| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093055del | CA001647 | BRCA1 | n.2540del c.2476del (p.Thr826GlnfsTer20) c.2350del (p.Thr784GlnfsTer20) c.2473del (p.Thr825GlnfsTer20) c.2398del (p.Thr800GlnfsTer20) c.784+1689del (n.784+1689del) c.646+1689del (n.646+1689del) c.1588del (p.Thr530GlnfsTer20) c.2353del (p.Thr785GlnfsTer20) c.2335del (p.Thr779GlnfsTer20) c.664+1689del (n.664+1689del) c.706+1689del (n.706+1689del) c.671-2023del (n.671-2023del) c.*2259del (n.*2259del) c.787+1689del (n.787+1689del) c.409+1689del (n.409+1689del) c.412+1689del (n.412+1689del) c.5-29104del (n.5-29104del) c.-43-18534del (n.-43-18534del) c.-99+32216del (n.-99+32216del) c.2353del (p.Thr785GlnfsTer?) n.2612del n.2653del | ClinVar dbSNP |
| 17 | g.43093055T= | CA2260783556 | BRCA1 | n.2540A= c.2476A= (p.Thr826=) c.2350A= (p.Thr784=) c.2473A= (p.Thr825=) c.2398A= (p.Thr800=) c.784+1689A= (n.784+1689A=) c.646+1689A= (n.646+1689A=) c.1588A= (p.Thr530=) c.2353A= (p.Thr785=) c.2335A= (p.Thr779=) c.664+1689A= (n.664+1689A=) c.706+1689A= (n.706+1689A=) c.671-2023A= (n.671-2023A=) c.*2259A= (n.*2259A=) c.787+1689A= (n.787+1689A=) c.409+1689A= (n.409+1689A=) c.412+1689A= (n.412+1689A=) c.5-29104A= (n.5-29104A=) c.-43-18534A= (n.-43-18534A=) c.-99+32216A= (n.-99+32216A=) n.2612A= n.2653A= | dbSNP dbSNP |