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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.134486475C>A
CA414713623
HPRT1
c.329C>A (p.Ser110Ter)
n.487C>A
n.287C>A
c.347C>A (p.Ser116Ter)
dbSNP
gnomAD v3
gnomAD v4
X
g.134486475C>T
CA120894
HPRT1
c.329C>T (p.Ser110Leu)
n.487C>T
n.287C>T
c.347C>T (p.Ser116Leu)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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