| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23560468T>C | CA145970 | NPC1 | c.644A>G (p.His215Arg) n.558A>G c.179A>G (p.His60Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23560468T>A | CA401781438 | NPC1 | c.644A>T (p.His215Leu) n.558A>T c.179A>T (p.His60Leu) | dbSNP |
| 18 | g.23560468T= | CA2290175769 | NPC1 | c.644A= (p.His215=) n.558A= c.179A= (p.His60=) | dbSNP dbSNP |
| 18 | g.23560468T>G | CA401781439 | NPC1 | c.644A>C (p.His215Pro) n.558A>C c.179A>C (p.His60Pro) | dbSNP |