Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32363367C>T | CA387749581 | BRCA2 | c.8165C>T (p.Thr2722Ile) c.7796C>T (p.Thr2599Ile) c.632C>T (p.Thr211Ile) c.8173C>T (n.8173C>T) c.730C>T c.8069C>T (p.Thr2690Ile) | ClinVar dbSNP gnomAD v4 |
13 | g.32363367C>A | CA10579769 | BRCA2 | c.8165C>A (p.Thr2722Lys) c.7796C>A (p.Thr2599Lys) c.632C>A (p.Thr211Lys) c.8173C>A (n.8173C>A) c.730C>A c.8069C>A (p.Thr2690Lys) | ClinVar dbSNP |
13 | g.32363367C>G | CA025480 | BRCA2 | c.8165C>G (p.Thr2722Arg) c.7796C>G (p.Thr2599Arg) c.632C>G (p.Thr211Arg) c.8173C>G (n.8173C>G) c.730C>G c.8069C>G (p.Thr2690Arg) | ClinVar dbSNP |