### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LCAT) # 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}}" "LCAT" "lecithin-cholesterol acyltransferase" "16" "q22.1" "unknown" "NG_009778.1" "UD_132084505773" "" "https://www.LOVD.nl/LCAT" "" "1" "6522" "3931" "606967" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/LCAT_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-11-09 18:58:49" "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}}" "00010992" "LCAT" "lecithin-cholesterol acyltransferase" "001" "NM_000229.1" "" "NP_000220.1" "" "" "" "-11" "1343" "1323" "67978015" "67973787" "" "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}}" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "00176" "HDLCD2" "hypoalphalipoproteinemia (HDL deficiency, type 2 (HDLCD-2))" "" "604091" "" "" "" "00006" "2013-08-11 14:08:14" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01334" "FED" "disease, fish-eye (FED)" "AR" "136120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01892" "-" "deficiency, lecithin:cholesterol acyltransferase (Norum disease)" "AR" "245900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "LCAT" "01334" "LCAT" "01892" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00132807" "" "" "" "3" "" "00006" "{PMID:Kuivenhoven 1996:8755645}" "4-generation family, 3 affected sisters, 7 unaffected heterozygous carriers" "F" "no" "Netherlands" "" "0" "" "" "" "08755645-Fam" "00240082" "" "" "" "1" "" "01181" "" "" "" "" "" "" "0" "" "" "" "" "00240083" "" "" "" "1" "" "01181" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00240084" "" "" "" "1" "" "01181" "" "" "" "" "" "" "0" "" "" "" "" "00240085" "" "" "" "1" "" "01181" "" "" "" "" "" "" "0" "" "" "" "" "00240086" "" "" "" "1" "" "01181" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00240087" "" "" "" "1" "" "01181" "" "" "" "" "" "" "0" "" "" "" "" "00240088" "" "" "" "1" "" "01181" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00240089" "" "" "" "1" "" "01181" "" "" "" "" "" "" "0" "" "" "" "" "00267046" "" "" "" "1" "" "03462" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "3-generation family" "F" "" "United States" "" "0" "" "" "white" "Fam1PatI1" "00291520" "" "" "" "140" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291521" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291522" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304530" "" "" "" "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 = 14 "{{individualid}}" "{{diseaseid}}" "00132807" "01334" "00240082" "01334" "00240083" "01334" "00240084" "00176" "00240085" "00176" "00240086" "00176" "00240087" "00176" "00240088" "00176" "00240089" "01334" "00267046" "00174" "00291520" "00198" "00291521" "00198" "00291522" "00198" "00304530" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00174, 00176, 00198, 01334, 01892 ## 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}}" "0000105570" "01334" "00132807" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000204976" "00174" "00267046" "03462" "Familial, autosomal dominant" "06y" "LDL 719mg/dl" "" "" "" "" "" "" "" "" "Homozygous familial hypercholesterolemia" "Homozygous familial hypercholesterolemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133641" "00132807" "1" "00006" "00006" "2017-11-09 19:11:31" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000241186" "00240082" "1" "01181" "01181" "2011-07-11 16:15:46" "" "" "SEQ" "DNA" "" "" "0000241187" "00240083" "1" "01181" "01181" "2011-07-11 15:52:35" "00006" "2011-07-27 22:22:32" "SEQ" "DNA" "" "" "0000241188" "00240084" "1" "01181" "01181" "2011-07-11 15:45:38" "" "" "SEQ" "DNA" "" "" "0000241189" "00240085" "1" "01181" "01181" "2011-07-11 16:03:36" "" "" "SEQ" "DNA" "" "" "0000241190" "00240086" "1" "01181" "01181" "2011-07-11 15:54:40" "" "" "SEQ" "DNA" "" "" "0000241191" "00240087" "1" "01181" "01181" "2011-07-11 16:01:52" "" "" "SEQ" "DNA" "" "" "0000241192" "00240088" "1" "01181" "01181" "2011-07-11 15:50:28" "" "" "SEQ" "DNA" "" "" "0000241193" "00240089" "1" "01181" "01181" "2011-07-11 16:08:15" "" "" "SEQ" "DNA" "" "" "0000268175" "00267046" "1" "03462" "03462" "2019-11-01 01:23:56" "" "" "SEQ-NG" "DNA" "" "" "0000292688" "00291520" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292689" "00291521" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292690" "00291522" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305659" "00304530" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000133641" "LCAT" "0000241186" "LCAT" "0000241187" "LCAT" "0000241188" "LCAT" "0000241189" "LCAT" "0000241190" "LCAT" "0000241191" "LCAT" "0000241192" "LCAT" "0000241193" "LCAT" "0000268175" "LDLR" ## 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 = 185 "{{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}}" "0000222892" "10" "90" "16" "67976657" "67976657" "subst" "4.08644E-5" "00006" "LCAT_000010" "g.67976657G>A" "" "{PMID:Kuivenhoven 1996:08755645}" "" "C2182T (T123I)" "" "Germline" "yes" "" "0" "" "" "g.67942754G>A" "" "pathogenic" "" "0000222893" "20" "90" "16" "67976512" "67976512" "subst" "0" "00006" "LCAT_000101" "g.67976512A>G" "" "{PMID:Kuivenhoven 1996:08755645}" "" "T2327C IVS4-22" "variant not in 336 control chromosomes; branchpoint variant; effect confirmed using mini-gene expression" "Germline" "yes" "" "0" "" "" "g.67942609A>G" "" "pathogenic" "" "0000247375" "0" "10" "16" "67976320" "67976320" "subst" "0.0175759" "02330" "LCAT_000113" "g.67976320A>T" "" "" "" "LCAT(NM_000229.2):c.694T>A (p.S232T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942417A>T" "" "benign" "" "0000247402" "0" "70" "16" "67976793" "67976793" "subst" "0" "02330" "LCAT_000118" "g.67976793A>G" "" "" "" "LCAT(NM_000229.2):c.398T>C (p.V133A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942890A>G" "" "likely pathogenic" "" "0000247404" "0" "90" "16" "67976409" "67976409" "subst" "8.12486E-6" "02330" "LCAT_000114" "g.67976409A>G" "" "" "" "LCAT(NM_000229.2):c.605T>C (p.I202T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942506A>G" "" "pathogenic" "" "0000247407" "0" "90" "16" "67976316" "67976316" "subst" "4.06184E-6" "02330" "LCAT_000112" "g.67976316A>G" "" "" "" "LCAT(NM_000229.2):c.698T>C (p.L233P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942413A>G" "" "pathogenic" "" "0000247408" "0" "90" "16" "67977103" "67977103" "subst" "2.0403E-5" "02330" "LCAT_000127" "g.67977103A>G" "" "" "" "LCAT(NM_000229.2):c.167T>C (p.L56P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67943200A>G" "" "pathogenic" "" "0000247421" "0" "50" "16" "67977061" "67977061" "subst" "0" "02330" "LCAT_000126" "g.67977061A>G" "" "" "" "LCAT(NM_000229.2):c.209T>C (p.V70A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67943158A>G" "" "VUS" "" "0000256243" "0" "50" "16" "67977925" "67977925" "subst" "0" "01943" "LCAT_000132" "g.67977925A>G" "" "" "" "LCAT(NM_000229.1):c.80T>C (p.L27P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67944022A>G" "" "VUS" "" "0000278759" "0" "90" "16" "67977904" "67977904" "subst" "0" "02330" "LCAT_000130" "g.67977904G>T" "" "" "" "LCAT(NM_000229.2):c.101C>A (p.P34Q), SLC12A4(NM_005072.5):c.*839C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67944001G>T" "" "pathogenic" "" "0000278760" "0" "90" "16" "67977904" "67977904" "subst" "0" "02330" "LCAT_000131" "g.67977904G>A" "" "" "" "LCAT(NM_000229.2):c.101C>T (p.P34L), SLC12A4(NM_005072.5):c.*839C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67944001G>A" "" "pathogenic" "" "0000278761" "0" "50" "16" "67977903" "67977903" "subst" "1.36902E-5" "02330" "LCAT_000129" "g.67977903C>T" "" "" "" "LCAT(NM_000229.2):c.102G>A (p.P34=), SLC12A4(NM_005072.5):c.