| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112837687T>G | CA16025901 | APC | c.1758T>G (n.1758T>G) c.2147T>G (p.Leu716Ter) c.*2099T>G (n.*2099T>G) c.2039T>G (p.Leu680Ter) c.2093T>G (p.Leu698Ter) c.446T>G c.782T>G (p.Leu261Ter) c.*1415T>G (n.*1415T>G) c.230+8715T>G c.2123T>G (p.Leu708Ter) c.2018T>G (p.Leu673Ter) c.2009T>G (p.Leu670Ter) c.1970T>G (p.Leu657Ter) c.1916T>G (p.Leu639Ter) c.1820T>G (p.Leu607Ter) c.1790T>G (p.Leu597Ter) c.1715T>G (p.Leu572Ter) c.1613T>G (p.Leu538Ter) c.1244T>G (p.Leu415Ter) | ClinVar dbSNP |
| 5 | g.112837687T>C | CA16025900 | APC | c.1758T>C (n.1758T>C) c.2147T>C (p.Leu716Ser) c.*2099T>C (n.*2099T>C) c.2039T>C (p.Leu680Ser) c.2093T>C (p.Leu698Ser) c.446T>C c.782T>C (p.Leu261Ser) c.*1415T>C (n.*1415T>C) c.230+8715T>C c.2123T>C (p.Leu708Ser) c.2018T>C (p.Leu673Ser) c.2009T>C (p.Leu670Ser) c.1970T>C (p.Leu657Ser) c.1916T>C (p.Leu639Ser) c.1820T>C (p.Leu607Ser) c.1790T>C (p.Leu597Ser) c.1715T>C (p.Leu572Ser) c.1613T>C (p.Leu538Ser) c.1244T>C (p.Leu415Ser) | dbSNP |
| 5 | g.112837687T>A | CA007187 | APC | c.1758T>A (n.1758T>A) c.2147T>A (p.Leu716Ter) c.*2099T>A (n.*2099T>A) c.2039T>A (p.Leu680Ter) c.2093T>A (p.Leu698Ter) c.446T>A c.782T>A (p.Leu261Ter) c.*1415T>A (n.*1415T>A) c.230+8715T>A c.2123T>A (p.Leu708Ter) c.2018T>A (p.Leu673Ter) c.2009T>A (p.Leu670Ter) c.1970T>A (p.Leu657Ter) c.1916T>A (p.Leu639Ter) c.1820T>A (p.Leu607Ter) c.1790T>A (p.Leu597Ter) c.1715T>A (p.Leu572Ter) c.1613T>A (p.Leu538Ter) c.1244T>A (p.Leu415Ter) | ClinVar dbSNP |