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.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.128486156T>A | CA354406745 | GATA2 | c.442A>T (p.Ser148Cys) c.724A>T (p.Ser242Cys) | |
| 3 | g.128486156T>C | CA354406746 | GATA2 | c.442A>G (p.Ser148Gly) c.724A>G (p.Ser242Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486156T>G | CA354406747 | GATA2 | c.442A>C (p.Ser148Arg) c.724A>C (p.Ser242Arg) | |
| 3 | g.128486156T= | CA1400719427 | GATA2 | c.442A= (p.Ser148=) c.724A= (p.Ser242=) | |
| 3 | g.128486157C>A | CA435763900 | GATA2 | c.441G>T (p.Gly147=) c.723G>T (p.Gly241=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486157C= | CA1400719428 | GATA2 | c.441G= (p.Gly147=) c.723G= (p.Gly241=) | |
| 3 | g.128486157C>G | CA435763901 | GATA2 | c.441G>C (p.Gly147=) c.723G>C (p.Gly241=) | dbSNP gnomAD v4 |
| 3 | g.128486157C>T | CA435763902 | GATA2 | c.441G>A (p.Gly147=) c.723G>A (p.Gly241=) | |
| 3 | g.128486158C>A | CA354406748 | GATA2 | c.440G>T (p.Gly147Val) c.722G>T (p.Gly241Val) | gnomAD v4 |
| 3 | g.128486158C>G | CA354406749 | GATA2 | c.440G>C (p.Gly147Ala) c.722G>C (p.Gly241Ala) | |
| 3 | g.128486158C>T | CA354406750 | GATA2 | c.440G>A (p.Gly147Glu) c.722G>A (p.Gly241Glu) | gnomAD v4 |
| 3 | g.128486159C>A | CA354406753 | GATA2 | c.439G>T (p.Gly147Trp) c.721G>T (p.Gly241Trp) | |
| 3 | g.128486159C>G | CA354406752 | GATA2 | c.439G>C (p.Gly147Arg) c.721G>C (p.Gly241Arg) | |
| 3 | g.128486159C>T | CA354406751 | GATA2 | c.439G>A (p.Gly147Arg) c.721G>A (p.Gly241Arg) | ClinVar dbSNP |
| 3 | g.128486160A>C | CA435763905 | GATA2 | c.438T>G (p.Gly146=) c.720T>G (p.Gly240=) | gnomAD v4 |
| 3 | g.128486160A>G | CA435763906 | GATA2 | c.438T>C (p.Gly146=) c.720T>C (p.Gly240=) | |
| 3 | g.128486160A>T | CA435763907 | GATA2 | c.438T>A (p.Gly146=) c.720T>A (p.Gly240=) | |
| 3 | g.128486161C>A | CA2600029 | GATA2 | c.437G>T (p.Gly146Val) c.719G>T (p.Gly240Val) | ClinVar dbSNP ExAC gnomAD v4 |
| 3 | g.128486161C= | CA1400719429 | GATA2 | c.437G= (p.Gly146=) c.719G= (p.Gly240=) | |
| 3 | g.128486161C>G | CA354406756 | GATA2 | c.437G>C (p.Gly146Ala) c.719G>C (p.Gly240Ala) | gnomAD v4 |
| 3 | g.128486161C>T | CA354406758 | GATA2 | c.437G>A (p.Gly146Asp) c.719G>A (p.Gly240Asp) | |
| 3 | g.128486165dup | CA2499216467 | GATA2 | c.437dup (p.Gly147TrpfsTer?) c.719dup (p.Gly241TrpfsTer?) | ClinVar dbSNP |
| 3 | g.128486165del | CA1139532786 | GATA2 | c.437del (p.Gly146ValfsTer?) c.719del (p.Gly240ValfsTer?) | ClinVar dbSNP |
| 3 | g.128486162C>A | CA354406759 | GATA2 | c.436G>T (p.Gly146Cys) c.718G>T (p.Gly240Cys) | |
| 3 | g.128486162C= | CA1400719430 | GATA2 | c.436G= (p.Gly146=) c.718G= (p.Gly240=) | |
| 3 | g.128486162C>G | CA354406761 | GATA2 | c.436G>C (p.Gly146Arg) c.718G>C (p.Gly240Arg) | |
| 3 | g.128486162C>T | CA2600030 | GATA2 | c.436G>A (p.Gly146Ser) c.718G>A (p.Gly240Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486163C>A | CA435763911 | GATA2 | c.435G>T (p.Gly145=) c.717G>T (p.Gly239=) | |
| 3 | g.128486163C>G | CA435763912 | GATA2 | c.435G>C (p.Gly145=) c.717G>C (p.Gly239=) | |
| 3 | g.128486163C>T | CA435763913 | GATA2 | c.435G>A (p.Gly145=) c.717G>A (p.Gly239=) | |
| 3 | g.128486164C>A | CA354406768 | GATA2 | c.434G>T (p.Gly145Val) c.716G>T (p.Gly239Val) | dbSNP |
| 3 | g.128486164C>G | CA354406766 | GATA2 | c.434G>C (p.Gly145Ala) c.716G>C (p.Gly239Ala) | |
| 3 | g.128486164C>T | CA354406764 | GATA2 | c.434G>A (p.Gly145Glu) c.716G>A (p.Gly239Glu) | |
| 3 | g.128486165C>A | CA354406769 | GATA2 | c.433G>T (p.Gly145Trp) c.715G>T (p.Gly239Trp) | gnomAD v4 |
| 3 | g.128486165C>G | CA354406771 | GATA2 | c.433G>C (p.Gly145Arg) c.715G>C (p.Gly239Arg) | ClinVar |
| 3 | g.128486165C>T | CA354406773 | GATA2 | c.433G>A (p.Gly145Arg) c.715G>A (p.Gly239Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486166A= | CA1400719431 | GATA2 | c.432T= (p.Ala144=) c.714T= (p.Ala238=) | |
| 3 | g.128486166A>C | CA435763914 | GATA2 | c.432T>G (p.Ala144=) c.714T>G (p.Ala238=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486166A>G | CA435763915 | GATA2 | c.432T>C (p.Ala144=) c.714T>C (p.Ala238=) | |
| 3 | g.128486166A>T | CA435763916 | GATA2 | c.432T>A (p.Ala144=) c.714T>A (p.Ala238=) | |
| 3 | g.128486167G>A | CA354406775 | GATA2 | c.431C>T (p.Ala144Val) c.713C>T (p.Ala238Val) | gnomAD v4 |
| 3 | g.128486167G>C | CA354406777 | GATA2 | c.431C>G (p.Ala144Gly) c.713C>G (p.Ala238Gly) | ClinVar dbSNP |
| 3 | g.128486167G= | CA1400719432 | GATA2 | c.431C= (p.Ala144=) c.713C= (p.Ala238=) | |
| 3 | g.128486167G>T | CA2600031 | GATA2 | c.431C>A (p.Ala144Asp) c.713C>A (p.Ala238Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486168C>A | CA2600032 | GATA2 | c.430G>T (p.Ala144Ser) c.712G>T (p.Ala238Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486168C= | CA1400719433 | GATA2 | c.430G= (p.Ala144=) c.712G= (p.Ala238=) | |
| 3 | g.128486168C>G | CA354406781 | GATA2 | c.430G>C (p.Ala144Pro) c.712G>C (p.Ala238Pro) | |
| 3 | g.128486168C>T | CA354406780 | GATA2 | c.430G>A (p.Ala144Thr) c.712G>A (p.Ala238Thr) | ClinVar |
| 3 | g.128486169C>A | CA435763920 | GATA2 | c.429G>T (p.Gly143=) c.711G>T (p.Gly237=) | gnomAD v4 |
| 3 | g.128486169C= | CA1400719434 | GATA2 | c.429G= (p.Gly143=) c.711G= (p.Gly237=) | |
| 3 | g.128486169C>G | CA435763921 | GATA2 | c.429G>C (p.Gly143=) c.711G>C (p.Gly237=) | |
| 3 | g.128486169C>T | CA435763923 | GATA2 | c.429G>A (p.Gly143=) c.711G>A (p.Gly237=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486170C>A | CA354406784 | GATA2 | c.428G>T (p.Gly143Val) c.710G>T (p.Gly237Val) | |
| 3 | g.128486170C= | CA1400719435 | GATA2 | c.428G= (p.Gly143=) c.710G= (p.Gly237=) | |
| 3 | g.128486170C>G | CA354406785 | GATA2 | c.428G>C (p.Gly143Ala) c.710G>C (p.Gly237Ala) | |
| 3 | g.128486170C>T | CA354406786 | GATA2 | c.428G>A (p.Gly143Glu) c.710G>A (p.Gly237Glu) | dbSNP |
| 3 | g.128486171C>A | CA354406788 | GATA2 | c.427G>T (p.Gly143Trp) c.709G>T (p.Gly237Trp) | |
| 3 | g.128486171C>G | CA354406790 | GATA2 | c.427G>C (p.Gly143Arg) c.709G>C (p.Gly237Arg) | gnomAD v4 |
| 3 | g.128486171C>T | CA354406792 | GATA2 | c.427G>A (p.Gly143Arg) c.709G>A (p.Gly237Arg) | |
| 3 | g.128486172T>A | CA435763926 | GATA2 | c.426A>T (p.Pro142=) c.708A>T (p.Pro236=) | |
| 3 | g.128486172T>C | CA435763927 | GATA2 | c.426A>G (p.Pro142=) c.708A>G (p.Pro236=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486172T>G | CA435763928 | GATA2 | c.426A>C (p.Pro142=) c.708A>C (p.Pro236=) | |
| 3 | g.128486172T= | CA1400719436 | GATA2 | c.426A= (p.Pro142=) c.708A= (p.Pro236=) | |
| 3 | g.128486173G>A | CA354406794 | GATA2 | c.425C>T (p.Pro142Leu) c.707C>T (p.Pro236Leu) | ClinVar dbSNP gnomAD v2 |
| 3 | g.128486173G>C | CA354406795 | GATA2 | c.425C>G (p.Pro142Arg) c.707C>G (p.Pro236Arg) | |
| 3 | g.128486173G= | CA1400719437 | GATA2 | c.425C= (p.Pro142=) c.707C= (p.Pro236=) | |
| 3 | g.128486173G>T | CA354406796 | GATA2 | c.425C>A (p.Pro142Gln) c.707C>A (p.Pro236Gln) | |
| 3 | g.128486174G>A | CA354406798 | GATA2 | c.424C>T (p.Pro142Ser) c.706C>T (p.Pro236Ser) | ClinVar dbSNP |
| 3 | g.128486174G>C | CA354406800 | GATA2 | c.424C>G (p.Pro142Ala) c.706C>G (p.Pro236Ala) | ClinVar dbSNP |
| 3 | g.128486174G= | CA1400719438 | GATA2 | c.424C= (p.Pro142=) c.706C= (p.Pro236=) | |
| 3 | g.128486174G>T | CA354406801 | GATA2 | c.424C>A (p.Pro142Thr) c.706C>A (p.Pro236Thr) | |
| 3 | g.128486175G>A | CA2600033 | GATA2 | c.423C>T (p.Tyr141=) c.705C>T (p.Tyr235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486175G>C | CA354406805 | GATA2 | c.423C>G (p.Tyr141Ter) c.705C>G (p.Tyr235Ter) | ClinVar |
| 3 | g.128486175G= | CA1400719439 | GATA2 | c.423C= (p.Tyr141=) c.705C= (p.Tyr235=) | |
| 3 | g.128486175G>T | CA354406803 | GATA2 | c.423C>A (p.Tyr141Ter) c.705C>A (p.Tyr235Ter) | ClinVar dbSNP |
| 3 | g.128486176T>A | CA354406808 | GATA2 | c.422A>T (p.Tyr141Phe) c.704A>T (p.Tyr235Phe) | |
| 3 | g.128486176T>C | CA354406810 | GATA2 | c.422A>G (p.Tyr141Cys) c.704A>G (p.Tyr235Cys) | |
| 3 | g.128486176T>G | CA354406811 | GATA2 | c.422A>C (p.Tyr141Ser) c.704A>C (p.Tyr235Ser) | |
| 3 | g.128486177A>C | CA354406813 | GATA2 | c.421T>G (p.Tyr141Asp) c.703T>G (p.Tyr235Asp) | |
| 3 | g.128486177A>G | CA354406815 | GATA2 | c.421T>C (p.Tyr141His) c.703T>C (p.Tyr235His) | ClinVar |
| 3 | g.128486177A>T | CA354406817 | GATA2 | c.421T>A (p.Tyr141Asn) c.703T>A (p.Tyr235Asn) | |
| 3 | g.128486178C>A | CA435763933 | GATA2 | c.420G>T (p.Val140=) c.702G>T (p.Val234=) | gnomAD v4 |
| 3 | g.128486178C>G | CA435763935 | GATA2 | c.420G>C (p.Val140=) c.702G>C (p.Val234=) | |
| 3 | g.128486178C>T | CA435763937 | GATA2 | c.420G>A (p.Val140=) c.702G>A (p.Val234=) | ClinVar dbSNP |
| 3 | g.128486179A= | CA1400719440 | GATA2 | c.419T= (p.Val140=) c.701T= (p.Val234=) | |
| 3 | g.128486179A>C | CA354406820 | GATA2 | c.419T>G (p.Val140Gly) c.701T>G (p.Val234Gly) | gnomAD v4 |
| 3 | g.128486179A>G | CA354406822 | GATA2 | c.419T>C (p.Val140Ala) c.701T>C (p.Val234Ala) | ClinVar dbSNP |
| 3 | g.128486179A>T | CA354406825 | GATA2 | c.419T>A (p.Val140Glu) c.701T>A (p.Val234Glu) | |
| 3 | g.128486180C>A | CA354406827 | GATA2 | c.418G>T (p.Val140Leu) c.700G>T (p.Val234Leu) | |
| 3 | g.128486180C>G | CA354406830 | GATA2 | c.418G>C (p.Val140Leu) c.700G>C (p.Val234Leu) | |
| 3 | g.128486180C>T | CA354406832 | GATA2 | c.418G>A (p.Val140Met) c.700G>A (p.Val234Met) | ClinVar |
| 3 | g.128486181A= | CA1400719441 | GATA2 | c.417T= (p.Ser139=) c.699T= (p.Ser233=) | |
| 3 | g.128486181A>C | CA435763939 | GATA2 | c.417T>G (p.Ser139=) c.699T>G (p.Ser233=) | |
| 3 | g.128486181A>G | CA435763940 | GATA2 | c.417T>C (p.Ser139=) c.699T>C (p.Ser233=) | ClinVar dbSNP |
| 3 | g.128486181A>T | CA435763942 | GATA2 | c.417T>A (p.Ser139=) c.699T>A (p.Ser233=) | |
| 3 | g.128486181dup | CA1139532785 | GATA2 | c.417dup (p.Val140CysfsTer?) c.699dup (p.Val234CysfsTer?) | ClinVar dbSNP |
| 3 | g.128486185_128486186del | CA645523651 | GATA2 | c.416_417del (p.Ser139CysfsTer?) c.698_699del (p.Ser233CysfsTer?) | ClinVar dbSNP COSMIC |
| 3 | g.128486183_128486186del | CA1139532784 | GATA2 | c.414_417del (p.Ser139CysfsTer?) c.696_699del (p.Ser233CysfsTer?) | ClinVar dbSNP |
| 3 | g.128486182G>A | CA354406840 | GATA2 | c.416C>T (p.Ser139Phe) c.698C>T (p.Ser233Phe) | gnomAD v4 |
| 3 | g.128486182G>C | CA354406839 | GATA2 | c.416C>G (p.Ser139Cys) c.698C>G (p.Ser233Cys) | |
| 3 | g.128486182G>T | CA354406836 | GATA2 | c.416C>A (p.Ser139Tyr) c.698C>A (p.Ser233Tyr) | |
| 3 | g.128486183A>C | CA354406841 | GATA2 | c.415T>G (p.Ser139Ala) c.697T>G (p.Ser233Ala) | |
| 3 | g.128486183A>G | CA354406845 | GATA2 | c.415T>C (p.Ser139Pro) c.697T>C (p.Ser233Pro) | ClinVar gnomAD v4 |
| 3 | g.128486183A>T | CA354406847 | GATA2 | c.415T>A (p.Ser139Thr) c.697T>A (p.Ser233Thr) | |
| 3 | g.128486184G>A | CA435763945 | GATA2 | c.414C>T (p.Leu138=) c.696C>T (p.Leu232=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486184G>C | CA435763947 | GATA2 | c.414C>G (p.Leu138=) c.696C>G (p.Leu232=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486184G= | CA1400719442 | GATA2 | c.414C= (p.Leu138=) c.696C= (p.Leu232=) | |
| 3 | g.128486184G>T | CA435763948 | GATA2 | c.414C>A (p.Leu138=) c.696C>A (p.Leu232=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486185A= | CA1400719443 | GATA2 | c.413T= (p.Leu138=) c.695T= (p.Leu232=) | |
| 3 | g.128486185A>C | CA354406848 | GATA2 | c.413T>G (p.Leu138Arg) c.695T>G (p.Leu232Arg) | |
| 3 | g.128486185A>G | CA2600034 | GATA2 | c.413T>C (p.Leu138Pro) c.695T>C (p.Leu232Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486185A>T | CA354406852 | GATA2 | c.413T>A (p.Leu138His) c.695T>A (p.Leu232His) | gnomAD v4 |
| 3 | g.128486186G>A | CA354406854 | GATA2 | c.412C>T (p.Leu138Phe) c.694C>T (p.Leu232Phe) | |
| 3 | g.128486186G>C | CA354406856 | GATA2 | c.412C>G (p.Leu138Val) c.694C>G (p.Leu232Val) | |
| 3 | g.128486186G>T | CA354406858 | GATA2 | c.412C>A (p.Leu138Ile) c.694C>A (p.Leu232Ile) | gnomAD v4 |
| 3 | g.128486187T>A | CA435763949 | GATA2 | c.411A>T (p.Pro137=) c.693A>T (p.Pro231=) | |
| 3 | g.128486187T>C | CA435763950 | GATA2 | c.411A>G (p.Pro137=) c.693A>G (p.Pro231=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486187T>G | CA435763951 | GATA2 | c.411A>C (p.Pro137=) c.693A>C (p.Pro231=) | |
| 3 | g.128486187T= | CA1400719444 | GATA2 | c.411A= (p.Pro137=) c.693A= (p.Pro231=) | |
| 3 | g.128486187_128486196delinsTGGGCCTCCA | CA1400719445 | GATA2 | c.402_411delinsTGGAGGCCCA (p.Pro134=) c.684_693delinsTGGAGGCCCA (p.Pro228=) | |
| 3 | g.128486188G>A | CA354406861 | GATA2 | c.410C>T (p.Pro137Leu) c.692C>T (p.Pro231Leu) | gnomAD v4 |
| 3 | g.128486188G>C | CA354406863 | GATA2 | c.410C>G (p.Pro137Arg) c.692C>G (p.Pro231Arg) | |
| 3 | g.128486188G>T | CA354406866 | GATA2 | c.410C>A (p.Pro137Gln) c.692C>A (p.Pro231Gln) | |
| 3 | g.128486188_128486193delinsGGGCCT | CA1400719447 | GATA2 | c.405_410delinsAGGCCC (p.Gly135=) c.687_692delinsAGGCCC (p.Gly229=) | |
| 3 | g.128486198_128486206dup | CA2667541073 | GATA2 | c.402_410dup (p.Pro137_Leu138insGlyGlyPro) c.684_692dup (p.Pro231_Leu232insGlyGlyPro) | gnomAD v4 |
| 3 | g.128486198_128486206del | CA1400719446 | GATA2 | c.402_410del (p.Gly135_Pro137del) c.684_692del (p.Gly229_Pro231del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486189G>A | CA83372042 | GATA2 | c.409C>T (p.Pro137Ser) c.691C>T (p.Pro231Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486189G>C | CA354406870 | GATA2 | c.409C>G (p.Pro137Ala) c.691C>G (p.Pro231Ala) | |
| 3 | g.128486189G= | CA1400719448 | GATA2 | c.409C= (p.Pro137=) c.691C= (p.Pro231=) | |
| 3 | g.128486189G>T | CA354406872 | GATA2 | c.409C>A (p.Pro137Thr) c.691C>A (p.Pro231Thr) | |
| 3 | g.128486189_128486193delinsTAC | CA915941570 | GATA2 | c.405_409delinsGTA (p.Gly136TyrfsTer?) c.687_691delinsGTA (p.Gly230TyrfsTer?) | ClinVar dbSNP |
| 3 | g.128486190G>A | CA435763952 | GATA2 | c.408C>T (p.Gly136=) c.690C>T (p.Gly230=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486190G>C | CA435763953 | GATA2 | c.408C>G (p.Gly136=) c.690C>G (p.Gly230=) | |
| 3 | g.128486190G= | CA1400719449 | GATA2 | c.408C= (p.Gly136=) c.690C= (p.Gly230=) | |
| 3 | g.128486190G>T | CA435763954 | GATA2 | c.408C>A (p.Gly136=) c.690C>A (p.Gly230=) | gnomAD v4 |
