| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202467551T>C | CA350399577 | BMPR2 | c.280T>C (p.Cys94Arg) c.211T>C (p.Cys71Arg) n.187T>C | ClinVar dbSNP |
| 2 | g.202467551T>G | CA350399576 | BMPR2 | c.280T>G (p.Cys94Gly) c.211T>G (p.Cys71Gly) n.187T>G | ClinVar dbSNP |