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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.7526869C>T
CA347441
MCOLN1
c.514C>T (p.Arg172Ter)
n.594C>T
n.476C>T
n.335C>T
ClinVar
dbSNP
gnomAD v4
COSMIC
19
g.7526869C=
CA2320962010
MCOLN1
c.514C= (p.Arg172=)
n.594C=
n.476C=
n.335C=
dbSNP
Number of alleles fetched
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