| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202377513G>A | CA350396653 | BMPR2 | c.39G>A (p.Trp13Ter) | ClinVar dbSNP |
| 2 | g.202377513G>C | CA350396654 | BMPR2 | c.39G>C (p.Trp13Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.202377513G= | CA1321474688 | BMPR2 | c.39G= (p.Trp13=) | dbSNP |