| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.32340594T>A | CA387788903 | BRCA2 | c.6239T>A (p.Leu2080Ter) c.5870T>A (p.Leu1957Ter) n.6239T>A | dbSNP |
| 13 | g.32340594T>G | CA023781 | BRCA2 | c.6239T>G (p.Leu2080Ter) c.5870T>G (p.Leu1957Ter) n.6239T>G | ClinVar dbSNP |
| 13 | g.32340594T>C | CA387788904 | BRCA2 | c.6239T>C (p.Leu2080Ser) c.5870T>C (p.Leu1957Ser) n.6239T>C | ClinVar dbSNP gnomAD v4 |
| 13 | g.32340594T= | CA2082812056 | BRCA2 | c.6239T= (p.Leu2080=) c.5870T= (p.Leu1957=) n.6239T= | dbSNP |