. 2019 Jul 24;2:270. doi: 10.1038/s42003-019-0503-6

Table 2.

Rare variants identified from whole exome sequencing

	Gene	Chr	Region	RefSeq	Mutation
	Gene	Chr	Region	RefSeq	Nucleotide	Amino acid	Inheritance^a	HGMD2017^b	Reported phenotype	SNP	MAF	SIFT^c/ PolyPhen2^d/ Mutation Taster^e
Homozygous recessive	SLC26A7	8	92378817	NM_001282356.1	c.1498C > T	p.Gln500Ter	P	ND	Anion transporter	rs774517670	0.0001173	−/−/D
Homozygous recessive	SLC26A7	8	92378817	NM_001282356.1	c.1498C > T	p.Gln500Ter	M	ND	Anion transporter	rs774517670	0.0001173	−/−/D
Compound heterozygous	NEB	2	152420386	NM_001164508	c.18530G > A	p.Arg6177His	M	ND	Nemaline myopathy	rs147159176	0.01702	D/P/P
			152520260		c.5565C > A	p.Asp1855Glu	M	ND		rs200468391	0.002325	T/B/P
			152347020		c.25163G > A	p.Arg8388His	P	ND		rs139333406	0.001589	D/P/D
			152512681		c.6481G > A	p.Arg2161Cys	P	ND		rs201758329	0.0001167	T/P/P
	ZNF655	7	99171018	NM_001083956	c.1392G > A	p.Met464IIe	M	ND	Zinc finger protein	ND	0.0004623	B/T/P
	ZNF655	7	99170144	NM_001083956	c.518T > C	p.Phe173Ser	P	ND	Zinc finger protein	rs149822831	0.0156	D/P/D
	FOCAD	9	20990349	NM_017794	c.5232G > A	N/A	M	ND	Adenomatous polyposis coli	rs80118002	0.002143	T/B/D
	FOCAD	9	20923667	NM_017794	c.2861C > T	p.Pro954Leu	P	ND	Adenomatous polyposis coli	rs200166806	0.006023	D/P/D
	GOLGA8K	15	32685249	ENST00000512626	c.1711C > T	p.His571Tyr	M	ND	ND	ND	ND	D/P/D
	GOLGA8K	15	32688635	ENST00000512626	c.984G > C	p.Lys328Asn	P	ND	ND	rs200425540	ND	T/B/P

^aInheritance is described as M, Maternal; P, Paternal; M−, mother does not carry

^bHGMD 2017 are described as DM, disease causing mutation

^cSIFT are described as D, deleterious; T, tolerated

^dPolyPhen-2 are described as D, probably damaging; P, possibly damaging; B, benign

^eMutation Taster are described as D, disease causing; P, polymorphism. Chr, chromosome. MAF, from ExAC (East Asia). N/A, not applicable (no amino acid change)