Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74484420G>TCA390532242NPC2c.358C>A (p.Pro120Thr)
c.158+1909C>A (n.158+1909C>A)
c.423C>A
dbSNP gnomAD v4
14g.74484420G>ACA254414NPC2c.358C>T (p.Pro120Ser)
c.158+1909C>T (n.158+1909C>T)
c.423C>T
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched