| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093056del | CA001646 | BRCA1 | n.2539del c.2475del (p.Asp825GlufsTer21) c.2349del (p.Asp783GlufsTer21) c.2472del (p.Asp824GlufsTer21) c.2397del (p.Asp799GlufsTer21) c.784+1688del (n.784+1688del) c.646+1688del (n.646+1688del) c.1587del (p.Asp529GlufsTer21) c.2352del (p.Asp784GlufsTer21) c.2334del (p.Asp778GlufsTer21) c.664+1688del (n.664+1688del) c.706+1688del (n.706+1688del) c.671-2024del (n.671-2024del) c.*2258del (n.*2258del) c.787+1688del (n.787+1688del) c.409+1688del (n.409+1688del) c.412+1688del (n.412+1688del) c.5-29105del (n.5-29105del) c.-43-18535del (n.-43-18535del) c.-99+32215del (n.-99+32215del) c.2352del (p.Asp784GlufsTer?) n.2611del n.2652del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.43093056G= | CA2260783557 | BRCA1 | n.2539C= c.2475C= (p.Asp825=) c.2349C= (p.Asp783=) c.2472C= (p.Asp824=) c.2397C= (p.Asp799=) c.784+1688C= (n.784+1688C=) c.646+1688C= (n.646+1688C=) c.1587C= (p.Asp529=) c.2352C= (p.Asp784=) c.2334C= (p.Asp778=) c.664+1688C= (n.664+1688C=) c.706+1688C= (n.706+1688C=) c.671-2024C= (n.671-2024C=) c.*2258C= (n.*2258C=) c.787+1688C= (n.787+1688C=) c.409+1688C= (n.409+1688C=) c.412+1688C= (n.412+1688C=) c.5-29105C= (n.5-29105C=) c.-43-18535C= (n.-43-18535C=) c.-99+32215C= (n.-99+32215C=) n.2611C= n.2652C= | dbSNP dbSNP |