Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32332277G>T | CA025393 | BRCA2 | c.799G>T (p.Gly267Ter) c.430G>T (p.Gly144Ter) c.*578G>T (n.*578G>T) n.997G>T n.799G>T | ClinVar dbSNP |
13 | g.32332277G>C | CA387760348 | BRCA2 | c.799G>C (p.Gly267Arg) c.430G>C (p.Gly144Arg) c.*578G>C (n.*578G>C) n.997G>C n.799G>C | dbSNP |
13 | g.32332277G>A | CA387760347 | BRCA2 | c.799G>A (p.Gly267Arg) c.430G>A (p.Gly144Arg) c.*578G>A (n.*578G>A) n.997G>A n.799G>A | dbSNP gnomAD v4 COSMIC COSMIC |