| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202377512G>A | CA350396647 | BMPR2 | c.38G>A (p.Trp13Ter) | ClinVar dbSNP |
| 2 | g.202377512G= | CA1321474687 | BMPR2 | c.38G= (p.Trp13=) | dbSNP |
| 2 | g.202377512G>C | CA350396649 | BMPR2 | c.38G>C (p.Trp13Ser) | ClinVar dbSNP gnomAD v4 |