| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112775677G>A | CA16022351 | APC | c.471G>A (p.Trp157Ter) n.527G>A c.*477G>A (n.*477G>A) c.501G>A (p.Trp167Ter) c.396G>A (p.Trp132Ter) c.294G>A (p.Trp98Ter) c.-565G>A (n.-565G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.112775677G>T | CA16022353 | APC | c.471G>T (p.Trp157Cys) n.527G>T c.*477G>T (n.*477G>T) c.501G>T (p.Trp167Cys) c.396G>T (p.Trp132Cys) c.294G>T (p.Trp98Cys) c.-565G>T (n.-565G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112775677G>C | CA16022352 | APC | c.471G>C (p.Trp157Cys) n.527G>C c.*477G>C (n.*477G>C) c.501G>C (p.Trp167Cys) c.396G>C (p.Trp132Cys) c.294G>C (p.Trp98Cys) c.-565G>C (n.-565G>C) | ClinVar dbSNP |