| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23538609C>T | CA341663 | NPC1 | c.2974G>A (p.Gly992Arg) c.2052G>A n.607G>A n.317G>A c.3025G>A (p.Gly1009Arg) c.2560G>A (p.Gly854Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23538609C>G | CA340034 | NPC1 | c.2974G>C (p.Gly992Arg) c.2052G>C n.607G>C n.317G>C c.3025G>C (p.Gly1009Arg) c.2560G>C (p.Gly854Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.23538609C>A | CA115895 | NPC1 | c.2974G>T (p.Gly992Trp) c.2052G>T n.607G>T n.317G>T c.3025G>T (p.Gly1009Trp) c.2560G>T (p.Gly854Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |