Mutations

SORL1

SORLA, the sortilin-related receptor with type-A repeats, also known by its gene name SORL1 and as LR11, is an endosomal sorting receptor involved in APP and Aβ trafficking, among other functions. Multiple studies have associated rare, putative loss-of-function variants in SORL1 with an increased risk of Alzheimer’s disease.

Click here to see key findings from studies demonstrating associations between damaging variants in SORL1 and risk of AD.

There are no consensus guidelines for assigning pathogenicity to SORL1 missense variants. In order to predict the effects of missense variants, Andersen, Holstege, and colleagues focused on organizational features of SORL1 and on proteins with homologous domains to identify positions in SORL1 where amino acid substitutions are most likely to disrupt SORL1 function and increase AD risk. SORL1 is a modular protein, containing multiple functional domains, which are themselves composed of multiple repeating units. Andersen et al. aligned repeated sequences to identify conserved amino acids likely to be important for protein folding or stability. They then identified residues in SORL1 corresponding to the positions of disease-causing variants in homologous domains of other proteins. Based on these considerations, they predicted which residues, when mutated, are moderately or highly likely to have deleterious effects on SORL1 function and increase AD risk. These predictions were validated in a very large data set (Holstege et al., 2023). Click on the buttons below to view the positions assigned by Andersen et al. as highly or moderately likely to increase AD risk if mutated. (Colored circles show positions that have variants curated in the Alzforum database.)

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Search Results

SORL1 (971)

Mutation	DNA Change	Expected RNA \| Protein Consequence	Coding/Non-Coding	Genomic Region	Neuropathology	Biological Effect	Primary Papers
c.-2484C>A	Substitution		Non-Coding	Upstream of 5′ UTR			Zhang et al., 2015
c.-1287T>C (SNP 1)	Substitution		Non-Coding	Upstream of 5′ UTR			Rogaeva et al., 2007
c.-1204G>T	Substitution		Non-Coding	Upstream of 5′ UTR			Zhang et al., 2015
A2G	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
S6T	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
R7T	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
R11P	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown; predicted to be deleterious by SIFT, neutral by Mutation Taster, and benign by PolyPhen-2.	Sassi et al., 2016
G25R	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
C28Y	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
W31Ter (TGG>TAG)	Substitution	Substitution \| Nonsense	Coding	Exon 1	Unknown.	Introduces a premature stop codon.	Nicolas et al., 2018
W31Ter (TGG>TGA)	Substitution	Substitution \| Nonsense	Coding	Exon 1	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
L35R	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
G38R	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
R46Q	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
G47S	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
G53C	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
D54H	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
P55Rfs (Pro55Argfs*44, c.164del)	Deletion	Deletion \|	Coding	Exon 1	Unknown.	Unknown.	Nicolas et al., 2016
D65Cfs	Deletion	Deletion \|	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
A66D	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
A69Gfs	Insertion	Insertion \|	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
A69Rfs	Deletion	Deletion \|	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
R67S (G>C)	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
R67S (G>T)	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
A69V	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
R71H	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
P76L	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Did not affect the maturation (glycosylation) of SORL1 overexpressed in HEK293 cells. Predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Fernández et al., 2016
R79Gfs	Deletion	Deletion \|	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
P87A	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
K91R	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
V92M	Substitution	Substitution \| Missense	Coding	Exon 1	Unknown.	Unknown.	Holstege et al., 2022
c.285+152G>C (SNP 2)	Substitution		Non-Coding	Intron 1			Rogaeva et al., 2007
c.285+882T>C	Substitution		Non-Coding	Intron 1			Webster et al., 2008
c.285+4534G>A (SNP 3)	Substitution		Non-Coding	Intron 1			Rogaeva et al., 2007
c.285+4712C>A	Substitution		Non-Coding	Intron 1			Lee et al., 2007
c.285+5177A>G	Substitution		Non-Coding	Intron 1			Lin et al., 2017
c.285+5629T>C (SNP 4)	Substitution		Non-Coding	Intron 1		Possible effects on SORL1 expression, but findings inconsistent.	Rogaeva et al., 2007
c.285+5716T>C	Substitution		Non-Coding	Intron 1			Bralten et al., 2011
c.285+6071C>T	Substitution		Non-Coding	Intron 1			Webster et al., 2008
c.285+6762A>G	Substitution		Non-Coding	Intron 1			Lin et al., 2017
c.286-5553T>C	Substitution		Non-Coding	Intron 1			Lin et al., 2017
c.286-4988A>G	Substitution		Non-Coding	Intron 1			McCarthy et al., 2010
c.286-2723G>A	Substitution		Non-Coding	Intron 1			Webster et al., 2008
c.286-483C>T	Substitution		Non-Coding	Intron 1			Webster et al., 2008
N99S	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown, but MRI of carrier showed frontotemporal atrophy.	Unknown.	Li et al., 2020
S101F	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
H102Y	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Unknown.	Holstege et al., 2022
N103H	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Unknown.
M105T	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2. May introduce a phosphorylation site for the serine/threonine kinase PLK1, per computational modeling.	Sassi et al., 2016
S114R	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Rovelet-Lecrux et al., 2021
S114N	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Unknown.
N115N	Substitution	Substitution \| Silent	Coding	Exon 2	Unknown.	Unknown.	Holstege et al., 2017
V116M	Substitution	Substitution \| Missense	Coding	exon 2	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
V118M	Substitution	Substitution \| Missense	Coding	exon 2	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
R122G	Substitution	Substitution \| Missense	Coding	exon 2	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
R122Ter (R122X)	Substitution	Substitution \| Nonsense	Coding	exon 2	Unknown, but amyloid-PET positive. Global atrophy, superficial siderosis, and subcortical microhemorrhages shown by MRI.	Unknown; predicted to be protein truncating.	Alvarez-Mora et al., 2022
S124R (C>G)	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Nicolas et al., 2016
S124R (C>A)	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Unknown; predicted to be probably damaging by PolyPhen-2, deleterious by SIFT, and disease causing by Mutation Taster.	Bellenguez et al., 2017
L127M	Substitution	Substitution \| Missense	Coding	Exon 2	Unknown.	Unknown.
c.402+430G>A	Substitution		Non-Coding	Intron 2			McCarthy et al., 2010
c.402+1255G>A	Substitution		Non-Coding	Intron 2			McCarthy et al., 2010
c.402+2214T>A	Substitution		Non-Coding	Intron 2			Bralten et al., 2011
c.402+3452G>-	Deletion		Non-Coding	Intron 2			Lin et al., 2017
c.403-3C>G	Substitution		Non-Coding	Intron 2		Unknown.	Holstege et al., 2017
V137G	Substitution	Substitution \| Missense	Coding	Exon 3	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
S138F	Substitution	Substitution \| Missense	Coding	Exon 3	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
D140N	Substitution	Substitution \| Missense	Coding	Exon 3	A carrier clinically diagnosed with Lewy body disease exhibited Alzheimer’s pathology, cerebral amyloid angiopathy, and Lewy body pathology.	Unknown; predicted to be probably damaging by PolyPhen-2, tolerated by SIFT, and disease-causing by Mutation Taster.	Verheijen et al., 2016; Andersen et al., 2023
Y141C	Substitution	Substitution \| Missense	Coding	Exon 3	Unknown.	Unknown; predicted to be probably damaging by PolyPhen-2, deleterious by SIFT, and disease causing by Mutation Taster.	Pottier et al., 2012
K146Q	Substitution	Substitution \| Missense	Coding	Exon 3	Unknown.	Unknown; predicted to be benign by PolyPhen-2, tolerated by SIFT, and neutral by Mutation Taster.	Verheijen et al., 2016
P171S	Substitution	Substitution \| Missense	Coding	Exon 3	Unknown.	Unknown.
A172V	Substitution	Substitution \| Missense	Coding	Exon 3	Unknown.	Unknown; predicted to be damaging by MutationTaster, SIFT, and PolyPhen-2.	Bellenguez et al., 2017
N174del	Deletion	Deletion \| Deletion	Coding	Exon 3	Unknown.	Unknown.	Vardarajan et al., 2015
R176W	Substitution	Substitution \| Missense	Coding	exon 3	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
c.528+159A>G (SNP 5)	Substitution		Non-Coding	Intron 3			Rogaeva et al., 2007
c.528+4125T>G	Substitution		Non-Coding	Intron 3	Unknown.	Unknown.	Bellenguez et al., 2022
c.529-2562A>G	Substitution		Non-Coding	Intron 3			Bralten et al., 2011
c.529-1773C>T	Substitution		Non-Coding	Intron 3			McCarthy et al., 2010
c.529-380G>A	Substitution		Non-Coding	Intron 3			McCarthy et al., 2010
c.529-2A>G	Substitution		Non-Coding	Intron 3	Unknown.	Unknown; predicted to be deleterious by Mutation Taster.	Campion et al., 2019
A180P	Substitution	Substitution \| Missense	Coding	Exon 4	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
A182T	Substitution	Substitution \| Missense	Coding	Exon 4	Unknown.	Unknown.
