| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23543504dup | CA220560 | NPC1 | c.2196dup (p.Pro733SerfsTer10) n.2110dup c.1274dup c.2247dup (p.Pro750SerfsTer10) c.1782dup (p.Pro595SerfsTer10) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23543504A= | CA3229021187 | NPC1 | c.2196T= (p.Ala732=) n.2110T= c.1274T= c.2247T= (p.Ala749=) c.1782T= (p.Ala594=) | dbSNP |