | GATA2 | c.648A>T (p.Ser216=) c.930A>T (p.Ser310=) | |
| 3 | g.128485950T>C | CA435764070 | GATA2 | c.648A>G (p.Ser216=) c.930A>G (p.Ser310=) | |
| 3 | g.128485950T>G | CA435764071 | GATA2 | c.648A>C (p.Ser216=) c.930A>C (p.Ser310=) | |
| 3 | g.128485951G>A | CA354406337 | GATA2 | c.647C>T (p.Ser216Leu) c.929C>T (p.Ser310Leu) | ClinVar gnomAD v4 |
| 3 | g.128485951G>C | CA354406338 | GATA2 | c.647C>G (p.Ser216Ter) c.929C>G (p.Ser310Ter) | |
| 3 | g.128485951G>T | CA354406339 | GATA2 | c.647C>A (p.Ser216Ter) c.929C>A (p.Ser310Ter) | |
| 3 | g.128485952A>C | CA354406340 | GATA2 | c.646T>G (p.Ser216Ala) c.928T>G (p.Ser310Ala) | |
| 3 | g.128485952A>G | CA354406341 | GATA2 | c.646T>C (p.Ser216Pro) c.928T>C (p.Ser310Pro) | |
| 3 | g.128485952A>T | CA354406342 | GATA2 | c.646T>A (p.Ser216Thr) c.928T>A (p.Ser310Thr) | |
| 3 | g.128485953C>A | CA435764074 | GATA2 | c.645G>T (p.Val215=) c.927G>T (p.Val309=) | |
| 3 | g.128485953C>G | CA435764076 | GATA2 | c.645G>C (p.Val215=) c.927G>C (p.Val309=) | |
| 3 | g.128485953C>T | CA435764077 | GATA2 | c.645G>A (p.Val215=) c.927G>A (p.Val309=) | ClinVar |
| 3 | g.128485954A>C | CA354406343 | GATA2 | c.644T>G (p.Val215Gly) c.926T>G (p.Val309Gly) | |
| 3 | g.128485954A>G | CA354406344 | GATA2 | c.644T>C (p.Val215Ala) c.926T>C (p.Val309Ala) | |
| 3 | g.128485954A>T | CA354406345 | GATA2 | c.644T>A (p.Val215Glu) c.926T>A (p.Val309Glu) | |
| 3 | g.128485955C>A | CA354406347 | GATA2 | c.643G>T (p.Val215Leu) c.925G>T (p.Val309Leu) | |
| 3 | g.128485955C>G | CA354406348 | GATA2 | c.643G>C (p.Val215Leu) c.925G>C (p.Val309Leu) | |
| 3 | g.128485955C>T | CA354406346 | GATA2 | c.643G>A (p.Val215Met) c.925G>A (p.Val309Met) | ClinVar |
| 3 | g.128485957_128485970del | CA1139768473 | GATA2 | c.630_643del (p.Lys212ThrfsTer?) c.912_925del (p.Lys306ThrfsTer?) | |
| 3 | g.128485956C>A | CA354406349 | GATA2 | c.642G>T (p.Gln214His) c.924G>T (p.Gln308His) | |
| 3 | g.128485956C>G | CA354406350 | GATA2 | c.642G>C (p.Gln214His) c.924G>C (p.Gln308His) | gnomAD v4 COSMIC |
| 3 | g.128485956C>T | CA435764081 | GATA2 | c.642G>A (p.Gln214=) c.924G>A (p.Gln308=) | |
| 3 | g.128485957T>A | CA354406351 | GATA2 | c.641A>T (p.Gln214Leu) c.923A>T (p.Gln308Leu) | |
| 3 | g.128485957T>C | CA354406352 | GATA2 | c.641A>G (p.Gln214Arg) c.923A>G (p.Gln308Arg) | |
| 3 | g.128485957T>G | CA354406353 | GATA2 | c.641A>C (p.Gln214Pro) c.923A>C (p.Gln308Pro) | |
| 3 | g.128485958G>A | CA354406356 | GATA2 | c.640C>T (p.Gln214Ter) c.922C>T (p.Gln308Ter) | |
| 3 | g.128485958G>C | CA354406354 | GATA2 | c.640C>G (p.Gln214Glu) c.922C>G (p.Gln308Glu) | |
| 3 | g.128485958G>T | CA354406355 | GATA2 | c.640C>A (p.Gln214Lys) c.922C>A (p.Gln308Lys) | |
| 3 | g.128485959G>A | CA2599984 | GATA2 | c.639C>T (p.Tyr213=) c.921C>T (p.Tyr307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485959G>C | CA354406357 | GATA2 | c.639C>G (p.Tyr213Ter) c.921C>G (p.Tyr307Ter) | |
| 3 | g.128485959G= | CA1400719305 | GATA2 | c.639C= (p.Tyr213=) c.921C= (p.Tyr307=) | |
| 3 | g.128485959G>T | CA354406358 | GATA2 | c.639C>A (p.Tyr213Ter) c.921C>A (p.Tyr307Ter) | |
| 3 | g.128485960T>A | CA354406359 | GATA2 | c.638A>T (p.Tyr213Phe) c.920A>T (p.Tyr307Phe) | COSMIC |
| 3 | g.128485960T>C | CA354406360 | GATA2 | c.638A>G (p.Tyr213Cys) c.920A>G (p.Tyr307Cys) | gnomAD v4 |
| 3 | g.128485960T>G | CA354406361 | GATA2 | c.638A>C (p.Tyr213Ser) c.920A>C (p.Tyr307Ser) | |
| 3 | g.128485961A>C | CA354406363 | GATA2 | c.637T>G (p.Tyr213Asp) c.919T>G (p.Tyr307Asp) | |
| 3 | g.128485961A>G | CA354406364 | GATA2 | c.637T>C (p.Tyr213His) c.919T>C (p.Tyr307His) | ClinVar |
| 3 | g.128485961A>T | CA354406362 | GATA2 | c.637T>A (p.Tyr213Asn) c.919T>A (p.Tyr307Asn) | |
| 3 | g.128485962C>A | CA354406365 | GATA2 | c.636G>T (p.Lys212Asn) c.918G>T (p.Lys306Asn) | ClinVar dbSNP |
| 3 | g.128485962C= | CA1400719306 | GATA2 | c.636G= (p.Lys212=) c.918G= (p.Lys306=) | |
| 3 | g.128485962C>G | CA354406366 | GATA2 | c.636G>C (p.Lys212Asn) c.918G>C (p.Lys306Asn) | |
| 3 | g.128485962C>T | CA435764086 | GATA2 | c.636G>A (p.Lys212=) c.918G>A (p.Lys306=) | |
| 3 | g.128485963T>A | CA354406367 | GATA2 | c.635A>T (p.Lys212Met) c.917A>T (p.Lys306Met) | |
| 3 | g.128485963T>C | CA354406369 | GATA2 | c.635A>G (p.Lys212Arg) c.917A>G (p.Lys306Arg) | |
| 3 | g.128485963T>G | CA354406368 | GATA2 | c.635A>C (p.Lys212Thr) c.917A>C (p.Lys306Thr) | |
| 3 | g.128485964T>A | CA354406370 | GATA2 | c.634A>T (p.Lys212Ter) c.916A>T (p.Lys306Ter) | |
| 3 | g.128485964T>C | CA354406372 | GATA2 | c.634A>G (p.Lys212Glu) c.916A>G (p.Lys306Glu) | gnomAD v4 |
| 3 | g.128485964T>G | CA354406371 | GATA2 | c.634A>C (p.Lys212Gln) c.916A>C (p.Lys306Gln) | |
| 3 | g.128485965G>A | CA435764087 | GATA2 | c.633C>T (p.Val211=) c.915C>T (p.Val305=) | |
| 3 | g.128485965G>C | CA2599985 | GATA2 | c.633C>G (p.Val211=) c.915C>G (p.Val305=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485965G= | CA1400719307 | GATA2 | c.633C= (p.Val211=) c.915C= (p.Val305=) | |
| 3 | g.128485965G>T | CA435764088 | GATA2 | c.633C>A (p.Val211=) c.915C>A (p.Val305=) | |
| 3 | g.128485966A= | CA1400719308 | GATA2 | c.632T= (p.Val211=) c.914T= (p.Val305=) | |
| 3 | g.128485966A>C | CA354406373 | GATA2 | c.632T>G (p.Val211Gly) c.914T>G (p.Val305Gly) | |
| 3 | g.128485966A>G | CA354406374 | GATA2 | c.632T>C (p.Val211Ala) c.914T>C (p.Val305Ala) | ClinVar dbSNP |
| 3 | g.128485966A>T | CA354406375 | GATA2 | c.632T>A (p.Val211Asp) c.914T>A (p.Val305Asp) | dbSNP |
| 3 | g.128485967del | CA2586965905 | GATA2 | c.631del (p.Val211SerfsTer7) c.913del (p.Val305SerfsTer7) | |
| 3 | g.128485967C>A | CA354406376 | GATA2 | c.631G>T (p.Val211Phe) c.913G>T (p.Val305Phe) | ClinVar |
| 3 | g.128485967C= | CA1400719309 | GATA2 | c.631G= (p.Val211=) c.913G= (p.Val305=) | |
| 3 | g.128485967C>G | CA16611364 | GATA2 | c.631G>C (p.Val211Leu) c.913G>C (p.Val305Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485967C>T | CA354406377 | GATA2 | c.631G>A (p.Val211Ile) c.913G>A (p.Val305Ile) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128485969_128485971dup | CA658796374 | GATA2 | c.629_631dup (p.Gly210_Val211insGly) c.911_913dup (p.Gly304_Val305insGly) | ClinVar dbSNP |
| 3 | g.128485968G>A | CA435764090 | GATA2 | c.630C>T (p.Gly210=) c.912C>T (p.Gly304=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128485968G>C | CA435764091 | GATA2 | c.630C>G (p.Gly210=) c.912C>G (p.Gly304=) | |
| 3 | g.128485968G= | CA1400719310 | GATA2 | c.630C= (p.Gly210=) c.912C= (p.Gly304=) | |
| 3 | g.128485968G>T | CA435764092 | GATA2 | c.630C>A (p.Gly210=) c.912C>A (p.Gly304=) | COSMIC |
| 3 | g.128485968_128485971dup | CA1139532790 | GATA2 | c.627_630dup (p.Val211ArgfsTer?) c.909_912dup (p.Val305ArgfsTer?) | ClinVar dbSNP |
| 3 | g.128485969C>A | CA354406378 | GATA2 | c.629G>T (p.Gly210Val) c.911G>T (p.Gly304Val) | |
| 3 | g.128485969C>G | CA354406379 | GATA2 | c.629G>C (p.Gly210Ala) c.911G>C (p.Gly304Ala) | |
| 3 | g.128485969C>T | CA354406380 | GATA2 | c.629G>A (p.Gly210Asp) c.911G>A (p.Gly304Asp) | |
| 3 | g.128485971_128485985dup | CA2740090992 | GATA2 | c.615_629dup (p.Gly210_Val211insGluAspLysAspGly) c.897_911dup (p.Gly304_Val305insGluAspLysAspGly) | ClinVar |
| 3 | g.128485969_128486044delinsCCGTCCTTGTCCTCTCCTCGGGCTGCACTACCCCCCGCGGAAGATGAGGCTGGAGACGCAGCCCCCGTGGTGCTAG | CA1400719311 | GATA2 | c.554_629delinsCTAGCACCACGGGGGCTGCGTCTCCAGCCTCATCTTCCGCGGGGGGTAGTGCAGCCCGAGGAGAGGACAAGGACGG (p.Pro185=) c.836_911delinsCTAGCACCACGGGGGCTGCGTCTCCAGCCTCATCTTCCGCGGGGGGTAGTGCAGCCCGAGGAGAGGACAAGGACGG (p.Pro279=) | |
