| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202464856C>T | CA350399161 | BMPR2 | c.124C>T (p.Gln42Ter) c.49C>T (p.Gln17Ter) n.31C>T | ClinVar dbSNP |
| 2 | g.202464856C>G | CA350399160 | BMPR2 | c.124C>G (p.Gln42Glu) c.49C>G (p.Gln17Glu) n.31C>G | dbSNP gnomAD v4 |
| 2 | g.202464856C= | CA1321507563 | BMPR2 | c.124C= (p.Gln42=) c.49C= (p.Gln17=) n.31C= | dbSNP |