| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112837691G>A | CA16025910 | APC | c.1762G>A (n.1762G>A) c.2151G>A (p.Trp717Ter) c.*2103G>A (n.*2103G>A) c.2043G>A (p.Trp681Ter) c.2097G>A (p.Trp699Ter) c.450G>A c.786G>A (p.Trp262Ter) c.*1419G>A (n.*1419G>A) c.230+8719G>A c.2127G>A (p.Trp709Ter) c.2022G>A (p.Trp674Ter) c.2013G>A (p.Trp671Ter) c.1974G>A (p.Trp658Ter) c.1920G>A (p.Trp640Ter) c.1824G>A (p.Trp608Ter) c.1794G>A (p.Trp598Ter) c.1719G>A (p.Trp573Ter) c.1617G>A (p.Trp539Ter) c.1248G>A (p.Trp416Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 5 | g.112837691G>T | CA16025912 | APC | c.1762G>T (n.1762G>T) c.2151G>T (p.Trp717Cys) c.*2103G>T (n.*2103G>T) c.2043G>T (p.Trp681Cys) c.2097G>T (p.Trp699Cys) c.450G>T c.786G>T (p.Trp262Cys) c.*1419G>T (n.*1419G>T) c.230+8719G>T c.2127G>T (p.Trp709Cys) c.2022G>T (p.Trp674Cys) c.2013G>T (p.Trp671Cys) c.1974G>T (p.Trp658Cys) c.1920G>T (p.Trp640Cys) c.1824G>T (p.Trp608Cys) c.1794G>T (p.Trp598Cys) c.1719G>T (p.Trp573Cys) c.1617G>T (p.Trp539Cys) c.1248G>T (p.Trp416Cys) | dbSNP |
| 5 | g.112837691G>C | CA16025911 | APC | c.1762G>C (n.1762G>C) c.2151G>C (p.Trp717Cys) c.*2103G>C (n.*2103G>C) c.2043G>C (p.Trp681Cys) c.2097G>C (p.Trp699Cys) c.450G>C c.786G>C (p.Trp262Cys) c.*1419G>C (n.*1419G>C) c.230+8719G>C c.2127G>C (p.Trp709Cys) c.2022G>C (p.Trp674Cys) c.2013G>C (p.Trp671Cys) c.1974G>C (p.Trp658Cys) c.1920G>C (p.Trp640Cys) c.1824G>C (p.Trp608Cys) c.1794G>C (p.Trp598Cys) c.1719G>C (p.Trp573Cys) c.1617G>C (p.Trp539Cys) c.1248G>C (p.Trp416Cys) | ClinVar dbSNP |