| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.23536814G>A | CA220563 | NPC1 | c.3104C>T (p.Ala1035Val) c.2182C>T n.737C>T n.447C>T c.3155C>T (p.Ala1052Val) c.2690C>T (p.Ala897Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.23536814G>C | CA401791931 | NPC1 | c.3104C>G (p.Ala1035Gly) c.2182C>G n.737C>G n.447C>G c.3155C>G (p.Ala1052Gly) c.2690C>G (p.Ala897Gly) | dbSNP |
| 18 | g.23536814G= | CA2290164489 | NPC1 | c.3104C= (p.Ala1035=) c.2182C= n.737C= n.447C= c.3155C= (p.Ala1052=) c.2690C= (p.Ala897=) | dbSNP |