Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18647303C>TCA226621CDKL5,RS1c.214G>A (p.Glu72Lys)
c.2797+1213C>T (p.=)
c.2869+1213C>T (p.=)
c.2788+1213C>T (p.=)
n.3172+1213C>T
n.705G>A
ClinVar dbSNP ExAC gnomAD
Xg.18647303C>GCA226623CDKL5,RS1c.214G>C (p.Glu72Gln)
c.2797+1213C>G (p.=)
c.2869+1213C>G (p.=)
c.2788+1213C>G (p.=)
n.3172+1213C>G
n.705G>C
ClinVar dbSNP

Number of alleles fetched