Table 2 Pathogenicity of missense mutations within our current sample of individuals with the CDKL5 disorder

c.38 T > C

p.Phe13Ser

Deleterious (0)

Disease-causing (0.999)

Probably damaging (0.999)

Benign (C0)

c.58G > C

p.Gly20Arg

Deleterious (0)

Disease-causing (1)

Probably damaging (0.985)

Benign (C0)

c.119C > T

p.Ala40Val

Tolerated (0.12)

Disease-causing (0.999)

Probably damaging (0.999)

Benign (C0)

c.191 T > C

p.Leu64Pro

Deleterious (0)

Disease-causing (1)

Probably damaging (1)

Benign (C0)

c.364G > A

p.Ala122Thr

Deleterious (0)

Disease-causing (1)

Probably damaging (0.999)

Likely pathogenic (C55)

c.377G > A

p.Cys126Tyr

Deleterious (0)

Disease-causing (1)

Probably damaging (1)

Pathogenic (C65)

c.395 T > G

p.Val132Gly

Deleterious (0)

Disease-causing (1)

Probably damaging (1)

Pathogenic (C65)

c.428 T > A

p. Ile143Asn

Deleterious (0)

Disease-causing (1)

Possibly damaging (0.9)

Benign (C0)

c.458A > T

p. Asp153Val

Deleterious (0)

Disease-causing (1)

Benign (0.07)

Benign (C0)

c.473G > C

p.Arg158Pro

Deleterious (0)

Disease-causing (1)

Probably damaging (0.999)

Benign (C0)

c.514G > A

p.Val172le

Deleterious (0)

Disease-causing (1)

Probably damaging (0.995)

Benign (C0)

c.526 T > C

p. Trp176Arg

Deleterious (0)

Disease-causing (1)

Probably damaging (0.999)

Benign (C0)

c.532C > T

p.Arg178Trp

Deleterious (0)

Disease-causing (1)

Probably damaging (1)

Benign (C0)

c.536C > T

p. Ser179Phe

Deleterious (0)

Disease-causing (1)

Probably damaging (0.999)

Likely benign (C15)

c.577G > C

p.Asp193His

Deleterious (0)

Disease-causing (1)

Probably damaging (1)

Pathogenic (C65)

c.587C > T

p.Ser196Leu

Deleterious (0)

Disease-causing (1)

Probably damaging (0.976)

Pathogenic (C65)

c.595 T > C

p.Cys199Arg

Deleterious (0)

Disease-causing (1)

Probably damaging (0.999)

Pathogenic (C65)

c.620G > A

p.Gly207Glu

Deleterious (0)

Disease-causing (1)

Probably damaging (1)

Pathogenic (C65)

c.656A > C

p.Gln219Pro

Deleterious (0)

Disease-causing (1)

Probably damaging (0.996)

Pathogenic (C65)

c.680 T > C

p.Leu227Pro

Deleterious (0)

Disease-causing (1)

Probably damaging (0.996)

Pathogenic (C65)

c.2684C > T

p.Pro895Leu

Deleterious (0.03)

Disease causing (1)

Possibly damaging (0.578)

Benign (C0)

c.872G > A

p.Cys291Tyr

Deleterious (0.01)

Disease causing (1)

Probably damaging (0.930)

Benign (C0)

c.215 T > C

p.Ile72Thr

Deleterious (0)

Disease-causing (1)

Possibly damaging (0.578)

Benign (C0)

c.1612A > G

p.Thr538Ala

Deleterious (0.04)

Polymorphism (1)

Benign (0.009)

Benign (C0)

c.526 T > C

p.Trp167Arg

Deleterious (0)

Disease causing (1)

Probably damaging (0.999)

Benign (C0)