| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647241C>G | CA226650 | CDKL5,RS1 | c.276G>C (p.Trp92Cys) c.2797+1151C>G (n.2797+1151C>G) n.767G>C c.2869+1151C>G (n.2869+1151C>G) c.2788+1151C>G (n.2788+1151C>G) n.3172+1151C>G | ClinVar dbSNP |
| X | g.18647241C= | CA2417988239 | CDKL5,RS1 | c.276G= (p.Trp92=) c.2797+1151C= (n.2797+1151C=) n.767G= c.2869+1151C= (n.2869+1151C=) c.2788+1151C= (n.2788+1151C=) n.3172+1151C= | dbSNP |