Table 1.

Pathogenic variant identified in CCM2 gene by NGS-customized gene panel sequencing

Gene	cDNA	Predicted protein	Location	MAF		dbSNP/HGMD	Reference
				ExAC	gnomAD
CCM2 NM_031443.3	c.55C > T	p.Arg19Ter	Exon 2	0.000008	0.000004	rs755800734@CM056304	[8]