| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1279341C>T | CA122657 | TERT | c.2080G>A (p.Val694Met) c.*1626G>A (n.*1626G>A) n.893G>A c.550G>A (p.Val184Met) c.436G>A (p.Val146Met) n.2138G>A n.2159G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.1279341C= | CA1522565507 | TERT | c.2080G= (p.Val694=) c.*1626G= (n.*1626G=) n.893G= c.550G= (p.Val184=) c.436G= (p.Val146=) n.2138G= n.2159G= | dbSNP |