| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43093232del | CA001533 | BRCA1 | n.2363del c.2299del (p.Ser767AlafsTer25) c.2173del (p.Ser725AlafsTer25) c.2296del (p.Ser766AlafsTer25) c.2221del (p.Ser741AlafsTer25) c.784+1512del (n.784+1512del) c.646+1512del (n.646+1512del) c.1411del (p.Ser471AlafsTer25) c.2176del (p.Ser726AlafsTer25) c.2158del (p.Ser720AlafsTer25) c.664+1512del (n.664+1512del) c.706+1512del (n.706+1512del) c.671-2200del (n.671-2200del) c.*2082del (n.*2082del) c.787+1512del (n.787+1512del) c.409+1512del (n.409+1512del) c.412+1512del (n.412+1512del) c.5-29281del (n.5-29281del) c.-43-18711del (n.-43-18711del) c.-99+32039del (n.-99+32039del) n.2435del n.2476del | ClinVar dbSNP |
| 17 | g.43093232T= | CA2260783735 | BRCA1 | n.2363A= c.2299A= (p.Ser767=) c.2173A= (p.Ser725=) c.2296A= (p.Ser766=) c.2221A= (p.Ser741=) c.784+1512A= (n.784+1512A=) c.646+1512A= (n.646+1512A=) c.1411A= (p.Ser471=) c.2176A= (p.Ser726=) c.2158A= (p.Ser720=) c.664+1512A= (n.664+1512A=) c.706+1512A= (n.706+1512A=) c.671-2200A= (n.671-2200A=) c.*2082A= (n.*2082A=) c.787+1512A= (n.787+1512A=) c.409+1512A= (n.409+1512A=) c.412+1512A= (n.412+1512A=) c.5-29281A= (n.5-29281A=) c.-43-18711A= (n.-43-18711A=) c.-99+32039A= (n.-99+32039A=) n.2435A= n.2476A= | dbSNP dbSNP |