| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18647296C>A | CA226631 | CDKL5,RS1 | c.221G>T (p.Gly74Val) c.2797+1206C>A (n.2797+1206C>A) n.712G>T c.2869+1206C>A (n.2869+1206C>A) c.2788+1206C>A (n.2788+1206C>A) n.3172+1206C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18647296C= | CA2417988265 | CDKL5,RS1 | c.221G= (p.Gly74=) c.2797+1206C= (n.2797+1206C=) n.712G= c.2869+1206C= (n.2869+1206C=) c.2788+1206C= (n.2788+1206C=) n.3172+1206C= | dbSNP |