| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.74718929G>T | CA200787 | HEXB | c.1375G>T (p.Asp459Tyr) c.251G>T n.572G>T c.700G>T (p.Asp234Tyr) c.311G>T n.94G>T | ClinVar dbSNP |
| 5 | g.74718929G= | CA1555781825 | HEXB | c.1375G= (p.Asp459=) c.251G= n.572G= c.700G= (p.Asp234=) c.311G= n.94G= | dbSNP |