Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.202464911G>A | CA350399334 | BMPR2 | c.179G>A (p.Cys60Tyr) c.104G>A (p.Cys35Tyr) n.86G>A | ClinVar dbSNP |
2 | g.202464911G>T | CA350399336 | BMPR2 | c.179G>T (p.Cys60Phe) c.104G>T (p.Cys35Phe) n.86G>T | ClinVar dbSNP |