| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.11130747C>T | CA279594 | MTOR | c.*770G>A (n.*770G>A) n.1199G>A c.32G>A c.5182G>A (p.Glu1728Lys) c.*715G>A (n.*715G>A) c.*2225G>A (n.*2225G>A) c.5395G>A (p.Glu1799Lys) c.10G>A (p.Glu4Lys) n.5516G>A c.4714G>A (p.Glu1572Lys) c.4147G>A (p.Glu1383Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.11130747C>G | CA338398803 | MTOR | c.*770G>C (n.*770G>C) n.1199G>C c.32G>C c.5182G>C (p.Glu1728Gln) c.*715G>C (n.*715G>C) c.*2225G>C (n.*2225G>C) c.5395G>C (p.Glu1799Gln) c.10G>C (p.Glu4Gln) n.5516G>C c.4714G>C (p.Glu1572Gln) c.4147G>C (p.Glu1383Gln) | dbSNP gnomAD v4 |
| 1 | g.11130747C>A | CA338398801 | MTOR | c.*770G>T (n.*770G>T) n.1199G>T c.32G>T c.5182G>T (p.Glu1728Ter) c.*715G>T (n.*715G>T) c.*2225G>T (n.*2225G>T) c.5395G>T (p.Glu1799Ter) c.10G>T (p.Glu4Ter) n.5516G>T c.4714G>T (p.Glu1572Ter) c.4147G>T (p.Glu1383Ter) | dbSNP gnomAD v4 |