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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.18564496C>T
CA121521
CDKL5
c.119C>T (p.Ala40Val)
c.14-10858C>T (n.14-10858C>T)
n.371C>T
ClinVar
dbSNP
gnomAD v4
COSMIC
X
g.18564496C=
CA2417962055
CDKL5
c.119C= (p.Ala40=)
c.14-10858C= (n.14-10858C=)
n.371C=
dbSNP
Number of alleles fetched
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