### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SORL1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "SORL1" "sortilin-related receptor, L(DLR class) A repeats containing" "11" "q23.2-q24.4" "unknown" "NG_023313.1" "UD_132118688163" "" "https://www.LOVD.nl/SORL1" "" "1" "11185" "6653" "602005" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SORL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-12 21:24:12" "00006" "2025-01-30 14:26:12" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020026" "SORL1" "sortilin-related receptor, L(DLR class) A repeats containing" "001" "NM_003105.5" "" "NP_003096.1" "" "" "" "-129" "10844" "6645" "121322912" "121504471" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00204" "AD" "Alzheimer disease (AD)" "AD" "104300" "" "" "" "00006" "2013-09-24 20:52:38" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SORL1" "00204" ## Individuals ## Do not remove or alter this header ## ## Count = 309 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00103259" "" "" "" "1" "" "00006" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "" "France" "" "0" "" "" "" "22472873-PatALZ426" "00103260" "" "" "" 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"{{individualid}}" "{{diseaseid}}" "00103259" "00204" "00103260" "00204" "00103261" "00204" "00103262" "00204" "00103263" "00204" "00103264" "00204" "00103265" "00204" "00103328" "00204" "00103329" "00204" "00103330" "00204" "00103331" "00204" "00103332" "00204" "00103333" "00204" "00103334" "00204" "00103335" "00204" "00103336" "00204" "00103337" "00204" "00103338" "00204" "00103339" "00204" "00103340" "00204" "00103341" "00204" "00103342" "00204" "00103343" "00204" "00103344" "00204" "00103345" "00204" "00103346" "00204" "00103347" "00204" "00103348" "00204" "00103349" "00204" "00103350" "00204" "00103351" "00204" "00103352" "00204" "00103353" "00204" "00103354" "00204" "00103355" "00204" "00103356" "00204" "00103357" "00204" "00103358" "00204" "00103359" "00204" "00103360" "00204" "00103361" "00204" "00103362" "00204" "00103363" "00204" "00103364" "00204" "00103365" "00204" "00103366" "00204" "00103367" "00204" "00103368" "00204" "00103369" "00204" "00103370" "00204" "00103371" "00204" "00103372" "00204" "00103373" "00204" "00103374" "00204" "00103375" "00204" "00103376" "00204" "00103377" "00204" "00103378" "00204" "00103379" "00204" "00103380" "00204" "00103381" "00204" "00103382" "00204" "00103383" "00204" "00103384" "00204" "00103385" "00204" "00103386" "00204" "00103387" "00204" "00103388" "00204" "00103389" "00204" "00103390" "00204" "00103391" "00204" "00103392" "00204" "00103393" "00204" "00103394" "00204" "00103395" "00204" "00103396" "00204" "00103397" "00204" "00103398" "00204" "00103399" "00204" "00103400" "00204" "00103401" "00204" "00103472" "00204" "00103473" "00204" "00103474" "00204" "00103475" "00204" "00103476" "00204" "00103477" "00204" "00103478" "00204" "00103479" "00204" "00103480" "00204" "00103481" "00204" "00103482" "00204" "00103483" "00204" "00103484" "00204" "00103485" "00204" "00103486" "00204" "00103487" "00204" "00103488" "00204" "00103489" "00204" "00103490" "00204" "00103491" "00204" "00103492" "00204" "00103493" "00204" "00103494" "00204" "00103495" "00204" "00103496" "00204" "00103497" "00204" "00103498" "00204" "00103499" "00204" "00103500" "00204" "00103501" "00204" "00103502" "00204" "00103503" "00204" "00103504" "00204" "00103505" "00204" "00103506" "00204" "00103507" "00204" "00103508" "00204" "00103509" "00204" "00103510" "00204" "00103511" "00204" "00103512" "00204" "00103513" "00204" "00103514" "00204" "00103515" "00204" "00103516" "00204" "00103517" "00204" "00103518" "00204" "00103519" "00204" "00103520" "00204" "00103521" "00204" "00103522" "00204" "00103523" "00204" "00103524" "00204" "00103525" "00204" "00103526" "00204" "00103527" "00204" "00103528" "00204" "00103529" "00204" "00103530" "00204" "00103531" "00204" "00103532" "00204" "00103533" "00204" "00103534" "00204" "00103535" "00204" "00103536" "00204" "00103537" "00204" "00103538" "00204" "00103539" "00204" "00103540" "00204" "00103541" "00204" "00103542" "00204" "00103543" "00204" "00461025" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00204 ## Count = 153 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081339" "00204" "00103259" "00006" "Familial, autosomal dominant" "" "autosomal dominant early-onset Alzheimer disease (ADEOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081340" "00204" "00103260" "00006" "Familial, autosomal dominant" "" "autosomal dominant early-onset Alzheimer disease (ADEOAD), familial" "" "" "" "" "" "" "" "" "" "" "" "0000081341" "00204" "00103261" "00006" "Familial, autosomal dominant" "" "autosomal dominant early-onset Alzheimer disease (ADEOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081342" "00204" "00103262" "00006" "Familial, autosomal dominant" "" "autosomal dominant early-onset Alzheimer disease (ADEOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081343" "00204" "00103263" "00006" "Familial, autosomal dominant" "" "autosomal dominant early-onset Alzheimer disease (ADEOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081344" "00204" "00103264" "00006" "Familial, autosomal dominant" "" "autosomal dominant early-onset Alzheimer disease (ADEOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081345" "00204" "00103265" "00006" "Familial, autosomal dominant" "" "autosomal dominant early-onset Alzheimer disease (ADEOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081408" "00204" "00103328" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081409" "00204" "00103329" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081410" "00204" "00103330" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081411" "00204" "00103331" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081412" "00204" "00103332" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081413" "00204" "00103333" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081414" "00204" "00103334" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081415" "00204" "00103335" "00006" "Isolated (sporadic)" "65y" "early onset (EOAD), disease durations >2y" "" "" "" "" "" "" "" "" "" "" "" "0000081416" "00204" "00103336" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081417" "00204" "00103337" "00006" "Unknown" "55y" "earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081418" "00204" "00103338" "00006" "Familial, autosomal dominant" "64y" "autosomal dominant earlyonset (EOAD), disease duration 16y" "48y" "" "" "" "" "" "" "" "" "" "" "0000081419" "00204" "00103339" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081420" "00204" "00103340" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081421" "00204" "00103341" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081422" "00204" "00103342" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081423" "00204" "00103343" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081424" "00204" "00103344" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081425" "00204" "00103345" "00006" "Isolated (sporadic)" "53y" "earlyonset (EOAD), disease duaration >3y" "<50y" "" "" "" "" "" "" "" "" "" "" "0000081426" "00204" "00103346" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081427" "00204" "00103347" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081428" "00204" "00103348" "00006" "Familial, autosomal dominant" "50y" "early onset (EOAD), disease duration >1y" "<49y" "" "" "" "" "" "" "" "" "" "" "0000081429" "00204" "00103349" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081430" "00204" "00103350" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081431" "00204" "00103351" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081432" "00204" "00103352" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081433" "00204" "00103353" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081434" "00204" "00103354" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081435" "00204" "00103355" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081436" "00204" "00103356" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081437" "00204" "00103357" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081438" "00204" "00103358" "00006" "Familial, autosomal dominant" "58y" "early onset (EOAD), disease duration >5y" "<53y" "" "" "" "" "" "" "" "" "" "" "0000081439" "00204" "00103359" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081440" "00204" "00103360" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081441" "00204" "00103361" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081442" "00204" "00103362" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081443" "00204" "00103363" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081444" "00204" "00103364" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081445" "00204" "00103365" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081446" "00204" "00103366" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081447" "00204" "00103367" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081448" "00204" "00103368" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081449" "00204" "00103369" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081450" "00204" "00103370" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081451" "00204" "00103371" "00006" "Familial, autosomal dominant" "60y" "early onset (EOAD), disease duration 6y" "54y" "" "" "" "" "" "" "" "" "" "" "0000081452" "00204" "00103372" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081453" "00204" "00103373" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081454" "00204" "00103374" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081455" "00204" "00103375" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081456" "00204" "00103376" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081457" "00204" "00103377" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081458" "00204" "00103378" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081459" "00204" "00103379" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081460" "00204" "00103380" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081461" "00204" "00103381" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081462" "00204" "00103382" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081463" "00204" "00103383" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081464" "00204" "00103384" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081465" "00204" "00103385" "00006" "Familial, autosomal dominant" "64y" "early onset (EOAD), disease duration >6y" "<58y" "" "" "" "" "" "" "" "" "" "" "0000081466" "00204" "00103386" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081467" "00204" "00103387" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081468" "00204" "00103388" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081469" "00204" "00103389" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081470" "00204" "00103390" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081471" "00204" "00103391" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081472" "00204" "00103392" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081473" "00204" "00103393" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081474" "00204" "00103394" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081475" "00204" "00103395" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081476" "00204" "00103396" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081477" "00204" "00103397" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081478" "00204" "00103398" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081479" "00204" "00103399" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081480" "00204" "00103400" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081481" "00204" "00103401" "00006" "Familial, autosomal dominant" "" "autosomal dominant earlyonset (EOAD)" "" "" "" "" "" "" "" "" "" "" "" "0000081484" "00204" "00103472" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081485" "00204" "00103473" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081486" "00204" "00103474" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081487" "00204" "00103475" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081488" "00204" 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"Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081500" "00204" "00103488" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081501" "00204" "00103489" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081502" "00204" "00103490" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081503" "00204" "00103491" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081504" "00204" "00103492" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081505" "00204" "00103493" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081506" "00204" "00103494" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081507" "00204" "00103495" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081508" "00204" "00103496" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081509" "00204" "00103497" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081510" "00204" "00103498" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081511" "00204" "00103499" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081512" "00204" "00103500" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081513" "00204" "00103501" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081514" "00204" "00103502" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081515" "00204" "00103503" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081516" "00204" "00103504" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081517" "00204" "00103505" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081518" "00204" "00103506" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081519" "00204" "00103507" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081520" "00204" "00103508" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081521" "00204" "00103509" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081522" "00204" "00103510" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081523" "00204" "00103511" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081524" "00204" "00103512" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081525" "00204" "00103513" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081526" "00204" "00103514" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081527" "00204" "00103515" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081528" "00204" "00103516" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081529" "00204" "00103517" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081530" "00204" "00103518" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081531" "00204" "00103519" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081532" "00204" "00103520" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081533" 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"01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081545" "00204" "00103533" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081546" "00204" "00103534" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081547" "00204" "00103535" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081548" "00204" "00103536" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081549" "00204" "00103537" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081550" "00204" "00103538" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081551" "00204" "00103539" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081552" "00204" "00103540" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081553" "00204" "00103541" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081554" "00204" "00103542" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081555" "00204" "00103543" "01957" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 309 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000103714" "00103259" "1" "00006" "00006" "2017-04-13 16:42:13" "" "" "SEQ" "DNA" "" "" "0000103715" "00103260" "1" "00006" "00006" "2017-04-13 16:42:13" "" "" "SEQ" "DNA" "" "" "0000103716" "00103261" "1" "00006" "00006" "2017-04-13 16:42:13" "" "" "SEQ" "DNA" "" "" "0000103717" "00103262" "1" "00006" "00006" "2017-04-13 16:42:13" "" "" "SEQ" "DNA" "" "" "0000103718" "00103263" "1" "00006" "00006" "2017-04-13 16:42:13" "" "" "SEQ" "DNA" "" "" "0000103719" "00103264" "1" "00006" "00006" "2017-04-13 16:42:13" "" "" "SEQ" "DNA" "" "" "0000103720" "00103265" "1" "00006" "00006" "2017-04-13 16:42:13" "" "" "SEQ" "DNA" "" "" "0000103784" "00103328" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103785" "00103329" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103786" "00103330" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103787" "00103331" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103788" "00103332" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103789" "00103333" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103790" "00103334" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103791" "00103335" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103792" "00103336" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103793" "00103337" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103794" "00103338" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" 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"" "SEQ-NG" "DNA" "" "" "0000103806" "00103350" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103807" "00103351" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103808" "00103352" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103809" "00103353" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103810" "00103354" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103811" "00103355" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103812" "00103356" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103813" "00103357" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103814" "00103358" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103815" "00103359" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103816" "00103360" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103817" "00103361" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103818" "00103362" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103819" "00103363" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103820" "00103364" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103821" "00103365" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103822" "00103366" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103823" "00103367" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103824" "00103368" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103825" "00103369" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103826" "00103370" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103827" "00103371" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103828" "00103372" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103829" "00103373" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103830" "00103374" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103831" "00103375" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103832" "00103376" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103833" "00103377" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103834" "00103378" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103835" "00103379" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103836" "00103380" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" "DNA" "" "" "0000103837" "00103381" "1" "00006" "01957" "2017-04-11 