| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045749del | CA003695 | BRCA1 | c.5518del (p.Ser1840ValfsTer2) c.5521del (p.Ser1841ValfsTer2) c.5395del (p.Ser1799ValfsTer2) c.5515del (p.Ser1839ValfsTer2) c.5443del (p.Ser1815ValfsTer2) c.2209del (p.Ser737ValfsTer2) c.2071del (p.Ser691ValfsTer2) c.4633del (p.Ser1545ValfsTer2) c.5398del (p.Ser1800ValfsTer2) c.5587del (p.Ser1863ValfsTer2) c.5380del (p.Ser1794ValfsTer2) c.2083del (p.Ser695ValfsTer2) n.1404del n.885del c.5584del (p.Ser1862ValfsTer2) c.1908del c.2095del (p.Ser699ValfsTer2) c.*5304del (n.*5304del) c.*35del (n.*35del) c.451del (p.Ser151ValfsTer2) c.994del (p.Ser332ValfsTer2) c.220del (p.Ser74ValfsTer2) n.5657del n.5698del | ClinVar dbSNP |
| 17 | g.43045749T= | CA2260761093 | BRCA1 | c.5518A= (p.Ser1840=) c.5521A= (p.Ser1841=) c.5395A= (p.Ser1799=) c.5515A= (p.Ser1839=) c.5443A= (p.Ser1815=) c.2209A= (p.Ser737=) c.2071A= (p.Ser691=) c.4633A= (p.Ser1545=) c.5398A= (p.Ser1800=) c.5587A= (p.Ser1863=) c.5380A= (p.Ser1794=) c.2083A= (p.Ser695=) n.1404A= n.885A= c.5584A= (p.Ser1862=) c.1908A= c.2095A= (p.Ser699=) c.*5304A= (n.*5304A=) c.*35A= (n.*35A=) c.451A= (p.Ser151=) c.994A= (p.Ser332=) c.220A= (p.Ser74=) n.5657A= n.5698A= | dbSNP dbSNP |