Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74486431C>TCA249909NPC2c.88G>A (p.Val30Met)
c.56G>A (p.Cys19Tyr)
c.153G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486431C=CA2147067109NPC2c.88G= (p.Val30=)
c.56G= (p.Cys19=)
c.153G=
 dbSNP

Number of alleles fetched