| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202552774G>T | CA350344573 | BMPR2 | c.1472G>T (p.Arg491Leu) c.1403G>T (p.Arg468Leu) | ClinVar dbSNP |
| 2 | g.202552774G>A | CA278089 | BMPR2 | c.1472G>A (p.Arg491Gln) c.1403G>A (p.Arg468Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
| 2 | g.202552774G= | CA1321556571 | BMPR2 | c.1472G= (p.Arg491=) c.1403G= (p.Arg468=) | dbSNP |