TABLE 2.

Pathogenic variants identified using whole exome sequencing

Case ID	Gene symbol	Mode of inheritance	Zygosity	Variant		Relevance of variant	Phenotype described before
1	TNNT3	a.d.	Heterozygous	NM_006757.3: c.188G > A	NP_006748.1: p.Arg63His	Known pathogenic variant	Distal arthrogryposis type 2B reported by Sung et al 16
4	RYR1	a.r.	Compound heterozygous	NM_00540: c.5618delA	NP_000531.2: p.Glu1873GlyfsTer57	Novel variant, prediction: pathogenic
				NM_00540: c.10018G > A	NP_000531.2: p.Val3340Met	Novel variant, prediction: pathogenic
6	CNTN1	a.r.	Homozygous	Deletion of exon 2‐15 and 18‐19		Novel variant, prediction: pathogenic
10	GLDN	a.r.	Homozygous	NM_181789.3: c.1423G > C	NP_861454.2: p.Ala475Pro	Known pathogenic variant	Lethal FADS with lung hypoplasia reported by Maluenda et al 15
16	HRAS	a.d.	Heterozygous	NM_005343.2: c.183G > C	NP_005334.1:p.Gln61His	Reported in neoplasm, classified: likely pathogenic
18	NEB	a.r.	Homozygous	NM_001164508: c.8867delA	NP_001157980: p.Asp2956IsofsTer6	Novel variant, prediction: pathogenic

Abbreviations: a.d., autosomal dominant; a.r., autosomal recessive.