| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43092973dup | CA001684 | BRCA1 | n.2622dup c.2558dup (p.Asp853GlufsTer?) c.2432dup (p.Asp811GlufsTer?) c.2555dup (p.Asp852GlufsTer?) c.2480dup (p.Asp827GlufsTer?) c.784+1771dup (n.784+1771dup) c.646+1771dup (n.646+1771dup) c.1670dup (p.Asp557GlufsTer?) c.2435dup (p.Asp812GlufsTer?) c.2417dup (p.Asp806GlufsTer?) c.664+1771dup (n.664+1771dup) c.706+1771dup (n.706+1771dup) c.671-1941dup (n.671-1941dup) c.*2341dup (n.*2341dup) c.787+1771dup (n.787+1771dup) c.409+1771dup (n.409+1771dup) c.412+1771dup (n.412+1771dup) c.5-29022dup (n.5-29022dup) c.-43-18452dup (n.-43-18452dup) c.-99+32298dup (n.-99+32298dup) n.2694dup n.2735dup | ClinVar dbSNP |
| 17 | g.43092973T= | CA2260783474 | BRCA1 | n.2622A= c.2558A= (p.Asp853=) c.2432A= (p.Asp811=) c.2555A= (p.Asp852=) c.2480A= (p.Asp827=) c.784+1771A= (n.784+1771A=) c.646+1771A= (n.646+1771A=) c.1670A= (p.Asp557=) c.2435A= (p.Asp812=) c.2417A= (p.Asp806=) c.664+1771A= (n.664+1771A=) c.706+1771A= (n.706+1771A=) c.671-1941A= (n.671-1941A=) c.*2341A= (n.*2341A=) c.787+1771A= (n.787+1771A=) c.409+1771A= (n.409+1771A=) c.412+1771A= (n.412+1771A=) c.5-29022A= (n.5-29022A=) c.-43-18452A= (n.-43-18452A=) c.-99+32298A= (n.-99+32298A=) n.2694A= n.2735A= | dbSNP |