| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.90769438dup | CA344653 | BLM | c.2407dup (p.Trp803LeufsTer4) c.*1331dup (n.*1331dup) n.433dup c.1282dup (p.Trp428LeufsTer4) c.445dup (p.Trp149LeufsTer4) c.1093dup (p.Trp365LeufsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.90769438T= | CA2195285597 | BLM | c.2407T= (p.Trp803=) c.*1331T= (n.*1331T=) n.433T= c.1282T= (p.Trp428=) c.445T= (p.Trp149=) c.1093T= (p.Trp365=) | dbSNP dbSNP |