| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539465C>A | CA10606394 | NPC1 | c.2801G>T (p.Arg934Leu) c.1879G>T n.434G>T c.2852G>T (p.Arg951Leu) c.2387G>T (p.Arg796Leu) | ClinVar dbSNP |
| 18 | g.23539465C>T | CA274396 | NPC1 | c.2801G>A (p.Arg934Gln) c.1879G>A n.434G>A c.2852G>A (p.Arg951Gln) c.2387G>A (p.Arg796Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539465C= | CA2290165762 | NPC1 | c.2801G= (p.Arg934=) c.1879G= n.434G= c.2852G= (p.Arg951=) c.2387G= (p.Arg796=) | dbSNP |