| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11127800C>T | CA16602589 | MTOR | c.*1415G>A (n.*1415G>A) n.2041G>A c.677G>A c.5827G>A (p.Glu1943Lys) c.*1557G>A (n.*1557G>A) c.*2870G>A (n.*2870G>A) c.6040G>A (p.Glu2014Lys) c.655G>A (p.Glu219Lys) n.6161G>A c.5359G>A (p.Glu1787Lys) c.4792G>A (p.Glu1598Lys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.11127800C>G | CA338394236 | MTOR | c.*1415G>C (n.*1415G>C) n.2041G>C c.677G>C c.5827G>C (p.Glu1943Gln) c.*1557G>C (n.*1557G>C) c.*2870G>C (n.*2870G>C) c.6040G>C (p.Glu2014Gln) c.655G>C (p.Glu219Gln) n.6161G>C c.5359G>C (p.Glu1787Gln) c.4792G>C (p.Glu1598Gln) | dbSNP gnomAD v4 |
| 1 | g.11127800C>A | CA338394235 | MTOR | c.*1415G>T (n.*1415G>T) n.2041G>T c.677G>T c.5827G>T (p.Glu1943Ter) c.*1557G>T (n.*1557G>T) c.*2870G>T (n.*2870G>T) c.6040G>T (p.Glu2014Ter) c.655G>T (p.Glu219Ter) n.6161G>T c.5359G>T (p.Glu1787Ter) c.4792G>T (p.Glu1598Ter) | dbSNP |