| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11157174A>C | CA338371566 | MTOR | c.4447T>G (p.Cys1483Gly) n.367T>G c.4234T>G (p.Cys1412Gly) c.*1277T>G (n.*1277T>G) n.4568T>G c.3766T>G (p.Cys1256Gly) c.3199T>G (p.Cys1067Gly) | dbSNP |
| 1 | g.11157174A>T | CA338371570 | MTOR | c.4447T>A (p.Cys1483Ser) n.367T>A c.4234T>A (p.Cys1412Ser) c.*1277T>A (n.*1277T>A) n.4568T>A c.3766T>A (p.Cys1256Ser) c.3199T>A (p.Cys1067Ser) | dbSNP |
| 1 | g.11157174A>G | CA16602264 | MTOR | c.4447T>C (p.Cys1483Arg) n.367T>C c.4234T>C (p.Cys1412Arg) c.*1277T>C (n.*1277T>C) n.4568T>C c.3766T>C (p.Cys1256Arg) c.3199T>C (p.Cys1067Arg) | ClinVar dbSNP |
| 1 | g.11157174A= | CA1153537779 | MTOR | c.4447T= (p.Cys1483=) n.367T= c.4234T= (p.Cys1412=) c.*1277T= (n.*1277T=) n.4568T= c.3766T= (p.Cys1256=) c.3199T= (p.Cys1067=) | dbSNP |