| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23544981C>A | CA401772177 | NPC1 | c.1926G>T (p.Met642Ile) n.1840G>T c.1004G>T c.1977G>T (p.Met659Ile) c.1512G>T (p.Met504Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.23544981C>T | CA401772178 | NPC1 | c.1926G>A (p.Met642Ile) n.1840G>A c.1004G>A c.1977G>A (p.Met659Ile) c.1512G>A (p.Met504Ile) | dbSNP gnomAD v4 |
| 18 | g.23544981C>G | CA145951 | NPC1 | c.1926G>C (p.Met642Ile) n.1840G>C c.1004G>C c.1977G>C (p.Met659Ile) c.1512G>C (p.Met504Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |