| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43094734dup | CA328063 | BRCA1 | n.863dup c.799dup (p.Ser267PhefsTer20) c.673dup (p.Ser225PhefsTer20) c.796dup (p.Ser266PhefsTer20) c.721dup (p.Ser241PhefsTer20) c.784+12dup (n.784+12dup) c.646+12dup (n.646+12dup) c.-90dup (n.-90dup) c.676dup (p.Ser226PhefsTer20) c.658dup (p.Ser220PhefsTer20) c.664+12dup (n.664+12dup) c.706+12dup (n.706+12dup) c.*807dup (n.*807dup) c.*673dup (n.*673dup) c.670+1114dup (n.670+1114dup) c.150dup c.*582dup (n.*582dup) c.787+12dup (n.787+12dup) c.396dup c.409+12dup (n.409+12dup) c.412+12dup (n.412+12dup) c.*735dup (n.*735dup) c.4+30450dup (n.4+30450dup) c.-43-20211dup (n.-43-20211dup) c.-99+30539dup (n.-99+30539dup) n.935dup n.976dup | ClinVar dbSNP |
| 17 | g.43094733_43094734del | CA003881 | BRCA1 | n.862_863del c.798_799del (p.Ser267LysfsTer19) c.672_673del (p.Ser225LysfsTer19) c.795_796del (p.Ser266LysfsTer19) c.720_721del (p.Ser241LysfsTer19) c.784+11_784+12del (n.784+11_784+12del) c.646+11_646+12del (n.646+11_646+12del) c.-91_-90del (n.-91_-90del) c.675_676del (p.Ser226LysfsTer19) c.657_658del (p.Ser220LysfsTer19) c.664+11_664+12del (n.664+11_664+12del) c.706+11_706+12del (n.706+11_706+12del) c.*806_*807del (n.*806_*807del) c.*672_*673del (n.*672_*673del) c.670+1113_670+1114del (n.670+1113_670+1114del) c.149_150del c.*581_*582del (n.*581_*582del) c.787+11_787+12del (n.787+11_787+12del) c.395_396del c.409+11_409+12del (n.409+11_409+12del) c.412+11_412+12del (n.412+11_412+12del) c.*734_*735del (n.*734_*735del) c.4+30449_4+30450del (n.4+30449_4+30450del) c.-43-20212_-43-20211del (n.-43-20212_-43-20211del) c.-99+30538_-99+30539del (n.-99+30538_-99+30539del) n.934_935del n.975_976del | ClinVar dbSNP gnomAD v4 |
| 17 | g.43094734del | CA658656633 | BRCA1 | n.863del c.799del (p.Ser267GlnfsTer?) c.673del (p.Ser225GlnfsTer?) c.796del (p.Ser266GlnfsTer?) c.721del (p.Ser241GlnfsTer?) c.784+12del (n.784+12del) c.646+12del (n.646+12del) c.-90del (n.-90del) c.676del (p.Ser226GlnfsTer?) c.658del (p.Ser220GlnfsTer?) c.664+12del (n.664+12del) c.706+12del (n.706+12del) c.*807del (n.*807del) c.*673del (n.*673del) c.670+1114del (n.670+1114del) c.150del c.*582del (n.*582del) c.787+12del (n.787+12del) c.396del c.409+12del (n.409+12del) c.412+12del (n.412+12del) c.*735del (n.*735del) c.4+30450del (n.4+30450del) c.-43-20211del (n.-43-20211del) c.-99+30539del (n.-99+30539del) n.935del n.976del | ClinVar dbSNP |