Table 2.

Details of the two novel SYNE1 variants found in this study.

Position (GRCh37/hg19)	Exon (NM_033071.3)	cDNA change (NM_033071.3)	Protein change (NP_149062.1)	Mutation type	dbSNP	1000 genomes	ESP6500	ExAC	gnomAD	Mutation taster	GERP++ RS	CADD phred	ACMG category
6:152542057-6:152542057	118/146	c.21568C>T	p.Arg7190Ter	Non-sense mutation	Novel	Novel	Novel	1.647e-5	4.064e-6	Disease causing	4.75	52	pathogenic
6:152583242-6:152583242	100/146	c.18684G>A	p.Trp6228Ter	Non-sense mutation	Novel	Novel	7.689e-5	8.236e-6	Novel	Disease causing	5.96	59	pathogenic

Details of two novel SYNE1 variants identified in this study. Novel = Absent in the corresponding database. Mutation Taster, GERP++, and CADD are tools of in silico predictive algorithms recommended by ACMG guidelines (29).