*840G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67944000C>T" "" "VUS" "" "0000278763" "0" "10" "16" "67974074" "67974074" "subst" "0" "02330" "LCAT_000103" "g.67974074G>A" "" "" "" "LCAT(NM_000229.2):c.1056C>T (p.D352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940171G>A" "" "benign" "" "0000278764" "0" "30" "16" "67973998" "67973998" "subst" "0.00116827" "02330" "LCAT_000102" "g.67973998C>T" "" "" "" "LCAT(NM_000229.2):c.1132G>A (p.E378K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940095C>T" "" "likely benign" "" "0000278765" "0" "90" "16" "67977871" "67977872" "del" "0" "02330" "LCAT_000128" "g.67977871_67977872del" "" "" "" "LCAT(NM_000229.2):c.138_139delAC (p.R47Afs*55), SLC12A4(NM_005072.5):c.*876_*877delAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67943968_67943969del" "" "pathogenic" "" "0000278766" "0" "10" "16" "67976893" "67976893" "del" "0" "02330" "LCAT_000125" "g.67976893del" "" "" "" "LCAT(NM_000229.2):c.312-10delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942990del" "" "benign" "" "0000278767" "0" "10" "16" "67976884" "67976884" "subst" "0" "02330" "LCAT_000123" "g.67976884G>C" "" "" "" "LCAT(NM_000229.2):c.312-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942981G>C" "" "benign" "" "0000278768" "0" "10" "16" "67976886" "67976886" "subst" "0" "02330" "LCAT_000124" "g.67976886G>A" "" "" "" "LCAT(NM_000229.2):c.312-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942983G>A" "" "benign" "" "0000278769" "0" "10" "16" "67976851" "67976851" "subst" "0.00049585" "02330" "LCAT_000122" "g.67976851C>T" "" "" "" "LCAT(NM_000229.2):c.340G>A (p.V114M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942948C>T" "" "benign" "" "0000278770" "0" "50" "16" "67977970" "67977970" "subst" "0.00016552" "02330" "LCAT_000133" "g.67977970G>A" "" "" "" "LCAT(NM_000229.2):c.35C>T (p.T12M), SLC12A4(NM_005072.5):c.*773C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67944067G>A" "" "VUS" "" "0000278771" "0" "70" "16" "67976823" "67976823" "subst" "0.000243841" "02330" "LCAT_000121" "g.67976823C>T" "" "" "" "LCAT(NM_000229.2):c.368G>A (p.R123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942920C>T" "" "likely pathogenic" "" "0000278772" "0" "10" "16" "67976822" "67976822" "subst" "4.87638E-5" "02330" "LCAT_000120" "g.67976822G>A" "" "" "" "LCAT(NM_000229.2):c.369C>T (p.R123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942919G>A" "" "benign" "" "0000278773" "0" "50" "16" "67976809" "67976809" "subst" "3.65758E-5" "02330" "LCAT_000119" "g.67976809C>T" "" "" "" "LCAT(NM_000229.2):c.382G>A (p.G128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942906C>T" "" "VUS" "" "0000278774" "0" "90" "16" "67976657" "67976657" "subst" "4.08644E-5" "02330" "LCAT_000010" "g.67976657G>A" "" "" "" "LCAT(NM_000229.1):c.440C>T (p.T147I), LCAT(NM_000229.2):c.440C>T (p.T147I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942754G>A" "" "pathogenic" "" "0000278775" "0" "10" "16" "67976559" "67976559" "subst" "6.98049E-5" "02330" "LCAT_000117" "g.67976559C>T" "" "" "" "LCAT(NM_000229.2):c.523+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942656C>T" "" "benign" "" "0000278776" "0" "10" "16" "67976438" "67976438" "subst" "1.21934E-5" "02330" "LCAT_000116" "g.67976438G>A" "" "" "" "LCAT(NM_000229.2):c.576C>T (p.H192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942535G>A" "" "benign" "" "0000278777" "0" "10" "16" "67976423" "67976423" "subst" "4.06319E-6" "02330" "LCAT_000115" "g.67976423C>T" "" "" "" "LCAT(NM_000229.2):c.591G>A (p.K197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67942520C>T" "" "benign" "" "0000278778" "0" "10" "16" "67974344" "67974344" "subst" "2.45596E-5" "02330" "LCAT_000111" "g.67974344C>T" "" "" "" "LCAT(NM_000229.2):c.786G>A (p.K262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940441C>T" "" "benign" "" "0000278779" "0" "50" "16" "67974321" "67974321" "subst" "8.165E-6" "02330" "LCAT_000110" "g.67974321G>A" "" "" "" "LCAT(NM_000229.2):c.809C>T (p.T270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940418G>A" "" "VUS" "" "0000278780" "0" "70" "16" "67974309" "67974309" "subst" "0" "02330" "LCAT_000109" "g.67974309G>A" "" "" "" "LCAT(NM_000229.2):c.821C>T (p.P274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940406G>A" "" "likely pathogenic" "" "0000278781" "0" "30" "16" "67974251" "67974251" "subst" "0.000117791" "02330" "LCAT_000108" "g.67974251G>A" "" "" "" "LCAT(NM_000229.2):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940348G>A" "" "likely benign" "" "0000278782" "0" "30" "16" "67974231" "67974231" "subst" "0.000105593" "02330" "LCAT_000107" "g.67974231C>T" "" "" "" "LCAT(NM_000229.2):c.899G>A (p.R300H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940328C>T" "" "likely benign" "" "0000278783" "0" "70" "16" "67974166" "67974166" "subst" "2.03067E-5" "02330" "LCAT_000106" "g.67974166G>A" "" "" "" "LCAT(NM_000229.2):c.964C>T (p.R322C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940263G>A" "" "likely pathogenic" "" "0000278784" "0" "30" "16" "67974149" "67974149" "subst" "2.43758E-5" "02330" "LCAT_000105" "g.67974149T>G" "" "" "" "LCAT(NM_000229.2):c.981A>C (p.G327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940246T>G" "" "likely benign" "" "0000308208" "0" "30" "16" "67984892" "67984892" "subst" "8.12387E-6" "01943" "SLC12A4_000001" "g.67984892G>A" "" "" "" "SLC12A4(NM_005072.4):c.1369C>T (p.L457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67950989G>A" "" "likely benign" "" "0000324841" "0" "50" "16" "67970317" "67970317" "del" "0" "01804" "PSMB10_000001" "g.67970317del" "" "" "" "PSMB10(NM_002801.3):c.128delC (p.(Ala43GlyfsTer45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67936414del" "" "VUS" "" "0000324842" "0" "50" "16" "67995561" "67995561" "subst" "5.68662E-5" "01804" "SLC12A4_000002" "g.67995561C>T" "" "" "" "SLC12A4(NM_001145961.1):c.259G>A (p.(Val87Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67961658C>T" "" "VUS" "" "0000487018" "0" "95" "16" "67977919" "67977919" "subst" "0" "01181" "LCAT_000002" "g.67977919T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67944016T>A" "" "pathogenic" "" "0000487019" "0" "95" "16" "67976974" "67976974" "subst" "0" "01181" "LCAT_000004" "g.67976974C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67943071C>G" "" "pathogenic" "" "0000487020" "11" "95" "16" "67976788" "67976789" "delins" "0" "01181" "LCAT_000001" "g.67976788_67976789delinsTA" "" "" "" "402G>T;403T>A" "" "Unknown" "" "" "0" "" "" "g.67942885_67942886delinsTA" "" "pathogenic" "" "0000487021" "0" "95" "16" "67976657" "67976657" "subst" "4.08644E-5" "01181" "LCAT_000010" "g.67976657G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67942754G>A" "" "pathogenic" "" "0000487022" "0" "95" "16" "67976657" "67976657" "subst" "4.08644E-5" "01181" "LCAT_000010" "g.67976657G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67942754G>A" "" "pathogenic" "" "0000487023" "0" "95" "16" "67976278" "67976278" "subst" "0" "01181" "LCAT_000005" "g.67976278C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67942375C>A" "" "pathogenic" "" "0000487024" "0" "95" "16" "67974328" "67974328" "subst" "4.08587E-6" "01181" "LCAT_000006" "g.67974328G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67940425G>A" "" "pathogenic" "" "0000487025" "0" "95" "16" "67974185" "67974185" "subst" "0" "01181" "LCAT_000007" "g.67974185C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67940282C>T" "" "pathogenic" "" "0000487026" "0" "95" "16" "67974166" "67974166" "subst" "2.03067E-5" "01181" "LCAT_000003" "g.67974166G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67940263G>A" "" "pathogenic" "" "0000487027" "0" "95" "16" "67974118" "67974118" "subst" "4.07302E-6" "01181" "LCAT_000008" "g.67974118G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67940215G>A" "" "pathogenic" "" "0000487028" "0" "95" "16" "67974091" "67974091" "subst" "0.000155183" "01181" "LCAT_000009" "g.67974091G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67940188G>A" "" "pathogenic" "" "0000487029" "0" "95" "16" "67974091" "67974091" "subst" "0.000155183" "01181" "LCAT_000009" "g.67974091G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.67940188G>A" "" "pathogenic" "" "0000558759" "0" "30" "16" "67973789" "67973789" "subst" "5.36809E-5" "02330" "LCAT_000134" "g.67973789G>A" "" "" "" "LCAT(NM_000229.2):c.