Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.7526869C>TCA347441MCOLN1c.514C>T (p.Arg172Ter)
n.594C>T
n.476C>T
n.335C>T
ClinVar dbSNP gnomAD v4 COSMIC
19g.7526869C=CA2320962010MCOLN1c.514C= (p.Arg172=)
n.594C=
n.476C=
n.335C=
dbSNP

Number of alleles fetched