Table E1.

Rare coding homozygous variants found by exome sequencing

Chr	Position	Ref/Obs	Transcript	cDNA (change)	Gene	Amino acid
1	109,276,144	—/T	ENST00000370017	c.2130_2131insT (frameshift insertion)	FNDC7 (fibronectin type III domain containing 7)	p.K710fs
1	116,280,898	C/T	ENST00000261448	c.G479A (nsSNV)	CASQ2 (calsequestrin 2)	p.R160H
1	120,168,566	G/A	ENST00000421812	c.C158T (nsSNV)	ZNF697 (zinc finger protein 697)	p.P53L
2	216,197,149	A/G	ENST00000236959	c.A733G (nsSNV)	ATIC (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase)	p.N245D
8	42,150,963	C/A	ENST00000520810	c.C321A (stopgain SNV)	IKBKB (inhibitor of kappa light polypeptide gene enhancer in B cells, kinase beta)	p.Y107X