| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32379513C>T | CA387757344 | BRCA2 | c.8951C>T (p.Ser2984Leu) c.*318C>T (n.*318C>T) c.8582C>T (p.Ser2861Leu) c.*513C>T (n.*513C>T) c.1418C>T (p.Ser473Leu) n.1078C>T c.8959C>T (n.8959C>T) c.1829C>T c.8855C>T (p.Ser2952Leu) c.8755-237C>T (n.8755-237C>T) | dbSNP |
| 13 | g.32379513C>A | CA10589532 | BRCA2 | c.8951C>A (p.Ser2984Ter) c.*318C>A (n.*318C>A) c.8582C>A (p.Ser2861Ter) c.*513C>A (n.*513C>A) c.1418C>A (p.Ser473Ter) n.1078C>A c.8959C>A (n.8959C>A) c.1829C>A c.8855C>A (p.Ser2952Ter) c.8755-237C>A (n.8755-237C>A) | ClinVar dbSNP |
| 13 | g.32379513C>G | CA025886 | BRCA2 | c.8951C>G (p.Ser2984Ter) c.*318C>G (n.*318C>G) c.8582C>G (p.Ser2861Ter) c.*513C>G (n.*513C>G) c.1418C>G (p.Ser473Ter) n.1078C>G c.8959C>G (n.8959C>G) c.1829C>G c.8855C>G (p.Ser2952Ter) c.8755-237C>G (n.8755-237C>G) | ClinVar dbSNP |