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