| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202542405dup | CA645293845 | BMPR2 | c.1371dup (p.Gln458ThrfsTer13) c.1302dup (p.Gln435ThrfsTer13) | ClinVar dbSNP |
| 2 | g.202542405del | CA645293846 | BMPR2 | c.1371del (p.Lys457AsnfsTer17) c.1302del (p.Lys434AsnfsTer17) | ClinVar dbSNP COSMIC |