| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.128486108C>T | CA159904 | GATA2 | c.490G>A (p.Ala164Thr) c.772G>A (p.Ala258Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128486108C>G | CA354406654 | GATA2 | c.490G>C (p.Ala164Pro) c.772G>C (p.Ala258Pro) | dbSNP |
| 3 | g.128486108C= | CA1400719397 | GATA2 | c.490G= (p.Ala164=) c.772G= (p.Ala258=) | dbSNP |