| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23539831del | CA16041912 | NPC1 | c.2775del (p.Asn925LysfsTer11) n.2689del n.566del c.1853del n.68del c.2826del (p.Asn942LysfsTer11) c.2361del (p.Asn787LysfsTer11) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23539831G= | CA2290165919 | NPC1 | c.2775C= (p.Asn925=) n.2689C= n.566C= c.1853C= n.68C= c.2826C= (p.Asn942=) c.2361C= (p.Asn787=) | dbSNP dbSNP |