### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PSEN2)
# 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}}"
"PSEN2" "presenilin 2 (Alzheimer disease 4)" "1" "q31-q42" "unknown" "NG_007381.1" "UD_132118416389" "" "http://www.LOVD.nl/PSEN2" "" "1" "9509" "5664" "600759" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/PSEN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-04-03 16:12:47" "00000" "2025-05-05 21:14:00"
## 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}}"
"00016998" "PSEN2" "transcript variant 1" "001" "NM_000447.2" "" "NP_000438.2" "" "" "" "-427" "1871" "1347" "227058273" "227083804" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00096" "FTD" "dementia, frontotemporal (FTD)" "AD" "600274" "" "" "" "00008" "2012-12-10 14:01:50" "00006" "2021-12-10 21:51:32"
"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"
"00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06"
"02615" "AD4" "Alzheimer disease, type 4 (AD-4)" "AD" "606889" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-05-02 16:24:53"
"03395" "CMD1V" "cardiomyopathy, dilated, type 1V (CMD-1V)" "AD" "613697" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"PSEN2" "02615"
"PSEN2" "03395"
## Individuals ## Do not remove or alter this header ##
## Count = 44
"{{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}}"
"00034573" "" "" "" "1" "" "00556" "" "" "M" "no" "France" "" "0" "" "" "" ""
"00057212" "" "" "" "2" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" ""
"00057213" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" ""
"00057214" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" ""
"00057215" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" ""
"00148580" "" "" "" "1" "" "02360" "{PMID:Cruts M 1998:9384602}" "" "" "" "Netherlands" "" "0" "" "" "white" ""
"00148644" "" "" "" "1" "" "02360" "{PMID:Rogaev EI 1995:7651536}" "" "" "" "Italy" "" "0" "" "" "white" ""
"00148645" "" "" "" "3" "" "02360" "{PMID:Levy-Lahad E 1995:7638622} {PMID:Rogaev EI 1995:7651536}" "" "" "" "" "" "0" "" "" "Volga-German" ""
"00148646" "" "" "" "6" "" "02360" "{PMID:Levy-Lahad E 1995:7638622} {PMID:Rogaev EI 1995:7651536}" "" "" "" "" "" "0" "" "" "Volga-German" ""
"00148647" "" "" "" "6" "" "02360" "{PMID:Levy-Lahad E 1995:7638622} {PMID:Rogaev EI 1995:7651536}" "" "" "" "" "" "0" "" "" "Volga-German" ""
"00148648" "" "" "" "17" "" "02360" "{PMID:Levy-Lahad E 1995:7638622} {PMID:Rogaev EI 1995:7651536}" "" "" "" "" "" "0" "" "" "Volga-German" ""
"00148649" "" "" "" "22" "" "02360" "{PMID:Levy-Lahad E 1995:7638622} {PMID:Rogaev EI 1995:7651536}" "" "" "" "" "" "0" "" "" "Volga-German" ""
"00148650" "" "" "" "17" "" "02360" "{PMID:Levy-Lahad E 1995:7638622} {PMID:Rogaev EI 1995:7651536}" "" "" "" "" "" "0" "" "" "Volga-German" ""
"00148651" "" "" "" "5" "" "02360" "{PMID:Levy-Lahad E 1995:7638622} {PMID:Rogaev EI 1995:7651536}" "" "" "" "" "" "0" "" "" "Volga-German" ""
"00148663" "" "" "" "1" "" "02360" "{PMID:Beyer K 1998:} {PMID:Lao JI 1998:10732806}" "" "" "" "Spain" "" "0" "" "" "white" ""
"00148702" "" "" "" "3" "" "02360" "{PMID:Finckh U 2000:10631141}" "" "" "" "Germany" "49y09m" "0" "" "" "white" ""
"00148703" "" "" "" "3" "" "02360" "{PMID:Finckh U 2000:10631141} {PMID:Finckh U 2000:10822446}" "" "" "" "Italy" "65y" "0" "" "" "white" ""
"00148811" "" "" "" "2" "" "02360" "{PMID:Lleo A 2001:11723295} {PMID:Lleo A 2002:12433263}" "" "" "" "Spain" "80y" "0" "" "" "white" ""
"00148830" "" "" "" "3" "" "02360" "{PMID:Sorbi S 2002:}" "" "" "" "Italy" "83y06m" "0" "" "" "white" ""
"00148885" "" "" "" "3" "" "02360" "{PMID:Lleo A 2002:12433263}" "" "" "" "Spain" "67y" "0" "" "" "white" ""
"00149001" "" "" "" "2" "" "02360" "" "" "" "" "Poland" "" "0" "" "" "white" ""
"00149042" "" "" "" "1" "" "02360" "" "" "" "" "Germany" "78y" "0" "" "" "white" ""
"00149043" "" "" "" "0" "" "02360" "" "Unaffected 40-year-old individual" "" "" "Germany" "" "0" "" "" "white (Volga-German Ancestry)" ""
"00149192" "" "" "" "4" "" "02360" "" "" "" "" "Italy" "67y" "0" "" "" "white" ""
"00149228" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" ""
"00149238" "" "" "" "3" "" "02360" "" "" "" "" "Italy" "82y" "0" "" "" "white" ""
"00149360" "" "" "" "1" "" "02360" "" "The proband also carries the PSEN1 Glu318Gly variation\"\"" "" "" "" "78y06m" "0" "" "" "" ""
"00149399" "" "" "" "1" "" "02360" "" "" "" "" "" "57y" "0" "" "" "" ""
"00149430" "" "" "" "1" "" "02360" "" "Iberia" "" "" "" "" "0" "" "" "white" ""
"00149431" "" "" "" "1" "" "02360" "" "Iberia" "" "" "" "" "0" "" "" "white" ""
"00149434" "" "" "" "2" "" "02360" "" "" "" "" "Italy" "70y" "0" "" "" "white" ""
"00149435" "" "" "" "2" "" "02360" "" "" "" "" "Italy" "83y" "0" "" "" "white" ""
"00149445" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" ""
"00149657" "" "" "" "1" "" "02360" "" "No segregation. Unaffected mother carries this mutation. Affected sibling does not carry this mutation, but the MAPT Val75Ala mutation.\"\"" "" "" "" "" "0" "" "" "" ""
"00149670" "" "" "" "1" "" "02360" "" "" "" "" "Netherlands" "" "0" "" "" "white" ""
"00149671" "" "" "" "1" "" "02360" "" "" "" "" "Netherlands" "" "0" "" "" "white" ""
"00149672" "" "" "" "1" "" "02360" "" "" "" "" "Netherlands" "" "0" "" "" "white" ""
"00149673" "" "" "" "1" "" "02360" "" "" "" "" "Belgium" "" "0" "" "" "white" ""
"00149674" "" "" "" "1" "" "02360" "" "" "" "" "Belgium" "" "0" "" "" "white" ""
"00269349" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00289742" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289743" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289744" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00455817" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat57"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 47
"{{individualid}}" "{{diseaseid}}"
"00034573" "00204"
"00057212" "00414"
"00057213" "00414"
"00057214" "00414"
"00057215" "00414"
"00148580" "00204"
"00148644" "00198"
"00148644" "00204"
"00148645" "00204"
"00148646" "00204"
"00148647" "00204"
"00148648" "00204"
"00148649" "00204"
"00148650" "00204"
"00148651" "00204"
"00148663" "00204"
"00148702" "00204"
"00148703" "00204"
"00148811" "00204"
"00148830" "00204"
"00148885" "00204"
"00149001" "00204"
"00149042" "00204"
"00149043" "00204"
"00149192" "00096"
"00149192" "00204"
"00149228" "00204"
"00149238" "00204"
"00149238" "00414"
"00149360" "00204"
"00149399" "00204"
"00149430" "00204"
"00149431" "00204"
"00149434" "00204"
"00149435" "00096"
"00149445" "00204"
"00149657" "00096"
"00149670" "00204"
"00149671" "00204"
"00149672" "00204"
"00149673" "00204"
"00149674" "00204"
"00269349" "00198"
"00289742" "00198"
"00289743" "00198"
"00289744" "00198"
"00455817" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00096, 00198, 00204, 00414, 02615, 03395
## Count = 41
"{{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}}"
"0000027978" "00204" "00034573" "00556" "Isolated (sporadic)" "" "memory decline and biparietal posterior variant of AD; sporadic case (censoring effect, father)" "53y" "" "" "" "" "" "" "" "" "" ""
"0000043892" "00414" "00057212" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043893" "00414" "00057213" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043894" "00414" "00057214" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043895" "00414" "00057215" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000120998" "00095" "00148580" "02360" "Isolated (sporadic)" "62y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121062" "00095" "00148644" "02360" "Familial, autosomal dominant" "50y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121063" "00095" "00148645" "02360" "Familial, autosomal dominant" "59y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121064" "00095" "00148646" "02360" "Familial, autosomal dominant" "56y08m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121065" "00095" "00148647" "02360" "Familial, autosomal dominant" "59y06m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121066" "00095" "00148648" "02360" "Familial, autosomal dominant" "50y02m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121067" "00095" "00148649" "02360" "Familial, autosomal dominant" "60y10m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121068" "00095" "00148650" "02360" "Familial, autosomal dominant" "59y07m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121069" "00095" "00148651" "02360" "Familial, autosomal dominant" "52y10m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121081" "00095" "00148663" "02360" "Unknown" "71y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121120" "00095" "00148702" "02360" "Familial" "45y08m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121121" "00095" "00148703" "02360" "Familial" "50y08m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121229" "00095" "00148811" "02360" "Familial" "56y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121248" "00095" "00148830" "02360" "Familial, autosomal dominant" "65y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121303" "00095" "00148885" "02360" "Familial, autosomal dominant" "56y04m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121419" "00095" "00149001" "02360" "Familial" "70y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121460" "00095" "00149042" "02360" "Familial" "50y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121461" "00095" "00149043" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121610" "00095" "00149192" "02360" "Familial, autosomal dominant" "57y04m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121646" "00095" "00149228" "02360" "Isolated (sporadic)" "81y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121656" "00095" "00149238" "02360" "Familial, autosomal dominant" "63y07m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121776" "00095" "00149360" "02360" "Familial, autosomal dominant" "76y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121814" "00095" "00149399" "02360" "Familial" "70y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121845" "00095" "00149430" "02360" "Isolated (sporadic)" "54y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121846" "00095" "00149431" "02360" "Isolated (sporadic)" "75y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121849" "00095" "00149434" "02360" "Familial, autosomal dominant" "60y06m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121850" "00104" "00149435" "02360" "Familial" "58y06m" "" "" "" "" "" "" "" "" "" "" "" ""
"0000121860" "00095" "00149445" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000122071" "00104" "00149657" "02360" "Unknown" "31y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000122084" "00095" "00149670" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000122085" "00095" "00149671" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000122086" "00095" "00149672" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000122087" "00095" "00149673" "02360" "Familial" "70y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000122088" "00095" "00149674" "02360" "Unknown" "71y" "" "" "" "" "" "" "" "" "" "" "" ""
"0000207181" "00198" "00269349" "01164" "Unknown" "" "Sleep apnea (HP:0010535); Parietal hypometabolism in FDG PET (HP:0012662); Focal white matter lesions (HP:0007042); Leukoencephalopathy (HP:0002352)" "" "" "" "" "" "" "" "" "" "" ""
"0000344350" "00198" "00455817" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "AD4" "neurogenetic diseases" ""
## Screenings ## Do not remove or alter this header ##
## Count = 44
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000034644" "00034573" "1" "00556" "00556" "2015-04-01 08:25:06" "" "" "SEQ-NG" "DNA" "" ""
"0000057173" "00057212" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" ""
"0000057174" "00057213" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" ""
"0000057175" "00057214" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" ""
"0000057176" "00057215" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" ""
"0000149436" "00148580" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149500" "00148644" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149501" "00148645" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149502" "00148646" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149503" "00148647" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149504" "00148648" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149505" "00148649" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149506" "00148650" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149507" "00148651" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149519" "00148663" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149558" "00148702" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149559" "00148703" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149667" "00148811" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149686" "00148830" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149741" "00148885" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149857" "00149001" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149898" "00149042" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000149899" "00149043" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150048" "00149192" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150084" "00149228" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150094" "00149238" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150216" "00149360" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150255" "00149399" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150286" "00149430" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150287" "00149431" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150290" "00149434" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150291" "00149435" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150301" "00149445" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150513" "00149657" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150526" "00149670" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150527" "00149671" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150528" "00149672" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150529" "00149673" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000150530" "00149674" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" ""
