| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093462_43093463del | CA001370 | BRCA1 | n.2134_2135del c.2070_2071del (p.Arg691ThrfsTer2) c.1944_1945del (p.Arg649ThrfsTer2) c.2067_2068del (p.Arg690ThrfsTer2) c.1992_1993del (p.Arg665ThrfsTer2) c.784+1283_784+1284del (n.784+1283_784+1284del) c.646+1283_646+1284del (n.646+1283_646+1284del) c.1182_1183del (p.Arg395ThrfsTer2) c.1947_1948del (p.Arg650ThrfsTer2) c.1929_1930del (p.Arg644ThrfsTer2) c.664+1283_664+1284del (n.664+1283_664+1284del) c.706+1283_706+1284del (n.706+1283_706+1284del) c.670+2385_670+2386del (n.670+2385_670+2386del) c.*1853_*1854del (n.*1853_*1854del) c.787+1283_787+1284del (n.787+1283_787+1284del) c.409+1283_409+1284del (n.409+1283_409+1284del) c.412+1283_412+1284del (n.412+1283_412+1284del) c.5-29510_5-29509del (n.5-29510_5-29509del) c.-43-18940_-43-18939del (n.-43-18940_-43-18939del) c.-99+31810_-99+31811del (n.-99+31810_-99+31811del) n.2206_2207del n.2247_2248del | ClinVar dbSNP |
| 17 | g.43093463del | CA001367 | BRCA1 | n.2135del c.2071del (p.Arg691AspfsTer10) c.1945del (p.Arg649AspfsTer10) c.2068del (p.Arg690AspfsTer10) c.1993del (p.Arg665AspfsTer10) c.784+1284del (n.784+1284del) c.646+1284del (n.646+1284del) c.1183del (p.Arg395AspfsTer10) c.1948del (p.Arg650AspfsTer10) c.1930del (p.Arg644AspfsTer10) c.664+1284del (n.664+1284del) c.706+1284del (n.706+1284del) c.670+2386del (n.670+2386del) c.*1854del (n.*1854del) c.787+1284del (n.787+1284del) c.409+1284del (n.409+1284del) c.412+1284del (n.412+1284del) c.5-29509del (n.5-29509del) c.-43-18939del (n.-43-18939del) c.-99+31811del (n.-99+31811del) n.2207del n.2248del | ClinVar dbSNP gnomAD v4 |