| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093295dup | CA001497 | BRCA1 | n.2300dup c.2236dup (p.Asp746GlyfsTer16) c.2110dup (p.Asp704GlyfsTer16) c.2233dup (p.Asp745GlyfsTer16) c.2158dup (p.Asp720GlyfsTer16) c.784+1449dup (n.784+1449dup) c.646+1449dup (n.646+1449dup) c.1348dup (p.Asp450GlyfsTer16) c.2113dup (p.Asp705GlyfsTer16) c.2095dup (p.Asp699GlyfsTer16) c.664+1449dup (n.664+1449dup) c.706+1449dup (n.706+1449dup) c.671-2263dup (n.671-2263dup) c.*2019dup (n.*2019dup) c.787+1449dup (n.787+1449dup) c.409+1449dup (n.409+1449dup) c.412+1449dup (n.412+1449dup) c.5-29344dup (n.5-29344dup) c.-43-18774dup (n.-43-18774dup) c.-99+31976dup (n.-99+31976dup) n.2372dup n.2413dup | ClinVar dbSNP |
| 17 | g.43093295C= | CA2260783799 | BRCA1 | n.2300G= c.2236G= (p.Asp746=) c.2110G= (p.Asp704=) c.2233G= (p.Asp745=) c.2158G= (p.Asp720=) c.784+1449G= (n.784+1449G=) c.646+1449G= (n.646+1449G=) c.1348G= (p.Asp450=) c.2113G= (p.Asp705=) c.2095G= (p.Asp699=) c.664+1449G= (n.664+1449G=) c.706+1449G= (n.706+1449G=) c.671-2263G= (n.671-2263G=) c.*2019G= (n.*2019G=) c.787+1449G= (n.787+1449G=) c.409+1449G= (n.409+1449G=) c.412+1449G= (n.412+1449G=) c.5-29344G= (n.5-29344G=) c.-43-18774G= (n.-43-18774G=) c.-99+31976G= (n.-99+31976G=) n.2372G= n.2413G= | dbSNP dbSNP |