| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23538572G>A | CA8912897 | NPC1 | c.3011C>T (p.Ser1004Leu) c.2089C>T n.644C>T n.354C>T c.3062C>T (p.Ser1021Leu) c.2597C>T (p.Ser866Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23538572G= | CA2290165355 | NPC1 | c.3011C= (p.Ser1004=) c.2089C= n.644C= n.354C= c.3062C= (p.Ser1021=) c.2597C= (p.Ser866=) | dbSNP |