| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202464820C>T | CA350398991 | BMPR2 | c.88C>T (p.Gln30Ter) c.13C>T (p.Gln5Ter) | ClinVar dbSNP |
| 2 | g.202464820C= | CA1321507484 | BMPR2 | c.88C= (p.Gln30=) c.13C= (p.Gln5=) | dbSNP |
| 2 | g.202464820C>A | CA350398987 | BMPR2 | c.88C>A (p.Gln30Lys) c.13C>A (p.Gln5Lys) | dbSNP gnomAD v4 |