| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90785079C>G | CA393846198 | BLM | c.2821C>G (p.Gln941Glu) c.*1745C>G (n.*1745C>G) n.847C>G c.1696C>G (p.Gln566Glu) c.859C>G (p.Gln287Glu) c.1507C>G (p.Gln503Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90785079C>T | CA16041776 | BLM | c.2821C>T (p.Gln941Ter) c.*1745C>T (n.*1745C>T) n.847C>T c.1696C>T (p.Gln566Ter) c.859C>T (p.Gln287Ter) c.1507C>T (p.Gln503Ter) | ClinVar dbSNP |