| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23534477G>C | CA16043538 | NPC1 | c.3560C>G (p.Ala1187Gly) c.315C>G n.84C>G n.315C>G c.2638C>G c.237C>G c.3611C>G (p.Ala1204Gly) c.3146C>G (p.Ala1049Gly) | ClinVar dbSNP |
| 18 | g.23534477G>A | CA8912730 | NPC1 | c.3560C>T (p.Ala1187Val) c.315C>T n.84C>T n.315C>T c.2638C>T c.237C>T c.3611C>T (p.Ala1204Val) c.3146C>T (p.Ala1049Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |