UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128481845_128484000dup | CA2695239090 | GATA2 | c.877_1117dup c.1159_1399dup c.877_1075dup | |
| 3 | g.128483888_128483912dup | CA2499216458 | GATA2 | c.970_994dup (p.Leu332GlnfsTer?) c.1252_1276dup (p.Leu426GlnfsTer?) | ClinVar dbSNP |
| 3 | g.128483900_128483924dup | CA915941561 | GATA2 | c.953_977dup (p.Gly327LeufsTer?) c.1235_1259dup (p.Gly421LeufsTer?) | ClinVar dbSNP |
| 3 | g.128483901T>A | CA354404406 | GATA2 | c.976A>T (p.Asn326Tyr) c.1258A>T (p.Asn420Tyr) | |
| 3 | g.128483901T>C | CA354404408 | GATA2 | c.976A>G (p.Asn326Asp) c.1258A>G (p.Asn420Asp) | |
| 3 | g.128483901T>G | CA354404410 | GATA2 | c.976A>C (p.Asn326His) c.1258A>C (p.Asn420His) | |
| 3 | g.128483902C>A | CA354404412 | GATA2 | c.975G>T (p.Met325Ile) c.1257G>T (p.Met419Ile) | |
| 3 | g.128483902C>G | CA354404413 | GATA2 | c.975G>C (p.Met325Ile) c.1257G>C (p.Met419Ile) | |
| 3 | g.128483902C>T | CA354404415 | GATA2 | c.975G>A (p.Met325Ile) c.1257G>A (p.Met419Ile) | ClinVar dbSNP |
| 3 | g.128483903A>C | CA354404417 | GATA2 | c.974T>G (p.Met325Arg) c.1256T>G (p.Met419Arg) | |
| 3 | g.128483903A>G | CA354404419 | GATA2 | c.974T>C (p.Met325Thr) c.1256T>C (p.Met419Thr) | |
| 3 | g.128483903A>T | CA354404420 | GATA2 | c.974T>A (p.Met325Lys) c.1256T>A (p.Met419Lys) | |
| 3 | g.128483904T>A | CA354404426 | GATA2 | c.973A>T (p.Met325Leu) c.1255A>T (p.Met419Leu) | |
| 3 | g.128483904T>C | CA354404422 | GATA2 | c.973A>G (p.Met325Val) c.1255A>G (p.Met419Val) | |
| 3 | g.128483904T>G | CA354404424 | GATA2 | c.973A>C (p.Met325Leu) c.1255A>C (p.Met419Leu) | |
| 3 | g.128483905C>A | CA354404428 | GATA2 | c.972G>T (p.Lys324Asn) c.1254G>T (p.Lys418Asn) | |
| 3 | g.128483905C= | CA1400717413 | GATA2 | c.972G= (p.Lys324=) c.1254G= (p.Lys418=) | |
| 3 | g.128483905C>G | CA354404430 | GATA2 | c.972G>C (p.Lys324Asn) c.1254G>C (p.Lys418Asn) | dbSNP |
| 3 | g.128483905C>T | CA435509983 | GATA2 | c.972G>A (p.Lys324=) c.1254G>A (p.Lys418=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483905_128483906delinsCT | CA1400717415 | GATA2 | c.971_972delinsAG (p.Lys324=) c.1253_1254delinsAG (p.Lys418=) | |
| 3 | g.128483906T>A | CA354404432 | GATA2 | c.971A>T (p.Lys324Met) c.1253A>T (p.Lys418Met) | |
| 3 | g.128483906T>C | CA354404434 | GATA2 | c.971A>G (p.Lys324Arg) c.1253A>G (p.Lys418Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128483906T>G | CA354404436 | GATA2 | c.971A>C (p.Lys324Thr) c.1253A>C (p.Lys418Thr) | |
| 3 | g.128483906T= | CA1400717421 | GATA2 | c.971A= (p.Lys324=) c.1253A= (p.Lys418=) | |
| 3 | g.128483907del | CA915941562 | GATA2 | c.971del (p.Lys324ArgfsTer2) c.1253del (p.Lys418ArgfsTer2) | ClinVar dbSNP |
| 3 | g.128483907T>A | CA354404438 | GATA2 | c.970A>T (p.Lys324Ter) c.1252A>T (p.Lys418Ter) | |
| 3 | g.128483907T>C | CA354404440 | GATA2 | c.970A>G (p.Lys324Glu) c.1252A>G (p.Lys418Glu) | COSMIC |
| 3 | g.128483907T>G | CA354404442 | GATA2 | c.970A>C (p.Lys324Gln) c.1252A>C (p.Lys418Gln) | |
| 3 | g.128483908G>A | CA435509984 | GATA2 | c.969C>T (p.His323=) c.1251C>T (p.His417=) | |
| 3 | g.128483908G>C | CA354404445 | GATA2 | c.969C>G (p.His323Gln) c.1251C>G (p.His417Gln) | |
| 3 | g.128483908G>T | CA354404446 | GATA2 | c.969C>A (p.His323Gln) c.1251C>A (p.His417Gln) | |
| 3 | g.128483910_128483912del | CA1139655050 | GATA2 | c.967_969del (p.His323del) c.1249_1251del (p.His417del) | ClinVar |
| 3 | g.128483909T>A | CA354404449 | GATA2 | c.968A>T (p.His323Leu) c.1250A>T (p.His417Leu) | |
| 3 | g.128483909T>C | CA354404450 | GATA2 | c.968A>G (p.His323Arg) c.1250A>G (p.His417Arg) | ClinVar dbSNP gnomAD v2 |
| 3 | g.128483909T>G | CA354404451 | GATA2 | c.968A>C (p.His323Pro) c.1250A>C (p.His417Pro) | |
| 3 | g.128483909T= | CA1400717429 | GATA2 | c.968A= (p.His323=) c.1250A= (p.His417=) | |
| 3 | g.128483909dup | CA2499216459 | GATA2 | c.968dup (p.His323GlnfsTer?) c.1250dup (p.His417GlnfsTer?) | ClinVar dbSNP |
| 3 | g.128483910G>A | CA354404453 | GATA2 | c.967C>T (p.His323Tyr) c.1249C>T (p.His417Tyr) | ClinVar |
| 3 | g.128483910G>C | CA354404454 | GATA2 | c.967C>G (p.His323Asp) c.1249C>G (p.His417Asp) | |
| 3 | g.128483910G>T | CA354404452 | GATA2 | c.967C>A (p.His323Asn) c.1249C>A (p.His417Asn) | |
| 3 | g.128483911G>A | CA2599911 | GATA2 | c.966C>T (p.Tyr322=) c.1248C>T (p.Tyr416=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483911G>C | CA354404455 | GATA2 | c.966C>G (p.Tyr322Ter) c.1248C>G (p.Tyr416Ter) | |
| 3 | g.128483911G= | CA1400717433 | GATA2 | c.966C= (p.Tyr322=) c.1248C= (p.Tyr416=) | |
| 3 | g.128483911G>T | CA354404456 | GATA2 | c.966C>A (p.Tyr322Ter) c.1248C>A (p.Tyr416Ter) | |
