Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7533651A>TCA347339MCOLN1c.1704A>T (p.Gly568=)
n.2019A>T
c.432A>T
c.57A>T
n.258A>T
 ClinVar dbSNP
19g.7533651A>CCA9139225MCOLN1c.1704A>C (p.Gly568=)
n.2019A>C
c.432A>C
c.57A>C
n.258A>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched