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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
21
g.44287085C>T
CA116140
AIRE
c.415C>T (p.Arg139Ter)
n.576C>T
n.584C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
21
g.44287085C>G
CA10051549
AIRE
c.415C>G (p.Arg139Gly)
n.576C>G
n.584C>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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