| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11122122G>A | CA338386408 | MTOR | c.*2042C>T (n.*2042C>T) n.2668C>T c.1304C>T c.6454C>T (p.Gln2152Ter) c.*2184C>T (n.*2184C>T) c.*3497C>T (n.*3497C>T) c.6667C>T (p.Gln2223Ter) c.1282C>T (p.Gln428Ter) n.6788C>T c.5986C>T (p.Gln1996Ter) c.5419C>T (p.Gln1807Ter) | dbSNP |
| 1 | g.11122122G>C | CA338386410 | MTOR | c.*2042C>G (n.*2042C>G) n.2668C>G c.1304C>G c.6454C>G (p.Gln2152Glu) c.*2184C>G (n.*2184C>G) c.*3497C>G (n.*3497C>G) c.6667C>G (p.Gln2223Glu) c.1282C>G (p.Gln428Glu) n.6788C>G c.5986C>G (p.Gln1996Glu) c.5419C>G (p.Gln1807Glu) | dbSNP |
| 1 | g.11122122G>T | CA16602586 | MTOR | c.*2042C>A (n.*2042C>A) n.2668C>A c.1304C>A c.6454C>A (p.Gln2152Lys) c.*2184C>A (n.*2184C>A) c.*3497C>A (n.*3497C>A) c.6667C>A (p.Gln2223Lys) c.1282C>A (p.Gln428Lys) n.6788C>A c.5986C>A (p.Gln1996Lys) c.5419C>A (p.Gln1807Lys) | ClinVar dbSNP COSMIC |