### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PCSK9) # 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}}" "PCSK9" "proprotein convertase subtilisin/kexin type 9" "1" "p34.1-p32" "unknown" "LRG_275" "UD_130031299948" "" "http://www.LOVD.nl/PCSK9" "British Heart Foundation \r\n" "1" "20001" "255738" "607786" "1" "1" "1" "1" "Aliases gene: NARC-1, FH3\r\nWhen citing this database please quote Leigh et al 2009, Atherosclerosis 203, 32-33.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PCSK9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-07-04 00:00:00" "00006" "2016-11-25 14:11:20" "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}}" "00015847" "PCSK9" "proprotein convertase subtilisin/kexin type 9" "001" "NM_174936.3" "" "NP_777596.2" "" "" "" "-362" "3348" "2079" "55505149" "55530526" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00164" "FHCL3" "hypercholesterolemia, familial, type 3" "AD" "603776" "" "" "" "00006" "2013-07-01 16:08:07" "00006" "2021-12-10 21:51:32" "00174" "FH" "hypercholesterolemia, familial (FH)" "AD" "" "" "" "" "00006" "2013-08-11 14:06:36" "00006" "2020-02-26 12:49:47" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01378" "FHCL2" "hypercholesterolemia, familial, type 2 (FHCL2)" "AD" "144010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-02-26 12:53:30" "02760" "MCI1" "myocardial infarction, susceptibility to, type 1 (MCI-1)" "" "608446" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04360" "FHBL1" "hypobetalipoproteinemia, familial, type 1 (FHBL1)" "AR" "615558" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2020-02-26 12:54:24" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PCSK9" "00164" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00033774" "" "" "" "1" "" "01253" "{PMID:Braenne 2016:26036859}, {DOI:Braenne 2016:10.1038/ejhg.2015.100}" "" "" "" "Germany" "" "0" "" "" "" "" "00033776" "" "" "" "1" "" "01253" "{PMID:Braenne 2016:26036859}, {DOI:Braenne 2016:10.1038/ejhg.2015.100}" "" "" "" "Germany" "" "0" "" "" "" "" "00054759" "" "" "" "1" "" "01465" "" "" "M" "" "" "" "0" "" "" "" "" "00180936" "" "" "" "1" "" "02569" "" "" "M" "no" "Spain" "45y" "0" "" "" "White" "" "00289885" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289886" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00443845" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "incidental finding" "" "" "Netherlands" "" "0" "" "" "" "Case3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00033774" "01378" "00033774" "02760" "00033776" "01378" "00033776" "02760" "00054759" "04360" "00180936" "00174" "00289885" "00198" "00289886" "00198" "00443845" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00164, 00174, 00198, 01378, 02760, 04360 ## Count = 5 "{{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}}" "0000027171" "01378" "00033774" "01253" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027173" "01378" "00033776" "01253" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041435" "04360" "00054759" "01465" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143207" "00174" "00180936" "02569" "Familial, autosomal dominant" "35y" "Coronary heart disease since the age of 33. Untreated total cholesterol 346 mg/dl. Untreated LDL-cholesterol 258.4 mg/dl." "" "" "" "" "" "" "" "" "" "Hypercholesterolemia, familial" "" "0000333122" "00198" "00443845" "00006" "Familial" "" "hypercholesterolemia" "" "" "" "" "" "" "" "" "" "incidental finding" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033841" "00033774" "1" "01253" "01253" "2015-03-05 09:27:02" "" "" "SEQ-NG" "DNA" "" "" "0000033843" "00033776" "1" "01253" "01253" "2015-03-05 09:31:00" "" "" "SEQ-NG" "DNA" "" "" "0000054705" "00054759" "1" "01465" "01465" "2015-11-17 15:44:28" "" "" "SEQ-NG-I" "DNA" "" "" "0000181876" "00180936" "1" "02569" "02569" "2018-09-12 21:43:24" "" "" "SEQ-NG" "DNA" "" "" "0000291053" "00289885" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291054" "00289886" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000445342" "00443845" "1" "00006" "00006" "2023-12-03 12:04:23" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000054705" "PCSK9" "0000181876" "APOB" "0000181876" "APOE" "0000181876" "LDLR" "0000181876" "LDLRAP1" "0000181876" "LIPA" "0000181876" "PCSK9" "0000181876" "STAP1" ## 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 = 403 "{{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}}" "0000060682" "1" "50" "1" "55512245" "55512246" "del" "0" "01253" "PCSK9_000106" "g.55512245_55512246del" "" "{PMID:Braenne 2016:26036859}, {DOI:Braenne 2016:10.1038/ejhg.2015.100}" "" "" "" "Germline" "no" "" "0" "" "" "g.55046572_55046573del" "" "VUS" "" "0000060684" "1" "50" "1" "55518037" "55518037" "subst" "1.62484E-5" "01253" "PCSK9_000105" "g.55518037G>A" "" "{PMID:Braenne 2016:26036859}, {DOI:Braenne 2016:10.1038/ejhg.2015.100}" "" "" "" "Germline" "yes" "" "0" "" "" "g.55052364G>A" "" "VUS" "" "0000084676" "1" "50" "1" "55512319" "55512319" "subst" "8.13974E-6" "01465" "PCSK9_000107" "g.55512319G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.55046646G>A" "" "VUS" "" "0000245424" "0" "10" "1" "55523033" "55523033" "subst" "0.995801" "02330" "PCSK9_000155" "g.55523033A>G" "" "" "" "PCSK9(NM_174936.4):c.1026A>G (p.Q342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057360A>G" "" "benign" "" "0000245425" "0" "10" "1" "55524197" "55524197" "subst" "0.856403" "02330" "PCSK9_000164" "g.55524197A>G" "" "" "" "PCSK9(NM_174936.4):c.1380A>G (p.V460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058524A>G" "" "benign" "" "0000245429" "0" "10" "1" "55518467" "55518467" "subst" "0.418857" "02330" "PCSK9_000146" "g.55518467A>G" "" "" "" "PCSK9(NM_174936.4):c.799+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052794A>G" "" "benign" "" "0000245473" "0" "10" "1" "55527222" "55527222" "subst" "0.000915647" "02330" "PCSK9_000213" "g.55527222A>C" "" "" "" "PCSK9(NM_174936.4):c.1856A>C (p.Q619P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55061549A>C" "" "benign" "" "0000245543" "0" "30" "1" "55509711" "55509711" "subst" "0.000219539" "02330" "PCSK9_000128" "g.55509711A>G" "" "" "" "PCSK9(NM_174936.4):c.399+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55044038A>G" "" "likely benign" "" "0000245549" "0" "30" "1" "55525313" "55525313" "subst" "0.000694686" "02330" "PCSK9_000209" "g.55525313A>G" "" "" "" "PCSK9(NM_174936.4):c.1658A>G (p.H553R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55059640A>G" "" "likely benign" "" "0000248352" "0" "10" "1" "55523033" "55523033" "subst" "0.995801" "02325" "PCSK9_000155" "g.55523033A>G" "" "" "" "PCSK9(NM_174936.4):c.1026A>G (p.Q342=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057360A>G" "" "benign" "" "0000248353" "0" "10" "1" "55524197" "55524197" "subst" "0.856403" "02325" "PCSK9_000164" "g.55524197A>G" "" "" "" "PCSK9(NM_174936.4):c.1380A>G (p.V460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058524A>G" "" "benign" "" "0000248425" "0" "10" "1" "55518467" "55518467" "subst" "0.418857" "02325" "PCSK9_000146" "g.55518467A>G" "" "" "" "PCSK9(NM_174936.4):c.799+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052794A>G" "" "benign" "" "0000293490" "0" "10" "1" "55523018" "55523018" "subst" "2.03341E-5" "02330" "PCSK9_000153" "g.55523018G>A" "" "" "" "PCSK9(NM_174936.4):c.1011G>A (p.G337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057345G>A" "" "benign" "" "0000293491" "0" "30" "1" "55523027" "55523027" "subst" "4.07213E-5" "02330" "PCSK9_000154" "g.55523027T>C" "" "" "" "PCSK9(NM_174936.4):c.1020T>C (p.N340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057354T>C" "" "likely benign" "" "0000293492" "0" "10" "1" "55523126" "55523126" "subst" "3.25124E-5" "02330" "PCSK9_000156" "g.55523126C>T" "" "" "" "PCSK9(NM_174936.4):c.1119C>T (p.S373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057453C>T" "" "benign" "" "0000293493" "0" "90" "1" "55523127" "55523127" "subst" "0" "02330" "PCSK9_000157" "g.55523127G>T" "" "" "" "PCSK9(NM_174936.4):c.1120G>T (p.D374Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057454G>T" "" "pathogenic" "" "0000293494" "0" "50" "1" "55523187" "55523187" "subst" "0.00010972" "02330" "PCSK9_000159" "g.55523187G>A" "" "" "" "PCSK9(NM_174936.3):c.1180G>A (p.G394S), PCSK9(NM_174936.4):c.1180G>A (p.G394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057514G>A" "" "VUS" "" "0000293495" "0" "10" "1" "55523734" "55523734" "subst" "7.72766E-5" "02330" "PCSK9_000160" "g.55523734C>T" "" "" "" "PCSK9(NM_174936.4):c.1206C>T (p.A402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058061C>T" "" "benign" "" "0000293496" "0" "50" "1" "55523796" "55523796" "subst" "7.3144E-5" "02330" "PCSK9_000161" "g.55523796T>C" "" "" "" "PCSK9(NM_174936.4):c.1268T>C (p.V423A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058123T>C" "" "VUS" "" "0000293497" "0" "10" "1" "55523854" "55523854" "subst" "0.00204834" "02330" "PCSK9_000162" "g.55523854C>T" "" "" "" "PCSK9(NM_174936.4):c.1326C>T (p.A442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058181C>T" "" "benign" "" "0000293498" "0" "10" "1" "55523855" "55523855" "subst" "0.00699529" "02330" "PCSK9_000163" "g.55523855G>A" "" "" "" "PCSK9(NM_174936.4):c.1327G>A (p.A443T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058182G>A" "" "benign" "" "0000293499" "0" "30" "1" "55505647" "55505647" "subst" "0.0120205" "02330" "PCSK9_000111" "g.55505647G>T" "" "" "" "PCSK9(NM_174936.4):c.137G>T (p.R46L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039974G>T" "" "likely benign" "" "0000293500" "0" "70" "1" "55524211" "55524211" "subst" "2.43706E-5" "02330" "PCSK9_000165" "g.55524211C>T" "" "" "" "PCSK9(NM_174936.4):c.1394C>T (p.S465L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058538C>T" "" "likely pathogenic" "" "0000293501" "0" "10" "1" "55524212" "55524212" "subst" "0.000702681" "02330" "PCSK9_000166" "g.55524212G>A" "" "" "" "PCSK9(NM_174936.4):c.1395G>A (p.S465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058539G>A" "" "benign" "" "0000293502" "0" "50" "1" "55524222" "55524222" "subst" "0.000568657" "02330" "PCSK9_000167" "g.55524222C>T" "" "" "" "PCSK9(NM_174936.4):c.1405C>T (p.R469W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058549C>T" "" "VUS" "" "0000293503" "0" "10" "1" "55505651" "55505651" "subst" "0.0101947" "02330" "PCSK9_000113" "g.55505651C>T" "" "" "" "PCSK9(NM_174936.4):c.141C>T (p.S47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039978C>T" "" "benign" "" "0000293504" "0" "10" "1" "55524237" "55524237" "subst" "0.856378" "02330" "PCSK9_000168" "g.55524237G>A" "" "" "" "PCSK9(NM_174936.4):c.1420G>A (p.V474I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058564G>A" "" "benign" "" "0000293505" "0" "50" "1" "55505652" "55505652" "subst" "0" "02330" "PCSK9_000114" "g.55505652G>A" "" "" "" "PCSK9(NM_174936.4):c.142G>A (p.E48K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039979G>A" "" "VUS" "" "0000293506" "0" "10" "1" "55524248" "55524248" "subst" "0.0012232" "02330" "PCSK9_000169" "g.55524248C>T" "" "" "" "PCSK9(NM_174936.4):c.1431C>T (p.C477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058575C>T" "" "benign" "" "0000293507" "0" "70" "1" "55505655" "55505655" "subst" "0" "02330" "PCSK9_000115" "g.55505655G>A" "" "" "" "PCSK9(NM_174936.4):c.145G>A (p.E49K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039982G>A" "" "likely pathogenic" "" "0000293508" "0" "70" "1" "55524301" "55524301" "subst" "2.86829E-5" "02330" "PCSK9_000170" "g.55524301G>A" "" "" "" "PCSK9(NM_174936.4):c.1484G>A (p.R495Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058628G>A" "" "likely pathogenic" "" "0000293509" "0" "70" "1" "55524303" "55524303" "subst" "4.52288E-5" "02330" "PCSK9_000171" "g.55524303C>T" "" "" "" "PCSK9(NM_174936.4):c.1486C>T (p.R496W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058630C>T" "" "likely pathogenic" "" "0000293510" "0" "10" "1" "55524390" "55524391" "del" "0" "02330" "PCSK9_000173" "g.55524390_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+70_1503+71delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058717_55058718del" "" "benign" "" "0000293511" "0" "30" "1" "55524388" "55524391" "del" "0" "02330" "PCSK9_000174" "g.55524388_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+68_1503+71delGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058715_55058718del" "" "likely