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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.2445103C>G
CA379115683
KCNQ1
c.24-280C>G (n.24-280C>G)
c.5C>G (p.Ala2Gly)
ClinVar
dbSNP
gnomAD v4
11
g.2445103C>T
CA007692
KCNQ1
c.24-280C>T (n.24-280C>T)
c.5C>T (p.Ala2Val)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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