Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112841358C>A | CA16033941 | APC | c.5818C>A (p.Gln1940Lys) c.*5770C>A (n.*5770C>A) c.5710C>A (p.Gln1904Lys) c.5764C>A (p.Gln1922Lys) c.*5086C>A (n.*5086C>A) c.230+12386C>A c.5794C>A (p.Gln1932Lys) c.5689C>A (p.Gln1897Lys) c.5680C>A (p.Gln1894Lys) c.5641C>A (p.Gln1881Lys) c.5587C>A (p.Gln1863Lys) c.5491C>A (p.Gln1831Lys) c.5461C>A (p.Gln1821Lys) c.5386C>A (p.Gln1796Lys) c.5284C>A (p.Gln1762Lys) c.4915C>A (p.Gln1639Lys) | dbSNP |
5 | g.112841358C>G | CA16033942 | APC | c.5818C>G (p.Gln1940Glu) c.*5770C>G (n.*5770C>G) c.5710C>G (p.Gln1904Glu) c.5764C>G (p.Gln1922Glu) c.*5086C>G (n.*5086C>G) c.230+12386C>G c.5794C>G (p.Gln1932Glu) c.5689C>G (p.Gln1897Glu) c.5680C>G (p.Gln1894Glu) c.5641C>G (p.Gln1881Glu) c.5587C>G (p.Gln1863Glu) c.5491C>G (p.Gln1831Glu) c.5461C>G (p.Gln1821Glu) c.5386C>G (p.Gln1796Glu) c.5284C>G (p.Gln1762Glu) c.4915C>G (p.Gln1639Glu) | dbSNP |
5 | g.112841358C>T | CA16033943 | APC | c.5818C>T (p.Gln1940Ter) c.*5770C>T (n.*5770C>T) c.5710C>T (p.Gln1904Ter) c.5764C>T (p.Gln1922Ter) c.*5086C>T (n.*5086C>T) c.230+12386C>T c.5794C>T (p.Gln1932Ter) c.5689C>T (p.Gln1897Ter) c.5680C>T (p.Gln1894Ter) c.5641C>T (p.Gln1881Ter) c.5587C>T (p.Gln1863Ter) c.5491C>T (p.Gln1831Ter) c.5461C>T (p.Gln1821Ter) c.5386C>T (p.Gln1796Ter) c.5284C>T (p.Gln1762Ter) c.4915C>T (p.Gln1639Ter) | ClinVar dbSNP |