F191S	Substitution	Substitution \| Missense	Coding	Exon 4	Unknown.	Unknown; predicted to be tolerated by SIFT, neutral by Mutation Taster, and benign by PolyPhen-2.	Holstege et al., 2017
R205Q	Substitution	Substitution \| Missense	Coding	Exon 4	Unknown.	Unknown; predicted to be possibly damaging by PolyPhen-2, tolerated by SIFT, and disease causing by Mutation Taster.	Verheijen et al., 2016
L219P	Substitution	Substitution \| Missense	Coding	Exon 4	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
R224G	Substitution	Substitution \| Missense	Coding	Exon 4			Holstege et al., 2022
R224T	Substitution	Substitution \| Missense	Coding	Exon 4	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
Q230R	Substitution	Substitution \| Missense	Coding	Exon 4	Unknown.	Unknown.
c.690+363T>C	Substitution		Non-Coding	Intron 4			Webster et al., 2008
K233R	Substitution	Substitution \| Missense	Coding	Exon 5	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
D236G	Substitution	Substitution \| Missense	Coding	Exon 5	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
E246Dfs	Deletion	Deletion \|	Coding	Exon 5			Holstege et al., 2022
c.758+65T>A (SNP 6)	Substitution		Non-Coding	Intron 5			Rogaeva et al., 2007
c.758+196G>A	Substitution		Non-Coding	Intron 5			Webster et al., 2008
c.758+1497G>A	Substitution		Non-Coding	Intron 5			Webster et al., 2008
c.758+3184A>G	Substitution		Non-Coding	Intron 5			Webster et al., 2008
c.759-2763A>C	Substitution		Non-Coding	Intron 5			Reynolds et al., 2013
c.759-2615A>G	Substitution		Non-Coding	Intron 5			Lin et al., 2017
c.759-1888T>C	Substitution		Non-Coding	Intron 5			Lin et al., 2017
c.759-1858G>T	Substitution		Non-Coding	Intron 5			Reynolds et al., 2013
c.759-2del	Deletion		Non-Coding	Intron 5	Unknown.	Unknown.	Holstege et al., 2022
N262S	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
I266V	Substitution	Substitution \| Missense	Coding	Exon 6		Unknown; predicted to be tolerated.	Holstege et al., 2022; Andersen et al., 2023
R268Ter (R268X)	Substitution	Substitution \| Nonsense	Coding	Exon 6	Unknown.	Unknown; predicted to be disease-causing by Mutation Taster.	Nicolas et al., 2016
H269H (SNP 7)	Substitution	Substitution \| Silent	Coding	Exon 6	Some carriers had autopsy-confirmed AD.	Predicted tolerated in silico. Levels of wild-type and H269H transcripts were similar in prefrontal cortices from AD donors, suggesting that this variant does not alter expression of SORL1.	Rogaeva et al., 2007
E270K	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Reduced binding affinity to APP, compared with wild-type SORL1, resulting in more APP at the cell surface and increased secretion of Aβ40, Aβ42, sAPPα and sAPPβ. Enlarged endosomes.	Vardarajan et al., 2015
Y274H	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
V277L	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown.	Andersen et al., 2023
R279Ter (R279X)	Substitution	Substitution \| Nonsense	Coding	Exon 6	Autopsy-confirmed Alzheimer’s disease (Braak stage 6) in one carrier.	Introduces a premature stop codon; predicted to be disease-causing by Mutation Taster.	Raghavan et al., 2018
R279L	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown.
D282N	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019; Andersen et al., 2023
F283L	Substitution	Substitution \| Missense	Coding	Exon 6	Unkonwn.	Unkonwn.	Holstege et al., 2022
F284V	Substitution	Substitution \| Missense	Coding	Exon 6	Unkonwn.	Unkonwn.	Holstege et al., 2022
R287W	Substitution	Substitution \| Missense	Coding	Exon 6	Unkonwn.	Unkonwn.	Holstege et al., 2022
R287Q	Substitution	Substitution \| Missense	Coding	Exon 6	Unkonwn.	Unkonwn.
L294F	Substitution	Substitution \| Missense	Coding	Exon 6	Unkonwn.	Unkonwn.	Holstege et al., 2022
V297M	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown; predicted to be disease-causing by Mutation Taster, probably damaging by PolyPhen-2, damaging by SIFT, and neutral by PROVEAN.	El Bitar et al., 2019
R303W	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Fernández et al., 2016
M307V	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown.	Verheijen et al., 2016; Andersen et al., 2023
M307R	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown.	Andersen et al., 2023
V312A	Substitution	Substitution \| Missense	Coding	Exon 6	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
c.939+163C>T (SNP 8)	Substitution		Non-Coding	Intron 6		Does not affect SORL1 protein levels in brains of AD subjects but may affect SORL1 expression in response to BDNF.	Rogaeva et al., 2007
c.939+405A>G	Substitution		Non-Coding	Intron 6			Bralten et al., 2011
c.939+1492A>G	Substitution		Non-Coding	Intron 6			Webster et al., 2008
c.939+2958C>T	Substitution		Non-Coding	Intron 6			Yin et al., 2016
c.939+3362G>A (SNP 9)	Substitution		Non-Coding	Intron 6		Reported to affect SORL1 expression in brains of young people but not AD patients; affected SORL1 expression in response to BDNF in hIPSC-derived neurons from AD cases.	Rogaeva et al., 2007
c.940-7761A>G	Substitution		Non-Coding	Intron 6			Wen et al., 2013
c.940-6917C>T	Substitution		Non-Coding	Intron 6			Reynolds et al., 2013
c.940-2747C>T (SNP 10)	Substitution		Non-Coding	Intron 6		No effect on SORL1 protein levels in AD brains, but affected SORL1 expression in response to BDNF in hIPSC-derived neurons from AD cases.	Rogaeva et al., 2007
c.940-841A>G	Substitution		Non-Coding	Intron 6			Webster et al., 2008
H314Y	Substitution	Substitution \| Missense	Coding	Exon 7	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
H314L	Substitution	Substitution \| Missense	Coding	Exon 7	Unknown.	Unknown; predicted tolerated in silico.	Holstege et al., 2017
L316F	Substitution	Substitution \| Missense	Coding	Exon 7	Unknown.	Unknown.
V324L	Substitution	Substitution \| Missense	Coding	Exon 7	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2.	Verheijen et al., 2016
R332W	Substitution	Substitution \| Missense	Coding	Exon 7	Unknown.	Impairs maturation (glycosylation) of SORL1 and trafficking to the plasma membrane, accompanied by increased release of Aβ.	Nicolas et al., 2016
H344P	Substitution	Substitution \| Missense	Coding	Exon 7	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
c.1041+34A>G	Substitution		Non-Coding	Intron 7			Holstege et al., 2017
Y350Ter (Y350fs*)	Deletion	Deletion \|	Coding	Exon 8	Unknown.	Unknown.	Verheijen et al., 2016
I351V	Substitution	Substitution \| Missense	Coding	Exon 8			Holstege et al., 2022
I351I	Substitution	Substitution \| Nonsense	Coding	Exon 8	Unknown.	Unknown.	Holstege et al., 2017
A352T	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown.
S355S	Substitution	Substitution \| Silent	Coding	Exon 8	Unknown.	Unknown.	Holstege et al., 2017
V361Cfs (V361fs)	Duplication	Duplication \|	Coding	Exon 8	Unknown.	Unknown.	Campion et al., 2019
V361L	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown; predicted to be deleterious by PolyPhen-2 and Mutation Taster, but likely benign by Mendelian Clinically Applicable Pathogenicity.	Sun et al., 2021; Andersen et al., 2023
N367D	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
N368S	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown.	Holstege et al., 2022
R369C	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown.	Holstege et al., 2022
R369H	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown.	Holstege et al., 2022
N371D	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown.
N371S	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown.
N371T	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Vardarajan et al., 2015
A377T	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown.
G379W	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown, but MRI of two carriers diagnosed with AD showed hippocampal and cortical atrophy.	Unknown; predicted to be deleterious.	Xiromerisiou et al., 2021; Andersen et al., 2023
F382L	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown; predicted to be deleterious.	Holstege et al., 2022; Andersen et al., 2023
V389M	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
Y391C	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown, but predicted to be deleterious	Fernández et al., 2016
G398S	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
G398C	Substitution	Substitution \| Missense	Coding	Exon 8	Unknown.	Unknown, but predicted to be deleterious.	Holstege et al., 2022; Andersen et al., 2023
c.1211+2T>G	Substitution		Non-Coding	Intron 8	Unknown.	Ex vivo splicing assays confirmed in silico predictions that this variant affects splicing, generating aberrant transcripts containing premature stop codons.	Nicolas et al., 2016
c.1212-1864T>G (SNP 11)	Substitution		Non-Coding	Intron 8		Did not associate with levels of SORL1 transcripts in cortices of neurologically normal individuals.	Rogaeva et al., 2007
P410T	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
P410L	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
H415Q	Substitution	Substitution \| Missense	Coding	Exon 9			Holstege et al., 2022
R416G	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Fernández et al., 2016
R416Ter (R416X)	Substitution	Substitution \| Nonsense	Coding	Exon 9	Unknown.	Introduces a premature stop codon; predicted to be disease-causing by Mutation Taster.	Verheijen et al., 2016
R416Q	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Sassi et al., 2016
R416L	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown.	Holstege et al., 2022
E418Ter	Substitution	Substitution \| Nonsense	Coding	Exon 9	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
I425V	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown, but predicted to be tolerated.	Holstege et al., 2022; Andersen et al., 2023
L428P	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown.	Holstege et al., 2022
G447Rfs (G447Rfs*22)	Duplication	Duplication \|	Coding	Exon 9	Unknown.	Reduced levels of SORL1 mRNA, measured in lymphoblast cells from the carrier of this variant.	Verheijen et al., 2016
G448E	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown.	Holstege et al., 2022
A455G	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown.	Holstege et al., 2022
T459K	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown; predicted to be tolerated by SIFT but deleterious by Mutation Taster and PolyPhen-2.	Fernández et al., 2016
T459M	Substitution	Substitution \| Missense	Coding	Exon 9			Holstege et al., 2022
N466D	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
C467Y	Substitution	Substitution \| Missense	Coding	Exon 9	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
c.1404+5T>C	Substitution		Non-Coding	Intron 9			Holstege et al., 2017
c.1405-69C>T (SNP 12)	Substitution		Non-Coding	Intron 9			Rogaeva et al., 2007
C473S	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown; predicted to be deleterious.	Nicolas et al., 2016; Andersen et al., 2023
S474C	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown; predicted to be deleterious.	Holstege et al., 2017; Andersen et al., 2023
H476R	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown.	Holstege et al., 2022
R480C	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown; predicted to be deleterious.	Verheijen et al., 2016; Andersen et al., 2023
R480P	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Sassi et al., 2016
N486S	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown.
Q488Ter	Substitution	Substitution \| Nonsense	Coding	Exon 10	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
R490W	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
R490Q	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Fernández et al., 2016
I494F	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
S499W	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown.	Holstege et al., 2022
S499L	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown.	Holstege et al., 2022
L503I	Substitution	Substitution \| Missense	Coding	Exon 10	Unknown.	Unknown.	Holstege et al., 2022
G508S	Substitution	Substitution \| Missense	Coding	Exon 10/11	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
c.1523-47C>A	Substitution		Non-Coding	Intron 10			Holstege et al., 2017
c.1523-29T>G	Substitution		Non-Coding	Intron 10			Holstege et al., 2017
S509Ter	Substitution	\| Nonsense	Non-Coding	Exon 11	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
G511R	Substitution	Substitution \| Missense	Coding	Exon 11	Unknown.	Abolished binding of Aβ to the SORL1 VPS10P domain and slowed the intracellular breakdown of Aβ. Resulted in enlarged endosomes and increased secretion of Aβ40, Aβ42.	Pottier et al., 2012
K512N	Substitution	Substitution \| Missense	Coding	Exon 11	Unknown.	Unknown.	Holstege et al., 2022
N513S	Substitution	Substitution \| Missense	Coding	Exon 11	Unknown.	Unknown.
L514V	Substitution	Substitution \| Missense	Coding	Exon 11	Unknown.	Unknown.	Holstege et al., 2022
S516N	Substitution	Substitution \| Missense	Coding	Exon 11	Unknown.	Unknown.	Lin et al., 2017
V520M	Substitution	Substitution \| Missense	Coding	Exon 11	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019; Andersen et al., 2023
A528T (SNP 13)	Substitution	Substitution \| Missense	Coding	Exon 11	Unknown.	Reduced binding to APP, compared with wild-type SORL1, when expressed in HEK293 cells. In microglia-like cells derived from human ESCs, the A528T mutation led to an accumulation of cell-surface and early endosomal proteins, increased levels of APOE, and APOE-isoform-dependent effects on Aβ phagocytosis.	Rogaeva et al., 2007
c.1596+16C>T	Substitution		Non-Coding	Intron 11			Holstege et al., 2017
c.1596+589C>T	Substitution		Non-Coding	Intron 11			Lin et al., 2017
c.1596+3740T>C	Substitution		Non-Coding	Intron 11			Reynolds et al., 2013
c.1597-4663T>G	Substitution		Non-Coding	Intron 11			Bralten et al., 2011
c.1597-4595G>A	Substitution		Non-Coding	Intron 11			Bralten et al., 2011
c.1597-2411C>T	Substitution		Non-Coding	Intron 11			Bralten et al., 2011
G543E	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Nicolas et al., 2016
D544G	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown.
H545D	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown.	Holstege et al., 2022
G546V	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
A551A	Substitution	Substitution \| Silent	Coding	Exon 12	Unknown.	Unknown; predicted tolerated in silico.	El Bitar et al., 2019
I552V	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown; predicted to be tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster.	Holstege et al., 2017
I552S	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown.	Holstege et al., 2022
Q554E	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown.
G555R	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown.	Holstege et al., 2022
M556V	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
T558S	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
N559S	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown; predicted in silico to be tolerated.	Sassi et al., 2016
E560K	Substitution	Substitution \| Missense	Coding	Exon 12	Unknown.	Unknown; predicted in silico to be tolerated.	Verheijen et al., 2016
c.1685+1290T>C	Substitution		Non-Coding	Intron 12			Webster et al., 2008
c.1685+3447T>C (SNP 14)	Substitution		Non-Coding	Intron 12			Rogaeva et al., 2007
c.1685+4694T>C	Substitution		Non-Coding	Intron 12			Reynolds et al., 2013
c.1686-3216A>G	Substitution		Non-Coding	Intron 12			Lin et al., 2017
c.1686-1992A>G	Substitution		Non-Coding	Intron 12			Lin et al., 2017
c.1686-222C>T	Substitution		Non-Coding	Intron 12			Lin et al., 2017
c.1686-28A>T	Substitution		Non-Coding	Intron 12			Holstege et al., 2017
S564G	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Rovelet-Lecrux et al., 2021; Andersen et al., 2023
N566S	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.	Andersen et al., 2023
T570I	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown; predicted to be deleterious.	Holstege et al., 2022; Andersen et al., 2023
F574L	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
S577P	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Impaired maturation (glycosylation) of SORL1 overexpressed in HEK293 cells or expressed at endogenous levels in human iPSCs.	Verheijen et al., 2016
V581G	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2	Holstege et al., 2017
V583M	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown, but substitution of the hydrophobic valine residue with a hydrophobic methionine is predicted to be tolerated.	Holstege et al., 2022; Andersen et al., 2023
V583L	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown, but substitution of the hydrophobic valine residue with a hydrophobic leucine is predicted to be tolerated.	Fernández et al., 2016; Andersen et al., 2023
V583V	Substitution	Substitution \| Nonsense	Coding	Exon 13	Unknown.	Unknown.	Holstege et al., 2017
G585D	Substitution	Substitution \| Missense	Coding	Exon 13			Holstege et al., 2022
T588I	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	More APP at the cell surface and elevated levels of Aβ42, sAPPα, and sAPPβ in the media of cells expressing the T588I variant, compared with cells expressing wild-type SORL1.	Cuccaro et al., 2016
E589G	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.
E592K	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.	Holstege et al., 2022
T595I	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.	Holstege et al., 2022
I599V	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.	Holstege et al., 2022
S602L	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Nicolas et al., 2018
E605D	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
V607F	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
Q614H	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.	Fernández et al., 2016
V615F	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
A617V	Substitution	Substitution \| Missense	Coding	Exon 13	Unknown.	Unknown.	Holstege et al., 2022
c.1864+21A>C	Substitution		Non-Coding	Intron 13			Lin et al., 2017
c.1864+41G>T (SNP 15)	Substitution		Non-Coding	Intron 13		Did not associate with levels of SORL1 protein in AD brains.	Rogaeva et al., 2007
c.1865-640C>T	Substitution		Non-Coding	Intron 13			Webster et al., 2008
c.1865-2A>C	Substitution		Non-Coding	intron 13	Unknown.	Unknown; predicted to be deleterious by Mutation Taster.	Campion et al., 2019
V623A	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
S636T	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be tolerated by SIFT but deleterious by Mutation Taster and PolyPhen-2.	Verheijen et al., 2016
R639G	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.
R639W	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.	Holstege et al., 2022
R639L	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.	Holstege et al., 2022
R639Q	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2.	Verheijen et al., 2016
E642K	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2.	Verheijen et al., 2016
E642A	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
H647Tfs (p.(Gly646fs))	Deletion	Deletion \|	Coding	Exon 14	Unknown.	This single-nucleotide deletion results in a frameshift.	Nicolas et al., 2016
R653Q	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
R654W	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Impairs maturation (glycosylation) of SORL1 and trafficking to the plasma membrane.	Nicolas et al., 2016
R654Q	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.	Holstege et al., 2022
P656S	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.
T659Sfs (T659Sfs*30)	Deletion	Deletion \|	Coding	Exon 14	Unknown.	Unknown.	Verheijen et al., 2016
P656R	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.
T659A	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.
C660Afs	Deletion	Deletion \|	Coding	Exon 14	Unknown.	Unknown.	Holstege et al., 2022
N662S	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.	Holstege et al., 2022
P669L	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Fernández et al., 2016
V670A	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
V672M	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown.	Holstege et al., 2022
N674S	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be deleterious by PolyPhen-2 and Mutation Taster, but tolerated by SIFT.	Verheijen et al., 2016
R679W	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Fernández et al., 2016
R679Q	Substitution	Substitution \| Missense	Coding	Exon 14	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Holstege et al., 2017
c.2051+49A>C	Substitution		Non-Coding	Intron 14			Bralten et al., 2011
c.2051+690T>G	Substitution		Non-Coding	Intron 14			Bralten et al., 2011
c.2051+986G>A	Substitution		Non-Coding	Intron 14			Bralten et al., 2011
G687S	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown.	Fernández et al., 2016
K689Q	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
S695S	Substitution	Substitution \| Nonsense	Coding	Exon 15	Unknown.	Unknown.	Holstege et al., 2017
V700A	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown.
P703L	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown.	Holstege et al., 2022
P712Lfs	Deletion	Deletion \|	Coding	Exon 15	Unknown.	This single-nucleotide deletion results in a frameshift.	Holstege et al., 2022
P712T	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown.
C716W	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
V718M	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown.	Holstege et al., 2022
G719V	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
Y722C	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
T725M	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Sassi et al., 2016
T725K	Substitution	Substitution \| Missense	Coding	Exon 15	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
c.2180+29G>C	Substitution		Non-Coding	Intron 15	Unknown.	Unknown.	Holstege et al., 2017
c.2181-10G>A	Substitution		Non-Coding	Intron 15	Unknown.	Unknown.	Holstege et al., 2022
R729W	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Nicolas et al., 2016
R729Q	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Holstege et al., 2017
D734N	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
C736Y	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted to be deleterious.	Nicolas et al., 2018; Andersen et al., 2023
G738R (G>A)	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
G738R (G>C)	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
G738Ter	Substitution	Substitution \| Nonsense	Coding	Exon 16	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
D740E	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown.	Holstege et al., 2022
A743V	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted tolerated in silico.	Verheijen et al., 2016
R744Ter (R744X)	Substitution	Substitution \| Nonsense	Coding	Exon 16	Unknown.	Microglia-like cells derived from human embryonic stem cells made homozygous for the R744Ter mutation lacked SORL1.	Holstege et al., 2017
R744Q	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown.
E748D	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown.
V750I	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted to be tolerated by SIFT, neutral by Mutation Taster, and probably damaging by PolyPhen-2.	Verheijen et al., 2016
P751S	Substitution	Substitution \| Missense	Coding	Exon 16	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
C752Sfs (C752Sfs*22)	Deletion	Deletion \|	Coding	Exon 16	Unknown.	This two-nucleotide deletion results in a frameshift and the introduction of a premature stop codon.	Verheijen et al., 2016
c.2266+590A>C	Substitution		Non-Coding	Intron 16			Bralten et al., 2011
c.2267-1094C>T	Substitution		Non-Coding	Intron 16			Lin et al., 2017
c.2267-1006G>A	Substitution		Non-Coding	Intron 16			Reitz et al., 2013
E759K	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
L762P	Substitution	Substitution \| Missense	Coding	Exon 17	Carrier had autopsy-confirmed AD; amyloid plaques, neurofibrillary tangles, gliosis, and prominent neuron loss in cortex, hippocampus, and amygdala.	Unknown; predicted deleterious in silico.	Verheijen et al., 2016
A764A	Substitution	Substitution \| Nonsense	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2017
V765L	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2022
R771C	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
L774R	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2022
S776L	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
E780Sfs	Deletion	Deletion \|	Coding	Exon 17	Unknown.	This single-nucleotide deletion results in a frame shift.	Holstege et al., 2022
T779T	Substitution	Substitution \| Silent	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2017
E780K	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2022
P783L	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown.
G786R	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Holstege et al., 2017
R788W	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted deleterious in silico.	Rovelet-Lecrux et al., 2021
A789V	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2022
L793R	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
H799Y	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
W804Ter (W804X)	Substitution	Substitution \| Nonsense	Coding	Exon 17		Introduces a premature stop codon.	Schramm et al., 2022
W804C	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
S805S	Substitution	Substitution \| Nonsense	Coding	Exon 17	Unknown.	Unknown.	Nicolas et al., 2018
D806N	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Nicolas et al., 2016
L807P	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown; predicted deleterious in silico.	Verheijen et al., 2016
V811I	Substitution	Substitution \| Missense	Coding	Exon 17	Unknown.	Unknown.	Holstege et al., 2022
c.2439+64G>A	Substitution		Non-Coding	Intron 17			Reitz et al., 2013
c.2440-15C>T	Substitution		Non-Coding	Intron 17			Holstege et al., 2017
R814C	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
R814H	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted deleterious.	Fernández et al., 2016; Andersen et al., 2023
L815F	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown.	Holstege et al., 2022
N818K (T>G)	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
N818K (T>A)	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
Q823Ter (Q823X)	Substitution	Substitution \| Nonsense	Coding	Exon 18	Unknown.	Introduces a premature stop codon.	Schramm et al., 2022
E824Q	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown.
V825V	Substitution	Substitution \| Silent	Coding	Exon 18	Unknown.	Unknown.	Nicolas et al., 2018
N828S	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted tolerated in silico.	Sassi et al., 2016
G830D	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
T833T (SNP 16)	Substitution	Substitution \| Silent	Coding	Exon 18	Unknown.	Unknown.	Rogaeva et al., 2007
V834A	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown.	Holstege et al., 2022
A838T	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
L845R	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
W848Ter (W848X)	Substitution	Substitution \| Nonsense	Coding	Exon 18	Unknown.	Introduces a premature stop codon.	Gómez-Tortosa et al., 2018
D850Qfs	Deletion	Deletion \|	Coding	Exon 18	Unknown.	This four-nucleotide deletion results in a frame shift.	Campion et al., 2019
D850V	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
G852R	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
G852A	Substitution	Substitution \| Missense	Coding	Exon 18	Unknown.	Unknown.	Gómez-Tortosa et al., 2018
c.2571+15G>A	Substitution		Non-Coding	Intron 18			Reitz et al., 2013
c.2571+180T>G (SNP 17)	Substitution		Non-Coding	Intron 18			Rogaeva et al., 2007
c.2571+843T>A	Substitution		Non-Coding	Intron 18			Webster et al., 2008
D862G	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown.	Holstege et al., 2022
R866Ter (R866X)	Substitution	Substitution \| Nonsense	Coding	Exon 19	Unknown.	Introduces a premature stop codon.	Raghavan et al., 2018
T868Kfs	Deletion	Deletion \|	Coding	Exon 19	Unknown.	This deletion, resulting in a frame shift, is predicted to be protein truncating.	Nicolas et al., 2016
I869V	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown; predicted to be tolerated.	Holstege et al., 2022; Andersen et al., 2023
V870I	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown.	Verheijen et al., 2016; Andersen et al., 2023
R877C	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Predicted to be damaging by SIFT, Mutation Taster, and PolyPhen-2.	Rovelet-Lecrux et al., 2021
V882I	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
L883F	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
V884M	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown; predicted tolerated in silico.	Verheijen et al., 2016
P885T	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Verheijen et al., 2016
E887G	Substitution	Substitution \| Missense	Coding	Exon 19	Unknown.	Unknown; predicted to be benign by PolyPhen-2, but deleterious by SIFT.	Vardarajan et al., 2015
c.2664-521A>G	Substitution		Non-Coding	Intron 19			Lin et al., 2017
M890V	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
M890I	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
T893R	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
P900S	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
R904W	Substitution	Substitution \| Missense	Coding	Exon 20	Amyloid plaques, neurofibrillary tangles, limited CAA.	Unknown; predicted deleterious in silico.	Tejada Moreno et al., 2022
R904Q	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
M907V	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.	Holstege et al., 2022
S910F	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
N924S	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious.	Pottier et al., 2012; Andersen et al., 2023
D929Y	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
D929D	Substitution	Substitution \| Nonsense	Coding	Exon 20	Unknown.	Unknown.	Holstege et al., 2017
D930N	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
W932Ter (W932X)	Substitution	Substitution \| Nonsense	Coding	Exon 20			Schramm et al., 2022
W932C	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.	Holstege et al., 2022
I933T	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
Y934C	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Rovelet-Lecrux et al., 2021; Andersen et al., 2023
T936M	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
C942G	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Verheijen et al., 2016
I943V	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
R945W	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
R945Q	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.
I946V	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
T947M	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Impairs SORL1 trafficking to the cell surface and weakens SORL1’s interaction with the EphA4 receptor tyrosine kinase.	Vardarajan et al., 2015
R953C	Substitution	Substitution \| Missense	Coding	Exon 20	Amyloid plaques, neurofibrillary tangles, and TDP-43 inclusions.	Impairs maturation (glycosylation) and disrupts trafficking of SORL1.	Fazeli et al., 2023
R953H	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.	Holstege et al., 2022
L957P	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
N959K	Substitution	Substitution \| Missense	Coding	Exon 20	Unknown.	Unknown.
P961Rfs	Deletion	Deletion \|	Coding	Exon 20	Unknown.	This single-nucleotide deletion introduces a frame shift.	Holstege et al., 2022
H962Afs	Duplication	Duplication \|	Coding	Exon 20	Unknown.	This single-nucleotide insertion introduces a frame shift.
H962Pfs (H962Pfs*45)	Deletion	Deletion \|	Coding	Exon 20	Unknown.	Compared with iPSC-derived neurons from a control subject, cells from the mutation carrier expressed half the amount of SORL1 protein and exhibited enlarged endosomes.	Holstege et al., 2017
c.2911-39C>T	Substitution		Non-Coding	Intron 20			Holstege et al., 2017
Q980R	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Verheijen et al., 2016
Q980L	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown.	Holstege et al., 2022
I983Yfs	Deletion	Deletion \|	Coding	Exon 21	Unknown.	This single-nucleotide deletion results in a frame shift.
F984L	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown.
R985Ter (R985X)	Substitution	Substitution \| Nonsense	Coding	Exon 21	Unknown.	Unknown.	Fernández et al., 2016
A986T	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Rovelet-Lecrux et al., 2021
M994L	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown.
E995G	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
N999D	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown; predicted tolerated in silico.	Rovelet-Lecrux et al., 2021
G1003Hfs (G1003Hfs*37)	Duplication	Duplication \|	Coding	Exon 21	Unknown.	This four-nucleotide insertion results in a frameshift and the introduction of a premature stop codon.	Holstege et al., 2017
T1002M	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
M1005I	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown.
G1013R	Substitution	Substitution \| Missense	Coding	Exon 21	Unknown.	Unknown.
c.3049+988A>T (SNP 18)	Substitution		Non-Coding	Intron 21			Rogaeva et al., 2007
c.3049+1921C>A	Substitution		Non-Coding	Intron 21			Liu et al., 2017
c.3049+2117G>C	Substitution		Non-Coding	Intron 21			Bralten et al., 2011
c.3049+3427T>C	Substitution		Non-Coding	Intron 21			Reitz et al., 2013
c.3050-3221T>C	Substitution		Non-Coding	Intron 21			Bralten et al., 2011
c.3050-3093C>T	Substitution		Non-Coding	Intron 21			Webster et al., 2008
c.3050-2179G>A	Substitution		Non-Coding	Intron 21
c.3050-2062T>C	Substitution		Non-Coding	Intron 21			Webster et al., 2008
c.3050-1379G>T	Substitution		Non-Coding	Intron 21
c.3050-382A>T	Substitution		Non-Coding	Intron 21			Lin et al., 2017
c.3050-96G>A	Substitution		Non-Coding	Intron 21	Unknown.	Unknown.	Holstege et al., 2022
c.3050-78A>G	Substitution		Non-Coding	Intron 21			Lin et al., 2017
G1017_E1074del (c.3050-2A > G)	Substitution	\| Deletion	Non-Coding	Intron 21	Unknown.	Causes exon 22 skipping. At the protein level, the mutation is expected to result in an in-frame deletion of amino acids 1017–1074, which would completely remove the epidermal growth factor-like domain of SORL1.	Thonberg et al., 2017
N1019S	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown.
A1020V	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
V1022L	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown.	Holstege et al., 2022
C1026R	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
L1028V	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown.
C1030Sfs	Deletion	Deletion \|	Coding	Exon 22	Unknown.	This single-nucleotide deletion results in a frame shift.
N1035S	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
R1041M	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown.	Holstege et al., 2022
R1041S	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown; predicted tolerated in silico.	Vardarajan et al., 2015
S1048N	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
D1055E	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown.
Y1064C	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
Q1074E	Substitution	Substitution \| Missense	Coding	Exon 22	Unknown.	Unknown; predicted tolerated in silico.	Vardarajan et al., 2015
c.3223+1359G>A	Substitution		Non-Coding	Intron 22			Webster et al., 2008
c.3224-1201T>C	Substitution		Non-Coding	Intron 22			Reitz et al., 2013
N1076S	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown.
T1077N	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
R1080C	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted deleterious.	Fernández et al., 2016; Andersen et al., 2023
R1080H	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
N1081N	Substitution	Substitution \| Silent	Coding	Exon 23	Unknown.	Unknown.	Holstege et al., 2017
R1084C	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Predicted deleterious. Structural modeling suggests a change in secondary structure and misfolding of the protein.	El Bitar et al., 2019
R1084H	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Verheijen et al., 2016
I1091V	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown.	Sassi et al., 2016; Andersen et al., 2023
S1093G	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown.
I1094V	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Holstege et al., 2017
W1095C	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted deleterious.	Rovelet-Lecrux et al., 2021; Andersen et al., 2023
W1096G	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown.	Holstege et al., 2022
F1099L	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted to be tolerated by SIFT and benign by PolyPhen-2, but disease-causing by Mutation Taster.	Vardarajan et al., 2015
D1100N	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown	El Bitar et al., 2019; Andersen et al., 2023
C1103Vfs (C1103Vfs*4)	Deletion	Deletion \|	Coding	Exon 23	Unknown.	Single-nucleotide deletion resulting in a frameshift and the introduction of a premature stop codon.	Verheijen et al., 2016
G1104R	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown.
D1105H	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2017; Andersen et al., 2023
M1106L	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
D1108N	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
C1112Y	Substitution	Substitution \| Missense	Coding	Exon 23	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
P1113A	Substitution	Substitution \| Missense	Coding	Exon 23-24	Unknown.	Unknown.
