| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11114363C>A | CA338380883 | MTOR | c.*2630G>T (n.*2630G>T) n.3173G>T c.2043G>T c.7042G>T (p.Glu2348Ter) c.*2772G>T (n.*2772G>T) c.*4085G>T (n.*4085G>T) c.7255G>T (p.Glu2419Ter) c.1870G>T (p.Glu624Ter) c.223G>T (p.Glu75Ter) n.267G>T n.298G>T n.7293G>T c.6574G>T (p.Glu2192Ter) c.6007G>T (p.Glu2003Ter) | dbSNP |
| 1 | g.11114363C>G | CA338380886 | MTOR | c.*2630G>C (n.*2630G>C) n.3173G>C c.2043G>C c.7042G>C (p.Glu2348Gln) c.*2772G>C (n.*2772G>C) c.*4085G>C (n.*4085G>C) c.7255G>C (p.Glu2419Gln) c.1870G>C (p.Glu624Gln) c.223G>C (p.Glu75Gln) n.267G>C n.298G>C n.7293G>C c.6574G>C (p.Glu2192Gln) c.6007G>C (p.Glu2003Gln) | dbSNP |
| 1 | g.11114363C>T | CA248407 | MTOR | c.*2630G>A (n.*2630G>A) n.3173G>A c.2043G>A c.7042G>A (p.Glu2348Lys) c.*2772G>A (n.*2772G>A) c.*4085G>A (n.*4085G>A) c.7255G>A (p.Glu2419Lys) c.1870G>A (p.Glu624Lys) c.223G>A (p.Glu75Lys) n.267G>A n.298G>A n.7293G>A c.6574G>A (p.Glu2192Lys) c.6007G>A (p.Glu2003Lys) | ClinVar dbSNP COSMIC |