Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.18619915_18619916del | CA170474 | CDKL5 | c.2325_2326del (p.Lys776AlafsTer24) c.2325_2326del (p.Lys776AlafsTer?) c.2274_2275del (p.Lys759AlafsTer?) c.2193_2194del (p.Lys732AlafsTer?) n.2577_2578del | dbSNP |
X | g.18619913_18619916del | CA294688 | CDKL5 | c.2323_2326del (p.Glu775SerfsTer8) c.2272_2275del (p.Glu758SerfsTer8) c.2191_2194del (p.Glu731SerfsTer8) n.2575_2578del | ClinVar dbSNP |