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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.44286656T>C
CA199112
AIRE
c.232T>C (p.Trp78Arg)
n.393T>C
n.401T>C
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
21
g.44286656T>A
CA219198
AIRE
c.232T>A (p.Trp78Arg)
n.393T>A
n.401T>A
ClinVar
dbSNP
Number of alleles fetched
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