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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
12
g.121839998G>C
CA115065
HPD
c.1005C>G (p.Ile335Met)
c.888C>G (p.Ile296Met)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
12
g.121839998G>T
CA482192851
HPD
c.1005C>A (p.Ile335=)
c.888C>A (p.Ile296=)
ClinVar
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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