15:22:08" "" "" "SEQ-NG" 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"0000103970" "SORL1" "0000103971" "SORL1" "0000103972" "SORL1" "0000103973" "SORL1" "0000103974" "SORL1" "0000103975" "SORL1" "0000103976" "SORL1" "0000103977" "APOE" "0000103977" "SORL1" "0000103978" "SORL1" "0000103979" "SORL1" "0000103980" "APOE" "0000103980" "SORL1" "0000103981" "SORL1" "0000103982" "APOE" "0000103982" "SORL1" "0000103983" "APOE" "0000103983" "SORL1" "0000103984" "APOE" "0000103984" "SORL1" "0000103985" "SORL1" "0000103986" "SORL1" "0000103987" "APOE" "0000103987" "SORL1" "0000103988" "SORL1" "0000103989" "APOE" "0000103989" "SORL1" "0000103990" "SORL1" "0000103991" "APOE" "0000103991" "SORL1" "0000103992" "SORL1" "0000103993" "SORL1" "0000103994" "SORL1" "0000103995" "APOE" "0000103995" "SORL1" "0000103996" "SORL1" "0000103997" "SORL1" "0000103998" "SORL1" "0000103999" "APOE" "0000103999" "SORL1" "0000104000" "APOE" "0000104000" "SORL1" "0000104001" "SORL1" "0000104002" "APOE" "0000104002" "SORL1" "0000104003" "SORL1" "0000104004" "SORL1" "0000104005" "SORL1" "0000104006" "SORL1" "0000104007" "SORL1" "0000104008" "APOE" "0000104008" "SORL1" "0000104009" "SORL1" "0000104010" "SORL1" "0000104011" "APOE" "0000104011" "SORL1" "0000104012" "SORL1" "0000104013" "SORL1" "0000104014" "SORL1" "0000104015" "SORL1" "0000104016" "APOE" "0000104016" "SORL1" "0000104017" "SORL1" "0000104018" "SORL1" "0000104019" "APOE" "0000104019" "SORL1" "0000104020" "SORL1" "0000104021" "SORL1" "0000104022" "SORL1" "0000104023" "SORL1" "0000104024" "APOE" "0000104024" "SORL1" "0000104025" "APOE" "0000104025" "SORL1" "0000104026" "APOE" "0000104026" "SORL1" "0000104027" "SORL1" "0000104028" "SORL1" "0000104029" "SORL1" "0000104030" "SORL1" "0000104031" "APOE" "0000104031" "SORL1" "0000104032" "SORL1" "0000104033" "APOE" "0000104033" "SORL1" "0000104034" "SORL1" "0000104035" "SORL1" "0000104036" "SORL1" "0000104037" "APOE" "0000104037" "SORL1" "0000104038" "SORL1" "0000104039" "SORL1" "0000104040" "SORL1" "0000104041" "SORL1" "0000104042" "SORL1" "0000104043" "SORL1" "0000104044" "APOE" "0000104044" "SORL1" "0000104045" "SORL1" "0000104046" "SORL1" "0000104047" "SORL1" "0000104048" "SORL1" "0000104049" "SORL1" "0000104050" "SORL1" "0000104051" "SORL1" "0000104052" "APOE" "0000104052" "SORL1" "0000104053" "APOE" "0000104053" "SORL1" "0000104054" "APOE" "0000104054" "SORL1" "0000104055" "APOE" "0000104055" "SORL1" "0000104056" "SORL1" "0000104057" "SORL1" "0000104058" "SORL1" "0000104059" "APOE" "0000104059" "SORL1" "0000104060" "APOE" "0000104060" "SORL1" "0000104061" "APOE" "0000104061" "SORL1" "0000104062" "SORL1" "0000104063" "APOE" "0000104063" "SORL1" "0000104064" "SORL1" "0000104065" "SORL1" "0000104066" "SORL1" "0000104067" "APOE" "0000104067" "SORL1" "0000104068" "APOE" "0000104068" "SORL1" "0000104069" "APOE" "0000104069" "SORL1" "0000104070" "APOE" "0000104070" "SORL1" "0000104071" "APOE" "0000104071" "SORL1" "0000104072" "APOE" "0000104072" "SORL1" "0000104073" "SORL1" "0000104074" "SORL1" "0000104075" "APOE" "0000104075" "SORL1" "0000104076" "SORL1" "0000104077" "SORL1" "0000104078" "SORL1" "0000104079" "SORL1" "0000104080" "APOE" "0000104080" "SORL1" "0000104081" "SORL1" "0000104082" "APOE" "0000104082" "SORL1" "0000104083" "APOE" "0000104083" "SORL1" "0000104084" "SORL1" "0000104085" "SORL1" "0000104086" "APOE" "0000104086" "SORL1" "0000462657" "SORL1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 475 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000167208" "1" "90" "11" "121348846" "121348846" "subst" "0" "00006" "SORL1_000001" "g.121348846A>G" "" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "not in 1500 controls" "Germline" "" "" "0" "" "" "g.121478137A>G" "" "pathogenic" "" "0000167209" "0" "90" "11" "121393633" "121393633" "subst" "0" "00006" "SORL1_000002" "g.121393633G>C" "" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "not in 1500 controls" "Germline" "yes" "" "0" "" "" "g.121522924G>C" "" "pathogenic" "" "0000167210" "11" "70" "11" "121429407" "121429407" "subst" "4.06124E-5" "00006" "SORL1_000003" "g.121429407A>G" "" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "not in 1500 controls" "Germline" "" "" "0" "" "" "g.121558698A>G" "" "likely pathogenic" "" "0000167211" "21" "70" "11" "121460094" "121460094" "subst" "6.90316E-5" "00006" "SORL1_000004" "g.121460094A>G" "" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "not in 1500 controls" "Germline" "" "" "0" "" "" "g.121589385A>G" "" "likely pathogenic" "" "0000167212" "0" "70" "11" "121466396" "121466396" "subst" "0" "00006" "SORL1_000005" "g.121466396C>A" "" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "not in 1500 controls" "Germline" "" "" "0" "" "" "g.121595687C>A" "" "likely pathogenic" "" "0000167213" "11" "90" "11" "121477647" "121477647" "subst" "0" "00006" "SORL1_000006" "g.121477647G>A" "" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "" "Germline" "" "" "0" "" "" "g.121606938G>A" "" "pathogenic" "" "0000167214" "21" "70" "11" "121485623" "121485623" "subst" "0" "00006" "SORL1_000007" "g.121485623G>A" "" "{PMID:Pottier 2012:22472873}, {DOI:Pottier 2012:10.1038/mp.2012.15}" "" "" "" "Germline" "" "" "0" "" "" "g.121614914G>A" "" "likely pathogenic" "" "0000168328" "1" "10" "11" "121437819" "121437819" "subst" "0.996113" "00006" "SORL1_000081" "g.121437819C>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.121567110C>G" "" "benign" "" "0000168329" "1" "10" "11" "121437819" "121437819" "subst" "0.996113" "00006" "SORL1_000081" "g.121437819C>G" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.121567110C>G" "" "benign" "" "0000168330" "1" "10" "11" "121491782" "121491782" "subst" "0.996169" "00006" "SORL1_000179" "g.121491782G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.121621073G>A" "" "benign" "" "0000168331" "0" "10" "11" "121367626" "121367626" "subst" "0.489331" "00006" "SORL1_000016" "g.121367626T>C" "1280/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs12364988" "0" "" "" "g.121496917T>C" "" "benign" "" "0000168332" "0" "10" "11" "121425955" "121425955" "subst" "0.0557393" "00006" "SORL1_000067" "g.121425955A>T" "176/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class B 1" "Germline" "" "rs78274293" "0" "" "" "g.121555246A>T" "" "benign" "" "0000168333" "0" "10" "11" "121367626" "121367626" "subst" "0.489331" "00006" "SORL1_000016" "g.121367626T>C" "1822/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs12364988" "0" "" "" "g.121496917T>C" "" "benign" "" "0000168334" "1" "10" "11" "121485599" "121485599" "subst" "0.00508206" "00006" "SORL1_000167" "g.121485599T>A" "22/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 3" "Germline" "" "rs62622819" "0" "" "" "g.121614890T>A" "" "benign" "" "0000168335" "1" "10" "11" "121485599" "121485599" "subst" "0.00508206" "00006" "SORL1_000167" "g.121485599T>A" "24/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 3" "Germline" "" "rs62622819" "0" "" "" "g.121614890T>A" "" "benign" "" "0000168336" "0" "10" "11" "121444958" "121444958" "subst" "0.00523233" "00006" "SORL1_000091" "g.121444958A>G" "25/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 2" "Germline" "" "rs62617129" "0" "" "" "g.121574249A>G" "" "benign" "" "0000168337" "1" "10" "11" "121461799" "121461799" "subst" "0.000458947" "00006" "SORL1_000127" "g.121461799A>T" "3/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121591090A>T" "" "benign" "" "0000168338" "0" "10" "11" "121425955" "121425955" "subst" "0.0557393" "00006" "SORL1_000067" "g.121425955A>T" "310/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class B 1" "Germline" "" "rs78274293" "0" "" "" "g.121555246A>T" "" "benign" "" "0000168339" "0" "10" "11" "121444958" "121444958" "subst" "0.00523233" "00006" "SORL1_000091" "g.121444958A>G" "39/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 2" "Germline" "" "rs62617129" "0" "" "" "g.121574249A>G" "" "benign" "" "0000168340" "1" "10" "11" "121461799" "121461799" "subst" "0.000458947" "00006" "SORL1_000127" "g.121461799A>T" "4/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121591090A>T" "" "benign" "" "0000168341" "0" "10" "11" "121448090" "121448090" "subst" "0.320775" "00006" "SORL1_000098" "g.121448090T>G" "577/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "rs2070045" "0" "" "" "g.121577381T>G" "" "benign" "" "0000168342" "0" "10" "11" "121448090" "121448090" "subst" "0.320775" "00006" "SORL1_000098" "g.121448090T>G" "853/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "rs2070045" "0" "" "" "g.121577381T>G" "" "benign" "" "0000168343" "1" "30" "11" "121403254" "121403254" "subst" "0.000166709" "00006" "SORL1_000041" "g.121403254G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs150303243" "0" "" "" "g.121532545G>A" "" "likely benign" "" "0000168344" "1" "30" "11" "121428101" "121428101" "subst" "3.25092E-5" "00006" "SORL1_000071" "g.121428101G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121557392G>A" "" "likely benign" "" "0000168345" "1" "30" "11" "121440979" "121440979" "subst" "2.44079E-5" "00006" "SORL1_000089" "g.121440979C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121570270C>T" "" "likely benign" "" "0000168346" "1" "30" "11" "121476112" "121476112" "subst" "2.45403E-5" "00006" "SORL1_000152" "g.121476112G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121605403G>A" "" "likely benign" "" "0000168347" "1" "30" "11" "121478841" "121478841" "subst" "2.43665E-5" "00006" "SORL1_000162" "g.121478841G>C" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121608132G>C" "" "likely benign" "" "0000168348" "1" "30" "11" "121485598" "121485598" "subst" "2.85607E-5" "00006" "SORL1_000166" "g.121485598A>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121614889A>G" "" "likely benign" "" "0000168349" "1" "30" "11" "121492918" "121492918" "subst" "4.88822E-5" "00006" "SORL1_000183" "g.121492918C>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121622209C>G" "" "likely benign" "" "0000168350" "1" "30" "11" "121495870" "121495870" "subst" "0.00281118" "00006" "SORL1_000187" "g.121495870A>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 6" "Germline" "" "rs74811057" "0" "" "" "g.121625161A>G" "" "likely benign" "" "0000168351" "1" "30" "11" "121498340" "121498340" "subst" "3.65559E-5" "00006" "SORL1_000192" "g.121498340A>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121627631A>G" "" "likely benign" "" "0000168352" "1" "30" "11" "121358826" "121358826" "subst" "2.84285E-5" "00006" "SORL1_000015" "g.121358826G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121488117G>A" "" "likely benign" "" "0000168353" "1" "30" "11" "121383742" "121383742" "subst" "2.03065E-5" "00006" "SORL1_000021" "g.121383742G>C" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs541387363" "0" "" "" "g.121513033G>C" "" "likely benign" "" "0000168354" "1" "30" "11" "121414300" "121414300" "subst" "3.25177E-5" "00006" "SORL1_000043" "g.121414300T>C" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121543591T>C" "" "likely benign" "" "0000168355" "1" "30" "11" "121416003" "121416003" "subst" "4.87405E-5" "00006" "SORL1_000047" "g.121416003G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121545294G>A" "" "likely benign" "" "0000168356" "1" "30" "11" "121428059" "121428059" "subst" "2.03098E-5" "00006" "SORL1_000070" "g.121428059G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121557350G>A" "" "likely benign" "" "0000168357" "1" "30" "11" "121428104" "121428104" "subst" "8.12698E-6" "00006" "SORL1_000072" "g.121428104C>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121557395C>A" "" "likely benign" "" "0000168358" "1" "30" "11" "121440893" "121440893" "subst" "3.25195E-5" "00006" "SORL1_000084" "g.121440893G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121570184G>A" "" "likely benign" "" "0000168359" "1" "30" "11" "121440979" "121440979" "subst" "2.44079E-5" "00006" "SORL1_000089" "g.121440979C>T" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121570270C>T" "" "likely benign" "" "0000168360" "1" "30" "11" "121458785" "121458785" "subst" "4.06355E-5" "00006" "SORL1_000113" "g.121458785T>C" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121588076T>C" "" "likely benign" "" "0000168361" "1" "30" "11" "121459985" "121459985" "subst" "2.03039E-5" "00006" "SORL1_000118" "g.121459985C>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121589276C>A" "" "likely benign" "" "0000168362" "1" "30" "11" "121466371" "121466371" "subst" "3.72692E-5" "00006" "SORL1_000135" "g.121466371G>T" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121595662G>T" "" "likely benign" "" "0000168363" "1" "30" "11" "121466404" "121466404" "subst" "3.25887E-5" "00006" "SORL1_000136" "g.121466404C>T" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121595695C>T" "" "likely benign" "" "0000168364" "1" "30" "11" "121477607" "121477607" "subst" "2.03036E-5" "00006" "SORL1_000155" "g.121477607G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121606898G>A" "" "likely benign" "" "0000168365" "1" "30" "11" "121477924" "121477924" "subst" "1.21838E-5" "00006" "SORL1_000159" "g.121477924G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121607215G>A" "" "likely benign" "" "0000168366" "1" "30" "11" "121485598" "121485598" "subst" "2.85607E-5" "00006" "SORL1_000166" "g.121485598A>G" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121614889A>G" "" "likely benign" "" "0000168367" "1" "30" "11" "121490466" "121490466" "subst" "3.25709E-5" "00006" "SORL1_000175" "g.121490466G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121619757G>A" "" "likely benign" "" "0000168368" "0" "30" "11" "121495870" "121495870" "subst" "0.00281118" "00006" "SORL1_000187" "g.121495870A>G" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 6" "Germline" "" "rs74811057" "0" "" "" "g.121625161A>G" "" "likely benign" "" "0000168369" "1" "30" "11" "121495816" "121495816" "subst" "0.0025844" "00006" "SORL1_000185" "g.121495816A>T" "11/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 6" "Germline" "" "rs140327834" "0" "" "" "g.121625107A>T" "" "likely benign" "" "0000168370" "0" "30" "11" "121440937" "121440937" "subst" "0.00803791" "00006" "SORL1_000086" "g.121440937T>C" "116/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "rs146903951" "0" "" "" "g.121570228T>C" "" "likely benign" "" "0000168371" "0" "30" "11" "121489563" "121489563" "subst" "0.0377086" "00006" "SORL1_000173" "g.121489563G>A" "116/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 4" "Germline" "" "rs17125548" "0" "" "" "g.121618854G>A" "" "likely benign" "" "0000168372" "0" "30" "11" "121475922" "121475922" "subst" "0.389692" "00006" "SORL1_000151" "g.121475922T>A" "1162/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 1" "Germline" "" "rs3824968" "0" "" "" "g.121605213T>A" "" "likely benign" "" "0000168373" "1" "30" "11" "121495816" "121495816" "subst" "0.0025844" "00006" "SORL1_000185" "g.121495816A>T" "12/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 6" "Germline" "" "rs140327834" "0" "" "" "g.121625107A>T" "" "likely benign" "" "0000168374" "0" "30" "11" "121456962" "121456962" "subst" "0.528432" "00006" "SORL1_000105" "g.121456962C>T" "1279/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs1699102" "0" "" "" "g.121586253C>T" "" "likely benign" "" "0000168375" "0" "30" "11" "121393684" "121393684" "subst" "0.0722131" "00006" "SORL1_000038" "g.121393684G>A" "150/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10; BNR 4" "Germline" "" "rs2298813" "0" "" "" "g.121522975G>A" "" "likely benign" "" "0000168376" "0" "30" "11" "121393684" "121393684" "subst" "0.0722131" "00006" "SORL1_000038" "g.121393684G>A" "194/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10; BNR 4" "Germline" "" "rs2298813" "0" "" "" "g.121522975G>A" "" "likely benign" "" "0000168377" "1" "30" "11" "121415993" "121415993" "subst" "0.00053204" "00006" "SORL1_000046" "g.121415993T>A" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs138438079" "0" "" "" "g.121545284T>A" "" "likely benign" "" "0000168378" "1" "30" "11" "121461856" "121461856" "subst" "0.00031689" "00006" "SORL1_000133" "g.121461856C>T" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121591147C>T" "" "likely benign" "" "0000168379" "1" "30" "11" "121477924" "121477924" "subst" "1.21838E-5" "00006" "SORL1_000159" "g.121477924G>A" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121607215G>A" "" "likely benign" "" "0000168380" "1" "30" "11" "121421341" "121421341" "subst" "5.69009E-5" "00006" "SORL1_000056" "g.121421341C>T" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs373077929" "0" "" "" "g.121550632C>T" "" "likely benign" "" "0000168381" "1" "30" "11" "121421361" "121421361" "subst" "0.000524493" "00006" "SORL1_000057" "g.121421361G>A" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs146438170" "0" "" "" "g.121550652G>A" "" "likely benign" "" "0000168382" "1" "30" "11" "121430322" "121430322" "subst" "7.72125E-5" "00006" "SORL1_000080" "g.121430322C>T" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121559613C>T" "" "likely benign" "" "0000168383" "1" "30" "11" "121458843" "121458843" "subst" "0.000451022" "00006" "SORL1_000116" "g.121458843C>T" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A" "Germline" "" "rs201549653" "0" "" "" "g.121588134C>T" "" "likely benign" "" "0000168384" "1" "30" "11" "121475011" "121475011" "subst" "3.66145E-5" "00006" "SORL1_000148" "g.121475011G>C" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121604302G>C" "" "likely benign" "" "0000168385" "1" "30" "11" "121495911" "121495911" "subst" "0.00123115" "00006" "SORL1_000189" "g.121495911G>A" "3/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 6" "Germline" "" "rs74642146" "0" "" "" "g.121625202G>A" "" "likely benign" "" "0000168386" "1" "30" "11" "121415993" "121415993" "subst" "0.00053204" "00006" "SORL1_000046" "g.121415993T>A" "3/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs138438079" "0" "" "" "g.121545284T>A" "" "likely benign" "" "0000168387" "1" "30" "11" "121485586" "121485586" "subst" "0.000651324" "00006" "SORL1_000165" "g.121485586A>G" "3/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 3; Glycosylation" "Germline" "" "rs117725215" "0" "" "" "g.121614877A>G" "" "likely benign" "" "0000168388" "1" "30" "11" "121384931" "121384931" "subst" "0.00130369" "00006" "SORL1_000027" "g.121384931A>C" "4/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs150609294" "0" "" "" "g.121514222A>C" "" "likely benign" "" "0000168389" "1" "30" "11" "121485586" "121485586" "subst" "0.000651324" "00006" "SORL1_000165" "g.121485586A>G" "5/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 3; Glycosylation" "Germline" "" "rs117725215" "0" "" "" "g.121614877A>G" "" "likely benign" "" "0000168390" "1" "30" "11" "121495911" "121495911" "subst" "0.00123115" "00006" "SORL1_000189" "g.121495911G>A" "5/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 