| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32362595G>A | CA025318 | BRCA2 | c.7878G>A (p.Trp2626Ter) c.7509G>A (p.Trp2503Ter) c.345G>A (p.Trp115Ter) c.7886G>A (p.Gly2629Glu) c.443G>A n.7886G>A c.7782G>A (p.Trp2594Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32362595G>T | CA387747104 | BRCA2 | c.7878G>T (p.Trp2626Cys) c.7509G>T (p.Trp2503Cys) c.345G>T (p.Trp115Cys) c.7886G>T (p.Gly2629Val) c.443G>T n.7886G>T c.7782G>T (p.Trp2594Cys) | ClinVar dbSNP |
| 13 | g.32362595G>C | CA025319 | BRCA2 | c.7878G>C (p.Trp2626Cys) c.7509G>C (p.Trp2503Cys) c.345G>C (p.Trp115Cys) c.7886G>C (p.Gly2629Ala) c.443G>C n.7886G>C c.7782G>C (p.Trp2594Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |