| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18625245C>T | CA199392 | CDKL5 | c.2494C>T (p.Gln832Ter) c.2617C>T (p.Gln873Ter) c.2566C>T (p.Gln856Ter) c.2485C>T (p.Gln829Ter) n.2869C>T | ClinVar dbSNP |
| X | g.18625245C= | CA2417981039 | CDKL5 | c.2494C= (p.Gln832=) c.2617C= (p.Gln873=) c.2566C= (p.Gln856=) c.2485C= (p.Gln829=) n.2869C= | dbSNP |