6" "Germline" "" "rs74642146" "0" "" "" "g.121625202G>A" "" "likely benign" "" "0000168391" "0" "30" "11" "121460846" "121460846" "subst" "0.0311678" "00006" "SORL1_000125" "g.121460846C>T" "50/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 8; Disulfide bond" "Germline" "" "rs2276412" "0" "" "" "g.121590137C>T" "" "likely benign" "" "0000168392" "0" "30" "11" "121440937" "121440937" "subst" "0.00803791" "00006" "SORL1_000086" "g.121440937T>C" "50/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "rs146903951" "0" "" "" "g.121570228T>C" "" "likely benign" "" "0000168393" "1" "30" "11" "121384931" "121384931" "subst" "0.00130369" "00006" "SORL1_000027" "g.121384931A>C" "6/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs150609294" "0" "" "" "g.121514222A>C" "" "likely benign" "" "0000168394" "1" "30" "11" "121421361" "121421361" "subst" "0.000524493" "00006" "SORL1_000057" "g.121421361G>A" "6/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs146438170" "0" "" "" "g.121550652G>A" "" "likely benign" "" "0000168395" "0" "30" "11" "121489563" "121489563" "subst" "0.0377086" "00006" "SORL1_000173" "g.121489563G>A" "75/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 4" "Germline" "" "rs17125548" "0" "" "" "g.121618854G>A" "" "likely benign" "" "0000168396" "0" "30" "11" "121460846" "121460846" "subst" "0.0311678" "00006" "SORL1_000125" "g.121460846C>T" "77/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 8; Disulfide bond" "Germline" "" "rs2276412" "0" "" "" "g.121590137C>T" "" "likely benign" "" "0000168397" "0" "30" "11" "121475922" "121475922" "subst" "0.389692" "00006" "SORL1_000151" "g.121475922T>A" "778/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 1" "Germline" "" "rs3824968" "0" "" "" "g.121605213T>A" "" "likely benign" "" "0000168398" "0" "30" "11" "121456962" "121456962" "subst" "0.528432" "00006" "SORL1_000105" "g.121456962C>T" "828/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs1699102" "0" "" "" "g.121586253C>T" "" "likely benign" "" "0000168399" "1" "70" "11" "121340732" "121340732" "subst" "0" "00006" "SORL1_000008" "g.121340732C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121470023C>T" "" "likely pathogenic" "" "0000168400" "1" "70" "11" "121393328" "121393328" "subst" "1.21843E-5" "00006" "SORL1_000034" "g.121393328C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121522619C>T" "" "likely pathogenic" "" "0000168401" "1" "70" "11" "121393412" "121393412" "subst" "0" "00006" "SORL1_000035" "g.121393412G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121522703G>A" "" "likely pathogenic" "" "0000168402" "1" "70" "11" "121393633" "121393633" "subst" "0" "00006" "SORL1_000002" "g.121393633G>C" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121522924G>C" "" "likely pathogenic" "" "0000168403" "1" "70" "11" "121424690" "121424690" "subst" "4.47234E-5" "00006" "SORL1_000061" "g.121424690C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121553981C>T" "" "likely pathogenic" "" "0000168404" "1" "70" "11" "121429443" "121429443" "subst" "4.06151E-6" "00006" "SORL1_000074" "g.121429443C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121558734C>T" "" "likely pathogenic" "" "0000168405" "1" "70" "11" "121448073" "121448073" "subst" "0" "00006" "SORL1_000097" "g.121448073G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121577364G>A" "" "likely pathogenic" "" "0000168406" "1" "70" "11" "121458741" "121458741" "subst" "4.87761E-5" "00006" "SORL1_000110" "g.121458741C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121588032C>T" "" "likely pathogenic" "" "0000168407" "1" "70" "11" "121466430" "121466430" "subst" "4.8821E-5" "00006" "SORL1_000139" "g.121466430C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121595721C>T" "" "likely pathogenic" "" "0000168408" "1" "70" "11" "121477574" "121477574" "subst" "4.06091E-6" "00006" "SORL1_000154" "g.121477574C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121606865C>T" "" "likely pathogenic" "" "0000168409" "1" "70" "11" "121490601" "121490601" "subst" "0" "00006" "SORL1_000176" "g.121490601C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121619892C>T" "" "likely pathogenic" "" "0000168410" "1" "70" "11" "121495890" "121495890" "subst" "0" "00006" "SORL1_000188" "g.121495890G>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121625181G>T" "" "likely pathogenic" "" "0000168411" "1" "70" "11" "121495891" "121495891" "subst" "1.21884E-5" "00006" "SORL1_000188" "g.121495891G>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121625182G>T" "" "likely pathogenic" "" "0000168412" "1" "70" "11" "121461814" "121461814" "subst" "0" "00006" "SORL1_000129" "g.121461814G>C" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121591105G>C" "" "likely pathogenic" "" "0000168413" "1" "70" "11" "121466430" "121466430" "subst" "4.8821E-5" "00006" "SORL1_000139" "g.121466430C>T" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121595721C>T" "" "likely pathogenic" "" "0000168414" "1" "70" "11" "121477574" "121477574" "subst" "4.06091E-6" "00006" "SORL1_000154" "g.121477574C>T" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121606865C>T" "" "likely pathogenic" "" "0000168415" "1" "70" "11" "121383766" "121383766" "subst" "3.65497E-5" "00006" "SORL1_000022" "g.121383766C>T" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121513057C>T" "" "likely pathogenic" "" "0000168416" "1" "70" "11" "121485607" "121485607" "subst" "8.1582E-6" "00006" "SORL1_000168" "g.121485607A>G" "2/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 3" "Germline" "" "rs772677709" "0" "" "" "g.121614898A>G" "" "likely pathogenic" "" "0000168417" "1" "90" "11" "121384869" "121384876" "del" "0" "00006" "SORL1_000024" "g.121384869_121384876del" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "1050_1057del CATCGCAG" "" "Germline" "" "" "0" "" "" "g.121514160_121514167del" "" "pathogenic" "" "0000168418" "1" "90" "11" "121391400" "121391400" "subst" "0" "00006" "SORL1_000029" "g.121391400C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121520691C>T" "" "pathogenic" "" "0000168419" "1" "90" "11" "121391492" "121391492" "dup" "0" "00006" "SORL1_000030" "g.121391492dup" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "1338insA" "" "Germline" "" "" "0" "" "" "g.121520783dup" "" "pathogenic" "" "0000168420" "1" "90" "11" "121416055" "121416061" "del" "0" "00006" "SORL1_000049" "g.121416055_121416061del" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "1966_1972delCCCCATG" "" "Germline" "" "" "0" "" "" "g.121545346_121545352del" "" "pathogenic" "" "0000168421" "1" "90" "11" "121421366" "121421367" "del" "0" "00006" "SORL1_000058" "g.121421366_121421367del" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121550657_121550658del" "" "pathogenic" "" "0000168422" "1" "90" "11" "121440948" "121440948" "del" "0" "00006" "SORL1_000087" "g.121440948del" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121570239del" "" "pathogenic" "" "0000168423" "1" "90" "11" "121461820" "121461820" "subst" "0" "00006" "SORL1_000130" "g.121461820C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "LDLR class A" "Germline" "" "" "0" "" "" "g.121591111C>T" "" "pathogenic" "" "0000168424" "1" "90" "11" "121481786" "121481786" "del" "0" "00006" "SORL1_000163" "g.121481786del" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121611077del" "" "pathogenic" "" "0000168425" "1" "50" "11" "121460806" "121460806" "subst" "7.7158E-5" "00006" "SORL1_000123" "g.121460806G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121590097G>A" "" "likely benign" "" "0000168426" "1" "50" "11" "121475859" "121475859" "subst" "0.000459155" "00006" "SORL1_000150" "g.121475859G>C" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 1" "Germline" "" "rs138580875" "0" "" "" "g.121605150G>C" "" "likely benign" "" "0000168427" "0" "50" "11" "121367627" "121367627" "subst" "0.0150711" "00006" "SORL1_000017" "g.121367627G>A" "116/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs117260922" "0" "" "" "g.121496918G>A" "" "likely benign" "" "0000168428" "1" "50" "11" "121421313" "121421313" "subst" "0.00106042" "00006" "SORL1_000055" "g.121421313G>A" "3/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs148430425" "0" "" "" "g.121550604G>A" "" "likely benign" "" "0000168429" "1" "50" "11" "121475859" "121475859" "subst" "0.000459155" "00006" "SORL1_000150" "g.121475859G>C" "3/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "Fibronectin type-III 1" "Germline" "" "rs138580875" "0" "" "" "g.121605150G>C" "" "likely benign" "" "0000168430" "1" "50" "11" "121421313" "121421313" "subst" "0.00106042" "00006" "SORL1_000055" "g.121421313G>A" "4/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs148430425" "0" "" "" "g.121550604G>A" "" "likely benign" "" "0000168431" "0" "50" "11" "121367627" "121367627" "subst" "0.0150711" "00006" "SORL1_000017" "g.121367627G>A" "50/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10" "Germline" "" "rs117260922" "0" "" "" "g.121496918G>A" "" "likely benign" "" "0000168432" "1" "50" "11" "121348844" "121348844" "subst" "0" "00006" "SORL1_000012" "g.121348844C>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121478135C>A" "" "VUS" "" "0000168433" "1" "50" "11" "121348860" "121348860" "subst" "0" "00006" "SORL1_000013" "g.121348860A>C" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121478151A>C" "" "VUS" "" "0000168434" "1" "50" "11" "121367738" "121367738" "subst" "4.06838E-6" "00006" "SORL1_000019" "g.121367738A>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121497029A>G" "" "VUS" "" "0000168435" "1" "50" "11" "121424664" "121424664" "subst" "0" "00006" "SORL1_000059" "g.121424664T>C" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121553955T>C" "" "VUS" "" "0000168436" "1" "50" "11" "121425910" "121425910" "subst" "0" "00006" "SORL1_000066" "g.121425910T>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121555201T>G" "" "VUS" "" "0000168437" "1" "50" "11" "121429460" "121429460" "subst" "0" "00006" "SORL1_000075" "g.121429460T>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121558751T>G" "" "VUS" "" "0000168438" "1" "50" "11" "121456970" "121456970" "subst" "4.06134E-6" "00006" "SORL1_000106" "g.121456970G>C" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121586261G>C" "" "VUS" "" "0000168439" "1" "50" "11" "121458846" "121458846" "subst" "0" "00006" "SORL1_000117" "g.121458846C>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121588137C>G" "" "VUS" "" "0000168440" "1" "50" "11" "121460051" "121460051" "subst" "0" "00006" "SORL1_000119" "g.121460051T>C" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121589342T>C" "" "VUS" "" "0000168441" "1" "50" "11" "121461721" "121461721" "subst" "4.06101E-6" "00006" "SORL1_000126" "g.121461721C>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121591012C>T" "" "VUS" "" "0000168442" "1" "50" "11" "121461835" "121461835" "subst" "0" "00006" "SORL1_000131" "g.121461835G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121591126G>A" "" "VUS" "" "0000168443" "1" "50" "11" "121461854" "121461854" "subst" "0" "00006" "SORL1_000132" "g.121461854G>C" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121591145G>C" "" "VUS" "" "0000168444" "1" "50" "11" "121466411" "121466411" "subst" "4.0702E-6" "00006" "SORL1_000138" "g.121466411G>T" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121595702G>T" "" "VUS" "" "0000168445" "1" "50" "11" "121474946" "121474946" "subst" "4.0619E-6" "00006" "SORL1_000144" "g.121474946G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121604237G>A" "" "VUS" "" "0000168446" "1" "50" "11" "121475024" "121475024" "subst" "0" "00006" "SORL1_000149" "g.121475024G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121604315G>A" "" "VUS" "" "0000168447" "1" "50" "11" "121490610" "121490610" "subst" "4.06312E-6" "00006" "SORL1_000177" "g.121490610C>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121619901C>G" "" "VUS" "" "0000168448" "1" "50" "11" "121491923" "121491923" "subst" "0" "00006" "SORL1_000182" "g.121491923G>A" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121621214G>A" "" "VUS" "" "0000168449" "1" "50" "11" "121498420" "121498420" "subst" "0" "00006" "SORL1_000195" "g.121498420A>G" "1/1255 cases" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121627711A>G" "" "VUS" "" "0000168450" "1" "50" "11" "121348844" "121348844" "subst" "0" "00006" "SORL1_000012" "g.121348844C>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121478135C>A" "" "VUS" "" "0000168451" "1" "50" "11" "121416011" "121416011" "subst" "8.12295E-6" "00006" "SORL1_000048" "g.121416011G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121545302G>A" "" "VUS" "" "0000168452" "1" "50" "11" "121416108" "121416108" "subst" "0" "00006" "SORL1_000050" "g.121416108A>G" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "VPS10; Glycosylation" "Germline" "" "" "0" "" "" "g.121545399A>G" "" "VUS" "" "0000168453" "1" "50" "11" "121424799" "121424799" "subst" "0" "00006" "SORL1_000064" "g.121424799T>C" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121554090T>C" "" "VUS" "" "0000168454" "1" "50" "11" "121426010" "121426010" "subst" "0" "00006" "SORL1_000068" "g.121426010G>C" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121555301G>C" "" "VUS" "" "0000168455" "1" "50" "11" "121430256" "121430256" "subst" "0" "00006" "SORL1_000078" "g.121430256A>G" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121559547A>G" "" "VUS" "" "0000168456" "1" "50" "11" "121457025" "121457025" "subst" "0" "00006" "SORL1_000108" "g.121457025T>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121586316T>A" "" "VUS" "" "0000168457" "1" "50" "11" "121458806" "121458806" "subst" "1.21886E-5" "00006" "SORL1_000114" "g.121458806G>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121588097G>A" "" "VUS" "" "0000168458" "1" "50" "11" "121458846" "121458846" "subst" "0" "00006" "SORL1_000117" "g.121458846C>G" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121588137C>G" "" "VUS" "" "0000168459" "1" "50" "11" "121466473" "121466473" "subst" "4.09045E-6" "00006" "SORL1_000142" "g.121466473C>A" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121595764C>A" "" "VUS" "" "0000168460" "1" "50" "11" "121489531" "121489531" "subst" "0" "00006" "SORL1_000172" "g.121489531C>T" "1/1938 controls" "{PMID:Verheijen 2016:27026413}, {DOI:Verheijen 2016:10.1007/s00401-016-1566-9}" "" "" "" "Germline" "" "" "0" "" "" "g.121618822C>T" "" "VUS" "" "0000168465" "1" "50" "11" "121383847" "121383847" "subst" "0" "01957" "SORL1_000023" "g.121383847A>G" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121513138A>G" "" "VUS" "" "0000168466" "1" "50" "11" "121393596" "121393596" "subst" "4.4674E-5" "01957" "SORL1_000037" "g.121393596T>G" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs375003535" "0" "" "" "g.121522887T>G" "" "VUS" "" "0000168467" "1" "50" "11" "121393714" "121393714" "subst" "0" "01957" "SORL1_000039" "g.121393714C>T" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs746124531" "0" "" "" "g.121523005C>T" "" "VUS" "" "0000168468" "1" "50" "11" "121414229" "121414229" "subst" "5.39052E-5" "01957" "SORL1_000042" "g.121414229A>T" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs755200777" "0" "" "" "g.121543520A>T" "" "VUS" "" "0000168469" "1" "50" "11" "121440989" "121440989" "subst" "0" "01957" "SORL1_000090" "g.121440989C>T" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121570280C>T" "" "VUS" "" "0000168470" "1" "50" "11" "121445084" "121445084" "subst" "0.996135" "01957" "SORL1_000092" "g.121445084T>C" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs1792126" "0" "" "" "g.121574375T>C" "" "VUS" "" "0000168471" "1" "50" "11" "121445085" "121445085" "subst" "4.0657E-6" "01957" "SORL1_000093" "g.121445085C>T" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121574376C>T" "" "VUS" "" "0000168472" "1" "50" "11" "121454141" "121454141" "subst" "4.68129E-5" "01957" "SORL1_000099" "g.121454141G>A" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs201900417" "0" "" "" "g.121583432G>A" "" "VUS" "" "0000168473" "1" "50" "11" "121461878" "121461878" "subst" "0" "01957" "SORL1_000134" "g.121461878C>T" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121591169C>T" "" "VUS" "" "0000168474" "1" "50" "11" "121477879" "121477879" "subst" "0" "01957" "SORL1_000158" "g.121477879T>G" "1" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121607170T>G" "" "VUS" "" "0000168475" "1" "30" "11" "121358784" "121358784" "subst" "2.84273E-5" "01957" "SORL1_000014" "g.121358784T>C" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs376227818" "0" "" "" "g.121488075T>C" "" "likely benign" "" "0000168476" "1" "70" "11" "121367726" "121367726" "subst" "5.28339E-5" "01957" "SORL1_000018" "g.121367726C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs372363423" "0" "" "" "g.121497017C>T" "" "likely pathogenic" "" "0000168477" "1" "30" "11" "121383713" "121383713" "subst" "4.06359E-6" "01957" "SORL1_000020" "g.121383713A>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs780440355" "0" "" "" "g.121513004A>T" "" "likely benign" "" "0000168478" "1" "30" "11" "121383742" "121383742" "subst" "2.03065E-5" "01957" "SORL1_000021" "g.121383742G>C" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs541387363" "0" "" "" "g.121513033G>C" "" "likely benign" "" "0000168479" "1" "10" "11" "121391563" "121391563" "subst" "0" "01957" "SORL1_000032" "g.121391563T>C" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121520854T>C" "" "benign" "" "0000168480" "1" "70" "11" "121393311" "121393311" "subst" "0" "01957" "SORL1_000033" "g.121393311C>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "" "0" "" "" "g.121522602C>G" "" "likely pathogenic" "" "0000168481" "1" "10" "11" "121403230" "121403230" "subst" "1.219E-5" "01957" "SORL1_000040" "g.121403230A>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs188600397" "0" "" "" "g.121532521A>G" "" "benign" "" "0000168482" "1" "30" "11" "121414320" "121414320" "subst" "0.000455233" "01957" "SORL1_000045" "g.121414320G>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs146864372" "0" "" "" "g.121543611G>A" "" "likely benign" "" "0000168483" "1" "10" "11" "121420702" "121420702" "subst" "2.4371E-5" "01957" "SORL1_000052" "g.121420702A>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs147187803" "0" "" "" "g.121549993A>G" "" "benign" "" "0000168484" "1" "10" "11" "121424671" "121424671" "subst" "0" "01957" "SORL1_000060" "g.121424671T>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121553962T>A" "" "benign" "" "0000168485" "1" "50" "11" "121424716" "121424716" "subst" "0" "01957" "SORL1_000062" "g.121424716C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs538244145" "0" "" "" "g.121554007C>T" "" "VUS" "" "0000168486" "1" "30" "11" "121424735" "121424735" "subst" "6.50063E-5" "01957" "SORL1_000063" "g.121424735G>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121554026G>A" "" "likely benign" "" "0000168487" "1" "30" "11" "121429423" "121429423" "subst" "0.000215253" "01957" "SORL1_000073" "g.121429423C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class B 3" "Germline" "" "rs188932219" "0" "" "" "g.121558714C>T" "" "likely