### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PLD3) # 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}}" "PLD3" "phospholipase D family, member 3" "19" "q13.2" "unknown" "NC_000019.9" "UD_132464827613" "" "http://www.LOVD.nl/PLD3" "" "1" "17158" "23646" "615698" "1" "1" "1" "1" "LUMC reference\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PLD3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-06 21:31:38" "00000" "2025-11-01 13:22:20" ## 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}}" "00016316" "PLD3" "transcript variant 1" "002" "NM_001031696.2" "" "NP_001026866.1" "" "" "" "-398" "1783" "1473" "40854332" "40884390" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "04058" "AD19" "Alzheimer disease, late onset, susceptibility to, type 19 (AD-19)" "" "615711" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06427" "SCA46" "?Spinocerebellar ataxia 46" "AD" "617770" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PLD3" "04058" "PLD3" "06427" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00046907" "" "" "" "2" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046908" "" "" "" "8" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases" "" "" "" "" "0" "" "" "" "" "00046909" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases" "" "" "" "" "0" "" "" "European" "" "00046910" "" "" "" "2" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046911" "" "" "" "2" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046912" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046913" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046914" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046916" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046917" "" "" "" "10" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046918" "" "" "" "6" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases" "" "" "" "" "0" "" "" "European" "" "00046919" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046920" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046921" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases" "" "" "" "" "0" "" "" "European" "" "00046939" "" "" "" "4" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases" "" "" "" "" "0" "" "" "European" "" "00046940" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046941" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046942" "" "" "" "8" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases" "" "" "" "" "0" "" "" "European" "" "00046943" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046944" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046945" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046946" "" "" "" "2" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046947" "" "" "" "3" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046948" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "" "" "0" "" "" "European" "" "00046949" "" "" "" "31" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases" "" "" "" "" "0" "" "" "European" "" "00248092" "" "" "" "3" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 3056 controls" "" "" "" "" "0" "" "" "European" "" "00248093" "" "" "" "3" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 3056 controls" "" "" "" "" "0" "" "" "European" "" "00248094" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "Sweden" "" "0" "" "" "European" "" "00248095" "" "" "" "1" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 2464 AD cases and 3056 controls" "" "" "Belgium" "" "0" "" "" "European" "" "00248096" "" "" "" "3" "" "01370" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "analysis 3056 controls" "" "" "" "" "0" "" "" "European" "" "00292119" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 31 "{{individualid}}" "{{diseaseid}}" "00046907" "00000" "00046908" "00204" "00046909" "00204" "00046910" "00204" "00046911" "00204" "00046912" "00204" "00046913" "00204" "00046914" "00204" "00046916" "00000" "00046917" "00000" "00046918" "00204" "00046919" "00000" "00046920" "00000" "00046921" "00204" "00046939" "00204" "00046940" "00204" "00046941" "00000" "00046942" "00204" "00046943" "00000" "00046944" "00000" "00046945" "00204" "00046946" "00204" "00046947" "00000" "00046948" "00000" "00046949" "00204" "00248092" "00000" "00248093" "00000" "00248094" "00000" "00248095" "00204" "00248096" "00000" "00292119" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00204, 04058, 06427 ## Count = 2 "{{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}}" "0000034316" "00204" "00046908" "01370" "Unknown" "" "Early-onset Alzheimer disease" "" "" "" "" "" "" "" "" "" "" "" "0000034319" "00204" "00046945" "01370" "Unknown" "" "Alzheimer disease" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000047016" "00046907" "1" "01370" "01370" "2015-07-28 15:40:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047017" "00046908" "1" "01370" "01370" "2015-07-28 15:49:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047018" "00046909" "1" "01370" "01370" "2015-07-28 15:57:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047019" "00046910" "1" "01370" "01370" "2015-07-28 16:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047020" "00046911" "1" "01370" "01370" "2015-07-28 16:15:27" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047021" "00046912" "1" "01370" "01370" "2015-07-28 16:24:09" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047022" "00046913" "1" "01370" "01370" "2015-07-28 16:45:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047023" "00046914" "1" "01370" "01370" "2015-07-28 16:49:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047025" "00046916" "1" "01370" "01370" "2015-07-28 18:36:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047026" "00046917" "1" "01370" "01370" "2015-07-28 18:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047027" "00046918" "1" "01370" "01370" "2015-07-28 18:46:16" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047028" "00046919" "1" "01370" "01370" "2015-07-28 18:49:39" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047029" "00046920" "1" "01370" "01370" "2015-07-29 09:01:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047030" "00046921" "1" "01370" "01370" "2015-07-29 09:05:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047048" "00046939" "1" "01370" "01370" "2015-07-29 10:22:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047049" "00046940" "1" "01370" "01370" "2015-07-29 10:25:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047050" "00046941" "1" "01370" "01370" "2015-07-29 10:28:10" "" "" "SEQ" "DNA" "" "" "0000047051" "00046942" "1" "01370" "01370" "2015-07-29 10:31:32" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047052" "00046943" "1" "01370" "01370" "2015-07-29 10:35:38" "" "" "SEQ" "DNA" "" "" "0000047053" "00046944" "1" "01370" "01370" "2015-07-29 10:38:22" "" "" "SEQ" "DNA" "" "" "0000047054" "00046945" "1" "01370" "01370" "2015-07-29 10:51:00" "" "" "SEQ" "DNA" "" "" "0000047055" "00046946" "1" "01370" "01370" "2015-07-29 10:58:03" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047056" "00046947" "1" "01370" "01370" "2015-07-29 11:01:23" "" "" "SEQ" "DNA" "" "" "0000047057" "00046948" "1" "01370" "01370" "2015-07-29 11:04:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000047058" "00046949" "1" "01370" "01370" "2015-07-29 11:08:17" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249197" "00248092" "1" "01370" "01370" "2015-07-28 15:40:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249198" "00248093" "1" "01370" "01370" "2015-07-28 15:49:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249199" "00248094" "1" "01370" "01370" "2015-07-28 15:57:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000249200" "00248095" "1" "01370" "01370" "2015-07-28 16:11:17" "00006" "2019-07-19 10:34:31" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000249201" "00248096" "1" "01370" "01370" "2015-07-28 16:15:27" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293287" "00292119" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{geneid}}" "0000047016" "PLD3" "0000047017" "PLD3" "0000047018" "PLD3" "0000047019" "PLD3" "0000047020" "PLD3" "0000047021" "PLD3" "0000047022" "PLD3" "0000047023" "PLD3" "0000047025" "PLD3" "0000047026" "PLD3" "0000047027" "PLD3" "0000047028" "PLD3" "0000047029" "PLD3" "0000047030" "PLD3" "0000047048" "PLD3" "0000047049" "PLD3" "0000047050" "PLD3" "0000047051" "PLD3" "0000047052" "PLD3" "0000047053" "PLD3" "0000047054" "PLD3" "0000047055" "PLD3" "0000047056" "PLD3" "0000047057" "PLD3" "0000047058" "PLD3" "0000249197" "PLD3" "0000249198" "PLD3" "0000249199" "PLD3" "0000249200" "PLD3" "0000249201" "PLD3" ## 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 = 44 "{{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}}" "0000075681" "0" "50" "19" "40872764" "40872764" "subst" "0.00101606" "01370" "PLD3_000001" "g.40872764G>A" "2/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs142070038" "0" "" "" "g.40366857G>A" "" "VUS" "" "0000075682" "0" "50" "19" "40872764" "40872764" "subst" "0.00101606" "01370" "PLD3_000001" "g.40872764G>A" "8/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs142070038" "0" "" "" "g.40366857G>A" "" "VUS" "" "0000075683" "0" "50" "19" "40872803" "40872803" "subst" "0.000958472" "01370" "PLD3_000021" "g.40872803C>G" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs138674695" "0" "" "" "g.40366896C>G" "" "VUS" "" "0000075684" "0" "50" "19" "40875860" "40875860" "subst" "0.000254034" "01370" "PLD3_000020" "g.40875860G>A" "2/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "rs374184677" "0" "" "" "g.40369953G>A" "" "VUS" "" "0000075685" "0" "50" "19" "40875869" "40875869" "subst" "0" "01370" "PLD3_000016" "g.40875869C>T" "2/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "" "0" "" "" "g.40369962C>T" "" "VUS" "" "0000075686" "0" "50" "19" "40875902" "40875902" "subst" "0" "01370" "PLD3_000017" "g.40875902C>T" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "" "0" "" "" "g.40369995C>T" "" "VUS" "" "0000075687" "0" "50" "19" "40875909" "40875909" "subst" "6.28646E-6" "01370" "PLD3_000018" "g.40875909C>G" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "" "0" "" "" "g.40370002C>G" "" "VUS" "" "0000075688" "0" "50" "19" "40876028" "40876028" "subst" "0" "01370" "PLD3_000019" "g.40876028C>T" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "" "0" "" "" "g.40370121C>T" "" "VUS" "" "0000075689" "0" "50" "19" "40876131" "40876131" "subst" "2.85532E-5" "01370" "PLD3_000009" "g.40876131G>A" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 2464 AD cases" "Germline" "" "" "0" "" "" "g.40370224G>A" "" "VUS" "" "0000075690" "0" "10" "19" "40877595" "40877595" "subst" "0.00311014" "01370" "PLD3_000010" "g.40877595G>A" "10/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs145999145" "0" "" "" "g.40371688G>A" "" "benign" "" "0000075691" "0" "10" "19" "40877595" "40877595" "subst" "0.00311014" "01370" "PLD3_000010" "g.40877595G>A" "6/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs145999145" "0" "" "" "g.40371688G>A" "" "benign" "" "0000075692" "0" "50" "19" "40877626" "40877626" "subst" "4.06458E-5" "01370" "PLD3_000011" "g.40877626G>A" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 2464 AD cases" "Germline" "" "" "0" "" "" "g.40371719G>A" "" "VUS" "" "0000075693" "0" "50" "19" "40877647" "40877647" "subst" "8.1248E-6" "01370" "PLD3_000012" "g.40877647A>G" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 2464 AD cases" "Germline" "" "" "0" "" "" "g.40371740A>G" "" "VUS" "" "0000075694" "0" "50" "19" "40877715" "40877715" "subst" "0.000101524" "01370" "PLD3_000013" "g.40877715C>T" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs144312764" "0" "" "" "g.40371808C>T" "" "VUS" "" "0000075712" "0" "50" "19" "40877752" "40877752" "subst" "0.000373665" "01370" "PLD3_000014" "g.40877752A>G" "4/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs200274020" "0" "" "" "g.40371845A>G" "" "VUS" "" "0000075713" "0" "50" "19" "40877779" "40877779" "subst" "1.62725E-5" "01370" "PLD3_000015" "g.40877779C>T" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "rs368737000" "0" "" "" "g.40371872C>T" "" "VUS" "" "0000075714" "0" "50" "19" "40880398" "40880398" "subst" "0" "01370" "PLD3_000006" "g.40880398C>T" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 2464 AD cases" "Germline" "" "" "0" "" "" "g.40374491C>T" "" "VUS" "" "0000075715" "0" "50" "19" "40880407" "40880407" "subst" "0.000857654" "01370" "PLD3_000007" "g.40880407G>A" "8/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs146083475" "0" "" "" "g.40374500G>A" "" "VUS" "" "0000075716" "0" "50" "19" "40880431" "40880431" "subst" "0" "01370" "PLD3_000008" "g.40880431T>C" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 2464 AD cases" "Germline" "" "" "0" "" "" "g.40374524T>C" "" "VUS" "" "0000075718" "0" "50" "19" "40882568" "40882568" "subst" "5.8244E-5" "01370" "PLD3_000002" "g.40882568G>A" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "rs370488565" "0" "" "" "g.40376661G>A" "" "VUS" "" "0000075719" "0" "50" "19" "40883783" "40883783" "subst" "6.50111E-5" "01370" "PLD3_000003" "g.40883783A>G" "2/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "" "0" "" "" "g.40377876A>G" "" "VUS" "" "0000075721" "0" "50" "19" "40883792" "40883792" "subst" "4.06448E-6" "01370" "PLD3_000004" "g.40883792G>A" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 2464 AD cases" "Germline" "" "" "0" "" "" "g.40377885G>A" "" "VUS" "" "0000075722" "0" "10" "19" "40883933" "40883933" "subst" "0.01341" "01370" "PLD3_000005" "g.40883933G>A" "31/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs4819" "0" "" "" "g.40378026G>A" "" "benign" "" "0000305843" "0" "30" "19" "40877595" "40877595" "subst" "0.00311014" "01943" "PLD3_000010" "g.40877595G>A" "" "" "" "PLD3(NM_012268.3):c.694G>A (p.V232M), PLD3(NM_012268.4):c.694G>A (p.V232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40371688G>A" "" "likely benign" "" "0000567367" "0" "30" "19" "40872540" "40872540" "subst" "0.00160395" "01943" "C19orf47_000002" "g.40872540C>T" "" "" "" "PLD3(NM_012268.3):c.51C>T (p.P17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40366633C>T" "" "likely benign" "" "0000567368" "0" "30" "19" "40875810" "40875810" "subst" "0.45127" "01943" "C19orf47_000003" "g.40875810C>G" "" "" "" "PLD3(NM_012268.3):c.430-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40369903C>G" "" "likely benign" "" "0000567369" "0" "50" "19" "40880407" "40880407" "subst" "0.000857654" "01943" "PLD3_000007" "g.40880407G>A" "" "" "" "PLD3(NM_012268.3):c.899G>A (p.C300Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40374500G>A" "" "VUS" "" "0000567370" "0" "50" "19" "40882548" "40882548" "subst" "0.000153449" "01943" "C19orf47_000004" "g.40882548G>A" "" "" "" "PLD3(NM_012268.3):c.1052G>A (p.R351Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40376641G>A" "" "VUS" "" "0000577920" "0" "50" "19" "40872803" "40872803" "subst" "0.000958472" "01370" "PLD3_000021" "g.40872803C>G" "3/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs138674695" "0" "" "" "g.40366896C>G" "" "VUS" "" "0000577921" "0" "50" "19" "40877715" "40877715" "subst" "0.000101524" "01370" "PLD3_000013" "g.40877715C>T" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs144312764" "0" "" "" "g.40371808C>T" "" "VUS" "" "0000577922" "0" "50" "19" "40877752" "40877752" "subst" "0.000373665" "01370" "PLD3_000014" "g.40877752A>G" "3/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs200274020" "0" "" "" "g.40371845A>G" "" "VUS" "" "0000577923" "0" "50" "19" "40880407" "40880407" "subst" "0.000857654" "01370" "PLD3_000007" "g.40880407G>A" "3/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs146083475" "0" "" "" "g.40374500G>A" "" "VUS" "" "0000577924" "0" "70" "19" "40880529" "40880529" "subst" "4.06583E-6" "01370" "PLD3_000022" "g.40880529T>A" "1/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 2464 AD cases" "Germline" "" "" "0" "" "" "g.40374622T>A" "" "VUS" "" "0000577925" "0" "70" "19" "40883793" "40883793" "subst" "0" "01370" "PLD3_000023" "g.40883793G>A" "1/2464 AD cases" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "not in 3056 controls" "Germline" "" "" "0" "" "" "g.40377886G>A" "" "VUS" "" "0000577926" "0" "10" "19" "40883933" "40883933" "subst" "0.01341" "01370" "PLD3_000005" "g.40883933G>A" "31/3056 controls" "{PMID:Cacace 2015:26411346}, {DOI:Cacace 2015:10.1002/humu.22908}" "" "" "" "Germline" "" "rs4819" "0" "" "" "g.40378026G>A" "" "benign" "" "0000617618" "0" "50" "19" "40877595" "40877595" "subst" "0.00311014" "02325" "PLD3_000010" "g.40877595G>A" "" "" "" "PLD3(NM_012268.3):c.694G>A (p.V232M), PLD3(NM_012268.4):c.694G>A (p.V232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40371688G>A" "" "VUS" "" "0000624005" "0" "30" "19" "40872764" "40872764" "subst" "0.00101606" "01943" "PLD3_000001" "g.40872764G>A" "" "" "" "PLD3(NM_012268.3):c.187G>A (p.G63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40366857G>A" "" "likely benign" "" "0000624006" "0" "30" "19" "40882567" "40882567" "subst" "0.00114908" "01943" "C19orf47_000005" "g.40882567C>T" "" "" "" "PLD3(NM_012268.3):c.1071C>T (p.G357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40376660C>T" "" "likely benign" "" "0000649976" "1" "50" "19" "40877595" "40877595" "subst" "0.00311014" "03575" "PLD3_000010" "g.40877595G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs145999145}" "Germline" "" "rs145999145" "0" "" "" "g.40371688G>A" "" "VUS" "" "0000681412" "0" "30" "19" "40875856" "40875856" "subst" "0.000253077" "01943" "C19orf47_000006" "g.40875856G>A" "" "" "" "PLD3(NM_012268.3):c.471G>A (p.K157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926887" "0" "90" "19" "40880431" "40880431" "subst" "0" "02325" "PLD3_000008" "g.40880431T>C" "" "" "" "PLD3(NM_012268.4):c.923T>C (p.L308P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969756" "0" "30" "19" "40872714" "40872714" "subst" "4.0623E-6" "02327" "C19orf47_000007" "g.40872714C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004781" "0" "30" "19" "40872803" "40872803" "subst" "0.000958472" "02325" "PLD3_000021" "g.40872803C>G" "" "" "" "PLD3(NM_012268.4):c.226C>G (p.P76A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056668" "0" "30" "19" "40880407" "40880407" "subst" "0.000857654" "02327" "PLD3_000007" "g.40880407G>A" "" "" "" "PLD3(NM_012268.3):c.899G>A (p.C300Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 PLD3 ## Count = 44 "{{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}}" "0000075681" "00016316" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Ser)" "" "0000075682" "00016316" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Ser)" "5" "0000075683" "00016316" "50" "226" "0" "226" "0" "c.226C>G" "r.