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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.115738256A>T
CA258048
CASQ2
c.224T>A (p.Leu75His)
c.500T>A (p.Leu167His)
ClinVar
dbSNP
gnomAD v4
1
g.115738256A=
CA1141581000
CASQ2
c.224T= (p.Leu75=)
c.500T= (p.Leu167=)
dbSNP
Number of alleles fetched
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