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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.57198277G>T
CA353400378
HESX1
c.478C>A (p.Arg160Ser)
c.376C>A (p.Arg126Ser)
n.971C>A
dbSNP
3
g.57198277G>A
CA118999
HESX1
c.478C>T (p.Arg160Cys)
c.376C>T (p.Arg126Cys)
n.971C>T
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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