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67939886G>A" "" "likely benign" "" "0000558760" "0" "30" "16" "67973820" "67973820" "subst" "0.000126462" "02330" "LCAT_000135" "g.67973820G>A" "" "" "" "LCAT(NM_000229.2):c.1310C>T (p.P437L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67939917G>A" "" "likely benign" "" "0000558761" "0" "50" "16" "67973944" "67973944" "subst" "4.06283E-6" "02330" "LCAT_000136" "g.67973944G>C" "" "" "" "LCAT(NM_000229.2):c.1186C>G (p.L396V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940041G>C" "" "VUS" "" "0000558762" "0" "10" "16" "67973953" "67973953" "subst" "0.0481657" "02330" "LCAT_000137" "g.67973953G>A" "" "" "" "LCAT(NM_000229.2):c.1177C>T (p.L393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940050G>A" "" "benign" "" "0000558763" "0" "30" "16" "67973987" "67973987" "subst" "0" "02330" "LCAT_000138" "g.67973987G>C" "" "" "" "LCAT(NM_000229.2):c.1143C>G (p.G381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940084G>C" "" "likely benign" "" "0000558764" "0" "50" "16" "67974052" "67974052" "subst" "6.90945E-5" "02330" "LCAT_000139" "g.67974052G>T" "" "" "" "LCAT(NM_000229.2):c.1078C>A (p.P360T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940149G>T" "" "VUS" "" "0000558765" "0" "90" "16" "67974096" "67974096" "subst" "8.17521E-6" "02330" "LCAT_000140" "g.67974096G>A" "" "" "" "LCAT(NM_000229.2):c.1034C>T (p.T345M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940193G>A" "" "pathogenic" "" "0000558766" "0" "30" "16" "67974236" "67974236" "subst" "0" "02330" "LCAT_000141" "g.67974236T>C" "" "" "" "LCAT(NM_000229.2):c.894A>G (p.T298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940333T>C" "" "likely benign" "" "0000558767" "0" "30" "16" "67974269" "67974269" "subst" "6.50333E-5" "02330" "LCAT_000142" "g.67974269G>A" "" "" "" "LCAT(NM_000229.2):c.861C>T (p.H287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940366G>A" "" "likely benign" "" "0000558768" "0" "10" "16" "67974758" "67974758" "del" "0" "02330" "LCAT_000143" "g.67974758del" "" "" "" "LCAT(NM_000229.2):c.749-358delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940855del" "" "benign" "" "0000558770" "0" "50" "16" "67976365" "67976365" "subst" "4.06246E-6" "02330" "LCAT_000144" "g.67976365G>A" "" "" "" "LCAT(NM_000229.2):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942462G>A" "" "VUS" "" "0000558771" "0" "50" "16" "67976391" "67976391" "subst" "2.84386E-5" "02330" "LCAT_000145" "g.67976391C>G" "" "" "" "LCAT(NM_000229.2):c.623G>C (p.C208S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942488C>G" "" "VUS" "" "0000558772" "0" "30" "16" "67976393" "67976393" "subst" "4.46889E-5" "02330" "LCAT_000146" "g.67976393G>C" "" "" "" "LCAT(NM_000229.2):c.621C>G (p.G207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942490G>C" "" "likely benign" "" "0000558773" "0" "90" "16" "67976395" "67976395" "subst" "1.21872E-5" "02330" "LCAT_000147" "g.67976395C>T" "" "" "" "LCAT(NM_000229.2):c.619G>A (p.G207S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942492C>T" "" "pathogenic" "" "0000558774" "0" "30" "16" "67976586" "67976586" "subst" "1.23105E-5" "02330" "LCAT_000148" "g.67976586G>T" "" "" "" "LCAT(NM_000229.2):c.511C>A (p.R171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942683G>T" "" "likely benign" "" "0000558775" "0" "70" "16" "67976621" "67976621" "subst" "4.09162E-6" "02330" "LCAT_000149" "g.67976621C>T" "" "" "" "LCAT(NM_000229.2):c.476G>A (p.R159Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942718C>T" "" "likely pathogenic" "" "0000558776" "0" "50" "16" "67976625" "67976625" "subst" "0.000159479" "02330" "LCAT_000150" "g.67976625C>T" "" "" "" "LCAT(NM_000229.2):c.472G>A (p.V158M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942722C>T" "" "VUS" "" "0000558777" "0" "90" "16" "67976652" "67976652" "subst" "0" "02330" "LCAT_000151" "g.67976652C>T" "" "" "" "LCAT(NM_000229.2):c.445G>A (p.V149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942749C>T" "" "pathogenic" "" "0000558778" "0" "30" "16" "67976672" "67976672" "subst" "0" "02330" "LCAT_000152" "g.67976672G>T" "" "" "" "LCAT(NM_000229.2):c.428-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942769G>T" "" "likely benign" "" "0000558779" "0" "30" "16" "67976674" "67976674" "subst" "4.09095E-6" "02330" "LCAT_000153" "g.67976674G>C" "" "" "" "LCAT(NM_000229.2):c.428-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942771G>C" "" "likely benign" "" "0000558780" "0" "30" "16" "67976679" "67976679" "subst" "0.000318953" "02330" "LCAT_000154" "g.67976679G>A" "" "" "" "LCAT(NM_000229.2):c.428-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942776G>A" "" "likely benign" "" "0000558781" "0" "10" "16" "67976734" "67976734" "subst" "0.001097" "02330" "LCAT_000155" "g.67976734G>A" "" "" "" "LCAT(NM_000229.2):c.427+30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942831G>A" "" "benign" "" "0000558782" "0" "30" "16" "67976861" "67976861" "subst" "2.43839E-5" "02330" "LCAT_000156" "g.67976861G>A" "" "" "" "LCAT(NM_000229.2):c.330C>T (p.S110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942958G>A" "" "likely benign" "" "0000558783" "0" "50" "16" "67977085" "67977085" "subst" "0" "02330" "LCAT_000157" "g.67977085G>T" "" "" "" "LCAT(NM_000229.2):c.185C>A (p.A62D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943182G>T" "" "VUS" "" "0000558784" "0" "10" "16" "67977382" "67977382" "subst" "0" "02330" "LCAT_000158" "g.67977382T>C" "" "" "" "LCAT(NM_000229.2):c.155-267A>G, SLC12A4(NM_005072.5):c.*1361A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943479T>C" "" "benign" "" "0000558785" "0" "10" "16" "67977541" "67977541" "subst" "0" "02330" "LCAT_000159" "g.67977541G>C" "" "" "" "LCAT(NM_000229.2):c.154+310C>G, SLC12A4(NM_005072.5):c.*1202C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943638G>C" "" "benign" "" "0000558786" "0" "10" "16" "67977696" "67977696" "subst" "0" "02330" "LCAT_000160" "g.67977696A>C" "" "" "" "LCAT(NM_000229.2):c.154+155T>G, SLC12A4(NM_005072.5):c.*1047T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943793A>C" "" "benign" "" "0000558787" "0" "10" "16" "67977836" "67977836" "subst" "7.06904E-6" "02330" "LCAT_000161" "g.67977836C>G" "" "" "" "LCAT(NM_000229.2):c.154+15G>C, SLC12A4(NM_005072.5):c.*907G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943933C>G" "" "benign" "" "0000558788" "0" "90" "16" "67977895" "67977895" "subst" "2.72543E-5" "02330" "LCAT_000162" "g.67977895G>A" "" "" "" "LCAT(NM_000229.2):c.110C>T (p.T37M), SLC12A4(NM_005072.5):c.*848C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943992G>A" "" "pathogenic" "" "0000558789" "0" "90" "16" "67977919" "67977919" "subst" "0" "02330" "LCAT_000002" "g.67977919T>A" "" "" "" "LCAT(NM_000229.2):c.86A>T (p.N29I), SLC12A4(NM_005072.5):c.*824A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67944016T>A" "" "pathogenic" "" "0000558790" "0" "50" "16" "67977987" "67977987" "subst" "0" "02330" "LCAT_000163" "g.67977987G>A" "" "" "" "LCAT(NM_000229.2):c.18C>T (p.S6=), SLC12A4(NM_005072.5):c.*756C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67944084G>A" "" "VUS" "" "0000558791" "0" "30" "16" "67978009" "67978009" "subst" "6.93049E-6" "02330" "LCAT_000164" "g.67978009G>A" "" "" "" "LCAT(NM_000229.2):c.-5C>T, SLC12A4(NM_005072.5):c.*734C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67944106G>A" "" "likely benign" "" "0000601052" "11" "70" "16" "67976320" "67976320" "subst" "0.0175759" "00006" "LCAT_000113" "g.67976320A>T" "" "{PMID:Wong 2019:31617323}, {DOI:Wong 2019:10.1002/mgg3.1007}" "" "" "" "Germline" "" "" "0" "" "" "g.67942417A>T" "" "VUS" "" "0000616080" "0" "50" "16" "67974113" "67974113" "subst" "6.1188E-5" "02330" "LCAT_000170" "g.67974113G>A" "" "" "" "LCAT(NM_000229.2):c.1017C>T (p.Y339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940210G>A" "" "VUS" "" "0000616081" "0" "50" "16" "67974195" "67974195" "subst" "0" "02330" "LCAT_000171" "g.67974195T>C" "" "" "" "LCAT(NM_000229.2):c.935A>G (p.E312G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940292T>C" "" "VUS" "" "0000616082" "0" "50" "16" "67976612" "67976612" "subst" "0" "02330" "LCAT_000173" "g.67976612G>A" "" "" "" "LCAT(NM_000229.2):c.485C>T (p.T162I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942709G>A" "" "VUS" "" "0000616083" "0" "30" "16" "67976622" "67976622" "subst" "0" "02330" "LCAT_000174" "g.67976622G>T" "" "" "" "LCAT(NM_000229.2):c.475C>A (p.R159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942719G>T" "" "likely benign" "" "0000616084" "0" "30" "16" "67976673" "67976673" "subst" "3.27362E-5" "01943" "LCAT_000175" "g.67976673T>C" "" "" "" "LCAT(NM_000229.1):c.428-4A>G, LCAT(NM_000229.2):c.428-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942770T>C" "" "likely benign" "" "0000616085" "0" "70" "16" "67976973" "67976973" "subst" "0" "02330" "LCAT_000176" "g.67976973C>G" "" "" "" "LCAT(NM_000229.2):c.297G>C (p.W99C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943070C>G" "" "likely pathogenic" "" "0000616086" "0" "30" "16" "67977886" "67977886" "subst" "0" "01943" "LCAT_000177" "g.67977886G>A" "" "" "" "LCAT(NM_000229.1):c.119C>T (p.A40V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67943983G>A" "" "likely benign" "" "0000623507" "0" "30" "16" "67976428" "67976428" "subst" "8.12711E-6" "02330" "LCAT_000172" "g.67976428C>T" "" "" "" "LCAT(NM_000229.2):c.586G>A (p.G196R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942525C>T" "" "likely benign" "" "0000623508" "0" "10" "16" "67978018" "67978018" "subst" "0.000125144" "02330" "LCAT_000178" "g.67978018C>A" "" "" "" "SLC12A4(NM_005072.5):c.*725G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67944115C>A" "" "benign" "" "0000649377" "1" "30" "16" "67973953" "67973953" "subst" "0.0481657" "03575" "LCAT_000137" "g.67973953G>A" "140/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "140 heterozygous; {DB:CLININrs5923}" "Germline" "" "rs5923" "0" "" "" "g.67940050G>A" "" "likely benign" "" "0000649378" "1" "90" "16" "67974018" "67974018" "subst" "4.06782E-6" "03575" "LCAT_000179" "g.67974018G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908053}" "Germline" "" "rs121908053" "0" "" "" "g.67940115G>A" "" "pathogenic" "" "0000649379" "1" "90" "16" "67976657" "67976657" "subst" "4.08644E-5" "03575" "LCAT_000010" "g.67976657G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121908050}" "Germline" "" "rs121908050" "0" "" "" "g.67942754G>A" "" "pathogenic" "" "0000657905" "0" "50" "16" "67974219" "67974219" "subst" "0" "02330" "LCAT_000180" "g.67974219C>T" "" "" "" "LCAT(NM_000229.2):c.911G>A (p.R304H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940316C>T" "" "VUS" "" "0000657906" "0" "30" "16" "67976250" "67976250" "subst" "0" "02330" "LCAT_000181" "g.67976250T>A" "" "" "" "LCAT(NM_000229.2):c.748+16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942347T>A" "" "likely benign" "" "0000657907" "0" "30" "16" "67976253" "67976253" "subst" "0" "02330" "LCAT_000182" "g.67976253G>A" "" "" "" "LCAT(NM_000229.2):c.748+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942350G>A" "" "likely benign" "" "0000657908" "0" "50" "16" "67976657" "67976657" "subst" "4.08644E-5" "01943" "LCAT_000010" "g.67976657G>A" "" "" "" "LCAT(NM_000229.1):c.440C>T (p.T147I), LCAT(NM_000229.2):c.440C>T (p.T147I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67942754G>A" "" "VUS" "" "0000669347" "3" "30" "16" "67973953" "67973953" "subst" "0.0481657" "03575" "LCAT_000137" "g.67973953G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs5923}" "Germline" "" "rs5923" "0" "" "" "g.67940050G>A" "" "likely benign" "" "0000680630" "0" "30" "16" "67974158" "67974158" "subst" "0" "02330" "LCAT_000183" "g.67974158G>A" "" "" "" "LCAT(NM_000229.2):c.972C>T (p.L324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692109" "0" "50" "16" "67976428" "67976428" "subst" "8.12711E-6" "02325" "LCAT_000172" "g.67976428C>T" "" "" "" "LCAT(NM_000229.2):c.586G>A (p.G196R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692110" "0" "50" "16" "67976498" "67976498" "subst" "8.167E-6" "02330" "LCAT_000184" "g.67976498G>A" "" "" "" "LCAT(NM_000229.2):c.524-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692111" "0" "30" "16" "67976822" "67976822" "subst" "0" "02330" "LCAT_000185" "g.67976822G>T" "" "" "" "LCAT(NM_000229.2):c.369C>A (p.R123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725904" "0" "30" "16" "67973788" "67973788" "subst" "0" "02330" "LCAT_000186" "g.67973788C>T" "" "" "" "LCAT(NM_000229.2):c.*19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725905" "0" "50" "16" "67974030" "67974030" "subst" "0" "02330" "LCAT_000187" "g.67974030T>C" "" "" "" "LCAT(NM_000229.2):c.1100A>G (p.D367G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725906" "0" "30" "16" "67974251" "67974251" "subst" "0.000117791" "02326" "LCAT_000108" "g.67974251G>A" "" "" "" "LCAT(NM_000229.2):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725907" "0" "30" "16" "67976417" "67976417" "subst" "6.09409E-5" "02330" "LCAT_000188" "g.67976417G>A" "" "" "" "LCAT(NM_000229.2):c.597C>T (p.V199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725908" "0" "30" "16" "67976437" "67976437" "subst" "4.06445E-6" "02330" "LCAT_000189" "g.67976437C>T" "" "" "" "LCAT(NM_000229.2):c.577G>A (p.A193T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725909" "0" "50" "16" "67976499" "67976499" "subst" "0" "02330" "LCAT_000190" "g.67976499G>T" "" "" "" "LCAT(NM_000229.2):c.524-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725910" "0" "30" "16" "67976602" "67976602" "subst" "0.000155834" "02330" "LCAT_000191" "g.67976602G>A" "" "" "" "LCAT(NM_000229.2):c.495C>T (p.A165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725911" "0" "90" "16" "67976657" "67976657" "subst" "4.08644E-5" "02325" "LCAT_000010" "g.67976657G>A" "" "" "" "LCAT(NM_000229.1):c.440C>T (p.T147I), LCAT(NM_000229.2):c.440C>T (p.T147I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807515" "0" "70" "16" "67974117" "67974117" "subst" "0" "02330" "LCAT_000192" "g.67974117A>T" "" "" "" "LCAT(NM_000229.2):c.1013T>A (p.L338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807516" "0" "30" "16" "67974134" "67974134" "subst" "0" "02330" "LCAT_000193" "g.67974134A>G" "" "" "" "LCAT(NM_000229.2):c.996T>C (p.G332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807517" "0" "10" "16" "67974755" "67974758" "del" "0" "02330" "LCAT_000194" "g.67974755_67974758del" "" "" "" "LCAT(NM_000229.2):c.749-361_749-358delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807518" "0" "30" "16" "67976402" "67976402" "subst" "0" "02330" "LCAT_000195" "g.67976402G>A" "" "" "" "LCAT(NM_000229.2):c.612C>T (p.H204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807519" "0" "90" "16" "67976634" "67976634" "subst" "0" "02330" "LCAT_000196" "g.67976634T>C" "" "" "" "LCAT(NM_000229.2):c.463A>G (p.N155D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807520" "0" "50" "16" "67976815" "67976815" "subst" "4.06369E-6" "02330" "LCAT_000197" "g.67976815C>T" "" "" "" "LCAT(NM_000229.2):c.376G>A (p.G126S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807521" "0" "30" "16" "67976876" "67976876" "subst" "0" "01943" "LCAT_000198" "g.67976876A>G" "" "" "" "LCAT(NM_000229.1):c.315T>C (p.V105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807522" "0" "30" "16" "67976888" "67976888" "subst" "0" "02330" "LCAT_000199" "g.67976888C>G" "" "" "" "LCAT(NM_000229.2):c.312-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807523" "0" "30" "16" "67976951" "67976951" "subst" "8.12526E-6" "02330" "LCAT_000200" "g.67976951G>A" "" "" "" "LCAT(NM_000229.2):c.311+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807524" "0" "30" "16" "67977993" "67977993" "subst" "0" "02330" "LCAT_000201" "g.67977993G>A" "" "" "" "LCAT(NM_000229.2):c.12C>T (p.P4=), SLC12A4(NM_005072.5):c.