| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202467591C>A | CA350399661 | BMPR2 | c.320C>A (p.Ser107Ter) c.251C>A (p.Ser84Ter) n.227C>A | ClinVar dbSNP gnomAD v4 |
| 2 | g.202467591C>G | CA350399663 | BMPR2 | c.320C>G (p.Ser107Ter) c.251C>G (p.Ser84Ter) n.227C>G | ClinVar dbSNP |
| 2 | g.202467591C>T | CA350399662 | BMPR2 | c.320C>T (p.Ser107Leu) c.251C>T (p.Ser84Leu) n.227C>T | dbSNP gnomAD v4 |