(?)" "p.(Pro76Ala)" "" "0000075684" "00016316" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Val159Met)" "" "0000075685" "00016316" "50" "484" "0" "484" "0" "c.484C>T" "r.(?)" "p.(Arg162Cys)" "" "0000075686" "00016316" "50" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Pro173Ser)" "" "0000075687" "00016316" "50" "524" "0" "524" "0" "c.524C>G" "r.(?)" "p.(Ala175Gly)" "" "0000075688" "00016316" "50" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000075689" "00016316" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222His)" "" "0000075690" "00016316" "10" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Val232Met)" "" "0000075691" "00016316" "10" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Val232Met)" "" "0000075692" "00016316" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242Gln)" "" "0000075693" "00016316" "50" "746" "0" "746" "0" "c.746A>G" "r.(?)" "p.(Glu249Gly)" "" "0000075694" "00016316" "50" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000075712" "00016316" "50" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(Asn284Ser)" "" "0000075713" "00016316" "50" "878" "0" "878" "0" "c.878C>T" "r.(?)" "p.(Ala293Val)" "" "0000075714" "00016316" "50" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Pro297Leu)" "" "0000075715" "00016316" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Cys300Tyr)" "" "0000075716" "00016316" "50" "923" "0" "923" "0" "c.923T>C" "r.(?)" "p.(Leu308Pro)" "" "0000075718" "00016316" "50" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Val358Ile)" "" "0000075719" "00016316" "50" "1276" "0" "1276" "0" "c.1276A>G" "r.(?)" "p.(Thr426Ala)" "" "0000075721" "00016316" "50" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Gly429Arg)" "" "0000075722" "00016316" "10" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Ala442=)" "" "0000305843" "00016316" "30" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Val232Met)" "" "0000567367" "00016316" "30" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Pro17=)" "" "0000567368" "00016316" "30" "430" "-5" "430" "-5" "c.430-5C>G" "r.spl?" "p.?" "" "0000567369" "00016316" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Cys300Tyr)" "" "0000567370" "00016316" "50" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Arg351Gln)" "" "0000577920" "00016316" "50" "226" "0" "226" "0" "c.226C>G" "r.(?)" "p.(Pro76Ala)" "" "0000577921" "00016316" "50" "814" "0" "814" "0" "c.814C>T" "r.(?)" "p.(Arg272Cys)" "" "0000577922" "00016316" "50" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(Asn284Ser)" "" "0000577923" "00016316" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Cys300Tyr)" "" "0000577924" "00016316" "70" "1019" "2" "1019" "2" "c.1019+2T>A" "r.(878_1019del)" "p.(Ser294Valfsāˆ—6)" "" "0000577925" "00016316" "70" "1285" "1" "1285" "1" "c.1285+1G>A" "r.[1186_1285del,1285_1286ins[a;1285+2_1286-1]]" "p.?" "" "0000577926" "00016316" "10" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Ala442=)" "" "0000617618" "00016316" "50" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Val232Met)" "" "0000624005" "00016316" "30" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Ser)" "" "0000624006" "00016316" "30" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(Gly357=)" "" "0000649976" "00016316" "50" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Val232Met)" "" "0000681412" "00016316" "30" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Lys157=)" "" "0000926887" "00016316" "90" "923" "0" "923" "0" "c.923T>C" "r.(?)" "p.(Leu308Pro)" "" "0000969756" "00016316" "30" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ala46Val)" "" "0001004781" "00016316" "30" "226" "0" "226" "0" "c.226C>G" "r.(?)" "p.(Pro76Ala)" "" "0001056668" "00016316" "30" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Cys300Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000047016" "0000075681" "0000047017" "0000075682" "0000047018" "0000075683" "0000047019" "0000075684" "0000047020" "0000075685" "0000047021" "0000075686" "0000047022" "0000075687" "0000047023" "0000075688" "0000047025" "0000075689" "0000047026" "0000075690" "0000047027" "0000075691" "0000047028" "0000075692" "0000047029" "0000075693" "0000047030" "0000075694" "0000047048" "0000075712" "0000047049" "0000075713" "0000047050" "0000075714" "0000047051" "0000075715" "0000047052" "0000075716" "0000047053" "0000577921" "0000047054" "0000075718" "0000047055" "0000075719" "0000047056" "0000577920" "0000047057" "0000075721" "0000047058" "0000075722" "0000249197" "0000577922" "0000249198" "0000577923" "0000249199" "0000577924" "0000249200" "0000577925" "0000249201" "0000577926" "0000293287" "0000649976"