| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539823T>G | CA252496 | NPC1 | c.2783A>C (p.Gln928Pro) n.2697A>C n.574A>C c.1861A>C n.76A>C c.2834A>C (p.Gln945Pro) c.2369A>C (p.Gln790Pro) | ClinVar dbSNP gnomAD v4 |
| 18 | g.23539823T= | CA2290165912 | NPC1 | c.2783A= (p.Gln928=) n.2697A= n.574A= c.1861A= n.76A= c.2834A= (p.Gln945=) c.2369A= (p.Gln790=) | dbSNP |