| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.47650919C>A | CA8041017 | PHKB | c.*543C>A (n.*543C>A) c.1948C>A (p.Gln650Lys) c.1969C>A (p.Gln657Lys) n.90C>A c.547C>A (p.Gln183Lys) c.856C>A (p.Gln286Lys) n.1984C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.47650919C>T | CA256911 | PHKB | c.*543C>T (n.*543C>T) c.1948C>T (p.Gln650Ter) c.1969C>T (p.Gln657Ter) n.90C>T c.547C>T (p.Gln183Ter) c.856C>T (p.Gln286Ter) n.1984C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |