| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202556360C>G | CA2061570 | BMPR2 | c.2695C>G (p.Arg899Gly) c.2626C>G (n.2626C>G) c.1587-3336C>G (n.1587-3336C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.202556360C>T | CA278069 | BMPR2 | c.2695C>T (p.Arg899Ter) c.2626C>T (n.2626C>T) c.1587-3336C>T (n.1587-3336C>T) | ClinVar dbSNP gnomAD v4 |
| 2 | g.202556360C= | CA1321560065 | BMPR2 | c.2695C= (p.Arg899=) c.2626C= (n.2626C=) c.1587-3336C= (n.1587-3336C=) | dbSNP |