Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74486378G>TCA342108NPC2c.141C>A (p.Cys47Ter)
c.109C>A (p.Pro37Thr)
c.206C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.74486378G=CA2147067094NPC2c.141C= (p.Cys47=)
c.109C= (p.Pro37=)
c.206C=
 dbSNP

Number of alleles fetched