Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74486404C>TCA340794NPC2c.115G>A (p.Val39Met)
c.83G>A (p.Cys28Tyr)
c.180G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.74486404C=CA2147067104NPC2c.115G= (p.Val39=)
c.83G= (p.Cys28=)
c.180G=
 dbSNP

Number of alleles fetched