| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202464835del | CA645293989 | BMPR2 | c.103del (p.Ala35ArgfsTer12) c.28del (p.Ala10ArgfsTer12) n.10del | ClinVar dbSNP |
| 2 | g.202464835G= | CA1321507531 | BMPR2 | c.103G= (p.Ala35=) c.28G= (p.Ala10=) n.10G= | dbSNP dbSNP |