*750C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807525" "0" "30" "16" "68002391" "68002391" "subst" "0.000484683" "01804" "LCAT_000202" "g.68002391C>A" "" "" "" "SLC12A4(NM_005072.4):c.66G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854587" "0" "50" "16" "67973896" "67973896" "subst" "1.62501E-5" "02330" "LCAT_000204" "g.67973896C>T" "" "" "" "LCAT(NM_000229.2):c.1234G>A (p.E412K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854588" "0" "30" "16" "67974257" "67974257" "subst" "0" "02330" "LCAT_000205" "g.67974257G>C" "" "" "" "LCAT(NM_000229.2):c.873C>G (p.S291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854589" "0" "30" "16" "67976378" "67976378" "subst" "0" "02330" "LCAT_000207" "g.67976378G>C" "" "" "" "LCAT(NM_000229.2):c.636C>G (p.L212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854590" "0" "30" "16" "67976417" "67976417" "subst" "6.09409E-5" "02326" "LCAT_000188" "g.67976417G>A" "" "" "" "LCAT(NM_000229.2):c.597C>T (p.V199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854591" "0" "50" "16" "67976633" "67976633" "subst" "0" "02330" "LCAT_000209" "g.67976633T>C" "" "" "" "LCAT(NM_000229.2):c.464A>G (p.N155S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854592" "0" "30" "16" "67976673" "67976673" "subst" "3.27362E-5" "02330" "LCAT_000175" "g.67976673T>C" "" "" "" "LCAT(NM_000229.1):c.428-4A>G, LCAT(NM_000229.2):c.428-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854593" "0" "50" "16" "67976867" "67976867" "subst" "0" "02330" "LCAT_000210" "g.67976867G>T" "" "" "" "LCAT(NM_000229.2):c.324C>A (p.N108K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864893" "0" "50" "16" "67973803" "67973803" "subst" "3.68327E-5" "02330" "LCAT_000203" "g.67973803G>T" "" "" "" "LCAT(NM_000229.2):c.*4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864894" "0" "10" "16" "67974757" "67974758" "del" "0" "02330" "LCAT_000206" "g.67974757_67974758del" "" "" "" "LCAT(NM_000229.2):c.749-359_749-358delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000864895" "0" "30" "16" "67976396" "67976396" "subst" "7.71906E-5" "02330" "LCAT_000208" "g.67976396G>A" "" "" "" "LCAT(NM_000229.2):c.618C>T (p.L206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864896" "0" "30" "16" "67976899" "67976899" "subst" "4.06745E-6" "02330" "LCAT_000211" "g.67976899C>G" "" "" "" "LCAT(NM_000229.2):c.312-20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864897" "0" "30" "16" "67977997" "67977997" "subst" "6.91898E-5" "02330" "LCAT_000212" "g.67977997G>A" "" "" "" "LCAT(NM_000229.2):c.8C>T (p.P3L), SLC12A4(NM_005072.5):c.*746C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893121" "0" "30" "16" "67974017" "67974017" "subst" "4.47449E-5" "02330" "LCAT_000213" "g.67974017C>T" "" "" "" "LCAT(NM_000229.2):c.1113G>A (p.T371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893122" "0" "50" "16" "67974098" "67974104" "del" "0" "02330" "LCAT_000214" "g.67974098_67974104del" "" "" "" "LCAT(NM_000229.2):c.1026_1032delCCTGCCC (p.L343Rfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893123" "0" "50" "16" "67974109" "67974109" "subst" "6.11651E-5" "02330" "LCAT_000215" "g.67974109C>T" "" "" "" "LCAT(NM_000229.2):c.1021G>A (p.V341M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893124" "0" "30" "16" "67974227" "67974227" "subst" "0.000166504" "02330" "LCAT_000216" "g.67974227G>A" "" "" "" "LCAT(NM_000229.2):c.903C>T (p.D301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893125" "0" "30" "16" "67974314" "67974314" "subst" "4.07624E-6" "02330" "LCAT_000217" "g.67974314G>A" "" "" "" "LCAT(NM_000229.2):c.816C>T (p.T272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893126" "0" "50" "16" "67976294" "67976294" "subst" "0" "02330" "LCAT_000218" "g.67976294G>A" "" "" "" "LCAT(NM_000229.2):c.720C>T (p.S240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893127" "0" "30" "16" "67976855" "67976855" "subst" "2.03211E-5" "02330" "LCAT_000219" "g.67976855C>T" "" "" "" "LCAT(NM_000229.2):c.336G>A (p.G112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893128" "0" "30" "16" "67976893" "67976893" "del" "0" "02326" "LCAT_000125" "g.67976893del" "" "" "" "LCAT(NM_000229.2):c.312-10delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893129" "0" "50" "16" "67977862" "67977862" "subst" "0" "02330" "LCAT_000220" "g.67977862G>C" "" "" "" "LCAT(NM_000229.2):c.143C>G (p.P48R), SLC12A4(NM_005072.5):c.*881C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914665" "0" "30" "16" "67973957" "67973957" "subst" "8.12896E-6" "02330" "LCAT_000221" "g.67973957C>T" "" "" "" "LCAT(NM_000229.2):c.1173G>A (p.V391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914666" "0" "50" "16" "67973973" "67973973" "subst" "2.55796E-5" "02330" "LCAT_000222" "g.67973973C>T" "" "" "" "LCAT(NM_000229.2):c.1157G>A (p.R386H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914667" "0" "90" "16" "67976586" "67976586" "subst" "0" "02330" "LCAT_000223" "g.67976586G>A" "" "" "" "LCAT(NM_000229.2):c.511C>T (p.R171W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914668" "0" "70" "16" "67976965" "67976965" "subst" "0" "02330" "LCAT_000224" "g.67976965T>G" "" "" "" "LCAT(NM_000229.2):c.305A>C (p.N102T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914669" "0" "90" "16" "67976974" "67976974" "subst" "0" "02325" "LCAT_000004" "g.67976974C>G" "" "" "" "LCAT(NM_000229.2):c.296G>C (p.W99S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926322" "0" "50" "16" "67973938" "67973938" "subst" "3.25034E-5" "02330" "LCAT_000225" "g.67973938C>T" "" "" "" "LCAT(NM_000229.2):c.1192G>A (p.G398R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926323" "0" "30" "16" "67974095" "67974095" "subst" "3.71839E-5" "02330" "LCAT_000226" "g.67974095C>T" "" "" "" "LCAT(NM_000229.2):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926324" "0" "30" "16" "67974101" "67974101" "subst" "0" "02330" "LCAT_000227" "g.67974101C>G" "" "" "" "LCAT(NM_000229.2):c.1029G>C (p.L343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926325" "0" "90" "16" "67974133" "67974133" "subst" "4.06415E-6" "02330" "LCAT_000228" "g.67974133C>T" "" "" "" "LCAT(NM_000229.2):c.997G>A (p.V333M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926326" "0" "30" "16" "67976248" "67976248" "subst" "3.66506E-5" "02330" "LCAT_000229" "g.67976248T>C" "" "" "" "LCAT(NM_000229.2):c.748+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926327" "0" "30" "16" "67976626" "67976626" "subst" "2.45403E-5" "02330" "LCAT_000230" "g.67976626G>A" "" "" "" "LCAT(NM_000229.2):c.471C>T (p.Y157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926328" "0" "90" "16" "67976634" "67976634" "subst" "0" "02325" "LCAT_000196" "g.67976634T>C" "" "" "" "LCAT(NM_000229.2):c.463A>G (p.N155D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930638" "0" "30" "16" "67973993" "67973993" "subst" "4.07173E-6" "02330" "LCAT_000231" "g.67973993G>A" "" "" "" "LCAT(NM_000229.2):c.1137C>T (p.L379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930639" "0" "70" "16" "67974327" "67974327" "subst" "3.67746E-5" "02330" "LCAT_000232" "g.67974327C>T" "" "" "" "LCAT(NM_000229.2):c.803G>A (p.R268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930640" "0" "50" "16" "67977043" "67977043" "subst" "8.12308E-6" "02330" "LCAT_000233" "g.67977043C>T" "" "" "" "LCAT(NM_000229.2):c.227G>A (p.R76H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950699" "0" "30" "16" "67976692" "67976692" "subst" "0.0177326" "02330" "LCAT_000234" "g.67976692G>T" "" "" "" "LCAT(NM_000229.2):c.428-23C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950700" "0" "30" "16" "67976783" "67976783" "subst" "0" "02330" "LCAT_000235" "g.67976783C>T" "" "" "" "LCAT(NM_000229.2):c.408G>A (p.L136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950701" "0" "90" "16" "67976870" "67976870" "subst" "2.43863E-5" "02330" "LCAT_000236" "g.67976870G>T" "" "" "" "LCAT(NM_000229.2):c.321C>A (p.Y107*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000968450" "0" "50" "16" "67974325" "67974325" "subst" "0" "02330" "LCAT_000237" "g.67974325T>C" "" "" "" "LCAT(NM_000229.2):c.805A>G (p.I269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968451" "0" "30" "16" "67976252" "67976252" "subst" "2.03555E-5" "02330" "LCAT_000238" "g.67976252C>T" "" "" "" "LCAT(NM_000229.2):c.748+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968452" "0" "50" "16" "67976557" "67976557" "subst" "2.46243E-5" "02330" "LCAT_000239" "g.67976557T>C" "" "" "" "LCAT(NM_000229.2):c.523+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981997" "0" "50" "16" "67974058" "67974058" "subst" "0" "02330" "LCAT_000240" "g.67974058T>C" "" "" "" "LCAT(NM_000229.2):c.1072A>G (p.T358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981998" "0" "90" "16" "67974303" "67974303" "subst" "0" "02330" "LCAT_000241" "g.67974303A>T" "" "" "" "LCAT(NM_000229.2):c.827T>A (p.M276K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000981999" "0" "50" "16" "67991852" "67991852" "subst" "0" "01804" "LCAT_000242" "g.67991852G>A" "" "" "" "SLC12A4(NM_005072.5):c.438C>T (p.(Gly146=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002490" "0" "50" "16" "67969976" "67969977" "ins" "0" "01804" "CTRL_000007" "g.67969976_67969977insTA" "" "" "" "PSMB10(NM_002801.3):c.272_273insTA (p.(Glu92fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002491" "0" "50" "16" "67976407" "67976407" "subst" "1.21877E-5" "02330" "LCAT_000243" "g.67976407C>T" "" "" "" "LCAT(NM_000229.2):c.607G>A (p.G203S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002492" "0" "50" "16" "67977104" "67977104" "subst" "0" "02330" "LCAT_000244" "g.67977104G>C" "" "" "" "LCAT(NM_000229.2):c.166C>G (p.L56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002493" "0" "50" "16" "67977914" "67977914" "subst" "0" "02330" "LCAT_000245" "g.67977914G>A" "" "" "" "LCAT(NM_000229.2):c.91C>T (p.L31F), SLC12A4(NM_005072.5):c.*829C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002494" "0" "30" "16" "67977999" "67977999" "subst" "0" "02330" "LCAT_000246" "g.67977999C>T" "" "" "" "LCAT(NM_000229.2):c.6G>A (p.G2=), SLC12A4(NM_005072.5):c.*744G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002495" "0" "50" "16" "67984269" "67984269" "subst" "1.21967E-5" "01804" "LCAT_000247" "g.67984269G>A" "" "" "" "SLC12A4(NM_005072.4):c.1582C>T (p.(Arg528Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015411" "0" "70" "16" "67973962" "67973962" "subst" "6.10864E-5" "02330" "LCAT_000248" "g.67973962G>A" "" "" "" "LCAT(NM_000229.2):c.1168C>T (p.P390S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015412" "0" "30" "16" "67973999" "67973999" "subst" "1.22116E-5" "02330" "LCAT_000249" "g.67973999G>A" "" "" "" "LCAT(NM_000229.2):c.1131C>T (p.T377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015413" "0" "30" "16" "67974296" "67974296" "subst" "0" "02330" "LCAT_000250" "g.67974296G>A" "" "" "" "LCAT(NM_000229.2):c.834C>T (p.P278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015414" "0" "50" "16" "67976470" "67976470" "subst" "2.03414E-5" "02330" "LCAT_000251" "g.67976470G>A" "" "" "" "LCAT(NM_000229.2):c.544C>T (p.R182C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026736" "0" "30" "16" "67973819" "67973819" "subst" "0" "02330" "LCAT_000252" "g.67973819C>T" "" "" "" "LCAT(NM_000229.2):c.1311G>A (p.P437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026737" "0" "50" "16" "67974002" "67974002" "subst" "0" "02330" "LCAT_000253" "g.67974002G>T" "" "" "" "LCAT(NM_000229.2):c.1128C>A (p.S376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026738" "0" "50" "16" "67974003" "67974003" "subst" "0" "02330" "LCAT_000254" "g.67974003C>T" "" "" "" "LCAT(NM_000229.2):c.1127G>A (p.S376N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026739" "0" "50" "16" "67974204" "67974204" "subst" "0" "02330" "LCAT_000255" "g.67974204A>G" "" "" "" "LCAT(NM_000229.2):c.926T>C (p.L309P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026740" "0" "30" "16" "67976560" "67976560" "subst" "2.87451E-5" "02330" "LCAT_000256" "g.67976560G>A" "" "" "" "LCAT(NM_000229.2):c.523+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041264" "0" "50" "16" "67974002" "67974002" "subst" "0" "02325" "LCAT_000253" "g.67974002G>T" "" "" "" "LCAT(NM_000229.2):c.1128C>A (p.S376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041265" "0" "50" "16" "67974003" "67974003" "subst" "0" "02325" "LCAT_000254" "g.67974003C>T" "" "" "" "LCAT(NM_000229.2):c.1127G>A (p.S376N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041266" "0" "50" "16" "67976842" "67976842" "subst" "1.21917E-5" "02330" "LCAT_000257" "g.67976842C>T" "" "" "" "LCAT(NM_000229.2):c.349G>A (p.A117T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes LCAT ## Count = 185 "{{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}}" "0000222892" "00010992" "90" "440" "0" "440" "0" "c.440C>T" "r.440c>u" "p.Thr147Ile" "4" "0000222893" "00010992" "90" "524" "-22" "524" "-22" "c.524-22T>C" "r.523_524ins[523+1_524-23;c;524-21_524-1]" "p.Gln176Glufs*6" "4i" "0000247375" "00010992" "10" "694" "0" "694" "0" "c.694T>A" "r.(?)" "p.(Ser232Thr)" "" "0000247402" "00010992" "70" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Val133Ala)" "" "0000247404" "00010992" "90" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Ile202Thr)" "" "0000247407" "00010992" "90" "698" "0" "698" "0" "c.698T>C" "r.(?)" "p.(Leu233Pro)" "" "0000247408" "00010992" "90" "167" "0" "167" "0" "c.167T>C" "r.(?)" "p.(Leu56Pro)" "" "0000247421" "00010992" "50" "209" "0" "209" "0" "c.209T>C" "r.(?)" "p.(Val70Ala)" "" "0000256243" "00010992" "50" "80" "0" "80" "0" "c.80T>C" "r.(?)" "p.(Leu27Pro)" "" "0000278759" "00010992" "90" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Pro34Gln)" "" "0000278760" "00010992" "90" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Pro34Leu)" "" "0000278761" "00010992" "50" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Pro34=)" "" "0000278763" "00010992" "10" "1056" "0" "1056" "0" "c.1056C>T" "r.(?)" "p.(Asp352=)" "" "0000278764" "00010992" "30" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Glu378Lys)" "" "0000278765" "00010992" "90" "138" "0" "139" "0" "c.138_139del" "r.(?)" "p.(Arg47AlafsTer55)" "" "0000278766" "00010992" "10" "312" "-10" "312" "-10" "c.312-10del" "r.(=)" "p.