| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23551653G>A | CA297011 | NPC1 | c.1628C>T (p.Pro543Leu) n.1542C>T n.303C>T c.835+3105C>T c.1679C>T (p.Pro560Leu) c.1214C>T (p.Pro405Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23551653G= | CA2290171518 | NPC1 | c.1628C= (p.Pro543=) n.1542C= n.303C= c.835+3105C= c.1679C= (p.Pro560=) c.1214C= (p.Pro405=) | dbSNP |