Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43047692dup | CA10589591 | BRCA1 | c.5416dup (p.Ile1806AsnfsTer23) c.5419dup (p.Ile1807AsnfsTer23) c.5293dup (p.Ile1765AsnfsTer23) c.5413dup (p.Ile1805AsnfsTer23) c.5341dup (p.Ile1781AsnfsTer23) c.2107dup (p.Ile703AsnfsTer23) c.1969dup (p.Ile657AsnfsTer23) c.4531dup (p.Ile1511AsnfsTer23) c.5296dup (p.Ile1766AsnfsTer23) c.5485dup (p.Ile1829AsnfsTer23) c.5278dup (p.Ile1760AsnfsTer23) c.1981dup (p.Ile661AsnfsTer23) n.1302dup n.783dup c.5482dup (p.Ile1828AsnfsTer23) c.1806dup c.1993dup (p.Ile665AsnfsTer23) c.*5202dup (n.*5202dup) c.2033dup (p.Asn678LysfsTer28) c.349dup (p.Ile117AsnfsTer23) c.892dup (p.Ile298AsnfsTer23) c.118dup (p.Ile40AsnfsTer23) n.5555dup n.5596dup | ClinVar dbSNP |
17 | g.43047692del | CA003582 | BRCA1 | c.5416del (p.Ile1806LeufsTer27) c.5419del (p.Ile1807LeufsTer27) c.5293del (p.Ile1765LeufsTer27) c.5413del (p.Ile1805LeufsTer27) c.5341del (p.Ile1781LeufsTer27) c.2107del (p.Ile703LeufsTer27) c.1969del (p.Ile657LeufsTer27) c.4531del (p.Ile1511LeufsTer27) c.5296del (p.Ile1766LeufsTer27) c.5485del (p.Ile1829LeufsTer27) c.5278del (p.Ile1760LeufsTer27) c.1981del (p.Ile661LeufsTer27) n.1302del n.783del c.5482del (p.Ile1828LeufsTer27) c.1806del c.1993del (p.Ile665LeufsTer27) c.*5202del (n.*5202del) c.2033del (p.Asn678IlefsTer?) c.349del (p.Ile117LeufsTer27) c.892del (p.Ile298LeufsTer27) c.118del (p.Ile40LeufsTer27) n.5555del n.5596del | ClinVar dbSNP |