Table 1.

Variants found in 92 healthy controls

Chrom X Position (in hg19)	DNA change#	protein change	exon	SNP ID	Domains	in silico modeling prediction
						SIFT	Polyphen	Align-GVGD
130,420,579	c.70C>T	p.R24W	2	COSM1465661	signal peptide	tolerated	benign	probably damaging
130,419,882	c.238A>G	p.I80V	4	Novel	- x -	tolerated	benign	benign
130,419,793	c.327G>T	p.W109C	4	Novel	- x -	tolerated	probably damaging	probably damaging
130,417,192	c.714G>A	p.M238I	6	Novel	- x -	tolerated	benign	benign
130,412,680	c.1811A>C	p.N604T	12	rs146462069	CTC	tolerated	probably damaging	possibly damaging
130,412,680	c.1811A>C	p.N604T	12	rs146462069	CTC	tolerated	probably damaging	possibly damaging
130,412,078	c.2091dupC	p.Thr698Hisfs*24	13	Novel	CTC
130,412,018	c.2147G>A	p.G716E	13	Novel	CTC	tolerated	benign	probably damaging
130,408,107	c.3844delC	p.V1282X	19	Novel	CTC

CTD: C-terminal domain;

^#All DNA changes were found in females in heterozygosity; GVGD Grantham variation / Grantham deviation