| 3 | g.128486191C>A | CA354406882 | GATA2 | c.407G>T (p.Gly136Val) c.689G>T (p.Gly230Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486191C= | CA1400719450 | GATA2 | c.407G= (p.Gly136=) c.689G= (p.Gly230=) | |
| 3 | g.128486191C>G | CA354406885 | GATA2 | c.407G>C (p.Gly136Ala) c.689G>C (p.Gly230Ala) | |
| 3 | g.128486191C>T | CA354406883 | GATA2 | c.407G>A (p.Gly136Asp) c.689G>A (p.Gly230Asp) | |
| 3 | g.128486192C>A | CA2600035 | GATA2 | c.406G>T (p.Gly136Cys) c.688G>T (p.Gly230Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486192C= | CA1400719451 | GATA2 | c.406G= (p.Gly136=) c.688G= (p.Gly230=) | |
| 3 | g.128486192C>G | CA354406892 | GATA2 | c.406G>C (p.Gly136Arg) c.688G>C (p.Gly230Arg) | |
| 3 | g.128486192C>T | CA354406891 | GATA2 | c.406G>A (p.Gly136Ser) c.688G>A (p.Gly230Ser) | gnomAD v4 |
| 3 | g.128486193T>A | CA435763957 | GATA2 | c.405A>T (p.Gly135=) c.687A>T (p.Gly229=) | |
| 3 | g.128486193T>C | CA435763958 | GATA2 | c.405A>G (p.Gly135=) c.687A>G (p.Gly229=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486193T>G | CA435763959 | GATA2 | c.405A>C (p.Gly135=) c.687A>C (p.Gly229=) | ClinVar |
| 3 | g.128486193T= | CA1400719452 | GATA2 | c.405A= (p.Gly135=) c.687A= (p.Gly229=) | |
| 3 | g.128486194C>A | CA354406893 | GATA2 | c.404G>T (p.Gly135Val) c.686G>T (p.Gly229Val) | |
| 3 | g.128486194C>G | CA354406896 | GATA2 | c.404G>C (p.Gly135Ala) c.686G>C (p.Gly229Ala) | |
| 3 | g.128486194C>T | CA354406895 | GATA2 | c.404G>A (p.Gly135Glu) c.686G>A (p.Gly229Glu) | gnomAD v4 |
| 3 | g.128486195dup | CA1139532783 | GATA2 | c.404dup (p.Gly136ArgfsTer?) c.686dup (p.Gly230ArgfsTer?) | ClinVar dbSNP |
| 3 | g.128486195del | CA2667541074 | GATA2 | c.404del (p.Gly135GlufsTer?) c.686del (p.Gly229GlufsTer?) | gnomAD v4 |
| 3 | g.128486195C>A | CA354406898 | GATA2 | c.403G>T (p.Gly135Ter) c.685G>T (p.Gly229Ter) | |
| 3 | g.128486195C= | CA1400719453 | GATA2 | c.403G= (p.Gly135=) c.685G= (p.Gly229=) | |
| 3 | g.128486195C>G | CA354406901 | GATA2 | c.403G>C (p.Gly135Arg) c.685G>C (p.Gly229Arg) | |
| 3 | g.128486195C>T | CA354406904 | GATA2 | c.403G>A (p.Gly135Arg) c.685G>A (p.Gly229Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486196A= | CA1400719454 | GATA2 | c.402T= (p.Pro134=) c.684T= (p.Pro228=) | |
| 3 | g.128486196A>C | CA435763963 | GATA2 | c.402T>G (p.Pro134=) c.684T>G (p.Pro228=) | |
| 3 | g.128486196A>G | CA435763964 | GATA2 | c.402T>C (p.Pro134=) c.684T>C (p.Pro228=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486196A>T | CA435763965 | GATA2 | c.402T>A (p.Pro134=) c.684T>A (p.Pro228=) | |
| 3 | g.128486197G>A | CA354406907 | GATA2 | c.401C>T (p.Pro134Leu) c.683C>T (p.Pro228Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128486197G>C | CA354406909 | GATA2 | c.401C>G (p.Pro134Arg) c.683C>G (p.Pro228Arg) | |
| 3 | g.128486197G= | CA1400719455 | GATA2 | c.401C= (p.Pro134=) c.683C= (p.Pro228=) | |
| 3 | g.128486197G>T | CA354406911 | GATA2 | c.401C>A (p.Pro134His) c.683C>A (p.Pro228His) | |
| 3 | g.128486198G>A | CA354406914 | GATA2 | c.400C>T (p.Pro134Ser) c.682C>T (p.Pro228Ser) | dbSNP |
| 3 | g.128486198G>C | CA354406916 | GATA2 | c.400C>G (p.Pro134Ala) c.682C>G (p.Pro228Ala) | |
| 3 | g.128486198G= | CA1400719456 | GATA2 | c.400C= (p.Pro134=) c.682C= (p.Pro228=) | |
| 3 | g.128486198G>T | CA354406919 | GATA2 | c.400C>A (p.Pro134Thr) c.682C>A (p.Pro228Thr) | ClinVar dbSNP |
| 3 | g.128486199G>A | CA435763969 | GATA2 | c.399C>T (p.Gly133=) c.681C>T (p.Gly227=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486199G>C | CA435763970 | GATA2 | c.399C>G (p.Gly133=) c.681C>G (p.Gly227=) | |
| 3 | g.128486199G= | CA1400719457 | GATA2 | c.399C= (p.Gly133=) c.681C= (p.Gly227=) | |
| 3 | g.128486199G>T | CA435763971 | GATA2 | c.399C>A (p.Gly133=) c.681C>A (p.Gly227=) | |
| 3 | g.128486200C>A | CA354406922 | GATA2 | c.398G>T (p.Gly133Val) c.680G>T (p.Gly227Val) | ClinVar dbSNP |
| 3 | g.128486200C= | CA1400719458 | GATA2 | c.398G= (p.Gly133=) c.680G= (p.Gly227=) | |
| 3 | g.128486200C>G | CA354406925 | GATA2 | c.398G>C (p.Gly133Ala) c.680G>C (p.Gly227Ala) | |
| 3 | g.128486200C>T | CA354406926 | GATA2 | c.398G>A (p.Gly133Asp) c.680G>A (p.Gly227Asp) | |
| 3 | g.128486201C>A | CA354406929 | GATA2 | c.397G>T (p.Gly133Cys) c.679G>T (p.Gly227Cys) | |
| 3 | g.128486201C= | CA1400719459 | GATA2 | c.397G= (p.Gly133=) c.679G= (p.Gly227=) | |
| 3 | g.128486201C>G | CA354406933 | GATA2 | c.397G>C (p.Gly133Arg) c.679G>C (p.Gly227Arg) | ClinVar |
| 3 | g.128486201C>T | CA354406932 | GATA2 | c.397G>A (p.Gly133Ser) c.679G>A (p.Gly227Ser) | ClinVar dbSNP gnomAD v2 |
| 3 | g.128486202T>A | CA435763973 | GATA2 | c.396A>T (p.Gly132=) c.678A>T (p.Gly226=) | |
| 3 | g.128486202T>C | CA435763974 | GATA2 | c.396A>G (p.Gly132=) c.678A>G (p.Gly226=) | |
| 3 | g.128486202T>G | CA435763975 | GATA2 | c.396A>C (p.Gly132=) c.678A>C (p.Gly226=) | |
