Table 1.

Genetic features of the individual with PIGN mutations

Position	cDNA change (NM_176787)	Protein change	MAF	MAF-EAS	Mutation taster	SIFT	CADD	Polyphen2	FATHMM	GERP +  +	PhastCons	ClinPred
chr18:59,828,424	163C > T	R55X	4.88e-05	3.0e-04	DC (1.00)	-	D (36)	-	D (0.92)	C (2.83)	C (1.00)	-
chr18:59,824,980	283C > T	R95W	0	0	DC (1.00)	D (0)	D (34)	PD (1.00)	D (0.94)	C (4.51)	C (1.00)	P (0.99)

Abbreviations: C Conserved, CADD Combined annotation dependent depletion, D Damaging, DC Disease causing, Chr Chromosome, MAF Minor allele frequency from Genome Aggregation Database, MAF-EAS Minor allele frequency from East Asia population in Genome Aggregation Database, NA Not applicable, P Pathogenic, PD Probably damaging