| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43094756del | CA003862 | BRCA1 | n.839del c.775del (p.Glu259LysfsTer?) c.649del (p.Glu217LysfsTer?) c.772del (p.Glu258LysfsTer?) c.697del (p.Glu233LysfsTer?) c.634del (p.Glu212LysfsTer?) c.-114del (n.-114del) c.652del (p.Glu218LysfsTer?) c.694del (p.Glu232LysfsTer?) c.*783del (n.*783del) c.*649del (n.*649del) c.670+1090del (n.670+1090del) c.126del c.*558del (n.*558del) c.372del c.397del (p.Glu133LysfsTer?) c.400del (p.Glu134LysfsTer?) c.*711del (n.*711del) c.4+30426del (n.4+30426del) c.-43-20235del (n.-43-20235del) c.-99+30515del (n.-99+30515del) n.911del n.952del | ClinVar dbSNP |
| 17 | g.43094756C= | CA2581284815 | BRCA1 | n.839G= c.775G= (p.Glu259=) c.649G= (p.Glu217=) c.772G= (p.Glu258=) c.697G= (p.Glu233=) c.634G= (p.Glu212=) c.-114G= (n.-114G=) c.652G= (p.Glu218=) c.694G= (p.Glu232=) c.*783G= (n.*783G=) c.*649G= (n.*649G=) c.670+1090G= (n.670+1090G=) c.126G= c.*558G= (n.*558G=) c.372G= c.397G= (p.Glu133=) c.400G= (p.Glu134=) c.*711G= (n.*711G=) c.4+30426G= (n.4+30426G=) c.-43-20235G= (n.-43-20235G=) c.-99+30515G= (n.-99+30515G=) n.911G= n.952G= | dbSNP dbSNP |