| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18579968G>C | CA16621269 | CDKL5 | c.403G>C (p.Asp135His) c.271G>C (p.Asp91His) n.655G>C | ClinVar dbSNP |
| X | g.18579968G>A | CA412350441 | CDKL5 | c.403G>A (p.Asp135Asn) c.271G>A (p.Asp91Asn) n.655G>A | ClinVar dbSNP |
| X | g.18579968G= | CA2417966762 | CDKL5 | c.403G= (p.Asp135=) c.271G= (p.Asp91=) n.655G= | dbSNP |