| 3 | g.128483912T>A | CA354404457 | GATA2 | c.965A>T (p.Tyr322Phe) c.1247A>T (p.Tyr416Phe) | |
| 3 | g.128483912T>C | CA354404458 | GATA2 | c.965A>G (p.Tyr322Cys) c.1247A>G (p.Tyr416Cys) | ClinVar |
| 3 | g.128483912T>G | CA354404459 | GATA2 | c.965A>C (p.Tyr322Ser) c.1247A>C (p.Tyr416Ser) | |
| 3 | g.128483913A>C | CA354404460 | GATA2 | c.964T>G (p.Tyr322Asp) c.1246T>G (p.Tyr416Asp) | |
| 3 | g.128483913A>G | CA354404461 | GATA2 | c.964T>C (p.Tyr322His) c.1246T>C (p.Tyr416His) | |
| 3 | g.128483913A>T | CA354404462 | GATA2 | c.964T>A (p.Tyr322Asn) c.1246T>A (p.Tyr416Asn) | |
| 3 | g.128483913_128483916dup | CA891841822 | GATA2 | c.961_964dup (p.Tyr322SerfsTer?) c.1243_1246dup (p.Tyr416SerfsTer?) | |
| 3 | g.128483914G>A | CA435509985 | GATA2 | c.963C>T (p.Leu321=) c.1245C>T (p.Leu415=) | ClinVar dbSNP |
| 3 | g.128483914G>C | CA435509986 | GATA2 | c.963C>G (p.Leu321=) c.1245C>G (p.Leu415=) | ClinVar dbSNP |
| 3 | g.128483914G>T | CA435509987 | GATA2 | c.963C>A (p.Leu321=) c.1245C>A (p.Leu415=) | |
| 3 | g.128483915A>C | CA354404463 | GATA2 | c.962T>G (p.Leu321Arg) c.1244T>G (p.Leu415Arg) | dbSNP COSMIC |
| 3 | g.128483915A>G | CA354404477 | GATA2 | c.962T>C (p.Leu321Pro) c.1244T>C (p.Leu415Pro) | dbSNP COSMIC |
| 3 | g.128483915A>T | CA354404475 | GATA2 | c.962T>A (p.Leu321His) c.1244T>A (p.Leu415His) | dbSNP COSMIC |
| 3 | g.128483915_128483916insCTA | CA2573052070 | GATA2 | c.962_963insAGT (p.Leu321_Tyr322insVal) c.1244_1245insAGT (p.Leu415_Tyr416insVal) | ClinVar dbSNP |
| 3 | g.128483919_128483925del | CA2499216460 | GATA2 | c.956_962del (p.Cys319SerfsTer5) c.1238_1244del (p.Cys413SerfsTer5) | ClinVar dbSNP |
| 3 | g.128483916G>A | CA354404480 | GATA2 | c.961C>T (p.Leu321Phe) c.1243C>T (p.Leu415Phe) | dbSNP gnomAD v4 COSMIC |
| 3 | g.128483916G>C | CA354404482 | GATA2 | c.961C>G (p.Leu321Val) c.1243C>G (p.Leu415Val) | dbSNP COSMIC |
| 3 | g.128483916G>T | CA354404483 | GATA2 | c.961C>A (p.Leu321Ile) c.1243C>A (p.Leu415Ile) | |
| 3 | g.128483917G>A | CA2599912 | GATA2 | c.960C>T (p.Gly320=) c.1242C>T (p.Gly414=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483917G>C | CA435509988 | GATA2 | c.960C>G (p.Gly320=) c.1242C>G (p.Gly414=) | |
| 3 | g.128483917G= | CA1400717440 | GATA2 | c.960C= (p.Gly320=) c.1242C= (p.Gly414=) | |
| 3 | g.128483917G>T | CA435509989 | GATA2 | c.960C>A (p.Gly320=) c.1242C>A (p.Gly414=) | |
| 3 | g.128483918C>A | CA354404487 | GATA2 | c.959G>T (p.Gly320Val) c.1241G>T (p.Gly414Val) | dbSNP COSMIC |
| 3 | g.128483918C>G | CA354404490 | GATA2 | c.959G>C (p.Gly320Ala) c.1241G>C (p.Gly414Ala) | dbSNP COSMIC |
| 3 | g.128483918C>T | CA354404488 | GATA2 | c.959G>A (p.Gly320Asp) c.1241G>A (p.Gly414Asp) | dbSNP COSMIC |
| 3 | g.128483919C>A | CA354404492 | GATA2 | c.958G>T (p.Gly320Cys) c.1240G>T (p.Gly414Cys) | dbSNP |
| 3 | g.128483919C= | CA1400717445 | GATA2 | c.958G= (p.Gly320=) c.1240G= (p.Gly414=) | |
| 3 | g.128483919C>G | CA354404493 | GATA2 | c.958G>C (p.Gly320Arg) c.1240G>C (p.Gly414Arg) | |
| 3 | g.128483919C>T | CA354404494 | GATA2 | c.958G>A (p.Gly320Ser) c.1240G>A (p.Gly414Ser) | |
| 3 | g.128483920A>C | CA354404495 | GATA2 | c.957T>G (p.Cys319Trp) c.1239T>G (p.Cys413Trp) | |
| 3 | g.128483920A>G | CA435509991 | GATA2 | c.957T>C (p.Cys319=) c.1239T>C (p.Cys413=) | gnomAD v4 |
| 3 | g.128483920A>T | CA354404496 | GATA2 | c.957T>A (p.Cys319Ter) c.1239T>A (p.Cys413Ter) | |
| 3 | g.128483921C>A | CA354404498 | GATA2 | c.956G>T (p.Cys319Phe) c.1238G>T (p.Cys413Phe) | |
| 3 | g.128483921C>G | CA354404500 | GATA2 | c.956G>C (p.Cys319Ser) c.1238G>C (p.Cys413Ser) | |
| 3 | g.128483921C>T | CA354404502 | GATA2 | c.956G>A (p.Cys319Tyr) c.1238G>A (p.Cys413Tyr) | |
| 3 | g.128483922A>C | CA354404505 | GATA2 | c.955T>G (p.Cys319Gly) c.1237T>G (p.Cys413Gly) | |
| 3 | g.128483922A>G | CA354404507 | GATA2 | c.955T>C (p.Cys319Arg) c.1237T>C (p.Cys413Arg) | |
| 3 | g.128483922A>T | CA354404508 | GATA2 | c.955T>A (p.Cys319Ser) c.1237T>A (p.Cys413Ser) | |
| 3 | g.128483922_128483924dup | CA645529131 | GATA2 | c.953_955dup (p.Ala318_Cys319insSer) c.1235_1237dup (p.Ala412_Cys413insSer) | COSMIC |
| 3 | g.128483923G>A | CA435509992 | GATA2 | c.954C>T (p.Ala318=) c.1236C>T (p.Ala412=) | |
| 3 | g.128483923G>C | CA435509993 | GATA2 | c.954C>G (p.Ala318=) c.1236C>G (p.Ala412=) | |
| 3 | g.128483923G>T | CA435509994 | GATA2 | c.954C>A (p.Ala318=) c.1236C>A (p.Ala412=) | |
| 3 | g.128483924G>A | CA354404511 | GATA2 | c.953C>T (p.Ala318Val) c.1235C>T (p.Ala412Val) | ClinVar dbSNP COSMIC |
| 3 | g.128483924G>C | CA354404513 | GATA2 | c.953C>G (p.Ala318Gly) c.1235C>G (p.Ala412Gly) | dbSNP COSMIC |
| 3 | g.128483924G>T | CA354404512 | GATA2 | c.953C>A (p.Ala318Asp) c.1235C>A (p.Ala412Asp) | dbSNP COSMIC |
| 3 | g.128483925C>A | CA354404516 | GATA2 | c.952G>T (p.Ala318Ser) c.1234G>T (p.Ala412Ser) | |
| 3 | g.128483925C>G | CA354404517 | GATA2 | c.952G>C (p.Ala318Pro) c.1234G>C (p.Ala412Pro) | |
| 3 | g.128483925C>T | CA354404520 | GATA2 | c.952G>A (p.Ala318Thr) c.1234G>A (p.Ala412Thr) | ClinVar dbSNP COSMIC |
| 3 | g.128483926A= | CA1400717448 | GATA2 | c.951T= (p.Asn317=) c.1233T= (p.Asn411=) | |
| 3 | g.128483926A>C | CA354404522 | GATA2 | c.951T>G (p.Asn317Lys) c.1233T>G (p.Asn411Lys) | |
| 3 | g.128483926A>G | CA2599913 | GATA2 | c.951T>C (p.Asn317=) c.1233T>C (p.Asn411=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483926A>T | CA354404527 | GATA2 | c.951T>A (p.Asn317Lys) c.1233T>A (p.Asn411Lys) | |
| 3 | g.128483927_128483937dup | CA2499216462 | GATA2 | c.941_951dup (p.Ala318ThrfsTer12) c.1223_1233dup (p.Ala412ThrfsTer12) | ClinVar dbSNP |
| 3 | g.128483927_128483937del | CA2499216461 | GATA2 | c.941_951del (p.Tyr314CysfsTer?) c.1223_1233del (p.Tyr408CysfsTer?) | ClinVar dbSNP |
| 3 | g.128483927T>A | CA354404530 | GATA2 | c.950A>T (p.Asn317Ile) c.1232A>T (p.Asn411Ile) | dbSNP COSMIC |
| 3 | g.128483927T>C | CA354404531 | GATA2 | c.950A>G (p.Asn317Ser) c.1232A>G (p.Asn411Ser) | ClinVar dbSNP COSMIC |
| 3 | g.128483927T>G | CA354404532 | GATA2 | c.950A>C (p.Asn317Thr) c.1232A>C (p.Asn411Thr) | |
| 3 | g.128483927T= | CA1400717454 | GATA2 | c.950A= (p.Asn317=) c.1232A= (p.Asn411=) | |
| 3 | g.128483928T>A | CA354404534 | GATA2 | c.949A>T (p.Asn317Tyr) c.1231A>T (p.Asn411Tyr) | |
| 3 | g.128483928T>C | CA354404536 | GATA2 | c.949A>G (p.Asn317Asp) c.1231A>G (p.Asn411Asp) | ClinVar |
| 3 | g.128483928T>G | CA354404538 | GATA2 | c.949A>C (p.Asn317His) c.1231A>C (p.Asn411His) | dbSNP COSMIC |
| 3 | g.128483928T= | CA1400717457 | GATA2 | c.949A= (p.Asn317=) c.1231A= (p.Asn411=) | |
| 3 | g.128483929G>A | CA435509995 | GATA2 | c.948C>T (p.Cys316=) c.1230C>T (p.Cys410=) | |
| 3 | g.128483929G>C | CA354404541 | GATA2 | c.948C>G (p.Cys316Trp) c.1230C>G (p.Cys410Trp) | |
| 3 | g.128483929G>T | CA354404540 | GATA2 | c.948C>A (p.Cys316Ter) c.1230C>A (p.Cys410Ter) | |
| 3 | g.128483930C>A | CA354404544 | GATA2 | c.947G>T (p.Cys316Phe) c.1229G>T (p.Cys410Phe) | |
| 3 | g.128483930C>G | CA354404546 | GATA2 | c.947G>C (p.Cys316Ser) c.1229G>C (p.Cys410Ser) | |
| 3 | g.128483930C>T | CA354404548 | GATA2 | c.947G>A (p.Cys316Tyr) c.1229G>A (p.Cys410Tyr) | |
| 3 | g.128483931A>C | CA354404550 | GATA2 | c.946T>G (p.Cys316Gly) c.1228T>G (p.Cys410Gly) | |
| 3 | g.128483931A>G | CA354404552 | GATA2 | c.946T>C (p.Cys316Arg) c.1228T>C (p.Cys410Arg) | |
| 3 | g.128483931A>T | CA354404554 | GATA2 | c.946T>A (p.Cys316Ser) c.1228T>A (p.Cys410Ser) | |
| 3 | g.128483931_128483934dup | CA2586965881 | GATA2 | c.943_946dup (p.Cys316SerfsTer?) c.1225_1228dup (p.Cys410SerfsTer?) | |
| 3 | g.128483932C>A | CA435509996 | GATA2 | c.945G>T (p.Leu315=) c.1227G>T (p.Leu409=) | gnomAD v4 |
| 3 | g.128483932C= | CA1400717463 | GATA2 | c.945G= (p.Leu315=) c.1227G= (p.Leu409=) | |
| 3 | g.128483932C>G | CA83370788 | GATA2 | c.945G>C (p.Leu315=) c.1227G>C (p.Leu409=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483932C>T | CA435509997 | GATA2 | c.945G>A (p.Leu315=) c.1227G>A (p.Leu409=) | gnomAD v4 |
| 3 | g.128483933A>C | CA354404556 | GATA2 | c.944T>G (p.Leu315Arg) c.1226T>G (p.Leu409Arg) | |
| 3 | g.128483933A>G | CA354404558 | GATA2 | c.944T>C (p.Leu315Pro) c.1226T>C (p.Leu409Pro) | ClinVar dbSNP |
| 3 | g.128483933A>T | CA354404560 | GATA2 | c.944T>A (p.Leu315Gln) c.1226T>A (p.Leu409Gln) | |
| 3 | g.128483934G>A | CA435509999 | GATA2 | c.943C>T (p.Leu315=) c.1225C>T (p.Leu409=) | ClinVar dbSNP |
| 3 | g.128483934G>C | CA354404562 | GATA2 | c.943C>G (p.Leu315Val) c.1225C>G (p.Leu409Val) | |
| 3 | g.128483934G= | CA1400717467 | GATA2 | c.943C= (p.Leu315=) c.1225C= (p.Leu409=) | |
| 3 | g.128483934G>T | CA354404563 | GATA2 | c.943C>A (p.Leu315Met) c.1225C>A (p.Leu409Met) | |
| 3 | g.128483935G>A | CA435510000 | GATA2 | c.942C>T (p.Tyr314=) c.1224C>T (p.Tyr408=) | ClinVar dbSNP |
| 3 | g.128483935G>C | CA354404567 | GATA2 | c.942C>G (p.Tyr314Ter) c.1224C>G (p.Tyr408Ter) | |
| 3 | g.128483935G>T | CA354404569 | GATA2 | c.942C>A (p.Tyr314Ter) c.1224C>A (p.Tyr408Ter) | |
| 3 | g.128483936T>A | CA354404574 | GATA2 | c.941A>T (p.Tyr314Phe) c.1223A>T (p.Tyr408Phe) | |
| 3 | g.128483936T>C | CA354404575 | GATA2 | c.941A>G (p.Tyr314Cys) c.1223A>G (p.Tyr408Cys) | |
| 3 | g.128483936T>G | CA354404572 | GATA2 | c.941A>C (p.Tyr314Ser) c.1223A>C (p.Tyr408Ser) | |
| 3 | g.128483937A>C | CA354404580 | GATA2 | c.940T>G (p.Tyr314Asp) c.1222T>G (p.Tyr408Asp) | |
