Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43045736del | CA16616882 | BRCA1 | c.5531del (p.Tyr1844SerfsTer10) c.5534del (p.Tyr1845SerfsTer10) c.5408del (p.Tyr1803SerfsTer10) c.5528del (p.Tyr1843SerfsTer10) c.5456del (p.Tyr1819SerfsTer10) c.2222del (p.Tyr741SerfsTer10) c.2084del (p.Tyr695SerfsTer10) c.4646del (p.Tyr1549SerfsTer10) c.5411del (p.Tyr1804SerfsTer10) c.5600del (p.Tyr1867SerfsTer10) c.5393del (p.Tyr1798SerfsTer10) c.2096del (p.Tyr699SerfsTer10) n.1417del n.898del c.5597del (p.Tyr1866SerfsTer10) c.1921del c.2108del (p.Tyr703SerfsTer10) c.*5317del (n.*5317del) c.*48del (n.*48del) c.464del (p.Tyr155SerfsTer10) c.1007del (p.Tyr336SerfsTer10) c.233del (p.Tyr78SerfsTer10) n.5670del n.5711del | ClinVar dbSNP |
17 | g.43045736T= | CA2260761075 | BRCA1 | c.5531A= (p.Tyr1844=) c.5534A= (p.Tyr1845=) c.5408A= (p.Tyr1803=) c.5528A= (p.Tyr1843=) c.5456A= (p.Tyr1819=) c.2222A= (p.Tyr741=) c.2084A= (p.Tyr695=) c.4646A= (p.Tyr1549=) c.5411A= (p.Tyr1804=) c.5600A= (p.Tyr1867=) c.5393A= (p.Tyr1798=) c.2096A= (p.Tyr699=) n.1417A= n.898A= c.5597A= (p.Tyr1866=) c.1921A= c.2108A= (p.Tyr703=) c.*5317A= (n.*5317A=) c.*48A= (n.*48A=) c.464A= (p.Tyr155=) c.1007A= (p.Tyr336=) c.233A= (p.Tyr78=) n.5670A= n.5711A= | dbSNP dbSNP |