| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32380085C>G | CA026027 | BRCA2 | c.9196C>G (p.Gln3066Glu) c.*563C>G (n.*563C>G) c.8827C>G (p.Gln2943Glu) c.*758C>G (n.*758C>G) c.9145C>G (p.Gln3049Glu) c.1612C>G (p.Gln538Glu) n.1323C>G c.9204C>G (n.9204C>G) c.2074C>G c.79C>G (p.Gln27Glu) c.153C>G c.9100C>G (p.Gln3034Glu) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380085C>T | CA026028 | BRCA2 | c.9196C>T (p.Gln3066Ter) c.*563C>T (n.*563C>T) c.8827C>T (p.Gln2943Ter) c.*758C>T (n.*758C>T) c.9145C>T (p.Gln3049Ter) c.1612C>T (p.Gln538Ter) n.1323C>T c.9204C>T (n.9204C>T) c.2074C>T c.79C>T (p.Gln27Ter) c.153C>T c.9100C>T (p.Gln3034Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.32380085C>A | CA10583151 | BRCA2 | c.9196C>A (p.Gln3066Lys) c.*563C>A (n.*563C>A) c.8827C>A (p.Gln2943Lys) c.*758C>A (n.*758C>A) c.9145C>A (p.Gln3049Lys) c.1612C>A (p.Gln538Lys) n.1323C>A c.9204C>A (n.9204C>A) c.2074C>A c.79C>A (p.Gln27Lys) c.153C>A c.9100C>A (p.Gln3034Lys) | ClinVar dbSNP |
| 13 | g.32380085C= | CA2082840698 | BRCA2 | c.9196C= (p.Gln3066=) c.*563C= (n.*563C=) c.8827C= (p.Gln2943=) c.*758C= (n.*758C=) c.9145C= (p.Gln3049=) c.1612C= (p.Gln538=) n.1323C= c.9204C= (n.9204C=) c.2074C= c.79C= (p.Gln27=) c.153C= c.9100C= (p.Gln3034=) | dbSNP |