TABLE 3.

Rare co-segregating variants in family members.

Gene	Genomic postion	RefSNP	Transcript	AA change	Type	Consequence	MAF		Prediction
							GnomAD	D2K	CADD	SIFT	GERP
CACNA1A	19:13346442C > T	NA	ENST00000360228	p.V1686M	SNV	Missense	0	0	28	D	5.0
CD163L1	12:7521563TGA > T	rs781351459	ENST00000539726	S1RfsX64	DEL	Frameshift	0.3526	0	7.034	NA	NA
OR8U1	11:56143415A > G	NA	ENST00000302270	p.T106A	SNV	Missense	0	0	0.001	T	−7.1

RefSNP, Reference single-nucleotide polymorphism; AA, Amino acid; SNV, Singe nucleotide variant; DEL, Deletion; MAF, Minor allele frequency. GnomAD, Genome Aggregation Database. D2K = 2000 Danish Exomes. CADD, Combined Annotation Dependent Depletion(15). SIFT, Sorting Intolerant from Tolerant(16). D = Deleterious. T = Tolerated. GERP, Genomic Evolutionary Rate Profiling Score (17).