| 3 | g.128483937A>G | CA354404576 | GATA2 | c.940T>C (p.Tyr314His) c.1222T>C (p.Tyr408His) | ClinVar |
| 3 | g.128483937A>T | CA354404578 | GATA2 | c.940T>A (p.Tyr314Asn) c.1222T>A (p.Tyr408Asn) | |
| 3 | g.128483938G>A | CA435510001 | GATA2 | c.939C>T (p.His313=) c.1221C>T (p.His407=) | |
| 3 | g.128483938G>C | CA354404582 | GATA2 | c.939C>G (p.His313Gln) c.1221C>G (p.His407Gln) | |
| 3 | g.128483938G>T | CA354404583 | GATA2 | c.939C>A (p.His313Gln) c.1221C>A (p.His407Gln) | |
| 3 | g.128483939T>A | CA354404585 | GATA2 | c.938A>T (p.His313Leu) c.1220A>T (p.His407Leu) | |
| 3 | g.128483939T>C | CA354404587 | GATA2 | c.938A>G (p.His313Arg) c.1220A>G (p.His407Arg) | |
| 3 | g.128483939T>G | CA354404589 | GATA2 | c.938A>C (p.His313Pro) c.1220A>C (p.His407Pro) | |
| 3 | g.128483940G>A | CA354404591 | GATA2 | c.937C>T (p.His313Tyr) c.1219C>T (p.His407Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128483940G>C | CA354404595 | GATA2 | c.937C>G (p.His313Asp) c.1219C>G (p.His407Asp) | |
| 3 | g.128483940G= | CA1400717470 | GATA2 | c.937C= (p.His313=) c.1219C= (p.His407=) | |
| 3 | g.128483940G>T | CA354404597 | GATA2 | c.937C>A (p.His313Asn) c.1219C>A (p.His407Asn) | |
| 3 | g.128483940_128483945delinsC | CA2499216463 | GATA2 | c.932_937delinsG (p.Thr311ArgfsTer?) c.1214_1219delinsG (p.Thr405ArgfsTer?) | ClinVar dbSNP |
| 3 | g.128483941G>A | CA435510002 | GATA2 | c.936C>T (p.Gly312=) c.1218C>T (p.Gly406=) | dbSNP |
| 3 | g.128483941G>C | CA435510003 | GATA2 | c.936C>G (p.Gly312=) c.1218C>G (p.Gly406=) | |
| 3 | g.128483941G= | CA1400717474 | GATA2 | c.936C= (p.Gly312=) c.1218C= (p.Gly406=) | |
| 3 | g.128483941G>T | CA435510004 | GATA2 | c.936C>A (p.Gly312=) c.1218C>A (p.Gly406=) | |
| 3 | g.128483942C>A | CA354404600 | GATA2 | c.935G>T (p.Gly312Val) c.1217G>T (p.Gly406Val) | |
| 3 | g.128483942C= | CA1400717476 | GATA2 | c.935G= (p.Gly312=) c.1217G= (p.Gly406=) | |
| 3 | g.128483942C>G | CA354404601 | GATA2 | c.935G>C (p.Gly312Ala) c.1217G>C (p.Gly406Ala) | |
| 3 | g.128483942C>T | CA83370792 | GATA2 | c.935G>A (p.Gly312Asp) c.1217G>A (p.Gly406Asp) | dbSNP gnomAD v4 |
| 3 | g.128483943C>A | CA354404606 | GATA2 | c.934G>T (p.Gly312Cys) c.1216G>T (p.Gly406Cys) | |
| 3 | g.128483943C>G | CA354404614 | GATA2 | c.934G>C (p.Gly312Arg) c.1216G>C (p.Gly406Arg) | |
| 3 | g.128483943C>T | CA354404607 | GATA2 | c.934G>A (p.Gly312Ser) c.1216G>A (p.Gly406Ser) | |
| 3 | g.128483944G>A | CA2599914 | GATA2 | c.933C>T (p.Thr311=) c.1215C>T (p.Thr405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483944G>C | CA435510005 | GATA2 | c.933C>G (p.Thr311=) c.1215C>G (p.Thr405=) | |
| 3 | g.128483944G= | CA1400717483 | GATA2 | c.933C= (p.Thr311=) c.1215C= (p.Thr405=) | |
| 3 | g.128483944G>T | CA2599915 | GATA2 | c.933C>A (p.Thr311=) c.1215C>A (p.Thr405=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483945G>A | CA354404618 | GATA2 | c.932C>T (p.Thr311Ile) c.1214C>T (p.Thr405Ile) | |
| 3 | g.128483945G>C | CA354404621 | GATA2 | c.932C>G (p.Thr311Ser) c.1214C>G (p.Thr405Ser) | |
| 3 | g.128483945G>T | CA354404623 | GATA2 | c.932C>A (p.Thr311Asn) c.1214C>A (p.Thr405Asn) | |
| 3 | g.128483946T>A | CA354404630 | GATA2 | c.931A>T (p.Thr311Ser) c.1213A>T (p.Thr405Ser) | ClinVar gnomAD v4 |
| 3 | g.128483946T>C | CA354404632 | GATA2 | c.931A>G (p.Thr311Ala) c.1213A>G (p.Thr405Ala) | dbSNP |
| 3 | g.128483946T>G | CA2599916 | GATA2 | c.931A>C (p.Thr311Pro) c.1213A>C (p.Thr405Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483946T= | CA1400717489 | GATA2 | c.931A= (p.Thr311=) c.1213A= (p.Thr405=) | |
| 3 | g.128483947G>A | CA435510006 | GATA2 | c.930C>T (p.Gly310=) c.1212C>T (p.Gly404=) | ClinVar dbSNP |
| 3 | g.128483947G>C | CA435510007 | GATA2 | c.930C>G (p.Gly310=) c.1212C>G (p.Gly404=) | |
| 3 | g.128483947G= | CA1400717493 | GATA2 | c.930C= (p.Gly310=) c.1212C= (p.Gly404=) | |
| 3 | g.128483947G>T | CA435510008 | GATA2 | c.930C>A (p.Gly310=) c.1212C>A (p.Gly404=) | |
| 3 | g.128483948C>A | CA354404643 | GATA2 | c.929G>T (p.Gly310Val) c.1211G>T (p.Gly404Val) | |
| 3 | g.128483948C= | CA1400717495 | GATA2 | c.929G= (p.Gly310=) c.1211G= (p.Gly404=) | |
| 3 | g.128483948C>G | CA354404648 | GATA2 | c.929G>C (p.Gly310Ala) c.1211G>C (p.Gly404Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483948C>T | CA354404650 | GATA2 | c.929G>A (p.Gly310Asp) c.1211G>A (p.Gly404Asp) | |
| 3 | g.128483949C>A | CA354404657 | GATA2 | c.928G>T (p.Gly310Cys) c.1210G>T (p.Gly404Cys) | gnomAD v4 |
| 3 | g.128483949C= | CA1400717498 | GATA2 | c.928G= (p.Gly310=) c.1210G= (p.Gly404=) | |
| 3 | g.128483949C>G | CA354404658 | GATA2 | c.928G>C (p.Gly310Arg) c.1210G>C (p.Gly404Arg) | |