"0000270491" "00269349" "1" "01164" "01164" "2019-11-20 18:18:35" "" "" "SEQ-NG-S" "DNA" "" ""
"0000290910" "00289742" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000290911" "00289743" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000290912" "00289744" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000457433" "00455817" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 39
"{{screeningid}}" "{{geneid}}"
"0000034644" "PSEN2"
"0000057173" "PSEN2"
"0000057174" "PSEN2"
"0000057175" "PSEN2"
"0000057176" "PSEN2"
"0000149436" "PSEN2"
"0000149500" "PSEN2"
"0000149501" "PSEN2"
"0000149502" "PSEN2"
"0000149503" "PSEN2"
"0000149504" "PSEN2"
"0000149505" "PSEN2"
"0000149506" "PSEN2"
"0000149507" "PSEN2"
"0000149519" "PSEN2"
"0000149558" "PSEN2"
"0000149559" "PSEN2"
"0000149667" "PSEN2"
"0000149686" "PSEN2"
"0000149741" "PSEN2"
"0000149857" "PSEN2"
"0000149898" "PSEN2"
"0000149899" "PSEN2"
"0000150048" "PSEN2"
"0000150084" "PSEN2"
"0000150094" "PSEN2"
"0000150216" "PSEN2"
"0000150255" "PSEN2"
"0000150286" "PSEN2"
"0000150287" "PSEN2"
"0000150290" "PSEN2"
"0000150291" "PSEN2"
"0000150301" "PSEN2"
"0000150513" "PSEN2"
"0000150526" "PSEN2"
"0000150527" "PSEN2"
"0000150528" "PSEN2"
"0000150529" "PSEN2"
"0000150530" "PSEN2"
## 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 = 120
"{{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}}"
"0000061763" "0" "90" "1" "227076678" "227076678" "subst" "0" "00556" "PSEN2_000020" "g.227076678A>G" "" "submitted" "" "" "" "Unknown" "" "" "0" "" "" "g.226888977A>G" "" "pathogenic" ""
"0000087461" "0" "50" "1" "227071413" "227071413" "subst" "0.000228281" "01225" "PSEN2_000024" "g.227071413A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.226883712A>G" "" "VUS" ""
"0000087462" "0" "50" "1" "227071475" "227071475" "subst" "0.00369281" "01225" "PSEN2_000021" "g.227071475C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.226883774C>T" "" "VUS" ""
"0000087463" "0" "50" "1" "227073282" "227073282" "subst" "8.13359E-6" "01225" "PSEN2_000022" "g.227073282C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.226885581C>T" "" "VUS" ""
"0000087464" "0" "50" "1" "227081812" "227081812" "subst" "0.000109726" "01225" "PSEN2_000023" "g.227081812G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.226894111G>A" "" "VUS" ""
"0000242937" "0" "55" "1" "227071449" "227071449" "subst" "0.00856111" "02360" "PSEN2_000032" "g.227071449G>A" "" "" "" "" "Observed in 20 African control individuals of the Human Genome Diversity Panel. Does not segregate in an FTLD family.. /r/Point mutation in coding region predicting an amino acid substitution\"\"" "Unknown" "no" "rs58973334" "0" "" "" "g.226883748G>A" "" "VUS" ""
"0000242938" "0" "55" "1" "227071449" "227071449" "subst" "0.00856111" "02360" "PSEN2_000032" "g.227071449G>A" "" "" "" "" "Observed in 20 African control individuals of the Human Genome Diversity Panel. Does not segregate in an FTLD family.. /r/Point mutation in coding region predicting an amino acid substitution\"\"" "Unknown" "no" "rs58973334" "0" "" "" "g.226883748G>A" "" "VUS" ""
"0000242939" "0" "55" "1" "227071449" "227071449" "subst" "0.00856111" "02360" "PSEN2_000032" "g.227071449G>A" "" "" "" "" "Observed in 20 African control individuals of the Human Genome Diversity Panel. Does not segregate in an FTLD family.. /r/Point mutation in coding region predicting an amino acid substitution\"\"" "Unknown" "no" "rs58973334" "0" "" "" "g.226883748G>A" "" "VUS" ""
"0000242940" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242941" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242942" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242943" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242944" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242945" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242946" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242947" "0" "99" "1" "227073304" "227073304" "subst" "0" "02360" "PSEN2_000038" "g.227073304A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750215" "0" "" "" "g.226885603A>T" "" "pathogenic" ""
"0000242948" "0" "99" "1" "227073324" "227073324" "subst" "8.14458E-6" "02360" "PSEN2_000039" "g.227073324G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750812" "0" "" "" "g.226885623G>A" "" "pathogenic" ""
"0000242949" "0" "99" "1" "227076678" "227076678" "subst" "0" "02360" "PSEN2_000020" "g.227076678A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs28936379" "0" "" "" "g.226888977A>G" "" "pathogenic" ""
"0000243014" "0" "99" "1" "227073246" "227073246" "subst" "0" "02360" "PSEN2_000034" "g.227073246A>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63749851" "0" "" "" "g.226885545A>C" "" "pathogenic" ""
"0000243015" "0" "99" "1" "227073246" "227073246" "subst" "0" "02360" "PSEN2_000034" "g.227073246A>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63749851" "0" "" "" "g.226885545A>C" "" "pathogenic" ""
"0000243016" "0" "99" "1" "227076680" "227076680" "subst" "0" "02360" "PSEN2_000044" "g.227076680G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63749884" "0" "" "" "g.226888979G>A" "" "pathogenic" ""
"0000243162" "0" "99" "1" "227083249" "227083249" "subst" "4.49828E-5" "02360" "PSEN2_000046" "g.227083249A>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750110" "0" "" "" "g.226895548A>C" "" "pathogenic" ""
"0000243166" "0" "55" "1" "227073271" "227073271" "subst" "0.000650555" "02360" "PSEN2_000036" "g.227073271C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750197" "0" "" "" "g.226885570C>T" "" "VUS" ""
"0000243167" "0" "55" "1" "227073271" "227073271" "subst" "0.000650555" "02360" "PSEN2_000036" "g.227073271C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750197" "0" "" "" "g.226885570C>T" "" "VUS" ""
"0000243200" "0" "99" "1" "227083222" "227083222" "subst" "3.66584E-5" "02360" "PSEN2_000045" "g.227083222C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750666" "0" "" "" "g.226895521C>T" "" "pathogenic" ""
"0000243336" "0" "99" "1" "227076646" "227076646" "subst" "8.12209E-6" "02360" "PSEN2_000042" "g.227076646A>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "rs63750880" "0" "" "" "g.226888945A>T" "" "pathogenic" ""
"0000243549" "0" "99" "1" "227073247" "227073247" "subst" "0" "02360" "PSEN2_000035" "g.227073247C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs28936380" "0" "" "" "g.226885546C>G" "" "pathogenic" ""
"0000243591" "0" "99" "1" "227071518" "227071518" "subst" "4.06164E-6" "02360" "PSEN2_000033" "g.227071518C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "rs63750048" "0" "" "" "g.226883817C>T" "" "pathogenic" ""
"0000243690" "0" "55" "1" "227073297" "227073297" "subst" "0.000117899" "02360" "PSEN2_000037" "g.227073297G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226885596G>A" "" "VUS" ""
"0000243709" "0" "55" "1" "227081812" "227081812" "subst" "0.000109726" "02360" "PSEN2_000023" "g.227081812G>A" "" "" "" "" "Absent in 384 control individuals, but no significant effect on Aβ in vitro. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226894111G>A" "" "VUS" ""
"0000243722" "0" "99" "1" "227075813" "227075813" "subst" "0.000605027" "02360" "PSEN2_000040" "g.227075813A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226888112A>G" "" "pathogenic" ""
"0000243723" "0" "99" "1" "227075813" "227075813" "subst" "0.000605027" "02360" "PSEN2_000040" "g.227075813A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226888112A>G" "" "pathogenic" ""
"0000243724" "0" "55" "1" "227071475" "227071475" "subst" "0.00369281" "02360" "PSEN2_000021" "g.227071475C>T" "" "" "" "" "Observed in 3 AD patients and neurologically healthy individual.. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226883774C>T" "" "VUS" ""
"0000243725" "0" "55" "1" "227071475" "227071475" "subst" "0.00369281" "02360" "PSEN2_000021" "g.227071475C>T" "" "" "" "" "Observed in 3 AD patients and neurologically healthy individual.. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226883774C>T" "" "VUS" ""
"0000243726" "0" "55" "1" "227071475" "227071475" "subst" "0.00369281" "02360" "PSEN2_000021" "g.227071475C>T" "" "" "" "" "Observed in 3 AD patients and neurologically healthy individual.. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226883774C>T" "" "VUS" ""
"0000243728" "0" "99" "1" "227075817" "227075817" "subst" "0" "02360" "PSEN2_000041" "g.227075817C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.226888116C>G" "" "pathogenic" ""
"0000243729" "0" "99" "1" "227076655" "227076655" "subst" "4.06134E-6" "02360" "PSEN2_000043" "g.227076655A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226888954A>G" "" "pathogenic" ""
"0000243956" "0" "55" "1" "227071448" "227071448" "subst" "0.000207315" "02360" "PSEN2_000031" "g.227071448C>T" "" "" "" "" "Observed in 1 AD patient and 2 neurologically healty individuals.. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226883747C>T" "" "VUS" ""
"0000243957" "0" "55" "1" "227069708" "227069708" "subst" "0.000459652" "02360" "PSEN2_000030" "g.227069708G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.226882007G>A" "" "VUS" ""
"0000243962" "0" "15" "1" "225146097" "225146097" "subst" "0" "02360" "PSEN2_000029" "g.225146097C>G" "" "" "" "" "Not segregating with disease. Detected in 1/165 unrelated individuals.. /r/Point mutation in coding region predicting an amino acid substitution\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "rs63750207" "0" "" "" "" "" "benign" ""
"0000244033" "0" "15" "1" "225139933" "225139933" "subst" "0" "02360" "PSEN2_000026" "g.225139933T>A" "" "" "" "" "Observed in one African control individual of the Human Genome Diversity Panel. /r/Point mutation in coding region predicting an amino acid substitution\"\"\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000244034" "0" "15" "1" "225143340" "225143340" "subst" "0" "02360" "PSEN2_000028" "g.225143340G>A" "" "" "" "" "Observed in two African control individual of the Human Genome Diversity Panel. /r/Point mutation in coding region predicting an amino acid substitution\"\"\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000244036" "0" "15" "1" "225136317" "225136317" "subst" "0" "02360" "PSEN2_000025" "g.225136317G>A" "" "" "" "" "Observed in one African control individual of the Human Genome Diversity Panel. /r/Point mutation in coding region predicting an amino acid substitution\"\"\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000244037" "0" "15" "1" "225139993" "225139993" "subst" "0" "02360" "PSEN2_000027" "g.225139993G>A" "" "" "" "" "Observed in a Parkinsons disease patient with a mutation in the SNCA gene and unaffected mother. /r/Point mutation in coding region predicting an amino acid substitution\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" ""
"0000253739" "0" "10" "1" "227069779" "227069779" "subst" "0.00295748" "01943" "PSEN2_000049" "g.227069779A>G" "" "" "" "PSEN2(NM_000447.2):c.141+30A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226882078A>G" "" "benign" ""
"0000255994" "0" "50" "1" "227071580" "227071580" "subst" "0" "01943" "PSEN2_000072" "g.227071580A>G" "" "" "" "PSEN2(NM_000447.2):c.316A>G (p.I106V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883879A>G" "" "VUS" ""
"0000294546" "0" "10" "1" "227069737" "227069737" "subst" "0.502542" "02330" "PSEN2_000048" "g.227069737C>T" "" "" "" "PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226882036C>T" "" "benign" ""
"0000294547" "0" "10" "1" "227071449" "227071449" "subst" "0.00856111" "02330" "PSEN2_000032" "g.227071449G>A" "" "" "" "PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883748G>A" "" "benign" ""
"0000294548" "0" "10" "1" "227071525" "227071525" "subst" "0.502998" "02330" "PSEN2_000053" "g.227071525C>T" "" "" "" "PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883824C>T" "" "benign" ""
"0000294549" "0" "10" "1" "227069677" "227069677" "subst" "0.756917" "02330" "PSEN2_000047" "g.227069677T>C" "" "" "" "PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226881976T>C" "" "benign" ""
"0000297417" "0" "30" "1" "227081811" "227081811" "subst" "0.00121915" "02325" "PSEN2_000068" "g.227081811C>T" "" "" "" "PSEN2(NM_000447.3):c.1176C>T (p.F392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226894110C>T" "" "likely benign" ""
"0000297418" "0" "10" "1" "227069737" "227069737" "subst" "0.502542" "02325" "PSEN2_000048" "g.227069737C>T" "" "" "" "PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226882036C>T" "" "benign" ""
"0000297419" "0" "50" "1" "227071517" "227071517" "subst" "0" "02325" "PSEN2_000052" "g.227071517G>C" "" "" "" "PSEN2(NM_000447.3):c.253G>C (p.(Ala85Pro), p.A85P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883816G>C" "" "VUS" ""
"0000297420" "0" "10" "1" "227071525" "227071525" "subst" "0.502998" "02325" "PSEN2_000053" "g.227071525C>T" "" "" "" "PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883824C>T" "" "benign" ""
"0000297421" "0" "30" "1" "227071600" "227071600" "subst" "0.000379273" "02325" "PSEN2_000054" "g.227071600C>T" "" "" "" "PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883899C>T" "" "likely benign" ""
"0000297422" "0" "30" "1" "227073248" "227073248" "subst" "0.00107839" "02325" "PSEN2_000055" "g.227073248G>A" "" "" "" "PSEN2(NM_000447.2):c.366G>A (p.T122=), PSEN2(NM_000447.3):c.366G>A (p.T122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885547G>A" "" "likely benign" ""
"0000297423" "0" "50" "1" "227073271" "227073271" "subst" "0.000650555" "02325" "PSEN2_000036" "g.227073271C>T" "" "" "" "PSEN2(NM_000447.3):c.389C>T (p.S130L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885570C>T" "" "VUS" ""
"0000297424" "0" "30" "1" "227073305" "227073305" "subst" "0.00104902" "02325" "PSEN2_000056" "g.227073305C>T" "" "" "" "PSEN2(NM_000447.3):c.423C>T (p.N141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885604C>T" "" "likely benign" ""
"0000297425" "0" "30" "1" "227073323" "227073323" "subst" "0.00355014" "02325" "PSEN2_000057" "g.227073323C>T" "" "" "" "PSEN2(NM_000447.3):c.441C>T (p.S147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885622C>T" "" "likely benign" ""
"0000297426" "0" "30" "1" "227076569" "227076569" "subst" "0" "02325" "PSEN2_000059" "g.227076569C>G" "" "" "" "PSEN2(NM_000447.2):c.606C>G (p.P202=), PSEN2(NM_000447.3):c.606C>G (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226888868C>G" "" "likely benign" ""
"0000297427" "0" "30" "1" "227076653" "227076653" "subst" "0.000203059" "02325" "PSEN2_000060" "g.227076653C>G" "" "" "" "PSEN2(NM_000447.3):c.690C>G (p.A230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226888952C>G" "" "likely benign" ""
"0000297428" "0" "10" "1" "227069677" "227069677" "subst" "0.756917" "02325" "PSEN2_000047" "g.227069677T>C" "" "" "" "PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226881976T>C" "" "benign" ""
"0000297429" "0" "30" "1" "227076719" "227076719" "subst" "0.0055431" "02325" "PSEN2_000062" "g.227076719G>C" "" "" "" "PSEN2(NM_000447.2):c.756G>C (p.A252=), PSEN2(NM_000447.3):c.756G>C (p.A252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226889018G>C" "" "likely benign" ""
"0000299158" "0" "10" "1" "227069737" "227069737" "subst" "0.502542" "02329" "PSEN2_000048" "g.227069737C>T" "" "" "" "PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226882036C>T" "" "benign" ""
"0000299159" "0" "10" "1" "227071364" "227071364" "subst" "0.496618" "02329" "PSEN2_000050" "g.227071364G>A" "" "" "" "PSEN2(NM_000447.3):c.142-42G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883663G>A" "" "benign" ""
"0000299160" "0" "10" "1" "227071525" "227071525" "subst" "0.502998" "02329" "PSEN2_000053" "g.227071525C>T" "" "" "" "PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883824C>T" "" "benign" ""
"0000299161" "0" "30" "1" "227073248" "227073248" "subst" "0.00107839" "02329" "PSEN2_000055" "g.227073248G>A" "" "" "" "PSEN2(NM_000447.2):c.366G>A (p.T122=), PSEN2(NM_000447.3):c.366G>A (p.T122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885547G>A" "" "likely benign" ""
"0000299162" "0" "30" "1" "227073323" "227073323" "subst" "0.00355014" "02329" "PSEN2_000057" "g.227073323C>T" "" "" "" "PSEN2(NM_000447.3):c.441C>T (p.S147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885622C>T" "" "likely benign" ""
"0000299163" "0" "30" "1" "227076653" "227076653" "subst" "0.000203059" "02329" "PSEN2_000060" "g.227076653C>G" "" "" "" "PSEN2(NM_000447.3):c.690C>G (p.A230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226888952C>G" "" "likely benign" ""
"0000299164" "0" "10" "1" "227069677" "227069677" "subst" "0.756917" "02329" "PSEN2_000047" "g.227069677T>C" "" "" "" "PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226881976T>C" "" "benign" ""
"0000299165" "0" "10" "1" "227076671" "227076671" "subst" "0.0115118" "02329" "PSEN2_000061" "g.227076671T>C" "" "" "" "PSEN2(NM_000447.2):c.708T>C (p.(Ser236=)), PSEN2(NM_000447.3):c.708T>C (p.S236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226888970T>C" "" "benign" ""
"0000299166" "0" "10" "1" "227078995" "227078995" "subst" "0.00849951" "02329" "PSEN2_000066" "g.227078995G>T" "" "" "" "PSEN2(NM_000447.3):c.903G>T (p.T301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226891294G>T" "" "benign" ""
"0000301248" "0" "10" "1" "227071449" "227071449" "subst" "0.00856111" "02326" "PSEN2_000032" "g.227071449G>A" "" "" "" "PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883748G>A" "" "benign" ""
"0000306542" "0" "30" "1" "227081802" "227081802" "subst" "1.6252E-5" "01943" "PSEN2_000067" "g.227081802G>A" "" "" "" "PSEN2(NM_000447.2):c.1167G>A (p.L389=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226894101G>A" "" "likely benign" ""
"0000306543" "0" "50" "1" "227083143" "227083143" "subst" "4.07266E-6" "01943" "PSEN2_000069" "g.227083143C>G" "" "" "" "PSEN2(NM_000447.2):c.1210C>G (p.L404V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226895442C>G" "" "VUS" ""
"0000306544" "0" "10" "1" "227069737" "227069737" "subst" "0.502542" "01943" "PSEN2_000048" "g.227069737C>T" "" "" "" "PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226882036C>T" "" "benign" ""
"0000306545" "0" "10" "1" "227071383" "227071383" "subst" "0.0092558" "01943" "PSEN2_000051" "g.227071383C>T" "" "" "" "PSEN2(NM_000447.2):c.142-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883682C>T" "" "benign" ""
"0000306546" "0" "10" "1" "227071449" "227071449" "subst" "0.00856111" "01943" "PSEN2_000032" "g.227071449G>A" "" "" "" "PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883748G>A" "" "benign" ""
"0000306547" "0" "10" "1" "227071525" "227071525" "subst" "0.502998" "01943" "PSEN2_000053" "g.227071525C>T" "" "" "" "PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883824C>T" "" "benign" ""
"0000306548" "0" "30" "1" "227073248" "227073248" "subst" "0.00107839" "01943" "PSEN2_000055" "g.227073248G>A" "" "" "" "PSEN2(NM_000447.2):c.366G>A (p.T122=), PSEN2(NM_000447.3):c.366G>A (p.T122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885547G>A" "" "likely benign" ""
"0000306549" "0" "10" "1" "227073410" "227073410" "subst" "0.755844" "01943" "PSEN2_000058" "g.227073410G>C" "" "" "" "PSEN2(NM_000447.2):c.498+30G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226885709G>C" "" "benign" ""
"0000306550" "0" "30" "1" "227076569" "227076569" "subst" "0" "01943" "PSEN2_000059" "g.227076569C>G" "" "" "" "PSEN2(NM_000447.2):c.606C>G (p.P202=), PSEN2(NM_000447.3):c.606C>G (p.P202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226888868C>G" "" "likely benign" ""
"0000306551" "0" "10" "1" "227069677" "227069677" "subst" "0.756917" "01943" "PSEN2_000047" "g.227069677T>C" "" "" "" "PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226881976T>C" "" "benign" ""
