Detected mutation and their prediction of pathogenicity and clinical findings.

Table 1: Detected mutation and their prediction of pathogenicity and clinical findings.

Mutation	Prediction of pathogenicity	Age onset	Initial symptom	Previous publications and/or molgen database
PSEN1 p.H163R	Pathogenic variant	43	Unknown	Yes
PSEN1 p.H163Y	Pathogenic variant	54	Memory deficit	Yes
PSEN1 p.L173F	Pathogenic variant	44	Unknown	Yes
PSEN1 p.V193G	Uncertain significance	53	Obsessive behaviour, paranoid thoughts	No (ExAc browser)
PSEN1 p.I213F	Pathogenic variant	34	Memory deficit	Yes
PSEN1 p.E280A	Pathogenic variant	45	Memory deficit	Yes
PSEN1 p.A431V	Pathogenic variant	61	Unknown	Yes
PSEN2 p.T430M	Pathogenic variant	52	Memory deficit	Yes
PSEN2 c.142-7delC	Uncertain significance	54	Word finding difficulty	No (Novel variant)
PSEN2 p.G34S	Uncertain significance	55	Memory deficit	Yes
PSEN2 p.R62C	Uncertain significance	54	Unknown	Yes