Table 1. Classification of the type of homozygous variants obtained by linkage analysis and whole exome sequencing.

Type of sequence alteration	SIFT prediction	Number	Annotated SNPs	Novel variants
Nonsense (stop) mutation	-	2	2	0
Amino acid substitution	damaging	114	82	28
Amino acid substitution	tolerated	378	357	21
Silent mutation	-	685	629	56
Intronic or UTR mutation	-	1031	924	107
Frameshift deletion	-	4	3	1
Frameshift insertion	-	2	2	0
In-frame deletion	-	5	5	0
In-frame duplication	-	4	3	1
In-frame insertion	-	1	1	0
Upstream and downstream mutations	-	101	96	5