| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112819272C>A | CA10578311 | APC | c.1240C>A (p.Arg414Ser) c.1186C>A (p.Arg396Ser) c.1270C>A (p.Arg424Ser) c.1165C>A (p.Arg389Ser) c.1156C>A (p.Arg386Ser) c.1063C>A (p.Arg355Ser) c.967C>A (p.Arg323Ser) c.937C>A (p.Arg313Ser) c.862C>A (p.Arg288Ser) c.760C>A (p.Arg254Ser) c.391C>A (p.Arg131Ser) c.*562C>A (p.=) | ClinVar dbSNP gnomAD |
| 5 | g.112819272C>T | CA004103 | APC | c.1240C>T (p.Arg414Cys) c.1186C>T (p.Arg396Cys) c.1270C>T (p.Arg424Cys) c.1165C>T (p.Arg389Cys) c.1156C>T (p.Arg386Cys) c.1063C>T (p.Arg355Cys) c.967C>T (p.Arg323Cys) c.937C>T (p.Arg313Cys) c.862C>T (p.Arg288Cys) c.760C>T (p.Arg254Cys) c.391C>T (p.Arg131Cys) c.*562C>T (p.=) | ClinVar dbSNP ExAC gnomAD |