P1113S	Substitution	Substitution \| Missense	Coding	Exon 23-24	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Verheijen et al., 2016
c.3337+1G>A	Substitution		Non-Coding	Intron 23	Unknown.	This variant affects a splice-donor site.
c.3337+10C>T	Substitution		Non-Coding	Intron 23			Holstege et al., 2017
c.3337+541A>G	Substitution		Non-Coding	Intron 23			Webster et al., 2008
c.3337+1210A>G	Substitution		Non-Coding	Intron 23			Webster et al., 2008
c.3337+1640A>G	Substitution		Non-Coding	Intron 23			Bralten et al., 2011
c.3338-1913G>A	Substitution		Non-Coding	Intron 23			Bralten et al., 2011
I1116V	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown; predicted tolerated in silico.	Vardarajan et al., 2015
D1120Y	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
F1123L	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
R1124S	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
R1124C	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
Q1126R	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
P1133L	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown.	Holstege et al., 2022
Y1136C	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown.
E1141G	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
D1142Y	Substitution	Substitution \| Missense	Coding	Exon 24
D1146N	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Predicted deleterious.	Rovelet-Lecrux et al., 2021; Andersen et al., 2023
S1148R	Substitution	Substitution \| Missense	Coding	Exon 24	Unknown.	Unknown.	Holstege et al., 2023; Andersen et al., 2023
c.3460+12T>C	Substitution		Non-Coding	Intron 24			Holstege et al., 2017
c.3460+13C>T	Substitution		Non-Coding	Intron 24			Holstege et al., 2017
c.3460+202C>T	Substitution		Non-Coding	Intron 24			Liu et al., 2017
c.3460+868A>G	Substitution		Non-Coding	Intron 24			Bralten et al., 2011
c.3460+987C>A	Substitution		Non-Coding	Intron 24			Bralten et al., 2011
c.3461-1442T>C	Substitution		Non-Coding	Intron 24			Webster et al., 2008
c.3461-1177C>G	Substitution		Non-Coding	Intron 24			Lin et al., 2017
c.3461-979C>T	Substitution		Non-Coding	Intron 24			Liu et al., 2017
c.3461-897C>T	Substitution		Non-Coding	Intron 24			Lin et al., 2017
c.3461-802T>C	Substitution		Non-Coding	Intron 24			Liu et al., 2017
c.3461-419G>A	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-401C>T	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-360T>G	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-357A>G	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-320T>G	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-317C>G	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-303A>G	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-275G>A	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
c.3461-142G>A	Substitution		Non-Coding	Intron 24	Unknown.	Unknown.	Holstege et al., 2022
H1156H	Substitution	Substitution \| Silent	Coding	Exon 25	Unknown.	Unknown.	Holstege et al., 2017
Q1157R	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown.
R1159W	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
D1161E	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
S1167Y	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
S1167S	Substitution	Substitution \| Nonsense	Coding	Exon 25	Unknown.	Unknown.	Holstege et al., 2017
G1168V	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
M1169I	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown.	Holstege et al., 2022
I1171V	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown.
R1172C	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
R1172H	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
C1177Y	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
N1181N	Substitution	Substitution \| Silent	Coding	Exon 25	Unknown.	Unknown.	Holstege et al., 2017
D1182N	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
S1187S (SNP 19)	Substitution	Substitution \| Silent	Coding	Exon 25	Unknown, but associated with functional connectivity in an imaging study of Chinese subjects.	Predicted tolerated in silico. Might influence SORL1 expression in a region- and disease-dependent manner.	Rogaeva et al., 2007
C1192Y	Substitution	Substitution \| Missense	Coding	Exon 25	Unknown, but MRI of carrier showed whole-brain atrophy that was particularly prominent in the medial temporal lobes and hippocampi.	Unknown; predicted deleterious.	Cao et al., 2021; Andersen et al., 2023
A1194T	Substitution	Substitution \| Missense	Coding	Exon 25/26	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
c.3580+2T>A	Substitution		Non-Coding	Intron 25	Unknown.	Unknown.	Holstege et al., 2022
c.3580+2T>C	Substitution		Non-Coding	Intron 25	Unknown.	Unknown.
c.3580+74C>G (SNP 20)	Substitution		Non-Coding	Intron 25			Rogaeva et al., 2007
c.3580+145G>A	Substitution		Non-Coding	Intron 25			Reitz et al., 2013
c.3580+229G>A	Substitution		Non-Coding	Intron 25			Bralten et al., 2011
c.3580+2223G>A	Substitution		Non-Coding	Intron 25			Lin et al., 2017
c.3581-2615G>A	Substitution		Non-Coding	Intron 25			Liu et al., 2017
c.3581-2354T>G	Substitution		Non-Coding	Intron 25			Liu et al., 2017
c.3581-2241T>C	Substitution		Non-Coding	Intron 25			Webster et al., 2008
c.3581-2227C>T	Substitution		Non-Coding	Intron 25			Webster et al., 2008
c.3581-2189C>G	Substitution		Non-Coding	Intron 25			Marioni et al., 2018
c.3581-2133A>G	Substitution		Non-Coding	Intron 25			Webster et al., 2008
c.3581-1516T>A	Substitution		Non-Coding	Intron 25			Webster et al., 2008
c.3581-650T>G	Substitution		Non-Coding	Intron 25			Reitz et al., 2013
c.3581-460C>T	Substitution		Non-Coding	Intron 25			Bralten et al., 2011
c.3581-26G>A	Substitution		Non-Coding	Intron 25			Holstege et al., 2017
c.3581-18C>G (SNP 21)	Substitution		Non-Coding	Intron 25			Rogaeva et al., 2007
c.3581-1G>T	Substitution		Non-Coding	Intron 25			Fernández et al., 2016
Y1196C	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
A1201S	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown.
R1207Ter (R1207X)	Substitution	Substitution \| Nonsense	Coding	Exon 26	Unknown.	Unknown; predicted deleterious in silico.	Sassi et al., 2016
R1207Q	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted tolerated in silico.	Vardarajan et al., 2015
G1209R	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
P1213S	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown, but MRI of carrier showed mild brain atrophy.	Predicted to be deleterious by Mutation Taster, Polyphen-2, and PROVEAN, but tolerated by SIFT. In silico modeling showed a change in protein folding and secondary structure.	El Bitar et al., 2019
W1216Ter (W1216X)	Substitution	Substitution \| Nonsense	Coding	Exon 26	Unknown.	Unknown.	Nicolas et al., 2016
D1219G	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted deleterious.	Nicolas et al., 2016; Andersen et al., 2023
G1220R	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted deleterious.	Bellenguez et al., 2017
D1221Y	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown.
T1222M	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted tolerated in silico.	Holstege et al., 2017
T1222T	Substitution	Substitution \| Nonsense	Coding	Exon 26	Unknown.	Unknown.	Holstege et al., 2017
C1224Y	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
P1232A	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown.	Holstege et al., 2022
V1233G	Substitution	Substitution \| Missense	Coding	Exon 26	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral by Mutation Taster and benign by PolyPhen-2.	Sassi et al., 2016
c.3707-11T>C	Substitution		Non-Coding	Intron 26			Holstege et al., 2017
c.3707-1G>A	Substitution		Non-Coding	Intron 26	Unknown.	Unknown.	Campion et al., 2019
R1243C	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted deleterious.	Nicolas et al., 2016; Andersen et al., 2023
R1243P	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
P1245L	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
N1246N (SNP 22)	Substitution	Substitution \| Silent	Coding	Exon 27	Unknown, but T allele associated with atrophy of the right middle temporal pole in a sample of non-demented Han Chinese, assessed with MRI.	Predicted tolerated in silico. In a set of autopsy specimens from Caucasian donors with AD, the level of SORL1 protein in the frontal cortex was lower in carriers of the SNP 22 C allele, in a gene-dose-dependent manner.	Rogaeva et al., 2007
N1246K	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster.	Campion et al., 2019
C1249S	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
H1255Y	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted to be deleterious by SIFT, PolyPhen-2, and Mutation Taster.	Bellenguez et al., 2017
G1258S	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2017
R1260C	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
D1261G	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
D1267N	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
D1267E	Substitution	Substitution \| Missense	Coding	Exon 27	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
Q1269Ter (Q1269X)	Substitution	Substitution \| Nonsense	Coding	Exon 27	Unknown.	Unknown.	Bellenguez et al., 2017
c.3814+10T>G	Substitution		Non-Coding	Intron 27			Holstege et al., 2017
P1273S	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
C1275S	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
T1276M	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious in silico.	Verheijen et al., 2016
T1276T	Substitution	Substitution \| Silent	Coding	Exon 28	Unknown.	Unknown.	Holstege et al., 2017
M1279V	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Holstege et al., 2017
M1279I (G>A)	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown.	Holstege et al., 2022
M1279I (G>T)	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown.
R1286C	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
R1286L	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown.	Holstege et al., 2022
F1291L	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Verheijen et al., 2016
M1294T	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious.	Bellenguez et al., 2017; Andersen et al., 2023
G1298R	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016
Q1301H	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted to be benign by PolyPhen-2.	Vardarajan et al., 2015; Andersen et al., 2023
C1302Afs	Deletion	Deletion \|	Coding	Exon 28	Unknown.	Unknown.	Vardarajan et al., 2015
C1302R	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown.	Andersen et al., 2023
R1303C	Substitution	Substitution \| Missense	Coding	Exon 28	The two carriers who came to autopsy met the CERAD criteria for AD and were Braak stages V-VI.	Using a proximity ligation assay, co-localization of SORL1 and APP was similar in mutation carriers and controls, but less than that seen in sporadic AD.	Thonberg et al., 2017
D1304D	Substitution	Substitution \| Silent	Coding	Exon 28	Unknown.	Unknown.	Holstege et al., 2017
G1305E	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
D1309N	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
D1309A	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
A1310E	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown.
