| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74480707G>A | CA254412 | NPC2 | c.436C>T (p.Gln146Ter) c.432+4C>T (n.432+4C>T) c.364-419C>T (n.364-419C>T) c.231C>T (n.231C>T) c.501C>T | ClinVar dbSNP gnomAD v4 |
| 14 | g.74480707G= | CA2147059406 | NPC2 | c.436C= (p.Gln146=) c.432+4C= (n.432+4C=) c.364-419C= (n.364-419C=) c.231C= (n.231C=) c.501C= | dbSNP |