| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093612del | CA001268 | BRCA1 | n.1985del c.1921del (p.Ile641LeufsTer10) c.1795del (p.Ile599LeufsTer10) c.1918del (p.Ile640LeufsTer10) c.1843del (p.Ile615LeufsTer10) c.784+1134del (n.784+1134del) c.646+1134del (n.646+1134del) c.1033del (p.Ile345LeufsTer10) c.1798del (p.Ile600LeufsTer10) c.1780del (p.Ile594LeufsTer10) c.664+1134del (n.664+1134del) c.706+1134del (n.706+1134del) c.1780del (p.Ile594LeufsTer?) c.670+2236del (n.670+2236del) c.1272del c.*1704del (n.*1704del) c.787+1134del (n.787+1134del) c.1921del (p.Ile641LeufsTer?) c.1843del (p.Ile615LeufsTer?) c.409+1134del (n.409+1134del) c.412+1134del (n.412+1134del) c.5-29659del (n.5-29659del) c.-43-19089del (n.-43-19089del) c.-99+31661del (n.-99+31661del) n.2057del n.2098del | ClinVar dbSNP |
| 17 | g.43093612dup | CA001266 | BRCA1 | n.1985dup c.1921dup (p.Ile641AsnfsTer2) c.1795dup (p.Ile599AsnfsTer2) c.1918dup (p.Ile640AsnfsTer2) c.1843dup (p.Ile615AsnfsTer2) c.784+1134dup (n.784+1134dup) c.646+1134dup (n.646+1134dup) c.1033dup (p.Ile345AsnfsTer2) c.1798dup (p.Ile600AsnfsTer2) c.1780dup (p.Ile594AsnfsTer2) c.664+1134dup (n.664+1134dup) c.706+1134dup (n.706+1134dup) c.670+2236dup (n.670+2236dup) c.1272dup c.*1704dup (n.*1704dup) c.787+1134dup (n.787+1134dup) c.409+1134dup (n.409+1134dup) c.412+1134dup (n.412+1134dup) c.5-29659dup (n.5-29659dup) c.-43-19089dup (n.-43-19089dup) c.-99+31661dup (n.-99+31661dup) n.2057dup n.2098dup | ClinVar dbSNP |