| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23534471T>C | CA8912726 | NPC1 | c.3566A>G (p.Glu1189Gly) c.321A>G n.90A>G n.321A>G c.2644A>G c.243A>G c.3617A>G (p.Glu1206Gly) c.3152A>G (p.Glu1051Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23534471T= | CA2290163321 | NPC1 | c.3566A= (p.Glu1189=) c.321A= n.90A= n.321A= c.2644A= c.243A= c.3617A= (p.Glu1206=) c.3152A= (p.Glu1051=) | dbSNP |