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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.35577180G>C
CA8504895
PEX12
c.538C>G (p.Arg180Gly)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
17
g.35577180G>A
CA119065
PEX12
c.538C>T (p.Arg180Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
Number of alleles fetched
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