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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.17387083C>T
CA172316
KCNJ11
c.748G>A (p.Val250Ile)
c.1009G>A (p.Val337Ile)
n.1167G>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
11
g.17387083C=
CA1955119114
KCNJ11
c.748G= (p.Val250=)
c.1009G= (p.Val337=)
n.1167G=
dbSNP
Number of alleles fetched
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