| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43074519G>C | CA002884 | BRCA1 | c.4484C>G (p.Ser1495Ter) c.4487C>G (p.Ser1496Ter) c.4361C>G (p.Ser1454Ter) c.4481C>G (p.Ser1494Ter) c.4409C>G (p.Ser1470Ter) c.1175C>G (p.Ser392Ter) c.1037C>G (p.Ser346Ter) c.3599C>G (p.Ser1200Ter) c.4364C>G (p.Ser1455Ter) c.4553C>G (p.Ser1518Ter) c.4346C>G (p.Ser1449Ter) c.1049C>G (p.Ser350Ter) c.1094C>G (p.Ser365Ter) c.4550C>G (p.Ser1517Ter) c.874C>G c.1061C>G (p.Ser354Ter) c.*4270C>G (n.*4270C>G) c.800C>G (p.Ser267Ter) c.5-10568C>G (n.5-10568C>G) c.-41C>G (n.-41C>G) c.-98-24329C>G (n.-98-24329C>G) n.4623C>G n.4664C>G | ClinVar dbSNP |
| 17 | g.43074519G>T | CA002883 | BRCA1 | c.4484C>A (p.Ser1495Ter) c.4487C>A (p.Ser1496Ter) c.4361C>A (p.Ser1454Ter) c.4481C>A (p.Ser1494Ter) c.4409C>A (p.Ser1470Ter) c.1175C>A (p.Ser392Ter) c.1037C>A (p.Ser346Ter) c.3599C>A (p.Ser1200Ter) c.4364C>A (p.Ser1455Ter) c.4553C>A (p.Ser1518Ter) c.4346C>A (p.Ser1449Ter) c.1049C>A (p.Ser350Ter) c.1094C>A (p.Ser365Ter) c.4550C>A (p.Ser1517Ter) c.874C>A c.1061C>A (p.Ser354Ter) c.*4270C>A (n.*4270C>A) c.800C>A (p.Ser267Ter) c.5-10568C>A (n.5-10568C>A) c.-41C>A (n.-41C>A) c.-98-24329C>A (n.-98-24329C>A) n.4623C>A n.4664C>A | ClinVar dbSNP |