| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093581dup | CA001290 | BRCA1 | n.2016dup c.1952dup (p.Lys652GlufsTer21) c.1826dup (p.Lys610GlufsTer21) c.1949dup (p.Lys651GlufsTer21) c.1874dup (p.Lys626GlufsTer21) c.784+1165dup (n.784+1165dup) c.646+1165dup (n.646+1165dup) c.1064dup (p.Lys356GlufsTer21) c.1829dup (p.Lys611GlufsTer21) c.1811dup (p.Lys605GlufsTer21) c.664+1165dup (n.664+1165dup) c.706+1165dup (n.706+1165dup) c.670+2267dup (n.670+2267dup) c.1303dup c.*1735dup (n.*1735dup) c.787+1165dup (n.787+1165dup) c.409+1165dup (n.409+1165dup) c.412+1165dup (n.412+1165dup) c.5-29628dup (n.5-29628dup) c.-43-19058dup (n.-43-19058dup) c.-99+31692dup (n.-99+31692dup) n.2088dup n.2129dup | ClinVar dbSNP |
| 17 | g.43093581del | CA001291 | BRCA1 | n.2016del c.1952del (p.Lys651ArgfsTer?) c.1826del (p.Lys609ArgfsTer?) c.1949del (p.Lys650ArgfsTer?) c.1874del (p.Lys625ArgfsTer?) c.784+1165del (n.784+1165del) c.646+1165del (n.646+1165del) c.1064del (p.Lys355ArgfsTer?) c.1829del (p.Lys610ArgfsTer?) c.1811del (p.Lys604ArgfsTer?) c.664+1165del (n.664+1165del) c.706+1165del (n.706+1165del) c.670+2267del (n.670+2267del) c.1303del c.*1735del (n.*1735del) c.787+1165del (n.787+1165del) c.409+1165del (n.409+1165del) c.412+1165del (n.412+1165del) c.5-29628del (n.5-29628del) c.-43-19058del (n.-43-19058del) c.-99+31692del (n.-99+31692del) n.2088del n.2129del | ClinVar dbSNP |