| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202467567G>T | CA350399618 | BMPR2 | c.296G>T (p.Cys99Phe) c.227G>T (p.Cys76Phe) n.203G>T | ClinVar dbSNP |
| 2 | g.202467567G>A | CA350399616 | BMPR2 | c.296G>A (p.Cys99Tyr) c.227G>A (p.Cys76Tyr) n.203G>A | ClinVar dbSNP |