| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.47696411G>A | CA396101053 | PHKB | c.*1500G>A (n.*1500G>A) c.*554G>A (n.*554G>A) c.2926G>A (p.Glu976Lys) c.2905G>A (p.Glu969Lys) n.1742G>A c.1504G>A (p.Glu502Lys) c.1813G>A (p.Glu605Lys) n.2850G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.47696411G>T | CA034971 | PHKB | c.*1500G>T (n.*1500G>T) c.*554G>T (n.*554G>T) c.2926G>T (p.Glu976Ter) c.2905G>T (p.Glu969Ter) n.1742G>T c.1504G>T (p.Glu502Ter) c.1813G>T (p.Glu605Ter) n.2850G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |