| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539417A>C | CA16043142 | NPC1 | c.2849T>G (p.Val950Gly) c.1927T>G n.482T>G c.2900T>G (p.Val967Gly) c.2435T>G (p.Val812Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539417A>G | CA401792495 | NPC1 | c.2849T>C (p.Val950Ala) c.1927T>C n.482T>C c.2900T>C (p.Val967Ala) c.2435T>C (p.Val812Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23539417A= | CA2290165742 | NPC1 | c.2849T= (p.Val950=) c.1927T= n.482T= c.2900T= (p.Val967=) c.2435T= (p.Val812=) | dbSNP |