| 3 | g.128483949C>T | CA354404655 | GATA2 | c.928G>A (p.Gly310Ser) c.1210G>A (p.Gly404Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128483950G>A | CA2599917 | GATA2 | c.927C>T (p.Asp309=) c.1209C>T (p.Asp403=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128483950G>C | CA354404662 | GATA2 | c.927C>G (p.Asp309Glu) c.1209C>G (p.Asp403Glu) | |
| 3 | g.128483950G= | CA1400717506 | GATA2 | c.927C= (p.Asp309=) c.1209C= (p.Asp403=) | |
| 3 | g.128483950G>T | CA354404667 | GATA2 | c.927C>A (p.Asp309Glu) c.1209C>A (p.Asp403Glu) | |
| 3 | g.128483951T>A | CA354404669 | GATA2 | c.926A>T (p.Asp309Val) c.1208A>T (p.Asp403Val) | COSMIC |
| 3 | g.128483951T>C | CA354404670 | GATA2 | c.926A>G (p.Asp309Gly) c.1208A>G (p.Asp403Gly) | dbSNP |
| 3 | g.128483951T>G | CA354404672 | GATA2 | c.926A>C (p.Asp309Ala) c.1208A>C (p.Asp403Ala) | |
| 3 | g.128483951T= | CA1400717512 | GATA2 | c.926A= (p.Asp309=) c.1208A= (p.Asp403=) | |
| 3 | g.128483952C>A | CA354404675 | GATA2 | c.925G>T (p.Asp309Tyr) c.1207G>T (p.Asp403Tyr) | |
| 3 | g.128483952C>G | CA354404677 | GATA2 | c.925G>C (p.Asp309His) c.1207G>C (p.Asp403His) | |
| 3 | g.128483952C>T | CA354404679 | GATA2 | c.925G>A (p.Asp309Asn) c.1207G>A (p.Asp403Asn) | |
| 3 | g.128483953C>A | CA435510009 | GATA2 | c.924G>T (p.Arg308=) c.1206G>T (p.Arg402=) | COSMIC |
| 3 | g.128483953C>G | CA435510010 | GATA2 | c.924G>C (p.Arg308=) c.1206G>C (p.Arg402=) | |
| 3 | g.128483953C>T | CA435510011 | GATA2 | c.924G>A (p.Arg308=) c.1206G>A (p.Arg402=) | |
| 3 | g.128483954C>A | CA354404684 | GATA2 | c.923G>T (p.Arg308Leu) c.1205G>T (p.Arg402Leu) | |
| 3 | g.128483954C>G | CA354404690 | GATA2 | c.923G>C (p.Arg308Pro) c.1205G>C (p.Arg402Pro) | dbSNP COSMIC |
| 3 | g.128483954C>T | CA354404693 | GATA2 | c.923G>A (p.Arg308Gln) c.1205G>A (p.Arg402Gln) | dbSNP COSMIC |
| 3 | g.128483955G>A | CA354404694 | GATA2 | c.922C>T (p.Arg308Trp) c.1204C>T (p.Arg402Trp) | gnomAD v4 |
| 3 | g.128483955G>C | CA354404700 | GATA2 | c.922C>G (p.Arg308Gly) c.1204C>G (p.Arg402Gly) | |
| 3 | g.128483955G>T | CA435510012 | GATA2 | c.922C>A (p.Arg308=) c.1204C>A (p.Arg402=) | |
| 3 | g.128483956C>A | CA435510013 | GATA2 | c.921G>T (p.Arg307=) c.1203G>T (p.Arg401=) | |
| 3 | g.128483956C>G | CA435510014 | GATA2 | c.921G>C (p.Arg307=) c.1203G>C (p.Arg401=) | |
| 3 | g.128483956C>T | CA435510015 | GATA2 | c.921G>A (p.Arg307=) c.1203G>A (p.Arg401=) | ClinVar dbSNP |
| 3 | g.128483957dup | CA2586965882 | GATA2 | c.921dup (p.Arg308AlafsTer?) c.1203dup (p.Arg402AlafsTer?) | |
| 3 | g.128483957C>A | CA354404715 | GATA2 | c.920G>T (p.Arg307Leu) c.1202G>T (p.Arg401Leu) | COSMIC |
| 3 | g.128483957C= | CA1400717518 | GATA2 | c.920G= (p.Arg307=) c.1202G= (p.Arg401=) | |
| 3 | g.128483957C>G | CA354404707 | GATA2 | c.920G>C (p.Arg307Pro) c.1202G>C (p.Arg401Pro) | |
| 3 | g.128483957C>T | CA354404705 | GATA2 | c.920G>A (p.Arg307Gln) c.1202G>A (p.Arg401Gln) | ClinVar dbSNP |
| 3 | g.128483958G>A | CA354404718 | GATA2 | c.919C>T (p.Arg307Trp) c.1201C>T (p.Arg401Trp) | COSMIC |
| 3 | g.128483958G>C | CA354404725 | GATA2 | c.919C>G (p.Arg307Gly) c.1201C>G (p.Arg401Gly) | |
| 3 | g.128483958G>T | CA435510016 | GATA2 | c.919C>A (p.Arg307=) c.1201C>A (p.Arg401=) | |
| 3 | g.128483959C>A | CA354404728 | GATA2 | c.918G>T (p.Trp306Cys) c.1200G>T (p.Trp400Cys) | |
| 3 | g.128483959C>G | CA354404731 | GATA2 | c.918G>C (p.Trp306Cys) c.1200G>C (p.Trp400Cys) | |
| 3 | g.128483959C>T | CA354404734 | GATA2 | c.918G>A (p.Trp306Ter) c.1200G>A (p.Trp400Ter) | |
| 3 | g.128483959_128483961dup | CA2695202343 | GATA2 | c.916_918dup (p.Trp306_Arg307insTrp) c.1198_1200dup (p.Trp400_Arg401insTrp) | |
| 3 | g.128483960C>A | CA354404739 | GATA2 | c.917G>T (p.Trp306Leu) c.1199G>T (p.Trp400Leu) | |
| 3 | g.128483960C>G | CA354404741 | GATA2 | c.917G>C (p.Trp306Ser) c.1199G>C (p.Trp400Ser) | |
| 3 | g.128483960C>T | CA354404750 | GATA2 | c.917G>A (p.Trp306Ter) c.1199G>A (p.Trp400Ter) | ClinVar dbSNP |
| 3 | g.128483961A>C | CA354404753 | GATA2 | c.916T>G (p.Trp306Gly) c.1198T>G (p.Trp400Gly) | |
| 3 | g.128483961A>G | CA354404754 | GATA2 | c.916T>C (p.Trp306Arg) c.1198T>C (p.Trp400Arg) | |
| 3 | g.128483961A>T | CA354404756 | GATA2 | c.916T>A (p.Trp306Arg) c.1198T>A (p.Trp400Arg) | |
| 3 | g.128483965_128483966del | CA645529133 | GATA2 | c.915_916del (p.Trp306AlafsTer?) c.1197_1198del (p.Trp400AlafsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.128483962G>A | CA435510017 | GATA2 | c.915C>T (p.Leu305=) c.1197C>T (p.Leu399=) | |
| 3 | g.128483962G>C | CA435510018 | GATA2 | c.915C>G (p.Leu305=) c.1197C>G (p.Leu399=) | ClinVar dbSNP |
| 3 | g.128483962G>T | CA435510019 | GATA2 | c.915C>A (p.Leu305=) c.1197C>A (p.Leu399=) | |
| 3 | g.128483963A>C | CA354404758 | GATA2 | c.914T>G (p.Leu305Arg) c.1196T>G (p.Leu399Arg) | |
| 3 | g.128483963A>G | CA354404760 | GATA2 | c.914T>C (p.Leu305Pro) c.1196T>C (p.Leu399Pro) | |
| 3 | g.128483963A>T | CA354404761 | GATA2 | c.914T>A (p.Leu305His) c.1196T>A (p.Leu399His) | |
| 3 | g.128483964G>A | CA354404765 | GATA2 | c.913C>T (p.Leu305Phe) c.1195C>T (p.Leu399Phe) | COSMIC |
| 3 | g.128483964G>C | CA354404767 | GATA2 | c.913C>G (p.Leu305Val) c.1195C>G (p.Leu399Val) | ClinVar gnomAD v4 |
| 3 | g.128483964G>T | CA354404762 | GATA2 | c.913C>A (p.Leu305Ile) c.1195C>A (p.Leu399Ile) | |
| 3 | g.128483965A>C | CA435510020 | GATA2 | c.912T>G (p.Pro304=) c.1194T>G (p.Pro398=) | |
| 3 | g.128483965A>G | CA435510021 | GATA2 | c.912T>C (p.Pro304=) c.1194T>C (p.Pro398=) | |
| 3 | g.128483965A>T | CA435510022 | GATA2 | c.912T>A (p.Pro304=) c.1194T>A (p.Pro398=) | |
| 3 | g.128483966G>A | CA354404770 | GATA2 | c.911C>T (p.Pro304Leu) c.1193C>T (p.Pro398Leu) | COSMIC |
| 3 | g.128483966G>C | CA354404768 | GATA2 | c.911C>G (p.Pro304Arg) c.1193C>G (p.Pro398Arg) | |
| 3 | g.128483966G>T | CA354404771 | GATA2 | c.911C>A (p.Pro304His) c.1193C>A (p.Pro398His) | ClinVar COSMIC |
| 3 | g.128483967G>A | CA354404774 | GATA2 | c.910C>T (p.Pro304Ser) c.1192C>T (p.Pro398Ser) | |
| 3 | g.128483967G>C | CA354404780 | GATA2 | c.910C>G (p.Pro304Ala) c.1192C>G (p.Pro398Ala) | |
| 3 | g.128483967G>T | CA354404778 | GATA2 | c.910C>A (p.Pro304Thr) c.1192C>A (p.Pro398Thr) | ClinVar COSMIC |
| 3 | g.128483968G>A | CA2599918 | GATA2 | c.909C>T (p.Thr303=) c.1191C>T (p.Thr397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483968G>C | CA435510023 | GATA2 | c.909C>G (p.Thr303=) c.1191C>G (p.Thr397=) | ClinVar dbSNP |
| 3 | g.128483968G= | CA1400717524 | GATA2 | c.909C= (p.Thr303=) c.1191C= (p.Thr397=) | |
| 3 | g.128483968G>T | CA435510024 | GATA2 | c.909C>A (p.Thr303=) c.1191C>A (p.Thr397=) | |
| 3 | g.128483969G>A | CA354404788 | GATA2 | c.908C>T (p.Thr303Ile) c.1190C>T (p.Thr397Ile) | |
| 3 | g.128483969G>C | CA354404786 | GATA2 | c.908C>G (p.Thr303Ser) c.1190C>G (p.Thr397Ser) | |
| 3 | g.128483969G>T | CA354404789 | GATA2 | c.908C>A (p.Thr303Asn) c.1190C>A (p.Thr397Asn) | |
| 3 | g.128483970T>A | CA354404793 | GATA2 | c.907A>T (p.Thr303Ser) c.1189A>T (p.Thr397Ser) | |
| 3 | g.128483970T>C | CA354404794 | GATA2 | c.907A>G (p.Thr303Ala) c.1189A>G (p.Thr397Ala) | |
| 3 | g.128483970T>G | CA354404797 | GATA2 | c.907A>C (p.Thr303Pro) c.1189A>C (p.Thr397Pro) | dbSNP |
| 3 | g.128483970T= | CA1400717528 | GATA2 | c.907A= (p.Thr303=) c.1189A= (p.Thr397=) | |
| 3 | g.128483971G>A | CA435510025 | GATA2 | c.906C>T (p.Ala302=) c.1188C>T (p.Ala396=) | |
| 3 | g.128483971G>C | CA435510026 | GATA2 | c.906C>G (p.Ala302=) c.1188C>G (p.Ala396=) | |
| 3 | g.128483971G>T | CA435510027 | GATA2 | c.906C>A (p.Ala302=) c.1188C>A (p.Ala396=) | |
| 3 | g.128483972G>A | CA354404802 | GATA2 | c.905C>T (p.Ala302Val) c.1187C>T (p.Ala396Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483972G>C | CA354404805 | GATA2 | c.905C>G (p.Ala302Gly) c.1187C>G (p.Ala396Gly) | |
| 3 | g.128483972G= | CA1400717533 | GATA2 | c.905C= (p.Ala302=) c.1187C= (p.Ala396=) | |
| 3 | g.128483972G>T | CA354404807 | GATA2 | c.905C>A (p.Ala302Asp) c.1187C>A (p.Ala396Asp) | |
| 3 | g.128483973_128483986del | CA2577890736 | GATA2 | c.892_905del (p.Cys298HisfsTer?) c.1174_1187del (p.Cys392HisfsTer?) | |
| 3 | g.128483973C>A | CA354404813 | GATA2 | c.904G>T (p.Ala302Ser) c.1186G>T (p.Ala396Ser) | COSMIC |
| 3 | g.128483973C= | CA1400717540 | GATA2 | c.904G= (p.Ala302=) c.1186G= (p.Ala396=) | |
| 3 | g.128483973C>G | CA354404815 | GATA2 | c.904G>C (p.Ala302Pro) c.1186G>C (p.Ala396Pro) | |
| 3 | g.128483973C>T | CA354404817 | GATA2 | c.904G>A (p.Ala302Thr) c.1186G>A (p.Ala396Thr) | COSMIC |
| 3 | g.128483974T>A | CA435510028 | GATA2 | c.903A>T (p.Thr301=) c.1185A>T (p.Thr395=) | |
| 3 | g.128483974T>C | CA435510029 | GATA2 | c.903A>G (p.Thr301=) c.1185A>G (p.Thr395=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128483974T>G | CA435510030 | GATA2 | c.903A>C (p.Thr301=) c.1185A>C (p.Thr395=) | |
| 3 | g.128483974T= | CA1400717550 | GATA2 | c.903A= (p.Thr301=) c.1185A= (p.Thr395=) | |
| 3 | g.128483976_128483989dup | CA891842733 | GATA2 | c.890_903dup (p.Ala302ThrfsTer29) c.1172_1185dup (p.Ala396ThrfsTer29) | ClinVar dbSNP |
| 3 | g.128483975G>A | CA354404818 | GATA2 | c.902C>T (p.Thr301Ile) c.1184C>T (p.Thr395Ile) | dbSNP gnomAD v4 |
| 3 | g.128483975G>C | CA354404824 | GATA2 | c.902C>G (p.Thr301Arg) c.1184C>G (p.Thr395Arg) | ClinVar dbSNP |
| 3 | g.128483975G= | CA1400717554 | GATA2 | c.902C= (p.Thr301=) c.1184C= (p.Thr395=) | |
| 3 | g.128483975G>T | CA354404826 | GATA2 | c.902C>A (p.Thr301Lys) c.1184C>A (p.Thr395Lys) | |
| 3 | g.128483976T>A | CA354404833 | GATA2 | c.901A>T (p.Thr301Ser) c.1183A>T (p.Thr395Ser) | |
| 3 | g.128483976T>C | CA354404830 | GATA2 | c.901A>G (p.Thr301Ala) c.1183A>G (p.Thr395Ala) | |
| 3 | g.128483976T>G | CA354404831 | GATA2 | c.901A>C (p.Thr301Pro) c.1183A>C (p.Thr395Pro) | |
| 3 | g.128483977G>A | CA435510031 | GATA2 | c.900C>T (p.Ala300=) c.1182C>T (p.Ala394=) | |
| 3 | g.128483977G>C | CA435510032 | GATA2 | c.900C>G (p.Ala300=) c.1182C>G (p.Ala394=) | |
| 3 | g.128483977G>T | CA435510033 | GATA2 | c.900C>A (p.Ala300=) c.1182C>A (p.Ala394=) | |
| 3 | g.128483978G>A | CA354404834 | GATA2 | c.899C>T (p.Ala300Val) c.1181C>T (p.Ala394Val) | |
| 3 | g.128483978G>C | CA354404835 | GATA2 | c.899C>G (p.Ala300Gly) c.1181C>G (p.Ala394Gly) | |
| 3 | g.128483978G>T | CA354404836 | GATA2 | c.899C>A (p.Ala300Asp) c.1181C>A (p.Ala394Asp) | |
| 3 | g.128483979C>A | CA354404838 | GATA2 | c.898G>T (p.Ala300Ser) c.1180G>T (p.Ala394Ser) | |
| 3 | g.128483979C>G | CA354404840 | GATA2 | c.898G>C (p.Ala300Pro) c.1180G>C (p.Ala394Pro) | |
| 3 | g.128483979C>T | CA354404843 | GATA2 | c.898G>A (p.Ala300Thr) c.1180G>A (p.Ala394Thr) | ClinVar |
| 3 | g.128483982dup | CA2586965883 | GATA2 | c.898dup (p.Ala300GlyfsTer?) c.1180dup (p.Ala394GlyfsTer?) | |
| 3 | g.128483980C>A | CA435510034 | GATA2 | c.897G>T (p.Gly299=) c.1179G>T (p.Gly393=) | ClinVar |
| 3 | g.128483980C>G | CA435510035 | GATA2 | c.897G>C (p.Gly299=) c.1179G>C (p.Gly393=) | |
| 3 | g.128483980C>T | CA435510036 | GATA2 | c.897G>A (p.Gly299=) c.1179G>A (p.Gly393=) | |
| 3 | g.128483981C>A | CA354404850 | GATA2 | c.896G>T (p.Gly299Val) c.1178G>T (p.Gly393Val) | |
| 3 | g.128483981C>G | CA354404852 | GATA2 | c.896G>C (p.Gly299Ala) c.1178G>C (p.Gly393Ala) | |
| 3 | g.128483981C>T | CA354404856 | GATA2 | c.896G>A (p.Gly299Glu) c.1178G>A (p.Gly393Glu) | COSMIC |
| 3 | g.128483982C>A | CA354404862 | GATA2 | c.895G>T (p.Gly299Trp) c.1177G>T (p.Gly393Trp) | |
| 3 | g.128483982C= | CA1400717561 | GATA2 | c.895G= (p.Gly299=) c.1177G= (p.Gly393=) | |
| 3 | g.128483982C>G | CA354404864 | GATA2 | c.895G>C (p.Gly299Arg) c.1177G>C (p.Gly393Arg) | |
| 3 | g.128483982C>T | CA354404871 | GATA2 | c.895G>A (p.Gly299Arg) c.1177G>A (p.Gly393Arg) | dbSNP |
| 3 | g.128483984_128483985del | CA2697556823 | GATA2 | c.894_895del (p.Cys298TrpfsTer?) c.1176_1177del (p.Cys392TrpfsTer?) | ClinVar |
| 3 | g.128483983A>C | CA354404877 | GATA2 | c.894T>G (p.Cys298Trp) c.1176T>G (p.Cys392Trp) | |
| 3 | g.128483983A>G | CA435510037 | GATA2 | c.894T>C (p.Cys298=) c.1176T>C (p.Cys392=) | |
| 3 | g.128483983A>T | CA354404878 | GATA2 | c.894T>A (p.Cys298Ter) c.1176T>A (p.Cys392Ter) | |
| 3 | g.128483984C>A | CA354404879 | GATA2 | c.893G>T (p.Cys298Phe) c.1175G>T (p.Cys392Phe) | |
| 3 | g.128483984C>G | CA354404880 | GATA2 | c.893G>C (p.Cys298Ser) c.1175G>C (p.Cys392Ser) | |
| 3 | g.128483984C>T | CA354404883 | GATA2 | c.893G>A (p.Cys298Tyr) c.1175G>A (p.Cys392Tyr) | |
| 3 | g.128483985A>C | CA354404885 | GATA2 | c.892T>G (p.Cys298Gly) c.1174T>G (p.Cys392Gly) | |
| 3 | g.128483985A>G | CA354404887 | GATA2 | c.892T>C (p.Cys298Arg) c.1174T>C (p.Cys392Arg) | |
| 3 | g.128483985A>T | CA354404892 | GATA2 | c.892T>A (p.Cys298Ser) c.1174T>A (p.Cys392Ser) | |
| 3 | g.128483985dup | CA2499216464 | GATA2 | c.892dup (p.Cys298LeufsTer?) c.1174dup (p.Cys392LeufsTer?) | ClinVar dbSNP |
| 3 | g.128483986G>A | CA435510038 | GATA2 | c.891C>T (p.Asn297=) c.1173C>T (p.Asn391=) | ClinVar dbSNP |
| 3 | g.128483986G>C | CA354404897 | GATA2 | c.891C>G (p.Asn297Lys) c.1173C>G (p.Asn391Lys) | |
| 3 | g.128483986G>T | CA354404898 | GATA2 | c.891C>A (p.Asn297Lys) c.1173C>A (p.Asn391Lys) | COSMIC |
| 3 | g.128483986_128483987delinsGT | CA1400717563 | GATA2 | c.890_891delinsAC (p.Asn297=) c.1172_1173delinsAC (p.Asn391=) | |
| 3 | g.128483987T>A | CA354404904 | GATA2 | c.890A>T (p.Asn297Ile) c.1172A>T (p.Asn391Ile) | |
| 3 | g.128483987T>C | CA354404909 | GATA2 | c.890A>G (p.Asn297Ser) c.1172A>G (p.Asn391Ser) | ClinVar gnomAD v4 COSMIC |
| 3 | g.128483987T>G | CA354404910 | GATA2 | c.890A>C (p.Asn297Thr) c.1172A>C (p.Asn391Thr) | |
| 3 | g.128483988del | CA915941563 | GATA2 | c.890del (p.Asn297ThrfsTer29) c.1172del (p.Asn391ThrfsTer29) | ClinVar dbSNP |
| 3 | g.128483988T>A | CA354404914 | GATA2 | c.889A>T (p.Asn297Tyr) c.1171A>T (p.Asn391Tyr) | |
| 3 | g.128483988T>C | CA354404913 | GATA2 | c.889A>G (p.Asn297Asp) c.1171A>G (p.Asn391Asp) | |
| 3 | g.128483988T>G | CA354404912 | GATA2 | c.889A>C (p.Asn297His) c.1171A>C (p.Asn391His) | |
