| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23561510G>A | CA297009 | NPC1 | c.481C>T (p.Arg161Trp) n.395C>T c.16C>T (p.Arg6Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23561510G>C | CA401782978 | NPC1 | c.481C>G (p.Arg161Gly) n.395C>G c.16C>G (p.Arg6Gly) | dbSNP gnomAD v4 |
| 18 | g.23561510G= | CA2290176231 | NPC1 | c.481C= (p.Arg161=) n.395C= c.16C= (p.Arg6=) | dbSNP |