### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = APOC3) # 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}}" "APOC3" "apolipoprotein C-III" "11" "q23.3" "unknown" "NG_008949.1" "UD_132085242359" "" "http://www.LOVD.nl/APOC3" "" "1" "610" "345" "107720" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/APOC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-12-12 17:31:35" "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}}" "00002700" "APOC3" "apolipoprotein C-III" "001" "NM_000040.1" "" "NP_000031.1" "" "" "" "-46" "487" "300" "116700624" "116703787" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03520" "-" "apolipoprotein C-III deficiency (hyperalphalipoproteinemia, type 2 (HALP-2))" "" "614028" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-07-05 08:24:40" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "APOC3" "03520" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00025496" "" "" "" "31" "" "00006" "{PMID:Crawford 2014:25363704}" "samples from NHANES study" "-" "-" "United States" "" "0" "" "" "" "" "00025497" "" "" "" "59" "" "00006" "{PMID:Pollin 2008:19074352}" "" "-" "-" "United States" "" "0" "" "" "Amish (Lancaster)" "" "00025498" "" "" "" "3" "" "00006" "{PMID:Maeda 1987:3123586}" "2-generation family, 3 affecteds" "-" "no" "Japan" "" "0" "" "" "" "" "00025499" "" "" "" "2" "" "00006" "{PMID:von Eckardstein 1991:2022742}" "2-generation family, mother and daugther" "F" "no" "Germany" "" "0" "" "" "" "" "00290245" "" "" "" "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 = 5 "{{individualid}}" "{{diseaseid}}" "00025496" "03520" "00025497" "03520" "00025498" "03520" "00025499" "03520" "00290245" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03520 ## Count = 4 "{{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}}" "0000021613" "03520" "00025497" "00006" "Familial, autosomal dominant" "" "see paper; cardioprotective effect; lower fasting and postprandial serum triglycerides, higher levels HDL-cholesterol, lower levels LDL-cholesterol" "" "" "" "" "" "" "" "" "" "" "" "0000021614" "03520" "00025496" "00006" "Familial, autosomal dominant" "" "see paper; associated with lower-TG (half) and higher HDL-C (>20%); reported as cardio-protective lipid profiles" "" "" "" "" "" "" "" "" "" "" "" "0000021615" "03520" "00025498" "00006" "Familial, autosomal dominant" "" "see paper; raised apolipoprotein C-III-O levels; normal triacylglycerols/cholesterol concentrations of VLDL, low density lipoprotein (LDL), HDL fractions, serum apolipoprotein C-III levels" "" "" "" "" "" "" "" "" "" "" "" "0000021616" "03520" "00025499" "00006" "Familial, autosomal dominant" "" "see paper; 0.3-0.4 reduced APOC3 plasma concentrations" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025500" "00025496" "1" "00006" "00006" "2014-12-12 17:44:28" "" "" "TaqMan" "DNA" "" "" "0000025501" "00025497" "1" "00006" "00006" "2014-12-12 18:25:02" "" "" "TaqMan" "DNA" "" "" "0000025502" "00025498" "1" "00006" "00006" "2014-12-12 18:48:37" "" "" "SEQ" "DNA" "" "" "0000025503" "00025499" "1" "00006" "00006" "2014-12-12 19:01:35" "" "" "SEQ" "DNA" "" "" "0000291413" "00290245" "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 = 4 "{{screeningid}}" "{{geneid}}" "0000025500" "APOC3" "0000025501" "APOC3" "0000025502" "APOC3" "0000025503" "APOC3" ## 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 = 200 "{{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}}" "0000048392" "1" "90" "11" "116701353" "116701353" "subst" "0.000666726" "00006" "APOC3_000001" "g.116701353C>T" "31/19613 individuals" "{PMID:Crawford 2014:25363704}, {OMIM107720:0003}" "" "" "not in 1113 Amish individuals (Indiana, Ohio), frequency increased (0.0023) in Mexican Americans" "Unknown" "yes" "rs76353203" "0" "" "" "g.116830637C>T" "" "pathogenic" "" "0000048393" "1" "90" "11" "116701353" "116701353" "subst" "0.000666726" "00006" "APOC3_000001" "g.116701353C>T" "59/1033 individuals" "{PMID:Pollin 2008:19074352}" "" "" "10/10 APOC3 expression reduced by 0.5" "Germline" "yes" "" "0" "" "" "g.116830637C>T" "" "pathogenic" "" "0000048394" "21" "70" "11" "116703580" "116703580" "subst" "3.24897E-5" "00006" "APOC3_000002" "g.116703580A>G" "" "{PMID:Maeda 1987:03123586}, {OMIM107720:0001}" "AluI+" "A>G (Thr74Ala)" "APOC3 polypeptide not glycosylated" "Germline" "yes" "rs121918381" "0" "" "" "g.116832864A>G" "" "likely pathogenic" "" "0000048395" "21" "90" "11" "116703532" "116703532" "subst" "4.06128E-6" "00006" "APOC3_000003" "g.116703532A>G" "" "{PMID:von Eckardstein 1991:02022742}, {OMIM107720:0002}" "" "Lys58Glu" "detected on protein gel" "Germline" "yes" "rs121918382" "0" "" "" "g.116832816A>G" "" "pathogenic" "" "0000247044" "0" "30" "11" "116708122" "116708122" "subst" "0" "02330" "APOA1_000018" "g.116708122A>G" "" "" "" "APOA1(NM_000039.3):c.-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116837406A>G" "" "likely benign" "" "0000247051" "0" "90" "11" "116706723" "116706723" "subst" "0" "02330" "APOA1_000013" "g.116706723A>G" "" "" "" "APOA1(NM_000039.3):c.605T>C (p.L202P), APOA1(NM_001318021.1):c.278T>C (p.L93P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836007A>G" "" "pathogenic" "" "0000247055" "0" "50" "11" "116707739" "116707739" "subst" "0.000324997" "02330" "APOA1_000014" "g.116707739A>C" "" "" "" "APOA1(NM_000039.1):c.178T>G (p.(Ser60Ala)), APOA1(NM_000039.3):c.178T>G (p.S60A), APOA1(NM_001318017.2):c.178T>G (p.S60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116837023A>C" "" "VUS" "" "0000247058" "0" "50" "11" "116701284" "116701284" "subst" "3.65827E-5" "02330" "APOC3_000004" "g.116701284A>G" "" "" "" "APOC3(NM_000040.3):c.-13-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116830568A>G" "" "VUS" "" "0000257960" "0" "50" "11" "116707759" "116707759" "subst" "2.03056E-5" "02330" "APOA1_000015" "g.116707759T>C" "" "" "" "APOA1(NM_000039.3):c.158A>G (p.Y53C), APOA1(NM_001318017.2):c.158A>G (p.Y53C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116837043T>C" "" "VUS" "" "0000257961" "0" "30" "11" "116707736" "116707736" "subst" "0.00283188" "02330" "APOA1_000010" "g.116707736C>T" "" "" "" "APOA1(NM_000039.1):c.181G>A (p.A61T), APOA1(NM_000039.3):c.181G>A (p.A61T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116837020C>T" "" "likely benign" "" "0000257962" "0" "10" "11" "116707698" "116707698" "subst" "5.69805E-5" "02330" "APOA1_000009" "g.116707698C>T" "" "" "" "APOA1(NM_000039.3):c.200+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836982C>T" "" "benign" "" "0000257963" "0" "90" "11" "116706940" "116706942" "del" "0" "02330" "APOA1_000008" "g.116706940_116706942del" "" "" "" "APOA1(NM_000039.1):c.391_393delAAG (p.K131del), APOA1(NM_000039.3):c.391_393delAAG (p.K131del), APOA1(NM_001318021.1):c.64_66delAAG (p.K22del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836224_116836226del" "" "pathogenic" "" "0000257964" "0" "90" "11" "116708060" "116708060" "subst" "0" "02330" "APOA1_000017" "g.116708060C>A" "" "" "" "APOA1(NM_000039.3):c.43+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116837344C>A" "" "pathogenic" "" "0000257965" "0" "30" "11" "116706874" "116706874" "subst" "0.0001995" "02330" "APOA1_000007" "g.116706874C>T" "" "" "" "APOA1(NM_000039.3):c.454G>A (p.E152K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836158C>T" "" "likely benign" "" "0000257966" "0" "90" "11" "116706871" "116706871" "subst" "0" "02330" "APOA1_000006" "g.116706871C>A" "" "" "" "APOA1(NM_000039.3):c.457G>T (p.G153C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836155C>A" "" "pathogenic" "" "0000257967" "0" "30" "11" "116706822" "116706822" "subst" "0" "02330" "APOA1_000005" "g.116706822C>T" "" "" "" "APOA1(NM_000039.3):c.506G>A (p.G169D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836106C>T" "" "likely benign" "" "0000257968" "0" "90" "11" "116706801" "116706812" "del" "0" "02330" "APOA1_000004" "g.116706801_116706812del" "" "" "" "APOA1(NM_001318021.1):c.194_205delACCGCGCGCGCG (p.D65_R68del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836085_116836096del" "" "pathogenic" "" "0000257969" "0" "10" "11" "116706766" "116706766" "subst" "0.000483088" "02330" "APOA1_000003" "g.116706766C>A" "" "" "" "APOA1(NM_000039.3):c.562G>T (p.A188S), APOA1(NM_001318021.1):c.235G>T (p.A79S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836050C>A" "" "benign" "" "0000257970" "0" "10" "11" "116706596" "116706596" "subst" "0.000931053" "02330" "APOA1_000012" "g.116706596G>C" "" "" "" "APOA1(NM_000039.1):c.732C>G (p.P244=), APOA1(NM_000039.3):c.732C>G (p.P244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116835880G>C" "" "benign" "" "0000257971" "0" "30" "11" "116706531" "116706531" "subst" "0" "02330" "APOA1_000011" "g.116706531G>A" "" "" "" "APOA1(NM_000039.3):c.797C>T (p.T266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116835815G>A" "" "likely benign" "" "0000257972" "0" "50" "11" "116707834" "116707834" "subst" "1.62738E-5" "02330" "APOA1_000016" "g.116707834G>C" "" "" "" "APOA1(NM_000039.1):c.83C>G (p.(Pro28Arg)), APOA1(NM_000039.3):c.83C>G (p.P28R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116837118G>C" "" "VUS" "" "0000258234" "0" "10" "11" "116701535" "116701535" "subst" "0.647068" "02330" "APOC3_000006" "g.116701535T>C" "" "" "" "APOC3(NM_000040.2):c.102T>C (p.G34=), APOC3(NM_000040.3):c.102T>C (p.G34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116830819T>C" "" "benign" "" "0000258235" "0" "30" "11" "116701560" "116701560" "subst" "0.000864487" "02330" "APOC3_000007" "g.116701560G>A" "" "" "" "APOC3(NM_000040.3):c.127G>A (p.A43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116830844G>A" "" "likely benign" "" "0000258236" "0" "10" "11" "116703464" "116703464" "subst" "0.00184007" "02330" "APOC3_000008" "g.116703464C>T" "" "" "" "APOC3(NM_000040.3):c.180-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116832748C>T" "" "benign" "" "0000258237" "0" "70" "11" "116703551" "116703551" "subst" "0" "02330" "APOC3_000010" "g.116703551T>C" "" "" "" "APOC3(NM_000040.3):c.251T>C (p.F84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116832835T>C" "" "likely pathogenic" "" "0000258238" "0" "30" "11" "116703575" "116703575" "subst" "4.87333E-5" "02330" "APOC3_000011" "g.116703575G>C" "" "" "" "APOC3(NM_000040.3):c.275G>C (p.R92T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116832859G>C" "" "likely benign" "" "0000258239" "0" "50" "11" "116701337" "116701345" "del" "0" "02330" "APOC3_000005" "g.116701337_116701345del" "" "" "" "APOC3(NM_000040.3):c.39_47delGCTCCTGGC (p.L14_A16del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116830621_116830629del" "" "VUS" "" "0000258240" "0" "50" "11" "116701353" "116701353" "subst" "0.000666726" "02330" "APOC3_000001" "g.116701353C>T" "" "" "" "APOC3(NM_000040.3):c.55C>T (p.R19*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116830637C>T" "" "VUS" "" "0000258789" "0" "10" "11" "116701535" "116701535" "subst" "0.647068" "02325" "APOC3_000006" "g.116701535T>C" "" "" "" "APOC3(NM_000040.2):c.102T>C (p.G34=), APOC3(NM_000040.3):c.102T>C (p.G34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116830819T>C" "" "benign" "" "0000259516" "0" "30" "11" "116703480" "116703480" "subst" "1.62933E-5" "02325" "APOC3_000009" "g.116703480G>A" "" "" "" "APOC3(NM_000040.3):c.180G>A (p.R60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116832764G>A" "" "likely benign" "" "0000322511" "0" "50" "11" "116706755" "116706755" "subst" "0" "01804" "APOA1_000001" "g.116706755G>T" "" "" "" "APOA1(NM_000039.1):c.573C>A (p.(Ser191Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836039G>T" "" "VUS" "" "0000322512" "0" "50" "11" "116706756" "116706756" "subst" "0" "01804" "APOA1_000002" "g.116706756C>T" "" "" "" "APOA1(NM_000039.1):c.572G>A (p.(Ser191Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116836040C>T" "" "VUS" "" "0000542410" "0" "10" "11" "116700860" "116700860" "subst" "0" "02330" "APOC3_000012" "g.116700860C>T" "" "" "" "APOC3(NM_000040.3):c.-14+204C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830144C>T" "" "benign" "" "0000542411" "0" "10" "11" "116701122" "116701122" "subst" "0" "02330" "APOC3_000013" "g.116701122C>G" "" "" "" "APOC3(NM_000040.3):c.-13-164C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830406C>G" "" "benign" "" "0000542412" "0" "10" "11" "116701153" "116701153" "subst" "0" "02330" "APOC3_000014" "g.116701153T>G" "" "" "" "APOC3(NM_000040.3):c.-13-133T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830437T>G" "" "benign" "" "0000542413" "0" "50" "11" "116701293" "116701293" "subst" "0" "02330" "APOC3_000015" "g.116701293G>A" "" "" "" "APOC3(NM_000040.3):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830577G>A" "" "VUS" "" "0000542414" "0" "50" "11" "116701317" "116701319" "del" "8.12539E-6" "02330" "APOC3_000016" "g.116701317_116701319del" "" "" "" "APOC3(NM_000040.3):c.19_21delCTT (p.L7del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830601_116830603del" "" "VUS" "" "0000542415" "0" "50" "11" "116701338" "116701338" "subst" "8.12863E-6" "02330" "APOC3_000017" "g.116701338C>T" "" "" "" "APOC3(NM_000040.3):c.40C>T (p.L14F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830622C>T" "" "VUS" "" "0000542416" "0" "50" "11" "116701354" "116701354" "subst" "0.0013986" "02330" "APOC3_000018" "g.116701354G>A" "" "" "" "APOC3(NM_000040.3):c.55+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830638G>A" "" "VUS" "" "0000542417" "0" "30" "11" "116701532" "116701532" "subst" "0.000334042" "02330" "APOA1_000019" "g.116701532G>A" "" "" "" "APOC3(NM_000040.3):c.99G>A (p.Q33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830816G>A" "" "likely benign" "" "0000542418" "0" "10" "11" "116701547" "116701547" "subst" "8.96737E-5" "02330" "APOA1_000020" "g.116701547C>T" "" "" "" "APOC3(NM_000040.3):c.114C>T (p.H38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830831C>T" "" "benign" "" "0000542419" "0" "10" "11" "116701583" "116701583" "subst" "0" "02330" "APOA1_000021" "g.116701583G>A" "" "" "" "APOC3(NM_000040.3):c.150G>A (p.V50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830867G>A" "" "benign" "" "0000542420" "0" "50" "11" "116701613" "116701613" "subst" "4.11828E-5" "02330" "APOA1_000022" "g.116701613G>T" "" "" "" "APOC3(NM_000040.3):c.179+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830897G>T" "" "VUS" "" "0000542421" "0" "30" "11" "116701674" "116701674" "subst" "0" "02330" "APOA1_000023" "g.116701674T>A" "" "" "" "APOC3(NM_000040.3):c.179+62T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830958T>A" "" "likely benign" "" "0000542422" "0" "10" "11" "116701850" "116701850" "subst" "0" "02330" "APOA1_000024" "g.116701850T>C" "" "" "" "APOC3(NM_000040.3):c.179+238T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831134T>C" "" "benign" "" "0000542423" "0" "10" "11" "116701907" "116701908" "dup" "0" "02330" "APOA1_000025" "g.116701907_116701908dup" "" "" "" "APOC3(NM_000040.3):c.179+295_179+296dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831191_116831192dup" "" "benign" "" "0000542424" "0" "10" "11" "116701909" "116701910" "del" "0" "02330" "APOA1_000026" "g.116701909_116701910del" "" "" "" "APOC3(NM_000040.3):c.179+296_179+305delTCTTTCTTTCinsTTTCTTTC, APOC3(NM_000040.3):c.179+297_179+298delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831193_116831194del" "" "benign" "" "0000542425" "0" "10" "11" "116701909" "116701914" "del" "0" "02330" "APOA1_000027" "g.116701909_116701914del" "" "" "" "APOC3(NM_000040.3):c.179+297_179+302delCTTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831193_116831198del" "" "benign" "" "0000542426" "0" "10" "11" "116701909" "116701922" "del" "0" "02330" "APOA1_000028" "g.116701909_116701922del" "" "" "" "APOC3(NM_000040.3):c.179+297_179+310delCTTTCTTTCTTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831193_116831206del" "" "benign" "" "0000542427" "0" "10" "11" "116701954" "116701960" "del" "0" "02330" "APOA1_000029" "g.116701954_116701960del" "" "" "" "APOC3(NM_000040.3):c.179+342_179+348delTTTCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831238_116831244del" "" "benign" "" "0000542428" "0" "10" "11" "116701970" "116701973" "del" "0" "02330" "APOA1_000030" "g.116701970_116701973del" "" "" "" "APOC3(NM_000040.3):c.179+358_179+361delTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831254_116831257del" "" "benign" "" "0000542429" "0" "10" "11" "116701987" "116701987" "subst" "0" "02330" "APOA1_000031" "g.116701987C>T" "" "" "" "APOC3(NM_000040.3):c.179+375C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831271C>T" "" "benign" "" "0000542430" "0" "10" "11" "116701999" "116701999" "subst" "0" "02330" "APOA1_000032" "g.116701999C>T" "" "" "" "APOC3(NM_000040.3):c.179+387C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831283C>T" "" "benign" "" "0000542431" "0" "10" "11" "116702000" "116702000" "subst" "0" "02330" "APOA1_000033" "g.116702000C>T" "" "" "" "APOC3(NM_000040.3):c.179+388C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831284C>T" "" "benign" "" "0000542432" "0" "10" "11" "116702003" "116702003" "del" "0" "02330" "APOA1_000034" "g.116702003del" "" "" "" "APOC3(NM_000040.3):c.179+391delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831287del" "" "benign" "" "0000542433" "0" "10" "11" "116702004" "116702006" "dup" "0" "02330" "APOA1_000035" "g.116702004_116702006dup" "" "" "" "APOC3(NM_000040.3):c.179+390_179+392dupTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831288_116831290dup" "" "benign" "" "0000542434" "0" "10" "11" "116703146" "116703146" "subst" "0" "02330" "APOA1_000036" "g.116703146C>T" "" "" "" "APOC3(NM_000040.3):c.180-334C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116832430C>T" "" "benign" "" "0000542435" "0" "30" "11" "116703582" "116703582" "subst" "3.65506E-5" "02330" "APOA1_000037" "g.116703582T>C" "" "" "" "APOC3(NM_000040.3):c.282T>C (p.T94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116832866T>C" "" "likely benign" "" "0000542436" "0" "10" "11" "116703640" "116703640" "subst" "0.839487" "02330" "APOA1_000038" "g.116703640G>C" "" "" "" "APOC3(NM_000040.2):c.*40G>C, APOC3(NM_000040.3):c.*40G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116832924G>C" "" "benign" "" "0000542437" "0" "10" "11" "116703671" "116703671" "subst" "0" "02330" "APOA1_000039" "g.116703671G>T" "" "" "" "APOC3(NM_000040.2):c.*71G>T, APOC3(NM_000040.3):c.*71G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116832955G>T" "" "benign" "" "0000542438" "0" "50" "11" "116706504" "116706504" "subst" "8.7038E-5" "02330" "APOA1_000040" "g.116706504G>C" "" "" "" "APOA1(NM_000039.3):c.*20C>G, APOA1(NM_001318021.1):c.*20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116835788G>C" "" "VUS" "" "0000542439" "0" "30" "11" "116706507" "116706507" "subst" "0.000103624" "02330" "APOA1_000041" "g.116706507G>A" "" "" "" "APOA1(NM_001318021.1):c.*17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116835791G>A" "" "likely benign" "" "0000542440" "0" "30" "11" "116706557" "116706557" "subst" "1.23095E-5" "02330" "APOA1_000042" "g.116706557G>A" "" "" "" "APOA1(NM_000039.3):c.771C>T (p.L257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116835841G>A" "" "likely benign" "" "0000542441" "0" "10" "11" "116706569" "116706569" "subst" "0" "02330" "APOA1_000043" "g.116706569G>A" "" "" "" "APOA1(NM_000039.3):c.759C>T (p.F253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116835853G>A" "" "benign" "" "0000542442" "0" "90" "11" "116706723" "116706723" "subst" "0" "02325" "APOA1_000013" "g.116706723A>G" "" "" "" "APOA1(NM_000039.3):c.605T>C (p.L202P), APOA1(NM_001318021.1):c.278T>C (p.L93P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836007A>G" "" "pathogenic" "" "0000542443" "0" "30" "11" "116706764" "116706764" "subst" "0.000139812" "02330" "APOA1_000044" "g.116706764G>C" "" "" "" "APOA1(NM_001318021.1):c.237C>G (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836048G>C" "" "likely benign" "" "0000542444" "0" "30" "11" "116706766" "116706766" "subst" "0.000483088" "01943" "APOA1_000003" "g.116706766C>A" "" "" "" "APOA1(NM_000039.3):c.562G>T (p.A188S), APOA1(NM_001318021.1):c.235G>T (p.A79S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836050C>A" "" "likely benign" "" "0000542445" "0" "50" "11" "116706814" "116706814" "subst" "0" "02330" "APOA1_000045" "g.116706814T>C" "" "" "" "APOA1(NM_000039.3):c.514A>G (p.M172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836098T>C" "" "VUS" "" "0000542446" "0" "10" "11" "116706821" "116706821" "subst" "2.07237E-5" "02330" "APOA1_000046" "g.116706821G>T" "" "" "" "APOA1(NM_000039.3):c.507C>A (p.G169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836105G>T" "" "benign" "" "0000542447" "0" "50" "11" "116706840" "116706840" "subst" "1.22703E-5" "02330" "APOA1_000047" "g.116706840T>C" "" "" "" "APOA1(NM_000039.3):c.488A>G (p.E163G), APOA1(NM_001318021.1):c.161A>G (p.E54G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836124T>C" "" "VUS" "" "0000542448" "0" "10" "11" "116706851" "116706851" "subst" "4.08317E-6" "02330" "APOA1_000048" "g.116706851G>C" "" "" "" "APOA1(NM_000039.1):c.477C>G (p.H159Q), APOA1(NM_000039.3):c.477C>G (p.H159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836135G>C" "" "benign" "" "0000542449" "0" "50" "11" "116706852" "116706852" "subst" "0" "02330" "APOA1_000049" "g.116706852T>C" "" "" "" "APOA1(NM_000039.3):c.476A>G (p.H159R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836136T>C" "" "VUS" "" "0000542450" "0" "50" "11" "116706880" "116706880" "subst" "0" "02330" "APOA1_000050" "g.116706880G>A" "" "" "" "APOA1(NM_000039.3):c.448C>T (p.L150F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836164G>A" "" "VUS" "" "0000542451" "0" "30" "11" "116706893" "116706893" "subst" "9.76245E-5" "02330" "APOA1_000051" "g.116706893C>G" "" "" "" "APOA1(NM_001318021.1):c.108G>C (p.P36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836177C>G" "" "likely benign" "" "0000542452" "0" "50" "11" "116706909" "116706909" "subst" "0" "02330" "APOA1_000052" "g.116706909C>A" "" "" "" "APOA1(NM_000039.3):c.419G>T (p.R140L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836193C>A" "" "VUS" "" "0000542453" "0" "50" "11" "116706961" "116706961" "subst" "4.06078E-6" "02330" "APOA1_000053" "g.116706961G>A" "" "" "" "APOA1(NM_000039.3):c.367C>T (p.P123S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836245G>A" "" "VUS" "" "0000542454" "0" "10" "11" "116707001" "116707001" "subst" "0.000101515" "02330" "APOA1_000054" "g.116707001C>T" "" "" "" "APOA1(NM_000039.1):c.327G>A (p.E109=), APOA1(NM_000039.3):c.327G>A (p.E109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836285C>T" "" "benign" "" "0000542455" "0" "70" "11" "116707044" "116707044" "subst" "0.000515795" "02330" "APOA1_000055" "g.116707044A>T" "" "" "" "APOA1(NM_000039.3):c.284T>A (p.F95Y), APOA1(NM_001318017.2):c.284T>A (p.F95Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836328A>T" "" "likely pathogenic" "" "0000542456" "0" "50" "11" "116707086" "116707086" "subst" "4.06464E-6" "02330" "APOA1_000056" "g.116707086A>T" "" "" "" "APOA1(NM_001318017.2):c.242T>A (p.F81Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836370A>T" "" "VUS" "" "0000542457" "0" "50" "11" "116707092" "116707092" "subst" "0" "02330" "APOA1_000057" "g.116707092G>A" "" "" "" "APOA1(NM_000039.3):c.236C>T (p.S79F), APOA1(NM_001318017.2):c.236C>T (p.S79F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836376G>A" "" "VUS" "" "0000542458" "0" "30" "11" "116707115" "116707115" "subst" "1.22105E-5" "02330" "APOA1_000058" "g.116707115A>C" "" "" "" "APOA1(NM_001318017.2):c.213T>G (p.L71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836399A>C" "" "likely benign" "" "0000542459" "0" "30" "11" "116707136" "116707136" "subst" "0.000106131" "02330" "APOA1_000059" "g.116707136T>C" "" "" "" "APOA1(NM_000039.3):c.201-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836420T>C" "" "likely benign" "" "0000542460" "0" "30" "11" "116707190" "116707190" "subst" "0" "02330" "APOA1_000060" "g.116707190G>A" "" "" "" "APOA1(NM_000039.3):c.201-63C>T, APOA1-AS(NR_126362.1):n.123+235G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836474G>A" "" "likely benign" "" "0000542461" "0" "10" "11" "116707338" "116707338" "subst" "0" "02330" "APOA1_000061" "g.116707338A>G" "" "" "" "APOA1(NM_001318021.1):c.-127-211T>C, APOA1-AS(NR_126362.1):n.123+383A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836622A>G" "" "benign" "" "0000542462" "0" "10" "11" "116707401" "116707401" "subst" "0" "02330" "APOA1_000062" "g.116707401G>A" "" "" "" "APOA1(NM_000039.3):c.201-274C>T, APOA1-AS(NR_126362.1):n.123+446G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836685G>A" "" "benign" "" "0000542463" "0" "10" "11" "116707583" "116707583" "subst" "0" "02330" "APOA1_000063" "g.116707583A>G" "" "" "" "APOA1(NM_000039.3):c.200+134T>C, APOA1-AS(NR_126362.1):n.123+628A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836867A>G" "" "benign" "" "0000542464" "0" "30" "11" "116707684" "116707684" "subst" "0.849838" "02330" "APOA1_000064" "g.116707684A>G" "" "" "" "APOA1(NM_000039.3):c.200+33T>C, APOA1(NM_001318021.1):c.