| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202464910T>C | CA350399332 | BMPR2 | c.178T>C (p.Cys60Arg) c.103T>C (p.Cys35Arg) n.85T>C | ClinVar dbSNP |
| 2 | g.202464910T>G | CA350399333 | BMPR2 | c.178T>G (p.Cys60Gly) c.103T>G (p.Cys35Gly) n.85T>G | ClinVar dbSNP |
| 2 | g.202464910T= | CA1321507683 | BMPR2 | c.178T= (p.Cys60=) c.103T= (p.Cys35=) n.85T= | dbSNP |