| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23548052del | CA16041915 | NPC1 | c.1711del (p.Tyr571IlefsTer21) n.1625del c.836-2903del c.1762del (p.Tyr588IlefsTer21) c.1297del (p.Tyr433IlefsTer21) | ClinVar dbSNP |
| 18 | g.23548052A= | CA3229117684 | NPC1 | c.1711T= (p.Tyr571=) n.1625T= c.836-2903T= c.1762T= (p.Tyr588=) c.1297T= (p.Tyr433=) | dbSNP dbSNP |