benign" "" "0000168488" "1" "10" "11" "121430189" "121430189" "subst" "0.0012201" "01957" "SORL1_000077" "g.121430189C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs186873977" "0" "" "" "g.121559480C>T" "" "benign" "" "0000168489" "1" "50" "11" "121440885" "121440885" "subst" "0" "01957" "SORL1_000083" "g.121440885C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A" "Germline" "" "" "0" "" "" "g.121570176C>T" "" "VUS" "" "0000168490" "3" "30" "11" "121440937" "121440937" "subst" "0.00803791" "01957" "SORL1_000086" "g.121440937T>C" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "rs146903951" "0" "" "" "g.121570228T>C" "" "likely benign" "" "0000168491" "1" "30" "11" "121447997" "121447997" "subst" "3.98392E-5" "01957" "SORL1_000094" "g.121447997C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 3" "Germline" "" "" "0" "" "" "g.121577288C>T" "" "likely benign" "" "0000168492" "1" "30" "11" "121454206" "121454206" "subst" "0.00101999" "01957" "SORL1_000101" "g.121454206G>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 4; Disulfide bond" "Germline" "" "rs114830255" "0" "" "" "g.121583497G>A" "" "likely benign" "" "0000168493" "1" "50" "11" "121458749" "121458749" "subst" "4.06372E-6" "01957" "SORL1_000112" "g.121458749A>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 6; Disulfide bond" "Germline" "" "" "0" "" "" "g.121588040A>G" "" "VUS" "" "0000168494" "1" "30" "11" "121458826" "121458826" "subst" "6.09394E-5" "01957" "SORL1_000115" "g.121458826C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 6; Disulfide bond" "Germline" "" "rs199677752" "0" "" "" "g.121588117C>T" "" "likely benign" "" "0000168495" "1" "30" "11" "121458843" "121458843" "subst" "0.000451022" "01957" "SORL1_000116" "g.121458843C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A" "Germline" "" "rs201549653" "0" "" "" "g.121588134C>T" "" "likely benign" "" "0000168496" "1" "50" "11" "121460056" "121460056" "subst" "8.12123E-6" "01957" "SORL1_000120" "g.121460056C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A" "Germline" "" "" "0" "" "" "g.121589347C>T" "" "VUS" "" "0000168497" "1" "10" "11" "121460711" "121460711" "dup" "0" "01957" "SORL1_000122" "g.121460711dup" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121590002dup" "" "benign" "" "0000168498" "1" "30" "11" "121466410" "121466410" "subst" "0.000227891" "01957" "SORL1_000137" "g.121466410C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 10; Disulfide bond" "Germline" "" "rs138846404" "0" "" "" "g.121595701C>T" "" "likely benign" "" "0000168499" "1" "30" "11" "121466431" "121466431" "subst" "1.62782E-5" "01957" "SORL1_000140" "g.121466431G>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 10; Disulfide bond" "Germline" "" "rs376955109" "0" "" "" "g.121595722G>A" "" "likely benign" "" "0000168500" "1" "70" "11" "121466463" "121466463" "subst" "2.8564E-5" "01957" "SORL1_000141" "g.121466463C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 10; Disulfide bond" "Germline" "" "" "0" "" "" "g.121595754C>T" "" "likely pathogenic" "" "0000168501" "1" "30" "11" "121474987" "121474987" "subst" "4.06299E-5" "01957" "SORL1_000146" "g.121474987C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 11; Disulfide bond" "Germline" "" "rs376240326" "0" "" "" "g.121604278C>T" "" "likely benign" "" "0000168502" "1" "50" "11" "121476191" "121476191" "subst" "0" "01957" "SORL1_000153" "g.121476191A>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 1" "Germline" "" "" "0" "" "" "g.121605482A>T" "" "VUS" "" "0000168503" "1" "30" "11" "121477628" "121477628" "subst" "6.90344E-5" "01957" "SORL1_000156" "g.121477628C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 2" "Germline" "" "rs200758028" "0" "" "" "g.121606919C>T" "" "likely benign" "" "0000168504" "1" "10" "11" "121477645" "121477645" "subst" "4.06194E-6" "01957" "SORL1_000157" "g.121477645T>C" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 2" "Germline" "" "" "0" "" "" "g.121606936T>C" "" "benign" "" "0000168505" "1" "50" "11" "121477924" "121477924" "subst" "2.43677E-5" "01957" "SORL1_000160" "g.121477924G>C" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 2" "Germline" "" "" "0" "" "" "g.121607215G>C" "" "VUS" "" "0000168506" "1" "10" "11" "121483547" "121483547" "subst" "0" "01957" "SORL1_000164" "g.121483547A>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121612838A>G" "" "benign" "" "0000168507" "1" "30" "11" "121485586" "121485586" "subst" "0.000651324" "01957" "SORL1_000165" "g.121485586A>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 3; Glycosylation" "Germline" "" "rs117725215" "0" "" "" "g.121614877A>G" "" "likely benign" "" "0000168508" "1" "30" "11" "121489496" "121489496" "subst" "2.43665E-5" "01957" "SORL1_000171" "g.121489496T>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 4" "Germline" "" "rs368691606" "0" "" "" "g.121618787T>A" "" "likely benign" "" "0000168509" "1" "10" "11" "121491764" "121491764" "dup" "0" "01957" "SORL1_000178" "g.121491764dup" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121621055dup" "" "benign" "" "0000168510" "1" "10" "11" "121491904" "121491904" "subst" "0.0005241" "01957" "SORL1_000181" "g.121491904A>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 5" "Germline" "" "rs141089496" "0" "" "" "g.121621195A>G" "" "benign" "" "0000168511" "1" "30" "11" "121495791" "121495791" "subst" "7.09161E-5" "01957" "SORL1_000184" "g.121495791C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs370304688" "0" "" "" "g.121625082C>T" "" "likely benign" "" "0000168512" "1" "50" "11" "121495857" "121495857" "subst" "0" "01957" "SORL1_000186" "g.121495857G>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 6" "Germline" "" "" "0" "" "" "g.121625148G>A" "" "VUS" "" "0000168513" "1" "30" "11" "121495870" "121495870" "subst" "0.00281118" "01957" "SORL1_000187" "g.121495870A>G" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 6" "Germline" "" "rs74811057" "0" "" "" "g.121625161A>G" "" "likely benign" "" "0000168514" "1" "30" "11" "121495911" "121495911" "subst" "0.00123115" "01957" "SORL1_000189" "g.121495911G>A" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 6" "Germline" "" "rs74642146" "0" "" "" "g.121625202G>A" "" "likely benign" "" "0000168515" "1" "30" "11" "121498378" "121498378" "subst" "0.000235611" "01957" "SORL1_000194" "g.121498378C>T" "1/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs372203239" "0" "" "" "g.121627669C>T" "" "likely benign" "" "0000168516" "1" "30" "11" "121348842" "121348842" "subst" "0.000345209" "01957" "SORL1_000011" "g.121348842G>A" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10; BNR 1" "Germline" "" "rs140888526" "0" "" "" "g.121478133G>A" "" "likely benign" "" "0000168517" "3" "50" "11" "121367627" "121367627" "subst" "0.0150711" "01957" "SORL1_000017" "g.121367627G>A" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs117260922" "0" "" "" "g.121496918G>A" "" "likely benign" "" "0000168518" "1" "30" "11" "121393578" "121393578" "subst" "9.7496E-5" "01957" "SORL1_000036" "g.121393578C>A" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs371311928" "0" "" "" "g.121522869C>A" "" "likely benign" "" "0000168519" "1" "30" "11" "121448072" "121448072" "subst" "3.67464E-5" "01957" "SORL1_000096" "g.121448072C>T" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "" "0" "" "" "g.121577363C>T" "" "likely benign" "" "0000168520" "1" "30" "11" "121454251" "121454251" "subst" "2.86808E-5" "01957" "SORL1_000102" "g.121454251C>T" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 4; Disulfide bond" "Germline" "" "rs377348849" "0" "" "" "g.121583542C>T" "" "likely benign" "" "0000168521" "1" "10" "11" "121456920" "121456920" "subst" "9.34132E-5" "01957" "SORL1_000104" "g.121456920T>C" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs371434117" "0" "" "" "g.121586211T>C" "" "benign" "" "0000168522" "1" "30" "11" "121456996" "121456996" "subst" "2.84322E-5" "01957" "SORL1_000107" "g.121456996G>A" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs145960733" "0" "" "" "g.121586287G>A" "" "likely benign" "" "0000168523" "1" "50" "11" "121475859" "121475859" "subst" "0.000459155" "01957" "SORL1_000150" "g.121475859G>C" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 1" "Germline" "" "rs138580875" "0" "" "" "g.121605150G>C" "" "likely benign" "" "0000168524" "1" "10" "11" "121489618" "121489618" "subst" "0.000483543" "01957" "SORL1_000174" "g.121489618C>T" "2/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs377174833" "0" "" "" "g.121618909C>T" "" "benign" "" "0000168525" "3" "30" "11" "121393684" "121393684" "subst" "0.0722131" "01957" "SORL1_000038" "g.121393684G>A" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10; BNR 4" "Germline" "" "rs2298813" "0" "" "" "g.121522975G>A" "" "likely benign" "" "0000168526" "1" "50" "11" "121421313" "121421313" "subst" "0.00106042" "01957" "SORL1_000055" "g.121421313G>A" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs148430425" "0" "" "" "g.121550604G>A" "" "likely benign" "" "0000168527" "1" "30" "11" "121421341" "121421341" "subst" "5.69009E-5" "01957" "SORL1_000056" "g.121421341C>T" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs373077929" "0" "" "" "g.121550632C>T" "" "likely benign" "" "0000168528" "1" "30" "11" "121421361" "121421361" "subst" "0.000524493" "01957" "SORL1_000057" "g.121421361G>A" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs146438170" "0" "" "" "g.121550652G>A" "" "likely benign" "" "0000168529" "3" "10" "11" "121425955" "121425955" "subst" "0.0557393" "01957" "SORL1_000067" "g.121425955A>T" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class B 1" "Germline" "" "rs78274293" "0" "" "" "g.121555246A>T" "" "benign" "" "0000168530" "1" "30" "11" "121448030" "121448030" "subst" "0.000236855" "01957" "SORL1_000095" "g.121448030C>G" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "rs151312897" "0" "" "" "g.121577321C>G" "" "likely benign" "" "0000168531" "3" "10" "11" "121454149" "121454149" "subst" "0.0802539" "01957" "SORL1_000100" "g.121454149C>G" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs73595277" "0" "" "" "g.121583440C>G" "" "benign" "" "0000168532" "1" "30" "11" "121454252" "121454252" "subst" "4.92134E-5" "01957" "SORL1_000103" "g.121454252G>C" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 4; Disulfide bond" "Germline" "" "rs141401572" "0" "" "" "g.121583543G>C" "" "likely benign" "" "0000168533" "1" "10" "11" "121474889" "121474889" "subst" "0" "01957" "SORL1_000143" "g.121474889C>G" "3/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121604180C>G" "" "benign" "" "0000168534" "1" "10" "11" "121425881" "121425881" "subst" "0.000415395" "01957" "SORL1_000065" "g.121425881C>T" "4/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs377106386" "0" "" "" "g.121555172C>T" "" "benign" "" "0000168535" "1" "30" "11" "121384931" "121384931" "subst" "0.00130369" "01957" "SORL1_000027" "g.121384931A>C" "5/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs150609294" "0" "" "" "g.121514222A>C" "" "likely benign" "" "0000168536" "1" "30" "11" "121415993" "121415993" "subst" "0.00053204" "01957" "SORL1_000046" "g.121415993T>A" "5/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs138438079" "0" "" "" "g.121545284T>A" "" "likely benign" "" "0000168537" "1" "30" "11" "121495940" "121495940" "subst" "0.00115859" "01957" "SORL1_000190" "g.121495940G>A" "5/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 6" "Germline" "" "rs149393026" "0" "" "" "g.121625231G>A" "" "likely benign" "" "0000168538" "1" "10" "11" "121420826" "121420826" "subst" "7.08806E-5" "01957" "SORL1_000053" "g.121420826G>C" "6/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs201689464" "0" "" "" "g.121550117G>C" "" "benign" "" "0000168539" "1" "10" "11" "121485608" "121485608" "subst" "0.00259467" "01957" "SORL1_000169" "g.121485608T>C" "7/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 3" "Germline" "" "rs150315143" "0" "" "" "g.121614899T>C" "" "benign" "" "0000168540" "1" "30" "11" "121495816" "121495816" "subst" "0.0025844" "01957" "SORL1_000185" "g.121495816A>T" "14/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 6" "Germline" "" "rs140327834" "0" "" "" "g.121625107A>T" "" "likely benign" "" "0000168541" "1" "10" "11" "121485599" "121485599" "subst" "0.00508206" "01957" "SORL1_000167" "g.121485599T>A" "21/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 3" "Germline" "" "rs62622819" "0" "" "" "g.121614890T>A" "" "benign" "" "0000168542" "1" "30" "11" "121440937" "121440937" "subst" "0.00803791" "01957" "SORL1_000086" "g.121440937T>C" "25/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "rs146903951" "0" "" "" "g.121570228T>C" "" "likely benign" "" "0000168543" "1" "10" "11" "121460706" "121460706" "subst" "0.00607387" "01957" "SORL1_000121" "g.121460706C>G" "29/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs150253019" "0" "" "" "g.121589997C>G" "" "benign" "" "0000168544" "1" "10" "11" "121444958" "121444958" "subst" "0.00523233" "01957" "SORL1_000091" "g.121444958A>G" "39/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 2" "Germline" "" "rs62617129" "0" "" "" "g.121574249A>G" "" "benign" "" "0000168545" "1" "50" "11" "121367627" "121367627" "subst" "0.0150711" "01957" "SORL1_000017" "g.121367627G>A" "42/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs117260922" "0" "" "" "g.121496918G>A" "" "likely benign" "" "0000168546" "3" "10" "11" "121448090" "121448090" "subst" "0.320775" "01957" "SORL1_000098" "g.121448090T>G" "54/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "rs2070045" "0" "" "" "g.121577381T>G" "" "benign" "" "0000168547" "1" "10" "11" "121457048" "121457048" "subst" "0.0178677" "01957" "SORL1_000109" "g.121457048T>G" "56/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs146197030" "0" "" "" "g.121586339T>G" "" "benign" "" "0000168548" "1" "10" "11" "121426042" "121426042" "subst" "0.024218" "01957" "SORL1_000069" "g.121426042G>A" "59/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs6589885" "0" "" "" "g.121555333G>A" "" "benign" "" "0000168549" "1" "30" "11" "121460846" "121460846" "subst" "0.0311678" "01957" "SORL1_000125" "g.121460846C>T" "61/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 8; Disulfide bond" "Germline" "" "rs2276412" "0" "" "" "g.121590137C>T" "" "likely benign" "" "0000168550" "1" "30" "11" "121489563" "121489563" "subst" "0.0377086" "01957" "SORL1_000173" "g.121489563G>A" "61/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 4" "Germline" "" "rs17125548" "0" "" "" "g.121618854G>A" "" "likely benign" "" "0000168551" "1" "30" "11" "121393684" "121393684" "subst" "0.0722131" "01957" "SORL1_000038" "g.121393684G>A" "100/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10; BNR 4" "Germline" "" "rs2298813" "0" "" "" "g.121522975G>A" "" "likely benign" "" "0000168552" "3" "30" "11" "121475922" "121475922" "subst" "0.389692" "01957" "SORL1_000151" "g.121475922T>A" "112/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 1" "Germline" "" "rs3824968" "0" "" "" "g.121605213T>A" "" "likely benign" "" "0000168553" "1" "10" "11" "121425955" "121425955" "subst" "0.0557393" "01957" "SORL1_000067" "g.121425955A>T" "160/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class B 1" "Germline" "" "rs78274293" "0" "" "" "g.121555246A>T" "" "benign" "" "0000168554" "1" "10" "11" "121454149" "121454149" "subst" "0.0802539" "01957" "SORL1_000100" "g.121454149C>G" "175/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs73595277" "0" "" "" "g.121583440C>G" "" "benign" "" "0000168555" "3" "10" "11" "121367626" "121367626" "subst" "0.489331" "01957" "SORL1_000016" "g.121367626T>C" "313/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs12364988" "0" "" "" "g.121496917T>C" "" "benign" "" "0000168556" "1" "10" "11" "121448090" "121448090" "subst" "0.320775" "01957" "SORL1_000098" "g.121448090T>G" "417/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "rs2070045" "0" "" "" "g.121577381T>G" "" "benign" "" "0000168557" "1" "30" "11" "121475922" "121475922" "subst" "0.389692" "01957" "SORL1_000151" "g.121475922T>A" "523/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 1" "Germline" "" "rs3824968" "0" "" "" "g.121605213T>A" "" "likely benign" "" "0000168558" "1" "30" "11" "121456962" "121456962" "subst" "0.528432" "01957" "SORL1_000105" "g.121456962C>T" "546/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs1699102" "0" "" "" "g.121586253C>T" "" "likely benign" "" "0000168559" "1" "10" "11" "121367626" "121367626" "subst" "0.489331" "01957" "SORL1_000016" "g.121367626T>C" "647/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs12364988" "0" "" "" "g.121496917T>C" "" "benign" "" "0000168560" "3" "30" "11" "121456962" "121456962" "subst" "0.528432" "01957" "SORL1_000105" "g.121456962C>T" "666/1268 controls" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs1699102" "0" "" "" "g.121586253C>T" "" "likely benign" "" "0000168561" "1" "30" "11" "121340775" "121340775" "subst" "3.24884E-5" "01957" "SORL1_000009" "g.121340775C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs78397535" "0" "" "" "g.121470066C>T" "" "likely benign" "" "0000168562" "1" "10" "11" "121348824" "121348824" "subst" "1.62737E-5" "01957" "SORL1_000010" "g.121348824C>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121478115C>G" "" "benign" "" "0000168563" "1" "70" "11" "121367726" "121367726" "subst" "5.28339E-5" "01957" "SORL1_000018" "g.121367726C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs372363423" "0" "" "" "g.121497017C>T" "" "likely pathogenic" "" "0000168564" "1" "30" "11" "121383742" "121383742" "subst" "2.03065E-5" "01957" "SORL1_000021" "g.121383742G>C" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs541387363" "0" "" "" "g.121513033G>C" "" "likely benign" "" "0000168565" "1" "30" "11" "121384872" "121384872" "subst" "2.04646E-5" "01957" "SORL1_000025" "g.121384872C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "" "0" "" "" "g.121514163C>T" "" "likely benign" "" "0000168566" "1" "30" "11" "121384884" "121384884" "subst" "3.66975E-5" "01957" "SORL1_000026" "g.121384884C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs142899731" "0" "" "" "g.121514175C>T" "" "likely benign" "" "0000168567" "1" "30" "11" "121384991" "121384991" "subst" "2.84389E-5" "01957" "SORL1_000028" "g.121384991A>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs139710266" "0" "" "" "g.121514282A>G" "" "likely benign" "" "0000168568" "1" "30" "11" "121391530" "121391530" "subst" "4.68436E-5" "01957" "SORL1_000031" "g.121391530C>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs183081520" "0" "" "" "g.121520821C>A" "" "likely benign" "" "0000168569" "1" "30" "11" "121403254" "121403254" "subst" "0.000166709" "01957" "SORL1_000041" "g.121403254G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs150303243" "0" "" "" "g.121532545G>A" "" "likely benign" "" "0000168570" "1" "50" "11" "121414313" "121414313" "subst" "0" "01957" "SORL1_000044" "g.121414313T>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "" "0" "" "" "g.121543604T>G" "" "VUS" "" "0000168571" "1" "30" "11" "121414320" "121414320" "subst" "0.000455233" "01957" "SORL1_000045" "g.121414320G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs146864372" "0" "" "" "g.121543611G>A" "" "likely