| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.47515562G>T | CA203211 | PHKB | c.534G>T (p.Met178Ile) c.555G>T (p.Met185Ile) n.97-31871G>T n.570G>T c.389G>T c.-951G>T (n.-951G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.47515562G= | CA2220398802 | PHKB | c.534G= (p.Met178=) c.555G= (p.Met185=) n.97-31871G= n.570G= c.389G= c.-951G= (n.-951G=) | dbSNP |