| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202518927G>A | CA350340374 | BMPR2 | c.727G>A (p.Glu243Lys) c.658G>A (p.Glu220Lys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.202518927G>C | CA350340375 | BMPR2 | c.727G>C (p.Glu243Gln) c.658G>C (p.Glu220Gln) | ClinVar dbSNP |
| 2 | g.202518927G>T | CA350340376 | BMPR2 | c.727G>T (p.Glu243Ter) c.658G>T (p.Glu220Ter) | ClinVar dbSNP |