benign" "" "0000293512" "0" "30" "1" "55524386" "55524391" "del" "0" "02330" "PCSK9_000175" "g.55524386_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+66_1503+71delGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058713_55058718del" "" "likely benign" "" "0000293513" "0" "10" "1" "55524380" "55524391" "del" "0" "02330" "PCSK9_000176" "g.55524380_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+60_1503+71delGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058707_55058718del" "" "benign" "" "0000293514" "0" "10" "1" "55524378" "55524391" "del" "0" "02330" "PCSK9_000177" "g.55524378_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+58_1503+71delGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058705_55058718del" "" "benign" "" "0000293515" "0" "30" "1" "55524376" "55524391" "del" "0" "02330" "PCSK9_000178" "g.55524376_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+56_1503+71delGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058703_55058718del" "" "likely benign" "" "0000293516" "0" "10" "1" "55524374" "55524391" "del" "0" "02330" "PCSK9_000179" "g.55524374_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+54_1503+71delGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058701_55058718del" "" "benign" "" "0000293517" "0" "10" "1" "55524370" "55524391" "del" "0" "02330" "PCSK9_000180" "g.55524370_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+50_1503+71delGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058697_55058718del" "" "benign" "" "0000293523" "0" "30" "1" "55524382" "55524391" "del" "0" "02330" "PCSK9_000186" "g.55524382_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+62_1503+71delGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058709_55058718del" "" "likely benign" "" "0000293526" "0" "30" "1" "55524384" "55524391" "del" "0" "02330" "PCSK9_000189" "g.55524384_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+64_1503+71delGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058711_55058718del" "" "likely benign" "" "0000293542" "0" "50" "1" "55525154" "55525154" "subst" "0.000153714" "02330" "PCSK9_000206" "g.55525154C>G" "" "" "" "PCSK9(NM_174936.4):c.1504-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55059481C>G" "" "VUS" "" "0000293543" "0" "30" "1" "55525152" "55525152" "subst" "8.04426E-5" "02330" "PCSK9_000205" "g.55525152C>T" "" "" "" "PCSK9(NM_174936.4):c.1504-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55059479C>T" "" "likely benign" "" "0000293544" "0" "10" "1" "55525194" "55525194" "subst" "0" "02330" "PCSK9_000207" "g.55525194C>T" "" "" "" "PCSK9(NM_174936.4):c.1539C>T (p.N513=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55059521C>T" "" "benign" "" "0000293545" "0" "10" "1" "55525215" "55525215" "subst" "0.000395692" "02330" "PCSK9_000208" "g.55525215C>T" "" "" "" "PCSK9(NM_174936.4):c.1560C>T (p.V520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55059542C>T" "" "benign" "" "0000293546" "0" "30" "1" "55505668" "55505668" "subst" "1.61647E-5" "02330" "PCSK9_000116" "g.55505668C>G" "" "" "" "PCSK9(NM_174936.4):c.158C>G (p.A53G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039995C>G" "" "likely benign" "" "0000293547" "0" "10" "1" "55505668" "55505668" "subst" "0.114063" "02330" "PCSK9_000117" "g.55505668C>T" "" "" "" "PCSK9(NM_174936.3):c.158C>T (p.A53V), PCSK9(NM_174936.4):c.158C>T (p.A53V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039995C>T" "" "benign" "" "0000293548" "0" "30" "1" "55525346" "55525346" "subst" "0.000162002" "02330" "PCSK9_000210" "g.55525346T>C" "" "" "" "PCSK9(NM_174936.4):c.1681+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55059673T>C" "" "likely benign" "" "0000293549" "0" "10" "1" "55525353" "55525353" "subst" "0.00262915" "02330" "PCSK9_000211" "g.55525353G>A" "" "" "" "PCSK9(NM_174936.4):c.1681+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55059680G>A" "" "benign" "" "0000293550" "0" "50" "1" "55505679" "55505679" "subst" "0.000185032" "02330" "PCSK9_000118" "g.55505679G>A" "" "" "" "PCSK9(NM_174936.4):c.169G>A (p.E57K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55040006G>A" "" "VUS" "" "0000293551" "0" "10" "1" "55527240" "55527240" "subst" "0.00128196" "02330" "PCSK9_000214" "g.55527240C>G" "" "" "" "PCSK9(NM_174936.4):c.1863+11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55061567C>G" "" "benign" "" "0000293552" "0" "10" "1" "55529047" "55529047" "subst" "0.00130612" "02330" "PCSK9_000215" "g.55529047C>T" "" "" "" "PCSK9(NM_174936.4):c.1869C>T (p.T623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55063374C>T" "" "benign" "" "0000293553" "0" "70" "1" "55529154" "55529154" "subst" "8.13352E-6" "02330" "PCSK9_000216" "g.55529154G>T" "" "" "" "PCSK9(NM_174936.4):c.1976G>T (p.R659L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55063481G>T" "" "likely pathogenic" "" "0000293554" "0" "10" "1" "55529182" "55529182" "subst" "4.07734E-6" "02330" "PCSK9_000217" "g.55529182C>T" "" "" "" "PCSK9(NM_174936.4):c.2004C>T (p.S668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55063509C>T" "" "benign" "" "0000293555" "0" "10" "1" "55529187" "55529187" "subst" "0.948113" "02330" "PCSK9_000218" "g.55529187G>A" "" "" "" "PCSK9(NM_174936.4):c.2009G>A (p.G670E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55063514G>A" "" "benign" "" "0000293556" "0" "10" "1" "55529200" "55529200" "subst" "2.45304E-5" "02330" "PCSK9_000219" "g.55529200C>T" "" "" "" "PCSK9(NM_174936.4):c.2022C>T (p.A674=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55063527C>T" "" "benign" "" "0000293557" "0" "10" "1" "55529206" "55529206" "subst" "6.96276E-5" "02330" "PCSK9_000220" "g.55529206C>T" "" "" "" "PCSK9(NM_174936.4):c.2028C>T (p.A676=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55063533C>T" "" "benign" "" "0000293558" "0" "70" "1" "55509520" "55509520" "subst" "0.000106039" "02330" "PCSK9_000120" "g.55509520C>T" "" "" "" "PCSK9(NM_174936.4):c.212C>T (p.P71L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55043847C>T" "" "likely pathogenic" "" "0000293559" "0" "10" "1" "55509584" "55509584" "subst" "0.000142214" "02330" "PCSK9_000121" "g.55509584G>A" "" "" "" "PCSK9(NM_174936.4):c.276G>A (p.E92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55043911G>A" "" "benign" "" "0000293560" "0" "50" "1" "55509585" "55509585" "subst" "0.000723377" "02330" "PCSK9_000122" "g.55509585C>T" "" "" "" "PCSK9(NM_174936.4):c.277C>T (p.R93C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55043912C>T" "" "VUS" "" "0000293561" "0" "10" "1" "55505926" "55505926" "subst" "0" "02330" "PCSK9_000119" "g.55505926C>T" "" "" "" "PCSK9(NR_110451.2):n.32C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55040253C>T" "" "benign" "" "0000293562" "0" "10" "1" "55509644" "55509644" "subst" "0.00137267" "02330" "PCSK9_000124" "g.55509644G>A" "" "" "" "PCSK9(NM_174936.4):c.336G>A (p.L112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55043971G>A" "" "benign" "" "0000293563" "0" "10" "1" "55509668" "55509668" "subst" "0" "02330" "PCSK9_000125" "g.55509668T>C" "" "" "" "PCSK9(NM_174936.4):c.360T>C (p.P120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55043995T>C" "" "benign" "" "0000293564" "0" "10" "1" "55509692" "55509692" "subst" "0.000125921" "02330" "PCSK9_000126" "g.55509692C>T" "" "" "" "PCSK9(NM_174936.4):c.384C>T (p.G128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55044019C>T" "" "benign" "" "0000293565" "0" "30" "1" "55509705" "55509705" "subst" "4.06405E-6" "02330" "PCSK9_000127" "g.55509705C>T" "" "" "" "PCSK9(NM_174936.4):c.397C>T (p.L133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55044032C>T" "" "likely benign" "" "0000293566" "0" "10" "1" "55512225" "55512225" "subst" "4.46661E-5" "02330" "PCSK9_000129" "g.55512225C>T" "" "" "" "PCSK9(NM_174936.4):c.429C>T (p.I143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55046552C>T" "" "benign" "" "0000293567" "0" "30" "1" "55512275" "55512275" "subst" "6.09157E-5" "02330" "PCSK9_000130" "g.55512275G>A" "" "" "" "PCSK9(NM_174936.4):c.479G>A (p.R160Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55046602G>A" "" "likely benign" "" "0000293568" "0" "30" "1" "55512290" "55512290" "subst" "2.8434E-5" "02330" "PCSK9_000131" "g.55512290G>A" "" "" "" "PCSK9(NM_174936.4):c.494G>A (p.R165Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55046617G>A" "" "likely benign" "" "0000293569" "0" "10" "1" "55512318" "55512318" "subst" "3.6622E-5" "02330" "PCSK9_000132" "g.55512318C>T" "" "" "" "PCSK9(NM_174936.4):c.522C>T (p.P174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55046645C>T" "" "benign" "" "0000293570" "0" "10" "1" "55517940" "55517940" "subst" "0.0517652" "02330" "PCSK9_000133" "g.55517940G>A" "" "" "" "PCSK9(NM_174936.4):c.524-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052267G>A" "" "benign" "" "0000293572" "0" "30" "1" "55518036" "55518036" "subst" "0.000142169" "02330" "PCSK9_000135" "g.55518036C>T" "" "" "" "PCSK9(NM_174936.4):c.609C>T (p.T203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052363C>T" "" "likely benign" "" "0000293573" "0" "10" "1" "55518042" "55518042" "subst" "1.21866E-5" "02330" "PCSK9_000136" "g.55518042C>T" "" "" "" "PCSK9(NM_174936.4):c.615C>T (p.F205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052369C>T" "" "benign" "" "0000293574" "0" "10" "1" "55518054" "55518054" "subst" "4.06329E-5" "02330" "PCSK9_000137" "g.55518054C>T" "" "" "" "PCSK9(NM_174936.4):c.627C>T (p.P209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052381C>T" "" "benign" "" "0000293576" "0" "10" "1" "55518093" "55518093" "subst" "0.041763" "02330" "PCSK9_000138" "g.55518093G>A" "" "" "" "PCSK9(NM_174936.4):c.657+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052420G>A" "" "benign" "" "0000293577" "0" "10" "1" "55518316" "55518316" "subst" "0.419452" "02330" "PCSK9_000140" "g.55518316C>T" "" "" "" "PCSK9(NM_174936.4):c.658-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052643C>T" "" "benign" "" "0000293578" "0" "50" "1" "55518323" "55518323" "subst" "1.6356E-5" "02330" "PCSK9_000141" "g.55518323G>A" "" "" "" "PCSK9(NM_174936.4):c.658G>A (p.A220T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052650G>A" "" "VUS" "" "0000293579" "0" "10" "1" "55518370" "55518370" "subst" "0.00559418" "02330" "PCSK9_000142" "g.55518370C>T" "" "" "" "PCSK9(NM_174936.4):c.705C>T (p.S235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052697C>T" "" "benign" "" "0000293580" "0" "50" "1" "55518374" "55518374" "subst" "0.000703413" "02330" "PCSK9_000143" "g.55518374C>T" "" "" "" "PCSK9(NM_174936.4):c.709C>T (p.R237W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052701C>T" "" "VUS" "" "0000293581" "0" "10" "1" "55518385" "55518385" "subst" "0.00502932" "02330" "PCSK9_000144" "g.55518385C>T" "" "" "" "PCSK9(NM_174936.3):c.720C>T (p.G240=), PCSK9(NM_174936.4):c.720C>T (p.G240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052712C>T" "" "benign" "" "0000293582" "0" "10" "1" "55518418" "55518418" "subst" "0.00389588" "02330" "PCSK9_000145" "g.55518418C>T" "" "" "" "PCSK9(NM_174936.4):c.753C>T (p.R251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052745C>T" "" "benign" "" "0000293583" "0" "30" "1" "55521662" "55521662" "subst" "0" "02330" "PCSK9_000147" "g.55521662C>T" "" "" "" "PCSK9(NM_174936.4):c.800-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55055989C>T" "" "likely benign" "" "0000293584" "0" "50" "1" "55521713" "55521713" "subst" "8.39652E-5" "02330" "PCSK9_000148" "g.55521713C>A" "" "" "" "PCSK9(NM_174936.4):c.847C>A (p.L283M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55056040C>A" "" "VUS" "" "0000293585" "0" "70" "1" "55521749" "55521749" "subst" "4.35992E-6" "02330" "PCSK9_000149" "g.55521749C>A" "" "" "" "PCSK9(NM_174936.4):c.883C>A (p.R295S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55056076C>A" "" "likely pathogenic" "" "0000293586" "0" "10" "1" "55521850" "55521850" "subst" "0" "02330" "PCSK9_000150" "g.55521850C>T" "" "" "" "PCSK9(NM_174936.4):c.984C>T (p.A328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55056177C>T" "" "benign" "" "0000293587" "0" "30" "1" "55521859" "55521859" "subst" "0.00061132" "02330" "PCSK9_000151" "g.55521859C>T" "" "" "" "PCSK9(NM_174936.4):c.993C>T (p.P331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55056186C>T" "" "likely benign" "" "0000293588" "0" "10" "1" "55521917" "55521923" "del" "0" "02330" "PCSK9_000152" "g.55521917_55521923del" "" "" "" "PCSK9(NM_174936.4):c.996+55_996+61delCGGAGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55056244_55056250del" "" "benign" "" "0000296827" "0" "50" "1" "55523127" "55523127" "subst" "6.09593E-5" "02325" "PCSK9_000158" "g.55523127G>A" "" "" "" "PCSK9(NM_174936.4):c.1120G>A (p.D374N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55057454G>A" "" "VUS" "" "0000296828" "0" "30" "1" "55505650" "55505650" "subst" "0" "02325" "PCSK9_000112" "g.55505650C>G" "" "" "" "PCSK9(NM_174936.4):c.140C>G (p.S47C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039977C>G" "" "likely benign" "" "0000296829" "0" "10" "1" "55505651" "55505651" "subst" "0.0101947" "02325" "PCSK9_000113" "g.55505651C>T" "" "" "" "PCSK9(NM_174936.4):c.141C>T (p.S47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039978C>T" "" "benign" "" "0000296830" "0" "10" "1" "55524237" "55524237" "subst" "0.856378" "02325" "PCSK9_000168" "g.55524237G>A" "" "" "" "PCSK9(NM_174936.4):c.1420G>A (p.V474I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55058564G>A" "" "benign" "" "0000296832" "0" "10" "1" "55505668" "55505668" "subst" "0.114063" "02325" "PCSK9_000117" "g.55505668C>T" "" "" "" "PCSK9(NM_174936.3):c.158C>T (p.A53V), PCSK9(NM_174936.4):c.158C>T (p.A53V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039995C>T" "" "benign" "" "0000296833" "0" "10" "1" "55529187" "55529187" "subst" "0.948113" "02325" "PCSK9_000218" "g.55529187G>A" "" "" "" "PCSK9(NM_174936.4):c.2009G>A (p.G670E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55063514G>A" "" "benign" "" "0000296834" "0" "30" "1" "55509584" "55509584" "subst" "0.000142214" "02325" "PCSK9_000121" "g.55509584G>A" "" "" "" "PCSK9(NM_174936.4):c.276G>A (p.E92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55043911G>A" "" "likely benign" "" "0000296835" "0" "50" "1" "55509594" "55509594" "subst" "2.03156E-5" "02325" "PCSK9_000123" "g.55509594C>T" "" "" "" "PCSK9(NM_174936.4):c.286C>T (p.R96C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55043921C>T" "" "VUS" "" "0000296836" "0" "10" "1" "55517940" "55517940" "subst" "0.0517652" "02325" "PCSK9_000133" "g.55517940G>A" "" "" "" "PCSK9(NM_174936.4):c.524-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052267G>A" "" "benign" "" "0000296837" "0" "30" "1" "55517952" "55517952" "subst" "0.000353383" "02325" "PCSK9_000134" "g.55517952C>T" "" "" "" "PCSK9(NM_174936.4):c.525C>T (p.D175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052279C>T" "" "likely benign" "" "0000296839" "0" "10" "1" "55518093" "55518093" "subst" "0.041763" "02325" "PCSK9_000138" "g.55518093G>A" "" "" "" "PCSK9(NM_174936.4):c.657+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052420G>A" "" "benign" "" "0000296840" "0" "10" "1" "55518287" "55518287" "subst" "0.0415696" "02325" "PCSK9_000139" "g.55518287G>A" "" "" "" "PCSK9(NM_174936.4):c.658-36G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052614G>A" "" "benign" "" "0000296841" "0" "10" "1" "55518316" "55518316" "subst" "0.419452" "02325" "PCSK9_000140" "g.55518316C>T" "" "" "" "PCSK9(NM_174936.4):c.658-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052643C>T" "" "benign" "" "0000296842" "0" "30" "1" "55518385" "55518385" "subst" "0.00502932" "02325" "PCSK9_000144" "g.55518385C>T" "" "" "" "PCSK9(NM_174936.3):c.720C>T (p.G240=), PCSK9(NM_174936.4):c.720C>T (p.G240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052712C>T" "" "likely benign" "" "0000296843" "0" "30" "1" "55518418" "55518418" "subst" "0.00389588" "02325" "PCSK9_000145" "g.55518418C>T" "" "" "" "PCSK9(NM_174936.4):c.753C>T (p.R251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55052745C>T" "" "likely benign" "" "0000300679" "0" "10" "1" "55505668" "55505668" "subst" "0.114063" "02326" "PCSK9_000117" "g.55505668C>T" "" "" "" "PCSK9(NM_174936.3):c.158C>T (p.A53V), PCSK9(NM_174936.4):c.158C>T (p.A53V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55039995C>T" "" "benign" "" "0000305309" "0" "30" "1" "55527157" "55527157" "subst" "2.6322E-5" "01943" "PCSK9_000212" "g.55527157C>T" "" "" "" "PCSK9(NM_174936.3):c.1791C>T (p.H597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55061484C>T" "" "likely benign" "" "0000405877" "0" "70" "1" "55524313" "55524313" "subst" "2.09086E-5" "02569" "PCSK9_000221" "g.55524313G>A" "" "" "" "" "" "Germline" "yes" "rs143394031" "0" "" "" "g.55058640G>A" "" "likely pathogenic" "" "0000507860" "0" "10" "1" "55504650" "55504650" "subst" "0" "02330" "PCSK9_000222" "g.55504650G>A" "" "" "" "PCSK9(NM_174936.4):c.-861G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55038977G>A" "" "benign" "" "0000507861" "0" "30" "1" "55505224" "55505224" "subst" "0" "02330" "PCSK9_000223" "g.55505224G>A" "" "" "" "PCSK9(NM_174936.4):c.-287G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039551G>A" "" "likely benign" "" "0000507862" "0" "10" "1" "55505447" "55505447" "subst" "0" "02330" "PCSK9_000224" "g.55505447C>T" "" "" "" "PCSK9(NM_174936.4):c.-64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039774C>T" "" "benign" "" "0000507863" "0" "50" "1" "55505500" "55505500" "subst" "0" "02330" "PCSK9_000225" "g.55505500C>T" "" "" "" "PCSK9(NM_174936.4):c.-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039827C>T" "" "VUS" "" "0000507864" "0" "50" "1" "55505520" "55505520" "subst" "0.00014579" "02330" "PCSK9_000226" "g.55505520G>A" "" "" "" "PCSK9(NM_174936.4):c.10G>A (p.V4I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039847G>A" "" "VUS" "" "0000507865" "0" "30" "1" "55505551" "55505559" "del" "0" "02330" "PCSK9_000227" "g.55505551_55505559del" "" "" "" "PCSK9(NM_174936.4):c.41_49delCACTGCTGC (p.P14_L16del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039878_55039886del" "" "likely benign" "" "0000507866" "0" "30" "1" "55505567" "55505575" "del" "0" "02330" "PCSK9_000228" "g.55505567_55505575del" "" "" "" "PCSK9(NM_174936.4):c.57_65delGCTGCTGCT (p.L21_L23del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039894_55039902del" "" "likely benign" "" "0000507867" "0" "10" "1" "55505570" "55505575" "dup" "0" "02330" "PCSK9_000229" "g.55505570_55505575dup" "" "" "" "PCSK9(NM_174936.4):c.60_65dupGCTGCT (p.L22_L23dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039897_55039902dup" "" "benign" "" "0000507868" "0" "10" "1" "55505573" "55505575" "del" "0" "02330" "PCSK9_000230" "g.55505573_55505575del" "" "" "" "PCSK9(NM_174936.4):c.63_65delGCT (p.L23del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039900_55039902del" "" "benign" "" "0000507869" "0" "10" "1" "55505573" "55505575" "dup" "0" "02325" "PCSK9_000231" "g.55505573_55505575dup" "" "" "" "PCSK9(NM_174936.3):c.63_65dupGCT (p.L23dup), PCSK9(NM_174936.4):c.63_65dupGCT (p.L23dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039900_55039902dup" "" "benign" "" "0000507870" "0" "10" "1" "55505573" "55505575" "dup" "0" "02330" "PCSK9_000231" "g.55505573_55505575dup" "" "" "" "PCSK9(NM_174936.3):c.63_65dupGCT (p.L23dup), PCSK9(NM_174936.4):c.63_65dupGCT (p.L23dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039900_55039902dup" "" "benign" "" "0000507871" "0" "10" "1" "55505573" "55505575" "dup" "0" "02326" "PCSK9_000231" "g.55505573_55505575dup" "" "" "" "PCSK9(NM_174936.3):c.63_65dupGCT (p.L23dup), PCSK9(NM_174936.4):c.63_65dupGCT (p.L23dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039900_55039902dup" "" "benign" "" "0000507872" "0" "10" "1" "55505576" "55505576" "subst" "0" "02330" "PCSK9_000232" "g.55505576C>T" "" "" "" "PCSK9(NM_174936.4):c.66C>T (p.L22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039903C>T" "" "benign" "" "0000507873" "0" "90" "1" "55505604" "55505604" "subst" "2.85838E-5" "02330" "PCSK9_000233" "g.55505604G>A" "" "" "" "PCSK9(NM_174936.4):c.94G>A (p.E32K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039931G>A" "" "pathogenic" "" "0000507874" "0" "50" "1" "55505611" "55505616" "dup" "0" "02330" "PCSK9_000234" "g.55505611_55505616dup" "" "" "" "PCSK9(NM_174936.4):c.101_106dupAGGACG (p.E34_D35dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039938_55039943dup" "" "VUS" "" "0000507875" "0" "50" "1" "55505670" "55505670" "subst" "0" "02330" "PCSK9_000235" "g.55505670G>A" "" "" "" "PCSK9(NM_174936.4):c.160G>A (p.E54K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039997G>A" "" "VUS" "" "0000507876" "0" "50" "1" "55505722" "55505722" "subst" "0" "02330" "PCSK9_000236" "g.55505722G>A" "" "" "" "PCSK9(NM_174936.4):c.207+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55040049G>A" "" "VUS" "" "0000507877" "0" "10" "1" "55505732" "55505732" "subst" "0.92808" "02330" "PCSK9_000237" "g.55505732A>G" "" "" "" "PCSK9(NM_174936.4):c.207+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55040059A>G" "" "benign" "" "0000507878" "0" "10" "1" "55505732" "55505732" "subst" "0.92808" "02325" "PCSK9_000237" "g.55505732A>G" "" "" "" "PCSK9(NM_174936.4):c.207+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55040059A>G" "" "benign" "" "0000507879" "0" "10" "1" "55505861" "55505861" "subst" "0" "02330" "PCSK9_000238" "g.55505861G>A" "" "" "" "PCSK9(NM_174936.4):c.207+144G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55040188G>A" "" "benign" "" "0000507880" "0" "10" "1" "55509117" "55509117" "subst" "0" "02330" "PCSK9_000239" "g.55509117C>T" "" "" "" "PCSK9(NM_174936.4):c.208-399C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043444C>T" "" "benign" "" "0000507881" "0" "30" "1" "55509213" "55509213" "subst" "0" "02330" "PCSK9_000240" "g.55509213G>C" "" "" "" "PCSK9(NM_174936.4):c.208-303G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043540G>C" "" "likely benign" "" "0000507882" "0" "10" "1" "55509355" "55509355" "subst" "0" "02330" "PCSK9_000241" "g.55509355C>T" "" "" "" "PCSK9(NM_174936.4):c.208-161C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043682C>T" "" "benign" "" "0000507883" "0" "10" "1" "55509533" "55509533" "subst" "0.000419408" "02330" "PCSK9_000242" "g.55509533T>C" "" "" "" "PCSK9(NM_174936.4):c.225T>C (p.P75=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043860T>C" "" "benign" "" "0000507884" "0" "30" "1" "55509542" "55509542" "subst" "3.663E-5" "02330" "PCSK9_000243" "g.55509542C>T" "" "" "" "PCSK9(NM_174936.4):c.234C>T (p.Y78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043869C>T" "" "likely benign" "" "0000507885" "0" "50" "1" "55509594" "55509594" "subst" "2.03156E-5" "02330" "PCSK9_000123" "g.55509594C>T" "" "" "" "PCSK9(NM_174936.4):c.286C>T (p.R96C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043921C>T" "" "VUS" "" "0000507886" "0" "10" "1" "55509596" "55509596" "subst" "4.06279E-6" "02330" "PCSK9_000244" "g.55509596C>A" "" "" "" "PCSK9(NM_174936.4):c.288C>A (p.R96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043923C>A" "" "benign" "" "0000507887" "0" "50" "1" "55509619" "55509619" "subst" "2.4373E-5" "02330" "PCSK9_000245" "g.55509619G>A" "" "" "" "PCSK9(NM_174936.4):c.311G>A (p.R104H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043946G>A" "" "VUS" "" "0000507888" "0" "50" "1" "55509622" "55509622" "subst" "3.24952E-5" "02330" "PCSK9_000246" "g.55509622G>A" "" "" "" "PCSK9(NM_174936.4):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043949G>A" "" "VUS" "" "0000507889" "0" "90" "1" "55509649" "55509649" "subst" "1.62438E-5" "02330" "PCSK9_000247" "g.55509649T>C" "" "" "" "PCSK9(NM_174936.4):c.341T>C (p.V114A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55043976T>C" "" "pathogenic" "" "0000507890" "0" "90" "1" "55509693" "55509693" "subst" "1.62473E-5" "02330" "PCSK9_000248" "g.55509693G>A" "" "" "" "PCSK9(NM_174936.4):c.385G>A (p.D129N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55044020G>A" "" "pathogenic" "" "0000507891" "0" "10" "1" "55509872" "55509872" "subst" "0" "02330" "PCSK9_000249" "g.55509872T>C" "" "" "" "PCSK9(NM_174936.4):c.399+165T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55044199T>C" "" "benign" "" "0000507892" "0" "10" "1" "55509900" "55509900" "subst" "0" "02330" "PCSK9_000250" "g.55509900C>T" "" "" "" "PCSK9(NM_174936.4):c.399+193C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55044227C>T" "" "benign" "" "0000507893" "0" "10" "1" "55509939" "55509939" "subst" "0" "02330" "PCSK9_000251" "g.55509939T>C" "" "" "" "PCSK9(NM_174936.4):c.399+232T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55044266T>C" "" "benign" "" "0000507894" "0" "10" "1" "55511995" "55511995" "subst" "0" "02330" "PCSK9_000252" "g.55511995A>G" "" "" "" "PCSK9(NM_174936.4):c.400-201A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046322A>G" "" "benign" "" "0000507895" "0" "10" "1" "55512018" "55512018" "subst" "0" "02330" "PCSK9_000253" "g.55512018A>T" "" "" "" "PCSK9(NM_174936.4):c.400-178A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046345A>T" "" "benign" "" "0000507896" "0" "30" "1" "55512216" "55512216" "subst" "4.06075E-6" "02330" "PCSK9_000254" "g.55512216C>T" "" "" "" "PCSK9(NM_174936.4):c.420C>T (p.V140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046543C>T" "" "likely benign" "" "0000507897" "0" "50" "1" "55512296" "55512296" "subst" "3.65643E-5" "02330" "PCSK9_000255" "g.55512296G>A" "" "" "" "PCSK9(NM_174936.4):c.500G>A (p.R167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046623G>A" "" "VUS" "" "0000507898" "0" "30" "1" "55512303" "55512303" "subst" "4.06345E-6" "02330" "PCSK9_000256" "g.55512303T>C" "" "" "" "PCSK9(NM_174936.4):c.507T>C (p.D169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046630T>C" "" "likely benign" "" "0000507899" "0" "10" "1" "55512549" "55512549" "subst" "0" "02330" "PCSK9_000257" "g.55512549T>C" "" "" "" "PCSK9(NM_174936.4):c.523+230T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046876T>C" "" "benign" "" "0000507900" "0" "10" "1" "55517861" "55517861" "subst" "0" "02330" "PCSK9_000258" "g.55517861C>G" "" "" "" "PCSK9(NM_174936.4):c.524-90C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052188C>G" "" "benign" "" "0000507901" "0" "30" "1" "55517883" "55517883" "subst" "0" "02330" "PCSK9_000259" "g.55517883C>G" "" "" "" "PCSK9(NM_174936.4):c.524-68C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052210C>G" "" "likely benign" "" "0000507902" "0" "30" "1" "55517952" "55517952" "subst" "0.000353383" "02330" "PCSK9_000134" "g.55517952C>T" "" "" "" "PCSK9(NM_174936.4):c.525C>T (p.D175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052279C>T" "" "likely benign" "" "0000507903" "0" "50" "1" "55517957" "55517957" "subst" "4.06237E-6" "02330" "PCSK9_000260" "g.55517957G>A" "" "" "" "PCSK9(NM_174936.4):c.530G>A (p.G177D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052284G>A" "" "VUS" "" "0000507904" "0" "70" "1" "55518070" "55518070" "subst" "0" "02330" "PCSK9_000261" "g.55518070C>A" "" "" "" "PCSK9(NM_174936.4):c.643C>A (p.R215S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052397C>A" "" "likely pathogenic" "" "0000507905" "0" "70" "1" "55518071" "55518071" "subst" "0" "02330" "PCSK9_000262" "g.55518071G>A" "" "" "" "PCSK9(NM_174936.4):c.644G>A (p.R215H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052398G>A" "" "likely pathogenic" "" "0000507906" "0" "30" "1" "55518160" "55518160" "subst" "0" "02330" "PCSK9_000263" "g.55518160C>A" "" "" "" "PCSK9(NM_174936.4):c.657+76C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052487C>A" "" "likely benign" "" "0000507907" "0" "30" "1" "55518166" "55518166" "subst" "0" "02330" "PCSK9_000264" "g.55518166G>A" "" "" "" "PCSK9(NM_174936.4):c.657+82G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052493G>A" "" "likely benign" "" "0000507908" "0" "30" "1" "55518198" "55518198" "subst" "0" "02330" "PCSK9_000265" "g.55518198C>A" "" "" "" "PCSK9(NM_174936.4):c.657+114C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052525C>A" "" "likely benign" "" "0000507909" "0" "30" "1" "55518198" "55518198" "del" "0" "02330" "PCSK9_000266" "g.55518198del" "" "" "" "PCSK9(NM_174936.4):c.657+114delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052525del" "" "likely benign" "" "0000507910" "0" "10" "1" "55518198" "55518198" "dup" "0" "02330" "PCSK9_000267" "g.55518198dup" "" "" "" "PCSK9(NM_174936.4):c.657+114dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052525dup" "" "benign" "" "0000507911" "0" "30" "1" "55518287" "55518287" "subst" "0.0415696" "02330" "PCSK9_000139" "g.55518287G>A" "" "" "" "PCSK9(NM_174936.4):c.658-36G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052614G>A" "" "likely benign" "" "0000507912" "0" "90" "1" "55518317" "55518317" "subst" "4.09075E-6" "02330" "PCSK9_000268" "g.55518317G>T" "" "" "" "PCSK9(NM_174936.4):c.658-6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052644G>T" "" "pathogenic" "" "0000507913" "0" "50" "1" "55518335" "55518335" "subst" "0" "02330" "PCSK9_000269" "g.55518335G>C" "" "" "" "PCSK9(NM_174936.4):c.670G>C (p.D224H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052662G>C" "" "VUS" "" "0000507914" "0" "30" "1" "55518382" "55518382" "subst" "5.31602E-5" "02330" "PCSK9_000270" "g.55518382C>T" "" "" "" "PCSK9(NM_174936.4):c.717C>T (p.A239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052709C>T" "" "likely benign" "" "0000507915" "0" "30" "1" "55518445" "55518445" "subst" "0" "02330" "PCSK9_000271" "g.55518445G>A" "" "" "" "PCSK9(NM_174936.4):c.780G>A (p.T260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052772G>A" "" "likely benign" "" "0000507916" "0" "30" "1" "55518528" "55518528" "subst" "0" "02330" "PCSK9_000272" "g.55518528C>A" "" "" "" "PCSK9(NM_174936.4):c.799+64C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052855C>A" "" "likely benign" "" "0000507917" "0" "30" "1" "55518622" "55518622" "subst" "0" "02330" "PCSK9_000273" "g.55518622T>C" "" "" "" "PCSK9(NM_174936.4):c.799+158T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052949T>C" "" "likely benign" "" "0000507918" "0" "10" "1" "55518682" "55518682" "subst" "0" "02330" "PCSK9_000274" "g.55518682C>T" "" "" "" "PCSK9(NM_174936.4):c.799+218C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55053009C>T" "" "benign" "" "0000507919" "0" "10" "1" "55518752" "55518752" "subst" "0" "02330" "PCSK9_000275" "g.55518752C>T" "" "" "" "PCSK9(NM_174936.4):c.799+288C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55053079C>T" "" "benign" "" "0000507920" "0" "10" "1" "55518828" "55518828" "subst" "0" "02330" "PCSK9_000276" "g.55518828A>G" "" "" "" "PCSK9(NM_174936.4):c.799+364A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55053155A>G" "" "benign" "" "0000507921" "0" "10" "1" "55519015" "55519015" "subst" "0" "02330" "PCSK9_000277" "g.55519015G>T" "" "" "" "PCSK9(NM_174936.4):c.799+551G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55053342G>T" "" "benign" "" "0000507922" "0" "30" "1" "55521103" "55521103" "subst" "0" "02330" "PCSK9_000278" "g.55521103G>T" "" "" "" "PCSK9(NM_174936.4):c.800-563G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55055430G>T" "" "likely benign" "" "0000507923" "0" "10" "1" "55521109" "55521109" "subst" "0" "02330" "PCSK9_000279" "g.55521109G>A" "" "" "" "PCSK9(NM_174936.4):c.800-557G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55055436G>A" "" "benign" "" "0000507924" "0" "10" "1" "55521195" "55521195" "subst" "0" "02330" "PCSK9_000280" "g.55521195C>T" "" "" "" "PCSK9(NM_174936.4):c.800-471C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55055522C>T" "" "benign" "" "0000507925" "0" "10" "1" "55521242" "55521242" "subst" "0" "02330" "PCSK9_000281" "g.55521242T>G" "" "" "" "PCSK9(NM_174936.4):c.800-424T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55055569T>G" "" "benign" "" "0000507926" "0" "10" "1" "55521313" "55521313" "subst" "0" "02330" "PCSK9_000282" "g.55521313G>T" "" "" "" "PCSK9(NM_174936.4):c.800-353G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55055640G>T" "" "benign" "" "0000507927" "0" "10" "1" "55521352" "55521352" "subst" "0" "02330" "PCSK9_000283" "g.55521352C>T" "" "" "" "PCSK9(NM_174936.4):c.800-314C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55055679C>T" "" "benign" "" "0000507928" "0" "10" "1" "55521673" "55521673" "subst" "0" "02330" "PCSK9_000284" "g.55521673G>A" "" "" "" "PCSK9(NM_174936.4):c.807G>A (p.E269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056000G>A" "" "benign" "" "0000507929" "0" "50" "1" "55521695" "55521695" "subst" "8.39687E-6" "02330" "PCSK9_000285" "g.55521695G>C" "" "" "" "PCSK9(NM_174936.4):c.829G>C (p.V277L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056022G>C" "" "VUS" "" "0000507930" "0" "30" "1" "55521701" "55521701" "subst" "0.000305498" "02330" "PCSK9_000286" "g.55521701C>A" "" "" "" "PCSK9(NM_174936.4):c.835C>A (p.P279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056028C>A" "" "likely benign" "" "0000507931" "0" "30" "1" "55521705" "55521705" "subst" "8.37311E-6" "02330" "PCSK9_000287" "g.55521705T>C" "" "" "" "PCSK9(NM_174936.4):c.839T>C (p.V280A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056032T>C" "" "likely benign" "" "0000507932" "0" "50" "1" "55521713" "55521713" "subst" "8.39652E-5" "02325" "PCSK9_000148" "g.55521713C>A" "" "" "" "PCSK9(NM_174936.4):c.847C>A (p.L283M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056040C>A" "" "VUS" "" "0000507933" "0" "10" "1" "55521906" "55521906" "del" "0.12833" "02330" "PCSK9_000288" "g.55521906del" "" "" "" "PCSK9(NM_174936.4):c.996+44delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056233del" "" "benign" "" "0000507934" "0" "10" "1" "55521910" "55521915" "del" "0" "02330" "PCSK9_000289" "g.55521910_55521915del" "" "" "" "PCSK9(NM_174936.4):c.996+48_996+53delCGGAGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056237_55056242del" "" "benign" "" "0000507935" "0" "30" "1" "55522083" "55522083" "subst" "0" "02330" "PCSK9_000290" "g.55522083A>C" "" "" "" "PCSK9(NM_174936.4):c.996+221A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056410A>C" "" "likely benign" "" "0000507936" "0" "10" "1" "55522141" "55522141" "subst" "0" "02330" "PCSK9_000291" "g.55522141A>G" "" "" "" "PCSK9(NM_174936.4):c.996+279A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056468A>G" "" "benign" "" "0000507937" "0" "10" "1" "55522558" "55522558" "subst" "0" "02330" "PCSK9_000292" "g.55522558G>T" "" "" "" "PCSK9(NM_174936.4):c.997-446G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056885G>T" "" "benign" "" "0000507938" "0" "10" "1" "55522613" "55522613" "del" "0" "02330" "PCSK9_000293" "g.55522613del" "" "" "" "PCSK9(NM_174936.4):c.997-391delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056940del" "" "benign" "" "0000507939" "0" "10" "1" "55522742" "55522743" "ins" "0" "02330" "PCSK9_000294" "g.55522742_55522743insGGTC" "" "" "" "PCSK9(NM_174936.4):c.997-262_997-261insGGTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057069_55057070insGGTC" "" "benign" "" "0000507940" "0" "30" "1" "55522743" "55522744" "ins" "0" "02330" "PCSK9_000295" "g.55522743_55522744insGTCT" "" "" "" "PCSK9(NM_174936.4):c.997-261_997-260insGTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057070_55057071insGTCT" "" "likely benign" "" "0000507941" "0" "50" "1" "55523106" "55523106" "subst" "0.000231521" "02330" "PCSK9_000296" "g.55523106G>C" "" "" "" "PCSK9(NM_174936.4):c.1099G>C (p.D367H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057433G>C" "" "VUS" "" "0000507942" "0" "50" "1" "55523187" "55523187" "subst" "0.00010972" "01943" "PCSK9_000159" "g.55523187G>A" "" "" "" "PCSK9(NM_174936.3):c.1180G>A (p.G394S), PCSK9(NM_174936.4):c.1180G>A (p.G394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057514G>A" "" "VUS" "" "0000507943" "0" "10" "1" "55523361" "55523361" "subst" "0" "02330" "PCSK9_000297" "g.55523361A>G" "" "" "" "PCSK9(NM_174936.4):c.1180+174A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057688A>G" "" "benign" "" "0000507944" "0" "10" "1" "55523483" "55523483" "subst" "0" "02330" "PCSK9_000298" "g.55523483C>T" "" "" "" "PCSK9(NM_174936.4):c.1181-226C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057810C>T" "" "benign" "" "0000507945" "0" "50" "1" "55523739" "55523739" "subst" "4.47151E-5" "02330" "PCSK9_000299" "g.55523739C>T" "" "" "" "PCSK9(NM_174936.4):c.1211C>T (p.P404L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058066C>T" "" "VUS" "" "0000507946" "0" "30" "1" "55523755" "55523755" "subst" "8.12731E-5" "02330" "PCSK9_000300" "g.55523755C>T" "" "" "" "PCSK9(NM_174936.4):c.1227C>T (p.A409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058082C>T" "" "likely benign" "" "0000507947" "0" "50" "1" "55523802" "55523802" "subst" "0.00120287" "02330" "PCSK9_000301" "g.55523802A>G" "" "" "" "PCSK9(NM_174936.4):c.1274A>G (p.N425S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058129A>G" "" "VUS" "" "0000507948" "0" "30" "1" "55523878" "55523878" "subst" "0" "02330" "PCSK9_000302" "g.55523878G>T" "" "" "" "PCSK9(NM_174936.4):c.1350G>T (p.G450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058205G>T" "" "likely benign" "" "0000507949" "0" "50" "1" "55523881" "55523881" "subst" "0" "02330" "PCSK9_000303" "g.55523881A>C" "" "" "" "PCSK9(NM_174936.4):c.1353A>C (p.A451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058208A>C" "" "VUS" "" "0000507950" "0" "30" "1" "55523891" "55523891" "subst" "0.000968856" "02330" "PCSK9_000304" "g.55523891G>T" "" "" "" "PCSK9(NM_174936.4):c.1354+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058218G>T" "" "likely benign" "" "0000507951" "0" "10" "1" "55523984" "55523984" "subst" "0" "02330" "PCSK9_000305" "g.55523984C>T" "" "" "" "PCSK9(NM_174936.4):c.1354+102C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058311C>T" "" "benign" "" "0000507952" "0" "10" "1" "55524116" "55524116" "subst" "0" "02330" "PCSK9_000306" "g.55524116C>T" "" "" "" "PCSK9(NM_174936.3):c.1355-56C>T, PCSK9(NM_174936.4):c.1355-56C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058443C>T" "" "benign" "" "0000507953" "0" "70" "1" "55524195" "55524195" "subst" "4.06147E-5" "02330" "PCSK9_000307" "g.55524195G>A" "" "" "" "PCSK9(NM_174936.4):c.1378G>A (p.V460I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058522G>A" "" "likely pathogenic" "" "0000507954" "0" "70" "1" "55524216" "55524216" "subst" "2.43696E-5" "02330" "PCSK9_000308" "g.55524216C>G" "" "" "" "PCSK9(NM_174936.4):c.1399C>G (p.P467A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058543C>G" "" "likely pathogenic" "" "0000507955" "0" "50" "1" "55524223" "55524223" "subst" "4.06177E-6" "02330" "PCSK9_000309" "g.55524223G>A" "" "" "" "PCSK9(NM_174936.4):c.1406G>A (p.R469Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058550G>A" "" "VUS" "" "0000507956" "0" "50" "1" "55524304" "55524304" "subst" "0.000262931" "02330" "PCSK9_000310" "g.55524304G>A" "" "" "" "PCSK9(NM_174936.4):c.1487G>A (p.R496Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058631G>A" "" "VUS" "" "0000507957" "0" "10" "1" "55524366" "55524391" "del" "0" "02330" "PCSK9_000311" "g.55524366_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+46_1503+71delGTGTGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058693_55058718del" "" "benign" "" "0000507958" "0" "10" "1" "55524372" "55524391" "del" "0" "02330" "PCSK9_000312" "g.55524372_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+52_1503+71delGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058699_55058718del" "" "benign" "" "0000507959" "0" "10" "1" "55524387" "55524387" "subst" "0" "02330" "PCSK9_000313" "g.55524387T>C" "" "" "" "PCSK9(NM_174936.4):c.1503+67T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058714T>C" "" "benign" "" "0000507960" "0" "10" "1" "55524388" "55524391" "dup" "0" "02330" "PCSK9_000314" "g.55524388_55524391dup" "" "" "" "PCSK9(NM_174936.4):c.1503+68_1503+71dupGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058715_55058718dup" "" "benign" "" "0000507961" "0" "30" "1" "55524390" "55524391" "dup" "0" "02330" "PCSK9_000315" "g.55524390_55524391dup" "" "" "" "PCSK9(NM_174936.4):c.1503+70_1503+71dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058717_55058718dup" "" "likely benign" "" "0000507962" "0" "30" "1" "55524390" "55524391" "dup" "0" "02325" "PCSK9_000315" "g.55524390_55524391dup" "" "" "" "PCSK9(NM_174936.4):c.1503+70_1503+71dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058717_55058718dup" "" "likely benign" "" "0000507963" "0" "10" "1" "55524601" "55524601" "subst" "0" "02330" "PCSK9_000316" "g.55524601G>A" "" "" "" "PCSK9(NM_174936.4):c.1503+281G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058928G>A" "" "benign" "" "0000507964" "0" "10" "1" "55524816" "55524816" "subst" "0" "02330" "PCSK9_000317" "g.55524816G>A" "" "" "" "PCSK9(NM_174936.4):c.1504-343G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059143G>A" "" "benign" "" "0000507965" "0" "10" "1" "55524842" "55524842" "subst" "0" "02330" "PCSK9_000318" "g.55524842G>A" "" "" "" "PCSK9(NM_174936.4):c.1504-317G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059169G>A" "" "benign" "" "0000507966" "0" "30" "1" "55524981" "55524981" "subst" "0" "02330" "PCSK9_000319" "g.55524981C>T" "" "" "" "PCSK9(NM_174936.4):c.1504-178C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059308C>T" "" "likely benign" "" "0000507967" "0" "10" "1" "55525143" "55525143" "subst" "0.00309653" "02330" "PCSK9_000320" "g.55525143C>T" "" "" "" "PCSK9(NM_174936.4):c.1504-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059470C>T" "" "benign" "" "0000507968" "0" "30" "1" "55525144" "55525144" "subst" "0" "02330" "PCSK9_000321" "g.55525144G>A" "" "" "" "PCSK9(NM_174936.4):c.1504-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059471G>A" "" "likely benign" "" "0000507969" "0" "70" "1" "55525202" "55525202" "subst" "0" "02330" "PCSK9_000322" "g.55525202G>T" "" "" "" "PCSK9(NM_174936.4):c.1547G>T (p.G516V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059529G>T" "" "likely pathogenic" "" "0000507970" "0" "30" "1" "55525399" "55525399" "subst" "0" "02330" "PCSK9_000323" "g.55525399C>T" "" "" "" "PCSK9(NM_174936.4):c.1681+63C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059726C>T" "" "likely benign" "" "0000507971" "0" "10" "1" "55525400" "55525400" "subst" "0" "02330" "PCSK9_000324" "g.55525400G>A" "" "" "" "PCSK9(NM_174936.4):c.1681+64G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059727G>A" "" "benign" "" "0000507972" "0" "10" "1" "55525722" "55525722" "subst" "0" "02330" "PCSK9_000325" "g.55525722G>A" "" "" "" "PCSK9(NM_174936.4):c.1681+386G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55060049G>A" "" "benign" "" "0000507973" "0" "10" "1" "55525726" "55525726" "subst" "0" "02330" "PCSK9_000326" "g.55525726T>G" "" "" "" "PCSK9(NM_174936.4):c.1681+390T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55060053T>G" "" "benign" "" "0000507974" "0" "10" "1" "55526685" "55526685" "subst" "0" "02330" "PCSK9_000327" "g.55526685G>A" "" "" "" "PCSK9(NM_174936.4):c.1682-363G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55061012G>A" "" "benign" "" "0000507975" "0" "30" "1" "55527133" "55527133" "subst" "0" "02330" "PCSK9_000328" "g.55527133G>T" "" "" "" "PCSK9(NM_174936.4):c.1767G>T (p.V589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55061460G>T" "" "likely benign" "" "0000507976" "0" "30" "1" "55527139" "55527139" "subst" "0.000139196" "02330" "PCSK9_000329" "g.55527139C>G" "" "" "" "PCSK9(NM_174936.4):c.1773C>G (p.H591Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55061466C>G" "" "likely benign" "" "0000507977" "0" "10" "1" "55527323" "55527323" "subst" "0" "02330" "PCSK9_000330" "g.55527323G>A" "" "" "" "PCSK9(NM_174936.4):c.1863+94G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55061650G>A" "" "benign" "" "0000507978" "0" "10" "1" "55527479" "55527479" "subst" "0" "02330" "PCSK9_000331" "g.55527479A>G" "" "" "" "PCSK9(NM_174936.4):c.1863+250A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55061806A>G" "" "benign" "" "0000507979" "0" "30" "1" "55528807" "55528807" "subst" "0" "02330" "PCSK9_000332" "g.55528807G>C" "" "" "" "PCSK9(NM_174936.4):c.1864-235G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063134G>C" "" "likely benign" "" "0000507980" "0" "30" "1" "55529029" "55529029" "subst" "0.000806418" "02330" "PCSK9_000333" "g.55529029C>T" "" "" "" "PCSK9(NM_174936.4):c.1864-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063356C>T" "" "likely benign" "" "0000507981" "0" "50" "1" "55529093" "55529093" "subst" "4.09346E-5" "02330" "PCSK9_000334" "g.55529093C>G" "" "" "" "PCSK9(NM_174936.4):c.1915C>G (p.P639A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063420C>G" "" "VUS" "" "0000507982" "0" "50" "1" "55529100" "55529100" "subst" "4.09095E-6" "02330" "PCSK9_000335" "g.55529100C>T" "" "" "" "PCSK9(NM_174936.4):c.1922C>T (p.T641I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063427C>T" "" "VUS" "" "0000507983" "0" "30" "1" "55529158" "55529158" "subst" "9.35431E-5" "02330" "PCSK9_000336" "g.55529158C>T" "" "" "" "PCSK9(NM_174936.4):c.1980C>T (p.D660=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063485C>T" "" "likely benign" "" "0000507984" "0" "90" "1" "55529215" "55529215" "subst" "0.0005668" "02330" "PCSK9_000337" "g.55529215C>A" "" "" "" "PCSK9(NM_174936.4):c.2037C>A (p.C679*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063542C>A" "" "pathogenic" "" "0000507985" "0" "50" "1" "55529228" "55529228" "subst" "6.60055E-5" "02330" "PCSK9_000338" "g.55529228C>G" "" "" "" "PCSK9(NM_174936.4):c.2050C>G (p.L684V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063555C>G" "" "VUS" "" "0000605834" "0" "10" "1" "55505537" "55505537" "subst" "1.26373E-5" "02330" "PCSK9_000340" "g.55505537C>T" "" "" "" "PCSK9(NM_174936.4):c.27C>T (p.S9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039864C>T" "" "benign" "" "0000605835" "0" "30" "1" "55505555" "55505555" "subst" "0" "02330" "PCSK9_000341" "g.55505555G>A" "" "" "" "PCSK9(NM_174936.4):c.45G>A (p.L15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039882G>A" "" "likely benign" "" "0000605836" "0" "50" "1" "55505646" "55505646" "subst" "0" "02330" "PCSK9_000342" "g.55505646C>T" "" "" "" "PCSK9(NM_174936.4):c.136C>T (p.R46C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039973C>T" "" "VUS" "" "0000605837" "0" "30" "1" "55506103" "55506103" "subst" "0" "02330" "PCSK9_000344" "g.55506103C>G" "" "" "" "PCSK9(NM_174936.4):c.207+386C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55040430C>G" "" "likely benign" "" "0000605838" "0" "30" "1" "55509717" "55509717" "subst" "8.13809E-6" "02330" "PCSK9_000345" "g.55509717C>T" "" "" "" "PCSK9(NM_174936.4):c.399+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55044044C>T" "" "likely benign" "" "0000605839" "0" "30" "1" "55512178" "55512178" "subst" "0" "02330" "PCSK9_000347" "g.55512178C>A" "" "" "" "PCSK9(NM_174936.4):c.400-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046505C>A" "" "likely benign" "" "0000605840" "0" "30" "1" "55518490" "55518490" "subst" "0.000402898" "02330" "PCSK9_000349" "g.55518490C>T" "" "" "" "PCSK9(NM_174936.4):c.799+26C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052817C>T" "" "likely benign" "" "0000605841" "0" "10" "1" "55519174" "55519174" "subst" "0" "02330" "PCSK9_000350" "g.55519174G>A" "" "" "" "PCSK9(NM_174936.4):c.799+710G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55053501G>A" "" "benign" "" "0000605842" "0" "10" "1" "55521870" "55521870" "del" "0.000347937" "02330" "PCSK9_000351" "g.55521870del" "" "" "" "PCSK9(NM_174936.4):c.996+8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056197del" "" "benign" "" "0000605843" "0" "30" "1" "55521903" "55521903" "subst" "0.0017779" "02330" "PCSK9_000352" "g.55521903C>T" "" "" "" "PCSK9(NM_174936.4):c.996+41C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056230C>T" "" "likely benign" "" "0000605844" "0" "30" "1" "55521904" "55521904" "subst" "0.00151798" "02330" "PCSK9_000353" "g.55521904G>A" "" "" "" "PCSK9(NM_174936.4):c.996+42G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056231G>A" "" "likely benign" "" "0000605845" "0" "30" "1" "55521906" "55521906" "subst" "0.0215203" "02330" "PCSK9_000354" "g.55521906A>G" "" "" "" "PCSK9(NM_174936.4):c.996+44A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056233A>G" "" "likely benign" "" "0000605846" "0" "30" "1" "55522116" "55522116" "subst" "0" "02330" "PCSK9_000355" "g.55522116G>C" "" "" "" "PCSK9(NM_174936.4):c.996+254G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056443G>C" "" "likely