| 3 | g.128486203C>A | CA354406936 | GATA2 | c.395G>T (p.Gly132Val) c.677G>T (p.Gly226Val) | |
| 3 | g.128486203C>G | CA354406937 | GATA2 | c.395G>C (p.Gly132Ala) c.677G>C (p.Gly226Ala) | |
| 3 | g.128486203C>T | CA354406940 | GATA2 | c.395G>A (p.Gly132Glu) c.677G>A (p.Gly226Glu) | |
| 3 | g.128486204C>A | CA354406943 | GATA2 | c.394G>T (p.Gly132Ter) c.676G>T (p.Gly226Ter) | |
| 3 | g.128486204C>G | CA354406946 | GATA2 | c.394G>C (p.Gly132Arg) c.676G>C (p.Gly226Arg) | |
| 3 | g.128486204C>T | CA354406947 | GATA2 | c.394G>A (p.Gly132Arg) c.676G>A (p.Gly226Arg) | gnomAD v4 |
| 3 | g.128486205A>C | CA435763978 | GATA2 | c.393T>G (p.Ala131=) c.675T>G (p.Ala225=) | |
| 3 | g.128486205A>G | CA435763979 | GATA2 | c.393T>C (p.Ala131=) c.675T>C (p.Ala225=) | |
| 3 | g.128486205A>T | CA435763980 | GATA2 | c.393T>A (p.Ala131=) c.675T>A (p.Ala225=) | |
| 3 | g.128486206G>A | CA354406950 | GATA2 | c.392C>T (p.Ala131Val) c.674C>T (p.Ala225Val) | |
| 3 | g.128486206G>C | CA354406953 | GATA2 | c.392C>G (p.Ala131Gly) c.674C>G (p.Ala225Gly) | |
| 3 | g.128486206G>T | CA354406956 | GATA2 | c.392C>A (p.Ala131Asp) c.674C>A (p.Ala225Asp) | |
| 3 | g.128486207C>A | CA354406965 | GATA2 | c.391G>T (p.Ala131Ser) c.673G>T (p.Ala225Ser) | |
| 3 | g.128486207C>G | CA354406962 | GATA2 | c.391G>C (p.Ala131Pro) c.673G>C (p.Ala225Pro) | |
| 3 | g.128486207C>T | CA354406960 | GATA2 | c.391G>A (p.Ala131Thr) c.673G>A (p.Ala225Thr) | ClinVar gnomAD v4 |
| 3 | g.128486208A>C | CA435763984 | GATA2 | c.390T>G (p.Ala130=) c.672T>G (p.Ala224=) | |
| 3 | g.128486208A>G | CA435763985 | GATA2 | c.390T>C (p.Ala130=) c.672T>C (p.Ala224=) | |
| 3 | g.128486208A>T | CA435763986 | GATA2 | c.390T>A (p.Ala130=) c.672T>A (p.Ala224=) | |
| 3 | g.128486209G>A | CA2600036 | GATA2 | c.389C>T (p.Ala130Val) c.671C>T (p.Ala224Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486209G>C | CA354406968 | GATA2 | c.389C>G (p.Ala130Gly) c.671C>G (p.Ala224Gly) | |
| 3 | g.128486209G= | CA1400719460 | GATA2 | c.389C= (p.Ala130=) c.671C= (p.Ala224=) | |
| 3 | g.128486209G>T | CA354406971 | GATA2 | c.389C>A (p.Ala130Asp) c.671C>A (p.Ala224Asp) | |
| 3 | g.128486210C>A | CA354406973 | GATA2 | c.388G>T (p.Ala130Ser) c.670G>T (p.Ala224Ser) | |
| 3 | g.128486210C= | CA1400719461 | GATA2 | c.388G= (p.Ala130=) c.670G= (p.Ala224=) | |
| 3 | g.128486210C>G | CA354406975 | GATA2 | c.388G>C (p.Ala130Pro) c.670G>C (p.Ala224Pro) | dbSNP |
| 3 | g.128486210C>T | CA354406977 | GATA2 | c.388G>A (p.Ala130Thr) c.670G>A (p.Ala224Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486211T>A | CA435763987 | GATA2 | c.387A>T (p.Ser129=) c.669A>T (p.Ser223=) | |
| 3 | g.128486211T>C | CA435763988 | GATA2 | c.387A>G (p.Ser129=) c.669A>G (p.Ser223=) | |
| 3 | g.128486211T>G | CA435763989 | GATA2 | c.387A>C (p.Ser129=) c.669A>C (p.Ser223=) | |
| 3 | g.128486212del | CA435763993 | GATA2 | c.386del (p.Ser129Ter) c.668del (p.Ser223Ter) | COSMIC |
| 3 | g.128486212G>A | CA354406979 | GATA2 | c.386C>T (p.Ser129Leu) c.668C>T (p.Ser223Leu) | |
| 3 | g.128486212G>C | CA354406981 | GATA2 | c.386C>G (p.Ser129Ter) c.668C>G (p.Ser223Ter) | |
| 3 | g.128486212G>T | CA354406984 | GATA2 | c.386C>A (p.Ser129Ter) c.668C>A (p.Ser223Ter) | gnomAD v4 |
| 3 | g.128486213A>C | CA354406986 | GATA2 | c.385T>G (p.Ser129Ala) c.667T>G (p.Ser223Ala) | |
| 3 | g.128486213A>G | CA354406990 | GATA2 | c.385T>C (p.Ser129Pro) c.667T>C (p.Ser223Pro) | |
| 3 | g.128486213A>T | CA354406992 | GATA2 | c.385T>A (p.Ser129Thr) c.667T>A (p.Ser223Thr) | |
| 3 | g.128486214G>A | CA435763994 | GATA2 | c.384C>T (p.Pro128=) c.666C>T (p.Pro222=) | gnomAD v4 |
| 3 | g.128486214G>C | CA435763995 | GATA2 | c.384C>G (p.Pro128=) c.666C>G (p.Pro222=) | ClinVar dbSNP |
| 3 | g.128486214G= | CA1400719462 | GATA2 | c.384C= (p.Pro128=) c.666C= (p.Pro222=) | |
| 3 | g.128486214G>T | CA435763996 | GATA2 | c.384C>A (p.Pro128=) c.666C>A (p.Pro222=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486217dup | CA2580068753 | GATA2 | c.384dup (p.Ser129LeufsTer?) c.666dup (p.Ser223LeufsTer?) | ClinVar |
| 3 | g.128486215G>A | CA354407000 | GATA2 | c.383C>T (p.Pro128Leu) c.665C>T (p.Pro222Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486215G>C | CA354406996 | GATA2 | c.383C>G (p.Pro128Arg) c.665C>G (p.Pro222Arg) | |
| 3 | g.128486215G= | CA1400719463 | GATA2 | c.383C= (p.Pro128=) c.665C= (p.Pro222=) | |
| 3 | g.128486215G>T | CA354406999 | GATA2 | c.383C>A (p.Pro128His) c.665C>A (p.Pro222His) | dbSNP gnomAD v4 |
| 3 | g.128486216G>A | CA354407003 | GATA2 | c.382C>T (p.Pro128Ser) c.664C>T (p.Pro222Ser) | |
| 3 | g.128486216G>C | CA354407005 | GATA2 | c.382C>G (p.Pro128Ala) c.664C>G (p.Pro222Ala) | |
| 3 | g.128486216G>T | CA354407009 | GATA2 | c.382C>A (p.Pro128Thr) c.664C>A (p.Pro222Thr) | |
