| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32338709C>A | CA387780943 | BRCA2 | c.4354C>A (p.Gln1452Lys) c.3985C>A (p.Gln1329Lys) n.4354C>A | dbSNP |
| 13 | g.32338709C>G | CA020031 | BRCA2 | c.4354C>G (p.Gln1452Glu) c.3985C>G (p.Gln1329Glu) n.4354C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.32338709C>T | CA16606424 | BRCA2 | c.4354C>T (p.Gln1452Ter) c.3985C>T (p.Gln1329Ter) n.4354C>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.32338709C= | CA2082810939 | BRCA2 | c.4354C= (p.Gln1452=) c.3985C= (p.Gln1329=) n.4354C= | dbSNP |