| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093082del | CA001635 | BRCA1 | n.2514del c.2450del (p.Gly817ValfsTer29) c.2324del (p.Gly775ValfsTer29) c.2447del (p.Gly816ValfsTer29) c.2372del (p.Gly791ValfsTer29) c.784+1663del (n.784+1663del) c.646+1663del (n.646+1663del) c.1562del (p.Gly521ValfsTer29) c.2327del (p.Gly776ValfsTer29) c.2309del (p.Gly770ValfsTer29) c.664+1663del (n.664+1663del) c.706+1663del (n.706+1663del) c.671-2049del (n.671-2049del) c.*2233del (n.*2233del) c.787+1663del (n.787+1663del) c.409+1663del (n.409+1663del) c.412+1663del (n.412+1663del) c.5-29130del (n.5-29130del) c.-43-18560del (n.-43-18560del) c.-99+32190del (n.-99+32190del) c.2327del (p.Gly776ValfsTer?) n.2586del n.2627del | ClinVar dbSNP COSMIC |
| 17 | g.43093082dup | CA2580094030 | BRCA1 | n.2514dup c.2450dup (p.Cys818LeufsTer5) c.2324dup (p.Cys776LeufsTer5) c.2447dup (p.Cys817LeufsTer5) c.2372dup (p.Cys792LeufsTer5) c.784+1663dup (n.784+1663dup) c.646+1663dup (n.646+1663dup) c.1562dup (p.Cys522LeufsTer5) c.2327dup (p.Cys777LeufsTer5) c.2309dup (p.Cys771LeufsTer5) c.664+1663dup (n.664+1663dup) c.706+1663dup (n.706+1663dup) c.671-2049dup (n.671-2049dup) c.*2233dup (n.*2233dup) c.787+1663dup (n.787+1663dup) c.409+1663dup (n.409+1663dup) c.412+1663dup (n.412+1663dup) c.5-29130dup (n.5-29130dup) c.-43-18560dup (n.-43-18560dup) c.-99+32190dup (n.-99+32190dup) n.2586dup n.2627dup | ClinVar dbSNP |