| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43051111del | CA003443 | BRCA1 | c.5281del (p.Arg1761GlyfsTer3) c.5284del (p.Arg1762GlyfsTer3) c.5158del (p.Arg1720GlyfsTer3) c.5278del (p.Arg1760GlyfsTer3) c.5206del (p.Arg1736GlyfsTer3) c.1972del (p.Arg658GlyfsTer3) c.1834del (p.Arg612GlyfsTer3) c.4396del (p.Arg1466GlyfsTer3) c.5161del (p.Arg1721GlyfsTer3) c.5350del (p.Arg1784GlyfsTer3) c.5143del (p.Arg1715GlyfsTer3) c.1846del (p.Arg616GlyfsTer3) c.5347del (p.Arg1783GlyfsTer3) c.1671del c.1858del (p.Arg620GlyfsTer3) c.*5067del (n.*5067del) c.214del (p.Arg72GlyfsTer3) c.757del (p.Arg253GlyfsTer3) c.-98-921del (n.-98-921del) n.5420del n.5461del | ClinVar dbSNP |
| 17 | g.43051111T= | CA2260763747 | BRCA1 | c.5281A= (p.Arg1761=) c.5284A= (p.Arg1762=) c.5158A= (p.Arg1720=) c.5278A= (p.Arg1760=) c.5206A= (p.Arg1736=) c.1972A= (p.Arg658=) c.1834A= (p.Arg612=) c.4396A= (p.Arg1466=) c.5161A= (p.Arg1721=) c.5350A= (p.Arg1784=) c.5143A= (p.Arg1715=) c.1846A= (p.Arg616=) c.5347A= (p.Arg1783=) c.1671A= c.1858A= (p.Arg620=) c.*5067A= (n.*5067A=) c.214A= (p.Arg72=) c.757A= (p.Arg253=) c.-98-921A= (n.-98-921A=) n.5420A= n.5461A= | dbSNP dbSNP |