Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18584332G>CCA121529CDKL5c.533G>C (p.Arg178Pro)
c.401G>C (p.Arg134Pro)
n.785G>C
 ClinVar dbSNP
Xg.18584332G>ACA199289CDKL5c.533G>A (p.Arg178Gln)
c.401G>A (p.Arg134Gln)
n.785G>A
 ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched