Table 1. Rare non-synonymous CLN8 variations identified by resequencing.

dbSNP ID	Position a	Allele b	Exon	Protein	GERP	Function prediction		CADD	MAF
						PolyPhen-2	SIFT		HGVD	1K (JPT)
-	1719291	G/A	2	R24H	5.09	Probably damaging	Tolerated	25.7	-	-
rs201670636	1719337	T/G	2	F39L	-9.35	Probably damaging	Tolerated	9.4	0.0020	0.0060
rs116605307	1719510	G/A	2	R97H	-7.78	Benign	Tolerated	0.7	0.0013	0
rs143701028	1719543	C/T	2	T108M	5.06	Possibly damaging	Tolerated	22.6	-	0.0060
rs138581191	1719675	A/G	2	N152S	3.9	Possibly damaging	Tolerated	2.8	0.0023	-

CADD, Combined Annotation Dependent Depletion; GERP, Genomic Evolutionary Rate Profiling; 1K, 1000 Genomes; HGVD, the Human Genetic Variation Database; JPT, Japanese in Tokyo; MAF, mutant allele frequency.

^aPosition on chromosome 8 according to GRCh37.

^bReference/mutant allele.