| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23561461C>T | CA340035 | NPC1 | c.530G>A (p.Cys177Tyr) n.444G>A c.65G>A (p.Cys22Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23561461C>G | CA401782611 | NPC1 | c.530G>C (p.Cys177Ser) n.444G>C c.65G>C (p.Cys22Ser) | dbSNP |
| 18 | g.23561461C= | CA2290176205 | NPC1 | c.530G= (p.Cys177=) n.444G= c.65G= (p.Cys22=) | dbSNP |