. 2020 May 8;19:100736. doi: 10.1016/j.ajoc.2020.100736

Table 1.

Putative pathogenic variants obtained from WES analyses.

Gene	Position	Nucleotide change	Amino acid change	Existing variation	MAF	Predictors
Gene	Position	Nucleotide change	Amino acid change	Existing variation	MAF	Condel	SIFT	Polyphen	Fathmm	Fathmm-MKL	LRT	M-CAP	MetaLR	MetaSVM	Mut Asse	Mut Tast	PROVEAN	LoFtool
ARSG	chr17:68307623	c.130G>A	p.Asp44Asn	rs199566950	0.00002 (ExAC)	D	D	D	D	D	D	D	D	D	H	D	–	D
CDCP1	chr3:45091224	c.1942G>A	p.Gly648Ser	rs542744518	0.00001 (ExAC)	D	D	D	T	N	D	D	T	T	M	N	D	B
DTNA	chr18:34765979	c.86G>A	p.Arg29His	rs1249921119	0.00001 (GnomAD)	N	T	PD	T	D	D	D	T	T	L	D	N	D
GRID2IP	chr7:6526599	c.755C>T	p.Pro252Leu			N	D	B	T	D	U	D	T	T	L	D	D	–
GUCY1A2	chr11:106939717	c.949A>G	p.Arg317Gly	rs777157547	0.00001 (ExAC)	D	D	B	D	D	U	D	D	D	L	D	D	D

B: benign, D: damaging/deleterious/disease causing/probably damaging, H: high, L: low, M: medium, MAF: minor allele frequency, N: neutral, PD: possibly damaging, T: tolerated, U: unknown, WES: whole-exome sequencing.