Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.44540234C>ACA115646NPC1L1c.163G>T (p.Val55Leu)
c.-1205G>T (n.-1205G>T)
n.555G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44540234C>GCA4242524NPC1L1c.163G>C (p.Val55Leu)
c.-1205G>C (n.-1205G>C)
n.555G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.44540234C>TCA4242525NPC1L1c.163G>A (p.Val55Met)
c.-1205G>A (n.-1205G>A)
n.555G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched