| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1279376C>T | CA343431 | TERT | c.2045G>A (p.Gly682Asp) c.*1591G>A (n.*1591G>A) n.858G>A c.515G>A (p.Gly172Asp) c.401G>A (p.Gly134Asp) n.2103G>A n.2124G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.1279376C= | CA1522565525 | TERT | c.2045G= (p.Gly682=) c.*1591G= (n.*1591G=) n.858G= c.515G= (p.Gly172=) c.401G= (p.Gly134=) n.2103G= n.2124G= | dbSNP |