| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43092917del | CA10589831 | BRCA1 | n.2681del c.2617del (p.Ser873GlnfsTer20) c.2491del (p.Ser831GlnfsTer20) c.2614del (p.Ser872GlnfsTer20) c.2539del (p.Ser847GlnfsTer20) c.784+1830del (n.784+1830del) c.646+1830del (n.646+1830del) c.1729del (p.Ser577GlnfsTer20) c.2494del (p.Ser832GlnfsTer20) c.2476del (p.Ser826GlnfsTer20) c.664+1830del (n.664+1830del) c.706+1830del (n.706+1830del) c.671-1882del (n.671-1882del) c.*2400del (n.*2400del) c.787+1830del (n.787+1830del) c.409+1830del (n.409+1830del) c.412+1830del (n.412+1830del) c.5-28963del (n.5-28963del) c.-43-18393del (n.-43-18393del) c.-99+32357del (n.-99+32357del) n.2753del n.2794del | ClinVar dbSNP |
| 17 | g.43092917dup | CA001723 | BRCA1 | n.2681dup c.2617dup (p.Ser873PhefsTer30) c.2491dup (p.Ser831PhefsTer30) c.2614dup (p.Ser872PhefsTer30) c.2539dup (p.Ser847PhefsTer30) c.784+1830dup (n.784+1830dup) c.646+1830dup (n.646+1830dup) c.1729dup (p.Ser577PhefsTer30) c.2494dup (p.Ser832PhefsTer30) c.2476dup (p.Ser826PhefsTer30) c.664+1830dup (n.664+1830dup) c.706+1830dup (n.706+1830dup) c.671-1882dup (n.671-1882dup) c.*2400dup (n.*2400dup) c.787+1830dup (n.787+1830dup) c.409+1830dup (n.409+1830dup) c.412+1830dup (n.412+1830dup) c.5-28963dup (n.5-28963dup) c.-43-18393dup (n.-43-18393dup) c.-99+32357dup (n.-99+32357dup) n.2753dup n.2794dup | ClinVar dbSNP |