| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.47641630C>T | CA8040878 | PHKB | c.*120C>T (n.*120C>T) c.1525C>T (p.Gln509Ter) c.1546C>T (p.Gln516Ter) c.124C>T (p.Gln42Ter) c.433C>T (p.Gln145Ter) n.1561C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.47641630C= | CA2220476062 | PHKB | c.*120C= (n.*120C=) c.1525C= (p.Gln509=) c.1546C= (p.Gln516=) c.124C= (p.Gln42=) c.433C= (p.Gln145=) n.1561C= | dbSNP |