(=)" "" "0000278767" "00010992" "10" "312" "-5" "312" "-5" "c.312-5C>G" "r.spl?" "p.?" "" "0000278768" "00010992" "10" "312" "-7" "312" "-7" "c.312-7C>T" "r.(=)" "p.(=)" "" "0000278769" "00010992" "10" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Met)" "" "0000278770" "00010992" "50" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Thr12Met)" "" "0000278771" "00010992" "70" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123His)" "" "0000278772" "00010992" "10" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Arg123=)" "" "0000278773" "00010992" "50" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Gly128Ser)" "" "0000278774" "00010992" "90" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "" "0000278775" "00010992" "10" "523" "15" "523" "15" "c.523+15G>A" "r.(=)" "p.(=)" "" "0000278776" "00010992" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(His192=)" "" "0000278777" "00010992" "10" "591" "0" "591" "0" "c.591G>A" "r.(?)" "p.(Lys197=)" "" "0000278778" "00010992" "10" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Lys262=)" "" "0000278779" "00010992" "50" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Thr270Ile)" "" "0000278780" "00010992" "70" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Pro274Leu)" "" "0000278781" "00010992" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Pro293=)" "" "0000278782" "00010992" "30" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300His)" "" "0000278783" "00010992" "70" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Cys)" "" "0000278784" "00010992" "30" "981" "0" "981" "0" "c.981A>C" "r.(?)" "p.(Gly327=)" "" "0000308208" "00010992" "30" "-6888" "0" "-6888" "0" "c.-6888C>T" "r.(?)" "p.(=)" "" "0000324841" "00010992" "50" "4813" "0" "4813" "0" "c.*3490del" "r.(?)" "p.(=)" "" "0000324842" "00010992" "50" "-17557" "0" "-17557" "0" "c.-17557G>A" "r.(?)" "p.(=)" "" "0000487018" "00010992" "95" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "1" "0000487019" "00010992" "95" "296" "0" "296" "0" "c.296G>C" "r.(?)" "p.(Trp99Ser)" "2" "0000487020" "00010992" "95" "402" "0" "403" "0" "c.402_403delinsTA" "r.(?)" "p.(Glu134_Tyr135delinsAspAsn)" "3" "0000487021" "00010992" "95" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "4" "0000487022" "00010992" "95" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "4" "0000487023" "00010992" "95" "736" "0" "736" "0" "c.736G>T" "r.(?)" "p.(Val246Phe)" "5" "0000487024" "00010992" "95" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Cys)" "6" "0000487025" "00010992" "95" "945" "0" "945" "0" "c.945G>A" "r.(?)" "p.(Trp315*)" "6" "0000487026" "00010992" "95" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Cys)" "6" "0000487027" "00010992" "95" "1012" "0" "1012" "0" "c.1012C>T" "r.(?)" "p.(Leu338Phe)" "6" "0000487028" "00010992" "95" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Cys)" "6" "0000487029" "00010992" "95" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Cys)" "6" "0000558759" "00010992" "30" "1341" "0" "1341" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "0000558760" "00010992" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "" "0000558761" "00010992" "50" "1186" "0" "1186" "0" "c.1186C>G" "r.(?)" "p.(Leu396Val)" "" "0000558762" "00010992" "10" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Leu393=)" "" "0000558763" "00010992" "30" "1143" "0" "1143" "0" "c.1143C>G" "r.(?)" "p.(Gly381=)" "" "0000558764" "00010992" "50" "1078" "0" "1078" "0" "c.1078C>A" "r.(?)" "p.(Pro360Thr)" "" "0000558765" "00010992" "90" "1034" "0" "1034" "0" "c.1034C>T" "r.(?)" "p.(Thr345Met)" "" "0000558766" "00010992" "30" "894" "0" "894" "0" "c.894A>G" "r.(?)" "p.(Thr298=)" "" "0000558767" "00010992" "30" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(His287=)" "" "0000558768" "00010992" "10" "749" "-358" "749" "-358" "c.749-358del" "r.(=)" "p.(=)" "" "0000558770" "00010992" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "0000558771" "00010992" "50" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Cys208Ser)" "" "0000558772" "00010992" "30" "621" "0" "621" "0" "c.621C>G" "r.(?)" "p.(Gly207=)" "" "0000558773" "00010992" "90" "619" "0" "619" "0" "c.619G>A" "r.(?)" "p.(Gly207Ser)" "" "0000558774" "00010992" "30" "511" "0" "511" "0" "c.511C>A" "r.(?)" "p.(Arg171=)" "" "0000558775" "00010992" "70" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159Gln)" "" "0000558776" "00010992" "50" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Val158Met)" "" "0000558777" "00010992" "90" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Met)" "" "0000558778" "00010992" "30" "428" "-3" "428" "-3" "c.428-3C>A" "r.spl?" "p.?" "" "0000558779" "00010992" "30" "428" "-5" "428" "-5" "c.428-5C>G" "r.spl?" "p.?" "" "0000558780" "00010992" "30" "428" "-10" "428" "-10" "c.428-10C>T" "r.(=)" "p.(=)" "" "0000558781" "00010992" "10" "427" "30" "427" "30" "c.427+30C>T" "r.(=)" "p.(=)" "" "0000558782" "00010992" "30" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ser110=)" "" "0000558783" "00010992" "50" "185" "0" "185" "0" "c.185C>A" "r.(?)" "p.(Ala62Asp)" "" "0000558784" "00010992" "10" "155" "-267" "155" "-267" "c.155-267A>G" "r.(=)" "p.(=)" "" "0000558785" "00010992" "10" "154" "310" "154" "310" "c.154+310C>G" "r.(=)" "p.(=)" "" "0000558786" "00010992" "10" "154" "155" "154" "155" "c.154+155T>G" "r.(=)" "p.(=)" "" "0000558787" "00010992" "10" "154" "15" "154" "15" "c.154+15G>C" "r.(=)" "p.(=)" "" "0000558788" "00010992" "90" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Thr37Met)" "" "0000558789" "00010992" "90" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "" "0000558790" "00010992" "50" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Ser6=)" "" "0000558791" "00010992" "30" "-5" "0" "-5" "0" "c.-5C>T" "r.(?)" "p.(=)" "" "0000601052" "00010992" "70" "694" "0" "694" "0" "c.694T>A" "r.(?)" "p.(Ser232Thr)" "" "0000616080" "00010992" "50" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Tyr339=)" "" "0000616081" "00010992" "50" "935" "0" "935" "0" "c.935A>G" "r.(?)" "p.(Glu312Gly)" "" "0000616082" "00010992" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Thr162Ile)" "" "0000616083" "00010992" "30" "475" "0" "475" "0" "c.475C>A" "r.(?)" "p.(Arg159=)" "" "0000616084" "00010992" "30" "428" "-4" "428" "-4" "c.428-4A>G" "r.spl?" "p.?" "" "0000616085" "00010992" "70" "297" "0" "297" "0" "c.297G>C" "r.(?)" "p.(Trp99Cys)" "" "0000616086" "00010992" "30" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Ala40Val)" "" "0000623507" "00010992" "30" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Gly196Arg)" "" "0000623508" "00010992" "10" "-14" "0" "-14" "0" "c.-14G>T" "r.(?)" "p.(=)" "" "0000649377" "00010992" "30" "1177" "0" "1177" "0" "c.1177C>T" "r.(=)" "p.(=)" "" "0000649378" "00010992" "90" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Met)" "" "0000649379" "00010992" "90" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "" "0000657905" "00010992" "50" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Arg304His)" "" "0000657906" "00010992" "30" "748" "16" "748" "16" "c.748+16A>T" "r.(=)" "p.(=)" "" "0000657907" "00010992" "30" "748" "13" "748" "13" "c.748+13C>T" "r.(=)" "p.(=)" "" "0000657908" "00010992" "50" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "" "0000669347" "00010992" "30" "1177" "0" "1177" "0" "c.1177C>T" "r.(=)" "p.(=)" "" "0000680630" "00010992" "30" "972" "0" "972" "0" "c.972C>T" "r.(?)" "p.(Leu324=)" "" "0000692109" "00010992" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Gly196Arg)" "" "0000692110" "00010992" "50" "524" "-8" "524" "-8" "c.524-8C>T" "r.(=)" "p.(=)" "" "0000692111" "00010992" "30" "369" "0" "369" "0" "c.369C>A" "r.(?)" "p.(Arg123=)" "" "0000725904" "00010992" "30" "1342" "0" "1342" "0" "c.*19G>A" "r.(=)" "p.