| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.34880579C>A | CA16602488 | RUNX1 | c.486G>T (p.Arg162Ser) c.405G>T (p.Arg135Ser) c.450G>T (p.Arg150Ser) c.*76G>T (n.*76G>T) c.447G>T (p.Arg149Ser) n.665G>T c.333G>T (p.Arg111Ser) n.712G>T | ClinVar dbSNP |
| 21 | g.34880579C>T | CA512318666 | RUNX1 | c.486G>A (p.Arg162=) c.405G>A (p.Arg135=) c.450G>A (p.Arg150=) c.*76G>A (n.*76G>A) c.447G>A (p.Arg149=) n.665G>A c.333G>A (p.Arg111=) n.712G>A | dbSNP gnomAD v4 |
| 21 | g.34880579C>G | CA16602489 | RUNX1 | c.486G>C (p.Arg162Ser) c.405G>C (p.Arg135Ser) c.450G>C (p.Arg150Ser) c.*76G>C (n.*76G>C) c.447G>C (p.Arg149Ser) n.665G>C c.333G>C (p.Arg111Ser) n.712G>C | ClinVar dbSNP COSMIC COSMIC |