| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90760657G>A | CA16041769 | BLM | c.1284G>A (p.Trp428Ter) n.412G>A c.*208G>A (n.*208G>A) c.159G>A (p.Trp53Ter) c.-31G>A (n.-31G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.90760657G= | CA2195276694 | BLM | c.1284G= (p.Trp428=) n.412G= c.*208G= (n.*208G=) c.159G= (p.Trp53=) c.-31G= (n.-31G=) | dbSNP |