Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7527877A>CCA347334MCOLN1c.694A>C (p.Thr232Pro)
n.1009A>C
c.585A>C (p.Ser195=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.7527877A=CA2320962555MCOLN1c.694A= (p.Thr232=)
n.1009A=
c.585A= (p.Ser195=)
 dbSNP dbSNP

Number of alleles fetched