| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.74493217C>T | CA7268212 | NPC2 | c.58G>A (p.Glu20Lys) c.26G>A (p.Arg9Gln) c.147+814G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493217C>A | CA340788 | NPC2 | c.58G>T (p.Glu20Ter) c.26G>T (p.Arg9Leu) c.147+814G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.74493217C= | CA2147069924 | NPC2 | c.58G= (p.Glu20=) c.26G= (p.Arg9=) c.147+814G= | dbSNP |