| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.74721131G>C | CA360071864 | HEXB | c.1627G>C (p.Ala543Pro) c.490-187G>C c.137-187G>C c.64G>C (p.Ala22Pro) c.952G>C (p.Ala318Pro) c.563G>C n.346G>C n.75G>C | dbSNP |
| 5 | g.74721131G>A | CA116489 | HEXB | c.1627G>A (p.Ala543Thr) c.490-187G>A c.137-187G>A c.64G>A (p.Ala22Thr) c.952G>A (p.Ala318Thr) c.563G>A n.346G>A n.75G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |