| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23535683T>C | CA115897 | NPC1 | c.3263A>G (p.Tyr1088Cys) c.18A>G n.18A>G c.2341A>G c.3314A>G (p.Tyr1105Cys) c.2849A>G (p.Tyr950Cys) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23535683T= | CA2290163947 | NPC1 | c.3263A= (p.Tyr1088=) c.18A= n.18A= c.2341A= c.3314A= (p.Tyr1105=) c.2849A= (p.Tyr950=) | dbSNP |