| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90761015C>T | CA270826 | BLM | c.1642C>T (p.Gln548Ter) c.*566C>T (n.*566C>T) c.517C>T (p.Gln173Ter) c.328C>T (p.Gln110Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90761015C>A | CA393843508 | BLM | c.1642C>A (p.Gln548Lys) c.*566C>A (n.*566C>A) c.517C>A (p.Gln173Lys) c.328C>A (p.Gln110Lys) | dbSNP gnomAD v2 gnomAD v4 |