| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093427dup | CA001393 | BRCA1 | n.2169dup c.2105dup (p.Leu702PhefsTer10) c.1979dup (p.Leu660PhefsTer10) c.2102dup (p.Leu701PhefsTer10) c.2027dup (p.Leu676PhefsTer10) c.784+1318dup (n.784+1318dup) c.646+1318dup (n.646+1318dup) c.1217dup (p.Leu406PhefsTer10) c.1982dup (p.Leu661PhefsTer10) c.1964dup (p.Leu655PhefsTer10) c.664+1318dup (n.664+1318dup) c.706+1318dup (n.706+1318dup) c.671-2394dup (n.671-2394dup) c.*1888dup (n.*1888dup) c.787+1318dup (n.787+1318dup) c.409+1318dup (n.409+1318dup) c.412+1318dup (n.412+1318dup) c.5-29475dup (n.5-29475dup) c.-43-18905dup (n.-43-18905dup) c.-99+31845dup (n.-99+31845dup) n.2241dup n.2282dup | ClinVar dbSNP |
| 17 | g.43093427del | CA10589893 | BRCA1 | n.2169del c.2105del (p.Leu702Ter) c.1979del (p.Leu660Ter) c.2102del (p.Leu701Ter) c.2027del (p.Leu676Ter) c.784+1318del (n.784+1318del) c.646+1318del (n.646+1318del) c.1217del (p.Leu406Ter) c.1982del (p.Leu661Ter) c.1964del (p.Leu655Ter) c.664+1318del (n.664+1318del) c.706+1318del (n.706+1318del) c.671-2394del (n.671-2394del) c.*1888del (n.*1888del) c.787+1318del (n.787+1318del) c.409+1318del (n.409+1318del) c.412+1318del (n.412+1318del) c.5-29475del (n.5-29475del) c.-43-18905del (n.-43-18905del) c.-99+31845del (n.-99+31845del) n.2241del n.2282del | ClinVar dbSNP |