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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.18507154G>C
CA170496
CDKL5
c.58G>C (p.Gly20Arg)
c.-29G>C (n.-29G>C)
n.310G>C
ClinVar
dbSNP
X
g.18507154G>A
CA412489608
CDKL5
c.58G>A (p.Gly20Ser)
c.-29G>A (n.-29G>A)
n.310G>A
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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