Table 2.

Novel variants observed in our patients

Family	Gene name	Mutation at DNA level	Mutation at protein level	Intron/exon number	DANN	HSF	FATHMM	GERP	Mutation taster	Zygosity	ACMG interpretation
F24	DYSF	c.4639-1G > A	–	42	0.99	Most probably affecting splicing	Damaging	5.36	Disease causing	Homo	Pathogenic (PVS1, PM2, PP3)
F28	SGCA	c.427C > A	p.His143Asn	5	0.98	–	Damaging	4.3499	Disease causing	Homo	Likely pathogenic (PS3, PM2, PP3, PP4)
F29	SGCA	c.687-688delTC	p.Leu230Valfs*13	6	–	–	–	5.1399	Disease causing	Homo	Pathogenic (PVS1, PM2, PP4)
F39	SGCB	c.622-1G > C	–	5	0.99	Most probably affecting splicing	Damaging	5.32	Disease causing	Homo	Pathogenic (PVS1, PM2, PP3, PP4)
F40	SGCB	c.753 + 1G > A	–	5	0.99	Most probably affecting splicing	Damaging	5.1199	Disease causing	Homo	Pathogenic (PVS1, PM2, PP3, PP4)