| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32398437C>A | CA10589578 | BRCA2 | c.*447C>A (n.*447C>A) c.*1291C>A (n.*1291C>A) c.9555C>A (p.Tyr3185Ter) c.*1486C>A (n.*1486C>A) c.9873C>A (p.Tyr3291Ter) c.2340C>A (p.Tyr780Ter) n.2051C>A c.9924C>A (p.Tyr3308Ter) c.9932C>A (n.9932C>A) n.512C>A c.9828C>A (p.Tyr3276Ter) | ClinVar dbSNP |
| 13 | g.32398437C>G | CA026332 | BRCA2 | c.*447C>G (n.*447C>G) c.*1291C>G (n.*1291C>G) c.9555C>G (p.Tyr3185Ter) c.*1486C>G (n.*1486C>G) c.9873C>G (p.Tyr3291Ter) c.2340C>G (p.Tyr780Ter) n.2051C>G c.9924C>G (p.Tyr3308Ter) c.9932C>G (n.9932C>G) n.512C>G c.9828C>G (p.Tyr3276Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.32398437C>T | CA026333 | BRCA2 | c.*447C>T (n.*447C>T) c.*1291C>T (n.*1291C>T) c.9555C>T (p.Tyr3185=) c.*1486C>T (n.*1486C>T) c.9873C>T (p.Tyr3291=) c.2340C>T (p.Tyr780=) n.2051C>T c.9924C>T (p.Tyr3308=) c.9932C>T (n.9932C>T) n.512C>T c.9828C>T (p.Tyr3276=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |