| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.1278750G>C | CA359079551 | TERT | c.2177C>G (p.Thr726Arg) c.*1723C>G (n.*1723C>G) c.2141C>G (p.Thr714Arg) n.990C>G c.647C>G (p.Thr216Arg) c.533C>G (p.Thr178Arg) n.2235C>G n.2199C>G n.2256C>G n.2220C>G | dbSNP |
| 5 | g.1278750G>T | CA359079553 | TERT | c.2177C>A (p.Thr726Lys) c.*1723C>A (n.*1723C>A) c.2141C>A (p.Thr714Lys) n.990C>A c.647C>A (p.Thr216Lys) c.533C>A (p.Thr178Lys) n.2235C>A n.2199C>A n.2256C>A n.2220C>A | ClinVar dbSNP |
| 5 | g.1278750G>A | CA343442 | TERT | c.2177C>T (p.Thr726Met) c.*1723C>T (n.*1723C>T) c.2141C>T (p.Thr714Met) n.990C>T c.647C>T (p.Thr216Met) c.533C>T (p.Thr178Met) n.2235C>T n.2199C>T n.2256C>T n.2220C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.1278750G= | CA1522564673 | TERT | c.2177C= (p.Thr726=) c.*1723C= (n.*1723C=) c.2141C= (p.Thr714=) n.990C= c.647C= (p.Thr216=) c.533C= (p.Thr178=) n.2235C= n.2199C= n.2256C= n.2220C= | dbSNP |