| 3 | g.128483989G>A | CA2599919 | GATA2 | c.888C>T (p.Val296=) c.1170C>T (p.Val390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128483989G>C | CA435510039 | GATA2 | c.888C>G (p.Val296=) c.1170C>G (p.Val390=) | |
| 3 | g.128483989G= | CA1400717568 | GATA2 | c.888C= (p.Val296=) c.1170C= (p.Val390=) | |
| 3 | g.128483989G>T | CA435510040 | GATA2 | c.888C>A (p.Val296=) c.1170C>A (p.Val390=) | |
| 3 | g.128483990A>C | CA354404915 | GATA2 | c.887T>G (p.Val296Gly) c.1169T>G (p.Val390Gly) | |
| 3 | g.128483990A>G | CA354404916 | GATA2 | c.887T>C (p.Val296Ala) c.1169T>C (p.Val390Ala) | |
| 3 | g.128483990A>T | CA354404918 | GATA2 | c.887T>A (p.Val296Asp) c.1169T>A (p.Val390Asp) | |
| 3 | g.128483991C>A | CA354404921 | GATA2 | c.886G>T (p.Val296Phe) c.1168G>T (p.Val390Phe) | |
| 3 | g.128483991C>G | CA354404923 | GATA2 | c.886G>C (p.Val296Leu) c.1168G>C (p.Val390Leu) | |
| 3 | g.128483991C>T | CA354404926 | GATA2 | c.886G>A (p.Val296Ile) c.1168G>A (p.Val390Ile) | ClinVar |
| 3 | g.128483992A>C | CA354404931 | GATA2 | c.885T>G (p.Cys295Trp) c.1167T>G (p.Cys389Trp) | |
| 3 | g.128483992A>G | CA435510041 | GATA2 | c.885T>C (p.Cys295=) c.1167T>C (p.Cys389=) | |
| 3 | g.128483992A>T | CA354404932 | GATA2 | c.885T>A (p.Cys295Ter) c.1167T>A (p.Cys389Ter) | |
| 3 | g.128483993C>A | CA354404935 | GATA2 | c.884G>T (p.Cys295Phe) c.1166G>T (p.Cys389Phe) | |
| 3 | g.128483993C>G | CA354404936 | GATA2 | c.884G>C (p.Cys295Ser) c.1166G>C (p.Cys389Ser) | |
| 3 | g.128483993C>T | CA354404938 | GATA2 | c.884G>A (p.Cys295Tyr) c.1166G>A (p.Cys389Tyr) | |
| 3 | g.128483994A>C | CA354404946 | GATA2 | c.883T>G (p.Cys295Gly) c.1165T>G (p.Cys389Gly) | |
| 3 | g.128483994A>G | CA354404944 | GATA2 | c.883T>C (p.Cys295Arg) c.1165T>C (p.Cys389Arg) | |
| 3 | g.128483994A>T | CA354404943 | GATA2 | c.883T>A (p.Cys295Ser) c.1165T>A (p.Cys389Ser) | |
| 3 | g.128483995C>A | CA354404958 | GATA2 | c.882G>T (p.Glu294Asp) c.1164G>T (p.Glu388Asp) | |
| 3 | g.128483995C>G | CA354404961 | GATA2 | c.882G>C (p.Glu294Asp) c.1164G>C (p.Glu388Asp) | |
| 3 | g.128483995C>T | CA435510042 | GATA2 | c.882G>A (p.Glu294=) c.1164G>A (p.Glu388=) | |
| 3 | g.128483996T>A | CA354404962 | GATA2 | c.881A>T (p.Glu294Val) c.1163A>T (p.Glu388Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128483996T>C | CA354404964 | GATA2 | c.881A>G (p.Glu294Gly) c.1163A>G (p.Glu388Gly) | gnomAD v4 |
| 3 | g.128483996T>G | CA354404965 | GATA2 | c.881A>C (p.Glu294Ala) c.1163A>C (p.Glu388Ala) | |
| 3 | g.128483996T= | CA1400717571 | GATA2 | c.881A= (p.Glu294=) c.1163A= (p.Glu388=) | |
| 3 | g.128483997C>A | CA354404966 | GATA2 | c.880G>T (p.Glu294Ter) c.1162G>T (p.Glu388Ter) | |
| 3 | g.128483997C>G | CA354404968 | GATA2 | c.880G>C (p.Glu294Gln) c.1162G>C (p.Glu388Gln) | |
| 3 | g.128483997C>T | CA354404971 | GATA2 | c.880G>A (p.Glu294Lys) c.1162G>A (p.Glu388Lys) | |
| 3 | g.128483999del | CA2573052071 | GATA2 | c.880del (p.Glu294SerfsTer?) c.1162del (p.Glu388SerfsTer?) | ClinVar dbSNP |
| 3 | g.128483998C>A | CA435510043 | GATA2 | c.879G>T (p.Arg293=) c.1161G>T (p.Arg387=) | |
| 3 | g.128483998C= | CA1400717576 | GATA2 | c.879G= (p.Arg293=) c.1161G= (p.Arg387=) | |
| 3 | g.128483998C>G | CA435510044 | GATA2 | c.879G>C (p.Arg293=) c.1161G>C (p.Arg387=) | |
| 3 | g.128483998C>T | CA2599920 | GATA2 | c.879G>A (p.Arg293=) c.1161G>A (p.Arg387=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128483999C>A | CA354404975 | GATA2 | c.878G>T (p.Arg293Leu) c.1160G>T (p.Arg387Leu) | |
| 3 | g.128483999C= | CA1400717583 | GATA2 | c.878G= (p.Arg293=) c.1160G= (p.Arg387=) | |
| 3 | g.128483999C>G | CA354404977 | GATA2 | c.878G>C (p.Arg293Pro) c.1160G>C (p.Arg387Pro) | |
| 3 | g.128483999C>T | CA354404978 | GATA2 | c.878G>A (p.Arg293Gln) c.1160G>A (p.Arg387Gln) | ClinVar dbSNP COSMIC |
| 3 | g.128484000G>A | CA354404980 | GATA2 | c.877C>T (p.Arg293Trp) c.1159C>T (p.Arg387Trp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128484000G>C | CA354404983 | GATA2 | c.877C>G (p.Arg293Gly) c.1159C>G (p.Arg387Gly) | |
| 3 | g.128484000G= | CA1400717586 | GATA2 | c.877C= (p.Arg293=) c.1159C= (p.Arg387=) | |
| 3 | g.128484000G>T | CA435510045 | GATA2 | c.877C>A (p.Arg293=) c.1159C>A (p.Arg387=) | |
| 3 | g.128484001G>A | CA435510046 | GATA2 | c.876C>T (p.Gly292=) c.1158C>T (p.Gly386=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128484001G>C | CA435510047 | GATA2 | c.876C>G (p.Gly292=) c.1158C>G (p.Gly386=) | |
| 3 | g.128484001G= | CA1400717588 | GATA2 | c.876C= (p.Gly292=) c.1158C= (p.Gly386=) | |
| 3 | g.128484001G>T | CA435510048 | GATA2 | c.876C>A (p.Gly292=) c.1158C>A (p.Gly386=) |