Table 1.

Germline RECQL4 variants identified in the index case

Gene	Chr	Location	Exon	HGVS DNA	HGVS protein	Variant type	dbSNP ID	Genotype	Parent of origin	Variant allele frequency	Coverage	Clinical significance in ClinVar	Comments
RECQL4	8	144,514,983	9	c.1573delT	p.Cys525Alafs*33	Frameshift	Rs386833845	Heterozygous	Mother	0.277	90	P	Mother is heterozygous
RECQL4	8	144,513,269	15	c.2412_ 2420del	p.Ala805_Arg807del	In-frame deletion	Rs766312203	Heterozygous	Father	0.308	13	VUS	Father is homozygous