| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112819272C>T | CA004103 | APC | c.1240C>T (p.Arg414Cys) n.1296C>T c.*1246C>T (n.*1246C>T) c.1186C>T (p.Arg396Cys) c.*562C>T (n.*562C>T) 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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112819272C>A | CA10578311 | APC | c.1240C>A (p.Arg414Ser) n.1296C>A c.*1246C>A (n.*1246C>A) c.1186C>A (p.Arg396Ser) c.*562C>A (n.*562C>A) 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) | ClinVar dbSNP gnomAD v2 |
| 5 | g.112819272C>G | CA16024017 | APC | c.1240C>G (p.Arg414Gly) n.1296C>G c.*1246C>G (n.*1246C>G) c.1186C>G (p.Arg396Gly) c.*562C>G (n.*562C>G) c.1270C>G (p.Arg424Gly) c.1165C>G (p.Arg389Gly) c.1156C>G (p.Arg386Gly) c.1063C>G (p.Arg355Gly) c.967C>G (p.Arg323Gly) c.937C>G (p.Arg313Gly) c.862C>G (p.Arg288Gly) c.760C>G (p.Arg254Gly) c.391C>G (p.Arg131Gly) | ClinVar dbSNP |