Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74484483A>GCA342111NPC2c.295T>C (p.Cys99Arg)
c.158+1846T>C (n.158+1846T>C)
c.360T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74484483A=CA2147066238NPC2c.295T= (p.Cys99=)
c.158+1846T= (n.158+1846T=)
c.360T=
 dbSNP

Number of alleles fetched