| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74484426C>A | CA340791 | NPC2 | c.352G>T (p.Glu118Ter) c.158+1903G>T (n.158+1903G>T) c.417G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74484426C>T | CA7268145 | NPC2 | c.352G>A (p.Glu118Lys) c.158+1903G>A (n.158+1903G>A) c.417G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |