Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.43047670dupCA16042162BRCA1c.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
17g.43047670C=CA2260762000BRCA1c.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

Number of alleles fetched