| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093293dup | CA001499 | BRCA1 | n.2305dup c.2241dup (p.Lys748GlnfsTer14) c.2115dup (p.Lys706GlnfsTer14) c.2238dup (p.Lys747GlnfsTer14) c.2163dup (p.Lys722GlnfsTer14) c.784+1454dup (n.784+1454dup) c.646+1454dup (n.646+1454dup) c.1353dup (p.Lys452GlnfsTer14) c.2118dup (p.Lys707GlnfsTer14) c.2100dup (p.Lys701GlnfsTer14) c.664+1454dup (n.664+1454dup) c.706+1454dup (n.706+1454dup) c.671-2258dup (n.671-2258dup) c.*2024dup (n.*2024dup) c.787+1454dup (n.787+1454dup) c.409+1454dup (n.409+1454dup) c.412+1454dup (n.412+1454dup) c.5-29339dup (n.5-29339dup) c.-43-18769dup (n.-43-18769dup) c.-99+31981dup (n.-99+31981dup) n.2377dup n.2418dup | ClinVar dbSNP |
| 17 | g.43093293del | CA001500 | BRCA1 | n.2305del c.2241del (p.Asp749IlefsTer4) c.2115del (p.Asp707IlefsTer4) c.2238del (p.Asp748IlefsTer4) c.2163del (p.Asp723IlefsTer4) c.784+1454del (n.784+1454del) c.646+1454del (n.646+1454del) c.1353del (p.Asp453IlefsTer4) c.2118del (p.Asp708IlefsTer4) c.2100del (p.Asp702IlefsTer4) c.664+1454del (n.664+1454del) c.706+1454del (n.706+1454del) c.671-2258del (n.671-2258del) c.*2024del (n.*2024del) c.787+1454del (n.787+1454del) c.409+1454del (n.409+1454del) c.412+1454del (n.412+1454del) c.5-29339del (n.5-29339del) c.-43-18769del (n.-43-18769del) c.-99+31981del (n.-99+31981del) n.2377del n.2418del | ClinVar dbSNP gnomAD v4 |