| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74493272C>A | CA7268220 | NPC2 | c.3G>T (p.Met1Ile) c.147+759G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.74493272C>T | CA390377010 | NPC2 | c.3G>A (p.Met1Ile) c.147+759G>A | ClinVar dbSNP |
| 14 | g.74493272C>G | CA269836 | NPC2 | c.3G>C (p.Met1Ile) c.147+759G>C | ClinVar dbSNP |
| 14 | g.74493272C= | CA2147069955 | NPC2 | c.3G= (p.Met1=) c.147+759G= | dbSNP |