Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.18647301C>TCA10360716CDKL5,RS1c.216G>A (p.Glu72=)
c.2797+1211C>T (p.=)
c.2869+1211C>T (p.=)
c.2788+1211C>T (p.=)
n.3172+1211C>T
n.707G>A
dbSNP ExAC gnomAD
Xg.18647301C>GCA226626CDKL5,RS1c.216G>C (p.Glu72Asp)
c.2797+1211C>G (p.=)
c.2869+1211C>G (p.=)
c.2788+1211C>G (p.=)
n.3172+1211C>G
n.707G>C
ClinVar dbSNP

Number of alleles fetched