| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.74720648G>C | CA360071097 | HEXB | c.1514G>C (p.Arg505Pro) c.390G>C n.711G>C c.37G>C c.-50G>C (n.-50G>C) c.839G>C (p.Arg280Pro) c.450G>C n.233G>C | ClinVar dbSNP |
| 5 | g.74720648G>A | CA116487 | HEXB | c.1514G>A (p.Arg505Gln) c.390G>A n.711G>A c.37G>A c.-50G>A (n.-50G>A) c.839G>A (p.Arg280Gln) c.450G>A n.233G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |