Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.43047670dup | CA16042162 | BRCA1 | c.5437dup (p.Ala1813GlyfsTer16) c.5440dup (p.Ala1814GlyfsTer16) c.5314dup (p.Ala1772GlyfsTer16) c.5434dup (p.Ala1812GlyfsTer16) c.5362dup (p.Ala1788GlyfsTer16) c.2128dup (p.Ala710GlyfsTer16) c.1990dup (p.Ala664GlyfsTer16) c.4552dup (p.Ala1518GlyfsTer16) c.5317dup (p.Ala1773GlyfsTer16) c.5506dup (p.Ala1836GlyfsTer16) c.5299dup (p.Ala1767GlyfsTer16) c.2002dup (p.Ala668GlyfsTer16) n.1323dup n.804dup c.5503dup (p.Ala1835GlyfsTer16) c.1827dup c.2014dup (p.Ala672GlyfsTer16) c.*5223dup (n.*5223dup) c.2054dup (p.Cys685TrpfsTer21) c.370dup (p.Ala124GlyfsTer16) c.913dup (p.Ala305GlyfsTer16) c.139dup (p.Ala47GlyfsTer16) n.5576dup n.5617dup | ClinVar dbSNP gnomAD v4 |
17 | g.43047670C= | CA2260762000 | BRCA1 | c.5437G= (p.Ala1813=) c.5440G= (p.Ala1814=) c.5314G= (p.Ala1772=) c.5434G= (p.Ala1812=) c.5362G= (p.Ala1788=) c.2128G= (p.Ala710=) c.1990G= (p.Ala664=) c.4552G= (p.Ala1518=) c.5317G= (p.Ala1773=) c.5506G= (p.Ala1836=) c.5299G= (p.Ala1767=) c.2002G= (p.Ala668=) n.1323G= n.804G= c.5503G= (p.Ala1835=) c.1827G= c.2014G= (p.Ala672=) c.*5223G= (n.*5223G=) c.2054G= (p.Cys685=) c.370G= (p.Ala124=) c.913G= (p.Ala305=) c.139G= (p.Ala47=) n.5576G= n.5617G= | dbSNP dbSNP dbSNP |