| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74484420G>T | CA390532242 | NPC2 | c.358C>A (p.Pro120Thr) c.158+1909C>A (n.158+1909C>A) c.423C>A | ClinVar dbSNP gnomAD v4 |
| 14 | g.74484420G>A | CA254414 | NPC2 | c.358C>T (p.Pro120Ser) c.158+1909C>T (n.158+1909C>T) c.423C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.74484420G= | CA2147066218 | NPC2 | c.358C= (p.Pro120=) c.158+1909C= (n.158+1909C=) c.423C= | dbSNP |