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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.115726998T>C
CA213554
CASQ2
c.*103A>G (n.*103A>G)
c.731A>G (p.His244Arg)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
1
g.115726998T=
CA1140490837
CASQ2
c.*103A= (n.*103A=)
c.731A= (p.His244=)
dbSNP
Number of alleles fetched
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