| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647192C>T | CA412372642 | CDKL5,RS1 | c.325G>A (p.Gly109Arg) c.2797+1102C>T (n.2797+1102C>T) n.816G>A c.2869+1102C>T (n.2869+1102C>T) c.2788+1102C>T (n.2788+1102C>T) n.3172+1102C>T | ClinVar dbSNP |
| X | g.18647192C>G | CA226679 | CDKL5,RS1 | c.325G>C (p.Gly109Arg) c.2797+1102C>G (n.2797+1102C>G) n.816G>C c.2869+1102C>G (n.2869+1102C>G) c.2788+1102C>G (n.2788+1102C>G) n.3172+1102C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18647192C>A | CA226681 | CDKL5,RS1 | c.325G>T (p.Gly109Trp) c.2797+1102C>A (n.2797+1102C>A) n.816G>T c.2869+1102C>A (n.2869+1102C>A) c.2788+1102C>A (n.2788+1102C>A) n.3172+1102C>A | ClinVar dbSNP |