Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18588079T>CCA412353532CDKL5c.680T>C (p.Leu227Pro)
n.394T>C
c.548T>C (p.Leu183Pro)
n.932T>C
ClinVar dbSNP
Xg.18588079T>GCA170502CDKL5c.680T>G (p.Leu227Arg)
n.394T>G
c.548T>G (p.Leu183Arg)
n.932T>G
ClinVar dbSNP

Number of alleles fetched