| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11124516G>T | CA16602587 | MTOR | c.*2019C>A (n.*2019C>A) n.2645C>A c.1281C>A c.6431C>A (p.Ser2144Tyr) c.*2161C>A (n.*2161C>A) c.*3474C>A (n.*3474C>A) c.6644C>A (p.Ser2215Tyr) c.1259C>A (p.Ser420Tyr) n.6765C>A c.5963C>A (p.Ser1988Tyr) c.5396C>A (p.Ser1799Tyr) | ClinVar dbSNP COSMIC |
| 1 | g.11124516G>C | CA338387270 | MTOR | c.*2019C>G (n.*2019C>G) n.2645C>G c.1281C>G c.6431C>G (p.Ser2144Cys) c.*2161C>G (n.*2161C>G) c.*3474C>G (n.*3474C>G) c.6644C>G (p.Ser2215Cys) c.1259C>G (p.Ser420Cys) n.6765C>G c.5963C>G (p.Ser1988Cys) c.5396C>G (p.Ser1799Cys) | dbSNP |
| 1 | g.11124516G>A | CA248393 | MTOR | c.*2019C>T (n.*2019C>T) n.2645C>T c.1281C>T c.6431C>T (p.Ser2144Phe) c.*2161C>T (n.*2161C>T) c.*3474C>T (n.*3474C>T) c.6644C>T (p.Ser2215Phe) c.1259C>T (p.Ser420Phe) n.6765C>T c.5963C>T (p.Ser1988Phe) c.5396C>T (p.Ser1799Phe) | ClinVar dbSNP COSMIC |