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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
9
g.124500685C>T
CA122711
NR5A1
c.275G>A (p.Arg92Gln)
c.39+263G>A (n.39+263G>A)
c.14G>A (p.Arg5Gln)
ClinVar
dbSNP
gnomAD v4
9
g.124500685C=
CA1878469616
NR5A1
c.275G= (p.Arg92=)
c.39+263G= (n.39+263G=)
c.14G= (p.Arg5=)
dbSNP
Number of alleles fetched
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