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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.33017018A>G
CA117421
KL
c.578A>G (p.His193Arg)
n.586A>G
c.-103+705A>G (n.-103+705A>G)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
13
g.33017018A=
CA2083135477
KL
c.578A= (p.His193=)
n.586A=
c.-103+705A= (n.-103+705A=)
dbSNP
Number of alleles fetched
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