Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.32371035A>C | CA025712 | BRCA2 | c.8567A>C (p.Glu2856Ala) c.8198A>C (p.Glu2733Ala) c.1034A>C (p.Glu345Ala) c.8575A>C (n.8575A>C) c.1132A>C c.65A>C (p.Glu22Ala) c.8471A>C (p.Glu2824Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.32371035A>G | CA387752813 | BRCA2 | c.8567A>G (p.Glu2856Gly) c.8198A>G (p.Glu2733Gly) c.1034A>G (p.Glu345Gly) c.8575A>G (n.8575A>G) c.1132A>G c.65A>G (p.Glu22Gly) c.8471A>G (p.Glu2824Gly) | dbSNP |
13 | g.32371035A>T | CA387752814 | BRCA2 | c.8567A>T (p.Glu2856Val) c.8198A>T (p.Glu2733Val) c.1034A>T (p.Glu345Val) c.8575A>T (n.8575A>T) c.1132A>T c.65A>T (p.Glu22Val) c.8471A>T (p.Glu2824Val) | ClinVar dbSNP |