| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202464823G>T | CA350399005 | BMPR2 | c.91G>T (p.Glu31Ter) c.16G>T (p.Glu6Ter) | ClinVar dbSNP |
| 2 | g.202464823G>A | CA350399001 | BMPR2 | c.91G>A (p.Glu31Lys) c.16G>A (p.Glu6Lys) | ClinVar dbSNP gnomAD v4 |
| 2 | g.202464823G= | CA1321507494 | BMPR2 | c.91G= (p.Glu31=) c.16G= (p.Glu6=) | dbSNP |