Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112841965T>C | CA16035282 | APC | c.6425T>C (p.Leu2142Ser) c.*6377T>C (n.*6377T>C) c.6317T>C (p.Leu2106Ser) c.6371T>C (p.Leu2124Ser) c.*5693T>C (n.*5693T>C) c.230+12993T>C c.6401T>C (p.Leu2134Ser) c.6296T>C (p.Leu2099Ser) c.6287T>C (p.Leu2096Ser) c.6248T>C (p.Leu2083Ser) c.6194T>C (p.Leu2065Ser) c.6098T>C (p.Leu2033Ser) c.6068T>C (p.Leu2023Ser) c.5993T>C (p.Leu1998Ser) c.5891T>C (p.Leu1964Ser) c.5522T>C (p.Leu1841Ser) | dbSNP |
5 | g.112841965T>A | CA16035281 | APC | c.6425T>A (p.Leu2142Ter) c.*6377T>A (n.*6377T>A) c.6317T>A (p.Leu2106Ter) c.6371T>A (p.Leu2124Ter) c.*5693T>A (n.*5693T>A) c.230+12993T>A c.6401T>A (p.Leu2134Ter) c.6296T>A (p.Leu2099Ter) c.6287T>A (p.Leu2096Ter) c.6248T>A (p.Leu2083Ter) c.6194T>A (p.Leu2065Ter) c.6098T>A (p.Leu2033Ter) c.6068T>A (p.Leu2023Ter) c.5993T>A (p.Leu1998Ter) c.5891T>A (p.Leu1964Ter) c.5522T>A (p.Leu1841Ter) | ClinVar dbSNP |