Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340392A>T | CA023562 | BRCA2 | c.6037A>T (p.Lys2013Ter) c.5668A>T (p.Lys1890Ter) n.6037A>T | ClinVar dbSNP |
13 | g.32340392A>G | CA023559 | BRCA2 | c.6037A>G (p.Lys2013Glu) c.5668A>G (p.Lys1890Glu) n.6037A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32340392A= | CA2082809413 | BRCA2 | c.6037A= (p.Lys2013=) c.5668A= (p.Lys1890=) n.6037A= | dbSNP |