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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
3
g.57198214T>C
CA119001
HESX1
c.541A>G (p.Thr181Ala)
c.439A>G (p.Thr147Ala)
n.1034A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
3
g.57198214T=
CA1367090016
HESX1
c.541A= (p.Thr181=)
c.439A= (p.Thr147=)
n.1034A=
dbSNP
Number of alleles fetched
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