| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.74718921A>T | CA360070422 | HEXB | c.1367A>T (p.Tyr456Phe) c.243A>T n.564A>T c.692A>T (p.Tyr231Phe) c.303A>T n.86A>T | dbSNP |
| 5 | g.74718921A>C | CA116483 | HEXB | c.1367A>C (p.Tyr456Ser) c.243A>C n.564A>C c.692A>C (p.Tyr231Ser) c.303A>C n.86A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |