| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.202556253G>T | CA350348973 | BMPR2 | c.2588G>T (p.Ser863Ile) c.2519G>T (n.2519G>T) c.1586+3365G>T (n.1586+3365G>T) | dbSNP |
| 2 | g.202556253G>A | CA64043930 | BMPR2 | c.2588G>A (p.Ser863Asn) c.2519G>A (n.2519G>A) c.1586+3365G>A (n.1586+3365G>A) | ClinVar dbSNP |