| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202555789C>G | CA350347533 | BMPR2 | c.2124C>G (p.Tyr708Ter) c.2055C>G (n.2055C>G) c.1586+2901C>G (n.1586+2901C>G) | ClinVar dbSNP |
| 2 | g.202555789C>T | CA430905045 | BMPR2 | c.2124C>T (p.Tyr708=) c.2055C>T (n.2055C>T) c.1586+2901C>T (n.1586+2901C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |