| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647309C>T | CA16043201 | CDKL5,RS1 | c.208G>A (p.Gly70Ser) c.2797+1219C>T (n.2797+1219C>T) n.699G>A c.2869+1219C>T (n.2869+1219C>T) c.2788+1219C>T (n.2788+1219C>T) n.3172+1219C>T | ClinVar dbSNP |
| X | g.18647309C>G | CA226615 | CDKL5,RS1 | c.208G>C (p.Gly70Arg) c.2797+1219C>G (n.2797+1219C>G) n.699G>C c.2869+1219C>G (n.2869+1219C>G) c.2788+1219C>G (n.2788+1219C>G) n.3172+1219C>G | ClinVar dbSNP |
| X | g.18647309C>A | CA412372969 | CDKL5,RS1 | c.208G>T (p.Gly70Cys) c.2797+1219C>A (n.2797+1219C>A) n.699G>T c.2869+1219C>A (n.2869+1219C>A) c.2788+1219C>A (n.2788+1219C>A) n.3172+1219C>A | ClinVar dbSNP |
| X | g.18647309C= | CA2417988274 | CDKL5,RS1 | c.208G= (p.Gly70=) c.2797+1219C= (n.2797+1219C=) n.699G= c.2869+1219C= (n.2869+1219C=) c.2788+1219C= (n.2788+1219C=) n.3172+1219C= | dbSNP |