| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539418C>T | CA281534 | NPC1 | c.2848G>A (p.Val950Met) c.1926G>A n.481G>A c.2899G>A (p.Val967Met) c.2434G>A (p.Val812Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23539418C>G | CA401792498 | NPC1 | c.2848G>C (p.Val950Leu) c.1926G>C n.481G>C c.2899G>C (p.Val967Leu) c.2434G>C (p.Val812Leu) | dbSNP |
| 18 | g.23539418C= | CA2290165743 | NPC1 | c.2848G= (p.Val950=) c.1926G= n.481G= c.2899G= (p.Val967=) c.2434G= (p.Val812=) | dbSNP |