| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093101del | CA001624 | BRCA1 | n.2497del c.2433del (p.Lys812ArgfsTer3) c.2307del (p.Lys770ArgfsTer3) c.2430del (p.Lys811ArgfsTer3) c.2355del (p.Lys786ArgfsTer3) c.784+1646del (n.784+1646del) c.646+1646del (n.646+1646del) c.1545del (p.Lys516ArgfsTer3) c.2310del (p.Lys771ArgfsTer3) c.2292del (p.Lys765ArgfsTer3) c.664+1646del (n.664+1646del) c.706+1646del (n.706+1646del) c.671-2066del (n.671-2066del) c.*2216del (n.*2216del) c.787+1646del (n.787+1646del) c.409+1646del (n.409+1646del) c.412+1646del (n.412+1646del) c.5-29147del (n.5-29147del) c.-43-18577del (n.-43-18577del) c.-99+32173del (n.-99+32173del) n.2569del n.2610del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.43093101dup | CA10580615 | BRCA1 | n.2497dup c.2433dup (p.Lys812GlnfsTer11) c.2307dup (p.Lys770GlnfsTer11) c.2430dup (p.Lys811GlnfsTer11) c.2355dup (p.Lys786GlnfsTer11) c.784+1646dup (n.784+1646dup) c.646+1646dup (n.646+1646dup) c.1545dup (p.Lys516GlnfsTer11) c.2310dup (p.Lys771GlnfsTer11) c.2292dup (p.Lys765GlnfsTer11) c.664+1646dup (n.664+1646dup) c.706+1646dup (n.706+1646dup) c.671-2066dup (n.671-2066dup) c.*2216dup (n.*2216dup) c.787+1646dup (n.787+1646dup) c.409+1646dup (n.409+1646dup) c.412+1646dup (n.412+1646dup) c.5-29147dup (n.5-29147dup) c.-43-18577dup (n.-43-18577dup) c.-99+32173dup (n.-99+32173dup) n.2569dup n.2610dup | ClinVar dbSNP |