83 RESULTS
MUTATIONS PSEN1 73659432 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but levels of AD biomarkers in proband's CSF (Aβ42, tau, phospho-tau) were in the pathological range. M210R
MUTATIONS PSEN1 73659417_73659419 GRCh37/hg19 TTG--- Exon 7 Deletion Coding Unknown, but in silico algorithms predicted damaging Unknown F205_G206delinsC Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation is a deletion of the last two nucleo
MUTATIONS PSEN1 73653619 GRCh37/hg19 T A Exon 6 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect Unknown I180N Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identified in a French stu
MUTATIONS PSEN1 73640285 GRCh37/hg19 C A Exon 5 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown, but CSF biomarkers (Aβ42, tau, and phospho-tau) were in the AD pathological range in one case. P117Q Alzheimer�
MUTATIONS PSEN1 73637748 GRCh37/hg19 G T Exon 4 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown G111W Alzheimer's Disease: Likely PathogenicAlzheimer's Disease This mutation was identified in a French
MUTATIONS PSEN1 73637680 GRCh37/hg19 C A Exon 4 Point, Missense Coding Unknown, but multiple in silico algorithms predicted a damaging effect. Unknown P88H Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identified in a screen of
MUTATIONS PSEN1 73637668 GRCh37/hg19 T C Exon 4 Point, Missense Coding Unknown. In silico predicted deleterious (CADD-PHRED score = 24). Neuropathology consistent with AD. Severe CAA, no Lewy bodies observed. M84T Alzheimer's Disease: Not ClassifiedAlzheimer&#
MUTATIONS PSEN1 73659513 GRCh37/hg19 T G Exon 7 Point, Missense Coding Unknown. Evolutionarily conserved codon across species and between human PSEN1 and PSEN2. Unknown. F237C Alzheimer's Disease: Not ClassifiedAlzheimer's Disease This mutation was identi
