| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112767318C>T | CA16022088 | APC | c.350C>T (p.Ser117Leu) n.406C>T c.*356C>T (n.*356C>T) c.380C>T (p.Ser127Leu) c.275C>T (p.Ser92Leu) c.173C>T (p.Ser58Leu) c.-686C>T (n.-686C>T) | dbSNP COSMIC |
| 5 | g.112767318C>G | CA16022087 | APC | c.350C>G (p.Ser117Ter) n.406C>G c.*356C>G (n.*356C>G) c.380C>G (p.Ser127Ter) c.275C>G (p.Ser92Ter) c.173C>G (p.Ser58Ter) c.-686C>G (n.-686C>G) | dbSNP |
| 5 | g.112767318C>A | CA16022086 | APC | c.350C>A (p.Ser117Ter) n.406C>A c.*356C>A (n.*356C>A) c.380C>A (p.Ser127Ter) c.275C>A (p.Ser92Ter) c.173C>A (p.Ser58Ter) c.-686C>A (n.-686C>A) | ClinVar dbSNP gnomAD v4 COSMIC |