| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23556358C>T | CA273968 | NPC1 | c.1211G>A (p.Arg404Gln) n.1125G>A c.493G>A c.1262G>A (p.Arg421Gln) c.797G>A (p.Arg266Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23556358C= | CA2290173695 | NPC1 | c.1211G= (p.Arg404=) n.1125G= c.493G= c.1262G= (p.Arg421=) c.797G= (p.Arg266=) | dbSNP |