(=)" "" "0000725905" "00010992" "50" "1100" "0" "1100" "0" "c.1100A>G" "r.(?)" "p.(Asp367Gly)" "" "0000725906" "00010992" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Pro293=)" "" "0000725907" "00010992" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Val199=)" "" "0000725908" "00010992" "30" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Ala193Thr)" "" "0000725909" "00010992" "50" "524" "-9" "524" "-9" "c.524-9C>A" "r.(=)" "p.(=)" "" "0000725910" "00010992" "30" "495" "0" "495" "0" "c.495C>T" "r.(?)" "p.(Ala165=)" "" "0000725911" "00010992" "90" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Thr147Ile)" "" "0000807515" "00010992" "70" "1013" "0" "1013" "0" "c.1013T>A" "r.(?)" "p.(Leu338His)" "" "0000807516" "00010992" "30" "996" "0" "996" "0" "c.996T>C" "r.(?)" "p.(Gly332=)" "" "0000807517" "00010992" "10" "749" "-361" "749" "-358" "c.749-361_749-358del" "r.(=)" "p.(=)" "" "0000807518" "00010992" "30" "612" "0" "612" "0" "c.612C>T" "r.(?)" "p.(His204=)" "" "0000807519" "00010992" "90" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Asn155Asp)" "" "0000807520" "00010992" "50" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Gly126Ser)" "" "0000807521" "00010992" "30" "315" "0" "315" "0" "c.315T>C" "r.(?)" "p.(Val105=)" "" "0000807522" "00010992" "30" "312" "-9" "312" "-9" "c.312-9G>C" "r.(=)" "p.(=)" "" "0000807523" "00010992" "30" "311" "8" "311" "8" "c.311+8C>T" "r.(=)" "p.(=)" "" "0000807524" "00010992" "30" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Pro4=)" "" "0000807525" "00010992" "30" "-24387" "0" "-24387" "0" "c.-24387G>T" "r.(?)" "p.(=)" "" "0000854587" "00010992" "50" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Glu412Lys)" "" "0000854588" "00010992" "30" "873" "0" "873" "0" "c.873C>G" "r.(?)" "p.(Ser291=)" "" "0000854589" "00010992" "30" "636" "0" "636" "0" "c.636C>G" "r.(?)" "p.(Leu212=)" "" "0000854590" "00010992" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Val199=)" "" "0000854591" "00010992" "50" "464" "0" "464" "0" "c.464A>G" "r.(?)" "p.(Asn155Ser)" "" "0000854592" "00010992" "30" "428" "-4" "428" "-4" "c.428-4A>G" "r.spl?" "p.?" "" "0000854593" "00010992" "50" "324" "0" "324" "0" "c.324C>A" "r.(?)" "p.(Asn108Lys)" "" "0000864893" "00010992" "50" "1327" "0" "1327" "0" "c.*4C>A" "r.(=)" "p.(=)" "" "0000864894" "00010992" "10" "749" "-359" "749" "-358" "c.749-359_749-358del" "r.(=)" "p.(=)" "" "0000864895" "00010992" "30" "618" "0" "618" "0" "c.618C>T" "r.(?)" "p.(Leu206=)" "" "0000864896" "00010992" "30" "312" "-20" "312" "-20" "c.312-20G>C" "r.(=)" "p.(=)" "" "0000864897" "00010992" "30" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Pro3Leu)" "" "0000893121" "00010992" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Thr371=)" "" "0000893122" "00010992" "50" "1026" "0" "1032" "0" "c.1026_1032del" "r.(?)" "p.(Leu343Argfs*65)" "" "0000893123" "00010992" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Met)" "" "0000893124" "00010992" "30" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(Asp301=)" "" "0000893125" "00010992" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Thr272=)" "" "0000893126" "00010992" "50" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Ser240=)" "" "0000893127" "00010992" "30" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Gly112=)" "" "0000893128" "00010992" "30" "312" "-10" "312" "-10" "c.312-10del" "r.(=)" "p.(=)" "" "0000893129" "00010992" "50" "143" "0" "143" "0" "c.143C>G" "r.(?)" "p.(Pro48Arg)" "" "0000914665" "00010992" "30" "1173" "0" "1173" "0" "c.1173G>A" "r.(?)" "p.(Val391=)" "" "0000914666" "00010992" "50" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386His)" "" "0000914667" "00010992" "90" "511" "0" "511" "0" "c.511C>T" "r.(?)" "p.(Arg171Trp)" "" "0000914668" "00010992" "70" "305" "0" "305" "0" "c.305A>C" "r.(?)" "p.(Asn102Thr)" "" "0000914669" "00010992" "90" "296" "0" "296" "0" "c.296G>C" "r.(?)" "p.(Trp99Ser)" "" "0000926322" "00010992" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Gly398Arg)" "" "0000926323" "00010992" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Thr345=)" "" "0000926324" "00010992" "30" "1029" "0" "1029" "0" "c.1029G>C" "r.(?)" "p.(Leu343=)" "" "0000926325" "00010992" "90" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Val333Met)" "" "0000926326" "00010992" "30" "748" "18" "748" "18" "c.748+18A>G" "r.(=)" "p.(=)" "" "0000926327" "00010992" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Tyr157=)" "" "0000926328" "00010992" "90" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Asn155Asp)" "" "0000930638" "00010992" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(=)" "" "0000930639" "00010992" "70" "803" "0" "803" "0" "c.803G>A" "r.(?)" "p.(Arg268His)" "" "0000930640" "00010992" "50" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76His)" "" "0000950699" "00010992" "30" "428" "-23" "428" "-23" "c.428-23C>A" "r.(=)" "p.(=)" "" "0000950700" "00010992" "30" "408" "0" "408" "0" "c.408G>A" "r.(?)" "p.(=)" "" "0000950701" "00010992" "90" "321" "0" "321" "0" "c.321C>A" "r.(?)" "p.(Tyr107*)" "" "0000968450" "00010992" "50" "805" "0" "805" "0" "c.805A>G" "r.(?)" "p.(Ile269Val)" "" "0000968451" "00010992" "30" "748" "14" "748" "14" "c.748+14G>A" "r.(=)" "p.(=)" "" "0000968452" "00010992" "50" "523" "17" "523" "17" "c.523+17A>G" "r.(=)" "p.(=)" "" "0000981997" "00010992" "50" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.(Thr358Ala)" "" "0000981998" "00010992" "90" "827" "0" "827" "0" "c.827T>A" "r.(?)" "p.(Met276Lys)" "" "0000981999" "00010992" "50" "-13848" "0" "-13848" "0" "c.-13848C>T" "r.(?)" "p.(=)" "" "0001002490" "00010992" "50" "5153" "0" "5154" "0" "c.*3830_*3831insTA" "r.(=)" "p.(=)" "" "0001002491" "00010992" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Gly203Ser)" "" "0001002492" "00010992" "50" "166" "0" "166" "0" "c.166C>G" "r.(?)" "p.(Leu56Val)" "" "0001002493" "00010992" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Leu31Phe)" "" "0001002494" "00010992" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(=)" "" "0001002495" "00010992" "50" "-6265" "0" "-6265" "0" "c.-6265C>T" "r.(?)" "p.(=)" "" "0001015411" "00010992" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Pro390Ser)" "" "0001015412" "00010992" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(=)" "" "0001015413" "00010992" "30" "834" "0" "834" "0" "c.834C>T" "r.(?)" "p.(=)" "" "0001015414" "00010992" "50" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Cys)" "" "0001026736" "00010992" "30" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(=)" "" "0001026737" "00010992" "50" "1128" "0" "1128" "0" "c.1128C>A" "r.(?)" "p.(Ser376Arg)" "" "0001026738" "00010992" "50" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Ser376Asn)" "" "0001026739" "00010992" "50" "926" "0" "926" "0" "c.926T>C" "r.(?)" "p.(Leu309Pro)" "" "0001026740" "00010992" "30" "523" "14" "523" "14" "c.523+14C>T" "r.(=)" "p.(=)" "" "0001041264" "00010992" "50" "1128" "0" "1128" "0" "c.1128C>A" "r.(?)" "p.(Ser376Arg)" "" "0001041265" "00010992" "50" "1127" "0" "1127" "0" "c.1127G>A" "r.(?)" "p.(Ser376Asn)" "" "0001041266" "00010992" "50" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Ala117Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000133641" "0000222892" "0000133641" "0000222893" "0000241186" "0000487018" "0000241186" "0000487029" "0000241187" "0000487019" "0000241187" "0000487021" "0000241188" "0000487020" "0000241189" "0000487022" "0000241189" "0000487025" "0000241190" "0000487023" "0000241191" "0000487024" "0000241192" "0000487026" "0000241193" "0000487027" "0000241193" "0000487028" "0000268175" "0000601052" "0000292688" "0000649377" "0000292689" "0000649378" "0000292690" "0000649379" "0000305659" "0000669347"