| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43051077dup | CA003472 | BRCA1 | c.5316dup (p.Asn1773GlnfsTer?) c.5319dup (p.Asn1774GlnfsTer?) c.5193dup (p.Asn1732GlnfsTer?) c.5313dup (p.Asn1772GlnfsTer?) c.5241dup (p.Asn1748GlnfsTer?) c.2007dup (p.Asn670GlnfsTer?) c.1869dup (p.Asn624GlnfsTer?) c.4431dup (p.Asn1478GlnfsTer?) c.5196dup (p.Asn1733GlnfsTer?) c.5385dup (p.Asn1796GlnfsTer?) c.5178dup (p.Asn1727GlnfsTer?) c.1881dup (p.Asn628GlnfsTer?) c.5382dup (p.Asn1795GlnfsTer?) c.1706dup c.1893dup (p.Asn632GlnfsTer?) c.*5102dup (n.*5102dup) c.249dup (p.Asn84GlnfsTer?) c.792dup (p.Asn265GlnfsTer?) c.-98-886dup (n.-98-886dup) n.5455dup n.5496dup | ClinVar dbSNP |
| 17 | g.43051077del | CA2733641847 | BRCA1 | c.5316del (p.Asn1773ThrfsTer19) c.5319del (p.Asn1774ThrfsTer19) c.5193del (p.Asn1732ThrfsTer19) c.5313del (p.Asn1772ThrfsTer19) c.5241del (p.Asn1748ThrfsTer19) c.2007del (p.Asn670ThrfsTer19) c.1869del (p.Asn624ThrfsTer19) c.4431del (p.Asn1478ThrfsTer19) c.5196del (p.Asn1733ThrfsTer19) c.5385del (p.Asn1796ThrfsTer19) c.5178del (p.Asn1727ThrfsTer19) c.1881del (p.Asn628ThrfsTer19) c.5382del (p.Asn1795ThrfsTer19) c.1706del c.1893del (p.Asn632ThrfsTer19) c.*5102del (n.*5102del) c.2007del (p.Asn670ThrfsTer?) c.249del (p.Asn84ThrfsTer19) c.792del (p.Asn265ThrfsTer19) c.-98-886del (n.-98-886del) n.5455del n.5496del | dbSNP |