| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647251T>C | CA226645 | CDKL5,RS1 | c.266A>G (p.Tyr89Cys) c.2797+1161T>C (n.2797+1161T>C) n.757A>G c.2869+1161T>C (n.2869+1161T>C) c.2788+1161T>C (n.2788+1161T>C) n.3172+1161T>C | ClinVar dbSNP |
| X | g.18647251T= | CA2417988244 | CDKL5,RS1 | c.266A= (p.Tyr89=) c.2797+1161T= (n.2797+1161T=) n.757A= c.2869+1161T= (n.2869+1161T=) c.2788+1161T= (n.2788+1161T=) n.3172+1161T= | dbSNP dbSNP |