"0000306552" "0" "50" "1" "227076735" "227076735" "subst" "0.000127108" "01943" "PSEN2_000063" "g.227076735G>A" "" "" "" "PSEN2(NM_000447.2):c.772G>A (p.A258T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226889034G>A" "" "VUS" ""
"0000306553" "0" "30" "1" "227077809" "227077809" "subst" "0.0171378" "01943" "PSEN2_000064" "g.227077809C>T" "" "" "" "PSEN2(NM_000447.2):c.861C>T (p.P287=), PSEN2(NM_000447.3):c.861C>T (p.P287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226890108C>T" "" "likely benign" ""
"0000306554" "0" "10" "1" "227078955" "227078955" "subst" "0.755642" "01943" "PSEN2_000065" "g.227078955T>C" "" "" "" "PSEN2(NM_000447.2):c.887-24T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226891254T>C" "" "benign" ""
"0000337535" "0" "10" "1" "227058344" "227058344" "subst" "0" "02327" "PSEN2_000070" "g.227058344A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226870643A>G" "" "benign" ""
"0000337536" "0" "10" "1" "227059037" "227059037" "subst" "0" "02327" "PSEN2_000071" "g.227059037C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226871336C>T" "" "benign" ""
"0000340634" "0" "10" "1" "227069677" "227069677" "subst" "0.756917" "02327" "PSEN2_000047" "g.227069677T>C" "" "" "" "PSEN2(NM_000447.2):c.69T>C (p.A23=), PSEN2(NM_000447.3):c.69T>C (p.A23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226881976T>C" "" "benign" ""
"0000340704" "0" "10" "1" "227069737" "227069737" "subst" "0.502542" "02327" "PSEN2_000048" "g.227069737C>T" "" "" "" "PSEN2(NM_000447.2):c.129C>T (p.N43=), PSEN2(NM_000447.3):c.129C>T (p.N43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226882036C>T" "" "benign" ""
"0000340813" "0" "10" "1" "227071525" "227071525" "subst" "0.502998" "02327" "PSEN2_000053" "g.227071525C>T" "" "" "" "PSEN2(NM_000447.2):c.261C>T (p.H87=), PSEN2(NM_000447.3):c.261C>T (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.226883824C>T" "" "benign" ""
"0000505718" "0" "30" "1" "227071449" "227071449" "subst" "0.00856111" "02329" "PSEN2_000032" "g.227071449G>A" "" "" "" "PSEN2(NM_000447.2):c.185G>A (p.R62H), PSEN2(NM_000447.3):c.185G>A (p.R62H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226883748G>A" "" "likely benign" ""
"0000505719" "0" "30" "1" "227071471" "227071471" "subst" "9.34526E-5" "02329" "PSEN2_000073" "g.227071471C>T" "" "" "" "PSEN2(NM_000447.3):c.207C>T (p.P69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226883770C>T" "" "likely benign" ""
"0000505720" "0" "50" "1" "227071475" "227071475" "subst" "0.00369281" "01943" "PSEN2_000021" "g.227071475C>T" "" "" "" "PSEN2(NM_000447.2):c.211C>T (p.R71W), PSEN2(NM_000447.3):c.211C>T (p.R71W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226883774C>T" "" "VUS" ""
"0000505721" "0" "30" "1" "227071475" "227071475" "subst" "0.00369281" "02326" "PSEN2_000021" "g.227071475C>T" "" "" "" "PSEN2(NM_000447.2):c.211C>T (p.R71W), PSEN2(NM_000447.3):c.211C>T (p.R71W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226883774C>T" "" "likely benign" ""
"0000505722" "0" "10" "1" "227071475" "227071475" "subst" "0.00369281" "02329" "PSEN2_000021" "g.227071475C>T" "" "" "" "PSEN2(NM_000447.2):c.211C>T (p.R71W), PSEN2(NM_000447.3):c.211C>T (p.R71W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226883774C>T" "" "benign" ""
"0000505723" "0" "30" "1" "227071600" "227071600" "subst" "0.000379273" "02329" "PSEN2_000054" "g.227071600C>T" "" "" "" "PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226883899C>T" "" "likely benign" ""
"0000505724" "0" "30" "1" "227073271" "227073271" "subst" "0.000650555" "02329" "PSEN2_000036" "g.227073271C>T" "" "" "" "PSEN2(NM_000447.3):c.389C>T (p.S130L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226885570C>T" "" "likely benign" ""
"0000505725" "0" "30" "1" "227076719" "227076719" "subst" "0.0055431" "02329" "PSEN2_000062" "g.227076719G>C" "" "" "" "PSEN2(NM_000447.2):c.756G>C (p.A252=), PSEN2(NM_000447.3):c.756G>C (p.A252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226889018G>C" "" "likely benign" ""
"0000505726" "0" "30" "1" "227077809" "227077809" "subst" "0.0171378" "02329" "PSEN2_000064" "g.227077809C>T" "" "" "" "PSEN2(NM_000447.2):c.861C>T (p.P287=), PSEN2(NM_000447.3):c.861C>T (p.P287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226890108C>T" "" "likely benign" ""
"0000505727" "0" "10" "1" "227081850" "227081850" "subst" "0.578947" "01943" "ADCK3_000042" "g.227081850G>A" "" "" "" "PSEN2(NM_000447.2):c.1191+24G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226894149G>A" "" "benign" ""
"0000604253" "0" "50" "1" "227069688" "227069688" "subst" "4.06474E-5" "01164" "PSEN2_000074" "g.227069688C>T" "" "" "" "" "ACMG: PM2" "Germline" "" "rs149354305" "0" "" "" "g.226881987C>T" "" "VUS" "ACMG"
"0000605231" "0" "30" "1" "227071600" "227071600" "subst" "0.000379273" "01943" "PSEN2_000054" "g.227071600C>T" "" "" "" "PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226883899C>T" "" "likely benign" ""
"0000605232" "0" "10" "1" "227081811" "227081811" "subst" "0.00121915" "02329" "PSEN2_000068" "g.227081811C>T" "" "" "" "PSEN2(NM_000447.3):c.1176C>T (p.F392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.226894110C>T" "" "benign" ""
"0000647599" "1" "90" "1" "227071518" "227071518" "subst" "4.06164E-6" "03575" "PSEN2_000033" "g.227071518C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs63750048}" "Germline" "" "rs63750048" "0" "" "" "g.226883817C>T" "" "pathogenic" ""
"0000647600" "1" "30" "1" "227076671" "227076671" "subst" "0.0115118" "03575" "PSEN2_000061" "g.227076671T>C" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs61730652}" "Germline" "" "rs61730652" "0" "" "" "g.226888970T>C" "" "likely benign" ""
"0000647601" "1" "90" "1" "227083222" "227083222" "subst" "3.66584E-5" "03575" "PSEN2_000045" "g.227083222C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs63750666}" "Germline" "" "rs63750666" "0" "" "" "g.226895521C>T" "" "pathogenic" ""
