| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539985T>A | CA275049 | NPC1 | c.2621A>T (p.Asp874Val) n.2535A>T n.412A>T c.1699A>T c.2672A>T (p.Asp891Val) c.2207A>T (p.Asp736Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539985T= | CA2290165980 | NPC1 | c.2621A= (p.Asp874=) n.2535A= n.412A= c.1699A= c.2672A= (p.Asp891=) c.2207A= (p.Asp736=) | dbSNP |