-128+33T>C, APOA1-AS(NR_126362.1):n.123+729A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836968A>G" "" "likely benign" "" "0000542465" "0" "30" "11" "116707708" "116707708" "subst" "0" "02330" "APOA1_000065" "g.116707708G>T" "" "" "" "APOA1(NM_000039.3):c.200+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836992G>T" "" "likely benign" "" "0000542466" "0" "50" "11" "116707838" "116707838" "dup" "0" "01943" "APOA1_000066" "g.116707838dup" "" "" "" "APOA1(NM_001318017.1):c.85dupC (p.Q29Pfs*30), APOA1(NM_001318017.2):c.85dupC (p.Q29Pfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837122dup" "" "VUS" "" "0000542467" "0" "10" "11" "116708020" "116708020" "subst" "0.557368" "02330" "APOA1_000067" "g.116708020A>G" "" "" "" "APOA1(NM_000039.3):c.43+41T>C, APOA1-AS(NR_126362.1):n.123+1065A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837304A>G" "" "benign" "" "0000542468" "0" "30" "11" "116708095" "116708095" "subst" "0.000191198" "02330" "APOA1_000068" "g.116708095A>G" "" "" "" "APOA1(NM_000039.3):c.9T>C (p.A3=), APOA1(NM_001318017.1):c.9T>C (p.A3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837379A>G" "" "likely benign" "" "0000542469" "0" "30" "11" "116708254" "116708254" "subst" "0" "02330" "APOA1_000069" "g.116708254G>A" "" "" "" "APOA1(NM_000039.3):c.-21+67C>T, APOA1-AS(NR_126362.1):n.123+1299G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837538G>A" "" "likely benign" "" "0000613041" "0" "50" "11" "116701560" "116701560" "subst" "0.000864487" "02325" "APOC3_000007" "g.116701560G>A" "" "" "" "APOC3(NM_000040.3):c.127G>A (p.A43T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830844G>A" "" "VUS" "" "0000613042" "0" "10" "11" "116701669" "116701669" "subst" "0" "02330" "APOA1_000070" "g.116701669G>A" "" "" "" "APOC3(NM_000040.3):c.179+57G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830953G>A" "" "benign" "" "0000613043" "0" "10" "11" "116701833" "116701833" "subst" "0" "02330" "APOA1_000071" "g.116701833G>A" "" "" "" "APOC3(NM_000040.3):c.179+221G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831117G>A" "" "benign" "" "0000613044" "0" "10" "11" "116701898" "116701898" "subst" "0" "02330" "APOA1_000072" "g.116701898T>C" "" "" "" "APOC3(NM_000040.3):c.179+286T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116831182T>C" "" "benign" "" "0000613045" "0" "50" "11" "116703480" "116703480" "subst" "1.62933E-5" "02330" "APOC3_000009" "g.116703480G>A" "" "" "" "APOC3(NM_000040.3):c.180G>A (p.R60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116832764G>A" "" "VUS" "" "0000613046" "0" "30" "11" "116706505" "116706505" "subst" "0.000663102" "02330" "APOA1_000073" "g.116706505G>C" "" "" "" "APOA1(NM_001318021.1):c.*19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116835789G>C" "" "likely benign" "" "0000613047" "0" "50" "11" "116706965" "116706965" "subst" "4.06065E-6" "02330" "APOA1_000076" "g.116706965C>T" "" "" "" "APOA1(NM_000039.3):c.363G>A (p.V121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836249C>T" "" "VUS" "" "0000613048" "0" "30" "11" "116707805" "116707805" "subst" "0" "02330" "APOA1_000078" "g.116707805G>C" "" "" "" "APOA1(NM_001318017.2):c.112C>G (p.L38V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837089G>C" "" "likely benign" "" "0000613049" "0" "50" "11" "116707862" "116707862" "subst" "2.44938E-5" "02330" "APOA1_000079" "g.116707862G>A" "" "" "" "APOA1(NM_000039.3):c.55C>T (p.R19W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837146G>A" "" "VUS" "" "0000622546" "0" "50" "11" "116701353" "116701353" "subst" "8.13081E-6" "02330" "APOC3_000019" "g.116701353C>G" "" "" "" "APOC3(NM_000040.3):c.55C>G (p.R19G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830637C>G" "" "VUS" "" "0000622547" "0" "30" "11" "116706576" "116706576" "subst" "0" "02330" "APOA1_000074" "g.116706576A>C" "" "" "" "APOA1(NM_001318021.1):c.425T>G (p.V142G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116835860A>C" "" "likely benign" "" "0000622548" "0" "50" "11" "116706880" "116706880" "subst" "1.2212E-5" "02330" "APOA1_000075" "g.116706880G>T" "" "" "" "APOA1(NM_001318021.1):c.121C>A (p.L41I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836164G>T" "" "VUS" "" "0000622549" "0" "50" "11" "116707790" "116707790" "subst" "2.03074E-5" "02330" "APOA1_000077" "g.116707790C>T" "" "" "" "APOA1(NM_001318017.2):c.127G>A (p.V43M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837074C>T" "" "VUS" "" "0000622550" "0" "50" "11" "116708076" "116708076" "subst" "0" "02330" "APOA1_000080" "g.116708076C>T" "" "" "" "APOA1(NM_001318017.2):c.28G>A (p.V10M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116837360C>T" "" "VUS" "" "0000648102" "1" "90" "11" "116701560" "116701560" "subst" "0.000864487" "03575" "APOC3_000007" "g.116701560G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "protective; 1 heterozygous, no homozygous; {DB:CLININrs147210663}" "Germline" "" "rs147210663" "0" "" "" "g.116830844G>A" "" "VUS (!)" "" "0000656682" "0" "50" "11" "116701297" "116701297" "subst" "0" "02330" "APOC3_000020" "g.116701297C>A" "" "" "" "APOC3(NM_000040.3):c.-2C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830581C>A" "" "VUS" "" "0000656683" "0" "30" "11" "116701620" "116701620" "subst" "1.24364E-5" "02330" "APOA1_000081" "g.116701620C>T" "" "" "" "APOC3(NM_000040.3):c.179+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116830904C>T" "" "likely benign" "" "0000656684" "0" "30" "11" "116703616" "116703616" "subst" "0" "02330" "APOA1_000082" "g.116703616A>G" "" "" "" "APOC3(NM_000040.3):c.*16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116832900A>G" "" "likely benign" "" "0000656685" "0" "50" "11" "116706766" "116706766" "subst" "0" "02330" "APOA1_000083" "g.116706766C>T" "" "" "" "APOA1(NM_001318021.1):c.235G>A (p.A79T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836050C>T" "" "VUS" "" "0000656686" "0" "30" "11" "116707013" "116707013" "subst" "8.93379E-5" "02330" "APOA1_000084" "g.116707013G>A" "" "" "" "APOA1(NM_001318017.2):c.315C>T (p.G105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116836297G>A" "" "likely benign" "" "0000679053" "0" "10" "11" "116701909" "116701918" "del" "0" "02330" "APOA1_000085" "g.116701909_116701918del" "" "" "" "APOC3(NM_000040.3):c.179+297_179+306delCTTTCTTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000679054" "0" "30" "11" "116703493" "116703493" "subst" "3.6611E-5" "02330" "APOA1_000086" "g.116703493G>A" "" "" "" "APOC3(NM_000040.3):c.193G>A (p.D65N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679055" "0" "50" "11" "116707054" "116707054" "subst" "0" "02330" "APOA1_000087" "g.116707054T>C" "" "" "" "APOA1(NM_001318017.2):c.274A>G (p.T92A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679056" "0" "30" "11" "116708092" "116708092" "subst" "7.37499E-5" "01943" "APOA1_000088" "g.116708092C>T" "" "" "" "APOA1(NM_001318017.1):c.12G>A (p.A4=), APOA1(NM_001318017.2):c.12G>A (p.A4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679057" "0" "30" "11" "116708114" "116708114" "subst" "0" "02330" "APOA1_000089" "g.116708114C>T" "" "" "" "APOA1(NM_001318021.1):c.-294G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690933" "0" "30" "11" "116707010" "116707010" "subst" "0" "02330" "APOA1_000090" "g.116707010C>T" "" "" "" "APOA1(NM_001318017.2):c.318G>A (p.L106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690934" "0" "50" "11" "116707044" "116707044" "subst" "0.000515795" "02325" "APOA1_000055" "g.116707044A>T" "" "" "" "APOA1(NM_000039.3):c.284T>A (p.F95Y), APOA1(NM_001318017.2):c.284T>A (p.F95Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690935" "0" "30" "11" "116707879" "116707879" "subst" "2.4636E-5" "02330" "APOA1_000091" "g.116707879G>A" "" "" "" "APOA1(NM_001318021.1):c.-240-50C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690936" "0" "30" "11" "116708095" "116708095" "subst" "0.000191198" "01943" "APOA1_000068" "g.116708095A>G" "" "" "" "APOA1(NM_000039.3):c.9T>C (p.A3=), APOA1(NM_001318017.1):c.9T>C (p.A3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723204" "0" "50" "11" "116703570" "116703570" "subst" "8.12196E-6" "02330" "APOA1_000092" "g.116703570G>A" "" "" "" "APOC3(NM_000040.3):c.270G>A (p.E90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723205" "0" "30" "11" "116703588" "116703588" "subst" "1.21843E-5" "02330" "APOA1_000093" "g.116703588C>T" "" "" "" "APOC3(NM_000040.3):c.288C>T (p.A96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723206" "0" "30" "11" "116706547" "116706547" "subst" "0" "02330" "APOA1_000094" "g.116706547T>C" "" "" "" "APOA1(NM_001318021.1):c.454A>G (p.T152A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723207" "0" "50" "11" "116706562" "116706562" "subst" "3.27904E-5" "02330" "APOA1_000095" "g.116706562C>T" "" "" "" "APOA1(NM_001318021.1):c.439G>A (p.A147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723208" "0" "30" "11" "116706563" "116706563" "subst" "0" "02330" "APOA1_000096" "g.116706563G>A" "" "" "" "APOA1(NM_001318021.1):c.438C>T (p.S146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723209" "0" "50" "11" "116707087" "116707087" "subst" "4.06468E-6" "02330" "APOA1_000097" "g.116707087A>T" "" "" "" "APOA1(NM_001318017.2):c.241T>A (p.F81I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723210" "0" "50" "11" "116707111" "116707111" "subst" "0" "02330" "APOA1_000098" "g.116707111T>G" "" "" "" "APOA1(NM_001318017.2):c.217A>C (p.N73H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723211" "0" "50" "11" "116707130" "116707130" "subst" "0" "02330" "APOA1_000099" "g.116707130G>A" "" "" "" "APOA1(NM_001318021.1):c.-127-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723212" "0" "30" "11" "116707809" "116707809" "subst" "1.2193E-5" "02330" "APOA1_000100" "g.116707809C>T" "" "" "" "APOA1(NM_001318017.2):c.108G>A (p.K36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723213" "0" "10" "11" "116708413" "116708413" "subst" "0" "02330" "APOA1_000101" "g.116708413C>T" "" "" "" "APOA1(NM_001318021.1):c.-396G>A, APOA1-AS(NR_126362.1):n.123+1458C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804887" "0" "30" "11" "116701110" "116701110" "subst" "0" "02330" "APOC3_000021" "g.116701110C>T" "" "" "" "APOC3(NM_000040.3):c.-13-176C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804888" "0" "30" "11" "116701909" "116701930" "del" "0" "02330" "APOA1_000102" "g.116701909_116701930del" "" "" "" "APOC3(NM_000040.3):c.179+297_179+318delCTTTCTTTCTTTCTTTCTTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804889" "0" "10" "11" "116701966" "116701973" "del" "0" "02330" "APOA1_000103" "g.116701966_116701973del" "" "" "" "APOC3(NM_000040.3):c.179+354_179+361delTTTCTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804890" "0" "50" "11" "116706784" "116706784" "subst" "0" "02330" "APOA1_000104" "g.116706784C>T" "" "" "" "APOA1(NM_001318021.1):c.217G>A (p.A73T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852758" "0" "50" "11" "116701299" "116701299" "subst" "2.43782E-5" "02330" "APOC3_000023" "g.116701299A>T" "" "" "" "APOC3(NM_000040.3):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852759" "0" "90" "11" "116706598" "116706598" "del" "0" "02330" "APOA1_000107" "g.116706598del" "" "" "" "APOA1(NM_001318021.1):c.405delC (p.V136Cfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852760" "0" "50" "11" "116706830" "116706830" "subst" "7.40205E-5" "02330" "APOA1_000110" "g.116706830G>T" "" "" "" "APOA1(NM_001318021.1):c.171C>A (p.S57R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852761" "0" "30" "11" "116707001" "116707001" "subst" "0.000101515" "02326" "APOA1_000054" "g.116707001C>T" "" "" "" "APOA1(NM_000039.1):c.327G>A (p.E109=), APOA1(NM_000039.3):c.327G>A (p.E109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852762" "0" "50" "11" "116707074" "116707074" "subst" "0" "02330" "APOA1_000111" "g.116707074C>G" "" "" "" "APOA1(NM_001318017.2):c.254G>C (p.R85P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852763" "0" "30" "11" "116708093" "116708093" "subst" "0" "02330" "APOA1_000113" "g.116708093G>T" "" "" "" "APOA1(NM_001318017.2):c.11C>A (p.A4E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862301" "0" "10" "11" "116700777" "116700777" "subst" "0" "01943" "APOC3_000022" "g.116700777G>C" "" "" "" "APOC3(NM_000040.2):c.-14+121G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862302" "0" "10" "11" "116701535" "116701535" "subst" "0.647068" "01943" "APOC3_000006" "g.116701535T>C" "" "" "" "APOC3(NM_000040.2):c.102T>C (p.G34=), APOC3(NM_000040.3):c.102T>C (p.G34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862303" "0" "30" "11" "116701623" "116701623" "subst" "0" "02330" "APOA1_000105" "g.116701623T>C" "" "" "" "APOC3(NM_000040.3):c.179+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862304" "0" "10" "11" "116701994" "116702003" "del" "0" "02330" "APOA1_000106" "g.116701994_116702003del" "" "" "" "APOC3(NM_000040.3):c.179+382_179+391delTCTTTCCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862305" "0" "10" "11" "116703640" "116703640" "subst" "0.839487" "01943" "APOA1_000038" "g.116703640G>C" "" "" "" "APOC3(NM_000040.2):c.*40G>C, APOC3(NM_000040.3):c.*40G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862306" "0" "10" "11" "116703671" "116703671" "subst" "0" "01943" "APOA1_000039" "g.116703671G>T" "" "" "" "APOC3(NM_000040.2):c.*71G>T, APOC3(NM_000040.3):c.*71G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862307" "0" "50" "11" "116706664" "116706664" "subst" "1.63693E-5" "02330" "APOA1_000108" "g.116706664C>T" "" "" "" "APOA1(NM_000039.3):c.664G>A (p.E222K), APOA1(NM_001318021.1):c.337G>A (p.E113K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862308" "0" "50" "11" "116706761" "116706761" "subst" "0" "02330" "APOA1_000109" "g.116706761G>A" "" "" "" "APOA1(NM_001318021.1):c.240C>T (p.P80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862309" "0" "30" "11" "116707387" "116707387" "subst" "0" "02330" "APOA1_000112" "g.116707387T>A" "" "" "" "APOA1(NM_001318021.1):c.-127-260A>T, APOA1-AS(NR_126362.1):n.123+432T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889604" "0" "50" "11" "116701356" "116701356" "subst" "0" "02330" "APOC3_000024" "g.116701356A>G" "" "" "" "APOC3(NM_000040.3):c.55+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889605" "0" "30" "11" "116703473" "116703473" "subst" "2.44553E-5" "02330" "APOA1_000114" "g.116703473G>A" "" "" "" "APOC3(NM_000040.3):c.180-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889606" "0" "50" "11" "116706564" "116706587" "dup" "0" "02330" "APOA1_000115" "g.116706564_116706587dup" "" "" "" "APOA1(NM_001318021.1):c.414_437dupGAGCTTCAAGGTCAGCTTCCTGAG (p.L145_S146ins8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889607" "0" "50" "11" "116706579" "116706579" "subst" "0" "02330" "APOA1_000116" "g.116706579T>C" "" "" "" "APOA1(NM_001318021.1):c.422A>G (p.K141R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889608" "0" "30" "11" "116706596" "116706596" "subst" "0.000931053" "02326" "APOA1_000012" "g.116706596G>C" "" "" "" "APOA1(NM_000039.1):c.732C>G (p.P244=), APOA1(NM_000039.3):c.732C>G (p.P244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889609" "0" "30" "11" "116706824" "116706824" "subst" "0" "02330" "APOA1_000117" "g.116706824C>T" "" "" "" "APOA1(NM_001318021.1):c.177G>A (p.L59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889610" "0" "50" "11" "116706883" "116706883" "subst" "0" "02326" "APOA1_000118" "g.116706883C>G" "" "" "" "APOA1(NM_000039.1):c.445G>C (p.E149Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889611" "0" "90" "11" "116706940" "116706942" "del" "0" "02325" "APOA1_000008" "g.116706940_116706942del" "" "" "" "APOA1(NM_000039.1):c.391_393delAAG (p.K131del), APOA1(NM_000039.3):c.391_393delAAG (p.K131del), APOA1(NM_001318021.1):c.64_66delAAG (p.K22del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889612" "0" "50" "11" "116706940" "116706942" "del" "0" "02326" "APOA1_000008" "g.116706940_116706942del" "" "" "" "APOA1(NM_000039.1):c.391_393delAAG (p.K131del), APOA1(NM_000039.3):c.391_393delAAG (p.K131del), APOA1(NM_001318021.1):c.64_66delAAG (p.K22del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889613" "0" "50" "11" "116706961" "116706961" "subst" "4.06078E-6" "02330" "APOA1_000119" "g.116706961G>T" "" "" "" "APOA1(NM_001318021.1):c.40C>A (p.P14T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889614" "0" "50" "11" "116706997" "116706997" "subst" "0" "02330" "APOA1_000120" "g.116706997T>C" "" "" "" "APOA1(NM_001318021.1):c.4A>G (p.S2G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889615" "0" "30" "11" "116707731" "116707731" "subst" "1.62551E-5" "02330" "APOA1_000121" "g.116707731C>T" "" "" "" "APOA1(NM_001318017.2):c.186G>A (p.L62=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889616" "0" "50" "11" "116707792" "116707792" "subst" "0" "02330" "APOA1_000122" "g.116707792T>C" "" "" "" "APOA1(NM_001318017.2):c.125A>G (p.Y42C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889617" "0" "30" "11" "116708062" "116708062" "subst" "5.82859E-6" "02330" "APOA1_000123" "g.116708062C>G" "" "" "" "APOA1(NM_001318017.2):c.42G>C (p.T14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889618" "0" "30" "11" "116708077" "116708077" "subst" "0" "02330" "APOA1_000124" "g.116708077G>A" "" "" "" "APOA1(NM_001318017.2):c.27C>T (p.A9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925317" "0" "10" "11" "116707736" "116707736" "subst" "0.00283188" "02326" "APOA1_000010" "g.116707736C>T" "" "" "" "APOA1(NM_000039.1):c.181G>A (p.A61T), APOA1(NM_000039.3):c.181G>A (p.A61T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925318" "0" "30" "11" "116707893" "116707893" "subst" "8.25396E-6" "02330" "APOA1_000125" "g.116707893C>T" "" "" "" "APOA1(NM_001318021.1):c.-240-64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929801" "0" "50" "11" "116701286" "116701286" "subst" "0" "02330" "APOC3_000025" "g.116701286G>T" "" "" "" "APOC3(NM_000040.3):c.-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929802" "0" "30" "11" "116701574" "116701574" "subst" "1.632E-5" "02330" "APOA1_000126" "g.116701574G>A" "" "" "" "APOC3(NM_000040.3):c.141G>A (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929803" "0" "30" "11" "116707882" "116707882" "subst" "0" "02330" "APOA1_000127" "g.116707882G>A" "" "" "" "APOA1(NM_001318021.1):c.-240-53C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949579" "0" "50" "11" "116701581" "116701581" "subst" "6.1253E-5" "02330" "APOA1_000128" "g.116701581G>A" "" "" "" "APOC3(NM_000040.3):c.148G>A (p.V50M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949580" "0" "50" "11" "116706652" "116706652" "subst" "0" "02330" "APOA1_000129" "g.116706652T>C" "" "" "" "APOA1(NM_001318021.1):c.349A>G (p.T117A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949581" "0" "50" "11" "116706664" "116706664" "subst" "1.63693E-5" "02325" "APOA1_000108" "g.116706664C>T" "" "" "" "APOA1(NM_000039.3):c.664G>A (p.E222K), APOA1(NM_001318021.1):c.337G>A (p.E113K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949582" "0" "50" "11" "116706759" "116706759" "subst" "4.23008E-6" "02330" "APOA1_000130" "g.116706759T>C" "" "" "" "APOA1(NM_001318021.1):c.242A>G (p.Y81C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949583" "0" "30" "11" "116706851" "116706851" "subst" "4.08317E-6" "02326" "APOA1_000048" "g.116706851G>C" "" "" "" "APOA1(NM_000039.1):c.477C>G (p.H159Q), APOA1(NM_000039.3):c.477C>G (p.H159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949584" "0" "50" "11" "116706961" "116706961" "subst" "4.06078E-6" "02325" "APOA1_000053" "g.116706961G>A" "" "" "" "APOA1(NM_000039.3):c.367C>T (p.P123S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949585" "0" "30" "11" "116707513" "116707513" "subst" "0" "02330" "APOA1_000131" "g.116707513C>T" "" "" "" "APOA1(NM_001318021.1):c.-128+204G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949586" "0" "90" "11" "116707838" "116707838" "dup" "0" "02330" "APOA1_000066" "g.116707838dup" "" "" "" "APOA1(NM_001318017.1):c.85dupC (p.Q29Pfs*30), APOA1(NM_001318017.2):c.85dupC (p.Q29Pfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966156" "0" "30" "11" "116701474" "116701474" "subst" "1.22115E-5" "02330" "APOA1_000132" "g.116701474C>A" "" "" "" "APOC3(NM_000040.3):c.56-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966157" "0" "30" "11" "116702007" "116702007" "del" "0" "02330" "APOA1_000133" "g.116702007del" "" "" "" "APOC3(NM_000040.3):c.179+395delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966158" "0" "30" "11" "116702013" "116702016" "del" "0" "02330" "APOA1_000134" "g.116702013_116702016del" "" "" "" "APOC3(NM_000040.3):c.179+401_179+404delTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966159" "0" "10" "11" "116702123" "116702123" "subst" "0" "02330" "APOA1_000135" "g.116702123T>C" "" "" "" "APOC3(NM_000040.3):c.179+511T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966160" "0" "30" "11" "116706767" "116706767" "subst" "0" "02330" "APOA1_000136" "g.116706767C>G" "" "" "" "APOA1(NM_001318021.1):c.234G>C (p.L78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966161" "0" "30" "11" "116706866" "116706866" "subst" "0" "02330" "APOA1_000137" "g.116706866C>A" "" "" "" "APOA1(NM_001318021.1):c.135G>T (p.A45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966162" "0" "50" "11" "116707816" "116707816" "subst" "8.13154E-6" "02330" "APOA1_000138" "g.116707816C>A" "" "" "" "APOA1(NM_001318017.2):c.101G>T (p.R34L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966163" "0" "30" "11" "116708093" "116708093" "subst" "0" "02326" "APOA1_000139" "g.116708093G>A" "" "" "" "APOA1(NM_000039.1):c.11C>T (p.A4V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979367" "0" "50" "11" "116706848" "116706848" "subst" "4.08403E-6" "02330" "APOA1_000140" "g.116706848C>A" "" "" "" "APOA1(NM_001318021.1):c.153G>T (p.E51D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979368" "0" "30" "11" "116708062" "116708062" "subst" "2.33144E-5" "02330" "APOA1_000141" "g.116708062C>T" "" "" "" "APOA1(NM_001318017.2):c.42G>A (p.T14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998748" "0" "50" "11" "116701512" "116701512" "subst" "4.07169E-6" "02330" "APOA1_000142" "g.116701512T>C" "" "" "" "APOC3(NM_000040.3):c.79T>C (p.S27P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998749" "0" "50" "11" "116706534" "116706536" "dup" "0" "02330" "APOA1_000143" "g.116706534_116706536dup" "" "" "" "APOA1(NM_001318021.1):c.467_469dupACA (p.N156dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998750" "0" "30" "11" "116706857" "116706857" "subst" "0" "01804" "APOA1_000144" "g.116706857C>G" "" "" "" "APOA1(NM_000039.1):c.471G>C (p.(Lys157Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998751" "0" "30" "11" "116706908" "116706908" "subst" "4.06488E-6" "02330" "APOA1_000145" "g.116706908G>A" "" "" "" "APOA1(NM_001318021.1):c.93C>T (p.R31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998752" "0" "50" "11" "116706989" "116706989" "subst" "1.21821E-5" "02330" "APOA1_000146" "g.116706989A>C" "" "" "" "APOA1(NM_001318021.1):c.12T>G (p.D4E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998753" "0" "30" "11" "116707739" "116707739" "subst" "0.000324997" "01804" "APOA1_000014" "g.116707739A>C" "" "" "" "APOA1(NM_000039.1):c.178T>G (p.(Ser60Ala)), APOA1(NM_000039.3):c.178T>G (p.S60A), APOA1(NM_001318017.2):c.178T>G (p.S60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998754" "0" "50" "11" "116707834" "116707834" "subst" "1.62738E-5" "01804" "APOA1_000016" "g.116707834G>C" "" "" "" "APOA1(NM_000039.1):c.83C>G (p.(Pro28Arg)), APOA1(NM_000039.3):c.83C>G (p.P28R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014752" "0" "50" "11" "116701354" "116701354" "subst" "0.0013986" "02325" "APOC3_000018" "g.116701354G>A" "" "" "" "APOC3(NM_000040.3):c.55+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025906" "0" "50" "11" "116701284" "116701284" "subst" "3.65827E-5" "02325" "APOC3_000004" "g.116701284A>G" "" "" "" "APOC3(NM_000040.3):c.-13-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025907" "0" "30" "11" "116706701" "116706701" "subst" "0" "02330" "APOA1_000148" "g.116706701G>A" "" "" "" "APOA1(NM_001318021.1):c.300C>T (p.G100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025908" "0" "30" "11" "116707891" "116707891" "subst" "4.12354E-6" "02330" "APOA1_000149" "g.116707891G>A" "" "" "" "APOA1(NM_001318021.1):c.-240-62C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025909" "0" "30" "11" "116708092" "116708092" "subst" "7.37499E-5" "02330" "APOA1_000088" "g.116708092C>T" "" "" "" "APOA1(NM_001318017.1):c.12G>A (p.A4=), APOA1(NM_001318017.2):c.12G>A (p.A4=)" "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 APOC3 ## Count = 200 "{{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}}" "0000048392" "00002700" "90" "55" "0" "55" "0" "c.55C>T" "r.(spl?)" "p.(Arg19*)" "2" "0000048393" "00002700" "90" "55" "0" "55" "0" "c.55C>T" "r.(spl?)" "p.(Arg19*)" "2" "0000048394" "00002700" "70" "280" "0" "280" "0" "c.280A>G" "r.(?)" "p.(Thr94Ala)" "4" "0000048395" "00002700" "90" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Lys78Glu)" "4" "0000247044" "00002700" "30" "4822" "0" "4822" "0" "c.*4522A>G" "r.(=)" "p.(=)" "" "0000247051" "00002700" "90" "3423" "0" "3423" "0" "c.*3123A>G" "r.(=)" "p.(=)" "" "0000247055" "00002700" "50" "4439" "0" "4439" "0" "c.*4139A>C" "r.(=)" "p.(=)" "" "0000247058" "00002700" "50" "-13" "-2" "-13" "-2" "c.-13-2A>G" "r.spl?" "p.?" "" "0000257960" "00002700" "50" "4459" "0" "4459" "0" "c.*4159T>C" "r.(=)" "p.(=)" "" "0000257961" "00002700" "30" "4436" "0" "4436" "0" "c.*4136C>T" "r.(=)" "p.(=)" "" "0000257962" "00002700" "10" "4398" "0" "4398" "0" "c.*4098C>T" "r.(=)" "p.(=)" "" "0000257963" "00002700" "90" "3640" "0" "3642" "0" "c.*3340_*3342del" "r.(=)" "p.(=)" "" "0000257964" "00002700" "90" "4760" "0" "4760" "0" "c.*4460C>A" "r.(=)" "p.(=)" "" "0000257965" "00002700" "30" "3574" "0" "3574" "0" "c.*3274C>T" "r.(=)" "p.(=)" "" "0000257966" "00002700" "90" "3571" "0" "3571" "0" "c.*3271C>A" "r.(=)" "p.(=)" "" "0000257967" "00002700" "30" "3522" "0" "3522" "0" "c.*3222C>T" "r.(=)" "p.(=)" "" "0000257968" "00002700" "90" "3501" "0" "3512" "0" "c.*3201_*3212del" "r.(=)" "p.(=)" "" "0000257969" "00002700" "10" "3466" "0" "3466" "0" "c.*3166C>A" "r.(=)" "p.(=)" "" "0000257970" "00002700" "10" "3296" "0" "3296" "0" "c.*2996G>C" "r.(=)" "p.(=)" "" "0000257971" "00002700" "30" "3231" "0" "3231" "0" "c.*2931G>A" "r.(=)" "p.(=)" "" "0000257972" "00002700" "50" "4534" "0" "4534" "0" "c.*4234G>C" "r.(=)" "p.(=)" "" "0000258234" "00002700" "10" "102" "0" "102" "0" "c.102T>C" "r.(?)" "p.(Gly34=)" "" "0000258235" "00002700" "30" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000258236" "00002700" "10" "180" "-16" "180" "-16" "c.180-16C>T" "r.(=)" "p.(=)" "" "0000258237" "00002700" "70" "251" "0" "251" "0" "c.251T>C" "r.(?)" "p.(Phe84Ser)" "" "0000258238" "00002700" "30" "275" "0" "275" "0" "c.275G>C" "r.(?)" "p.(Arg92Thr)" "" "0000258239" "00002700" "50" "39" "0" "47" "0" "c.39_47del" "r.(?)" "p.(Leu14_Ala16del)" "" "0000258240" "00002700" "50" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Arg19Ter)" "" "0000258789" "00002700" "10" "102" "0" "102" "0" "c.102T>C" "r.(?)" "p.(Gly34=)" "" "0000259516" "00002700" "30" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Arg60=)" "" "0000322511" "00002700" "50" "3455" "0" "3455" "0" "c.*3155G>T" "r.(=)" "p.(=)" "" "0000322512" "00002700" "50" "3456" "0" "3456" "0" "c.*3156C>T" "r.(=)" "p.(=)" "" "0000542410" "00002700" "10" "-14" "204" "-14" "204" "c.-14+204C>T" "r.(=)" "p.(=)" "" "0000542411" "00002700" "10" "-13" "-164" "-13" "-164" "c.-13-164C>G" "r.(=)" "p.(=)" "" "0000542412" "00002700" "10" "-13" "-133" "-13" "-133" "c.-13-133T>G" "r.(=)" "p.(=)" "" "0000542413" "00002700" "50" "-6" "0" "-6" "0" "c.-6G>A" "r.(?)" "p.(=)" "" "0000542414" "00002700" "50" "19" "0" "21" "0" "c.19_21del" "r.(?)" "p.(Leu7del)" "" "0000542415" "00002700" "50" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Leu14Phe)" "" "0000542416" "00002700" "50" "55" "1" "55" "1" "c.55+1G>A" "r.spl?" "p.?" "" "0000542417" "00002700" "30" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Gln33=)" "" "0000542418" "00002700" "10" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(His38=)" "" "0000542419" "00002700" "10" "150" "0" "150" "0" "c.150G>A" "r.(?)" "p.(Val50=)" "" "0000542420" "00002700" "50" "179" "1" "179" "1" "c.179+1G>T" "r.spl?" "p.?" "" "0000542421" "00002700" "30" "179" "62" "179" "62" "c.179+62T>A" "r.(=)" "p.(=)" "" "0000542422" "00002700" "10" "179" "238" "179" "238" "c.179+238T>C" "r.(=)" "p.(=)" "" "0000542423" "00002700" "10" "179" "295" "179" "296" "c.179+295_179+296dup" "r.(=)" "p.(=)" "" "0000542424" "00002700" "10" "179" "297" "179" "298" "c.179+297_179+298del" "r.(=)" "p.(=)" "" "0000542425" "00002700" "10" "179" "297" "179" "302" "c.179+297_179+302del" "r.(=)" "p.(=)" "" "0000542426" "00002700" "10" "179" "297" "179" "310" "c.179+297_179+310del" "r.(=)" "p.(=)" "" "0000542427" "00002700" "10" "179" "342" "179" "348" "c.179+342_179+348del" "r.(=)" "p.(=)" "" "0000542428" "00002700" "10" "179" "358" "179" "361" "c.179+358_179+361del" "r.(=)" "p.(=)" "" "0000542429" "00002700" "10" "179" "375" "179" "375" "c.179+375C>T" "r.(=)" "p.(=)" "" "0000542430" "00002700" "10" "179" "387" "179" "387" "c.179+387C>T" "r.(=)" "p.(=)" "" "0000542431" "00002700" "10" "179" "388" "179" "388" "c.179+388C>T" "r.(=)" "p.(=)" "" "0000542432" "00002700" "10" "179" "391" "179" "391" "c.179+391del" "r.(=)" "p.(=)" "" "0000542433" "00002700" "10" "179" "392" "179" "394" "c.179+392_179+394dup" "r.(=)" "p.(=)" "" "0000542434" "00002700" "10" "180" "-334" "180" "-334" "c.180-334C>T" "r.(=)" "p.(=)" "" "0000542435" "00002700" "30" "282" "0" "282" "0" "c.282T>C" "r.(?)" "p.(Thr94=)" "" "0000542436" "00002700" "10" "340" "0" "340" "0" "c.*40G>C" "r.(=)" "p.(=)" "" "0000542437" "00002700" "10" "371" "0" "371" "0" "c.*71G>T" "r.(=)" "p.(=)" "" "0000542438" "00002700" "50" "3204" "0" "3204" "0" "c.*2904G>C" "r.(=)" "p.(=)" "" "0000542439" "00002700" "30" "3207" "0" "3207" "0" "c.*2907G>A" "r.(=)" "p.(=)" "" "0000542440" "00002700" "30" "3257" "0" "3257" "0" "c.*2957G>A" "r.(=)" "p.(=)" "" "0000542441" "00002700" "10" "3269" "0" "3269" "0" "c.*2969G>A" "r.(=)" "p.(=)" "" "0000542442" "00002700" "90" "3423" "0" "3423" "0" "c.*3123A>G" "r.(=)" "p.(=)" "" "0000542443" "00002700" "30" "3464" "0" "3464" "0" "c.*3164G>C" "r.(=)" "p.(=)" "" "0000542444" "00002700" "30" "3466" "0" "3466" "0" "c.*3166C>A" "r.(=)" "p.(=)" "" "0000542445" "00002700" "50" "3514" "0" "3514" "0" "c.*3214T>C" "r.(=)" "p.(=)" "" "0000542446" "00002700" "10" "3521" "0" "3521" "0" "c.*3221G>T" "r.(=)" "p.(=)" "" "0000542447" "00002700" "50" "3540" "0" "3540" "0" "c.*3240T>C" "r.(=)" "p.(=)" "" "0000542448" "00002700" "10" "3551" "0" "3551" "0" "c.*3251G>C" "r.(=)" "p.(=)" "" "0000542449" "00002700" "50" "3552" "0" "3552" "0" "c.*3252T>C" "r.(=)" "p.(=)" "" "0000542450" "00002700" "50" "3580" "0" "3580" "0" "c.*3280G>A" "r.(=)" "p.(=)" "" "0000542451" "00002700" "30" "3593" "0" "3593" "0" "c.*3293C>G" "r.(=)" "p.(=)" "" "0000542452" "00002700" "50" "3609" "0" "3609" "0" "c.*3309C>A" "r.(=)" "p.(=)" "" "0000542453" "00002700" "50" "3661" "0" "3661" "0" "c.*3361G>A" "r.(=)" "p.(=)" "" "0000542454" "00002700" "10" "3701" "0" "3701" "0" "c.*3401C>T" "r.(=)" "p.(=)" "" "0000542455" "00002700" "70" "3744" "0" "3744" "0" "c.*3444A>T" "r.(=)" "p.(=)" "" "0000542456" "00002700" "50" "3786" "0" "3786" "0" "c.*3486A>T" "r.(=)" "p.(=)" "" "0000542457" "00002700" "50" "3792" "0" "3792" "0" "c.*3492G>A" "r.(=)" "p.(=)" "" "0000542458" "00002700" "30" "3815" "0" "3815" "0" "c.*3515A>C" "r.(=)" "p.(=)" "" "0000542459" "00002700" "30" "3836" "0" "3836" "0" "c.*3536T>C" "r.(=)" "p.(=)" "" "0000542460" "00002700" "30" "3890" "0" "3890" "0" "c.*3590G>A" "r.(=)" "p.(=)" "" "0000542461" "00002700" "10" "4038" "0" "4038" "0" "c.*3738A>G" "r.(=)" "p.(=)" "" "0000542462" "00002700" "10" "4101" "0" "4101" "0" "c.*3801G>A" "r.(=)" "p.(=)" "" "0000542463" "00002700" "10" "4283" "0" "4283" "0" "c.*3983A>G" "r.(=)" "p.(=)" "" "0000542464" "00002700" "30" "4384" "0" "4384" "0" "c.*4084A>G" "r.(=)" "p.(=)" "" "0000542465" "00002700" "30" "4408" "0" "4408" "0" "c.*4108G>T" "r.(=)" "p.(=)" "" "0000542466" "00002700" "50" "4538" "0" "4538" "0" "c.*4238dup" "r.(?)" "p.(=)" "" "0000542467" "00002700" "10" "4720" "0" "4720" "0" "c.*4420A>G" "r.(=)" "p.(=)" "" "0000542468" "00002700" "30" "4795" "0" "4795" "0" "c.*4495A>G" "r.(=)" "p.(=)" "" "0000542469" "00002700" "30" "4954" "0" "4954" "0" "c.*4654G>A" "r.(=)" "p.(=)" "" "0000613041" "00002700" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000613042" "00002700" "10" "179" "57" "179" "57" "c.179+57G>A" "r.(=)" "p.(=)" "" "0000613043" "00002700" "10" "179" "221" "179" "221" "c.179+221G>A" "r.(=)" "p.(=)" "" "0000613044" "00002700" "10" "179" "286" "179" "286" "c.179+286T>C" "r.(=)" "p.(=)" "" "0000613045" "00002700" "50" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Arg60=)" "" "0000613046" "00002700" "30" "3205" "0" "3205" "0" "c.*2905G>C" "r.(=)" "p.(=)" "" "0000613047" "00002700" "50" "3665" "0" "3665" "0" "c.*3365C>T" "r.(=)" "p.(=)" "" "0000613048" "00002700" "30" "4505" "0" "4505" "0" "c.*4205G>C" "r.(=)" "p.(=)" "" "0000613049" "00002700" "50" "4562" "0" "4562" "0" "c.*4262G>A" "r.(=)" "p.(=)" "" "0000622546" "00002700" "50" "55" "0" "55" "0" "c.55C>G" "r.(?)" "p.