| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647301C>T | CA10360716 | CDKL5,RS1 | c.216G>A (p.Glu72=) c.2797+1211C>T (n.2797+1211C>T) n.707G>A c.2869+1211C>T (n.2869+1211C>T) c.2788+1211C>T (n.2788+1211C>T) n.3172+1211C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18647301C>G | CA226626 | CDKL5,RS1 | c.216G>C (p.Glu72Asp) c.2797+1211C>G (n.2797+1211C>G) n.707G>C c.2869+1211C>G (n.2869+1211C>G) c.2788+1211C>G (n.2788+1211C>G) n.3172+1211C>G | ClinVar dbSNP |