| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23538651G>A | CA252501 | NPC1 | c.2932C>T (p.Arg978Cys) c.2010C>T n.565C>T n.275C>T c.2983C>T (p.Arg995Cys) c.2518C>T (p.Arg840Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23538651G>T | CA401792308 | NPC1 | c.2932C>A (p.Arg978Ser) c.2010C>A n.565C>A n.275C>A c.2983C>A (p.Arg995Ser) c.2518C>A (p.Arg840Ser) | ClinVar dbSNP |