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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
17
g.42911391C>G
CA8587703
G6PC1
c.1039C>G (p.Gln347Glu)
c.*431C>G (n.*431C>G)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
17
g.42911391C>T
CA256179
G6PC1
c.1039C>T (p.Gln347Ter)
c.*431C>T (n.*431C>T)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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