| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43092338dup | CA002078 | BRCA1 | n.3257dup c.3193dup (p.Asp1065GlyfsTer2) c.3067dup (p.Asp1023GlyfsTer2) c.3190dup (p.Asp1064GlyfsTer2) c.3115dup (p.Asp1039GlyfsTer2) c.785-1306dup (n.785-1306dup) c.647-1306dup (n.647-1306dup) c.2305dup (p.Asp769GlyfsTer2) c.3070dup (p.Asp1024GlyfsTer2) c.3052dup (p.Asp1018GlyfsTer2) c.665-1306dup (n.665-1306dup) c.707-1306dup (n.707-1306dup) c.671-1306dup (n.671-1306dup) c.*2976dup (n.*2976dup) c.788-1306dup (n.788-1306dup) c.410-1306dup (n.410-1306dup) c.413-1306dup (n.413-1306dup) c.5-28387dup (n.5-28387dup) c.-43-17817dup (n.-43-17817dup) c.-99+32933dup (n.-99+32933dup) n.3329dup n.3370dup | ClinVar dbSNP |
| 17 | g.43092338C= | CA2260782840 | BRCA1 | n.3257G= c.3193G= (p.Asp1065=) c.3067G= (p.Asp1023=) c.3190G= (p.Asp1064=) c.3115G= (p.Asp1039=) c.785-1306G= (n.785-1306G=) c.647-1306G= (n.647-1306G=) c.2305G= (p.Asp769=) c.3070G= (p.Asp1024=) c.3052G= (p.Asp1018=) c.665-1306G= (n.665-1306G=) c.707-1306G= (n.707-1306G=) c.671-1306G= (n.671-1306G=) c.*2976G= (n.*2976G=) c.788-1306G= (n.788-1306G=) c.410-1306G= (n.410-1306G=) c.413-1306G= (n.413-1306G=) c.5-28387G= (n.5-28387G=) c.-43-17817G= (n.-43-17817G=) c.-99+32933G= (n.-99+32933G=) n.3329G= n.3370G= | dbSNP dbSNP |