| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23535479T>A | CA401791138 | NPC1 | c.3467A>T (p.Asn1156Ile) c.222A>T n.222A>T c.2545A>T c.144A>T c.3518A>T (p.Asn1173Ile) c.3053A>T (p.Asn1018Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.23535479T>C | CA252497 | NPC1 | c.3467A>G (p.Asn1156Ser) c.222A>G n.222A>G c.2545A>G c.144A>G c.3518A>G (p.Asn1173Ser) c.3053A>G (p.Asn1018Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |