Table 3.

In-silico analysis of the missense mutations identified in this study

Family ID	DNA variant; Chromosomal position	Protein change	Grantham	PhyloP	SIFT	PolyPhen-2	CADD score	ExAC Minor allele frequency	Ref.
W13-1504	c.2086T>C; Chr1-197391044T>C	p.Cys696Arg	180	4.73	Del	PD	24	Absent	This study
W13-1504	c.2234C>T; Chr1-197396689C>T	p.Thr745Met	81	4.16	Del	PD	23.6	T=0.000083	[22]
W13-1493	c.3090T>A; Chr1-197404083T>A	p.Asn1030Lys	94	-0.36	Del	PD	18.17	Absent	This study

SIFT, sorting intolerant from tolerant; PolyPhen-2, polymorphism phenotyping; CADD, combined annotation dependent depletion; ExAC, Exome Aggregation Consortium; Del, deleterious; PD, probably damaging