| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539941C>T | CA115896 | NPC1 | c.2665G>A (p.Val889Met) n.2579G>A n.456G>A c.1743G>A c.2716G>A (p.Val906Met) c.2251G>A (p.Val751Met) | ClinVar dbSNP |
| 18 | g.23539941C= | CA2290165959 | NPC1 | c.2665G= (p.Val889=) n.2579G= n.456G= c.1743G= c.2716G= (p.Val906=) c.2251G= (p.Val751=) | dbSNP |