| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112843107C>T | CA16037666 | APC | c.7567C>T (p.Arg2523Ter) c.*7519C>T (n.*7519C>T) c.7459C>T (p.Arg2487Ter) c.7513C>T (p.Arg2505Ter) c.231-13542C>T c.7543C>T (p.Arg2515Ter) c.7438C>T (p.Arg2480Ter) c.7429C>T (p.Arg2477Ter) c.7390C>T (p.Arg2464Ter) c.7336C>T (p.Arg2446Ter) c.7240C>T (p.Arg2414Ter) c.7210C>T (p.Arg2404Ter) c.7135C>T (p.Arg2379Ter) c.7033C>T (p.Arg2345Ter) c.6664C>T (p.Arg2222Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112843107C>G | CA013742 | APC | c.7567C>G (p.Arg2523Gly) c.*7519C>G (n.*7519C>G) c.7459C>G (p.Arg2487Gly) c.7513C>G (p.Arg2505Gly) c.231-13542C>G c.7543C>G (p.Arg2515Gly) c.7438C>G (p.Arg2480Gly) c.7429C>G (p.Arg2477Gly) c.7390C>G (p.Arg2464Gly) c.7336C>G (p.Arg2446Gly) c.7240C>G (p.Arg2414Gly) c.7210C>G (p.Arg2404Gly) c.7135C>G (p.Arg2379Gly) c.7033C>G (p.Arg2345Gly) c.6664C>G (p.Arg2222Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |