| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23538564G>C | CA340032 | NPC1 | c.3019C>G (p.Pro1007Ala) c.2097C>G n.652C>G n.362C>G c.3070C>G (p.Pro1024Ala) c.2605C>G (p.Pro869Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23538564G= | CA2290165352 | NPC1 | c.3019C= (p.Pro1007=) c.2097C= n.652C= n.362C= c.3070C= (p.Pro1024=) c.2605C= (p.Pro869=) | dbSNP |