Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32380066del | CA026018 | BRCA2 | c.9177del (p.Lys3059AsnfsTer3) c.*544del (n.*544del) c.8808del (p.Lys2936AsnfsTer3) c.*739del (n.*739del) c.9126del (p.Lys3042AsnfsTer3) c.1593del (p.Lys531AsnfsTer3) n.1304del c.9185del (n.9185del) c.2055del c.60del (p.Lys20AsnfsTer3) c.134del c.9081del (p.Lys3027AsnfsTer3) | ClinVar dbSNP |
13 | g.32380066dup | CA1139663166 | BRCA2 | c.9177dup (p.Phe3060IlefsTer12) c.*544dup (n.*544dup) c.8808dup (p.Phe2937IlefsTer12) c.*739dup (n.*739dup) c.9126dup (p.Phe3043IlefsTer12) c.1593dup (p.Phe532IlefsTer12) n.1304dup c.9185dup (n.9185dup) c.2055dup c.60dup (p.Phe21IlefsTer12) c.134dup c.9081dup (p.Phe3028IlefsTer12) | ClinVar dbSNP |