| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093315_43093316del | CA001485 | BRCA1 | n.2280_2281del c.2216_2217del (p.Lys739SerfsTer3) c.2090_2091del (p.Lys697SerfsTer3) c.2213_2214del (p.Lys738SerfsTer3) c.2138_2139del (p.Lys713SerfsTer3) c.784+1429_784+1430del (n.784+1429_784+1430del) c.646+1429_646+1430del (n.646+1429_646+1430del) c.1328_1329del (p.Lys443SerfsTer3) c.2093_2094del (p.Lys698SerfsTer3) c.2075_2076del (p.Lys692SerfsTer3) c.664+1429_664+1430del (n.664+1429_664+1430del) c.706+1429_706+1430del (n.706+1429_706+1430del) c.671-2283_671-2282del (n.671-2283_671-2282del) c.*1999_*2000del (n.*1999_*2000del) c.787+1429_787+1430del (n.787+1429_787+1430del) c.409+1429_409+1430del (n.409+1429_409+1430del) c.412+1429_412+1430del (n.412+1429_412+1430del) c.5-29364_5-29363del (n.5-29364_5-29363del) c.-43-18794_-43-18793del (n.-43-18794_-43-18793del) c.-99+31956_-99+31957del (n.-99+31956_-99+31957del) n.2352_2353del n.2393_2394del | ClinVar dbSNP |
| 17 | g.43093316dup | CA001487 | BRCA1 | n.2281dup c.2217dup (p.Val740SerfsTer3) c.2091dup (p.Val698SerfsTer3) c.2214dup (p.Val739SerfsTer3) c.2139dup (p.Val714SerfsTer3) c.784+1430dup (n.784+1430dup) c.646+1430dup (n.646+1430dup) c.1329dup (p.Val444SerfsTer3) c.2094dup (p.Val699SerfsTer3) c.2076dup (p.Val693SerfsTer3) c.664+1430dup (n.664+1430dup) c.706+1430dup (n.706+1430dup) c.671-2282dup (n.671-2282dup) c.*2000dup (n.*2000dup) c.787+1430dup (n.787+1430dup) c.409+1430dup (n.409+1430dup) c.412+1430dup (n.412+1430dup) c.5-29363dup (n.5-29363dup) c.-43-18793dup (n.-43-18793dup) c.-99+31957dup (n.-99+31957dup) n.2353dup n.2394dup | ClinVar dbSNP |