Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43094714_43094723dupCA003921BRCA1n.879_888dup
c.815_824dup (p.Thr276AlafsTer14)
c.689_698dup (p.Thr234AlafsTer14)
c.812_821dup (p.Thr275AlafsTer14)
c.737_746dup (p.Thr250AlafsTer14)
c.784+28_784+37dup (n.784+28_784+37dup)
c.646+28_646+37dup (n.646+28_646+37dup)
c.-74_-65dup (n.-74_-65dup)
c.692_701dup (p.Thr235AlafsTer14)
c.674_683dup (p.Thr229AlafsTer14)
c.664+28_664+37dup (n.664+28_664+37dup)
c.706+28_706+37dup (n.706+28_706+37dup)
c.*823_*832dup (n.*823_*832dup)
c.*689_*698dup (n.*689_*698dup)
c.670+1130_670+1139dup (n.670+1130_670+1139dup)
c.166_175dup
c.*598_*607dup (n.*598_*607dup)
c.787+28_787+37dup (n.787+28_787+37dup)
c.412_421dup
c.409+28_409+37dup (n.409+28_409+37dup)
c.412+28_412+37dup (n.412+28_412+37dup)
c.*751_*760dup (n.*751_*760dup)
c.4+30466_4+30475dup (n.4+30466_4+30475dup)
c.-43-20195_-43-20186dup (n.-43-20195_-43-20186dup)
c.-99+30555_-99+30564dup (n.-99+30555_-99+30564dup)
n.951_960dup
n.992_1001dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.43094714_43094723delCA2825002521BRCA1n.879_888del
c.815_824del (p.Glu272AlafsTer23)
c.689_698del (p.Glu230AlafsTer23)
c.812_821del (p.Glu271AlafsTer23)
c.737_746del (p.Glu246AlafsTer23)
c.784+28_784+37del (n.784+28_784+37del)
c.646+28_646+37del (n.646+28_646+37del)
c.-74_-65del (n.-74_-65del)
c.692_701del (p.Glu231AlafsTer23)
c.674_683del (p.Glu225AlafsTer23)
c.664+28_664+37del (n.664+28_664+37del)
c.706+28_706+37del (n.706+28_706+37del)
c.*823_*832del (n.*823_*832del)
c.*689_*698del (n.*689_*698del)
c.670+1130_670+1139del (n.670+1130_670+1139del)
c.166_175del
c.*598_*607del (n.*598_*607del)
c.787+28_787+37del (n.787+28_787+37del)
c.412_421del
c.409+28_409+37del (n.409+28_409+37del)
c.412+28_412+37del (n.412+28_412+37del)
c.*751_*760del (n.*751_*760del)
c.4+30466_4+30475del (n.4+30466_4+30475del)
c.-43-20195_-43-20186del (n.-43-20195_-43-20186del)
c.-99+30555_-99+30564del (n.-99+30555_-99+30564del)
n.951_960del
n.992_1001del
 ClinVar dbSNP

Number of alleles fetched