| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.78865702G>A | CA2980216 | BMP2K | c.1213G>A (p.Gly405Ser) c.*189G>A (n.*189G>A) c.290G>A n.495G>A c.973G>A (p.Gly325Ser) c.325G>A (p.Gly109Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.78865702G= | CA1470731378 | BMP2K | c.1213G= (p.Gly405=) c.*189G= (n.*189G=) c.290G= n.495G= c.973G= (p.Gly325=) c.325G= (p.Gly109=) | dbSNP |