Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing

Table 1

List of low frequency functional variants in the three linked ROH regions.

Locus	Gene name	cDNA nucleotide; change	AA change	rsnumber	MAF	Clinvar
3p24.1-22.2	GLB1	c.601C>T	p.Arg201Cys	rs72555360	0.0002	Damaging
13q33.2-34	MYO16	c.4199C>T	p.Ala1400Val	rs7995379	0.0060	Benign
	ING1	c.374T>G	p.Leu125Arg	rs199777754	0.0010	Benign
15q22.2-25.1	FBXL22	c.132G>C	p.Glu44Asp	rs142301663	0.0030	Benign
	LCTL	c.155C>T	p.Thr52Met	rs141474589	0.0030	Benign
	IQCH	c.2794G>C	p.Val932Leu	rs3985641	0.0020	Benign
	C15orf39	c.2834G>A	p.Gly945Asp	rs3743211	0.0500	Benign
	CHRNA5	c.488C>T	p.Pro163Leu	rs55863434	0.0003	Benign
	FAH	c.565G>A	p.Val189Ile	rs145389125	0.0020	Benign