| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539447G>A | CA273881 | NPC1 | c.2819C>T (p.Ser940Leu) c.1897C>T n.452C>T c.2870C>T (p.Ser957Leu) c.2405C>T (p.Ser802Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539447G= | CA2290165754 | NPC1 | c.2819C= (p.Ser940=) c.1897C= n.452C= c.2870C= (p.Ser957=) c.2405C= (p.Ser802=) | dbSNP |