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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.7529176dup
CA347344
MCOLN1
c.1210dup (p.Tyr404LeufsTer?)
n.1525dup
n.206dup
n.393dup
c.87dup
ClinVar
dbSNP
gnomAD v4
19
g.7529176T=
CA3233730328
MCOLN1
c.1210T= (p.Tyr404=)
n.1525T=
n.206T=
n.393T=
c.87T=
dbSNP
dbSNP
Number of alleles fetched
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