| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43051091del | CA003457 | BRCA1 | c.5301del (p.Tyr1768MetfsTer24) c.5304del (p.Tyr1769MetfsTer24) c.5178del (p.Tyr1727MetfsTer24) c.5298del (p.Tyr1767MetfsTer24) c.5226del (p.Tyr1743MetfsTer24) c.1992del (p.Tyr665MetfsTer24) c.1854del (p.Tyr619MetfsTer24) c.4416del (p.Tyr1473MetfsTer24) c.5181del (p.Tyr1728MetfsTer24) c.5370del (p.Tyr1791MetfsTer24) c.5163del (p.Tyr1722MetfsTer24) c.1866del (p.Tyr623MetfsTer24) c.5367del (p.Tyr1790MetfsTer24) c.1691del c.1878del (p.Tyr627MetfsTer24) c.*5087del (n.*5087del) c.1992del (p.Tyr665MetfsTer?) c.234del (p.Tyr79MetfsTer24) c.777del (p.Tyr260MetfsTer24) c.-98-901del (n.-98-901del) n.5440del n.5481del | ClinVar dbSNP |
| 17 | g.43051091G= | CA2260763721 | BRCA1 | c.5301C= (p.Cys1767=) c.5304C= (p.Cys1768=) c.5178C= (p.Cys1726=) c.5298C= (p.Cys1766=) c.5226C= (p.Cys1742=) c.1992C= (p.Cys664=) c.1854C= (p.Cys618=) c.4416C= (p.Cys1472=) c.5181C= (p.Cys1727=) c.5370C= (p.Cys1790=) c.5163C= (p.Cys1721=) c.1866C= (p.Cys622=) c.5367C= (p.Cys1789=) c.1691C= c.1878C= (p.Cys626=) c.*5087C= (n.*5087C=) c.234C= (p.Cys78=) c.777C= (p.Cys259=) c.-98-901C= (n.-98-901C=) n.5440C= n.5481C= | dbSNP dbSNP |