| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86919316C>A | CA254361 | BMPR1A | c.1013C>A (p.Ala338Asp) | ClinVar dbSNP |
| 10 | g.86919316C>T | CA377460566 | BMPR1A | c.1013C>T (p.Ala338Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.86919316C= | CA1925726662 | BMPR1A | c.1013C= (p.Ala338=) | dbSNP |