Table 2 PIK3CD missense mutations identified in the two patients

Nucleotide change

c.3061 G > A

c.2314G > A

Amino acid change

p.E1021K

p.G772S

Exon

24

18

ExAC

−

0.0002

gnomAD_exome

−

0.0002

SIFT

Damaging

Tolerated

PolyPhen

Possibly damaging

Benign

GERP +  + 

Conserved

Nonconserved

Mutation Taster

Disease causing

Polymorphism

CADD phred

24.7

11.82

ACMG Classification

Pathogenic

Likely benign