benign" "" "0000168572" "1" "50" "11" "121416108" "121416108" "subst" "0" "01957" "SORL1_000050" "g.121416108A>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10; Glycosylation" "Germline" "" "" "0" "" "" "g.121545399A>G" "" "VUS" "" "0000168573" "1" "70" "11" "121416123" "121416123" "subst" "8.13769E-6" "01957" "SORL1_000051" "g.121416123G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "" "0" "" "" "g.121545414G>A" "" "likely pathogenic" "" "0000168574" "1" "70" "11" "121421299" "121421299" "subst" "2.84414E-5" "01957" "SORL1_000054" "g.121421299G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "" "0" "" "" "g.121550590G>A" "" "likely pathogenic" "" "0000168575" "1" "50" "11" "121421313" "121421313" "subst" "0.00106042" "01957" "SORL1_000055" "g.121421313G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs148430425" "0" "" "" "g.121550604G>A" "" "likely benign" "" "0000168576" "1" "90" "11" "121421343" "121421343" "subst" "1.21922E-5" "01957" "SORL1_000196" "g.121421343C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "" "0" "" "" "g.121550634C>T" "" "pathogenic" "" "0000168577" "1" "90" "11" "121429519" "121429522" "del" "0" "01957" "SORL1_000076" "g.121429519_121429522del" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class B 4" "Germline" "" "" "0" "" "" "g.121558810_121558813del" "" "pathogenic" "" "0000168578" "1" "10" "11" "121430189" "121430189" "subst" "0.0012201" "01957" "SORL1_000077" "g.121430189C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs186873977" "0" "" "" "g.121559480C>T" "" "benign" "" "0000168579" "1" "90" "11" "121430319" "121430322" "dup" "0" "01957" "SORL1_000079" "g.121430319_121430322dup" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class B 5" "Germline" "" "" "0" "" "" "g.121559610_121559613dup" "" "pathogenic" "" "0000168580" "1" "70" "11" "121440880" "121440880" "subst" "2.84541E-5" "01957" "SORL1_000082" "g.121440880C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "rs376993434" "0" "" "" "g.121570171C>T" "" "likely pathogenic" "" "0000168581" "1" "50" "11" "121440922" "121440922" "subst" "0" "01957" "SORL1_000085" "g.121440922A>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A" "Germline" "" "" "0" "" "" "g.121570213A>G" "" "VUS" "" "0000168582" "3" "30" "11" "121440937" "121440937" "subst" "0.00803791" "01957" "SORL1_000086" "g.121440937T>C" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "rs146903951" "0" "" "" "g.121570228T>C" "" "likely benign" "" "0000168583" "1" "70" "11" "121440955" "121440955" "subst" "0" "01957" "SORL1_000088" "g.121440955G>C" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "" "0" "" "" "g.121570246G>C" "" "likely pathogenic" "" "0000168584" "3" "10" "11" "121454149" "121454149" "subst" "0.0802539" "01957" "SORL1_000100" "g.121454149C>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs73595277" "0" "" "" "g.121583440C>G" "" "benign" "" "0000168585" "1" "30" "11" "121454251" "121454251" "subst" "2.86808E-5" "01957" "SORL1_000102" "g.121454251C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 4; Disulfide bond" "Germline" "" "rs377348849" "0" "" "" "g.121583542C>T" "" "likely benign" "" "0000168586" "1" "10" "11" "121456920" "121456920" "subst" "9.34132E-5" "01957" "SORL1_000104" "g.121456920T>C" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs371434117" "0" "" "" "g.121586211T>C" "" "benign" "" "0000168587" "1" "30" "11" "121456996" "121456996" "subst" "2.84322E-5" "01957" "SORL1_000107" "g.121456996G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs145960733" "0" "" "" "g.121586287G>A" "" "likely benign" "" "0000168588" "1" "10" "11" "121458742" "121458742" "subst" "2.43879E-5" "01957" "SORL1_000111" "g.121458742G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A" "Germline" "" "rs536340053" "0" "" "" "g.121588033G>A" "" "benign" "" "0000168589" "1" "10" "11" "121460711" "121460711" "dup" "0" "01957" "SORL1_000122" "g.121460711dup" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121590002dup" "" "benign" "" "0000168590" "1" "90" "11" "121460819" "121460822" "del" "0" "01957" "SORL1_000124" "g.121460819_121460822del" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 8; Disulfide bond" "Germline" "" "" "0" "" "" "g.121590110_121590113del" "" "pathogenic" "" "0000168591" "1" "70" "11" "121461814" "121461814" "subst" "4.06157E-6" "01957" "SORL1_000128" "g.121461814G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 9; Disulfide bond" "Germline" "" "" "0" "" "" "g.121591105G>A" "" "likely pathogenic" "" "0000168592" "1" "50" "11" "121474958" "121474958" "subst" "0" "01957" "SORL1_000145" "g.121474958G>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A" "Germline" "" "" "0" "" "" "g.121604249G>T" "" "VUS" "" "0000168593" "1" "90" "11" "121475002" "121475008" "dup" "0" "01957" "SORL1_000147" "g.121475002_121475008dup" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 11; Disulfide bond" "Germline" "" "" "0" "" "" "g.121604293_121604299dup" "" "pathogenic" "" "0000168594" "1" "50" "11" "121478832" "121478832" "subst" "0.000170568" "01957" "SORL1_000161" "g.121478832G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 2" "Germline" "" "rs534646732" "0" "" "" "g.121608123G>A" "" "likely benign" "" "0000168595" "1" "70" "11" "121485607" "121485607" "subst" "8.1582E-6" "01957" "SORL1_000168" "g.121485607A>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 3" "Germline" "" "rs772677709" "0" "" "" "g.121614898A>G" "" "likely pathogenic" "" "0000168596" "1" "10" "11" "121485608" "121485608" "subst" "0.00259467" "01957" "SORL1_000169" "g.121485608T>C" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 3" "Germline" "" "rs150315143" "0" "" "" "g.121614899T>C" "" "benign" "" "0000168597" "1" "50" "11" "121485756" "121485756" "subst" "0.000120201" "01957" "SORL1_000170" "g.121485756C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 4" "Germline" "" "rs372366880" "0" "" "" "g.121615047C>T" "" "likely benign" "" "0000168598" "1" "10" "11" "121491764" "121491764" "dup" "0" "01957" "SORL1_000178" "g.121491764dup" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "" "0" "" "" "g.121621055dup" "" "benign" "" "0000168599" "1" "70" "11" "121491881" "121491881" "subst" "0" "01957" "SORL1_000180" "g.121491881G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 5" "Germline" "" "" "0" "" "" "g.121621172G>A" "" "likely pathogenic" "" "0000168600" "1" "10" "11" "121491904" "121491904" "subst" "0.0005241" "01957" "SORL1_000181" "g.121491904A>G" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 5" "Germline" "" "rs141089496" "0" "" "" "g.121621195A>G" "" "benign" "" "0000168601" "1" "30" "11" "121495911" "121495911" "subst" "0.00123115" "01957" "SORL1_000189" "g.121495911G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 6" "Germline" "" "rs74642146" "0" "" "" "g.121625202G>A" "" "likely benign" "" "0000168602" "1" "30" "11" "121498300" "121498300" "subst" "0.000316862" "01957" "SORL1_000191" "g.121498300C>T" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs142884576" "0" "" "" "g.121627591C>T" "" "likely benign" "" "0000168603" "1" "30" "11" "121498373" "121498373" "subst" "8.93713E-5" "01957" "SORL1_000193" "g.121498373G>A" "1/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "transmembrane" "Germline" "" "rs140007815" "0" "" "" "g.121627664G>A" "" "likely benign" "" "0000168604" "1" "30" "11" "121421361" "121421361" "subst" "0.000524493" "01957" "SORL1_000057" "g.121421361G>A" "2/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs146438170" "0" "" "" "g.121550652G>A" "" "likely benign" "" "0000168605" "1" "10" "11" "121425881" "121425881" "subst" "0.000415395" "01957" "SORL1_000065" "g.121425881C>T" "2/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs377106386" "0" "" "" "g.121555172C>T" "" "benign" "" "0000168606" "1" "30" "11" "121384931" "121384931" "subst" "0.00130369" "01957" "SORL1_000027" "g.121384931A>C" "3/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs150609294" "0" "" "" "g.121514222A>C" "" "likely benign" "" "0000168607" "1" "30" "11" "121415993" "121415993" "subst" "0.00053204" "01957" "SORL1_000046" "g.121415993T>A" "3/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs138438079" "0" "" "" "g.121545284T>A" "" "likely benign" "" "0000168608" "3" "10" "11" "121425955" "121425955" "subst" "0.0557393" "01957" "SORL1_000067" "g.121425955A>T" "3/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs78274293" "0" "" "" "g.121555246A>T" "" "benign" "" "0000168609" "1" "10" "11" "121489618" "121489618" "subst" "0.000483543" "01957" "SORL1_000174" "g.121489618C>T" "3/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs377174833" "0" "" "" "g.121618909C>T" "" "benign" "" "0000168610" "3" "30" "11" "121393684" "121393684" "subst" "0.0722131" "01957" "SORL1_000038" "g.121393684G>A" "4/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10; BNR 4" "Germline" "" "rs2298813" "0" "" "" "g.121522975G>A" "" "likely benign" "" "0000168611" "1" "10" "11" "121420826" "121420826" "subst" "7.08806E-5" "01957" "SORL1_000053" "g.121420826G>C" "5/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs201689464" "0" "" "" "g.121550117G>C" "" "benign" "" "0000168612" "1" "10" "11" "121444958" "121444958" "subst" "0.00523233" "01957" "SORL1_000091" "g.121444958A>G" "11/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 2" "Germline" "" "rs62617129" "0" "" "" "g.121574249A>G" "" "benign" "" "0000168613" "1" "30" "11" "121495816" "121495816" "subst" "0.0025844" "01957" "SORL1_000185" "g.121495816A>T" "12/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 6" "Germline" "" "rs140327834" "0" "" "" "g.121625107A>T" "" "likely benign" "" "0000168614" "1" "30" "11" "121440937" "121440937" "subst" "0.00803791" "01957" "SORL1_000086" "g.121440937T>C" "15/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 1; Disulfide bond" "Germline" "" "rs146903951" "0" "" "" "g.121570228T>C" "" "likely benign" "" "0000168615" "1" "10" "11" "121485599" "121485599" "subst" "0.00508206" "01957" "SORL1_000167" "g.121485599T>A" "15/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 3" "Germline" "" "rs62622819" "0" "" "" "g.121614890T>A" "" "benign" "" "0000168616" "1" "10" "11" "121460706" "121460706" "subst" "0.00607387" "01957" "SORL1_000121" "g.121460706C>G" "16/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs150253019" "0" "" "" "g.121589997C>G" "" "benign" "" "0000168617" "1" "50" "11" "121367627" "121367627" "subst" "0.0150711" "01957" "SORL1_000017" "g.121367627G>A" "17/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs117260922" "0" "" "" "g.121496918G>A" "" "likely benign" "" "0000168618" "1" "10" "11" "121457048" "121457048" "subst" "0.0178677" "01957" "SORL1_000109" "g.121457048T>G" "27/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs146197030" "0" "" "" "g.121586339T>G" "" "benign" "" "0000168619" "1" "30" "11" "121489563" "121489563" "subst" "0.0377086" "01957" "SORL1_000173" "g.121489563G>A" "29/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 4" "Germline" "" "rs17125548" "0" "" "" "g.121618854G>A" "" "likely benign" "" "0000168620" "1" "10" "11" "121426042" "121426042" "subst" "0.024218" "01957" "SORL1_000069" "g.121426042G>A" "32/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs6589885" "0" "" "" "g.121555333G>A" "" "benign" "" "0000168621" "1" "30" "11" "121460846" "121460846" "subst" "0.0311678" "01957" "SORL1_000125" "g.121460846C>T" "32/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 8; Disulfide bond" "Germline" "" "rs2276412" "0" "" "" "g.121590137C>T" "" "likely benign" "" "0000168622" "3" "10" "11" "121448090" "121448090" "subst" "0.320775" "01957" "SORL1_000098" "g.121448090T>G" "34/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "rs2070045" "0" "" "" "g.121577381T>G" "" "benign" "" "0000168623" "1" "30" "11" "121393684" "121393684" "subst" "0.0722131" "01957" "SORL1_000038" "g.121393684G>A" "44/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10; BNR 4" "Germline" "" "rs2298813" "0" "" "" "g.121522975G>A" "" "likely benign" "" "0000168624" "3" "30" "11" "121475922" "121475922" "subst" "0.389692" "01957" "SORL1_000151" "g.121475922T>A" "57/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 1" "Germline" "" "rs3824968" "0" "" "" "g.121605213T>A" "" "likely benign" "" "0000168625" "1" "10" "11" "121425955" "121425955" "subst" "0.0557393" "01957" "SORL1_000067" "g.121425955A>T" "83/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class B 1" "Germline" "" "rs78274293" "0" "" "" "g.121555246A>T" "" "benign" "" "0000168626" "1" "10" "11" "121454149" "121454149" "subst" "0.0802539" "01957" "SORL1_000100" "g.121454149C>G" "86/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "" "Germline" "" "rs73595277" "0" "" "" "g.121583440C>G" "" "benign" "" "0000168627" "3" "10" "11" "121367626" "121367626" "subst" "0.489331" "01957" "SORL1_000016" "g.121367626T>C" "155/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs12364988" "0" "" "" "g.121496917T>C" "" "benign" "" "0000168628" "1" "10" "11" "121448090" "121448090" "subst" "0.320775" "01957" "SORL1_000098" "g.121448090T>G" "227/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 3; Disulfide bond" "Germline" "" "rs2070045" "0" "" "" "g.121577381T>G" "" "benign" "" "0000168629" "1" "30" "11" "121475922" "121475922" "subst" "0.389692" "01957" "SORL1_000151" "g.121475922T>A" "267/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "Fibronectin type-III 1" "Germline" "" "rs3824968" "0" "" "" "g.121605213T>A" "" "likely benign" "" "0000168630" "1" "30" "11" "121456962" "121456962" "subst" "0.528432" "01957" "SORL1_000105" "g.121456962C>T" "274/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs1699102" "0" "" "" "g.121586253C>T" "" "likely benign" "" "0000168631" "1" "10" "11" "121367626" "121367626" "subst" "0.489331" "01957" "SORL1_000016" "g.121367626T>C" "318/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "VPS10" "Germline" "" "rs12364988" "0" "" "" "g.121496917T>C" "" "benign" "" "0000168632" "3" "30" "11" "121456962" "121456962" "subst" "0.528432" "01957" "SORL1_000105" "g.121456962C>T" "343/640 cases" "{DOI:Holstege 2017:10.1038/ejhg.2017.87}" "" "" "LDL-receptor class A 5; Disulfide bond" "Germline" "" "rs1699102" "0" "" "" "g.121586253C>T" "" "likely benign" "" "0000249906" "0" "10" "11" "121425955" "121425955" "subst" "0.0557393" "02329" "SORL1_000067" "g.121425955A>T" "" "" "" "SORL1(NM_003105.5):c.2499A>T (p.T833=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121555246A>T" "" "benign" "" "0000250346" "0" "10" "11" "121444958" "121444958" "subst" "0.00523233" "02329" "SORL1_000091" "g.121444958A>G" "" "" "" "SORL1(NM_003105.5):c.3346A>G (p.I1116V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121574249A>G" "" "benign" "" "0000250362" "0" "30" "11" "121414366" "121414366" "subst" "0" "02329" "SORL1_000205" "g.121414366A>G" "" "" "" "SORL1(NM_003105.5):c.1795A>G (p.I599V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121543657A>G" "" "likely benign" "" "0000250367" "0" "30" "11" "121459988" "121459988" "subst" "8.1217E-6" "02329" "SORL1_000231" "g.121459988A>G" "" "" "" "SORL1(NM_003105.5):c.3967A>G (p.K1323E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121589279A>G" "" "likely benign" "" "0000253130" "0" "10" "11" "121425955" "121425955" "subst" "0.0557393" "01943" "SORL1_000067" "g.121425955A>T" "" "" "" "SORL1(NM_003105.5):c.2499A>T (p.T833=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121555246A>T" "" "benign" "" "0000254234" "0" "30" "11" "121491904" "121491904" "subst" "0.0005241" "01943" "SORL1_000181" "g.121491904A>G" "" "" "" "SORL1(NM_003105.5):c.6021A>G (p.Q2007=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121621195A>G" "" "likely benign" "" "0000256389" "0" "50" "11" "121384931" "121384931" "subst" "0.00130369" "01943" "SORL1_000027" "g.121384931A>C" "" "" "" "SORL1(NM_003105.5):c.1112A>C (p.N371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121514222A>C" "" "VUS" "" "0000256419" "0" "50" "11" "121447999" "121447999" "subst" "4.84714E-5" "01943" "SORL1_000212" "g.121447999A>G" "" "" "" "SORL1(NM_003105.5):c.3470A>G (p.Q1157R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121577290A>G" "" "VUS" "" "0000256666" "0" "50" "11" "121384991" "121384991" "subst" "2.84389E-5" "01943" "SORL1_000028" "g.121384991A>G" "" "" "" "SORL1(NM_003105.5):c.1172A>G (p.Y391C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121514282A>G" "" "VUS" "" "0000299627" "0" "30" "11" "121393328" "121393328" "subst" "1.21843E-5" "02329" "SORL1_000034" "g.121393328C>T" "" "" "" "SORL1(NM_003105.5):c.1438C>T (p.R480C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121522619C>T" "" "likely benign" "" "0000299628" "0" "10" "11" "121393684" "121393684" "subst" "0.0722131" "02329" "SORL1_000038" "g.121393684G>A" "" "" "" "SORL1(NM_003105.5):c.1582G>A (p.A528T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121522975G>A" "" "benign" "" "0000299629" "0" "10" "11" "121403229" "121403229" "subst" "0.996425" "02329" "SORL1_000204" "g.121403229T>C" "" "" "" "SORL1(NM_003105.5):c.1653T>C (p.A551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121532520=" "" "benign" "" "0000299630" "0" "30" "11" "121415993" "121415993" "subst" "0.00053204" "02329" "SORL1_000046" "g.121415993T>A" "" "" "" "SORL1(NM_003105.5):c.1906T>A (p.S636T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121545284T>A" "" "likely benign" "" "0000299631" "0" "10" "11" "121323277" "121323277" "subst" "0.0134971" "02329" "SORL1_000198" "g.121323277G>A" "" "" "" "SORL1(NM_003105.5):c.237G>A (p.R79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121452568G>A" "" "benign" "" "0000299632" "0" "10" "11" "121426042" "121426042" "subst" "0.024218" "02329" "SORL1_000069" "g.121426042G>A" "" "" "" "SORL1(NM_003105.5):c.2571+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121555333G>A" "" "benign" "" "0000299633" "0" "90" "11" "121428047" "121428047" "subst" "8.12295E-6" "02329" "SORL1_000207" "g.121428047C>T" "" "" "" "SORL1(NM_003105.5):c.2596C>T (p.R866*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121557338C>T" "" "pathogenic" "" "0000299634" "0" "30" "11" "121437639" "121437639" "subst" "4.14518E-5" "02329" "SORL1_000208" "g.121437639T>C" "" "" "" "SORL1(NM_003105.5):c.3050-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121566930T>C" "" "likely benign" "" "0000299635" "0" "10" "11" "121437819" "121437819" "subst" "0.996113" "02329" "SORL1_000081" "g.121437819C>G" "" "" "" "SORL1(NM_003105.5):c.3220C>G (p.Q1074E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121567110C>G" "" "benign" "" "0000299636" "0" "30" "11" "121440903" "121440903" "subst" "0.0020686" "02329" "SORL1_000209" "g.121440903C>T" "" "" "" "SORL1(NM_003105.5):c.3261C>T (p.N1087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121570194C>T" "" "likely benign" "" "0000299637" "0" "10" "11" "121440937" "121440937" "subst" "0.00803791" "02329" "SORL1_000086" "g.121440937T>C" "" "" "" "SORL1(NM_003105.5):c.3295T>C (p.F1099L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121570228T>C" "" "benign" "" "0000299638" "0" "30" "11" "121440962" "121440962" "subst" "0" "02329" "SORL1_000210" "g.121440962G>A" "" "" "" "SORL1(NM_003105.5):c.3320G>A (p.S1107N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121570253G>A" "" "likely benign" "" "0000299639" "0" "30" "11" "121440989" "121440989" "subst" "0" "02329" "SORL1_000090" "g.121440989C>T" "" "" "" "SORL1(NM_003105.5):c.3337+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121570280C>T" "" "likely