Table 1. Variants identified in this study.

Patient ID	Nucleotide change	Predicted effect	Polyphena	SIFTb	MutPredc	PMutd	Controls frequency (alleles)	Reference of the variation
003–327	c.1113 C>G/+	p.Asp371Glu/+	benign	tolerated	benign	neutral	0/540	This study
003–154, 003–217, 121–847, 121–050, 121–543	c.1133 T>G/+	p.Leu378Arg/+	probably damaging	tolerated	disrupted	pathological	2/540	Langmann et al. [5]
003–218	c.1153 C>G/+	p.Gln385Glu/+	probably damaging	tolerated	benign	neutral	2/540	Langmann et al. [5]
003–189	c.1391 A>G/+	p.His464Arg/+	benign	tolerated	benign	pathological	0/540	This study
003–161, 003–257, 121–385, 012–001	c.1355_6delCA/c.1355_6delCA	p.Thr452SerfsX3/p.Thr452SerfsX3	confirmed mutation				0/540	Bandah-Rozenfeld et al. [6]

+, wild-type allele.

^ahttp://genetics.bwh.harvard.edu/pph2/.

^bhttp://sift.jcvi.org/.

^chttp://mutpred.mutdb.org/

^dhttp://mmb2.pcb.ub.es:8080/PMut/.