Table 4. List of the pathogenic and likely pathogenic non-synonymous, splice site and nonsense sequence variants identified.

Gene	Change	# of fam	Status	Polyphen2prediction	Affected		Unaffected
					Carriers	Non-carriers	Carriers	Non-carriers
Pathogenic or likely pathogenic
APP	N660Y	1	Novel	probably damaging	3	0	1	1
					61.6±3	-	62	69
PSEN1	A79V	4	Previously reported Pathogenic	probably damaging	10	1	3	13
					68.9±8.5	77	60±4.3	70.62±12.95
	G206A	3	Previously reported Pathogenic	probably damaging	6	0	0	1
					60.8±6.7	-	-	40
MAPT	G201S	1	Novel	probably damaging	2	0	2	2
					74±0	-	61±5.7	49±4.2
GRN	R110X	1	Previously reported Pathogenic	probably damaging	3	0	0-	5
					66.3±2.1	-	-	72.2±5.26
	c.1414-1G>T	2	Novel	probably damaging	8	1	0	1
					65.8±11.7	74	-	70
	R493X	1	Previously reported Pathogenic	probably damaging	1	3	4	3
					70	78.3±1.15	56.3±4.04	56.3±11.06
	G515A	1	Previously reported Not pathogenic	probably damaging	3	0	0	1
					80±7.5	-	-	66

List of the non-synonymous, splice and nonsense variants identified in the 439 sequenced samples. The identified variants were genotyped in all the available family samples. The number of affected carriers, non-carriers and the un-affected carriers, non-carriers, as well as the mean age at onset and the standard deviation for the affected and the age at last assessment for the unaffected individuals are shown.

The variants were classified as pathogenic, or likely pathogenic based on our segregation analyses, bioinformatic analyses, sequencing and genotyping data in additional cases and controls (table 5) and previous reports.