| 3 | g.128485970C>A | CA354406382 | GATA2 | c.628G>T (p.Gly210Cys) c.910G>T (p.Gly304Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485970C= | CA1400719312 | GATA2 | c.628G= (p.Gly210=) c.910G= (p.Gly304=) | |
| 3 | g.128485970C>G | CA354406381 | GATA2 | c.628G>C (p.Gly210Arg) c.910G>C (p.Gly304Arg) | |
| 3 | g.128485970C>T | CA2599986 | GATA2 | c.628G>A (p.Gly210Ser) c.910G>A (p.Gly304Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485970_128486044delinsAGCCCCCGTGGTGCTA | CA915941568 | GATA2 | c.554_628delinsTAGCACCACGGGGGCT (p.Pro185LeufsTer?) c.836_910delinsTAGCACCACGGGGGCT (p.Pro279LeufsTer?) | ClinVar dbSNP |
| 3 | g.128485971G>A | CA2599987 | GATA2 | c.627C>T (p.Asp209=) c.909C>T (p.Asp303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485971G>C | CA354406383 | GATA2 | c.627C>G (p.Asp209Glu) c.909C>G (p.Asp303Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485971G= | CA1400719313 | GATA2 | c.627C= (p.Asp209=) c.909C= (p.Asp303=) | |
| 3 | g.128485971G>T | CA354406384 | GATA2 | c.627C>A (p.Asp209Glu) c.909C>A (p.Asp303Glu) | |
| 3 | g.128485972T>A | CA354406385 | GATA2 | c.626A>T (p.Asp209Val) c.908A>T (p.Asp303Val) | |
| 3 | g.128485972T>C | CA354406386 | GATA2 | c.626A>G (p.Asp209Gly) c.908A>G (p.Asp303Gly) | |
| 3 | g.128485972T>G | CA354406387 | GATA2 | c.626A>C (p.Asp209Ala) c.908A>C (p.Asp303Ala) | |
| 3 | g.128485973C>A | CA354406388 | GATA2 | c.625G>T (p.Asp209Tyr) c.907G>T (p.Asp303Tyr) | |
| 3 | g.128485973C= | CA1400719314 | GATA2 | c.625G= (p.Asp209=) c.907G= (p.Asp303=) | |
| 3 | g.128485973C>G | CA354406389 | GATA2 | c.625G>C (p.Asp209His) c.907G>C (p.Asp303His) | |
| 3 | g.128485973C>T | CA83371863 | GATA2 | c.625G>A (p.Asp209Asn) c.907G>A (p.Asp303Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485974C>A | CA354406390 | GATA2 | c.624G>T (p.Lys208Asn) c.906G>T (p.Lys302Asn) | |
| 3 | g.128485974C>G | CA354406391 | GATA2 | c.624G>C (p.Lys208Asn) c.906G>C (p.Lys302Asn) | |
| 3 | g.128485974C>T | CA435764094 | GATA2 | c.624G>A (p.Lys208=) c.906G>A (p.Lys302=) | dbSNP |
| 3 | g.128485975T>A | CA354406393 | GATA2 | c.623A>T (p.Lys208Met) c.905A>T (p.Lys302Met) | |
| 3 | g.128485975T>C | CA354406394 | GATA2 | c.623A>G (p.Lys208Arg) c.905A>G (p.Lys302Arg) | |
| 3 | g.128485975T>G | CA354406392 | GATA2 | c.623A>C (p.Lys208Thr) c.905A>C (p.Lys302Thr) | gnomAD v4 |
| 3 | g.128485976T>A | CA354406395 | GATA2 | c.622A>T (p.Lys208Ter) c.904A>T (p.Lys302Ter) | |
| 3 | g.128485976T>C | CA354406396 | GATA2 | c.622A>G (p.Lys208Glu) c.904A>G (p.Lys302Glu) | |
| 3 | g.128485976T>G | CA354406397 | GATA2 | c.622A>C (p.Lys208Gln) c.904A>C (p.Lys302Gln) | |
| 3 | g.128485977G>A | CA435764098 | GATA2 | c.621C>T (p.Asp207=) c.903C>T (p.Asp301=) | |
| 3 | g.128485977G>C | CA354406398 | GATA2 | c.621C>G (p.Asp207Glu) c.903C>G (p.Asp301Glu) | gnomAD v4 |
| 3 | g.128485977G>T | CA354406399 | GATA2 | c.621C>A (p.Asp207Glu) c.903C>A (p.Asp301Glu) | |
| 3 | g.128485978T>A | CA354406400 | GATA2 | c.620A>T (p.Asp207Val) c.902A>T (p.Asp301Val) | |
| 3 | g.128485978T>C | CA354406401 | GATA2 | c.620A>G (p.Asp207Gly) c.902A>G (p.Asp301Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485978T>G | CA354406402 | GATA2 | c.620A>C (p.Asp207Ala) c.902A>C (p.Asp301Ala) | |
| 3 | g.128485979C>A | CA354406403 | GATA2 | c.619G>T (p.Asp207Tyr) c.901G>T (p.Asp301Tyr) | |
| 3 | g.128485979C= | CA1400719315 | GATA2 | c.619G= (p.Asp207=) c.901G= (p.Asp301=) | |
| 3 | g.128485979C>G | CA354406404 | GATA2 | c.619G>C (p.Asp207His) c.901G>C (p.Asp301His) | |
| 3 | g.128485979C>T | CA354406405 | GATA2 | c.619G>A (p.Asp207Asn) c.901G>A (p.Asp301Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485980C>A | CA354406406 | GATA2 | c.618G>T (p.Glu206Asp) c.900G>T (p.Glu300Asp) | |
| 3 | g.128485980C>G | CA354406407 | GATA2 | c.618G>C (p.Glu206Asp) c.900G>C (p.Glu300Asp) | |
| 3 | g.128485980C>T | CA435764100 | GATA2 | c.618G>A (p.Glu206=) c.900G>A (p.Glu300=) | gnomAD v4 |
| 3 | g.128485981T>A | CA354406410 | GATA2 | c.617A>T (p.Glu206Val) c.899A>T (p.Glu300Val) | |
| 3 | g.128485981T>C | CA354406409 | GATA2 | c.617A>G (p.Glu206Gly) c.899A>G (p.Glu300Gly) | |
| 3 | g.128485981T>G | CA354406408 | GATA2 | c.617A>C (p.Glu206Ala) c.899A>C (p.Glu300Ala) | |
| 3 | g.128485982C>A | CA354406411 | GATA2 | c.616G>T (p.Glu206Ter) c.898G>T (p.Glu300Ter) | |
| 3 | g.128485982C= | CA1400719316 | GATA2 | c.616G= (p.Glu206=) c.898G= (p.Glu300=) | |
| 3 | g.128485982C>G | CA16611249 | GATA2 | c.616G>C (p.Glu206Gln) c.898G>C (p.Glu300Gln) | ClinVar dbSNP |
| 3 | g.128485982C>T | CA354406412 | GATA2 | c.616G>A (p.Glu206Lys) c.898G>A (p.Glu300Lys) | |
| 3 | g.128485983T>A | CA435764101 | GATA2 | c.615A>T (p.Gly205=) c.897A>T (p.Gly299=) | |
| 3 | g.128485983T>C | CA435764102 | GATA2 | c.615A>G (p.Gly205=) c.897A>G (p.Gly299=) | |
| 3 | g.128485983T>G | CA435764103 | GATA2 | c.615A>C (p.Gly205=) c.897A>C (p.Gly299=) | |
| 3 | g.128485984C>A | CA354406413 | GATA2 | c.614G>T (p.Gly205Val) c.896G>T (p.Gly299Val) | |
| 3 | g.128485984C= | CA1400719317 | GATA2 | c.614G= (p.Gly205=) c.896G= (p.Gly299=) | |
| 3 | g.128485984C>G | CA354406414 | GATA2 | c.614G>C (p.Gly205Ala) c.896G>C (p.Gly299Ala) | |
| 3 | g.128485984C>T | CA354406415 | GATA2 | c.614G>A (p.Gly205Glu) c.896G>A (p.Gly299Glu) | ClinVar dbSNP |
| 3 | g.128485985C>A | CA354406416 | GATA2 | c.613G>T (p.Gly205Ter) c.895G>T (p.Gly299Ter) | |
| 3 | g.128485985C= | CA1400719318 | GATA2 | c.613G= (p.Gly205=) c.895G= (p.Gly299=) | |
| 3 | g.128485985C>G | CA354406417 | GATA2 | c.613G>C (p.Gly205Arg) c.895G>C (p.Gly299Arg) | |
| 3 | g.128485985C>T | CA354406418 | GATA2 | c.613G>A (p.Gly205Arg) c.895G>A (p.Gly299Arg) | dbSNP |
| 3 | g.128485986T>A | CA435764105 | GATA2 | c.612A>T (p.Arg204=) c.894A>T (p.Arg298=) | |
| 3 | g.128485986T>C | CA2599988 | GATA2 | c.612A>G (p.Arg204=) c.894A>G (p.Arg298=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128485986T>G | CA435764106 | GATA2 | c.612A>C (p.Arg204=) c.894A>C (p.Arg298=) | |
| 3 | g.128485986T= | CA1400719319 | GATA2 | c.612A= (p.Arg204=) c.894A= (p.Arg298=) | |
| 3 | g.128485987C>A | CA354406419 | GATA2 | c.611G>T (p.Arg204Leu) c.893G>T (p.Arg298Leu) | |
| 3 | g.128485987C= | CA1400719320 | GATA2 | c.611G= (p.Arg204=) c.893G= (p.Arg298=) | |
| 3 | g.128485987C>G | CA354406420 | GATA2 | c.611G>C (p.Arg204Pro) c.893G>C (p.Arg298Pro) | |
| 3 | g.128485987C>T | CA354406421 | GATA2 | c.611G>A (p.Arg204Gln) c.893G>A (p.Arg298Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485988G>A | CA354406422 | GATA2 | c.610C>T (p.Arg204Ter) c.892C>T (p.Arg298Ter) | ClinVar dbSNP |
| 3 | g.128485988G>C | CA354406423 | GATA2 | c.610C>G (p.Arg204Gly) c.892C>G (p.Arg298Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128485988G= | CA1400719321 | GATA2 | c.610C= (p.Arg204=) c.892C= (p.Arg298=) | |
| 3 | g.128485988G>T | CA435764107 | GATA2 | c.610C>A (p.Arg204=) c.892C>A (p.Arg298=) | |
| 3 | g.128485990dup | CA2586965910 | GATA2 | c.610dup (p.Arg204ProfsTer?) c.892dup (p.Arg298ProfsTer?) | |
| 3 | g.128485989G>A | CA435764109 | GATA2 | c.609C>T (p.Ala203=) c.891C>T (p.Ala297=) | gnomAD v4 |
| 3 | g.128485989G>C | CA435764110 | GATA2 | c.609C>G (p.Ala203=) c.891C>G (p.Ala297=) | |
| 3 | g.128485989G>T | CA435764111 | GATA2 | c.609C>A (p.Ala203=) c.891C>A (p.Ala297=) | ClinVar dbSNP |
| 3 | g.128485990G>A | CA354406424 | GATA2 | c.608C>T (p.Ala203Val) c.890C>T (p.Ala297Val) | |
| 3 | g.128485990G>C | CA354406426 | GATA2 | c.608C>G (p.Ala203Gly) c.890C>G (p.Ala297Gly) | |
