Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74486386G>ACA342106NPC2c.133C>T (p.Gln45Ter)
c.101C>T (p.Pro34Leu)
c.198C>T
 ClinVar dbSNP gnomAD v4
14g.74486386G=CA2147067096NPC2c.133C= (p.Gln45=)
c.101C= (p.Pro34=)
c.198C=
 dbSNP

Number of alleles fetched