Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340389del | CA645294073 | BRCA2 | c.6034del (p.Ser2012ProfsTer28) c.5665del (p.Ser1889ProfsTer28) n.6034del | ClinVar dbSNP gnomAD v4 |
13 | g.32340388_32340389del | CA023552 | BRCA2 | c.6033_6034del (p.Ser2012GlnfsTer5) c.5664_5665del (p.Ser1889GlnfsTer5) n.6033_6034del | ClinVar dbSNP ExAC gnomAD v2 |
13 | g.32340389dup | CA645509064 | BRCA2 | c.6034dup (p.Ser2012PhefsTer6) c.5665dup (p.Ser1889PhefsTer6) n.6034dup | ClinVar dbSNP gnomAD v4 |