| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.38955694G>A | CA3245106 | RICTOR | c.2510C>T (p.Ser837Phe) c.470C>T (p.Ser157Phe) c.2462C>T (p.Ser821Phe) n.470C>T c.*1734C>T (n.*1734C>T) c.1655C>T (p.Ser552Phe) c.2321C>T (p.Ser774Phe) c.2351C>T (p.Ser784Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.38955694G>C | CA359563828 | RICTOR | c.2510C>G (p.Ser837Cys) c.470C>G (p.Ser157Cys) c.2462C>G (p.Ser821Cys) n.470C>G c.*1734C>G (n.*1734C>G) c.1655C>G (p.Ser552Cys) c.2321C>G (p.Ser774Cys) c.2351C>G (p.Ser784Cys) | dbSNP gnomAD v4 |
| 5 | g.38955694G>T | CA3245107 | RICTOR | c.2510C>A (p.Ser837Tyr) c.470C>A (p.Ser157Tyr) c.2462C>A (p.Ser821Tyr) n.470C>A c.*1734C>A (n.*1734C>A) c.1655C>A (p.Ser552Tyr) c.2321C>A (p.Ser774Tyr) c.2351C>A (p.Ser784Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |