| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112841059T>A | CA010422 | APC | c.5519T>A (p.Val1840Asp) c.*5471T>A (n.*5471T>A) c.5411T>A (p.Val1804Asp) c.5465T>A (p.Val1822Asp) c.*4787T>A (n.*4787T>A) c.230+12087T>A c.5495T>A (p.Val1832Asp) c.5390T>A (p.Val1797Asp) c.5381T>A (p.Val1794Asp) c.5342T>A (p.Val1781Asp) c.5288T>A (p.Val1763Asp) c.5192T>A (p.Val1731Asp) c.5162T>A (p.Val1721Asp) c.5087T>A (p.Val1696Asp) c.4985T>A (p.Val1662Asp) c.4616T>A (p.Val1539Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112841059T>G | CA10578404 | APC | c.5519T>G (p.Val1840Gly) c.*5471T>G (n.*5471T>G) c.5411T>G (p.Val1804Gly) c.5465T>G (p.Val1822Gly) c.*4787T>G (n.*4787T>G) c.230+12087T>G c.5495T>G (p.Val1832Gly) c.5390T>G (p.Val1797Gly) c.5381T>G (p.Val1794Gly) c.5342T>G (p.Val1781Gly) c.5288T>G (p.Val1763Gly) c.5192T>G (p.Val1731Gly) c.5162T>G (p.Val1721Gly) c.5087T>G (p.Val1696Gly) c.4985T>G (p.Val1662Gly) c.4616T>G (p.Val1539Gly) | ClinVar dbSNP gnomAD v4 |