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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.128839801C>T
CA120160
KCNJ1
c.443G>A (p.Gly148Glu)
c.500G>A (p.Gly167Glu)
c.494G>A (p.Gly165Glu)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
11
g.128839801C=
CA2008251103
KCNJ1
c.443G= (p.Gly148=)
c.500G= (p.Gly167=)
c.494G= (p.Gly165=)
dbSNP
Number of alleles fetched
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