| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202464950C>T | CA350399427 | BMPR2 | c.218C>T (p.Ser73Leu) c.143C>T (p.Ser48Leu) n.125C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.202464950C>G | CA278072 | BMPR2 | c.218C>G (p.Ser73Ter) c.143C>G (p.Ser48Ter) n.125C>G | ClinVar dbSNP |
| 2 | g.202464950C>A | CA350399426 | BMPR2 | c.218C>A (p.Ser73Ter) c.143C>A (p.Ser48Ter) n.125C>A | ClinVar dbSNP |