| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23535621del | CA16041910 | NPC1 | c.3325del (p.Ile1109TyrfsTer4) c.80del n.80del c.2403del c.2del c.3376del (p.Ile1126TyrfsTer4) c.2911del (p.Ile971TyrfsTer4) | ClinVar dbSNP |
| 18 | g.23535621T= | CA2290163916 | NPC1 | c.3325A= (p.Ile1109=) c.80A= n.80A= c.2403A= c.2A= c.3376A= (p.Ile1126=) c.2911A= (p.Ile971=) | dbSNP dbSNP |