| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43051063C>G | CA003492 | BRCA1 | c.5329G>C (p.Asp1777His) c.5332G>C (p.Asp1778His) c.5206G>C (p.Asp1736His) c.5326G>C (p.Asp1776His) c.5254G>C (p.Asp1752His) c.2020G>C (p.Asp674His) c.1882G>C (p.Asp628His) c.4444G>C (p.Asp1482His) c.5209G>C (p.Asp1737His) c.5398G>C (p.Asp1800His) c.5191G>C (p.Asp1731His) c.1894G>C (p.Asp632His) c.5395G>C (p.Asp1799His) c.1719G>C c.1906G>C (p.Asp636His) c.*5115G>C (n.*5115G>C) c.2020G>C (p.Gly674Arg) c.262G>C (p.Asp88His) c.805G>C (p.Asp269His) c.-98-873G>C (n.-98-873G>C) n.5468G>C n.5509G>C | ClinVar dbSNP |
| 17 | g.43051063C>T | CA003491 | BRCA1 | c.5329G>A (p.Asp1777Asn) c.5332G>A (p.Asp1778Asn) c.5206G>A (p.Asp1736Asn) c.5326G>A (p.Asp1776Asn) c.5254G>A (p.Asp1752Asn) c.2020G>A (p.Asp674Asn) c.1882G>A (p.Asp628Asn) c.4444G>A (p.Asp1482Asn) c.5209G>A (p.Asp1737Asn) c.5398G>A (p.Asp1800Asn) c.5191G>A (p.Asp1731Asn) c.1894G>A (p.Asp632Asn) c.5395G>A (p.Asp1799Asn) c.1719G>A c.1906G>A (p.Asp636Asn) c.*5115G>A (n.*5115G>A) c.2020G>A (p.Gly674Arg) c.262G>A (p.Asp88Asn) c.805G>A (p.Asp269Asn) c.-98-873G>A (n.-98-873G>A) n.5468G>A n.5509G>A | ClinVar dbSNP |
| 17 | g.43051063C>A | CA003493 | BRCA1 | c.5329G>T (p.Asp1777Tyr) c.5332G>T (p.Asp1778Tyr) c.5206G>T (p.Asp1736Tyr) c.5326G>T (p.Asp1776Tyr) c.5254G>T (p.Asp1752Tyr) c.2020G>T (p.Asp674Tyr) c.1882G>T (p.Asp628Tyr) c.4444G>T (p.Asp1482Tyr) c.5209G>T (p.Asp1737Tyr) c.5398G>T (p.Asp1800Tyr) c.5191G>T (p.Asp1731Tyr) c.1894G>T (p.Asp632Tyr) c.5395G>T (p.Asp1799Tyr) c.1719G>T c.1906G>T (p.Asp636Tyr) c.*5115G>T (n.*5115G>T) c.2020G>T (p.Gly674Trp) c.262G>T (p.Asp88Tyr) c.805G>T (p.Asp269Tyr) c.-98-873G>T (n.-98-873G>T) n.5468G>T n.5509G>T | ClinVar dbSNP |
| 17 | g.43051063C= | CA2260763686 | BRCA1 | c.5329G= (p.Asp1777=) c.5332G= (p.Asp1778=) c.5206G= (p.Asp1736=) c.5326G= (p.Asp1776=) c.5254G= (p.Asp1752=) c.2020G= (p.Asp674=) c.1882G= (p.Asp628=) c.4444G= (p.Asp1482=) c.5209G= (p.Asp1737=) c.5398G= (p.Asp1800=) c.5191G= (p.Asp1731=) c.1894G= (p.Asp632=) c.5395G= (p.Asp1799=) c.1719G= c.1906G= (p.Asp636=) c.*5115G= (n.*5115G=) c.2020G= (p.Gly674=) c.262G= (p.Asp88=) c.805G= (p.Asp269=) c.-98-873G= (n.-98-873G=) n.5468G= n.5509G= | dbSNP |