| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.74718804C>T | CA116485 | HEXB | c.1250C>T (p.Pro417Leu) c.126C>T n.447C>T c.575C>T (p.Pro192Leu) c.186C>T n.74-105C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.74718804C= | CA1555781573 | HEXB | c.1250C= (p.Pro417=) c.126C= n.447C= c.575C= (p.Pro192=) c.186C= n.74-105C= | dbSNP |