| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43092427del | CA002034 | BRCA1 | n.3172del c.3108del (p.Phe1036LeufsTer12) c.2982del (p.Phe994LeufsTer12) c.3105del (p.Phe1035LeufsTer12) c.3030del (p.Phe1010LeufsTer12) c.785-1391del (n.785-1391del) c.647-1391del (n.647-1391del) c.2220del (p.Phe740LeufsTer12) c.2985del (p.Phe995LeufsTer12) c.2967del (p.Phe989LeufsTer12) c.665-1391del (n.665-1391del) c.707-1391del (n.707-1391del) c.671-1391del (n.671-1391del) c.*2891del (n.*2891del) c.788-1391del (n.788-1391del) c.410-1391del (n.410-1391del) c.413-1391del (n.413-1391del) c.5-28472del (n.5-28472del) c.-43-17902del (n.-43-17902del) c.-99+32848del (n.-99+32848del) n.3244del n.3285del | ClinVar dbSNP |
| 17 | g.43092427dup | CA002031 | BRCA1 | n.3172dup c.3108dup (p.Lys1037Ter) c.2982dup (p.Lys995Ter) c.3105dup (p.Lys1036Ter) c.3030dup (p.Lys1011Ter) c.785-1391dup (n.785-1391dup) c.647-1391dup (n.647-1391dup) c.2220dup (p.Lys741Ter) c.2985dup (p.Lys996Ter) c.2967dup (p.Lys990Ter) c.665-1391dup (n.665-1391dup) c.707-1391dup (n.707-1391dup) c.671-1391dup (n.671-1391dup) c.*2891dup (n.*2891dup) c.788-1391dup (n.788-1391dup) c.410-1391dup (n.410-1391dup) c.413-1391dup (n.413-1391dup) c.5-28472dup (n.5-28472dup) c.-43-17902dup (n.-43-17902dup) c.-99+32848dup (n.-99+32848dup) n.3244dup n.3285dup | ClinVar dbSNP |
| 17 | g.43092426_43092427del | CA2260782931 | BRCA1 | n.3171_3172del c.3107_3108del (p.Phe1036Ter) c.2981_2982del (p.Phe994Ter) c.3104_3105del (p.Phe1035Ter) c.3029_3030del (p.Phe1010Ter) c.785-1392_785-1391del (n.785-1392_785-1391del) c.647-1392_647-1391del (n.647-1392_647-1391del) c.2219_2220del (p.Phe740Ter) c.2984_2985del (p.Phe995Ter) c.2966_2967del (p.Phe989Ter) c.665-1392_665-1391del (n.665-1392_665-1391del) c.707-1392_707-1391del (n.707-1392_707-1391del) c.671-1392_671-1391del (n.671-1392_671-1391del) c.*2890_*2891del (n.*2890_*2891del) c.788-1392_788-1391del (n.788-1392_788-1391del) c.410-1392_410-1391del (n.410-1392_410-1391del) c.413-1392_413-1391del (n.413-1392_413-1391del) c.5-28473_5-28472del (n.5-28473_5-28472del) c.-43-17903_-43-17902del (n.-43-17903_-43-17902del) c.-99+32847_-99+32848del (n.-99+32847_-99+32848del) n.3243_3244del n.3284_3285del | dbSNP |