| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18628374C>T | CA121519 | CDKL5 | c.2500C>T (p.Gln834Ter) c.2623C>T (p.Gln875Ter) c.2572C>T (p.Gln858Ter) c.2491C>T (p.Gln831Ter) n.2875C>T | ClinVar dbSNP |
| X | g.18628374C= | CA2417982163 | CDKL5 | c.2500C= (p.Gln834=) c.2623C= (p.Gln875=) c.2572C= (p.Gln858=) c.2491C= (p.Gln831=) n.2875C= | dbSNP |