| 3 | g.128486217G>A | CA435764000 | GATA2 | c.381C>T (p.His127=) c.663C>T (p.His221=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486217G>C | CA354407011 | GATA2 | c.381C>G (p.His127Gln) c.663C>G (p.His221Gln) | gnomAD v4 |
| 3 | g.128486217G= | CA1400719464 | GATA2 | c.381C= (p.His127=) c.663C= (p.His221=) | |
| 3 | g.128486217G>T | CA354407013 | GATA2 | c.381C>A (p.His127Gln) c.663C>A (p.His221Gln) | |
| 3 | g.128486218T>A | CA354407015 | GATA2 | c.380A>T (p.His127Leu) c.662A>T (p.His221Leu) | |
| 3 | g.128486218T>C | CA354407018 | GATA2 | c.380A>G (p.His127Arg) c.662A>G (p.His221Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486218T>G | CA354407021 | GATA2 | c.380A>C (p.His127Pro) c.662A>C (p.His221Pro) | |
| 3 | g.128486218T= | CA1400719465 | GATA2 | c.380A= (p.His127=) c.662A= (p.His221=) | |
| 3 | g.128486219G>A | CA354407024 | GATA2 | c.379C>T (p.His127Tyr) c.661C>T (p.His221Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486219G>C | CA354407027 | GATA2 | c.379C>G (p.His127Asp) c.661C>G (p.His221Asp) | |
| 3 | g.128486219G= | CA1400719466 | GATA2 | c.379C= (p.His127=) c.661C= (p.His221=) | |
| 3 | g.128486219G>T | CA354407029 | GATA2 | c.379C>A (p.His127Asn) c.661C>A (p.His221Asn) | ClinVar dbSNP |
| 3 | g.128486220C>A | CA435764005 | GATA2 | c.378G>T (p.Leu126=) c.660G>T (p.Leu220=) | |
| 3 | g.128486220C>G | CA435764006 | GATA2 | c.378G>C (p.Leu126=) c.660G>C (p.Leu220=) | |
| 3 | g.128486220C>T | CA435764008 | GATA2 | c.378G>A (p.Leu126=) c.660G>A (p.Leu220=) | gnomAD v4 |
| 3 | g.128486221A>C | CA354407035 | GATA2 | c.377T>G (p.Leu126Arg) c.659T>G (p.Leu220Arg) | ClinVar dbSNP |
| 3 | g.128486221A>G | CA354407037 | GATA2 | c.377T>C (p.Leu126Pro) c.659T>C (p.Leu220Pro) | |
| 3 | g.128486221A>T | CA354407032 | GATA2 | c.377T>A (p.Leu126Gln) c.659T>A (p.Leu220Gln) | ClinVar gnomAD v4 |
| 3 | g.128486222G>A | CA435764011 | GATA2 | c.376C>T (p.Leu126=) c.658C>T (p.Leu220=) | |
| 3 | g.128486222G>C | CA354407041 | GATA2 | c.376C>G (p.Leu126Val) c.658C>G (p.Leu220Val) | |
| 3 | g.128486222G>T | CA354407039 | GATA2 | c.376C>A (p.Leu126Met) c.658C>A (p.Leu220Met) | gnomAD v4 |
| 3 | g.128486223T>A | CA435764012 | GATA2 | c.375A>T (p.Pro125=) c.657A>T (p.Pro219=) | |
| 3 | g.128486223T>C | CA435764014 | GATA2 | c.375A>G (p.Pro125=) c.657A>G (p.Pro219=) | dbSNP |
| 3 | g.128486223T>G | CA2600037 | GATA2 | c.375A>C (p.Pro125=) c.657A>C (p.Pro219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128486223T= | CA1400719467 | GATA2 | c.375A= (p.Pro125=) c.657A= (p.Pro219=) | |
| 3 | g.128486224G>A | CA354407046 | GATA2 | c.374C>T (p.Pro125Leu) c.656C>T (p.Pro219Leu) | |
| 3 | g.128486224G>C | CA354407049 | GATA2 | c.374C>G (p.Pro125Arg) c.656C>G (p.Pro219Arg) | |
| 3 | g.128486224G>T | CA354407050 | GATA2 | c.374C>A (p.Pro125Gln) c.656C>A (p.Pro219Gln) | |
| 3 | g.128486225G>A | CA354407053 | GATA2 | c.373C>T (p.Pro125Ser) c.655C>T (p.Pro219Ser) | |
| 3 | g.128486225G>C | CA354407056 | GATA2 | c.373C>G (p.Pro125Ala) c.655C>G (p.Pro219Ala) | |
| 3 | g.128486225G>T | CA354407058 | GATA2 | c.373C>A (p.Pro125Thr) c.655C>A (p.Pro219Thr) | gnomAD v4 COSMIC |
| 3 | g.128486226C>A | CA435764017 | GATA2 | c.372G>T (p.Thr124=) c.654G>T (p.Thr218=) | gnomAD v4 |
| 3 | g.128486226C= | CA1400719468 | GATA2 | c.372G= (p.Thr124=) c.654G= (p.Thr218=) | |
| 3 | g.128486226C>G | CA435764019 | GATA2 | c.372G>C (p.Thr124=) c.654G>C (p.Thr218=) | ClinVar dbSNP |
| 3 | g.128486226C>T | CA435764021 | GATA2 | c.372G>A (p.Thr124=) c.654G>A (p.Thr218=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486227G>A | CA354407061 | GATA2 | c.371C>T (p.Thr124Met) c.653C>T (p.Thr218Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128486227G>C | CA354407064 | GATA2 | c.371C>G (p.Thr124Arg) c.653C>G (p.Thr218Arg) | gnomAD v4 |
| 3 | g.128486227G= | CA1400719469 | GATA2 | c.371C= (p.Thr124=) c.653C= (p.Thr218=) | |
| 3 | g.128486227G>T | CA159889 | GATA2 | c.371C>A (p.Thr124Lys) c.653C>A (p.Thr218Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486228T>A | CA354407068 | GATA2 | c.370A>T (p.Thr124Ser) c.652A>T (p.Thr218Ser) | |
| 3 | g.128486228T>C | CA354407069 | GATA2 | c.370A>G (p.Thr124Ala) c.652A>G (p.Thr218Ala) | gnomAD v4 |
| 3 | g.128486228T>G | CA354407072 | GATA2 | c.370A>C (p.Thr124Pro) c.652A>C (p.Thr218Pro) | |
| 3 | g.128486229C>A | CA354407074 | GATA2 | c.369G>T (p.Lys123Asn) c.651G>T (p.Lys217Asn) | COSMIC |
| 3 | g.128486229C>G | CA354407076 | GATA2 | c.369G>C (p.Lys123Asn) c.651G>C (p.Lys217Asn) | dbSNP |
| 3 | g.128486229C>T | CA435764025 | GATA2 | c.369G>A (p.Lys123=) c.651G>A (p.Lys217=) | ClinVar |
| 3 | g.128486230T>A | CA354407078 | GATA2 | c.368A>T (p.Lys123Met) c.650A>T (p.Lys217Met) | |
