| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539393C>A | CA401792446 | NPC1 | c.2873G>T (p.Arg958Leu) c.1951G>T n.506G>T c.2924G>T (p.Arg975Leu) c.2459G>T (p.Arg820Leu) | dbSNP |
| 18 | g.23539393C>T | CA252498 | NPC1 | c.2873G>A (p.Arg958Gln) c.1951G>A n.506G>A c.2924G>A (p.Arg975Gln) c.2459G>A (p.Arg820Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |