| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.66436759A>T | CA392930284 | MAP2K1 | c.239A>T (p.Glu80Val) c.305A>T (p.Glu102Val) c.291+1522A>T (n.291+1522A>T) n.741A>T n.816A>T | ClinVar dbSNP |
| 15 | g.66436759A>G | CA347244 | MAP2K1 | c.239A>G (p.Glu80Gly) c.305A>G (p.Glu102Gly) c.291+1522A>G (n.291+1522A>G) n.741A>G n.816A>G | ClinVar dbSNP |