| 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.128486354_128486355delinsCT | CA1400719532 | GATA2 | c.243_244delinsAG (p.Gly81=) c.525_526delinsAG (p.Gly175=) | |
| 3 | g.128486355T>A | CA435510381 | GATA2 | c.243A>T (p.Gly81=) c.525A>T (p.Gly175=) | |
| 3 | g.128486355T>C | CA435510382 | GATA2 | c.243A>G (p.Gly81=) c.525A>G (p.Gly175=) | gnomAD v4 |
| 3 | g.128486355T>G | CA435510383 | GATA2 | c.243A>C (p.Gly81=) c.525A>C (p.Gly175=) | |
| 3 | g.128486355delinsGC | CA358694 | GATA2 | c.243delinsGC (p.Gly82ArgfsTer?) c.525delinsGC (p.Gly176ArgfsTer?) | ClinVar dbSNP |
| 3 | g.128486356C>A | CA354407909 | GATA2 | c.242G>T (p.Gly81Val) c.524G>T (p.Gly175Val) | gnomAD v4 |
| 3 | g.128486356C= | CA1400719533 | GATA2 | c.242G= (p.Gly81=) c.524G= (p.Gly175=) | |
| 3 | g.128486356C>G | CA16611184 | GATA2 | c.242G>C (p.Gly81Ala) c.524G>C (p.Gly175Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486356C>T | CA354407906 | GATA2 | c.242G>A (p.Gly81Glu) c.524G>A (p.Gly175Glu) | gnomAD v4 |
| 3 | g.128486357C>A | CA354407918 | GATA2 | c.241G>T (p.Gly81Ter) c.523G>T (p.Gly175Ter) | gnomAD v4 |
| 3 | g.128486357C= | CA1400719534 | GATA2 | c.241G= (p.Gly81=) c.523G= (p.Gly175=) | |
| 3 | g.128486357C>G | CA354407915 | GATA2 | c.241G>C (p.Gly81Arg) c.523G>C (p.Gly175Arg) | dbSNP gnomAD v4 |
| 3 | g.128486357C>T | CA83372097 | GATA2 | c.241G>A (p.Gly81Arg) c.523G>A (p.Gly175Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486358G>A | CA83372100 | GATA2 | c.240C>T (p.Thr80=) c.522C>T (p.Thr174=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.128486358G>C | CA435510384 | GATA2 | c.240C>G (p.Thr80=) c.522C>G (p.Thr174=) | dbSNP |
| 3 | g.128486358G= | CA1400719535 | GATA2 | c.240C= (p.Thr80=) c.522C= (p.Thr174=) | |
| 3 | g.128486358G>T | CA435510385 | GATA2 | c.240C>A (p.Thr80=) c.522C>A (p.Thr174=) | gnomAD v4 |
| 3 | g.128486359dup | CA645523653 | GATA2 | c.240dup (p.Gly81ArgfsTer?) c.522dup (p.Gly175ArgfsTer?) | COSMIC |
| 3 | g.128486359G>A | CA354407925 | GATA2 | c.239C>T (p.Thr80Ile) c.521C>T (p.Thr174Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486359G>C | CA354407932 | GATA2 | c.239C>G (p.Thr80Ser) c.521C>G (p.Thr174Ser) | gnomAD v4 |
| 3 | g.128486359G= | CA1400719536 | GATA2 | c.239C= (p.Thr80=) c.521C= (p.Thr174=) | |
| 3 | g.128486359G>T | CA354407934 | GATA2 | c.239C>A (p.Thr80Asn) c.521C>A (p.Thr174Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.128486360T>A | CA354407939 | GATA2 | c.238A>T (p.Thr80Ser) c.520A>T (p.Thr174Ser) | |
| 3 | g.128486360T>C | CA354407940 | GATA2 | c.238A>G (p.Thr80Ala) c.520A>G (p.Thr174Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486360T>G | CA354407946 | GATA2 | c.238A>C (p.Thr80Pro) c.520A>C (p.Thr174Pro) | gnomAD v4 |
| 3 | g.128486360T= | CA1400719537 | GATA2 | c.238A= (p.Thr80=) c.520A= (p.Thr174=) | |
| 3 | g.128486361C>A | CA435510386 | GATA2 | c.237G>T (p.Leu79=) c.519G>T (p.Leu173=) | gnomAD v4 |
| 3 | g.128486361C>G | CA435510387 | GATA2 | c.237G>C (p.Leu79=) c.519G>C (p.Leu173=) | dbSNP |
| 3 | g.128486361C>T | CA435510388 | GATA2 | c.237G>A (p.Leu79=) c.519G>A (p.Leu173=) | gnomAD v4 COSMIC |
| 3 | g.128486362A>C | CA354407953 | GATA2 | c.236T>G (p.Leu79Arg) c.518T>G (p.Leu173Arg) | |
| 3 | g.128486362A>G | CA354407956 | GATA2 | c.236T>C (p.Leu79Pro) c.518T>C (p.Leu173Pro) | ClinVar gnomAD v4 |
| 3 | g.128486362A>T | CA354407958 | GATA2 | c.236T>A (p.Leu79Gln) c.518T>A (p.Leu173Gln) | gnomAD v4 |
| 3 | g.128486363G>A | CA435510389 | GATA2 | c.235C>T (p.Leu79=) c.517C>T (p.Leu173=) | |
| 3 | g.128486363G>C | CA354407960 | GATA2 | c.235C>G (p.Leu79Val) c.517C>G (p.Leu173Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486363G= | CA1400719538 | GATA2 | c.235C= (p.Leu79=) c.517C= (p.Leu173=) | |
| 3 | g.128486363G>T | CA354407967 | GATA2 | c.235C>A (p.Leu79Met) c.517C>A (p.Leu173Met) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486364G>A | CA435510390 | GATA2 | c.234C>T (p.Arg78=) c.516C>T (p.Arg172=) | gnomAD v4 |
| 3 | g.128486364G>C | CA435510391 | GATA2 | c.234C>G (p.Arg78=) c.516C>G (p.Arg172=) | |
| 3 | g.128486364G>T | CA435510392 | GATA2 | c.234C>A (p.Arg78=) c.516C>A (p.Arg172=) | gnomAD v4 |
| 3 | g.128486365C>A | CA354407978 | GATA2 | c.233G>T (p.Arg78Leu) c.515G>T (p.Arg172Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128486365C= | CA1400719539 | GATA2 | c.233G= (p.Arg78=) c.515G= (p.Arg172=) | |
| 3 | g.128486365C>G | CA354407972 | GATA2 | c.233G>C (p.Arg78Pro) c.515G>C (p.Arg172Pro) | |
| 3 | g.128486365C>T | CA83372109 | GATA2 | c.233G>A (p.Arg78His) c.515G>A (p.Arg172His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128486366G>A | CA354407986 | GATA2 | c.232C>T (p.Arg78Cys) c.514C>T (p.Arg172Cys) | gnomAD v4 |
| 3 | g.128486366G>C | CA354407988 | GATA2 | c.232C>G (p.Arg78Gly) c.514C>G (p.Arg172Gly) | |
| 3 | g.128486366G>T | CA354407989 | GATA2 | c.232C>A (p.Arg78Ser) c.514C>A (p.Arg172Ser) | ClinVar gnomAD v4 |
| 3 | g.128486368dup | CA658820608 | GATA2 | c.232dup (p.Arg78ProfsTer?) c.514dup (p.Arg172ProfsTer?) | ClinVar dbSNP |
| 3 | g.128486368del | CA2667541077 | GATA2 | c.232del (p.Arg78AlafsTer2) c.514del (p.Arg172AlafsTer2) | gnomAD v4 |