| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34880581T>A | CA410202512 | RUNX1 | c.484A>T (p.Arg162Trp) c.403A>T (p.Arg135Trp) c.448A>T (p.Arg150Trp) c.*74A>T (n.*74A>T) c.445A>T (p.Arg149Trp) n.663A>T c.331A>T (p.Arg111Trp) n.710A>T | dbSNP |
| 21 | g.34880581T>C | CA16602491 | RUNX1 | c.484A>G (p.Arg162Gly) c.403A>G (p.Arg135Gly) c.448A>G (p.Arg150Gly) c.*74A>G (n.*74A>G) c.445A>G (p.Arg149Gly) n.663A>G c.331A>G (p.Arg111Gly) n.710A>G | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 21 | g.34880581T= | CA2387294322 | RUNX1 | c.484A= (p.Arg162=) c.403A= (p.Arg135=) c.448A= (p.Arg150=) c.*74A= (n.*74A=) c.445A= (p.Arg149=) n.663A= c.331A= (p.Arg111=) n.710A= | dbSNP |