| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202552811A>C | CA16610570 | BMPR2 | c.1509A>C (p.Glu503Asp) c.1440A>C (p.Glu480Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.202552811A>T | CA350344734 | BMPR2 | c.1509A>T (p.Glu503Asp) c.1440A>T (p.Glu480Asp) | dbSNP gnomAD v4 |
| 2 | g.202552811A= | CA1321556637 | BMPR2 | c.1509A= (p.Glu503=) c.1440A= (p.Glu480=) | dbSNP |