| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18604599C>T | CA171614 | CDKL5 | c.1675C>T (p.Arg559Ter) c.1624C>T (p.Arg542Ter) c.1543C>T (p.Arg515Ter) n.1927C>T | ClinVar dbSNP |
| X | g.18604599C= | CA2417974460 | CDKL5 | c.1675C= (p.Arg559=) c.1624C= (p.Arg542=) c.1543C= (p.Arg515=) n.1927C= | dbSNP |