Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.23534477G>CCA16043538NPC1c.3560C>G (p.Ala1187Gly)
c.3611C>G (p.Ala1204Gly)
c.3146C>G (p.Ala1049Gly)
n.315C>G
n.84C>G
n.2638C>G
n.237C>G
ClinVar dbSNP
18g.23534477G>ACA8912730NPC1c.3560C>T (p.Ala1187Val)
c.3611C>T (p.Ala1204Val)
c.3146C>T (p.Ala1049Val)
n.315C>T
n.84C>T
n.2638C>T
n.237C>T
ClinVar dbSNP ExAC gnomAD COSMIC

Number of alleles fetched