| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23556436A>G | CA252499 | NPC1 | c.1133T>C (p.Val378Ala) n.1047T>C c.415T>C c.1184T>C (p.Val395Ala) c.719T>C (p.Val240Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23556436A>C | CA401778171 | NPC1 | c.1133T>G (p.Val378Gly) n.1047T>G c.415T>G c.1184T>G (p.Val395Gly) c.719T>G (p.Val240Gly) | dbSNP gnomAD v4 |
| 18 | g.23556436A= | CA2290173727 | NPC1 | c.1133T= (p.Val378=) n.1047T= c.415T= c.1184T= (p.Val395=) c.719T= (p.Val240=) | dbSNP |