Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112838399C>T | CA007819 | APC | c.2470C>T (n.2470C>T) c.2859C>T (p.Tyr953=) c.*2811C>T (n.*2811C>T) c.2751C>T (p.Tyr917=) c.2805C>T (p.Tyr935=) c.1158C>T c.*2127C>T (n.*2127C>T) c.230+9427C>T c.2835C>T (p.Tyr945=) c.2730C>T (p.Tyr910=) c.2721C>T (p.Tyr907=) c.2682C>T (p.Tyr894=) c.2628C>T (p.Tyr876=) c.2532C>T (p.Tyr844=) c.2502C>T (p.Tyr834=) c.2427C>T (p.Tyr809=) c.2325C>T (p.Tyr775=) c.1956C>T (p.Tyr652=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.112838399C>G | CA007811 | APC | c.2470C>G (n.2470C>G) c.2859C>G (p.Tyr953Ter) c.*2811C>G (n.*2811C>G) c.2751C>G (p.Tyr917Ter) c.2805C>G (p.Tyr935Ter) c.1158C>G c.*2127C>G (n.*2127C>G) c.230+9427C>G c.2835C>G (p.Tyr945Ter) c.2730C>G (p.Tyr910Ter) c.2721C>G (p.Tyr907Ter) c.2682C>G (p.Tyr894Ter) c.2628C>G (p.Tyr876Ter) c.2532C>G (p.Tyr844Ter) c.2502C>G (p.Tyr834Ter) c.2427C>G (p.Tyr809Ter) c.2325C>G (p.Tyr775Ter) c.1956C>G (p.Tyr652Ter) | ClinVar dbSNP COSMIC |
5 | g.112838399C>A | CA007805 | APC | c.2470C>A (n.2470C>A) c.2859C>A (p.Tyr953Ter) c.*2811C>A (n.*2811C>A) c.2751C>A (p.Tyr917Ter) c.2805C>A (p.Tyr935Ter) c.1158C>A c.*2127C>A (n.*2127C>A) c.230+9427C>A c.2835C>A (p.Tyr945Ter) c.2730C>A (p.Tyr910Ter) c.2721C>A (p.Tyr907Ter) c.2682C>A (p.Tyr894Ter) c.2628C>A (p.Tyr876Ter) c.2532C>A (p.Tyr844Ter) c.2502C>A (p.Tyr834Ter) c.2427C>A (p.Tyr809Ter) c.2325C>A (p.Tyr775Ter) c.1956C>A (p.Tyr652Ter) | ClinVar dbSNP COSMIC |