| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90769519dup | CA344654 | BLM | c.2488dup (p.Thr830AsnfsTer5) c.*1412dup (n.*1412dup) n.514dup c.1363dup (p.Thr455AsnfsTer5) c.526dup (p.Thr176AsnfsTer5) c.1174dup (p.Thr392AsnfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.90769519A= | CA3212189469 | BLM | c.2488A= (p.Thr830=) c.*1412A= (n.*1412A=) n.514A= c.1363A= (p.Thr455=) c.526A= (p.Thr176=) c.1174A= (p.Thr392=) | dbSNP |