TABLE 4.

De novo and recessive variants in ASD patients detected in genes with substantial evidence of involvement in ASD.

Patient ID	Protein	Gene	CADD score	Mode of inheritance	dbSNP ID	gnomAD frequency**%	gnomAD homozygous count	SFARI genes score	ASD Evidence∀
34	p.G724R	SMURF1 NM_181349.3	29.90	De Novo	956288312	0.003	0	2	De Rubeis et al. (2014)
34	p.P280S	NAALAD2 NM_001300930.2	26.10	Recessive	200163147	0.012	0	NA	-
47	p.G355E	TRAF3IP1 NM_015650.4	29.60	Recessive	560016209	0.012	0	NA	Bizet et al. (2015)
47	p.V160A	KCNK9 NM_001282534.2	25.70	De Novo	NA	NA	NA	NA	Delgado et al. (2014)

Summary de novo and recessive variants identified in each patient with ASD., Identified variant(s) per family separated by borderline. Reported genes as the Reference Sequence (RefSeq) name and accession numbers. NA, indicates novel variants not previously reported in the gnomAD or SFARI, databases. ** Reported gnomAD, frequency was observed out of 141,456 individuals. ^*** SFARI, Gene Score is a ranking system that estimates the strength of evidence of the reported ASD, gene in the SFARI, database, with S = ASD, syndromic category and scores ranging from 1 to 3, with 1 being the higher score indicating the stronger association evidence with ASD. ∀ Genes have been previously associated with or reported in patients with ASD, or neurodevelopmental disorders. ∀ Genes have been previously associated with or reported in patients with ASD, or neurodevelopmental disorders.