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Table 1 Method of whole-exome sequencing and the PPP1CB mutation identified in the patient

From: Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications

Patient ID Variant with NM No. AF in Mutation pathogenicity prediction
1KGP gnomAD Polyphen HDIV score (pred) SIFT_score (pred) LRT score (pred) Mutation Taster score (pred) Reference
LCY03 PPP1CB: NM_206876.1: c.548A > C (p.Glu183Ala) 0.014(B) 0.01(D) 0(D) 0.81 (D) Ma et al. [3].
  1. Pred prediction, AF allele frequency, 1KGP 1000 Genomes Project; gnomAD The Genome Aggregation Database; −, not present, B, benign D deleterious, SIFT sorting intolerant from tolerant, LRT Likelihood Ratio Test