| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18628515C>T | CA16044338 | CDKL5 | c.2641C>T (p.Gln881Ter) c.2764C>T (p.Gln922Ter) c.2713C>T (p.Gln905Ter) c.2632C>T (p.Gln878Ter) n.3016C>T | ClinVar dbSNP |
| X | g.18628515C= | CA2417982203 | CDKL5 | c.2641C= (p.Gln881=) c.2764C= (p.Gln922=) c.2713C= (p.Gln905=) c.2632C= (p.Gln878=) n.3016C= | dbSNP |