| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18507154G>C | CA170496 | CDKL5 | c.58G>C (p.Gly20Arg) c.-29G>C (n.-29G>C) n.310G>C | ClinVar dbSNP |
| X | g.18507154G>A | CA412489608 | CDKL5 | c.58G>A (p.Gly20Ser) c.-29G>A (n.-29G>A) n.310G>A | ClinVar dbSNP gnomAD v4 |
| X | g.18507154G= | CA2417942973 | CDKL5 | c.58G= (p.Gly20=) c.-29G= (n.-29G=) n.310G= | dbSNP |