| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32380043C>T | CA026006 | BRCA2 | c.9154C>T (p.Arg3052Trp) c.*521C>T (n.*521C>T) c.8785C>T (p.Arg2929Trp) c.*716C>T (n.*716C>T) c.9103C>T (p.Arg3035Trp) c.1570C>T (p.Arg524Trp) n.1281C>T c.9162C>T (n.9162C>T) c.2032C>T c.37C>T (p.Arg13Trp) c.111C>T c.9058C>T (p.Arg3020Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.32380043C>A | CA483262052 | BRCA2 | c.9154C>A (p.Arg3052=) c.*521C>A (n.*521C>A) c.8785C>A (p.Arg2929=) c.*716C>A (n.*716C>A) c.9103C>A (p.Arg3035=) c.1570C>A (p.Arg524=) n.1281C>A c.9162C>A (n.9162C>A) c.2032C>A c.37C>A (p.Arg13=) c.111C>A c.9058C>A (p.Arg3020=) | dbSNP |
| 13 | g.32380043C>G | CA387757925 | BRCA2 | c.9154C>G (p.Arg3052Gly) c.*521C>G (n.*521C>G) c.8785C>G (p.Arg2929Gly) c.*716C>G (n.*716C>G) c.9103C>G (p.Arg3035Gly) c.1570C>G (p.Arg524Gly) n.1281C>G c.9162C>G (n.9162C>G) c.2032C>G c.37C>G (p.Arg13Gly) c.111C>G c.9058C>G (p.Arg3020Gly) | ClinVar dbSNP |