benign" "" "0000299640" "0" "30" "11" "121445003" "121445003" "subst" "0" "02329" "SORL1_000211" "g.121445003T>A" "" "" "" "SORL1(NM_003105.5):c.3391T>A (p.C1131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121574294T>A" "" "likely benign" "" "0000299641" "0" "10" "11" "121445084" "121445084" "subst" "0.996135" "02329" "SORL1_000092" "g.121445084T>C" "" "" "" "SORL1(NM_003105.5):c.3460+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121574375T>C" "" "benign" "" "0000299642" "0" "10" "11" "121454149" "121454149" "subst" "0.0802539" "02329" "SORL1_000100" "g.121454149C>G" "" "" "" "SORL1(NM_003105.5):c.3581-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121583440C>G" "" "benign" "" "0000299643" "0" "30" "11" "121456920" "121456920" "subst" "9.34132E-5" "02329" "SORL1_000104" "g.121456920T>C" "" "" "" "SORL1(NM_003105.5):c.3707-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121586211T>C" "" "likely benign" "" "0000299644" "0" "10" "11" "121456962" "121456962" "subst" "0.528432" "02329" "SORL1_000105" "g.121456962C>T" "" "" "" "SORL1(NM_003105.5):c.3738C>T (p.N1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121586253C>T" "" "benign" "" "0000299645" "0" "30" "11" "121456996" "121456996" "subst" "2.84322E-5" "02329" "SORL1_000107" "g.121456996G>A" "" "" "" "SORL1(NM_003105.5):c.3772G>A (p.G1258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121586287G>A" "" "likely benign" "" "0000299646" "0" "10" "11" "121457048" "121457048" "subst" "0.0178677" "02329" "SORL1_000109" "g.121457048T>G" "" "" "" "SORL1(NM_003105.5):c.3814+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121586339T>G" "" "benign" "" "0000299647" "0" "30" "11" "121460014" "121460014" "subst" "0" "02329" "SORL1_000216" "g.121460014G>C" "" "" "" "SORL1(NM_003105.5):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121589305G>C" "" "likely benign" "" "0000299648" "0" "30" "11" "121461843" "121461843" "subst" "0.000247788" "02329" "SORL1_000218" "g.121461843C>T" "" "" "" "SORL1(NM_003105.5):c.4347C>T (p.D1449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121591134C>T" "" "likely benign" "" "0000299649" "0" "30" "11" "121466411" "121466411" "subst" "4.0702E-6" "02329" "SORL1_000138" "g.121466411G>T" "" "" "" "SORL1(NM_003105.5):c.4449G>T (p.T1483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121595702G>T" "" "likely benign" "" "0000299650" "0" "10" "11" "121475922" "121475922" "subst" "0.389692" "02329" "SORL1_000151" "g.121475922T>A" "" "" "" "SORL1(NM_003105.5):c.4752T>A (p.A1584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121605213T>A" "" "benign" "" "0000299651" "0" "30" "11" "121476103" "121476103" "subst" "4.15303E-5" "02329" "SORL1_000221" "g.121476103T>G" "" "" "" "SORL1(NM_003105.5):c.4779-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121605394T>G" "" "likely benign" "" "0000299652" "0" "30" "11" "121477611" "121477611" "subst" "0" "02329" "SORL1_000222" "g.121477611T>C" "" "" "" "SORL1(NM_003105.5):c.5006T>C (p.I1669T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121606902T>C" "" "likely benign" "" "0000299653" "0" "30" "11" "121477628" "121477628" "subst" "6.90344E-5" "02329" "SORL1_000156" "g.121477628C>T" "" "" "" "SORL1(NM_003105.5):c.5023C>T (p.P1675S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121606919C>T" "" "likely benign" "" "0000299654" "0" "30" "11" "121483518" "121483518" "subst" "3.65675E-5" "02329" "SORL1_000223" "g.121483518G>A" "" "" "" "SORL1(NM_003105.5):c.5396G>A (p.R1799Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121612809G>A" "" "likely benign" "" "0000299655" "0" "30" "11" "121485608" "121485608" "subst" "0.00259467" "02329" "SORL1_000169" "g.121485608T>C" "" "" "" "SORL1(NM_003105.5):c.5448T>C (p.Y1816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121614899T>C" "" "likely benign" "" "0000299656" "0" "10" "11" "121489563" "121489563" "subst" "0.0377086" "02329" "SORL1_000173" "g.121489563G>A" "" "" "" "SORL1(NM_003105.5):c.5685G>A (p.K1895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121618854G>A" "" "benign" "" "0000299657" "0" "30" "11" "121489619" "121489619" "subst" "9.75412E-5" "02329" "SORL1_000228" "g.121489619G>A" "" "" "" "SORL1(NM_003105.5):c.5724+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121618910G>A" "" "likely benign" "" "0000299658" "0" "10" "11" "121491782" "121491782" "subst" "0.996169" "02329" "SORL1_000179" "g.121491782G>A" "" "" "" "SORL1(NM_003105.5):c.5899G>A (p.V1967I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121621073G>A" "" "benign" "" "0000299659" "0" "30" "11" "121495904" "121495904" "subst" "0.00227952" "02329" "SORL1_000230" "g.121495904G>A" "" "" "" "SORL1(NM_003105.5):c.6282G>A (p.T2094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121625195G>A" "" "likely benign" "" "0000299660" "0" "30" "11" "121495940" "121495940" "subst" "0.00115859" "02329" "SORL1_000190" "g.121495940G>A" "" "" "" "SORL1(NM_003105.5):c.6318G>A (p.Q2106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121625231G>A" "" "likely benign" "" "0000299661" "0" "30" "11" "121367569" "121367570" "del" "0" "02329" "SORL1_000201" "g.121367569_121367570del" "" "" "" "SORL1(NM_003105.5):c.759-9_759-8delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496860_121496861del" "" "likely benign" "" "0000299662" "0" "10" "11" "121367570" "121367570" "del" "0" "02329" "SORL1_000200" "g.121367570del" "" "" "" "SORL1(NM_003105.5):c.759-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496861del" "" "benign" "" "0000299664" "0" "10" "11" "121367626" "121367626" "subst" "0.489331" "02329" "SORL1_000016" "g.121367626T>C" "" "" "" "SORL1(NM_003105.5):c.807T>C (p.H269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496917T>C" "" "benign" "" "0000299665" "0" "10" "11" "121367627" "121367627" "subst" "0.0150711" "02329" "SORL1_000017" "g.121367627G>A" "" "" "" "SORL1(NM_003105.5):c.808G>A (p.E270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496918G>A" "" "benign" "" "0000308690" "0" "10" "11" "121393684" "121393684" "subst" "0.0722131" "01943" "SORL1_000038" "g.121393684G>A" "" "" "" "SORL1(NM_003105.5):c.1582G>A (p.A528T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121522975G>A" "" "benign" "" "0000308691" "0" "10" "11" "121403229" "121403229" "subst" "0.996425" "01943" "SORL1_000204" "g.121403229T>C" "" "" "" "SORL1(NM_003105.5):c.1653T>C (p.A551=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121532520=" "" "benign" "" "0000308692" "0" "30" "11" "121403254" "121403254" "subst" "0.000166709" "01943" "SORL1_000041" "g.121403254G>A" "" "" "" "SORL1(NM_003105.5):c.1678G>A (p.E560K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121532545G>A" "" "likely benign" "" "0000308693" "0" "50" "11" "121416002" "121416002" "subst" "4.87397E-5" "01943" "SORL1_000206" "g.121416002C>T" "" "" "" "SORL1(NM_003105.5):c.1915C>T (p.R639W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121545293C>T" "" "VUS" "" "0000308694" "0" "30" "11" "121323241" "121323241" "subst" "6.23584E-5" "01943" "SORL1_000197" "g.121323241G>C" "" "" "" "SORL1(NM_003105.5):c.201G>C (p.R67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121452532G>C" "" "likely benign" "" "0000308695" "0" "30" "11" "121323277" "121323277" "subst" "0.0134971" "01943" "SORL1_000198" "g.121323277G>A" "" "" "" "SORL1(NM_003105.5):c.237G>A (p.R79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121452568G>A" "" "likely benign" "" "0000308696" "0" "10" "11" "121437819" "121437819" "subst" "0.996113" "01943" "SORL1_000081" "g.121437819C>G" "" "" "" "SORL1(NM_003105.5):c.3220C>G (p.Q1074E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121567110C>G" "" "benign" "" "0000308697" "0" "30" "11" "121440937" "121440937" "subst" "0.00803791" "01943" "SORL1_000086" "g.121440937T>C" "" "" "" "SORL1(NM_003105.5):c.3295T>C (p.F1099L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121570228T>C" "" "likely benign" "" "0000308698" "0" "10" "11" "121445084" "121445084" "subst" "0.996135" "01943" "SORL1_000092" "g.121445084T>C" "" "" "" "SORL1(NM_003105.5):c.3460+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121574375T>C" "" "benign" "" "0000308699" "0" "10" "11" "121454149" "121454149" "subst" "0.0802539" "01943" "SORL1_000100" "g.121454149C>G" "" "" "" "SORL1(NM_003105.5):c.3581-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121583440C>G" "" "benign" "" "0000308700" "0" "50" "11" "121454186" "121454186" "subst" "5.3155E-5" "01943" "SORL1_000213" "g.121454186G>C" "" "" "" "SORL1(NM_003105.5):c.3600G>C (p.E1200D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121583477G>C" "" "VUS" "" "0000308701" "0" "10" "11" "121456962" "121456962" "subst" "0.528432" "01943" "SORL1_000105" "g.121456962C>T" "" "" "" "SORL1(NM_003105.5):c.3738C>T (p.N1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121586253C>T" "" "benign" "" "0000308702" "0" "10" "11" "121457048" "121457048" "subst" "0.0178677" "01943" "SORL1_000109" "g.121457048T>G" "" "" "" "SORL1(NM_003105.5):c.3814+10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121586339T>G" "" "benign" "" "0000308703" "0" "50" "11" "121458843" "121458843" "subst" "0.000451022" "01943" "SORL1_000116" "g.121458843C>T" "" "" "" "SORL1(NM_003105.5):c.3929C>T (p.A1310V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121588134C>T" "" "VUS" "" "0000308704" "0" "50" "11" "121458849" "121458849" "subst" "0" "01943" "SORL1_000215" "g.121458849T>C" "" "" "" "SORL1(NM_003105.5):c.3935T>C (p.F1312S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121588140T>C" "" "VUS" "" "0000308705" "0" "50" "11" "121348842" "121348842" "subst" "0.000345209" "01943" "SORL1_000011" "g.121348842G>A" "" "" "" "SORL1(NM_003105.5):c.418G>A (p.D140N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121478133G>A" "" "VUS" "" "0000308706" "0" "10" "11" "121461593" "121461593" "subst" "0" "01943" "SORL1_000217" "g.121461593G>C" "" "" "" "SORL1(NM_003105.5):c.4214-117G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121590884G>C" "" "benign" "" "0000308707" "0" "50" "11" "121461870" "121461870" "subst" "0" "01943" "SORL1_000219" "g.121461870G>A" "" "" "" "SORL1(NM_003105.5):c.4369+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121591161G>A" "" "VUS" "" "0000308708" "0" "10" "11" "121475922" "121475922" "subst" "0.389692" "01943" "SORL1_000151" "g.121475922T>A" "" "" "" "SORL1(NM_003105.5):c.4752T>A (p.A1584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121605213T>A" "" "benign" "" "0000308709" "0" "10" "11" "121485608" "121485608" "subst" "0.00259467" "01943" "SORL1_000169" "g.121485608T>C" "" "" "" "SORL1(NM_003105.5):c.5448T>C (p.Y1816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121614899T>C" "" "benign" "" "0000308710" "0" "50" "11" "121485639" "121485639" "subst" "0" "01943" "SORL1_000224" "g.121485639G>T" "" "" "" "SORL1(NM_003105.5):c.5479G>T (p.G1827W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121614930G>T" "" "VUS" "" "0000308711" "0" "50" "11" "121485739" "121485739" "subst" "0" "01943" "SORL1_000225" "g.121485739G>A" "" "" "" "SORL1(NM_003105.5):c.5579G>A (p.C1860Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121615030G>A" "" "VUS" "" "0000308712" "0" "50" "11" "121489525" "121489525" "subst" "8.52854E-5" "01943" "SORL1_000226" "g.121489525C>T" "" "" "" "SORL1(NM_003105.5):c.5647C>T (p.R1883C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121618816C>T" "" "VUS" "" "0000308713" "0" "10" "11" "121489563" "121489563" "subst" "0.0377086" "01943" "SORL1_000173" "g.121489563G>A" "" "" "" "SORL1(NM_003105.5):c.5685G>A (p.K1895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121618854G>A" "" "benign" "" "0000308714" "0" "10" "11" "121491782" "121491782" "subst" "0.996169" "01943" "SORL1_000179" "g.121491782G>A" "" "" "" "SORL1(NM_003105.5):c.5899G>A (p.V1967I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121621073G>A" "" "benign" "" "0000308715" "0" "30" "11" "121492985" "121492985" "subst" "4.99151E-5" "01943" "SORL1_000229" "g.121492985C>T" "" "" "" "SORL1(NM_003105.5):c.6171+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121622276C>T" "" "likely benign" "" "0000308716" "0" "30" "11" "121495940" "121495940" "subst" "0.00115859" "01943" "SORL1_000190" "g.121495940G>A" "" "" "" "SORL1(NM_003105.5):c.6318G>A (p.Q2106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121625231G>A" "" "likely benign" "" "0000308717" "0" "30" "11" "121498300" "121498300" "subst" "0.000316862" "01943" "SORL1_000191" "g.121498300C>T" "" "" "" "SORL1(NM_003105.5):c.6401C>T (p.T2134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121627591C>T" "" "likely benign" "" "0000308718" "0" "30" "11" "121367571" "121367571" "subst" "0" "01943" "SORL1_000202" "g.121367571C>T" "" "" "" "SORL1(NM_003105.5):c.759-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496862C>T" "" "likely benign" "" "0000308719" "0" "10" "11" "121367626" "121367626" "subst" "0.489331" "01943" "SORL1_000016" "g.121367626T>C" "" "" "" "SORL1(NM_003105.5):c.807T>C (p.H269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496917T>C" "" "benign" "" "0000308720" "0" "10" "11" "121367627" "121367627" "subst" "0.0150711" "01943" "SORL1_000017" "g.121367627G>A" "" "" "" "SORL1(NM_003105.5):c.808G>A (p.E270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.121496918G>A" "" "benign" "" "0000542762" "0" "30" "11" "121323056" "121323056" "subst" "0" "02329" "SORL1_000232" "g.121323056A>T" "" "" "" "SORL1(NM_003105.5):c.16A>T (p.S6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121452347A>T" "" "likely benign" "" "0000542763" "0" "50" "11" "121348939" "121348939" "subst" "9.35111E-5" "01943" "SORL1_000233" "g.121348939C>T" "" "" "" "SORL1(NM_003105.5):c.515C>T (p.A172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121478230C>T" "" "VUS" "" "0000542764" "0" "30" "11" "121348939" "121348939" "subst" "9.35111E-5" "02329" "SORL1_000233" "g.121348939C>T" "" "" "" "SORL1(NM_003105.5):c.515C>T (p.A172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121478230C>T" "" "likely benign" "" "0000542765" "0" "10" "11" "121367570" "121367570" "dup" "0" "02329" "SORL1_000234" "g.121367570dup" "" "" "" "SORL1(NM_003105.5):c.759-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496861dup" "" "benign" "" "0000542767" "0" "30" "11" "121367573" "121367573" "subst" "0" "01943" "SORL1_000235" "g.121367573G>T" "" "" "" "SORL1(NM_003105.5):c.759-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496864G>T" "" "likely benign" "" "0000542769" "0" "70" "11" "121367654" "121367654" "subst" "8.12394E-6" "01943" "SORL1_000236" "g.121367654C>T" "" "" "" "SORL1(NM_003105.5):c.835C>T (p.R279*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496945C>T" "" "likely pathogenic" "" "0000542770" "0" "30" "11" "121384918" "121384918" "subst" "4.06164E-6" "02329" "SORL1_000237" "g.121384918A>G" "" "" "" "SORL1(NM_003105.5):c.1099A>G (p.N367D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121514209A>G" "" "likely benign" "" "0000542771" "0" "30" "11" "121384931" "121384931" "subst" "0.00130369" "02329" "SORL1_000027" "g.121384931A>C" "" "" "" "SORL1(NM_003105.5):c.1112A>C (p.N371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121514222A>C" "" "likely benign" "" "0000542772" "0" "50" "11" "121391382" "121391383" "ins" "0" "02329" "SORL1_000238" "g.121391382_121391383insAAATGCAAATGAAGTCAG" "" "" "" "SORL1(NM_003105.5):c.1228_1229insAAATGCAAATGAAGTCAG (p.P410delins7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121520673_121520674insAAATGCAAATGAAGTCAG" "" "VUS" "" "0000542773" "0" "30" "11" "121414300" "121414300" "subst" "3.25177E-5" "02329" "SORL1_000043" "g.121414300T>C" "" "" "" "SORL1(NM_003105.5):c.1729T>C (p.S577P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121543591T>C" "" "likely benign" "" "0000542774" "0" "30" "11" "121414320" "121414320" "subst" "0.000455233" "02329" "SORL1_000045" "g.121414320G>A" "" "" "" "SORL1(NM_003105.5):c.1749G>A (p.V583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121543611G>A" "" "likely benign" "" "0000542775" "0" "50" "11" "121415958" "121415958" "subst" "6.50285E-5" "02329" "SORL1_000239" "g.121415958C>T" "" "" "" "SORL1(NM_003105.5):c.1871C>T (p.P624L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121545249C>T" "" "VUS" "" "0000542776" "0" "30" "11" "121415977" "121415977" "subst" "0.00188466" "02329" "SORL1_000240" "g.121415977C>T" "" "" "" "SORL1(NM_003105.5):c.1890C>T (p.Y630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121545268C>T" "" "likely benign" "" "0000542777" "0" "50" "11" "121416003" "121416003" "subst" "9.74809E-5" "02329" "SORL1_000241" "g.121416003G>T" "" "" "" "SORL1(NM_003105.5):c.1916G>T (p.R639L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121545294G>T" "" "VUS" "" "0000542778" "0" "30" "11" "121420669" "121420669" "subst" "0.000178839" "02329" "SORL1_000242" "g.121420669T>C" "" "" "" "SORL1(NM_003105.5):c.2052T>C (p.C684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121549960T>C" "" "likely benign" "" "0000542779" "0" "30" "11" "121420750" "121420750" "subst" "0.00135264" "02329" "SORL1_000243" "g.121420750C>T" "" "" "" "SORL1(NM_003105.5):c.2133C>T (p.S711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121550041C>T" "" "likely benign" "" "0000542780" "0" "30" "11" "121420809" "121420809" "subst" "0" "02329" "SORL1_000244" "g.121420809A>G" "" "" "" "SORL1(NM_003105.5):c.2180+12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121550100A>G" "" "likely benign" "" "0000542781" "0" "50" "11" "121421299" "121421299" "subst" "2.84414E-5" "02329" "SORL1_000054" "g.121421299G>A" "" "" "" "SORL1(NM_003105.5):c.2186G>A (p.(Arg729Gln), p.R729Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121550590G>A" "" "VUS" "" "0000542782" "0" "30" "11" "121421341" "121421341" "subst" "5.69009E-5" "02329" "SORL1_000056" "g.121421341C>T" "" "" "" "SORL1(NM_003105.5):c.2228C>T (p.A743V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121550632C>T" "" "likely benign" "" "0000542783" "0" "30" "11" "121429355" "121429355" "subst" "4.06131E-6" "02329" "SORL1_000245" "g.121429355A>G" "" "" "" "SORL1(NM_003105.5):c.2719A>G (p.M907V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121558646A>G" "" "likely benign" "" "0000542784" "0" "90" "11" "121429519" "121429522" "del" "0" "02329" "SORL1_000246" "g.121429519_121429522del" "" "" "" "SORL1(NM_003105.5):c.2883_2886delGCAC (p.H962Pfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121558810_121558813del" "" "pathogenic" "" "0000542785" "0" "50" "11" "121429534" "121429534" "subst" "0" "01943" "SORL1_000247" "g.121429534T>G" "" "" "" "SORL1(NM_003105.5):c.2898T>G (p.I966M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121558825T>G" "" "VUS" "" "0000542786" "0" "50" "11" "121444981" "121444981" "subst" "2.03095E-5" "01943" "SORL1_000248" "g.121444981T>A" "" "" "" "SORL1(NM_003105.5):c.3369T>A (p.F1123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121574272T>A" "" "VUS" "" "0000542787" "0" "30" "11" "121444981" "121444981" "subst" "2.03095E-5" "02329" "SORL1_000248" "g.121444981T>A" "" "" "" "SORL1(NM_003105.5):c.3369T>A (p.F1123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121574272T>A" "" "likely benign" "" "0000542788" "0" "50" "11" "121444982" "121444982" "subst" "2.031E-5" "01943" "SORL1_000249" "g.121444982C>A" "" "" "" "SORL1(NM_003105.5):c.3370C>A (p.R1124S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121574273C>A" "" "VUS" "" "0000542789" "0" "30" "11" "121444982" "121444982" "subst" "2.031E-5" "02329" "SORL1_000249" "g.121444982C>A" "" "" "" "SORL1(NM_003105.5):c.3370C>A (p.R1124S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121574273C>A" "" "likely benign" "" "0000542790" "0" "30" "11" "121448030" "121448030" "subst" "0.000236855" "02329" "SORL1_000095" "g.121448030C>G" "" "" "" "SORL1(NM_003105.5):c.3501C>G (p.S1167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121577321C>G" "" "likely benign" "" "0000542791" "0" "10" "11" "121448090" "121448090" "subst" "0.320775" "01943" "SORL1_000098" "g.121448090T>G" "" "" "" "SORL1(NM_003105.5):c.3561T>G (p.S1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121577381T>G" "" "benign" "" "0000542792" "0" "10" "11" "121448090" "121448090" "subst" "0.320775" "02329" "SORL1_000098" "g.121448090T>G" "" "" "" "SORL1(NM_003105.5):c.3561T>G (p.S1187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121577381T>G" "" "benign" "" "0000542793" "0" "50" "11" "121454187" "121454187" "subst" "5.31689E-5" "01943" "SORL1_000250" "g.121454187G>T" "" "" "" "SORL1(NM_003105.5):c.3601G>T (p.A1201S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121583478G>T" "" "VUS" "" "0000542794" "0" "30" "11" "121454251" "121454251" "subst" "2.86808E-5" "02329" "SORL1_000102" "g.121454251C>T" "" "" "" "SORL1(NM_003105.5):c.3665C>T (p.T1222M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121583542C>T" "" "likely benign" "" "0000542795" "0" "50" "11" "121456996" "121456996" "subst" "2.84322E-5" "01943" "SORL1_000107" "g.121456996G>A" "" "" "" "SORL1(NM_003105.5):c.3772G>A (p.G1258S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121586287G>A" "" "VUS" "" "0000542796" "0" "10" "11" "121460846" "121460846" "subst" "0.0311678" "02329" "SORL1_000125" "g.121460846C>T" "" "" "" "SORL1(NM_003105.5):c.4176C>T (p.N1392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121590137C>T" "" "benign" "" "0000542797" "0" "50" "11" "121461767" "121461767" "subst" "0" "02329" "SORL1_000251" "g.121461767A>G" "" "" "" "SORL1(NM_003105.5):c.4271A>G (p.Y1424C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121591058A>G" "" "VUS" "" "0000542798" "0" "30" "11" "121466337" "121466337" "subst" "0.00035988" "01943" "SORL1_000252" "g.121466337G>A" "" "" "" "SORL1(NM_003105.5):c.4375G>A (p.V1459I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121595628G>A" "" "likely benign" "" "0000542799" "0" "30" "11" "121466405" "121466405" "subst" "0.00193835" "02329" "SORL1_000253" "g.121466405G>A" "" "" "" "SORL1(NM_003105.5):c.4443G>A (p.P1481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121595696G>A" "" "likely benign" "" "0000542800" "0" "30" "11" "121466431" "121466431" "subst" "1.62782E-5" "02329" "SORL1_000140" "g.121466431G>A" "" "" "" "SORL1(NM_003105.5):c.4469G>A (p.R1490H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121595722G>A" "" "likely benign" "" "0000542801" "0" "30" "11" "121475043" "121475043" "subst" "0.00300247" "02329" "SORL1_000254" "g.121475043G>A" "" "" "" "SORL1(NM_003105.5):c.4651+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121604334G>A" "" "likely benign" "" "0000542802" "0" "50" "11" "121475837" "121475837" "subst" "0" "02329" "SORL1_000255" "g.121475837A>G" "" "" "" "SORL1(NM_003105.5):c.4667A>G (p.Y1556C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121605128A>G" "" "VUS" "" "0000542803" "0" "50" "11" "121477553" "121477553" "subst" "0" "02329" "SORL1_000256" "g.121477553G>A" "" "" "" "SORL1(NM_003105.5):c.4949-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121606844G>A" "" "VUS" "" "0000542804" "0" "30" "11" "121485586" "121485586" "subst" "0.000651324" "02329" "SORL1_000165" "g.121485586A>G" "" "" "" "SORL1(NM_003105.5):c.5426A>G (p.N1809S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121614877A>G" "" "likely benign" "" "0000542805" "0" "30" "11" "121485599" "121485599" "subst" "0.00508206" "01943" "SORL1_000167" "g.121485599T>A" "" "" "" "SORL1(NM_003105.5):c.5439T>A (p.H1813Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121614890T>A" "" "likely benign" "" "0000542806" "0" "10" "11" "121485599" "121485599" "subst" "0.00508206" "02329" "SORL1_000167" "g.121485599T>A" "" "" "" "SORL1(NM_003105.5):c.5439T>A (p.H1813Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121614890T>A" "" "benign" "" "0000542807" "0" "30" "11" "121495816" "121495816" "subst" "0.0025844" "01943" "SORL1_000185" "g.121495816A>T" "" "" "" "SORL1(NM_003105.5):c.6194A>T (p.D2065V), SORL1(NM_003105.6):c.6194A>T (p.D2065V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121625107A>T" "" "likely benign" "" "0000542808" "0" "10" "11" "121495816" "121495816" "subst" "0.0025844" "02329" "SORL1_000185" "g.121495816A>T" "" "" "" "SORL1(NM_003105.5):c.6194A>T (p.D2065V), SORL1(NM_003105.6):c.6194A>T (p.D2065V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121625107A>T" "" "benign" "" "0000542809" "0" "30" "11" "121495970" "121495970" "subst" "4.09055E-5" "02329" "SORL1_000257" "g.121495970C>T" "" "" "" "SORL1(NM_003105.5):c.6348C>T (p.Y2116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121625261C>T" "" "likely benign" "" "0000613115" "0" "30" "11" "121323241" "121323241" "subst" "5.19653E-5" "02329" "SORL1_000258" "g.121323241G>A" "" "" "" "SORL1(NM_003105.5):c.201G>A (p.R67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121452532G>A" "" "likely benign" "" "0000613116" "0" "30" "11" "121367573" "121367573" "subst" "0" "02329" "SORL1_000235" "g.121367573G>T" "" "" "" "SORL1(NM_003105.5):c.759-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496864G>T" "" "likely benign" "" "0000613117" "0" "50" "11" "121425897" "121425897" "subst" "0" "02325" "SORL1_000260" "g.121425897G>A" "" "" "" "SORL1(NM_003105.5):c.2441G>A (p.R814H), SORL1(NM_003105.6):c.2441G>A (p.R814H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121555188G>A" "" "VUS" "" "0000613118" "0" "50" "11" "121425897" "121425897" "subst" "0" "02329" "SORL1_000260" "g.121425897G>A" "" "" "" "SORL1(NM_003105.5):c.2441G>A (p.R814H), SORL1(NM_003105.6):c.2441G>A (p.R814H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121555188G>A" "" "VUS" "" "0000613119" "0" "30" "11" "121454173" "121454173" "subst" "1.64375E-5" "02329" "SORL1_000263" "g.121454173A>G" "" "" "" "SORL1(NM_003105.5):c.3587A>G (p.Y1196C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121583464A>G" "" "likely benign" "" "0000613120" "0" "30" "11" "121454206" "121454206" "subst" "0.00101999" "02329" "SORL1_000101" "g.121454206G>A" "" "" "" "SORL1(NM_003105.5):c.3620G>A (p.R1207Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121583497G>A" "" "likely benign" "" "0000613121" "0" "30" "11" "121466337" "121466337" "subst" "0.00035988" "02329" "SORL1_000252" "g.121466337G>A" "" "" "" "SORL1(NM_003105.5):c.4375G>A (p.V1459I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121595628G>A" "" "likely benign" "" "0000613122" "0" "30" "11" "121477628" "121477628" "subst" "6.90344E-5" "01943" "SORL1_000156" "g.121477628C>T" "" "" "" "SORL1(NM_003105.5):c.5023C>T (p.P1675S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121606919C>T" "" "likely benign" "" "0000622578" "0" "30" "11" "121367571" "121367571" "subst" "0" "02329" "SORL1_000202" "g.121367571C>T" "" "" "" "SORL1(NM_003105.5):c.759-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121496862C>T" "" "likely benign" "" "0000622579" "0" "30" "11" "121416106" "121416106" "subst" "0.0018133" "02329" "SORL1_000259" "g.121416106C>T" "" "" "" "SORL1(NM_003105.5):c.2019C>T (p.S673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121545397C>T" "" "likely benign" "" "0000622580" "0" "90" "11" "121421343" "121421343" "subst" "1.21922E-5" "02329" "SORL1_000196" "g.121421343C>T" "" "" "" "SORL1(NM_003105.5):c.2230C>T (p.R744*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121550634C>T" "" "pathogenic" "" "0000622581" "0" "50" "11" "121421361" "121421361" "subst" "0.000524493" "01943" "SORL1_000057" "g.121421361G>A" "" "" "" "SORL1(NM_003105.5):c.2248G>A (p.V750I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121550652G>A" "" "VUS" "" "0000622582" "0" "30" "11" "121429476" "121429476" "subst" "0.00106018" "02329" "SORL1_000261" "g.121429476C>T" "" "" "" "SORL1(NM_003105.5):c.2840C>T (p.T947M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121558767C>T" "" "likely benign" "" "0000622583" "0" "30" "11" "121448015" "121448015" "subst" "0.000971821" "02329" "SORL1_000262" "g.121448015G>A" "" "" "" "SORL1(NM_003105.5):c.3486G>A (p.E1162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121577306G>A" "" "likely benign" "" "0000622584" "0" "30" "11" "121491904" "121491904" "subst" "0.0005241" "02329" "SORL1_000181" "g.121491904A>G" "" "" "" "SORL1(NM_003105.5):c.6021A>G (p.Q2007=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121621195A>G" "" "likely benign" "" "0000656726" "0" "30" "11" "121384925" "121384925" "subst" "5.68625E-5" "01943" "SORL1_000264" "g.121384925G>A" "" "" "" "SORL1(NM_003105.5):c.1106G>A (p.R369H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121514216G>A" "" "likely benign" "" "0000656727" "0" "10" "11" "121457022" "121457022" "subst" "0.00223838" "02329" "SORL1_000265" "g.121457022C>T" "" "" "" "SORL1(NM_003105.5):c.3798C>T (p.S1266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121586313C>T" "" "benign" "" "0000656728" "0" "30" "11" "121466390" "121466390" "subst" "8.17461E-6" "02329" "SORL1_000266" "g.121466390C>T" "" "" "" "SORL1(NM_003105.5):c.4428C>T (p.F1476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121595681C>T" "" "likely benign" "" "0000656729" "0" "30" "11" "121475038" "121475038" "subst" "1.22685E-5" "01943" "SORL1_000220" "g.121475038G>A" "" "" "" "SORL1(NM_003105.5):c.4651+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.121604329G>A" "" "likely benign" "" "0000679088" "0" "30" "11" "121358818" "121358818" "subst" "2.03046E-5" "01943" "SORL1_000267" "g.121358818C>A" "" "" "" "SORL1(NM_003105.5):c.606C>A (p.I202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679089" "0" "50" "11" "121393682" "121393684" "dup" "0" "01943" "SORL1_000268" "g.121393682_121393684dup" "" "" "" "SORL1(NM_003105.5):c.1580_1582dupGAG (p.G527dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679090" "0" "50" "11" "121485586" "121485586" "subst" "0.000651324" "01943" "SORL1_000165" "g.121485586A>G" "" "" "" "SORL1(NM_003105.5):c.5426A>G (p.N1809S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690967" "0" "30" "11" "121429295" "121429295" "subst" "0.000174923" "01943" "SORL1_000269" "g.121429295G>A" "" "" "" "SORL1(NM_003105.5):c.2664-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690968" "0" "50" "11" "121430322" "121430322" "subst" "7.72125E-5" "01943" "SORL1_000080" "g.121430322C>T" "" "" "" "SORL1(NM_003105.5):c.3005C>T (p.T1002M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690969" "0" "30" "11" "121490488" "121490488" "subst" "0" "01943" "SORL1_000270" "g.121490488G>A" "" "" "" "SORL1(NM_003105.5):c.5751G>A (p.G1917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690970" "0" "50" "11" "121495816" "121495816" "subst" "0.0025844" "02325" "SORL1_000185" "g.121495816A>T" "" "" "" "SORL1(NM_003105.5):c.6194A>T (p.D2065V), SORL1(NM_003105.6):c.6194A>T (p.D2065V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723278" "0" "50" "11" "121429359" "121429359" "subst" "4.06134E-6" "02325" "SORL1_000271" "g.121429359A>G" "" "" "" "SORL1(NM_003105.6):c.2723A>G (p.D908G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723279" "0" "30" "11" "121460838" "121460838" "subst" "2.84259E-5" "02329" "SORL1_000272" "g.121460838A>G" "" "" "" "SORL1(NM_003105.5):c.4168A>G (p.R1390G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723280" "0" "50" "11" "121495888" "121495888" "del" "0" "01943" "SORL1_000273" "g.121495888del" "" "" "" "SORL1(NM_003105.5):c.6266delT (p.M2089Rfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723281" "0" "50" "11" "121495911" "121495911" "subst" "0.00123115" "01943" "SORL1_000189" "g.121495911G>A" "" "" "" "SORL1(NM_003105.5):c.6289G>A (p.V2097I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804949" "0" "50" "11" "121384976" "121384976" "subst" "0" "01943" "SORL1_000274" "g.121384976T>C" "" "" "" "SORL1(NM_003105.5):c.1157T>C (p.L386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804950" "0" "50" "11" "121414300" "121414300" "subst" "3.25177E-5" "01943" "SORL1_000043" "g.121414300T>C" "" "" "" "SORL1(NM_003105.5):c.1729T>C (p.S577P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804951" "0" "30" "11" "121414348" "121414348" "subst" "4.0663E-6" "01943" "SORL1_000275" "g.121414348A>G" "" "" "" "SORL1(NM_003105.5):c.1777A>G (p.K593E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804952" "0" "50" "11" "121421313" "121421313" "subst" "0.00106042" "01943" "SORL1_000055" "g.121421313G>A" "" "" "" "SORL1(NM_003105.5):c.2200G>A (p.D734N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804953" "0" "50" "11" "121466430" "121466430" "subst" "4.8821E-5" "01943" "SORL1_000139" "g.121466430C>T" "" "" "" "SORL1(NM_003105.5):c.4468C>T (p.R1490C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804954" "0" "50" "11" "121495903" "121495903" "subst" "0.00015845" "01943" "SORL1_000276" "g.121495903C>T" "" "" "" "SORL1(NM_003105.5):c.6281C>T (p.T2094M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862345" "0" "30" "11" "121391474" "121391474" "subst" "0.000138823" "01943" "SORL1_000277" "g.121391474G>A" "" "" "" "SORL1(NM_003105.5):c.1320G>A (p.S440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862346" "0" "30" "11" "121421313" "121421313" "subst" "0.00106042" "02329" "SORL1_000055" "g.121421313G>A" "" "" "" "SORL1(NM_003105.5):c.2200G>A (p.D734N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862347" "0" "50" "11" "121445003" "121445003" "subst" "0" "01943" "SORL1_000211" "g.121445003T>A" "" "" "" "SORL1(NM_003105.5):c.3391T>A (p.C1131S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925337" "0" "50" "11" "121466463" "121466463" "subst" "2.8564E-5" "02325" "SORL1_000141" "g.121466463C>T" "" "" "" "SORL1(NM_003105.6):c.4501C>T (p.R1501W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998823" "0" "30" "11" "121323267" "121323267" "subst" "0.000162788" "01804" "SORL1_000278" "g.121323267C>T" "" "" "" "SORL1(NM_003105.5):c.227C>T (p.(Pro76Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998824" "0" "50" "11" "121421299" "121421299" "subst" "2.84414E-5" "01804" "SORL1_000054" "g.121421299G>A" "" "" "" "SORL1(NM_003105.5):c.2186G>A (p.(Arg729Gln), p.R729Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001022184" "0" "50" "11" "121461870" "121461870" "subst" "0" "04796" "SORL1_000219" "g.121461870G>A" "" "" "" "" "multiple effects on RNA" "In vitro (cloned)" "" "" "0" "" "" "g.121591161G>A" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SORL1 ## Count = 475 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000167208" "00020026" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "3" "0000167209" "00020026" "90" "1531" "0" "1531" "0" "c.1531G>C" "r.(?)" "p.(Gly511Arg)" "11" "0000167210" "00020026" "70" "2771" "0" "2771" "0" "c.2771A>G" "r.(?)" "p.(Asn924Ser)" "20" "0000167211" "00020026" "70" "4073" "0" "4073" "0" "c.4073A>G" "r.(?)" "p.(Asn1358Ser)" "29" "0000167212" "00020026" "70" "4434" "0" "4434" "0" "c.4434C>A" "r.(?)" "p.(Cys1478*)" "32" "0000167213" "00020026" "90" "5042" "0" "5042" "0" "c.5042G>A" "r.(?)" "p.(Gly1681Asp)" "36" "0000167214" "00020026" "70" "5463" "0" "5463" "0" "c.5463G>A" "r.(?)" "p.(Trp1821*)" "41" "0000168328" "00020026" "10" "3220" "0" "3220" "0" "c.3220C>G" "r.(?)" "p.(Gln1074Glu)" "22" "0000168329" "00020026" "10" "3220" "0" "3220" "0" "c.3220C>G" "r.(?)" "p.(Gln1074Glu)" "22" "0000168330" "00020026" "10" "5899" "0" "5899" "0" "c.5899G>A" "r.(?)" "p.(Val1967Ile)" "44" "0000168331" "00020026" "10" "807" "0" "807" "0" "c.807T>C" "r.(=)" "p.(=)" "6" "0000168332" "00020026" "10" "2499" "0" "2499" "0" "c.2499A>T" "r.(=)" "p.(=)" "18" "0000168333" "00020026" "10" "807" "0" "807" "0" "c.807T>C" "r.(=)" "p.(=)" "6" "0000168334" "00020026" "10" "5439" "0" "5439" "0" "c.5439T>A" "r.(?)" "p.(His1813Gln)" "41" "0000168335" "00020026" "10" "5439" "0" "5439" "0" "c.5439T>A" "r.(?)" "p.(His1813Gln)" "41" "0000168336" "00020026" "10" "3346" "0" "3346" "0" "c.3346A>G" "r.(?)" "p.(Ile1116Val)" "24" "0000168337" "00020026" "10" "4303" "0" "4303" "0" "c.4303A>T" "r.(?)" "p.(Thr1435Ser)" "31" "0000168338" "00020026" "10" "2499" "0" "2499" "0" "c.2499A>T" "r.(=)" "p.(=)" "18" "0000168339" "00020026" "10" "3346" "0" "3346" "0" "c.3346A>G" "r.(?)" "p.(Ile1116Val)" "24" "0000168340" "00020026" "10" "4303" "0" "4303" "0" "c.4303A>T" "r.(?)" "p.(Thr1435Ser)" "31" "0000168341" "00020026" "10" "3561" "0" "3561" "0" "c.3561T>G" "r.(=)" "p.(=)" "25" "0000168342" "00020026" "10" "3561" "0" "3561" "0" "c.3561T>G" "r.(=)" "p.(=)" "25" "0000168343" "00020026" "30" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Glu560Lys)" "12" "0000168344" "00020026" "30" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Val884Met)" "19" "0000168345" "00020026" "30" "3337" "0" "3337" "0" "c.3337C>T" "r.(?)" "p.(Pro1113Ser)" "23" "0000168346" "00020026" "30" "4780" "0" "4780" "0" "c.4780G>A" "r.(?)" "p.(Val1594Met)" "35" "0000168347" "00020026" "30" "5195" "0" "5195" "0" "c.5195G>C" "r.(?)" "p.(Gly1732Ala)" "38" "0000168348" "00020026" "30" "5438" "0" "5438" "0" "c.5438A>G" "r.(?)" "p.(His1813Arg)" "41" "0000168349" "00020026" "30" "6112" "0" "6112" "0" "c.6112C>G" "r.(?)" "p.(His2038Asp)" "45" "0000168350" "00020026" "30" "6248" "0" "6248" "0" "c.6248A>G" "r.(?)" "p.(Lys2083Arg)" "46" "0000168351" "00020026" "30" "6441" "0" "6441" "0" "c.6441A>G" "r.(?)" "p.(Ile2147Met)" "47" "0000168352" "00020026" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205Gln)" "4" "0000168353" "00020026" "30" "970" "0" "970" "0" "c.970G>C" "r.(?)" "p.(Val324Leu)" "7" "0000168354" "00020026" "30" "1729" "0" "1729" "0" "c.1729T>C" "r.(?)" "p.(Ser577Pro)" "13" "0000168355" "00020026" "30" "1916" "0" "1916" "0" "c.1916G>A" "r.(?)" "p.(Arg639Gln)" "14" "0000168356" "00020026" "30" "2608" "0" "2608" "0" "c.2608G>A" "r.(?)" "p.(Val870Ile)" "19" "0000168357" "00020026" "30" "2653" "0" "2653" "0" "c.2653C>A" "r.(?)" "p.(Pro885Thr)" "19" "0000168358" "00020026" "30" "3251" "0" "3251" "0" "c.3251G>A" "r.(?)" "p.(Arg1084His)" "23" "0000168359" "00020026" "30" "3337" "0" "3337" "0" "c.3337C>T" "r.(?)" "p.(Pro1113Ser)" "23" "0000168360" "00020026" "30" "3871" "0" "3871" "0" "c.3871T>C" "r.(?)" "p.(Phe1291Leu)" "28" "0000168361" "00020026" "30" "3964" "0" "3964" "0" "c.3964C>A" "r.(?)" "p.(His1322Asn)" "29" "0000168362" "00020026" "30" "4409" "0" "4409" "0" "c.4409G>T" "r.(?)" "p.(Arg1470Leu)" "32" "0000168363" "00020026" "30" "4442" "0" "4442" "0" "c.4442C>T" "r.(?)" "p.(Pro1481Leu)" "32" "0000168364" "00020026" "30" "5002" "0" "5002" "0" "c.5002G>A" "r.(?)" "p.(Val1668Met)" "36" "0000168365" "00020026" "30" "5091" "0" "5091" "0" "c.5091G>A" "r.(?)" "p.(Met1697Ile)" "37" "0000168366" "00020026" "30" "5438" "0" "5438" "0" "c.5438A>G" "r.(?)" "p.(His1813Arg)" "41" "0000168367" "00020026" "30" "5729" "0" "5729" "0" "c.5729G>A" "r.(?)" "p.(Arg1910His)" "43" "0000168368" "00020026" "30" "6248" "0" "6248" "0" "c.6248A>G" "r.(?)" "p.(Lys2083Arg)" "46" "0000168369" "00020026" "30" "6194" "0" "6194" "0" "c.6194A>T" "r.(?)" "p.(Asp2065Val)" "46" "0000168370" "00020026" "30" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Phe1099Leu)" "23" "0000168371" "00020026" "30" "5685" "0" "5685" "0" "c.5685G>A" "r.(=)" "p.(=)" "42" "0000168372" "00020026" "30" "4752" "0" "4752" "0" "c.4752T>A" "r.(=)" "p.(=)" "34" "0000168373" "00020026" "30" "6194" "0" "6194" "0" "c.6194A>T" "r.(?)" "p.(Asp2065Val)" "46" "0000168374" "00020026" "30" "3738" "0" "3738" "0" "c.3738C>T" "r.(=)" "p.(=)" "27" "0000168375" "00020026" "30" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Ala528Thr)" "11" "0000168376" "00020026" "30" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Ala528Thr)" "11" "0000168377" "00020026" "30" "1906" "0" "1906" "0" "c.1906T>A" "r.(?)" "p.(Ser636Thr)" "14" "0000168378" "00020026" "30" "4360" "0" "4360" "0" "c.4360C>T" "r.(?)" "p.(Pro1454Ser)" "31" "0000168379" "00020026" "30" "5091" "0" "5091" "0" "c.5091G>A" "r.(?)" "p.(Met1697Ile)" "37" "0000168380" "00020026" "30" "2228" "0" "2228" "0" "c.2228C>T" "r.(?)" "p.(Ala743Val)" "16" "0000168381" "00020026" "30" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Val750Ile)" "16" "0000168382" "00020026" "30" "3005" "0" "3005" "0" "c.3005C>T" "r.(?)" "p.(Thr1002Met)" "21" "0000168383" "00020026" "30" "3929" "0" "3929" "0" "c.3929C>T" "r.(?)" "p.(Ala1310Val)" "28" "0000168384" "00020026" "30" "4629" "0" "4629" "0" "c.4629G>C" "r.(?)" "p.(Glu1543Asp)" "33" "0000168385" "00020026" "30" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "46" "0000168386" "00020026" "30" "1906" "0" "1906" "0" "c.1906T>A" "r.(?)" "p.(Ser636Thr)" "14" "0000168387" "00020026" "30" "5426" "0" "5426" "0" "c.5426A>G" "r.(?)" "p.(Asn1809Ser)" "41" "0000168388" "00020026" "30" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Asn371Thr)" "8" "0000168389" "00020026" "30" "5426" "0" "5426" "0" "c.5426A>G" "r.(?)" "p.(Asn1809Ser)" "41" "0000168390" "00020026" "30" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "46" "0000168391" "00020026" "30" "4176" "0" "4176" "0" "c.4176C>T" "r.(=)" "p.(=)" "30" "0000168392" "00020026" "30" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Phe1099Leu)" "23" "0000168393" "00020026" "30" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Asn371Thr)" "8" "0000168394" "00020026" "30" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Val750Ile)" "16" "0000168395" "00020026" "30" "5685" "0" "5685" "0" "c.5685G>A" "r.(=)" "p.(=)" "42" "0000168396" "00020026" "30" "4176" "0" "4176" "0" "c.4176C>T" "r.(=)" "p.(=)" "30" "0000168397" "00020026" "30" "4752" "0" "4752" "0" "c.4752T>A" "r.(=)" "p.(=)" "34" "0000168398" "00020026" "30" "3738" "0" "3738" "0" "c.3738C>T" "r.(=)" "p.(=)" "27" "0000168399" "00020026" "70" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ser101Phe)" "2" "0000168400" "00020026" "70" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Arg480Cys)" "10" "0000168401" "00020026" "70" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Ser)" "10" "0000168402" "00020026" "70" "1531" "0" "1531" "0" "c.1531G>C" "r.(?)" "p.(Gly511Arg)" "11" "0000168403" "00020026" "70" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Arg771Cys)" "17" "0000168404" "00020026" "70" "2807" "0" "2807" "0" "c.2807C>T" "r.(?)" "p.(Thr936Met)" "20" "0000168405" "00020026" "70" "3544" "0" "3544" "0" "c.3544G>A" "r.(?)" "p.(Asp1182Asn)" "25" "0000168406" "00020026" "70" "3827" "0" "3827" "0" "c.3827C>T" "r.(?)" "p.(Thr1276Met)" "28" "0000168407" "00020026" "70" "4468" "0" "4468" "0" "c.4468C>T" "r.(?)" "p.(Arg1490Cys)" "32" "0000168408" "00020026" "70" "4969" "0" "4969" "0" "c.4969C>T" "r.(?)" "p.(Leu1657Phe)" "36" "0000168409" "00020026" "70" "5864" "0" "5864" "0" "c.5864C>T" "r.(?)" "p.(Pro1955Leu)" "43" "0000168410" "00020026" "70" "6268" "0" "6268" "0" "c.6268G>T" "r.(?)" 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"p.(Thr833=)" "" "0000254234" "00020026" "30" "6021" "0" "6021" "0" "c.6021A>G" "r.(?)" "p.(Gln2007=)" "" "0000256389" "00020026" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Asn371Thr)" "" "0000256419" "00020026" "50" "3470" "0" "3470" "0" "c.3470A>G" "r.(?)" "p.(Gln1157Arg)" "" "0000256666" "00020026" "50" "1172" "0" "1172" "0" "c.1172A>G" "r.(?)" "p.(Tyr391Cys)" "" "0000299627" "00020026" "30" "1438" "0" "1438" "0" "c.1438C>T" "r.(?)" "p.(Arg480Cys)" "" "0000299628" "00020026" "10" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Ala528Thr)" "" "0000299629" "00020026" "10" "1653" "0" "1653" "0" "c.1653=" "r.(=)" "p.(Ala551=)" "" "0000299630" "00020026" "30" "1906" "0" "1906" "0" "c.1906T>A" "r.(?)" "p.(Ser636Thr)" "" "0000299631" "00020026" "10" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Arg79=)" "" "0000299632" "00020026" "10" "2571" "15" "2571" "15" "c.2571+15G>A" "r.(=)" "p.(=)" "" "0000299633" "00020026" "90" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Ter)" "" "0000299634" "00020026" "30" "3050" "-10" "3050" "-10" "c.3050-10T>C" "r.(=)" "p.(=)" "" "0000299635" "00020026" "10" "3220" "0" "3220" "0" "c.3220=" "r.(=)" "p.(Glu1074=)" "" "0000299636" "00020026" "30" "3261" "0" "3261" "0" "c.3261C>T" "r.(?)" "p.(Asn1087=)" "" "0000299637" "00020026" "10" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Phe1099Leu)" "" "0000299638" "00020026" "30" "3320" "0" "3320" "0" "c.3320G>A" "r.(?)" "p.(Ser1107Asn)" "" "0000299639" "00020026" "30" "3337" "10" "3337" "10" "c.3337+10C>T" "r.(=)" "p.(=)" "" "0000299640" "00020026" "30" "3391" "0" "3391" "0" "c.3391T>A" "r.(?)" "p.(Cys1131Ser)" "" "0000299641" "00020026" "10" "3460" "12" "3460" "12" "c.3460+12T>C" "r.(=)" "p.(=)" "" "0000299642" "00020026" "10" "3581" "-18" "3581" "-18" "c.3581-18C>G" "r.(=)" "p.(=)" "" "0000299643" "00020026" "30" "3707" "-11" "3707" "-11" "c.3707-11T>C" "r.(=)" "p.(=)" "" "0000299644" "00020026" "10" "3738" "0" "3738" "0" "c.3738C>T" "r.(?)" "p.(Asn1246=)" "" "0000299645" "00020026" "30" "3772" "0" "3772" "0" "c.3772G>A" "r.(?)" "p.(Gly1258Ser)" "" "0000299646" "00020026" "10" "3814" "10" "3814" "10" "c.3814+10T>G" "r.(=)" "p.(=)" "" "0000299647" "00020026" "30" "3993" "0" "3993" "0" "c.3993G>C" "r.(?)" "p.(Gln1331His)" "" "0000299648" "00020026" "30" "4347" "0" "4347" "0" "c.4347C>T" "r.(?)" "p.(Asp1449=)" "" "0000299649" "00020026" "30" "4449" "0" "4449" "0" "c.4449G>T" "r.(?)" "p.(Thr1483=)" "" "0000299650" "00020026" "10" "4752" "0" "4752" "0" "c.4752T>A" "r.(?)" "p.(Ala1584=)" "" "0000299651" "00020026" "30" "4779" "-8" "4779" "-8" "c.4779-8T>G" "r.(=)" "p.(=)" "" "0000299652" "00020026" "30" "5006" "0" "5006" "0" "c.5006T>C" "r.(?)" "p.(Ile1669Thr)" "" "0000299653" "00020026" "30" "5023" "0" "5023" "0" "c.5023C>T" "r.(?)" "p.(Pro1675Ser)" "" "0000299654" "00020026" "30" "5396" "0" "5396" "0" "c.5396G>A" "r.(?)" "p.(Arg1799Gln)" "" "0000299655" "00020026" "30" "5448" "0" "5448" "0" "c.5448T>C" "r.(?)" "p.(Tyr1816=)" "" "0000299656" "00020026" "10" "5685" "0" "5685" "0" "c.5685G>A" "r.(?)" "p.(Lys1895=)" "" "0000299657" "00020026" "30" "5724" "17" "5724" "17" "c.5724+17G>A" "r.(=)" "p.(=)" "" "0000299658" "00020026" "10" "5899" "0" "5899" "0" "c.5899=" "r.(=)" "p.(Ile1967=)" "" "0000299659" "00020026" "30" "6282" "0" "6282" "0" "c.6282G>A" "r.(?)" "p.(Thr2094=)" "" "0000299660" "00020026" "30" "6318" "0" "6318" "0" "c.6318G>A" "r.(?)" "p.(Gln2106=)" "" "0000299661" "00020026" "30" "759" "-9" "759" "-8" "c.759-9_759-8del" "r.(=)" "p.(=)" "" "0000299662" "00020026" "10" "759" "-8" "759" "-8" "c.759-8del" "r.(=)" "p.(=)" "" "0000299664" "00020026" "10" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(His269=)" "" "0000299665" "00020026" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000308690" "00020026" "10" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Ala528Thr)" "" "0000308691" "00020026" "10" "1653" "0" "1653" "0" "c.1653=" "r.(=)" "p.(Ala551=)" "" "0000308692" "00020026" "30" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Glu560Lys)" "" "0000308693" "00020026" "50" "1915" "0" "1915" "0" "c.1915C>T" "r.(?)" "p.(Arg639Trp)" "" "0000308694" "00020026" "30" "201" "0" "201" "0" "c.201G>C" "r.(?)" "p.(Arg67Ser)" "" "0000308695" "00020026" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Arg79=)" "" "0000308696" "00020026" "10" "3220" "0" "3220" "0" "c.3220=" "r.(=)" "p.(Glu1074=)" "" "0000308697" "00020026" "30" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Phe1099Leu)" "" "0000308698" "00020026" "10" "3460" "12" "3460" "12" "c.3460+12T>C" "r.(=)" "p.(=)" "" "0000308699" "00020026" "10" "3581" "-18" "3581" "-18" "c.3581-18C>G" "r.(=)" "p.(=)" "" "0000308700" "00020026" "50" "3600" "0" "3600" "0" "c.3600G>C" "r.(?)" "p.(Glu1200Asp)" "" "0000308701" "00020026" "10" "3738" "0" "3738" "0" "c.3738C>T" "r.(?)" "p.(Asn1246=)" "" "0000308702" "00020026" "10" "3814" "10" "3814" "10" "c.3814+10T>G" "r.(=)" "p.(=)" "" "0000308703" "00020026" "50" "3929" "0" "3929" "0" "c.3929C>T" "r.(?)" "p.(Ala1310Val)" "" "0000308704" "00020026" "50" "3935" "0" "3935" "0" "c.3935T>C" "r.(?)" "p.(Phe1312Ser)" "" "0000308705" "00020026" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Asp140Asn)" "" "0000308706" "00020026" "10" "4214" "-117" "4214" "-117" "c.4214-117G>C" "r.(=)" "p.(=)" "" "0000308707" "00020026" "50" "4369" "5" "4369" "5" "c.4369+5G>A" "r.spl?" "p.?" "" "0000308708" "00020026" "10" "4752" "0" "4752" "0" "c.4752T>A" "r.(?)" "p.(Ala1584=)" "" "0000308709" "00020026" "10" "5448" "0" "5448" "0" "c.5448T>C" "r.(?)" "p.(Tyr1816=)" "" "0000308710" "00020026" "50" "5479" "0" "5479" "0" "c.5479G>T" "r.(?)" "p.(Gly1827Trp)" "" "0000308711" "00020026" "50" "5579" "0" "5579" "0" "c.5579G>A" "r.(?)" "p.(Cys1860Tyr)" "" "0000308712" "00020026" "50" "5647" "0" "5647" "0" "c.5647C>T" "r.(?)" "p.(Arg1883Cys)" "" "0000308713" "00020026" "10" "5685" "0" "5685" "0" "c.5685G>A" "r.(?)" "p.(Lys1895=)" "" "0000308714" "00020026" "10" "5899" "0" "5899" "0" "c.5899=" "r.(=)" "p.(Ile1967=)" "" "0000308715" "00020026" "30" "6171" "8" "6171" "8" "c.6171+8C>T" "r.(=)" "p.(=)" "" "0000308716" "00020026" "30" "6318" "0" "6318" "0" "c.6318G>A" "r.(?)" "p.(Gln2106=)" "" "0000308717" "00020026" "30" "6401" "0" "6401" "0" "c.6401C>T" "r.(?)" "p.(Thr2134Met)" "" "0000308718" "00020026" "30" "759" "-7" "759" "-7" "c.759-7C>T" "r.(=)" "p.(=)" "" "0000308719" "00020026" "10" "807" "0" "807" "0" "c.807T>C" "r.(?)" "p.(His269=)" "" "0000308720" "00020026" "10" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000542762" "00020026" "30" "16" "0" "16" "0" "c.16A>T" "r.(?)" "p.(Ser6Cys)" "" "0000542763" "00020026" "50" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "" "0000542764" "00020026" "30" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "" "0000542765" "00020026" "10" "759" "-8" "759" "-8" "c.759-8dup" "r.(=)" "p.(=)" "" "0000542767" "00020026" "30" "759" "-5" "759" "-5" "c.759-5G>T" "r.spl?" "p.?" "" "0000542769" "00020026" "70" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Ter)" "" "0000542770" "00020026" "30" "1099" "0" "1099" "0" "c.1099A>G" "r.(?)" "p.(Asn367Asp)" "" "0000542771" "00020026" "30" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Asn371Thr)" "" "0000542772" "00020026" "50" "1228" "0" "1229" "0" "c.1228_1229insAAATGCAAATGAAGTCAG" "r.(?)" "p.(Pro410delinsGlnMetGlnMetLysSerAla)" "" "0000542773" "00020026" "30" "1729" "0" "1729" "0" "c.1729T>C" "r.(?)" "p.(Ser577Pro)" "" "0000542774" "00020026" "30" "1749" "0" "1749" "0" "c.1749G>A" "r.(?)" "p.(Val583=)" "" "0000542775" "00020026" "50" "1871" "0" "1871" "0" "c.1871C>T" "r.(?)" "p.(Pro624Leu)" "" "0000542776" "00020026" "30" "1890" "0" "1890" "0" "c.1890C>T" "r.(?)" "p.(Tyr630=)" "" "0000542777" "00020026" "50" "1916" "0" "1916" "0" "c.1916G>T" "r.(?)" "p.(Arg639Leu)" "" "0000542778" "00020026" "30" "2052" "0" "2052" "0" "c.2052T>C" "r.(?)" "p.(Cys684=)" "" "0000542779" "00020026" "30" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Ser711=)" "" "0000542780" "00020026" "30" "2180" "12" "2180" "12" "c.2180+12A>G" "r.(=)" "p.(=)" "" "0000542781" "00020026" "50" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729Gln)" "" "0000542782" "00020026" "30" "2228" "0" "2228" "0" "c.2228C>T" "r.(?)" "p.(Ala743Val)" "" "0000542783" "00020026" "30" "2719" "0" "2719" "0" "c.2719A>G" "r.(?)" "p.(Met907Val)" "" "0000542784" "00020026" "90" "2883" "0" "2886" "0" "c.2883_2886del" "r.(?)" "p.(His962ProfsTer45)" "" "0000542785" "00020026" "50" "2898" "0" "2898" "0" "c.2898T>G" "r.(?)" "p.(Ile966Met)" "" "0000542786" "00020026" "50" "3369" "0" "3369" "0" "c.3369T>A" "r.(?)" "p.(Phe1123Leu)" "" "0000542787" "00020026" "30" "3369" "0" "3369" "0" "c.3369T>A" "r.(?)" "p.(Phe1123Leu)" "" "0000542788" "00020026" "50" "3370" "0" "3370" "0" "c.3370C>A" "r.(?)" "p.(Arg1124Ser)" "" "0000542789" "00020026" "30" "3370" "0" "3370" "0" "c.3370C>A" "r.(?)" "p.(Arg1124Ser)" "" "0000542790" "00020026" "30" "3501" "0" "3501" "0" "c.3501C>G" "r.(?)" "p.(Ser1167=)" "" "0000542791" "00020026" "10" "3561" "0" "3561" "0" "c.3561T>G" "r.(?)" "p.(Ser1187=)" "" "0000542792" "00020026" "10" "3561" "0" "3561" "0" "c.3561T>G" "r.(?)" "p.(Ser1187=)" "" "0000542793" "00020026" "50" "3601" "0" "3601" "0" "c.3601G>T" "r.(?)" "p.(Ala1201Ser)" "" "0000542794" "00020026" "30" "3665" "0" "3665" "0" "c.3665C>T" "r.(?)" "p.(Thr1222Met)" "" "0000542795" "00020026" "50" "3772" "0" "3772" "0" "c.3772G>A" "r.(?)" "p.(Gly1258Ser)" "" "0000542796" "00020026" "10" "4176" "0" "4176" "0" "c.4176C>T" "r.(?)" "p.(Asn1392=)" "" "0000542797" "00020026" "50" "4271" "0" "4271" "0" "c.4271A>G" "r.(?)" "p.(Tyr1424Cys)" "" "0000542798" "00020026" "30" "4375" "0" "4375" "0" "c.4375G>A" "r.(?)" "p.(Val1459Ile)" "" "0000542799" "00020026" "30" "4443" "0" "4443" "0" "c.4443G>A" "r.(?)" "p.(Pro1481=)" "" "0000542800" "00020026" "30" "4469" "0" "4469" "0" "c.4469G>A" "r.(?)" "p.(Arg1490His)" "" "0000542801" "00020026" "30" "4651" "10" "4651" "10" "c.4651+10G>A" "r.(=)" "p.(=)" "" "0000542802" "00020026" "50" "4667" "0" "4667" "0" "c.4667A>G" "r.(?)" "p.(Tyr1556Cys)" "" "0000542803" "00020026" "50" "4949" "-1" "4949" "-1" "c.4949-1G>A" "r.spl?" "p.?" "" "0000542804" "00020026" "30" "5426" "0" "5426" "0" "c.5426A>G" "r.(?)" "p.(Asn1809Ser)" "" "0000542805" "00020026" "30" "5439" "0" "5439" "0" "c.5439T>A" "r.(?)" "p.(His1813Gln)" "" "0000542806" "00020026" "10" "5439" "0" "5439" "0" "c.5439T>A" "r.(?)" "p.(His1813Gln)" "" "0000542807" "00020026" "30" "6194" "0" "6194" "0" "c.6194A>T" "r.(?)" "p.(Asp2065Val)" "" "0000542808" "00020026" "10" "6194" "0" "6194" "0" "c.6194A>T" "r.(?)" "p.(Asp2065Val)" "" "0000542809" "00020026" "30" "6348" "0" "6348" "0" "c.6348C>T" "r.(?)" "p.(Tyr2116=)" "" "0000613115" "00020026" "30" "201" "0" "201" "0" "c.201G>A" "r.(?)" "p.(Arg67=)" "" "0000613116" "00020026" "30" "759" "-5" "759" "-5" "c.759-5G>T" "r.spl?" "p.?" "" "0000613117" "00020026" "50" "2441" "0" "2441" "0" "c.2441G>A" "r.(?)" "p.(Arg814His)" "" "0000613118" "00020026" "50" "2441" "0" "2441" "0" "c.2441G>A" "r.(?)" "p.(Arg814His)" "" "0000613119" "00020026" "30" "3587" "0" "3587" "0" "c.3587A>G" "r.(?)" "p.(Tyr1196Cys)" "" "0000613120" "00020026" "30" "3620" "0" "3620" "0" "c.3620G>A" "r.(?)" "p.(Arg1207Gln)" "" "0000613121" "00020026" "30" "4375" "0" "4375" "0" "c.4375G>A" "r.(?)" "p.(Val1459Ile)" "" "0000613122" "00020026" "30" "5023" "0" "5023" "0" "c.5023C>T" "r.(?)" "p.(Pro1675Ser)" "" "0000622578" "00020026" "30" "759" "-7" "759" "-7" "c.759-7C>T" "r.(=)" "p.(=)" "" "0000622579" "00020026" "30" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Ser673=)" "" "0000622580" "00020026" "90" "2230" "0" "2230" "0" "c.2230C>T" "r.(?)" "p.(Arg744Ter)" "" "0000622581" "00020026" "50" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Val750Ile)" "" "0000622582" "00020026" "30" "2840" "0" "2840" "0" "c.2840C>T" "r.(?)" "p.(Thr947Met)" "" "0000622583" "00020026" "30" "3486" "0" "3486" "0" "c.3486G>A" "r.(?)" "p.(Glu1162=)" "" "0000622584" "00020026" "30" "6021" "0" "6021" "0" "c.6021A>G" "r.(?)" "p.(Gln2007=)" "" "0000656726" "00020026" "30" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Arg369His)" "" "0000656727" "00020026" "10" "3798" "0" "3798" "0" "c.3798C>T" "r.(?)" "p.(Ser1266=)" "" "0000656728" "00020026" "30" "4428" "0" "4428" "0" "c.4428C>T" "r.(?)" "p.(Phe1476=)" "" "0000656729" "00020026" "30" "4651" "5" "4651" "5" "c.4651+5G>A" "r.spl?" "p.?" "" "0000679088" "00020026" "30" "606" "0" "606" "0" "c.606C>A" "r.(?)" "p.(Ile202=)" "" "0000679089" "00020026" "50" "1580" "0" "1582" "0" "c.1580_1582dup" "r.(?)" "p.(Gly527dup)" "" "0000679090" "00020026" "50" "5426" "0" "5426" "0" "c.5426A>G" "r.(?)" "p.(Asn1809Ser)" "" "0000690967" "00020026" "30" "2664" "-5" "2664" "-5" "c.2664-5G>A" "r.spl?" "p.?" "" "0000690968" "00020026" "50" "3005" "0" "3005" "0" "c.3005C>T" "r.(?)" "p.(Thr1002Met)" "" "0000690969" "00020026" "30" "5751" "0" "5751" "0" "c.5751G>A" "r.(?)" "p.(Gly1917=)" "" "0000690970" "00020026" "50" "6194" "0" "6194" "0" "c.6194A>T" "r.(?)" "p.(Asp2065Val)" "" "0000723278" "00020026" "50" "2723" "0" "2723" "0" "c.2723A>G" "r.(?)" "p.(Asp908Gly)" "" "0000723279" "00020026" "30" "4168" "0" "4168" "0" "c.4168A>G" "r.(?)" "p.(Arg1390Gly)" "" "0000723280" "00020026" "50" "6266" "0" "6266" "0" "c.6266del" "r.(?)" "p.(Met2089Argfs*58)" "" "0000723281" "00020026" "50" "6289" "0" "6289" "0" "c.6289G>A" "r.(?)" "p.(Val2097Ile)" "" "0000804949" "00020026" "50" "1157" "0" "1157" "0" "c.1157T>C" "r.(?)" "p.(Leu386Ser)" "" "0000804950" "00020026" "50" "1729" "0" "1729" "0" "c.1729T>C" "r.(?)" "p.(Ser577Pro)" "" "0000804951" "00020026" "30" "1777" "0" "1777" "0" "c.1777A>G" "r.(?)" "p.(Lys593Glu)" "" "0000804952" "00020026" "50" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Asp734Asn)" "" "0000804953" "00020026" "50" "4468" "0" "4468" "0" "c.4468C>T" "r.(?)" "p.(Arg1490Cys)" "" "0000804954" "00020026" "50" "6281" "0" "6281" "0" "c.6281C>T" "r.(?)" "p.(Thr2094Met)" "" "0000862345" "00020026" "30" "1320" "0" "1320" "0" "c.1320G>A" "r.(?)" "p.(Ser440=)" "" "0000862346" "00020026" "30" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Asp734Asn)" "" "0000862347" "00020026" "50" "3391" "0" "3391" "0" "c.3391T>A" "r.(?)" "p.(Cys1131Ser)" "" "0000925337" "00020026" "50" "4501" "0" "4501" "0" "c.4501C>T" "r.(?)" "p.(Arg1501Trp)" "" "0000998823" "00020026" "30" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Pro76Leu)" "" "0000998824" "00020026" "50" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Arg729Gln)" "" "0001022184" "00020026" "50" "4369" "5" "4369" "5" "c.4369+5G>A" "r.[4214_4369del,4369_4370insGTGAATTCTGGCCCAG,=]" "p.[Asp1405_Leu1456del,Ala1457GlyfsTer21]" "31i" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 309 "{{screeningid}}" "{{variantid}}" "0000103714" "0000167208" "0000103715" "0000167209" "0000103716" "0000167210" "0000103717" "0000167211" "0000103718" "0000167212" "0000103719" "0000167213" "0000103720" "0000167214" "0000103784" "0000168399" "0000103785" "0000168432" "0000103786" "0000168433" "0000103787" "0000168331" "0000103788" "0000168431" "0000103789" "0000168434" "0000103790" "0000168415" "0000103791" "0000168417" "0000103792" "0000168393" "0000103793" "0000168418" "0000103794" "0000168419" "0000103795" "0000168400" "0000103796" "0000168401" "0000103797" "0000168402" "0000103798" "0000168375" "0000103799" "0000168343" "0000103800" "0000168377" "0000103801" "0000168420" "0000103802" "0000168428" "0000103803" "0000168394" 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