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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.7528639del
CA347434
MCOLN1
c.920del (p.Leu307ProfsTer?)
n.1235del
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
19
g.7528639T=
CA3233718378
MCOLN1
c.920T= (p.Leu307=)
n.1235T=
dbSNP
Number of alleles fetched
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