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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
14
g.54845784C>T
CA211435
GCH1
c.610G>A (p.Val204Ile)
n.758G>A
n.293-2730G>A
c.316G>A (p.Val106Ile)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
14
g.54845784C=
CA2138218959
GCH1
c.610G= (p.Val204=)
n.758G=
n.293-2730G=
c.316G= (p.Val106=)
dbSNP
Number of alleles fetched
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