| 3 | g.128485990G>T | CA354406425 | GATA2 | c.608C>A (p.Ala203Asp) c.890C>A (p.Ala297Asp) | |
| 3 | g.128485991C>A | CA354406427 | GATA2 | c.607G>T (p.Ala203Ser) c.889G>T (p.Ala297Ser) | ClinVar dbSNP |
| 3 | g.128485991C= | CA1400719322 | GATA2 | c.607G= (p.Ala203=) c.889G= (p.Ala297=) | |
| 3 | g.128485991C>G | CA354406428 | GATA2 | c.607G>C (p.Ala203Pro) c.889G>C (p.Ala297Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128485991C>T | CA354406429 | GATA2 | c.607G>A (p.Ala203Thr) c.889G>A (p.Ala297Thr) | |
| 3 | g.128485992T>A | CA435764112 | GATA2 | c.606A>T (p.Ala202=) c.888A>T (p.Ala296=) | dbSNP |
| 3 | g.128485992T>C | CA2599989 | GATA2 | c.606A>G (p.Ala202=) c.888A>G (p.Ala296=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485992T>G | CA435764113 | GATA2 | c.606A>C (p.Ala202=) c.888A>C (p.Ala296=) | |
| 3 | g.128485992T= | CA1400719323 | GATA2 | c.606A= (p.Ala202=) c.888A= (p.Ala296=) | |
| 3 | g.128485993G>A | CA354406430 | GATA2 | c.605C>T (p.Ala202Val) c.887C>T (p.Ala296Val) | |
| 3 | g.128485993G>C | CA354406431 | GATA2 | c.605C>G (p.Ala202Gly) c.887C>G (p.Ala296Gly) | |
| 3 | g.128485993G>T | CA354406432 | GATA2 | c.605C>A (p.Ala202Glu) c.887C>A (p.Ala296Glu) | |
| 3 | g.128485994C>A | CA354406433 | GATA2 | c.604G>T (p.Ala202Ser) c.886G>T (p.Ala296Ser) | |
| 3 | g.128485994C>G | CA354406434 | GATA2 | c.604G>C (p.Ala202Pro) c.886G>C (p.Ala296Pro) | |
| 3 | g.128485994C>T | CA354406435 | GATA2 | c.604G>A (p.Ala202Thr) c.886G>A (p.Ala296Thr) | |
| 3 | g.128485995A>C | CA354406436 | GATA2 | c.603T>G (p.Ser201Arg) c.885T>G (p.Ser295Arg) | |
| 3 | g.128485995A>G | CA435764114 | GATA2 | c.603T>C (p.Ser201=) c.885T>C (p.Ser295=) | ClinVar |
| 3 | g.128485995A>T | CA354406437 | GATA2 | c.603T>A (p.Ser201Arg) c.885T>A (p.Ser295Arg) | |
| 3 | g.128485996C>A | CA354406438 | GATA2 | c.602G>T (p.Ser201Ile) c.884G>T (p.Ser295Ile) | |
| 3 | g.128485996C>G | CA354406440 | GATA2 | c.602G>C (p.Ser201Thr) c.884G>C (p.Ser295Thr) | |
| 3 | g.128485996C>T | CA354406439 | GATA2 | c.602G>A (p.Ser201Asn) c.884G>A (p.Ser295Asn) | |
| 3 | g.128485997T>A | CA354406441 | GATA2 | c.601A>T (p.Ser201Cys) c.883A>T (p.Ser295Cys) | |
| 3 | g.128485997T>C | CA354406442 | GATA2 | c.601A>G (p.Ser201Gly) c.883A>G (p.Ser295Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485997T>G | CA354406443 | GATA2 | c.601A>C (p.Ser201Arg) c.883A>C (p.Ser295Arg) | |
| 3 | g.128485997T= | CA1400719324 | GATA2 | c.601A= (p.Ser201=) c.883A= (p.Ser295=) | |
