286387 RESULTS
MUTATIONS SORL1 121340782 GRCh37/hg19 rs749389644 G A exon 2 Coding Unknown; predicted deleterious in silico. Unknown. V118M Alzheimer's Disease The variant was found in one of 5198 Alzheimer's cases and one of 4491 controls in a dataset from the Alzheime
MUTATIONS SORL1 121340794 GRCh37/hg19 rs775517202 C G exon 2 Coding Unknown; predicted deleterious in silico. Unknown. R122G Alzheimer's Disease The variant was found in one of 5198 Alzheimer's cases and none of 4491 controls in a dataset from the Alzheim
MUTATIONS SORL1 121340802 GRCh37/hg19 C G Exon 2 Coding Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. Unknown. S124R (C>G) Alzheimer's Disease AGC AGG 124
MUTATIONS SORL1 121340802 GRCh37/hg19 C A Exon 2 Coding Unknown; predicted to be probably damaging by PolyPhen-2, deleterious by SIFT, and disease causing by Mutation Taster. Unknown. S124R (C>A) Alzheimer's Disease AGC AGA 124
MUTATIONS SORL1 121341262 GRCh37/hg19 rs7945931 G A Intron 2 Non-Coding c.402+430G>A Alzheimer's Disease
MUTATIONS SORL1 121342087 GRCh37/hg19 rs11218301 G A Intron 2 Non-Coding c.402+1255G>A Alzheimer's Disease
MUTATIONS SORL1 121343046 GRCh37/hg19 rs3781826 T A Intron 2 Non-Coding c.402+2214T>A Alzheimer's Disease
MUTATIONS SORL1 121344284 GRCh37/hg19 rs33961761 G- Intron 2 Non-Coding c.402+3452G>- Alzheimer's Disease
MUTATIONS SORL1 121348824 GRCh37/hg19 C G Intron 2 Non-Coding c.403-3C>G Alzheimer's Disease
MUTATIONS SORL1 121348834 GRCh37/hg19 T G Exon 3 Coding Unknown; predicted deleterious in silico. Unknown. V137G Alzheimer's Disease The variant was found in one of 5198 Alzheimer's cases and none of 4491 controls in a dataset from the Alzheimer’s Disease
MUTATIONS SORL1 121348846 GRCh37/hg19 A G Exon 3 Coding Unknown; predicted to be probably damaging by PolyPhen-2, deleterious by SIFT, and disease causing by Mutation Taster. Unknown. Y141C Alzheimer's Disease TAT TGT 141
MUTATIONS SORL1 121348860 GRCh37/hg19 A C Exon 3 Coding Unknown; predicted to be benign by PolyPhen-2, tolerated by SIFT, and neutral by Mutation Taster. Unknown. K146Q Alzheimer's Disease AAG CAG 146
MUTATIONS SORL1 121348939 GRCh37/hg19 rs201798962 C T Exon 3 Coding Unknown; predicted to be damaging by MutationTaster, SIFT, and PolyPhen-2. Unknown. A172V Alzheimer's Disease GCG GTG 172
MUTATIONS SORL1 121348942-121348944 GRCh37/hg19 ACA--- Exon 3 Coding Unknown. Unknown. N174del Alzheimer's Disease 174
MUTATIONS SORL1 121348950 GRCh37/hg19 rs546537917 C T exon 3 Coding Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2. Unknown. R176W Alzheimer's Disease This variant was found in one control subject in a sample of 8
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