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

Number of alleles fetched