| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34880580C>G | CA410202511 | RUNX1 | c.485G>C (p.Arg162Thr) c.404G>C (p.Arg135Thr) c.449G>C (p.Arg150Thr) c.*75G>C (n.*75G>C) c.446G>C (p.Arg149Thr) n.664G>C c.332G>C (p.Arg111Thr) n.711G>C | ClinVar dbSNP |
| 21 | g.34880580C>T | CA16602490 | RUNX1 | c.485G>A (p.Arg162Lys) c.404G>A (p.Arg135Lys) c.449G>A (p.Arg150Lys) c.*75G>A (n.*75G>A) c.446G>A (p.Arg149Lys) n.664G>A c.332G>A (p.Arg111Lys) n.711G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |