Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32340902G>T | CA024157 | BRCA2 | c.6547G>T (p.Glu2183Ter) c.6178G>T (p.Glu2060Ter) n.6547G>T | ClinVar dbSNP gnomAD v4 |
13 | g.32340902G>C | CA387789762 | BRCA2 | c.6547G>C (p.Glu2183Gln) c.6178G>C (p.Glu2060Gln) n.6547G>C | ClinVar dbSNP |
13 | g.32340902G>A | CA387789758 | BRCA2 | c.6547G>A (p.Glu2183Lys) c.6178G>A (p.Glu2060Lys) n.6547G>A | dbSNP |