| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202467621G>A | CA350399730 | BMPR2 | c.350G>A (p.Cys117Tyr) c.281G>A (p.Cys94Tyr) n.257G>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.202467621G>C | CA350399731 | BMPR2 | c.350G>C (p.Cys117Ser) c.281G>C (p.Cys94Ser) n.257G>C | ClinVar dbSNP |