Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18584331C>A | CA10360276 | CDKL5 | c.532C>A (p.Arg178=) c.400C>A (p.Arg134=) n.784C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.18584331C>T | CA199283 | CDKL5 | c.532C>T (p.Arg178Trp) c.400C>T (p.Arg134Trp) n.784C>T | ClinVar dbSNP gnomAD v4 |
X | g.18584331C>G | CA412352491 | CDKL5 | c.532C>G (p.Arg178Gly) c.400C>G (p.Arg134Gly) n.784C>G | ClinVar dbSNP |