Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340089G>A | CA387786929 | BRCA2 | c.5734G>A (p.Glu1912Lys) c.5365G>A (p.Glu1789Lys) n.5734G>A | ClinVar dbSNP |
13 | g.32340089G>C | CA387786931 | BRCA2 | c.5734G>C (p.Glu1912Gln) c.5365G>C (p.Glu1789Gln) n.5734G>C | dbSNP |
13 | g.32340089G>T | CA023098 | BRCA2 | c.5734G>T (p.Glu1912Ter) c.5365G>T (p.Glu1789Ter) n.5734G>T | ClinVar dbSNP gnomAD v4 |