| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23536758C>T | CA341664 | NPC1 | c.3160G>A (p.Ala1054Thr) c.2238G>A n.793G>A n.503G>A c.3211G>A (p.Ala1071Thr) c.2746G>A (p.Ala916Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23536758C= | CA2290164467 | NPC1 | c.3160G= (p.Ala1054=) c.2238G= n.793G= n.503G= c.3211G= (p.Ala1071=) c.2746G= (p.Ala916=) | dbSNP |