A1310V	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted to be tolerated by SIFT, neutral by Mutation Taster, and possibly damaging by PolyPhen-2.	Verheijen et al., 2016
A1311G	Substitution	Substitution \| Missense	Coding	Exon 28	Unknown.	Unknown; predicted tolerated in silico.	Verheijen et al., 2016
c.3946+2T>C	Substitution		Non-Coding	Intron 28	Unknown.	Unknown; predicted to be deleterious by Mutation Taster.	Campion et al., 2019
c.3946+5G>T	Substitution		Non-Coding	Intron 28	Unknown.	Unknown.	Holstege et al., 2022
c.3946+5G>A	Substitution		Non-Coding	Intron 28	Unknown.	Unknown.	Holstege et al., 2022
c.3946+5G>C	Substitution		Non-Coding	Intron 28	Unknown.	Unknown.	Holstege et al., 2022
c.3947-3_3947-2insG	Insertion		Non-Coding	Intron 28	Unknown.	Affects splicing, generating aberrant transcripts containing premature stop codons.	Bellenguez et al., 2017
Q1317Ter	Substitution	Substitution \| Nonsense	Coding	Exon 29	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
E1320Sfs	Deletion	Deletion \|	Coding	Exon 29	Unknown.	Frame shift.	Holstege et al., 2022
H1322N	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Verheijen et al., 2016
K1323E	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
E1327D	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown.
F1328V	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown.
G1329S	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
C1344R	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
D1345N	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted deleterious.	Fernández et al., 2016
D1345D	Substitution	Substitution \| Nonsense	Coding	Exon 29	Unknown.	Unknown.	Holstege et al., 2017
G1346R	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown.
M1347L	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
D1348G	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
G1351S	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
N1358S	Substitution	Substitution \| Missense	Coding	Exon 29	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Pottier et al., 2012
E1360K	Substitution	Substitution \| Missense	Coding	Exon 29/30	Unknown.	Unknown.	Holstege et al., 2022
c.4078+225T>C	Substitution		Non-Coding	Intron 29			Reitz et al., 2013
c.4079-85G>A	Substitution		Non-Coding	Intron 29			Lin et al., 2017
c.4079-43C>G	Substitution		Non-Coding	Intron 29			Holstege et al., 2017
c.4079-39T>TG	Insertion		Non-Coding	Intron 29			Holstege et al., 2017
c.4079-1G>C	Substitution		Non-Coding	Intron 29	Unknown.	Predicted splice-acceptor variant.
E1360G	Substitution	Substitution \| Missense	Coding	Exon 29/30	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
N1367D	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown.
R1370H	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown.
Y1371C	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019
Q1373R	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown.	Holstege et al., 2022
Q1373H	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted to be deleterious by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2.	Bellenguez et al., 2017
F1374L	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted deleterious in silico.	Vardarajan et al., 2015; Andersen et al., 2023
N1378S	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
G1379D	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016
N1384Dfs (N1384Dfs*48)	Deletion	Deletion \|	Coding	Exon 30	Unknown.	Results in a frameshift and the introduction of a premature stop codon.	Holstege et al., 2017
R1385G	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown.	Holstege et al., 2022
D1389V	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted deleterious.	Nicolas et al., 2016; Andersen et al., 2023
R1390G	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted tolerated in silico.	Sassi et al., 2016
N1392N	Substitution	Substitution \| Silent	Coding	Exon 30	Unknown.	Unknown; predicted tolerated in silico.	T Cuenco et al., 2008
N1392K	Substitution	Substitution \| Missense	Coding	Exon 30	Unknown.	Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster.	Rovelet-Lecrux et al., 2021
c.4213+1G>A	Substitution		Non-Coding	Intron 30	Unknown.	Unknown.	Schramm et al., 2022
c.4213+66A>G	Substitution		Non-Coding	Intron 30	Unknown.	Unknown.	Liu et al., 2017
c.4214-143G>A	Substitution		Non-Coding	Intron 30	Unknown.	Unknown.	Holstege et al., 2022
c.4214-117G>C	Substitution		Non-Coding	Intron 30	Unknown.	Unknown.	Wen et al., 2013
L1409F	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but benign by PolyPhen-2 and tolerated by SIFT.	Verheijen et al., 2016
S1412L	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
T1418M	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.	Holstege et al., 2022
L1420V	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
N1422S	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown. Predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2. Splicing prediction software indicated that this variant might introduce a novel 3’ splice site, leading to a loss of 52 base pairs and a frameshift.	Bellenguez et al., 2017
Y1423H	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.	Holstege et al., 2022
Y1424C	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
R1425H	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.
C1431Wfs	Deletion	Deletion \|	Coding	Exon 31	Unknown.	Unknown; results in a frame shift and the introduction of a premature stop codon.	Kunkle et al., 2017
T1435S	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated by SIFT and benign by PolyPhen-2.	Vardarajan et al., 2015
D1439N	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.
G1440R (G>A)	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2017; Andersen et al., 2023
G1440R (G>C)	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
G1440V	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
Y1441H	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
Y1441C	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted deleterious.	Sassi et al., 2016; Andersen et al., 2023
R1442Ter (R1442X)	Substitution	Substitution \| Nonsense	Coding	Exon 31	Unknown.	This protein-truncating variant was predicted to be disease-causing by Mutation Taster.	Verheijen et al., 2016
R1442G	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.	Holstege et al., 2022
G1447S	Substitution	Substitution \| Missense	Coding	Exon 31	Carrier had autopsy-confirmed AD (amyloid plaques, neurofibrillary tangles, gliosis, and neuron loss), as well as diffuse amyloid angiopathy and Lewy bodies and Lewy neurites in the amygdala.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
A1452G	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.
C1453F	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
C1453S	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
P1454S	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2.	Verheijen et al., 2016
L1455W	Substitution	Substitution \| Missense	Coding	Exon 31	Unknown.	Unknown.	Holstege et al., 2022
c.4369+5G>A	Substitution		Non-Coding	Intron 31	Unknown.	Unknown.	Holstege et al., 2022
c.4369+13C>T	Substitution		Non-Coding	Intron 31			Holstege et al., 2017
c.4369+2223G>A	Substitution		Non-Coding	Intron 31			Webster et al., 2008
c.4370-1386A>G	Substitution		Non-Coding	Intron 31			Webster et al., 2008
V1459I	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be tolerated in silico.	Sassi et al., 2016
S1463F	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown.
T1464A	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown.
T1464P	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown.
Q1467H	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be tolerated in silico.	Sassi et al., 2016
R1470Ter	Substitution	Substitution \| Nonsense	Coding	Exon 32	Unknown, but amyloid-PET positive. Cortical and hippocampal atrophy and cerebral small vessel disease shown by MRI.	Unknown; predicted to be protein truncating.	Alvarez-Mora et al., 2022
R1470L	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Verheijen et al., 2016
R1470Q	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
D1472G	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown.
E1477K	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
C1478S	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted deleterious.	Rovelet-Lecrux et al., 2021; Andersen et al., 2023
C1478Ter (C1478X)	Substitution	Substitution \| Nonsense	Coding	Exon 32	Unknown.	Difference in expression between the wild-type and mutant alleles in blood cells from the carrier of the variant, consistent with nonsense-mediated mRNA decay of the mutant transcript.	Pottier et al., 2012
P1481A	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown.
P1481L	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Verheijen et al., 2016
P1481R	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
T1483A	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be benign by PolyPhen-2.	Fernández et al., 2016
T1483M	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster.	Verheijen et al., 2016
R1490C	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
R1490L			Coding		Unknown.	Unknown.	Holstege et al., 2022
R1490H	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and benign by PolyPhen-2.	Sassi et al., 2016
G1493S	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted deleterious.	Sassi et al., 2016; Andersen et al., 2023
G1493D	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
H1494R	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
C1497Y	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
R1501W	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster.	Holstege et al., 2017
D1502G	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022
A1504D	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted tolerated in silico.	Verheijen et al., 2016
N1505S	Substitution	Substitution \| Missense	Coding	Exon 32	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
P1507S	Substitution	Substitution \| Missense	Coding	Exon 32/33	Unknown.	Unknown.	Holstege et al., 2022
c.4519+1G>A	Substitution		Non-Coding	Intron 32			Bellenguez et al., 2017
c.4519+5G>A	Substitution		Non-Coding	Intron 32	Carrier had amyloid plaques, neurofibrillary tangles, cerebral amyloid angiopathy, TDP-43 cytoplasmic inclusions in neurons.	Unknown; predicted to cause exon skipping.	Alvarez-Mora et al., 2022
c.4519+1775C>T	Substitution		Non-Coding	Intron 32			Reitz et al., 2013
c.4519+2811G>A	Substitution		Non-Coding	Intron 32			Liu et al., 2017
c.4519+3500C>T	Substitution		Non-Coding	Intron 32			Liu et al., 2017
c.4519+3954A>G	Substitution		Non-Coding	Intron 32			Liu et al., 2017
c.4519+4139C>G	Substitution		Non-Coding	Intron 32			Liu et al., 2017
c.4519+4165C>T	Substitution		Non-Coding	Intron 32			Liu et al., 2017
c.4520-1909G>A	Substitution		Non-Coding	Intron 32			Bralten et al., 2011
c.4520-1511T>C	Substitution		Non-Coding	Intron 32			Webster et al., 2008
c.4520-1304T>C	Substitution		Non-Coding	Intron 32			Webster et al., 2008
c.4520-877T>C	Substitution		Non-Coding	Intron 32			Liu et al., 2017
c.4520-663A>G	Substitution		Non-Coding	Intron 32			Bralten et al., 2011
c.4520-13C>G	Substitution		Non-Coding	Intron 32			Holstege et al., 2017
T1508S	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.	Holstege et al., 2022
H1509L	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.	Holstege et al., 2022
S1510N	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.	Holstege et al., 2022
T1511Lfs	Deletion	Deletion \|	Coding	Exon 33	Unknown.	This two-nucleotide deletion results in a frame shift.	Holstege et al., 2022
T1511I	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.	Vardarajan et al., 2015
C1521R	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
E1522K	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.	Verheijen et al., 2016
E1525Gfs	Insertion	Insertion \|	Coding	Exon 33	Unknown.	This single-nucleotide insertion introduces a frame shift.	Holstege et al., 2022
A1526S	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.	Holstege et al., 2017
S1531Rfs	Deletion	Deletion \|	Coding	Exon 33	Unknown.	This single-nucleotide deletion results in a frame shift.	Holstege et al., 2022
C1534Ter	Substitution	Substitution \| Nonsense	Coding	Exon 33	Unknown.	Unknown.	Raghavan et al., 2018
D1535N	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Rovelet-Lecrux et al., 2021
D1535D	Substitution	Substitution \| Nonsense	Coding	Exon 33	Unknown.	Unknown.	Holstege et al., 2017
G1536S	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted deleterious.	Vardarajan et al., 2015; Andersen et al., 2023
G1536D	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted deleterious.	Campion et al., 2019; Andersen et al., 2023
C1540S	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
S1541Wfs	Deletion	Deletion \|	Coding	Exon 33	Unknown.	This single-nucleotide deletion results in a frame shift.	Holstege et al., 2022
S1541L	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
E1543D	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.	Verheijen et al., 2016
D1545N	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted deleterious.	Rovelet-Lecrux et al., 2021; Andersen et al., 2023
D1545G	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
D1545E	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Bellenguez et al., 2017; Andersen et al., 2023
A1548T	Substitution	Substitution \| Missense	Coding	Exon 33	Carrier had autopsy-confirmed AD (amyloid plaques, neurofibrillary tangles, gliosis, and neuron loss), as well as diffuse amyloid angiopathy.	Unknown; predicted tolerated in silico.	Verheijen et al., 2016
S1550G	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown; predicted deleterious in silico.	Bellenguez et al., 2017
D1551V	Substitution	Substitution \| Missense	Coding	Exon 33	Unknown.	Unknown.
W1563C	Substitution	Substitution \| Missense	Coding	Exon 34	Unknown.	Unknown.	Verheijen et al., 2016; Andersen et al., 2023
T1564A	Substitution	Substitution \| Missense	Coding	Exon 34	Unknown.	Unknown.	Holstege et al., 2022
D1566H	Substitution	Substitution \| Missense	Coding	Exon 34	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
T1574S	Substitution	Substitution \| Missense	Coding	Exon 34	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
W1575Ter	Substitution	Substitution \| Nonsense	Coding	Exon 34	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
K1579Q	Substitution	Substitution \| Missense	Coding	Exon 34	Unknown.	Unknown.	Holstege et al., 2022
A1584A (SNP 23)	Substitution	Substitution \| Silent	Coding	Exon 34	Unknown.	Unknown, but no effect on SORL1 transcript levels in prefrontal cortices of AD cases or controls.	Rogaeva et al., 2007
R1593S	Substitution	Substitution \| Missense	Coding	Exon 34/35	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
V1594M	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted tolerated in silico.	Verheijen et al., 2016
I1599M	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.	Holstege et al., 2022
E1604G	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
T1605S	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.	Holstege et al., 2022
N1611K	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
T1612A	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
V1616L	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
L1617V	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.	Andersen et al., 2023; Holstege et al., 2023
P1619Q	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.	Andersen et al., 2023; Holstege et al., 2023
D1620V	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Holstege et al., 2017
T1622M	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
Q1628Ter	Substitution	Substitution \| Nonsense	Coding	Exon 35	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
Q1628R	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.	Holstege et al., 2022
K1634M	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.	Du et al., 2019
N1637T	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.
N1639Y	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown.	Holstege et al., 2022
V1642M	Substitution	Substitution \| Missense	Coding	Exon 35	Unknown.	Unknown; predicted to be deleterious by SIFT and PolyPhen-2 , but neutral by Mutation Taster.	Rovelet-Lecrux et al., 2021
L1644Ter	Deletion	Deletion \|	Coding	Exon 35	Unknown.	Unknown.	Vardarajan et al., 2015
c.4949-458G>A	Substitution		Non-Coding	Intron 35	Unknown.	Unknown.	Webster et al., 2008
A1653S	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
P1654S	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted deleterious in silico.	Bellenguez et al., 2017; Andersen et al., 2023
P1654L	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Nicolas et al., 2016; Andersen et al., 2023
R1655Ter (R1655X)	Substitution	Substitution \| Nonsense	Coding	Exon 36	Unknown.	This single-nucleotide substitution introduces a premature stop codon.	Bellenguez et al., 2017
R1655Q	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted tolerated in silico.	Rovelet-Lecrux et al., 2021
L1657F	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
L1661F	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown.	Fernández et al., 2016; Andersen et al., 2023
V1668M	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted to be damaging by SIFT, benign by Mutation Taster, and probably damaging by PolyPhen-2.	Verheijen et al., 2016
I1669T	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
A1674T	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted tolerated in silico.	Rovelet-Lecrux et al., 2021
P1675S	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown.	Holstege et al., 2017
I1677L	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown.
H1678D	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown.
T1679I	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted to be deleterious by SIFT and PolyPhen-2 , but neutral by Mutation Taster.	Campion et al., 2019
H1680D	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
H1680H	Substitution	Substitution \| Silent	Coding	Exon 36	Unknown.	Unknown.	Holstege et al., 2017
G1681D	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted deleterious.	Pottier et al., 2012
R1684H	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown.	Holstege et al., 2022
I1687M	Substitution	Substitution \| Missense	Coding	Exon 36	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
c.5061+1G>T	Substitution		Non-Coding	Intron 36	Unknown.	Predicted splice-donor variant.
c.5062-79C>T	Substitution		Non-Coding	Intron 36			Wen et al., 2013
c.5062-16T>G	Substitution		Non-Coding	Intron 36			Holstege et al., 2017
M1697I (G>A)	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown; predicted tolerated in silico.	Verheijen et al., 2016
M1697I (G>C)	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown; predicted tolerated in silico.	Holstege et al., 2017
W1698C	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
Q1701R	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
R1702M	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown; predicted to be damaging by PolyPhen-2.	Gómez-Tortosa et al., 2018
I1710T	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
T1717A	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
V1721I	Substitution	Substitution \| Missense	Coding	Exon 37	Unknown.	Unknown.	Andersen et al., 2023
c.5167-318C>T	Substitution		Non-Coding	Intron 37			Webster et al., 2008
R1729G	Substitution	Substitution \| Missense	Coding	Exon 38	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
R1729H	Substitution	Substitution \| Missense	Coding	Exon 38	Unknown.	Unknown; predicted to be deleterious by SIFT, disease-causing by Mutation Taster, and probably damaging by PolyPhen-2.	Holstege et al., 2017
I1731M	Substitution	Substitution \| Missense	Coding	Exon 38	Unknown.	Unknown.	Holstege et al., 2022
G1732A	Substitution	Substitution \| Missense	Coding	Exon 38	Unknown. MRI of two carriers clinically diagnosed with AD showed hippocampal and cortical atrophy, and small hemorrhages in cortical regions.	Unknown; predicted deleterious.	Verheijen et al., 2016; Thonberg et al., 2017
c.5239+1G>A	Substitution		Non-Coding	Intron 38	Unknown.	Unknown.	Holstege et al., 2022
c.5239+73C>T (SNP 24)	Substitution		Non-Coding	Intron 38		Does not affect SORL1 protein levels in brains of AD cases or SORL1 expression in response to BDNF of IPSC-derived neurons.	Rogaeva et al., 2007
c.5240-378C>T	Substitution		Non-Coding	Intron 38			Seshadri et al., 2007
I1748Sfs	Deletion	Deletion \|	Coding	Exon 38-39	Unknown.	This single-nucleotide deletion results in a frameshift.	Verheijen et al., 2016
P1751T	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
I1753V	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
H1754N	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
I1755T	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown.	Andersen et al., 2023
I1755M	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
Y1758C	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown.	Holstege et al., 2022
F1765C	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
F1765F	Substitution	Substitution \| Silent	Coding	Exon 39	Unknown.	Unknown; predicted to be tolerated by SIFT, disease-causing by Mutation Taster, and neutral by PROVEAN.	El Bitar et al., 2019
T1768A	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
T1768I	Substitution	Substitution \| Missense	Coding	Exon 39	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
c.5323-507C>A	Substitution		Non-Coding	Intron 39			Webster et al., 2008
c.5323-44C>T (SNP 25)	Substitution		Non-Coding	Intron 39		Does not affect SORL1 protein levels in brains of AD cases or SORL1 expression in response to BDNF of IPSC-derived neurons.	Rogaeva et al., 2007
V1775L	Substitution	Substitution \| Missense	Coding	Exon 40	Unknown.	Unknown.	Holstege et al., 2022
L1796L	Substitution	Substitution \| Silent	Coding	Exon 40	Unknown.	Unknown.	Nicolas et al., 2018
R1799Ter (R1799X)	Substitution	Substitution \| Nonsense	Coding	Exon 40	Unknown.	Introduces a premature stop codon.	Schramm et al., 2022
R1799Q	Substitution	Substitution \| Missense	Coding	Exon 40	Unknown.	Unknown; predicted tolerated in silico.	Geut et al., 2019
H1805P	Substitution	Substitution \| Missense	Coding	Exon 40	Unknown.	Unknown.
c.5419+1G>A	Substitution		Non-Coding	Intron 40	Unknown.	Unknown.	Holstege et al., 2022
c.5419+6A>G	Substitution		Non-Coding	Intron 40			Holstege et al., 2017
c.5419+110G>A	Substitution		Non-Coding	Intron 40			Bralten et al., 2011
N1809S	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Verheijen et al., 2016; Gómez-Tortosa et al., 2018
H1813R	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted to tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster.	Verheijen et al., 2016
H1813Q	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted to be be benign by PolyPhen-2, tolerated by SIFT, and deleterious by Mutation Taster.	Verheijen et al., 2016
T1814I	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown.
Y1816C	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Impairs SORL1 maturation (glycosylation), dimerization, co-localization with retromer, and trafficking to the plasma membrane, resulting in endosomal swelling and decreased levels of soluble SORL1.	Verheijen et al., 2016; Jensen et al., 2023
Y1816Y	Substitution	Substitution \| Silent	Coding	Exon 41	Unknown.	Unknown.	Holstege et al., 2017
W1821Ter (W1821X)	Substitution	Substitution \| Nonsense	Coding	Exon 41	Unknown.	Unknown; predicted to be disease-causing by Mutation Taster.	Pottier et al., 2012
T1824A	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted to be deleterious by SIFT, but neutral/benign by Mutation Taster and PolyPhen-2.	Campion et al., 2019
D1828Ifs	Deletion	Deletion \|	Coding	Exon 41	Unknown.	This single-nucleotide deletion results in a frame shift.	Holstege et al., 2022
D1828V	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
P1830S	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown.	Holstege et al., 2022
H1835Q	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown.	Holstege et al., 2022
P1844S	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
P1846H	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
A1850T	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
A1852T	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown.	Holstege et al., 2022
I1853V	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
V1858A	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown.	Andersen et al., 2023
C1860Yfs	Deletion	Deletion \|	Coding	Exon 41	Unknown.	This two-nucleotide deletion results in a frame shift.	Holstege et al., 2022
C1860Ter	Substitution	Substitution \| Nonsense	Coding	Exon 41	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
W1862C	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Rovelet-Lecrux et al., 2021
R1866W	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted to be deleterious by SIFT and PolyPhen-2, but neutral by Mutation Taster.	Holstege et al., 2017
R1866Q	Substitution	Substitution \| Missense	Coding	Exon 41	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
c.5604+788C>A	Substitution		Non-Coding	Intron 41			Driscoll et al., 2019
c.5604+1843A>G	Substitution		Non-Coding	Intron 41			Liu et al., 2017
c.5605-67G>A (SNP 26)	Substitution		Non-Coding	Intron 41			Rogaeva et al., 2007
c.5605-3C>T	Substitution		Non-Coding	Intron 41			Nicolas et al., 2018
G1871V	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown.	Gómez-Tortosa et al., 2018
F1873Y	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Fernández et al., 2016
T1876M	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
R1883C	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown.
P1885S	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Verheijen et al., 2016
P1885L	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
K1886R	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown.
T1889I	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown.
L1892H	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
K1895K	Substitution	Substitution \| Silent	Coding	Exon 42	Unknown.	Unknown; predicted to be tolerated by SIFT and neutral by PROVEAN, and it was classified as a polymorphism by Mutation Taster.	Verheijen et al., 2016
T1896M	Substitution	Substitution \| Missense	Coding	Exon 42	Unknown.	Unknown.
c.5724+2T>C	Substitution		Non-Coding	Intron 42	Unknown.	Predicted splice-donor variant.
c.5724+16C>T	Substitution		Non-Coding	Intron 42			Holstege et al., 2017
c.5724+203G>A	Substitution		Non-Coding	Intron 42			Liu et al., 2017
V1909I	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.	Holstege et al., 2022; Andersen et al., 2023
R1910H	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.	Verheijen et al., 2016; Andersen et al., 2023
P1914S	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Impaired maturation (glycosylation) and trafficking to the plasma membrane of SORL1 overexpressed in HEK293 cells.	Bellenguez et al., 2017
Y1915C	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
Y1922S	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown; predicted to be tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster.	Fernández et al., 2016
K1926N	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.
R1936H	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
H1942R	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.	Holstege et al., 2022
T1943P	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.	Holstege et al., 2022
T1943K	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.	Holstege et al., 2022
T1943R	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.	Holstege et al., 2022
T1943M	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown.	Holstege et al., 2022
G1944Efs	Deletion	Deletion \|	Coding	Exon 43	Unknown.	This two-nucleotide deletion results in a frameshift and is predicted to be protein-truncating.	Bellenguez et al., 2017
K1945N	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
P1955L	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown; predicted deleterious.	Verheijen et al., 2016; Andersen et al., 2023
S1958C	Substitution	Substitution \| Missense	Coding	Exon 43	Unknown.	Unknown; predicted to be damaging by SIFT, disease-causing by Mutation Taster, and possibly damaging by PolyPhen-2.	Verheijen et al., 2016
c.5890-515C>T	Substitution		Non-Coding	Intron 43			Liu et al., 2017
c.5890-15C>CT	Insertion		Non-Coding	Intron 43			Holstege et al., 2017
V1967I (I1967V)	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown; predicted tolerated.	Vardarajan et al., 2015; Andersen et al., 2023
D1971Y	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.	Holstege et al., 2022
K1975Lfs	Deletion	Deletion \|	Coding	Exon 44	Unknown.	This five-nucleotide deletion results in a frame shift and introduces a premature stop codon.	Campion et al., 2019
S1979N	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown; predicted to be benign by PolyPhen-2.	Fernández et al., 2016
S1979Ifs	Deletion	Deletion \|	Coding	Exon 44	Unknown.	This two-nucleotide deletion results in a frame shift.	Holstege et al., 2022
R1985C	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Rovelet-Lecrux et al., 2021
N1986Ter	Insertion	Insertion \| Nonsense	Coding	Exon 44	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
V1989A	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.
L1993F	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019; Andersen et al., 2023
E1997D	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
G2000R	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Holstege et al., 2017
I2004L	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.	Campion et al., 2019; Andersen et al., 2023
Q2007Q	Substitution	Substitution \| Nonsense	Coding	Exon 44	Unknown.	Unknown.	Holstege et al., 2017
G2009E	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.
M2011V	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.
S2012T	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.
D2014N	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Verheijen et al., 2016
S2016G	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.
I2017R	Substitution	Substitution \| Missense	Coding	Exon 44	Unknown.	Unknown.
V2022A	Substitution	Substitution \| Missense	Coding	Exon 44/45	Unknown.	Unknown.
S2023L	Substitution	Substitution \| Missense	Coding	Exon 45	Unknown.	Unknown.
A2029T	Substitution	Substitution \| Missense	Coding	Exon 45	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
I2033V	Substitution	Substitution \| Missense	Coding	Exon 45	Unknown.	Unknown.	Holstege et al., 2022
H2038D	Substitution	Substitution \| Missense	Coding	Exon 45	Unknown, but one carrier reported to be amyloid-PET positive.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Verheijen et al., 2016
K2044R	Substitution	Substitution \| Missense	Coding	Exon 45	Unknown.	Unknown.	Csaban et al., 2022
E2055Ter (E2055X)	Substitution	Substitution \| Nonsense	Coding	Exon 45	Unknown.	This single-nucleotide substitution introduces a premature stop codon.	Nicolas et al., 2016
c.6171+24T>G (SNP 27)	Substitution		Non-Coding	Intron 45			Rogaeva et al., 2007
c.6171+1050C>T	Substitution		Non-Coding	Intron 45			Webster et al., 2008
c.6171+1112C>T	Substitution		Non-Coding	Intron 45			Webster et al., 2008
c.6172-239G>A	Substitution		Non-Coding	Intron 45			Bralten et al., 2011
c.6172-3C>T	Substitution		Non-Coding	Intron 45			Holstege et al., 2017
Y2059C	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Predicted deleterious.	Holstege et al., 2022; Andersen et al., 2023
D2065V	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Predicted damaging in silico.	Vardarajan et al., 2015
D2065E	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
M2068V	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
M2068I	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.
T2071A	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.	Holstege et al., 2022
A2072V	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be deleterious by SIFT and Mutation Taster, but benign by PolyPhen-2.	Campion et al., 2019
Y2073Ter	Substitution	Substitution \| Nonsense	Coding	Exon 46	Unknown.	Introduces a premature stop codon.	Holstege et al., 2022
G2075A	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Rovelet-Lecrux et al., 2021
T2078I	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.	Holstege et al., 2022
D2079N	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Holstege et al., 2017
K2083R	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster.	Vardarajan et al., 2015
N2086T	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.	Holstege et al., 2022
N2086I	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.	Holstege et al., 2022
G2090C	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
G2090V	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Verheijen et al., 2016
H2091R	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.
Y2093Ter	Substitution	Substitution \| Nonsense	Coding	Exon 46	Unknown.	Introduces a premature stop codon.	Schramm et al., 2022
T2094M	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.
T2096I	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.
V2097I	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown.	Verheijen et al., 2016
A2099G	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted deleterious.	Fernández et al., 2016; Andersen et al., 2023
Q2106Q	Substitution	Substitution \| Nonsense	Coding	Exon 46	Unknown.	Unknown; predicted to be tolerated by SIFT, neutral by PROVEAN, and disease-causing by Mutation Taster.	Holstege et al., 2017
D2117N	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be deleterious by Mutation Taster, but tolerated/benign by SIFT and PolyPhen-2.	Campion et al., 2019
L2119P	Substitution	Substitution \| Missense	Coding	Exon 46	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
c.6365-380T>C	Substitution		Non-Coding	Intron 46			Webster et al., 2008
Q2129R	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted tolerated in silico.	Campion et al., 2019
A2131T	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted tolerated in silico.	El Bitar et al., 2019
T2134M	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Appears to reduce trafficking of SORL1 to the cell surface and to disrupt its binding to APP.	Cuccaro et al., 2016
F2145L	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.
I2147M	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted to be damaging by SIFT, but benign by Mutation Taster and PolyPhen-2.	Verheijen et al., 2016
I2157V	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.	Holstege et al., 2022
L2158L	Substitution	Substitution \| Nonsense	Coding	Exon 47	Unknown.	Unknown.	Holstege et al., 2017
T2160R	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.	Holstege et al., 2022
T2160M	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted to be tolerated by SIFT and benign by PolyPhen-2, but deleterious by Mutation Taster.	Holstege et al., 2017
R2163W	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.	Holstege et al., 2022
R2163Q	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted to be probably damaging by PolyPhen-2.	Fernández et al., 2016
R2164Gfs	Deletion	Deletion \|	Coding	Exon 47	Unknown.	This single-nucleotide deletion results in a frameshift leading to a premature stop codon.	Vardarajan et al., 2015
A2171T	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
A2173T	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.	Gómez-Tortosa et al., 2018
N2174S	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted deleterious in silico.	Verheijen et al., 2016
S2175R (C>A)	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
S2175R (C>G)	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Sassi et al., 2016
H2176R	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown; predicted to be deleterious by SIFT, Mutation Taster, and PolyPhen-2.	Bellenguez et al., 2017
L2181P	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.	Holstege et al., 2022
A2184T	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.	Holstege et al., 2022
I2185V	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.
D2190N	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.	Holstege et al., 2022
D2191N	Substitution	Substitution \| Missense	Coding	Exon 47	Unknown.	Unknown.
E2194K	Substitution	Substitution \| Missense	Coding	Exon 48	Unknown.	Unknown; predicted to be tolerated by SIFT, but deleterious by Mutation Taster and PolyPhen-2.	Campion et al., 2019
D2207G	Substitution	Substitution \| Missense	Coding	Exon 48	Unknown.	Unknown; predicted deleterious in silico.	Campion et al., 2019
M2211Hfs	Insertion	Insertion \|	Coding	Exon 48	Unknown.	This single-nucleotide insertion introduces a frame shift.	Holstege et al., 2022
c.*267T>C	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*966G>A	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*1020A>G	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*1134T>C	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*1483G>A (SNP 28)	Substitution		Non-Coding	3′UTR			Rogaeva et al., 2007
c.*2473C>G (SNP 29)	Substitution		Non-Coding	3′UTR			Rogaeva et al., 2007
c.*2496A>G	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*2622T>C	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*3216C>G	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*3556A>G	Substitution		Non-Coding	3' UTR			Zhang et al., 2015
c.*3909A>C	Substitution		Non-Coding	3' UTR			Zhang et al., 2015