| 3 | g.128486230T>C | CA354407081 | GATA2 | c.368A>G (p.Lys123Arg) c.650A>G (p.Lys217Arg) | ClinVar dbSNP |
| 3 | g.128486230T>G | CA354407084 | GATA2 | c.368A>C (p.Lys123Thr) c.650A>C (p.Lys217Thr) | |
| 3 | g.128486231del | CA2667541075 | GATA2 | c.368del (p.Lys123ArgfsTer?) c.650del (p.Lys217ArgfsTer?) | gnomAD v4 |
| 3 | g.128486231T>A | CA354407086 | GATA2 | c.367A>T (p.Lys123Ter) c.649A>T (p.Lys217Ter) | |
| 3 | g.128486231T>C | CA354407089 | GATA2 | c.367A>G (p.Lys123Glu) c.649A>G (p.Lys217Glu) | |
| 3 | g.128486231T>G | CA354407091 | GATA2 | c.367A>C (p.Lys123Gln) c.649A>C (p.Lys217Gln) | |
| 3 | g.128486232G>A | CA435764028 | GATA2 | c.366C>T (p.Ser122=) c.648C>T (p.Ser216=) | |
| 3 | g.128486232G>C | CA435764030 | GATA2 | c.366C>G (p.Ser122=) c.648C>G (p.Ser216=) | |
| 3 | g.128486232G>T | CA435764032 | GATA2 | c.366C>A (p.Ser122=) c.648C>A (p.Ser216=) | gnomAD v4 |
| 3 | g.128486233G>A | CA354407094 | GATA2 | c.365C>T (p.Ser122Phe) c.647C>T (p.Ser216Phe) | |
| 3 | g.128486233G>C | CA354407096 | GATA2 | c.365C>G (p.Ser122Cys) c.647C>G (p.Ser216Cys) | ClinVar dbSNP |
| 3 | g.128486233G= | CA1400719470 | GATA2 | c.365C= (p.Ser122=) c.647C= (p.Ser216=) | |
| 3 | g.128486233G>T | CA354407098 | GATA2 | c.365C>A (p.Ser122Tyr) c.647C>A (p.Ser216Tyr) | |
| 3 | g.128486234A>C | CA354407101 | GATA2 | c.364T>G (p.Ser122Ala) c.646T>G (p.Ser216Ala) | |
| 3 | g.128486234A>G | CA354407103 | GATA2 | c.364T>C (p.Ser122Pro) c.646T>C (p.Ser216Pro) | |
| 3 | g.128486234A>T | CA354407105 | GATA2 | c.364T>A (p.Ser122Thr) c.646T>A (p.Ser216Thr) | |
| 3 | g.128486235G>A | CA435764033 | GATA2 | c.363C>T (p.Phe121=) c.645C>T (p.Phe215=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.128486235G>C | CA354407107 | GATA2 | c.363C>G (p.Phe121Leu) c.645C>G (p.Phe215Leu) | gnomAD v4 |
| 3 | g.128486235G= | CA1400719471 | GATA2 | c.363C= (p.Phe121=) c.645C= (p.Phe215=) | |
| 3 | g.128486235G>T | CA354407110 | GATA2 | c.363C>A (p.Phe121Leu) c.645C>A (p.Phe215Leu) | |
| 3 | g.128486236A>C | CA354407113 | GATA2 | c.362T>G (p.Phe121Cys) c.644T>G (p.Phe215Cys) | |
| 3 | g.128486236A>G | CA354407115 | GATA2 | c.362T>C (p.Phe121Ser) c.644T>C (p.Phe215Ser) | |
| 3 | g.128486236A>T | CA354407117 | GATA2 | c.362T>A (p.Phe121Tyr) c.644T>A (p.Phe215Tyr) | |
| 3 | g.128486237A>C | CA354407121 | GATA2 | c.361T>G (p.Phe121Val) c.643T>G (p.Phe215Val) | |
| 3 | g.128486237A>G | CA354407122 | GATA2 | c.361T>C (p.Phe121Leu) c.643T>C (p.Phe215Leu) | |
| 3 | g.128486237A>T | CA354407128 | GATA2 | c.361T>A (p.Phe121Ile) c.643T>A (p.Phe215Ile) | |
| 3 | g.128486238G>A | CA435764035 | GATA2 | c.360C>T (p.Pro120=) c.642C>T (p.Pro214=) | |
| 3 | g.128486238G>C | CA435764037 | GATA2 | c.360C>G (p.Pro120=) c.642C>G (p.Pro214=) | |
| 3 | g.128486238G>T | CA435764039 | GATA2 | c.360C>A (p.Pro120=) c.642C>A (p.Pro214=) | ClinVar dbSNP |
| 3 | g.128486239G>A | CA354407135 | GATA2 | c.359C>T (p.Pro120Leu) c.641C>T (p.Pro214Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486239G>C | CA354407130 | GATA2 | c.359C>G (p.Pro120Arg) c.641C>G (p.Pro214Arg) | |
| 3 | g.128486239G= | CA1400719472 | GATA2 | c.359C= (p.Pro120=) c.641C= (p.Pro214=) | |
| 3 | g.128486239G>T | CA354407133 | GATA2 | c.359C>A (p.Pro120His) c.641C>A (p.Pro214His) | |
| 3 | g.128486240G>A | CA2600038 | GATA2 | c.358C>T (p.Pro120Ser) c.640C>T (p.Pro214Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486240G>C | CA354407140 | GATA2 | c.358C>G (p.Pro120Ala) c.640C>G (p.Pro214Ala) | gnomAD v4 |
| 3 | g.128486240G= | CA1400719473 | GATA2 | c.358C= (p.Pro120=) c.640C= (p.Pro214=) | |
| 3 | g.128486240G>T | CA354407142 | GATA2 | c.358C>A (p.Pro120Thr) c.640C>A (p.Pro214Thr) | |
| 3 | g.128486241G>A | CA435764041 | GATA2 | c.357C>T (p.Ser119=) c.639C>T (p.Ser213=) | gnomAD v4 |
| 3 | g.128486241G>C | CA354407144 | GATA2 | c.357C>G (p.Ser119Arg) c.639C>G (p.Ser213Arg) | |
| 3 | g.128486241G>T | CA354407147 | GATA2 | c.357C>A (p.Ser119Arg) c.639C>A (p.Ser213Arg) | |
| 3 | g.128486242C>A | CA354407149 | GATA2 | c.356G>T (p.Ser119Ile) c.638G>T (p.Ser213Ile) | |
| 3 | g.128486242C>G | CA354407152 | GATA2 | c.356G>C (p.Ser119Thr) c.638G>C (p.Ser213Thr) | |
| 3 | g.128486242C>T | CA354407151 | GATA2 | c.356G>A (p.Ser119Asn) c.638G>A (p.Ser213Asn) | |
| 3 | g.128486243T>A | CA354407155 | GATA2 | c.355A>T (p.Ser119Cys) c.637A>T (p.Ser213Cys) | |
| 3 | g.128486243T>C | CA354407156 | GATA2 | c.355A>G (p.Ser119Gly) c.637A>G (p.Ser213Gly) | gnomAD v4 |
| 3 | g.128486243T>G | CA354407158 | GATA2 | c.355A>C (p.Ser119Arg) c.637A>C (p.Ser213Arg) | |
| 3 | g.128486244C>A | CA435764043 | GATA2 | c.354G>T (p.Val118=) c.636G>T (p.Val212=) | |
| 3 | g.128486244C>G | CA435764045 | GATA2 | c.354G>C (p.Val118=) c.636G>C (p.Val212=) | |
| 3 | g.128486244C>T | CA435764046 | GATA2 | c.354G>A (p.Val118=) c.636G>A (p.Val212=) | gnomAD v4 |
| 3 | g.128486244dup | CA2586972846 | GATA2 | c.354dup (p.Ser119GlufsTer?) c.636dup (p.Ser213GlufsTer?) | |
| 3 | g.128486245del | CA1139768477 | GATA2 | c.353del (p.Val118GlyfsTer?) c.635del (p.Val212GlyfsTer?) | ClinVar dbSNP |
| 3 | g.128486245A= | CA1400719474 | GATA2 | c.353T= (p.Val118=) c.635T= (p.Val212=) | |
| 3 | g.128486245A>C | CA354407161 | GATA2 | c.353T>G (p.Val118Gly) c.635T>G (p.Val212Gly) | gnomAD v4 |
| 3 | g.128486245A>G | CA354407163 | GATA2 | c.353T>C (p.Val118Ala) c.635T>C (p.Val212Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486245A>T | CA354407165 | GATA2 | c.353T>A (p.Val118Glu) c.635T>A (p.Val212Glu) | |
| 3 | g.128486246C>A | CA354407169 | GATA2 | c.352G>T (p.Val118Leu) c.634G>T (p.Val212Leu) | |
| 3 | g.128486246C= | CA1400719475 | GATA2 | c.352G= (p.Val118=) c.634G= (p.Val212=) | |
| 3 | g.128486246C>G | CA354407171 | GATA2 | c.352G>C (p.Val118Leu) c.634G>C (p.Val212Leu) | gnomAD v4 |
| 3 | g.128486246C>T | CA354407174 | GATA2 | c.352G>A (p.Val118Met) c.634G>A (p.Val212Met) | dbSNP gnomAD v4 |
| 3 | g.128486247G>A | CA435764047 | GATA2 | c.351C>T (p.Thr117=) c.633C>T (p.Thr211=) | gnomAD v4 |
| 3 | g.128486247G>C | CA435764049 | GATA2 | c.351C>G (p.Thr117=) c.633C>G (p.Thr211=) | ClinVar dbSNP |
| 3 | g.128486247G>T | CA435764050 | GATA2 | c.351C>A (p.Thr117=) c.633C>A (p.Thr211=) | gnomAD v4 |
| 3 | g.128486249_128486254del | CA2573052072 | GATA2 | c.346_351del (p.Trp116_Thr117del) c.628_633del (p.Trp210_Thr211del) | ClinVar dbSNP |
| 3 | g.128486248G>A | CA354407176 | GATA2 | c.350C>T (p.Thr117Ile) c.632C>T (p.Thr211Ile) | |
| 3 | g.128486248G>C | CA354407179 | GATA2 | c.350C>G (p.Thr117Ser) c.632C>G (p.Thr211Ser) | |
| 3 | g.128486248G>T | CA354407181 | GATA2 | c.350C>A (p.Thr117Asn) c.632C>A (p.Thr211Asn) | |
| 3 | g.128486249T>A | CA354407189 | GATA2 | c.349A>T (p.Thr117Ser) c.631A>T (p.Thr211Ser) | |
| 3 | g.128486249T>C | CA354407187 | GATA2 | c.349A>G (p.Thr117Ala) c.631A>G (p.Thr211Ala) | |
| 3 | g.128486249T>G | CA354407184 | GATA2 | c.349A>C (p.Thr117Pro) c.631A>C (p.Thr211Pro) | |
| 3 | g.128486250C>A | CA354407194 | GATA2 | c.348G>T (p.Trp116Cys) c.630G>T (p.Trp210Cys) | |
| 3 | g.128486250C>G | CA354407191 | GATA2 | c.348G>C (p.Trp116Cys) c.630G>C (p.Trp210Cys) | |
| 3 | g.128486250C>T | CA354407195 | GATA2 | c.348G>A (p.Trp116Ter) c.630G>A (p.Trp210Ter) | |
| 3 | g.128486251C>A | CA354407199 | GATA2 | c.347G>T (p.Trp116Leu) c.629G>T (p.Trp210Leu) | |
| 3 | g.128486251C>G | CA354407203 | GATA2 | c.347G>C (p.Trp116Ser) c.629G>C (p.Trp210Ser) | |
| 3 | g.128486251C>T | CA354407201 | GATA2 | c.347G>A (p.Trp116Ter) c.629G>A (p.Trp210Ter) | |
| 3 | g.128486252A= | CA1400719476 | GATA2 | c.346T= (p.Trp116=) c.628T= (p.Trp210=) | |
| 3 | g.128486252A>C | CA354407206 | GATA2 | c.346T>G (p.Trp116Gly) c.628T>G (p.Trp210Gly) | |
| 3 | g.128486252A>G | CA354407209 | GATA2 | c.346T>C (p.Trp116Arg) c.628T>C (p.Trp210Arg) | |
| 3 | g.128486252A>T | CA354407211 | GATA2 | c.346T>A (p.Trp116Arg) c.628T>A (p.Trp210Arg) | |
| 3 | g.128486253G>A | CA435764053 | GATA2 | c.345C>T (p.Pro115=) c.627C>T (p.Pro209=) | |
| 3 | g.128486253G>C | CA435764054 | GATA2 | c.345C>G (p.Pro115=) c.627C>G (p.Pro209=) | |
| 3 | g.128486253G>T | CA435764055 | GATA2 | c.345C>A (p.Pro115=) c.627C>A (p.Pro209=) | gnomAD v4 |
| 3 | g.128486256dup | CA658796375 | GATA2 | c.345dup (p.Trp116LeufsTer?) c.627dup (p.Trp210LeufsTer?) | ClinVar dbSNP |
| 3 | g.128486254_128486259dup | CA2667541076 | GATA2 | c.340_345dup (p.Pro115_Trp116insAsnPro) c.622_627dup (p.Pro209_Trp210insAsnPro) | gnomAD v4 |
| 3 | g.128486254G>A | CA354407215 | GATA2 | c.344C>T (p.Pro115Leu) c.626C>T (p.Pro209Leu) | dbSNP gnomAD v2 |
| 3 | g.128486254G>C | CA354407216 | GATA2 | c.344C>G (p.Pro115Arg) c.626C>G (p.Pro209Arg) | |
| 3 | g.128486254G= | CA1400719477 | GATA2 | c.344C= (p.Pro115=) c.626C= (p.Pro209=) | |
| 3 | g.128486254G>T | CA354407218 | GATA2 | c.344C>A (p.Pro115His) c.626C>A (p.Pro209His) | |
| 3 | g.128486255G>A | CA354407223 | GATA2 | c.343C>T (p.Pro115Ser) c.625C>T (p.Pro209Ser) | |
| 3 | g.128486255G>C | CA354407225 | GATA2 | c.343C>G (p.Pro115Ala) c.625C>G (p.Pro209Ala) | |
| 3 | g.128486255G>T | CA354407227 | GATA2 | c.343C>A (p.Pro115Thr) c.625C>A (p.Pro209Thr) | gnomAD v4 |
| 3 | g.128486256G>A | CA435764057 | GATA2 | c.342C>T (p.Asn114=) c.624C>T (p.Asn208=) | ClinVar dbSNP |
| 3 | g.128486256G>C | CA354407230 | GATA2 | c.342C>G (p.Asn114Lys) c.624C>G (p.Asn208Lys) | |
| 3 | g.128486256G= | CA1400719478 | GATA2 | c.342C= (p.Asn114=) c.624C= (p.Asn208=) | |
| 3 | g.128486256G>T | CA354407231 | GATA2 | c.342C>A (p.Asn114Lys) c.624C>A (p.Asn208Lys) | ClinVar |