| 3 | g.128485998A= | CA1400719326 | GATA2 | c.600T= (p.Gly200=) c.882T= (p.Gly294=) | |
| 3 | g.128485998A>C | CA435764117 | GATA2 | c.600T>G (p.Gly200=) c.882T>G (p.Gly294=) | ClinVar dbSNP |
| 3 | g.128485998A>G | CA435764118 | GATA2 | c.600T>C (p.Gly200=) c.882T>C (p.Gly294=) | ClinVar COSMIC |
| 3 | g.128485998A>T | CA435764119 | GATA2 | c.600T>A (p.Gly200=) c.882T>A (p.Gly294=) | |
| 3 | g.128485998_128485999delinsAC | CA1400719325 | GATA2 | c.599_600delinsGT (p.Gly200=) c.881_882delinsGT (p.Gly294=) | |
| 3 | g.128485999C>A | CA354406444 | GATA2 | c.599G>T (p.Gly200Val) c.881G>T (p.Gly294Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128485999C= | CA1400719327 | GATA2 | c.599G= (p.Gly200=) c.881G= (p.Gly294=) | |
| 3 | g.128485999C>G | CA2599990 | GATA2 | c.599G>C (p.Gly200Ala) c.881G>C (p.Gly294Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128485999C>T | CA2599991 | GATA2 | c.599G>A (p.Gly200Asp) c.881G>A (p.Gly294Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128486004dup | CA358452 | GATA2 | c.599dup (p.Ser201Ter) c.881dup (p.Ser295Ter) | ClinVar dbSNP ExAC |
| 3 | g.128486004del | CA435764121 | GATA2 | c.599del (p.Gly200ValfsTer18) c.881del (p.Gly294ValfsTer18) | ClinVar dbSNP gnomAD v2 COSMIC |
| 3 | g.128486000C>A | CA354406445 | GATA2 | c.598G>T (p.Gly200Cys) c.880G>T (p.Gly294Cys) | |
| 3 | g.128486000C= | CA1400719328 | GATA2 | c.598G= (p.Gly200=) c.880G= (p.Gly294=) | |
| 3 | g.128486000C>G | CA354406446 | GATA2 | c.598G>C (p.Gly200Arg) c.880G>C (p.Gly294Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486000C>T | CA354406447 | GATA2 | c.598G>A (p.Gly200Ser) c.880G>A (p.Gly294Ser) | |
| 3 | g.128486001C>A | CA435764122 | GATA2 | c.597G>T (p.Gly199=) c.879G>T (p.Gly293=) | ClinVar gnomAD v4 |
| 3 | g.128486001C= | CA1400719329 | GATA2 | c.597G= (p.Gly199=) c.879G= (p.Gly293=) | |
| 3 | g.128486001C>G | CA435764123 | GATA2 | c.597G>C (p.Gly199=) c.879G>C (p.Gly293=) | |
| 3 | g.128486001C>T | CA435764124 | GATA2 | c.597G>A (p.Gly199=) c.879G>A (p.Gly293=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486002C>A | CA2599992 | GATA2 | c.596G>T (p.Gly199Val) c.878G>T (p.Gly293Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486002C= | CA1400719330 | GATA2 | c.596G= (p.Gly199=) c.878G= (p.Gly293=) | |
| 3 | g.128486002C>G | CA354406449 | GATA2 | c.596G>C (p.Gly199Ala) c.878G>C (p.Gly293Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486002C>T | CA354406448 | GATA2 | c.596G>A (p.Gly199Glu) c.878G>A (p.Gly293Glu) | dbSNP gnomAD v4 |