| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.89222511C>T | CA346907 | LIPA | c.894G>A (p.Gln298=) c.726G>A (p.Gln242=) c.546G>A (p.Gln182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.89222511C>G | CA377516637 | LIPA | c.894G>C (p.Gln298His) c.726G>C (p.Gln242His) c.546G>C (p.Gln182His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |