| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093376dup | CA267881 | BRCA1 | n.2221dup c.2157dup (p.Glu720ArgfsTer6) c.2031dup (p.Glu678ArgfsTer6) c.2154dup (p.Glu719ArgfsTer6) c.2079dup (p.Glu694ArgfsTer6) c.784+1370dup (n.784+1370dup) c.646+1370dup (n.646+1370dup) c.1269dup (p.Glu424ArgfsTer6) c.2034dup (p.Glu679ArgfsTer6) c.2016dup (p.Glu673ArgfsTer6) c.664+1370dup (n.664+1370dup) c.706+1370dup (n.706+1370dup) c.671-2342dup (n.671-2342dup) c.*1940dup (n.*1940dup) c.787+1370dup (n.787+1370dup) c.409+1370dup (n.409+1370dup) c.412+1370dup (n.412+1370dup) c.5-29423dup (n.5-29423dup) c.-43-18853dup (n.-43-18853dup) c.-99+31897dup (n.-99+31897dup) n.2293dup n.2334dup | ClinVar dbSNP |
| 17 | g.43093376del | CA2573154054 | BRCA1 | n.2221del c.2157del (p.Glu720AsnfsTer16) c.2031del (p.Glu678AsnfsTer16) c.2154del (p.Glu719AsnfsTer16) c.2079del (p.Glu694AsnfsTer16) c.784+1370del (n.784+1370del) c.646+1370del (n.646+1370del) c.1269del (p.Glu424AsnfsTer16) c.2034del (p.Glu679AsnfsTer16) c.2016del (p.Glu673AsnfsTer16) c.664+1370del (n.664+1370del) c.706+1370del (n.706+1370del) c.671-2342del (n.671-2342del) c.*1940del (n.*1940del) c.787+1370del (n.787+1370del) c.409+1370del (n.409+1370del) c.412+1370del (n.412+1370del) c.5-29423del (n.5-29423del) c.-43-18853del (n.-43-18853del) c.-99+31897del (n.-99+31897del) n.2293del n.2334del | ClinVar dbSNP |