| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112801310C>G | CA16022997 | APC | c.761C>G (p.Ser254Ter) n.817C>G c.*767C>G (n.*767C>G) c.707C>G (p.Ser236Ter) c.791C>G (p.Ser264Ter) c.686C>G (p.Ser229Ter) c.677C>G (p.Ser226Ter) c.584C>G (p.Ser195Ter) c.-275C>G (n.-275C>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112801310C>A | CA16022996 | APC | c.761C>A (p.Ser254Ter) n.817C>A c.*767C>A (n.*767C>A) c.707C>A (p.Ser236Ter) c.791C>A (p.Ser264Ter) c.686C>A (p.Ser229Ter) c.677C>A (p.Ser226Ter) c.584C>A (p.Ser195Ter) c.-275C>A (n.-275C>A) | dbSNP |
| 5 | g.112801310C>T | CA16022998 | APC | c.761C>T (p.Ser254Leu) n.817C>T c.*767C>T (n.*767C>T) c.707C>T (p.Ser236Leu) c.791C>T (p.Ser264Leu) c.686C>T (p.Ser229Leu) c.677C>T (p.Ser226Leu) c.584C>T (p.Ser195Leu) c.-275C>T (n.-275C>T) | ClinVar dbSNP gnomAD v4 |