| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23535637dup | CA16041911 | NPC1 | c.3309dup (p.Val1104CysfsTer17) c.64dup n.64dup c.2387dup c.3360dup (p.Val1121CysfsTer17) c.2895dup (p.Val966CysfsTer17) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23535637A= | CA2290163924 | NPC1 | c.3309T= (p.Gly1103=) c.64T= n.64T= c.2387T= c.3360T= (p.Gly1120=) c.2895T= (p.Gly965=) | dbSNP dbSNP |