| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18584332G>C | CA121529 | CDKL5 | c.533G>C (p.Arg178Pro) c.401G>C (p.Arg134Pro) n.785G>C | ClinVar dbSNP |
| X | g.18584332G>A | CA199289 | CDKL5 | c.533G>A (p.Arg178Gln) c.401G>A (p.Arg134Gln) n.785G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.18584332G>T | CA412352495 | CDKL5 | c.533G>T (p.Arg178Leu) c.401G>T (p.Arg134Leu) n.785G>T | ClinVar dbSNP |
| X | g.18584332G= | CA2417968032 | CDKL5 | c.533G= (p.Arg178=) c.401G= (p.Arg134=) n.785G= | dbSNP |