| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093568dup | CA327793 | BRCA1 | n.2027dup c.1963dup (p.Tyr655LeufsTer18) c.1837dup (p.Tyr613LeufsTer18) c.1960dup (p.Tyr654LeufsTer18) c.1885dup (p.Tyr629LeufsTer18) c.784+1176dup (n.784+1176dup) c.646+1176dup (n.646+1176dup) c.1075dup (p.Tyr359LeufsTer18) c.1840dup (p.Tyr614LeufsTer18) c.1822dup (p.Tyr608LeufsTer18) c.664+1176dup (n.664+1176dup) c.706+1176dup (n.706+1176dup) c.670+2278dup (n.670+2278dup) c.*1746dup (n.*1746dup) c.787+1176dup (n.787+1176dup) c.409+1176dup (n.409+1176dup) c.412+1176dup (n.412+1176dup) c.5-29617dup (n.5-29617dup) c.-43-19047dup (n.-43-19047dup) c.-99+31703dup (n.-99+31703dup) n.2099dup n.2140dup | ClinVar dbSNP |
| 17 | g.43093568A= | CA2260784106 | BRCA1 | n.2027T= c.1963T= (p.Tyr655=) c.1837T= (p.Tyr613=) c.1960T= (p.Tyr654=) c.1885T= (p.Tyr629=) c.784+1176T= (n.784+1176T=) c.646+1176T= (n.646+1176T=) c.1075T= (p.Tyr359=) c.1840T= (p.Tyr614=) c.1822T= (p.Tyr608=) c.664+1176T= (n.664+1176T=) c.706+1176T= (n.706+1176T=) c.670+2278T= (n.670+2278T=) c.*1746T= (n.*1746T=) c.787+1176T= (n.787+1176T=) c.409+1176T= (n.409+1176T=) c.412+1176T= (n.412+1176T=) c.5-29617T= (n.5-29617T=) c.-43-19047T= (n.-43-19047T=) c.-99+31703T= (n.-99+31703T=) n.2099T= n.2140T= | dbSNP dbSNP |