(Arg19Gly)" "" "0000622547" "00002700" "30" "3276" "0" "3276" "0" "c.*2976A>C" "r.(=)" "p.(=)" "" "0000622548" "00002700" "50" "3580" "0" "3580" "0" "c.*3280G>T" "r.(=)" "p.(=)" "" "0000622549" "00002700" "50" "4490" "0" "4490" "0" "c.*4190C>T" "r.(=)" "p.(=)" "" "0000622550" "00002700" "50" "4776" "0" "4776" "0" "c.*4476C>T" "r.(=)" "p.(=)" "" "0000648102" "00002700" "90" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Ala43Thr)" "" "0000656682" "00002700" "50" "-2" "0" "-2" "0" "c.-2C>A" "r.(?)" "p.(=)" "" "0000656683" "00002700" "30" "179" "8" "179" "8" "c.179+8C>T" "r.(=)" "p.(=)" "" "0000656684" "00002700" "30" "316" "0" "316" "0" "c.*16A>G" "r.(=)" "p.(=)" "" "0000656685" "00002700" "50" "3466" "0" "3466" "0" "c.*3166C>T" "r.(=)" "p.(=)" "" "0000656686" "00002700" "30" "3713" "0" "3713" "0" "c.*3413G>A" "r.(=)" "p.(=)" "" "0000679053" "00002700" "10" "179" "297" "179" "306" "c.179+297_179+306del" "r.(=)" "p.(=)" "" "0000679054" "00002700" "30" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Asp65Asn)" "" "0000679055" "00002700" "50" "3754" "0" "3754" "0" "c.*3454T>C" "r.(=)" "p.(=)" "" "0000679056" "00002700" "30" "4792" "0" "4792" "0" "c.*4492C>T" "r.(=)" "p.(=)" "" "0000679057" "00002700" "30" "4814" "0" "4814" "0" "c.*4514C>T" "r.(=)" "p.(=)" "" "0000690933" "00002700" "30" "3710" "0" "3710" "0" "c.*3410C>T" "r.(=)" "p.(=)" "" "0000690934" "00002700" "50" "3744" "0" "3744" "0" "c.*3444A>T" "r.(=)" "p.(=)" "" "0000690935" "00002700" "30" "4579" "0" "4579" "0" "c.*4279G>A" "r.(=)" "p.(=)" "" "0000690936" "00002700" "30" "4795" "0" "4795" "0" "c.*4495A>G" "r.(=)" "p.(=)" "" "0000723204" "00002700" "50" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Glu90=)" "" "0000723205" "00002700" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Ala96=)" "" "0000723206" "00002700" "30" "3247" "0" "3247" "0" "c.*2947T>C" "r.(=)" "p.(=)" "" "0000723207" "00002700" "50" "3262" "0" "3262" "0" "c.*2962C>T" "r.(=)" "p.(=)" "" "0000723208" "00002700" "30" "3263" "0" "3263" "0" "c.*2963G>A" "r.(=)" "p.(=)" "" "0000723209" "00002700" "50" "3787" "0" "3787" "0" "c.*3487A>T" "r.(=)" "p.(=)" "" "0000723210" "00002700" "50" "3811" "0" "3811" "0" "c.*3511T>G" "r.(=)" "p.(=)" "" "0000723211" "00002700" "50" "3830" "0" "3830" "0" "c.*3530G>A" "r.(=)" "p.(=)" "" "0000723212" "00002700" "30" "4509" "0" "4509" "0" "c.*4209C>T" "r.(=)" "p.(=)" "" "0000723213" "00002700" "10" "5113" "0" "5113" "0" "c.*4813C>T" "r.(=)" "p.(=)" "" "0000804887" "00002700" "30" "-13" "-176" "-13" "-176" "c.-13-176C>T" "r.(=)" "p.(=)" "" "0000804888" "00002700" "30" "179" "297" "179" "318" "c.179+297_179+318del" "r.(=)" "p.(=)" "" "0000804889" "00002700" "10" "179" "354" "179" "361" "c.179+354_179+361del" "r.(=)" "p.(=)" "" "0000804890" "00002700" "50" "3484" "0" "3484" "0" "c.*3184C>T" "r.(=)" "p.(=)" "" "0000852758" "00002700" "50" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" "" "0000852759" "00002700" "90" "3298" "0" "3298" "0" "c.*2998del" "r.(?)" "p.(=)" "" "0000852760" "00002700" "50" "3530" "0" "3530" "0" "c.*3230G>T" "r.(=)" "p.(=)" "" "0000852761" "00002700" "30" "3701" "0" "3701" "0" "c.*3401C>T" "r.(=)" "p.(=)" "" "0000852762" "00002700" "50" "3774" "0" "3774" "0" "c.*3474C>G" "r.(=)" "p.(=)" "" "0000852763" "00002700" "30" "4793" "0" "4793" "0" "c.*4493G>T" "r.(=)" "p.(=)" "" "0000862301" "00002700" "10" "-14" "121" "-14" "121" "c.-14+121G>C" "r.(=)" "p.(=)" "" "0000862302" "00002700" "10" "102" "0" "102" "0" "c.102T>C" "r.(?)" "p.(Gly34=)" "" "0000862303" "00002700" "30" "179" "11" "179" "11" "c.179+11T>C" "r.(=)" "p.(=)" "" "0000862304" "00002700" "10" "179" "382" "179" "391" "c.179+382_179+391del" "r.(=)" "p.(=)" "" "0000862305" "00002700" "10" "340" "0" "340" "0" "c.*40G>C" "r.(=)" "p.(=)" "" "0000862306" "00002700" "10" "371" "0" "371" "0" "c.*71G>T" "r.(=)" "p.(=)" "" "0000862307" "00002700" "50" "3364" "0" "3364" "0" "c.*3064C>T" "r.(=)" "p.(=)" "" "0000862308" "00002700" "50" "3461" "0" "3461" "0" "c.*3161G>A" "r.(=)" "p.(=)" "" "0000862309" "00002700" "30" "4087" "0" "4087" "0" "c.*3787T>A" "r.(=)" "p.(=)" "" "0000889604" "00002700" "50" "55" "3" "55" "3" "c.55+3A>G" "r.spl?" "p.?" "" "0000889605" "00002700" "30" "180" "-7" "180" "-7" "c.180-7G>A" "r.(=)" "p.(=)" "" "0000889606" "00002700" "50" "3264" "0" "3287" "0" "c.*2964_*2987dup" "r.(=)" "p.(=)" "" "0000889607" "00002700" "50" "3279" "0" "3279" "0" "c.*2979T>C" "r.(=)" "p.(=)" "" "0000889608" "00002700" "30" "3296" "0" "3296" "0" "c.*2996G>C" "r.(=)" "p.(=)" "" "0000889609" "00002700" "30" "3524" "0" "3524" "0" "c.*3224C>T" "r.(=)" "p.(=)" "" "0000889610" "00002700" "50" "3583" "0" "3583" "0" "c.*3283C>G" "r.(=)" "p.(=)" "" "0000889611" "00002700" "90" "3640" "0" "3642" "0" "c.*3340_*3342del" "r.(=)" "p.(=)" "" "0000889612" "00002700" "50" "3640" "0" "3642" "0" "c.*3340_*3342del" "r.(=)" "p.(=)" "" "0000889613" "00002700" "50" "3661" "0" "3661" "0" "c.*3361G>T" "r.(=)" "p.(=)" "" "0000889614" "00002700" "50" "3697" "0" "3697" "0" "c.*3397T>C" "r.(=)" "p.(=)" "" "0000889615" "00002700" "30" "4431" "0" "4431" "0" "c.*4131C>T" "r.(=)" "p.(=)" "" "0000889616" "00002700" "50" "4492" "0" "4492" "0" "c.*4192T>C" "r.(=)" "p.(=)" "" "0000889617" "00002700" "30" "4762" "0" "4762" "0" "c.*4462C>G" "r.(=)" "p.(=)" "" "0000889618" "00002700" "30" "4777" "0" "4777" "0" "c.*4477G>A" "r.(=)" "p.(=)" "" "0000925317" "00002700" "10" "4436" "0" "4436" "0" "c.*4136C>T" "r.(=)" "p.(=)" "" "0000925318" "00002700" "30" "4593" "0" "4593" "0" "c.*4293C>T" "r.(=)" "p.(=)" "" "0000929801" "00002700" "50" "-13" "0" "-13" "0" "c.-13G>T" "r.(?)" "p.(=)" "" "0000929802" "00002700" "30" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(=)" "" "0000929803" "00002700" "30" "4582" "0" "4582" "0" "c.*4282G>A" "r.(=)" "p.(=)" "" "0000949579" "00002700" "50" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Val50Met)" "" "0000949580" "00002700" "50" "3352" "0" "3352" "0" "c.*3052T>C" "r.(=)" "p.(=)" "" "0000949581" "00002700" "50" "3364" "0" "3364" "0" "c.*3064C>T" "r.(=)" "p.(=)" "" "0000949582" "00002700" "50" "3459" "0" "3459" "0" "c.*3159T>C" "r.(=)" "p.(=)" "" "0000949583" "00002700" "30" "3551" "0" "3551" "0" "c.*3251G>C" "r.(=)" "p.(=)" "" "0000949584" "00002700" "50" "3661" "0" "3661" "0" "c.*3361G>A" "r.(=)" "p.(=)" "" "0000949585" "00002700" "30" "4213" "0" "4213" "0" "c.*3913C>T" "r.(=)" "p.(=)" "" "0000949586" "00002700" "90" "4538" "0" "4538" "0" "c.*4238dup" "r.(?)" "p.(=)" "" "0000966156" "00002700" "30" "56" "-15" "56" "-15" "c.56-15C>A" "r.(=)" "p.(=)" "" "0000966157" "00002700" "30" "179" "395" "179" "395" "c.179+395del" "r.(=)" "p.(=)" "" "0000966158" "00002700" "30" "179" "401" "179" "404" "c.179+401_179+404del" "r.(=)" "p.(=)" "" "0000966159" "00002700" "10" "179" "511" "179" "511" "c.179+511T>C" "r.(=)" "p.(=)" "" "0000966160" "00002700" "30" "3467" "0" "3467" "0" "c.*3167C>G" "r.(=)" "p.(=)" "" "0000966161" "00002700" "30" "3566" "0" "3566" "0" "c.*3266C>A" "r.(=)" "p.(=)" "" "0000966162" "00002700" "50" "4516" "0" "4516" "0" "c.*4216C>A" "r.(=)" "p.(=)" "" "0000966163" "00002700" "30" "4793" "0" "4793" "0" "c.*4493G>A" "r.(=)" "p.(=)" "" "0000979367" "00002700" "50" "3548" "0" "3548" "0" "c.*3248C>A" "r.(=)" "p.(=)" "" "0000979368" "00002700" "30" "4762" "0" "4762" "0" "c.*4462C>T" "r.(=)" "p.(=)" "" "0000998748" "00002700" "50" "79" "0" "79" "0" "c.79T>C" "r.(?)" "p.(Ser27Pro)" "" "0000998749" "00002700" "50" "3234" "0" "3236" "0" "c.*2934_*2936dup" "r.(=)" "p.(=)" "" "0000998750" "00002700" "30" "3557" "0" "3557" "0" "c.*3257C>G" "r.(=)" "p.(=)" "" "0000998751" "00002700" "30" "3608" "0" "3608" "0" "c.*3308G>A" "r.(=)" "p.(=)" "" "0000998752" "00002700" "50" "3689" "0" "3689" "0" "c.*3389A>C" "r.(=)" "p.(=)" "" "0000998753" "00002700" "30" "4439" "0" "4439" "0" "c.*4139A>C" "r.(=)" "p.(=)" "" "0000998754" "00002700" "50" "4534" "0" "4534" "0" "c.*4234G>C" "r.(=)" "p.(=)" "" "0001014752" "00002700" "50" "55" "1" "55" "1" "c.55+1G>A" "r.spl?" "p.?" "" "0001025906" "00002700" "50" "-13" "-2" "-13" "-2" "c.-13-2A>G" "r.spl?" "p.?" "" "0001025907" "00002700" "30" "3401" "0" "3401" "0" "c.*3101G>A" "r.(=)" "p.(=)" "" "0001025908" "00002700" "30" "4591" "0" "4591" "0" "c.*4291G>A" "r.(=)" "p.(=)" "" "0001025909" "00002700" "30" "4792" "0" "4792" "0" "c.*4492C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000025500" "0000048392" "0000025501" "0000048393" "0000025502" "0000048394" "0000025503" "0000048395" "0000291413" "0000648102"