Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32346841C>T | CA024619 | BRCA2 | c.6952C>T (p.Arg2318Ter) c.6583C>T (p.Arg2195Ter) n.6952C>T c.6856C>T (p.Arg2286Ter) | ClinVar dbSNP gnomAD v4 |
13 | g.32346841C>A | CA483275745 | BRCA2 | c.6952C>A (p.Arg2318=) c.6583C>A (p.Arg2195=) n.6952C>A c.6856C>A (p.Arg2286=) | ClinVar dbSNP |
13 | g.32346841C>G | CA16614347 | BRCA2 | c.6952C>G (p.Arg2318Gly) c.6583C>G (p.Arg2195Gly) n.6952C>G c.6856C>G (p.Arg2286Gly) | ClinVar dbSNP gnomAD v4 |