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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.18588079T>C
CA412353532
CDKL5
c.680T>C (p.Leu227Pro)
n.394T>C
c.548T>C (p.Leu183Pro)
n.932T>C
ClinVar
dbSNP
X
g.18588079T>G
CA170502
CDKL5
c.680T>G (p.Leu227Arg)
n.394T>G
c.548T>G (p.Leu183Arg)
n.932T>G
ClinVar
dbSNP
Number of alleles fetched
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