| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32379431C>A | CA387756378 | BRCA2 | c.8869C>A (p.Gln2957Lys) c.*236C>A (n.*236C>A) c.8500C>A (p.Gln2834Lys) c.*431C>A (n.*431C>A) c.1336C>A (p.Gln446Lys) n.996C>A c.8877C>A (n.8877C>A) c.1747C>A c.431C>A (n.431C>A) c.8773C>A (p.Gln2925Lys) c.8755-319C>A (n.8755-319C>A) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32379431C>T | CA025856 | BRCA2 | c.8869C>T (p.Gln2957Ter) c.*236C>T (n.*236C>T) c.8500C>T (p.Gln2834Ter) c.*431C>T (n.*431C>T) c.1336C>T (p.Gln446Ter) n.996C>T c.8877C>T (n.8877C>T) c.1747C>T c.431C>T (n.431C>T) c.8773C>T (p.Gln2925Ter) c.8755-319C>T (n.8755-319C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.32379431C= | CA2082836050 | BRCA2 | c.8869C= (p.Gln2957=) c.*236C= (n.*236C=) c.8500C= (p.Gln2834=) c.*431C= (n.*431C=) c.1336C= (p.Gln446=) n.996C= c.8877C= (n.8877C=) c.1747C= c.431C= (n.431C=) c.8773C= (p.Gln2925=) c.8755-319C= (n.8755-319C=) | dbSNP |