"0000717226" "0" "50" "1" "227071605" "227071605" "subst" "0" "02329" "PSEN2_000075" "g.227071605A>G" "" "" "" "PSEN2(NM_000447.3):c.341A>G (p.E114G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717227" "0" "30" "1" "227073239" "227073239" "subst" "0" "02329" "PSEN2_000076" "g.227073239C>T" "" "" "" "PSEN2(NM_000447.3):c.357C>T (p.L119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717228" "0" "50" "1" "227076673" "227076673" "subst" "5.28082E-5" "02329" "PSEN2_000077" "g.227076673C>T" "" "" "" "PSEN2(NM_000447.3):c.710C>T (p.A237V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717229" "0" "30" "1" "227076719" "227076719" "subst" "0.0055431" "01943" "PSEN2_000062" "g.227076719G>C" "" "" "" "PSEN2(NM_000447.2):c.756G>C (p.A252=), PSEN2(NM_000447.3):c.756G>C (p.A252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000848568" "0" "50" "1" "227083236" "227083236" "subst" "0.000134615" "01943" "ADCK3_000073" "g.227083236C>T" "" "" "" "PSEN2(NM_000447.2):c.1303C>T (p.R435W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883183" "0" "10" "1" "227076671" "227076671" "subst" "0.0115118" "01804" "PSEN2_000061" "g.227076671T>C" "" "" "" "PSEN2(NM_000447.2):c.708T>C (p.(Ser236=)), PSEN2(NM_000447.3):c.708T>C (p.S236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000883184" "0" "90" "1" "227076729" "227076729" "del" "0" "02329" "PSEN2_000078" "g.227076729del" "" "" "" "PSEN2(NM_000447.3):c.766delC (p.L256Wfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000947162" "0" "30" "1" "227071600" "227071600" "subst" "0.000379273" "02326" "PSEN2_000054" "g.227071600C>T" "" "" "" "PSEN2(NM_000447.2):c.336C>T (p.Y112=), PSEN2(NM_000447.3):c.336C>T (p.Y112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973728" "0" "50" "1" "227069587" "227069587" "subst" "0" "01804" "PSEN2_000079" "g.227069587A>T" "" "" "" "PSEN2(NM_000447.3):c.-20-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973729" "0" "50" "1" "227071517" "227071517" "subst" "0" "01804" "PSEN2_000052" "g.227071517G>C" "" "" "" "PSEN2(NM_000447.3):c.253G>C (p.(Ala85Pro), p.A85P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973730" "0" "50" "1" "227081798" "227081798" "subst" "0.000113767" "01804" "ADCK3_000084" "g.227081798C>T" "" "" "" "PSEN2(NM_000447.3):c.1163C>T (p.(Thr388Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990913" "0" "50" "1" "227083195" "227083195" "subst" "2.84722E-5" "01804" "ADCK3_000087" "g.227083195C>T" "" "" "" "PSEN2(NM_000447.2):c.1262C>T (p.(Thr421Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001011936" "0" "90" "1" "227073304" "227073304" "subst" "0" "00006" "PSEN2_000038" "g.227073304A>T" "" "{PMID:Salinas 2020:33084218}" "" "NM_012486:c.422A>T" "" "Unknown" "" "" "0" "" "" "g.226885603A>T" "RCV000009393.6" "pathogenic" ""
## 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 PSEN2
## Count = 120
"{{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}}"
"0000061763" "00016998" "90" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Met239Val)" "8"
"0000087461" "00016998" "50" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "5"
"0000087462" "00016998" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Trp)" "5"
"0000087463" "00016998" "50" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Cys)" "6"
"0000087464" "00016998" "50" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Val393Met)" "12"
"0000242937" "00016998" "55" "185" "0" "185" "0" "c.(185G>A)" "r.(?)" "p.(Arg62His)" "4"
"0000242938" "00016998" "55" "185" "0" "185" "0" "c.(185G>A)" "r.(?)" "p.(Arg62His)" "4"
"0000242939" "00016998" "55" "185" "0" "185" "0" "c.(185G>A)" "r.(?)" "p.(Arg62His)" "4"
"0000242940" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242941" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242942" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242943" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242944" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242945" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242946" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242947" "00016998" "99" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" "5"
"0000242948" "00016998" "99" "442" "0" "442" "0" "c.(442G>A)" "r.(?)" "p.(Val148Ile)" "5"
"0000242949" "00016998" "99" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Met239Val)" "7"
"0000243014" "00016998" "99" "364" "0" "364" "0" "c.(364A>C)" "r.(?)" "p.(Thr122Pro)" "5"
"0000243015" "00016998" "99" "364" "0" "364" "0" "c.(364A>C)" "r.(?)" "p.(Thr122Pro)" "5"
"0000243016" "00016998" "99" "717" "0" "717" "0" "c.(717G>A)" "r.(?)" "p.(Met239Ile)" "7"
"0000243162" "00016998" "99" "1316" "0" "1316" "0" "c.(1316A>C)" "r.(?)" "p.(Asp439Ala)" "12"
"0000243166" "00016998" "55" "389" "0" "389" "0" "c.(389C>T)" "r.(?)" "p.(Ser130Leu)" "5"
"0000243167" "00016998" "55" "389" "0" "389" "0" "c.(389C>T)" "r.(?)" "p.(Ser130Leu)" "5"
"0000243200" "00016998" "99" "1289" "0" "1289" "0" "c.(1289C>T)" "r.(?)" "p.(Thr430Met)" "12"
"0000243336" "00016998" "99" "683" "0" "683" "0" "c.(683A>T)" "r.(?)" "p.(Gln228Leu)" "7"
"0000243549" "00016998" "99" "365" "0" "365" "0" "c.(365C>G)" "r.(?)" "p.(Thr122Arg)" "5"
"0000243591" "00016998" "99" "254" "0" "254" "0" "c.(254C>T)" "r.(?)" "p.(Ala85Val)" "4"
"0000243690" "00016998" "55" "415" "0" "415" "0" "c.(415G>A)" "r.(?)" "p.(Val139Met)" "5"
"0000243709" "00016998" "55" "1177" "0" "1177" "0" "c.(1177G>A)" "r.(?)" "p.(Val393Met)" "11"
"0000243722" "00016998" "99" "520" "0" "520" "0" "c.(520A>G)" "r.(?)" "p.(Met174Val)" "6"
"0000243723" "00016998" "99" "520" "0" "520" "0" "c.(520A>G)" "r.(?)" "p.(Met174Val)" "6"
"0000243724" "00016998" "55" "211" "0" "211" "0" "c.(211C>T)" "r.(?)" "p.(Arg71Trp)" "4"
"0000243725" "00016998" "55" "211" "0" "211" "0" "c.(211C>T)" "r.(?)" "p.(Arg71Trp)" "4"
"0000243726" "00016998" "55" "211" "0" "211" "0" "c.(211C>T)" "r.(?)" "p.(Arg71Trp)" "4"
"0000243728" "00016998" "99" "524" "0" "524" "0" "c.(524C>G)" "r.(?)" "p.(Ser175Cys)" "6"
"0000243729" "00016998" "99" "692" "0" "692" "0" "c.(692A>G)" "r.(?)" "p.(Tyr231Cys)" "7"
"0000243956" "00016998" "55" "184" "0" "184" "0" "c.(184C>T)" "r.(?)" "p.(Arg62Cys)" "4"
"0000243957" "00016998" "55" "100" "0" "100" "0" "c.(100G>A)" "r.(?)" "p.(Gly34Ser)" "3"
"0000243962" "00016998" "15" "1001" "0" "1001" "0" "c.(1001C>G)" "r.(?)" "p.(Pro334Arg)" "10"
"0000244033" "00016998" "15" "428" "0" "428" "0" "c.(428T>A)" "r.(?)" "p.(Leu143His)" "5"
"0000244034" "00016998" "15" "754" "0" "754" "0" "c.(754G>A)" "r.(?)" "p.(Ala252Thr)" "7"
"0000244036" "00016998" "15" "86" "0" "86" "0" "c.(86G>A)" "r.(?)" "p.(Arg29His)" "3"
"0000244037" "00016998" "15" "488" "0" "488" "0" "c.(488G>A)" "r.(?)" "p.(Arg163His)" "5"
"0000253739" "00016998" "10" "141" "30" "141" "30" "c.141+30A>G" "r.(=)" "p.(=)" ""
"0000255994" "00016998" "50" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ile106Val)" ""
"0000294546" "00016998" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Asn43=)" ""
"0000294547" "00016998" "10" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000294548" "00016998" "10" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(His87=)" ""
"0000294549" "00016998" "10" "69" "0" "69" "0" "c.69T>C" "r.(?)" "p.(Ala23=)" ""
"0000297417" "00016998" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Phe392=)" ""
"0000297418" "00016998" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Asn43=)" ""
"0000297419" "00016998" "50" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Ala85Pro)" ""
"0000297420" "00016998" "10" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(His87=)" ""
"0000297421" "00016998" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Tyr112=)" ""
"0000297422" "00016998" "30" "366" "0" "366" "0" "c.366G>A" "r.(?)" "p.(Thr122=)" ""
"0000297423" "00016998" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Ser130Leu)" ""
"0000297424" "00016998" "30" "423" "0" "423" "0" "c.423C>T" "r.(?)" "p.(Asn141=)" ""
"0000297425" "00016998" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Ser147=)" ""
"0000297426" "00016998" "30" "606" "0" "606" "0" "c.606C>G" "r.(?)" "p.(Pro202=)" ""
"0000297427" "00016998" "30" "690" "0" "690" "0" "c.690C>G" "r.(?)" "p.(Ala230=)" ""
"0000297428" "00016998" "10" "69" "0" "69" "0" "c.69T>C" "r.(?)" "p.(Ala23=)" ""
"0000297429" "00016998" "30" "756" "0" "756" "0" "c.756G>C" "r.(?)" "p.(Ala252=)" ""
"0000299158" "00016998" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Asn43=)" ""
"0000299159" "00016998" "10" "142" "-42" "142" "-42" "c.142-42G>A" "r.(=)" "p.(=)" ""
"0000299160" "00016998" "10" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(His87=)" ""
"0000299161" "00016998" "30" "366" "0" "366" "0" "c.366G>A" "r.(?)" "p.(Thr122=)" ""
"0000299162" "00016998" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Ser147=)" ""
"0000299163" "00016998" "30" "690" "0" "690" "0" "c.690C>G" "r.(?)" "p.(Ala230=)" ""
"0000299164" "00016998" "10" "69" "0" "69" "0" "c.69T>C" "r.(?)" "p.(Ala23=)" ""
"0000299165" "00016998" "10" "708" "0" "708" "0" "c.708T>C" "r.(?)" "p.(Ser236=)" ""
"0000299166" "00016998" "10" "903" "0" "903" "0" "c.903G>T" "r.(?)" "p.(Thr301=)" ""
"0000301248" "00016998" "10" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000306542" "00016998" "30" "1167" "0" "1167" "0" "c.1167G>A" "r.(?)" "p.(Leu389=)" ""
"0000306543" "00016998" "50" "1210" "0" "1210" "0" "c.1210C>G" "r.(?)" "p.(Leu404Val)" ""
"0000306544" "00016998" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Asn43=)" ""
"0000306545" "00016998" "10" "142" "-23" "142" "-23" "c.142-23C>T" "r.(=)" "p.(=)" ""
"0000306546" "00016998" "10" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000306547" "00016998" "10" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(His87=)" ""
"0000306548" "00016998" "30" "366" "0" "366" "0" "c.366G>A" "r.(?)" "p.(Thr122=)" ""
"0000306549" "00016998" "10" "498" "30" "498" "30" "c.498+30G>C" "r.(=)" "p.(=)" ""
"0000306550" "00016998" "30" "606" "0" "606" "0" "c.606C>G" "r.(?)" "p.(Pro202=)" ""
"0000306551" "00016998" "10" "69" "0" "69" "0" "c.69T>C" "r.(?)" "p.(Ala23=)" ""
"0000306552" "00016998" "50" "772" "0" "772" "0" "c.772G>A" "r.(?)" "p.(Ala258Thr)" ""
"0000306553" "00016998" "30" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Pro287=)" ""
"0000306554" "00016998" "10" "887" "-24" "887" "-24" "c.887-24T>C" "r.(=)" "p.(=)" ""
"0000337535" "00016998" "10" "-356" "0" "-356" "0" "c.-356A>G" "r.(?)" "p.(=)" ""
"0000337536" "00016998" "10" "-275" "0" "-275" "0" "c.-275C>T" "r.(?)" "p.(=)" ""
"0000340634" "00016998" "10" "69" "0" "69" "0" "c.69T>C" "r.(?)" "p.(Ala23=)" ""
"0000340704" "00016998" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Asn43=)" ""
"0000340813" "00016998" "10" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(His87=)" ""
"0000505718" "00016998" "30" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Arg62His)" ""
"0000505719" "00016998" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Pro69=)" ""
"0000505720" "00016998" "50" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Trp)" ""
"0000505721" "00016998" "30" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Trp)" ""
"0000505722" "00016998" "10" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Arg71Trp)" ""
"0000505723" "00016998" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Tyr112=)" ""
"0000505724" "00016998" "30" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Ser130Leu)" ""
"0000505725" "00016998" "30" "756" "0" "756" "0" "c.756G>C" "r.(?)" "p.(Ala252=)" ""
"0000505726" "00016998" "30" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Pro287=)" ""
"0000505727" "00016998" "10" "1191" "24" "1191" "24" "c.1191+24G>A" "r.(=)" "p.(=)" ""
"0000604253" "00016998" "50" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.(Thr27Met)" ""
"0000605231" "00016998" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Tyr112=)" ""
"0000605232" "00016998" "10" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Phe392=)" ""
"0000647599" "00016998" "90" "254" "0" "254" "0" "c.254C>T" "r.(?)" "p.(Ala85Val)" ""
"0000647600" "00016998" "30" "708" "0" "708" "0" "c.708T>C" "r.(=)" "p.(=)" ""
"0000647601" "00016998" "90" "1289" "0" "1289" "0" "c.1289C>T" "r.(?)" "p.(Thr430Met)" ""
"0000717226" "00016998" "50" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Glu114Gly)" ""
"0000717227" "00016998" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Leu119=)" ""
"0000717228" "00016998" "50" "710" "0" "710" "0" "c.710C>T" "r.(?)" "p.(Ala237Val)" ""
"0000717229" "00016998" "30" "756" "0" "756" "0" "c.756G>C" "r.(?)" "p.(Ala252=)" ""
"0000848568" "00016998" "50" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Arg435Trp)" ""
"0000883183" "00016998" "10" "708" "0" "708" "0" "c.708T>C" "r.(?)" "p.(Ser236=)" ""
"0000883184" "00016998" "90" "766" "0" "766" "0" "c.766del" "r.(?)" "p.(Leu256Trpfs*19)" ""
"0000947162" "00016998" "30" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.(Tyr112=)" ""
"0000973728" "00016998" "50" "-20" "-2" "-20" "-2" "c.-20-2A>T" "r.spl?" "p.?" ""
"0000973729" "00016998" "50" "253" "0" "253" "0" "c.253G>C" "r.(?)" "p.(Ala85Pro)" ""
"0000973730" "00016998" "50" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Thr388Met)" ""
"0000990913" "00016998" "50" "1262" "0" "1262" "0" "c.1262C>T" "r.(?)" "p.(Thr421Met)" ""
"0001011936" "00016998" "90" "422" "0" "422" "0" "c.422A>T" "r.(?)" "p.(Asn141Ile)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 44
"{{screeningid}}" "{{variantid}}"
"0000034644" "0000061763"
"0000057173" "0000087461"
"0000057174" "0000087462"
"0000057175" "0000087463"
"0000057176" "0000087464"
"0000149436" "0000242937"
"0000149500" "0000242949"
"0000149501" "0000242940"
"0000149502" "0000242941"
"0000149503" "0000242942"
"0000149504" "0000242943"
"0000149505" "0000242944"
"0000149506" "0000242945"
"0000149507" "0000242946"
"0000149519" "0000242948"
"0000149558" "0000243014"
"0000149559" "0000243016"
"0000149667" "0000243162"
"0000149686" "0000243166"
"0000149741" "0000243200"
"0000149857" "0000243336"
"0000149898" "0000243015"
"0000149899" "0000242947"
"0000150048" "0000243549"
"0000150084" "0000243167"
"0000150094" "0000243591"
"0000150216" "0000243690"
"0000150255" "0000243709"
"0000150286" "0000243722"
"0000150287" "0000243724"
"0000150290" "0000243728"
"0000150291" "0000243729"
"0000150301" "0000243723"
"0000150513" "0000242938"
"0000150526" "0000242939"
"0000150527" "0000243725"
"0000150528" "0000243957"
"0000150529" "0000243956"
"0000150530" "0000243726"
"0000270491" "0000604253"
"0000290910" "0000647599"
"0000290911" "0000647600"
"0000290912" "0000647601"
"0000457433" "0001011936"