| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90790712C>T | CA344516 | BLM | c.2887C>T (p.His963Tyr) n.1460C>T c.*1811C>T (n.*1811C>T) n.913C>T n.424C>T c.1762C>T (p.His588Tyr) c.925C>T (p.His309Tyr) c.1573C>T (p.His525Tyr) | ClinVar dbSNP gnomAD v4 |
| 15 | g.90790712C= | CA2195295767 | BLM | c.2887C= (p.His963=) n.1460C= c.*1811C= (n.*1811C=) n.913C= n.424C= c.1762C= (p.His588=) c.925C= (p.His309=) c.1573C= (p.His525=) | dbSNP |
| 15 | g.90790712C>A | CA393846347 | BLM | c.2887C>A (p.His963Asn) n.1460C>A c.*1811C>A (n.*1811C>A) n.913C>A n.424C>A c.1762C>A (p.His588Asn) c.925C>A (p.His309Asn) c.1573C>A (p.His525Asn) | ClinVar dbSNP |