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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.76983629A>C
CA371557099
PEX2
c.550T>G (p.Cys184Gly)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
8
g.76983629A>G
CA180286
PEX2
c.550T>C (p.Cys184Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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