| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202464928T>C | CA350399373 | BMPR2 | c.196T>C (p.Cys66Arg) c.121T>C (p.Cys41Arg) n.103T>C | ClinVar dbSNP |
| 2 | g.202464928T>G | CA350399374 | BMPR2 | c.196T>G (p.Cys66Gly) c.121T>G (p.Cys41Gly) n.103T>G | ClinVar dbSNP |
| 2 | g.202464928T= | CA1321507742 | BMPR2 | c.196T= (p.Cys66=) c.121T= (p.Cys41=) n.103T= | dbSNP |