| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647303C>T | CA226621 | CDKL5,RS1 | c.214G>A (p.Glu72Lys) c.2797+1213C>T (n.2797+1213C>T) n.705G>A c.2869+1213C>T (n.2869+1213C>T) c.2788+1213C>T (n.2788+1213C>T) n.3172+1213C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18647303C>G | CA226623 | CDKL5,RS1 | c.214G>C (p.Glu72Gln) c.2797+1213C>G (n.2797+1213C>G) n.705G>C c.2869+1213C>G (n.2869+1213C>G) c.2788+1213C>G (n.2788+1213C>G) n.3172+1213C>G | ClinVar dbSNP |
| X | g.18647303C= | CA2417988271 | CDKL5,RS1 | c.214G= (p.Glu72=) c.2797+1213C= (n.2797+1213C=) n.705G= c.2869+1213C= (n.2869+1213C=) c.2788+1213C= (n.2788+1213C=) n.3172+1213C= | dbSNP |