| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43094748A>T | CA10600512 | BRCA1 | n.847T>A c.783T>A (p.Tyr261Ter) c.657T>A (p.Tyr219Ter) c.780T>A (p.Tyr260Ter) c.705T>A (p.Tyr235Ter) c.642T>A (p.Tyr214Ter) c.-106T>A (n.-106T>A) c.660T>A (p.Tyr220Ter) c.702T>A (p.Tyr234Ter) c.*791T>A (n.*791T>A) c.*657T>A (n.*657T>A) c.670+1098T>A (n.670+1098T>A) c.134T>A c.*566T>A (n.*566T>A) c.380T>A c.405T>A (p.Tyr135Ter) c.408T>A (p.Tyr136Ter) c.*719T>A (n.*719T>A) c.4+30434T>A (n.4+30434T>A) c.-43-20227T>A (n.-43-20227T>A) c.-99+30523T>A (n.-99+30523T>A) n.919T>A n.960T>A | dbSNP |
| 17 | g.43094748A>C | CA003865 | BRCA1 | n.847T>G c.783T>G (p.Tyr261Ter) c.657T>G (p.Tyr219Ter) c.780T>G (p.Tyr260Ter) c.705T>G (p.Tyr235Ter) c.642T>G (p.Tyr214Ter) c.-106T>G (n.-106T>G) c.660T>G (p.Tyr220Ter) c.702T>G (p.Tyr234Ter) c.*791T>G (n.*791T>G) c.*657T>G (n.*657T>G) c.670+1098T>G (n.670+1098T>G) c.134T>G c.*566T>G (n.*566T>G) c.380T>G c.405T>G (p.Tyr135Ter) c.408T>G (p.Tyr136Ter) c.*719T>G (n.*719T>G) c.4+30434T>G (n.4+30434T>G) c.-43-20227T>G (n.-43-20227T>G) c.-99+30523T>G (n.-99+30523T>G) n.919T>G n.960T>G | ClinVar dbSNP |
| 17 | g.43094748A= | CA2260785246 | BRCA1 | n.847T= c.783T= (p.Tyr261=) c.657T= (p.Tyr219=) c.780T= (p.Tyr260=) c.705T= (p.Tyr235=) c.642T= (p.Tyr214=) c.-106T= (n.-106T=) c.660T= (p.Tyr220=) c.702T= (p.Tyr234=) c.*791T= (n.*791T=) c.*657T= (n.*657T=) c.670+1098T= (n.670+1098T=) c.134T= c.*566T= (n.*566T=) c.380T= c.405T= (p.Tyr135=) c.408T= (p.Tyr136=) c.*719T= (n.*719T=) c.4+30434T= (n.4+30434T=) c.-43-20227T= (n.-43-20227T=) c.-99+30523T= (n.-99+30523T=) n.919T= n.960T= | dbSNP |