Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43045711G>C | CA003716 | BRCA1 | c.5556C>G (p.Tyr1852Ter) c.5559C>G (p.Tyr1853Ter) c.5433C>G (p.Tyr1811Ter) c.5553C>G (p.Tyr1851Ter) c.5481C>G (p.Tyr1827Ter) c.2247C>G (p.Tyr749Ter) c.2109C>G (p.Tyr703Ter) c.4671C>G (p.Tyr1557Ter) c.5436C>G (p.Tyr1812Ter) c.5625C>G (p.Tyr1875Ter) c.5418C>G (p.Tyr1806Ter) c.2121C>G (p.Tyr707Ter) n.1442C>G n.923C>G c.5622C>G (p.Tyr1874Ter) c.1946C>G c.2133C>G (p.Tyr711Ter) c.*5342C>G (n.*5342C>G) c.*73C>G (n.*73C>G) c.489C>G (p.Tyr163Ter) c.1032C>G (p.Tyr344Ter) c.258C>G (p.Tyr86Ter) n.5695C>G n.5736C>G | ClinVar dbSNP |
17 | g.43045711G>A | CA500142882 | BRCA1 | c.5556C>T (p.Tyr1852=) c.5559C>T (p.Tyr1853=) c.5433C>T (p.Tyr1811=) c.5553C>T (p.Tyr1851=) c.5481C>T (p.Tyr1827=) c.2247C>T (p.Tyr749=) c.2109C>T (p.Tyr703=) c.4671C>T (p.Tyr1557=) c.5436C>T (p.Tyr1812=) c.5625C>T (p.Tyr1875=) c.5418C>T (p.Tyr1806=) c.2121C>T (p.Tyr707=) n.1442C>T n.923C>T c.5622C>T (p.Tyr1874=) c.1946C>T c.2133C>T (p.Tyr711=) c.*5342C>T (n.*5342C>T) c.*73C>T (n.*73C>T) c.489C>T (p.Tyr163=) c.1032C>T (p.Tyr344=) c.258C>T (p.Tyr86=) n.5695C>T n.5736C>T | ClinVar dbSNP |
17 | g.43045711G>T | CA003715 | BRCA1 | c.5556C>A (p.Tyr1852Ter) c.5559C>A (p.Tyr1853Ter) c.5433C>A (p.Tyr1811Ter) c.5553C>A (p.Tyr1851Ter) c.5481C>A (p.Tyr1827Ter) c.2247C>A (p.Tyr749Ter) c.2109C>A (p.Tyr703Ter) c.4671C>A (p.Tyr1557Ter) c.5436C>A (p.Tyr1812Ter) c.5625C>A (p.Tyr1875Ter) c.5418C>A (p.Tyr1806Ter) c.2121C>A (p.Tyr707Ter) n.1442C>A n.923C>A c.5622C>A (p.Tyr1874Ter) c.1946C>A c.2133C>A (p.Tyr711Ter) c.*5342C>A (n.*5342C>A) c.*73C>A (n.*73C>A) c.489C>A (p.Tyr163Ter) c.1032C>A (p.Tyr344Ter) c.258C>A (p.Tyr86Ter) n.5695C>A n.5736C>A | ClinVar dbSNP |