benign" "" "0000605847" "0" "10" "1" "55522612" "55522612" "del" "0" "02330" "PCSK9_000356" "g.55522612del" "" "" "" "PCSK9(NM_174936.4):c.997-392delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056939del" "" "benign" "" "0000605848" "0" "10" "1" "55522674" "55522674" "subst" "0" "02330" "PCSK9_000357" "g.55522674C>T" "" "" "" "PCSK9(NM_174936.4):c.997-330C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057001C>T" "" "benign" "" "0000605849" "0" "50" "1" "55523077" "55523077" "subst" "4.46813E-5" "02330" "PCSK9_000358" "g.55523077G>A" "" "" "" "PCSK9(NM_174936.4):c.1070G>A (p.R357H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057404G>A" "" "VUS" "" "0000605850" "0" "50" "1" "55523178" "55523178" "subst" "0.000165745" "02330" "PCSK9_000359" "g.55523178C>A" "" "" "" "PCSK9(NM_174936.4):c.1171C>A (p.H391N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057505C>A" "" "VUS" "" "0000605851" "0" "90" "1" "55524211" "55524211" "subst" "2.43706E-5" "02325" "PCSK9_000165" "g.55524211C>T" "" "" "" "PCSK9(NM_174936.4):c.1394C>T (p.S465L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058538C>T" "" "pathogenic" "" "0000605852" "0" "50" "1" "55524320" "55524320" "subst" "4.24383E-6" "02330" "PCSK9_000360" "g.55524320G>A" "" "" "" "PCSK9(NM_174936.4):c.1503G>A (p.E501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058647G>A" "" "VUS" "" "0000605853" "0" "50" "1" "55525301" "55525301" "subst" "0" "02330" "PCSK9_000363" "g.55525301G>A" "" "" "" "PCSK9(NM_174936.4):c.1646G>A (p.R549H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059628G>A" "" "VUS" "" "0000605854" "0" "50" "1" "55527158" "55527158" "subst" "0.0001059" "02330" "PCSK9_000366" "g.55527158G>A" "" "" "" "PCSK9(NM_174936.4):c.1792G>A (p.A598T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55061485G>A" "" "VUS" "" "0000605855" "0" "10" "1" "55528629" "55528629" "subst" "0" "02330" "PCSK9_000367" "g.55528629G>A" "" "" "" "PCSK9(NM_174936.4):c.1864-413G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55062956G>A" "" "benign" "" "0000605856" "0" "30" "1" "55529026" "55529026" "subst" "4.58108E-5" "02330" "PCSK9_000368" "g.55529026C>T" "" "" "" "PCSK9(NM_174936.4):c.1864-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063353C>T" "" "likely benign" "" "0000605857" "0" "30" "1" "55529092" "55529092" "subst" "4.09356E-6" "02330" "PCSK9_000369" "g.55529092C>G" "" "" "" "PCSK9(NM_174936.4):c.1914C>G (p.L638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063419C>G" "" "likely benign" "" "0000605858" "0" "50" "1" "55529216" "55529216" "subst" "0.000308013" "02330" "PCSK9_000371" "g.55529216C>T" "" "" "" "PCSK9(NM_174936.4):c.2038C>T (p.R680W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063543C>T" "" "VUS" "" "0000620662" "0" "30" "1" "55505266" "55505266" "subst" "0" "02330" "PCSK9_000339" "g.55505266G>C" "" "" "" "PCSK9(NM_174936.4):c.-245G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039593G>C" "" "likely benign" "" "0000620663" "0" "50" "1" "55505652" "55505652" "subst" "0" "02325" "PCSK9_000114" "g.55505652G>A" "" "" "" "PCSK9(NM_174936.4):c.142G>A (p.E48K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55039979G>A" "" "VUS" "" "0000620664" "0" "30" "1" "55505804" "55505804" "subst" "0" "02330" "PCSK9_000343" "g.55505804T>A" "" "" "" "PCSK9(NM_174936.4):c.207+87T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55040131T>A" "" "likely benign" "" "0000620665" "0" "30" "1" "55510015" "55510015" "subst" "0" "02330" "PCSK9_000346" "g.55510015C>T" "" "" "" "PCSK9(NM_174936.4):c.399+308C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55044342C>T" "" "likely benign" "" "0000620666" "0" "50" "1" "55518362" "55518362" "subst" "8.17174E-6" "02330" "PCSK9_000348" "g.55518362G>T" "" "" "" "PCSK9(NM_174936.4):c.697G>T (p.V233L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55052689G>T" "" "VUS" "" "0000620667" "0" "50" "1" "55523127" "55523127" "subst" "6.09593E-5" "02330" "PCSK9_000158" "g.55523127G>A" "" "" "" "PCSK9(NM_174936.4):c.1120G>A (p.D374N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55057454G>A" "" "VUS" "" "0000620668" "0" "10" "1" "55524368" "55524391" "del" "0" "02330" "PCSK9_000361" "g.55524368_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+48_1503+71delGTGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058695_55058718del" "" "benign" "" "0000620669" "0" "30" "1" "55525145" "55525145" "subst" "0" "02330" "PCSK9_000362" "g.55525145T>C" "" "" "" "PCSK9(NM_174936.4):c.1504-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55059472T>C" "" "likely benign" "" "0000620670" "0" "30" "1" "55525746" "55525746" "subst" "0" "02330" "PCSK9_000364" "g.55525746A>C" "" "" "" "PCSK9(NM_174936.4):c.1681+410A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55060073A>C" "" "likely benign" "" "0000620671" "0" "10" "1" "55526840" "55526840" "subst" "0" "02330" "PCSK9_000365" "g.55526840C>G" "" "" "" "PCSK9(NM_174936.4):c.1682-208C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55061167C>G" "" "benign" "" "0000620672" "0" "50" "1" "55529180" "55529180" "subst" "4.88814E-5" "02330" "PCSK9_000370" "g.55529180A>G" "" "" "" "PCSK9(NM_174936.4):c.2002A>G (p.S668G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063507A>G" "" "VUS" "" "0000647742" "1" "30" "1" "55505647" "55505647" "subst" "0.0120205" "03575" "PCSK9_000111" "g.55505647G>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs11591147}" "Germline" "" "rs11591147" "0" "" "" "g.55039974G>T" "" "likely benign" "" "0000647743" "1" "70" "1" "55518037" "55518037" "subst" "1.62484E-5" "03575" "PCSK9_000105" "g.55518037G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs793888521}" "Germline" "" "rs793888521" "0" "" "" "g.55052364G>A" "" "likely pathogenic" "" "0000654068" "0" "50" "1" "55509702" "55509702" "subst" "0" "02330" "PCSK9_000372" "g.55509702G>A" "" "" "" "PCSK9(NM_174936.4):c.394G>A (p.E132K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55044029G>A" "" "VUS" "" "0000654069" "0" "30" "1" "55511628" "55511628" "dup" "0" "02330" "PCSK9_000373" "g.55511628dup" "" "" "" "PCSK9(NM_174936.4):c.400-568dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55045955dup" "" "likely benign" "" "0000654070" "0" "70" "1" "55512289" "55512289" "subst" "6.49915E-5" "02330" "PCSK9_000374" "g.55512289C>T" "" "" "" "PCSK9(NM_174936.4):c.493C>T (p.R165W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55046616C>T" "" "likely pathogenic" "" "0000654071" "0" "30" "1" "55522425" "55522425" "subst" "0" "02330" "PCSK9_000375" "g.55522425G>A" "" "" "" "PCSK9(NM_174936.4):c.996+563G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55056752G>A" "" "likely benign" "" "0000654072" "0" "50" "1" "55524219" "55524219" "subst" "0" "02330" "PCSK9_000376" "g.55524219A>G" "" "" "" "PCSK9(NM_174936.4):c.1402A>G (p.T468A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55058546A>G" "" "VUS" "" "0000654073" "0" "10" "1" "55525868" "55525868" "subst" "0" "02330" "PCSK9_000377" "g.55525868C>T" "" "" "" "PCSK9(NM_174936.4):c.1681+532C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55060195C>T" "" "benign" "" "0000654074" "0" "30" "1" "55529107" "55529107" "subst" "0.000134812" "02330" "PCSK9_000378" "g.55529107C>T" "" "" "" "PCSK9(NM_174936.4):c.1929C>T (p.H643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55063434C>T" "" "likely benign" "" "0000675885" "0" "50" "1" "55505180" "55505180" "subst" "0" "02330" "PCSK9_000379" "g.55505180C>A" "" "" "" "PCSK9(NM_174936.4):c.-331C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675886" "0" "30" "1" "55517939" "55517939" "subst" "1.62493E-5" "02330" "PCSK9_000380" "g.55517939C>T" "" "" "" "PCSK9(NM_174936.4):c.524-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675887" "0" "50" "1" "55518016" "55518016" "subst" "8.12407E-6" "02330" "PCSK9_000381" "g.55518016G>A" "" "" "" "PCSK9(NM_174936.4):c.589G>A (p.E197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675888" "0" "30" "1" "55518063" "55518063" "subst" "2.43815E-5" "02330" "PCSK9_000382" "g.55518063C>T" "" "" "" "PCSK9(NM_174936.4):c.636C>T (p.D212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675889" "0" "30" "1" "55521234" "55521234" "subst" "0" "02330" "PCSK9_000383" "g.55521234C>A" "" "" "" "PCSK9(NM_174936.4):c.800-432C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675890" "0" "30" "1" "55521808" "55521808" "subst" "2.50863E-5" "02330" "PCSK9_000384" "g.55521808T>C" "" "" "" "PCSK9(NM_174936.4):c.942T>C (p.A314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675891" "0" "30" "1" "55523833" "55523833" "subst" "0" "02330" "PCSK9_000385" "g.55523833A>C" "" "" "" "PCSK9(NM_174936.4):c.1305A>C (p.V435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675892" "0" "50" "1" "55527201" "55527201" "subst" "0" "02330" "PCSK9_000386" "g.55527201A>G" "" "" "" "PCSK9(NM_174936.4):c.1835A>G (p.E612G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688206" "0" "50" "1" "55505545" "55505545" "subst" "9.4399E-5" "02330" "PCSK9_000387" "g.55505545C>T" "" "" "" "PCSK9(NM_174936.4):c.35C>T (p.P12L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688207" "0" "50" "1" "55509574" "55509574" "subst" "4.06458E-6" "02330" "PCSK9_000388" "g.55509574C>T" "" "" "" "PCSK9(NM_174936.4):c.266C>T (p.S89L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688208" "0" "50" "1" "55509594" "55509594" "subst" "2.03156E-5" "02327" "PCSK9_000123" "g.55509594C>T" "" "" "" "PCSK9(NM_174936.4):c.286C>T (p.R96C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688209" "0" "30" "1" "55523894" "55523894" "subst" "4.13791E-6" "02330" "PCSK9_000389" "g.55523894G>A" "" "" "" "PCSK9(NM_174936.4):c.1354+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717557" "0" "50" "1" "55505657" "55505657" "subst" "0" "02330" "PCSK9_000390" "g.55505657G>C" "" "" "" "PCSK9(NM_174936.4):c.147G>C (p.E49D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717558" "0" "10" "1" "55514158" "55514158" "subst" "0" "02330" "PCSK9_000391" "g.55514158G>T" "" "" "" "PCSK9(NM_174936.4):c.523+1839G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717559" "0" "30" "1" "55518484" "55518484" "subst" "0.000111916" "02330" "PCSK9_000392" "g.55518484G>A" "" "" "" "PCSK9(NM_174936.4):c.799+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717560" "0" "30" "1" "55524308" "55524308" "subst" "0.000369829" "02330" "PCSK9_000393" "g.55524308C>T" "" "" "" "PCSK9(NM_174936.4):c.1491C>T (p.G497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717561" "0" "30" "1" "55524362" "55524391" "del" "0" "02330" "PCSK9_000394" "g.55524362_55524391del" "" "" "" "PCSK9(NM_174936.4):c.1503+42_1503+71delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717562" "0" "30" "1" "55527217" "55527217" "subst" "0.000136697" "02330" "PCSK9_000395" "g.55527217C>T" "" "" "" "PCSK9(NM_174936.4):c.1851C>T (p.A617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717563" "0" "50" "1" "55529156" "55529156" "subst" "4.06699E-6" "02330" "PCSK9_000396" "g.55529156G>A" "" "" "" "PCSK9(NM_174936.4):c.1978G>A (p.D660N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799425" "0" "30" "1" "55505684" "55505684" "subst" "0" "02330" "PCSK9_000397" "g.55505684C>T" "" "" "" "PCSK9(NM_174936.4):c.174C>T (p.H58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799426" "0" "30" "1" "55505708" "55505708" "subst" "2.96697E-5" "02330" "PCSK9_000398" "g.55505708C>T" "" "" "" "PCSK9(NM_174936.4):c.198C>T (p.R66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799427" "0" "50" "1" "55509509" "55509509" "subst" "2.86095E-5" "02330" "PCSK9_000399" "g.55509509G>A" "" "" "" "PCSK9(NM_174936.4):c.208-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799428" "0" "50" "1" "55512298" "55512298" "subst" "4.06276E-6" "02330" "PCSK9_000400" "g.55512298G>A" "" "" "" "PCSK9(NM_174936.4):c.502G>A (p.A168T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799429" "0" "30" "1" "55512338" "55512338" "subst" "0" "02330" "PCSK9_000401" "g.55512338C>T" "" "" "" "PCSK9(NM_174936.4):c.523+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799430" "0" "30" "1" "55518091" "55518091" "subst" "0.00010579" "02330" "PCSK9_000402" "g.55518091A>C" "" "" "" "PCSK9(NM_174936.4):c.657+7A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799431" "0" "30" "1" "55521805" "55521805" "subst" "5.45559E-5" "02330" "PCSK9_000403" "g.55521805C>T" "" "" "" "PCSK9(NM_174936.4):c.939C>T (p.T313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799432" "0" "50" "1" "55523105" "55523105" "subst" "0" "02330" "PCSK9_000404" "g.55523105G>C" "" "" "" "PCSK9(NM_174936.4):c.1098G>C (p.E366D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799433" "0" "50" "1" "55523779" "55523779" "subst" "0.000199109" "02330" "PCSK9_000405" "g.55523779C>A" "" "" "" "PCSK9(NM_174936.4):c.1251C>A (p.H417Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799434" "0" "50" "1" "55523822" "55523822" "subst" "5.69268E-5" "02330" "PCSK9_000406" "g.55523822G>A" "" "" "" "PCSK9(NM_174936.4):c.1294G>A (p.D432N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799435" "0" "30" "1" "55524651" "55524651" "subst" "0" "02330" "PCSK9_000407" "g.55524651A>G" "" "" "" "PCSK9(NM_174936.4):c.1503+331A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799436" "0" "50" "1" "55527131" "55527131" "subst" "0" "02330" "PCSK9_000408" "g.55527131G>A" "" "" "" "PCSK9(NM_174936.4):c.1765G>A (p.V589M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799437" "0" "30" "1" "55529137" "55529137" "subst" "3.6605E-5" "02330" "PCSK9_000409" "g.55529137G>A" "" "" "" "PCSK9(NM_174936.4):c.1959G>A (p.T653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799438" "0" "50" "1" "55529159" "55529159" "subst" "1.62686E-5" "02330" "PCSK9_000410" "g.55529159G>A" "" "" "" "PCSK9(NM_174936.4):c.1981G>A (p.V661I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799439" "0" "50" "1" "55529201" "55529201" "subst" "1.22727E-5" "02330" "PCSK9_000411" "g.55529201G>A" "" "" "" "PCSK9(NM_174936.4):c.2023G>A (p.V675I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847946" "0" "50" "1" "55521922" "55521922" "subst" "0" "03779" "PCSK9_000412" "g.55521922G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000848767" "0" "30" "1" "55509717" "55509717" "subst" "0.000105795" "02330" "PCSK9_000413" "g.55509717C>G" "" "" "" "PCSK9(NM_174936.4):c.399+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848768" "0" "30" "1" "55518096" "55518096" "subst" "2.44345E-5" "02330" "PCSK9_000415" "g.55518096C>T" "" "" "" "PCSK9(NM_174936.4):c.657+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848769" "0" "50" "1" "55518331" "55518331" "subst" "0" "02330" "PCSK9_000416" "g.55518331G>C" "" "" "" "PCSK9(NM_174936.4):c.666G>C (p.K222N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848770" "0" "30" "1" "55518385" "55518385" "subst" "0.00502932" "02326" "PCSK9_000144" "g.55518385C>T" "" "" "" "PCSK9(NM_174936.3):c.720C>T (p.G240=), PCSK9(NM_174936.4):c.720C>T (p.G240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848771" "0" "50" "1" "55518412" "55518412" "subst" "1.63796E-5" "02330" "PCSK9_000417" "g.55518412C>A" "" "" "" "PCSK9(NM_174936.4):c.747C>A (p.S249R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848772" "0" "30" "1" "55523180" "55523180" "subst" "6.64938E-5" "02330" "PCSK9_000421" "g.55523180C>T" "" "" "" "PCSK9(NM_174936.4):c.1173C>T (p.H391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848773" "0" "10" "1" "55524382" "55524391" "dup" "0" "02330" "PCSK9_000422" "g.55524382_55524391dup" "" "" "" "PCSK9(NM_174936.4):c.1503+60_1503+69dupGTGTGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848774" "0" "50" "1" "55525315" "55525315" "subst" "0.000193933" "02330" "PCSK9_000424" "g.55525315C>G" "" "" "" "PCSK9(NM_174936.4):c.1660C>G (p.Q554E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848775" "0" "30" "1" "55527249" "55527249" "subst" "2.24921E-5" "02330" "PCSK9_000428" "g.55527249C>T" "" "" "" "PCSK9(NM_174936.4):c.1863+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848776" "0" "30" "1" "55529028" "55529028" "subst" "0" "02330" "PCSK9_000429" "g.55529028T>C" "" "" "" "PCSK9(NM_174936.4):c.1864-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848777" "0" "50" "1" "55529157" "55529157" "subst" "4.06669E-5" "02330" "PCSK9_000431" "g.55529157A>C" "" "" "" "PCSK9(NM_174936.4):c.1979A>C (p.D660A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857537" "0" "50" "1" "55512319" "55512319" "subst" "8.13974E-6" "02330" "PCSK9_000107" "g.55512319G>A" "" "" "" "PCSK9(NM_174936.4):c.523G>A (p.D175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857538" "0" "30" "1" "55512339" "55512339" "subst" "4.08771E-6" "02330" "PCSK9_000414" "g.55512339C>T" "" "" "" "PCSK9(NM_174936.4):c.523+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857539" "0" "50" "1" "55518417" "55518417" "subst" "4.50572E-5" "02330" "PCSK9_000418" "g.55518417G>A" "" "" "" "PCSK9(NM_174936.4):c.752G>A (p.R251H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857540" "0" "50" "1" "55518422" "55518422" "subst" "0.000208936" "02330" "PCSK9_000419" "g.55518422C>T" "" "" "" "PCSK9(NM_174936.4):c.757C>T (p.L253F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857541" "0" "50" "1" "55523038" "55523038" "subst" "0" "02330" "PCSK9_000420" "g.55523038A>G" "" "" "" "PCSK9(NM_174936.4):c.1031A>G (p.Q344R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857542" "0" "50" "1" "55525261" "55525261" "subst" "0.000151783" "02330" "PCSK9_000423" "g.55525261G>A" "" "" "" "PCSK9(NM_174936.4):c.1606G>A (p.V536I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857543" "0" "50" "1" "55527093" "55527093" "subst" "0.00015136" "02330" "PCSK9_000425" "g.55527093C>T" "" "" "" "PCSK9(NM_174936.4):c.1727C>T (p.P576L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857544" "0" "30" "1" "55527094" "55527094" "subst" "3.36584E-5" "02330" "PCSK9_000426" "g.55527094G>A" "" "" "" "PCSK9(NM_174936.4):c.1728G>A (p.P576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857545" "0" "50" "1" "55527216" "55527216" "subst" "0" "02330" "PCSK9_000427" "g.55527216C>A" "" "" "" "PCSK9(NM_174936.4):c.1850C>A (p.A617D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857546" "0" "30" "1" "55529125" "55529125" "subst" "1.22145E-5" "02330" "PCSK9_000430" "g.55529125C>T" "" "" "" "PCSK9(NM_174936.4):c.1947C>T (p.A649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857547" "0" "30" "1" "55529191" "55529191" "subst" "2.86254E-5" "02330" "PCSK9_000432" "g.55529191C>T" "" "" "" "PCSK9(NM_174936.4):c.2013C>T (p.A671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883502" "0" "50" "1" "55505702" "55505702" "subst" "0" "02330" "PCSK9_000433" "g.55505702C>A" "" "" "" "PCSK9(NM_174936.4):c.192C>A (p.F64L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883503" "0" "50" "1" "55505707" "55505707" "subst" "0" "02330" "PCSK9_000434" "g.55505707G>A" "" "" "" "PCSK9(NM_174936.4):c.197G>A (p.R66H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883504" "0" "30" "1" "55505708" "55505708" "subst" "2.37358E-5" "02330" "PCSK9_000435" "g.55505708C>A" "" "" "" "PCSK9(NM_174936.4):c.198C>A (p.R66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883505" "0" "30" "1" "55509502" "55509502" "subst" "2.45445E-5" "02330" "PCSK9_000436" "g.55509502T>G" "" "" "" "PCSK9(NM_174936.4):c.208-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883506" "0" "50" "1" "55509598" "55509598" "subst" "0.000142207" "02330" "PCSK9_000437" "g.55509598G>A" "" "" "" "PCSK9(NM_174936.4):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883507" "0" "50" "1" "55512197" "55512197" "subst" "8.1215E-6" "02330" "PCSK9_000438" "g.55512197C>A" "" "" "" "PCSK9(NM_174936.4):c.401C>A (p.A134D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883508" "0" "50" "1" "55512316" "55512316" "subst" "7.73043E-5" "02330" "PCSK9_000439" "g.55512316C>T" "" "" "" "PCSK9(NM_174936.4):c.520C>T (p.P174S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883509" "0" "50" "1" "55517956" "55517956" "subst" "4.062E-6" "02330" "PCSK9_000440" "g.55517956G>T" "" "" "" "PCSK9(NM_174936.4):c.529G>T (p.G177C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883510" "0" "30" "1" "55518314" "55518314" "subst" "3.2737E-5" "02330" "PCSK9_000441" "g.55518314G>A" "" "" "" "PCSK9(NM_174936.4):c.658-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883511" "0" "50" "1" "55521656" "55521656" "subst" "0" "02330" "PCSK9_000442" "g.55521656T>C" "" "" "" "PCSK9(NM_174936.4):c.800-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883512" "0" "30" "1" "55521780" "55521780" "subst" "0" "02330" "PCSK9_000443" "g.55521780C>T" "" "" "" "PCSK9(NM_174936.4):c.914C>T (p.A305V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883513" "0" "50" "1" "55521827" "55521827" "subst" "0" "02330" "PCSK9_000444" "g.55521827G>A" "" "" "" "PCSK9(NM_174936.4):c.961G>A (p.D321N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883514" "0" "30" "1" "55523030" "55523030" "subst" "0" "02330" "PCSK9_000445" "g.55523030C>T" "" "" "" "PCSK9(NM_174936.4):c.1023C>T (p.A341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883515" "0" "50" "1" "55524214" "55524214" "subst" "8.12328E-6" "02330" "PCSK9_000446" "g.55524214G>A" "" "" "" "PCSK9(NM_174936.4):c.1397G>A (p.G466E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883516" "0" "30" "1" "55524239" "55524239" "subst" "3.6564E-5" "02330" "PCSK9_000447" "g.55524239C>T" "" "" "" "PCSK9(NM_174936.4):c.1422C>T (p.V474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883517" "0" "70" "1" "55525200" "55525200" "dup" "0" "02330" "PCSK9_000448" "g.55525200dup" "" "" "" "PCSK9(NM_174936.4):c.1545dupT (p.G516Wfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000883518" "0" "50" "1" "55527182" "55527182" "subst" "4.39024E-6" "02330" "PCSK9_000449" "g.55527182C>G" "" "" "" "PCSK9(NM_174936.4):c.1816C>G (p.L606V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883519" "0" "30" "1" "55527242" "55527242" "subst" "0" "02330" "PCSK9_000450" "g.55527242G>A" "" "" "" "PCSK9(NM_174936.4):c.1863+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883520" "0" "30" "1" "55529056" "55529056" "subst" "0.000139693" "02330" "PCSK9_000451" "g.55529056C>T" "" "" "" "PCSK9(NM_174936.4):c.1878C>T (p.C626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883521" "0" "50" "1" "55529108" "55529108" "subst" "4.08537E-5" "02330" "PCSK9_000452" "g.55529108G>A" "" "" "" "PCSK9(NM_174936.4):c.1930G>A (p.V644I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911092" "0" "50" "1" "55509606" "55509606" "subst" "3.24997E-5" "02330" "PCSK9_000453" "g.55509606G>A" "" "" "" "PCSK9(NM_174936.4):c.298G>A (p.A100T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911093" "0" "30" "1" "55509704" "55509704" "subst" "1.21914E-5" "02330" "PCSK9_000454" "g.55509704G>A" "" "" "" "PCSK9(NM_174936.4):c.396G>A (p.E132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911094" "0" "50" "1" "55518383" "55518383" "subst" "2.04417E-5" "02330" "PCSK9_000455" "g.55518383G>A" "" "" "" "PCSK9(NM_174936.4):c.718G>A (p.G240S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911095" "0" "30" "1" "55521781" "55521781" "subst" "0" "02330" "PCSK9_000456" "g.55521781G>A" "" "" "" "PCSK9(NM_174936.4):c.915G>A (p.A305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911096" "0" "30" "1" "55522987" "55522987" "subst" "2.03683E-5" "02330" "PCSK9_000457" "g.55522987C>T" "" "" "" "PCSK9(NM_174936.4):c.997-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911097" "0" "30" "1" "55523183" "55523183" "subst" "0" "02330" "PCSK9_000458" "g.55523183G>T" "" "" "" "PCSK9(NM_174936.4):c.1176G>T (p.V392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911098" "0" "30" "1" "55523740" "55523740" "subst" "2.03254E-5" "02330" "PCSK9_000459" "g.55523740G>A" "" "" "" "PCSK9(NM_174936.4):c.1212G>A (p.P404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911099" "0" "50" "1" "55525203" "55525203" "subst" "3.63161E-5" "02330" "PCSK9_000460" "g.55525203G>A" "" "" "" "PCSK9(NM_174936.4):c.1548G>A (p.G516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911100" "0" "50" "1" "55529153" "55529153" "subst" "3.66041E-5" "02330" "PCSK9_000461" "g.55529153C>T" "" "" "" "PCSK9(NM_174936.4):c.1975C>T (p.R659W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923208" "0" "30" "1" "55523809" "55523809" "subst" "0" "02330" "PCSK9_000462" "g.55523809C>T" "" "" "" "PCSK9(NM_174936.4):c.1281C>T (p.A427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923209" "0" "50" "1" "55529147" "55529147" "subst" "6.09945E-5" "02330" "PCSK9_000463" "g.55529147A>G" "" "" "" "PCSK9(NM_174936.4):c.1969A>G (p.R657G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923210" "0" "30" "1" "55529212" "55529212" "subst" "0" "02330" "PCSK9_000464" "g.55529212C>T" "" "" "" "PCSK9(NM_174936.4):c.2034C>T (p.C678=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923211" "0" "50" "1" "55529222" "55529222" "subst" "2.05882E-5" "02330" "PCSK9_000465" "g.55529222C>T" "" "" "" "PCSK9(NM_174936.4):c.2044C>T (p.R682W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928185" "0" "30" "1" "55505585" "55505585" "subst" "1.81414E-5" "02330" "PCSK9_000466" "g.55505585C>T" "" "" "" "PCSK9(NM_174936.4):c.75C>T (p.P25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928186" "0" "50" "1" "55523756" "55523756" "subst" "2.03189E-5" "02330" "PCSK9_000467" "g.55523756G>A" "" "" "" "PCSK9(NM_174936.4):c.1228G>A (p.E410K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928187" "0" "50" "1" "55523855" "55523855" "subst" "0" "02330" "PCSK9_000468" "g.55523855G>T" "" "" "" "PCSK9(NM_174936.4):c.1327G>T (p.A443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928188" "0" "50" "1" "55524219" "55524219" "subst" "0" "02330" "PCSK9_000469" "g.55524219A>C" "" "" "" "PCSK9(NM_174936.4):c.1402A>C (p.T468P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928189" "0" "50" "1" "55525195" "55525195" "subst" "0" "02330" "PCSK9_000470" "g.55525195G>C" "" "" "" "PCSK9(NM_174936.4):c.1540G>C (p.A514P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928190" "0" "50" "1" "55529243" "55529243" "subst" "4.15828E-6" "02330" "PCSK9_000471" "g.55529243C>T" "" "" "" "PCSK9(NM_174936.4):c.2065C>T (p.Q689*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000932977" "0" "50" "1" "55509693" "55509693" "subst" "1.62473E-5" "03779" "PCSK9_000248" "g.55509693G>A" "" "" "" "" "" "Unknown" "" "rs778738291" "0" "" "" "" "" "VUS" "" "0000947272" "0" "50" "1" "55509582" "55509582" "subst" "8.12658E-6" "02330" "PCSK9_000472" "g.55509582G>C" "" "" "" "PCSK9(NM_174936.4):c.274G>C (p.E92Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947273" "0" "50" "1" "55525280" "55525280" "subst" "0" "02330" "PCSK9_000473" "g.55525280C>T" "" "" "" "PCSK9(NM_174936.4):c.1625C>T (p.A542V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947274" "0" "30" "1" "55527028" "55527028" "subst" "0" "02330" "PCSK9_000474" "g.55527028C>A" "" "" "" "PCSK9(NM_174936.4):c.1682-20C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952260" "21" "90" "1" "55524211" "55524211" "subst" "2.43706E-5" "00006" "PCSK9_000165" "g.55524211C>T" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "Germline" "" "" "0" "" "" "g.55058538C>T" "" "pathogenic (dominant)" "" "0000961097" "0" "30" "1" "55505266" "55505266" "subst" "0" "02330" "PCSK9_000475" "g.55505266G>T" "" "" "" "PCSK9(NM_174936.4):c.-245G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961098" "0" "30" "1" "55509273" "55509273" "subst" "0" "02330" "PCSK9_000476" "g.55509273C>T" "" "" "" "PCSK9(NM_174936.4):c.208-243C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961099" "0" "30" "1" "55518374" "55518374" "subst" "0.000703413" "02325" "PCSK9_000143" "g.55518374C>T" "" "" "" "PCSK9(NM_174936.4):c.709C>T (p.R237W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961100" "0" "30" "1" "55521697" "55521697" "subst" "0" "02330" "PCSK9_000477" "g.55521697C>G" "" "" "" "PCSK9(NM_174936.4):c.831C>G (p.V277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961101" "0" "30" "1" "55521745" "55521745" "subst" "0" "02330" "PCSK9_000478" "g.55521745C>T" "" "" "" "PCSK9(NM_174936.4):c.879C>T (p.Y293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961102" "0" "30" "1" "55521802" "55521802" "subst" "1.46507E-5" "02330" "PCSK9_000479" "g.55521802C>T" "" "" "" "PCSK9(NM_174936.4):c.936C>T (p.V312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961103" "0" "10" "1" "55524116" "55524116" "subst" "0" "02326" "PCSK9_000306" "g.55524116C>T" "" "" "" "PCSK9(NM_174936.3):c.1355-56C>T, PCSK9(NM_174936.4):c.1355-56C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961104" "0" "30" "1" "55524386" "55524391" "dup" "0" "02330" "PCSK9_000480" "g.55524386_55524391dup" "" "" "" "PCSK9(NM_174936.4):c.1503+62_1503+67dupGTGTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961105" "0" "30" "1" "55526716" "55526716" "subst" "0" "02330" "PCSK9_000481" "g.55526716C>T" "" "" "" "PCSK9(NM_174936.4):c.1682-332C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974034" "0" "50" "1" "55509621" "55509621" "subst" "1.21854E-5" "02330" "PCSK9_000482" "g.55509621C>T" "" "" "" "PCSK9(NM_174936.4):c.313C>T (p.R105W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974035" "0" "30" "1" "55512261" "55512261" "subst" "2.03046E-5" "02330" "PCSK9_000483" "g.55512261G>A" "" "" "" "PCSK9(NM_174936.4):c.465G>A (p.P155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974036" "0" "30" "1" "55525218" "55525218" "subst" "9.95186E-5" "02330" "PCSK9_000484" "g.55525218C>T" "" "" "" "PCSK9(NM_174936.4):c.1563C>T (p.Y521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974037" "0" "30" "1" "55529122" "55529122" "subst" "6.518E-5" "02330" "PCSK9_000485" "g.55529122C>T" "" "" "" "PCSK9(NM_174936.4):c.1944C>T (p.Y648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991344" "0" "50" "1" "55505610" "55505610" "subst" "1.68961E-5" "02330" "PCSK9_000486" "g.55505610G>A" "" "" "" "PCSK9(NM_174936.4):c.100G>A (p.E34K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991345" "0" "30" "1" "55518304" "55518304" "subst" "0" "02330" "PCSK9_000487" "g.55518304C>G" "" "" "" "PCSK9(NM_174936.4):c.658-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991346" "0" "50" "1" "55518408" "55518408" "subst" "6.14361E-5" "02330" "PCSK9_000488" "g.55518408G>A" "" "" "" "PCSK9(NM_174936.4):c.743G>A (p.R248H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991347" "0" "50" "1" "55518416" "55518416" "subst" "2.04806E-5" "02330" "PCSK9_000489" "g.55518416C>T" "" "" "" "PCSK9(NM_174936.4):c.751C>T (p.R251C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991348" "0" "30" "1" "55524160" "55524160" "subst" "1.62483E-5" "02330" "PCSK9_000490" "g.55524160C>T" "" "" "" "PCSK9(NM_174936.4):c.1355-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991349" "0" "30" "1" "55525311" "55525311" "subst" "0" "02330" "PCSK9_000491" "g.55525311C>T" "" "" "" "PCSK9(NM_174936.4):c.1656C>T (p.C552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991350" "0" "30" "1" "55527248" "55527248" "subst" "0" "02330" "PCSK9_000492" "g.55527248C>A" "" "" "" "PCSK9(NM_174936.4):c.1863+19C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991351" "0" "50" "1" "55529176" "55529176" "subst" "1.22151E-5" "02330" "PCSK9_000493" "g.55529176C>A" "" "" "" "PCSK9(NM_174936.4):c.1998C>A (p.S666R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013332" "0" "30" "1" "55518476" "55518476" "subst" "1.24052E-5" "02330" "PCSK9_000494" "g.55518476C>A" "" "" "" "PCSK9(NM_174936.4):c.799+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013333" "0" "30" "1" "55523697" "55523697" "subst" "0" "02330" "PCSK9_000495" "g.55523697C>A" "" "" "" "PCSK9(NM_174936.4):c.1181-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013334" "0" "50" "1" "55525284" "55525284" "subst" "0" "02330" "PCSK9_000496" "g.55525284G>T" "" "" "" "PCSK9(NM_174936.4):c.1629G>T (p.E543D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032127" "0" "30" "1" "55521769" "55521769" "subst" "0" "02330" "PCSK9_000497" "g.55521769C>T" "" "" "" "PCSK9(NM_174936.4):c.903C>T (p.C301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032128" "0" "50" "1" "55523181" "55523181" "subst" "0" "02330" "PCSK9_000498" "g.55523181G>A" "" "" "" "PCSK9(NM_174936.4):c.1174G>A (p.V392M)" "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 PCSK9 ## Count = 403 "{{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}}" "0000060682" "00015847" "50" "449" "0" "450" "0" "c.449_450del" "r.(?)" "p.(Phe150Cysfs*20)" "3" "0000060684" "00015847" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Asp204Asn)" "4" "0000084676" "00015847" "50" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "5" "0000245424" "00015847" "10" "1026" "0" "1026" "0" "c.1026A>G" "r.(?)" "p.(Gln342=)" "" "0000245425" "00015847" "10" "1380" "0" "1380" "0" "c.1380A>G" "r.(?)" "p.(Val460=)" "" "0000245429" "00015847" "10" "799" "3" "799" "3" "c.799+3A>G" "r.spl?" "p.?" "" "0000245473" "00015847" "10" "1856" "0" "1856" "0" "c.1856A>C" "r.(?)" "p.(Gln619Pro)" "" "0000245543" "00015847" "30" "399" "4" "399" "4" "c.399+4A>G" "r.spl?" "p.?" "" "0000245549" "00015847" "30" "1658" "0" "1658" "0" "c.1658A>G" "r.(?)" "p.(His553Arg)" "" "0000248352" "00015847" "10" "1026" "0" "1026" "0" "c.1026A>G" "r.(?)" "p.(Gln342=)" "" "0000248353" "00015847" "10" "1380" "0" "1380" "0" "c.1380A>G" "r.(?)" "p.(Val460=)" "" "0000248425" "00015847" "10" "799" "3" "799" "3" "c.799+3A>G" "r.spl?" "p.?" "" "0000293490" "00015847" "10" "1011" "0" "1011" "0" "c.1011G>A" "r.(?)" "p.(Gly337=)" "" "0000293491" "00015847" "30" "1020" "0" "1020" "0" "c.1020T>C" "r.(?)" "p.(Asn340=)" "" "0000293492" "00015847" "10" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Ser373=)" "" "0000293493" "00015847" "90" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Asp374Tyr)" "" "0000293494" "00015847" "50" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Gly394Ser)" "" "0000293495" "00015847" "10" "1206" "0" "1206" "0" "c.1206C>T" "r.(?)" "p.(Ala402=)" "" "0000293496" "00015847" "50" "1268" "0" "1268" "0" "c.1268T>C" "r.(?)" "p.(Val423Ala)" "" "0000293497" "00015847" "10" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Ala442=)" "" "0000293498" "00015847" "10" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Ala443Thr)" "" "0000293499" "00015847" "30" "137" "0" "137" "0" "c.137G>T" "r.(?)" "p.(Arg46Leu)" "" "0000293500" "00015847" "70" "1394" "0" "1394" "0" "c.1394C>T" "r.(?)" "p.(Ser465Leu)" "" "0000293501" "00015847" "10" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Ser465=)" "" "0000293502" "00015847" "50" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" "0000293503" "00015847" "10" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Ser47=)" "" "0000293504" "00015847" "10" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Val474Ile)" "" "0000293505" "00015847" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "" "0000293506" "00015847" "10" "1431" "0" "1431" "0" "c.1431C>T" "r.(?)" "p.(Cys477=)" "" "0000293507" "00015847" "70" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Glu49Lys)" "" "0000293508" "00015847" "70" "1484" "0" "1484" "0" "c.1484G>A" "r.(?)" "p.(Arg495Gln)" "" "0000293509" "00015847" "70" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Arg496Trp)" "" "0000293510" "00015847" "10" "1503" "70" "1503" "71" "c.1503+70_1503+71del" "r.(=)" "p.(=)" "" "0000293511" "00015847" "30" "1503" "68" "1503" "71" "c.1503+68_1503+71del" "r.(=)" "p.(=)" "" "0000293512" "00015847" "30" "1503" "66" "1503" "71" "c.1503+66_1503+71del" "r.(=)" "p.(=)" "" "0000293513" "00015847" "10" "1503" "60" "1503" "71" "c.1503+60_1503+71del" "r.(=)" "p.(=)" "" "0000293514" "00015847" "10" "1503" "58" "1503" "71" "c.1503+58_1503+71del" "r.(=)" "p.(=)" "" "0000293515" "00015847" "30" "1503" "56" "1503" "71" "c.1503+56_1503+71del" "r.(=)" "p.(=)" "" "0000293516" "00015847" "10" "1503" "54" "1503" "71" "c.1503+54_1503+71del" "r.(=)" "p.(=)" "" "0000293517" "00015847" "10" "1503" "50" "1503" "71" "c.1503+50_1503+71del" "r.(=)" "p.(=)" "" "0000293523" "00015847" "30" "1503" "62" "1503" "71" "c.1503+62_1503+71del" "r.(=)" "p.(=)" "" "0000293526" "00015847" "30" "1503" "64" "1503" "71" "c.1503+64_1503+71del" "r.(=)" "p.(=)" "" "0000293542" "00015847" "50" "1504" "-5" "1504" "-5" "c.1504-5C>G" "r.spl?" "p.?" "" "0000293543" "00015847" "30" "1504" "-7" "1504" "-7" "c.1504-7C>T" "r.(=)" "p.(=)" "" "0000293544" "00015847" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(Asn513=)" "" "0000293545" "00015847" "10" "1560" "0" "1560" "0" "c.1560C>T" "r.(?)" "p.(Val520=)" "" "0000293546" "00015847" "30" "158" "0" "158" "0" "c.158C>G" "r.(?)" "p.(Ala53Gly)" "" "0000293547" "00015847" "10" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ala53Val)" "" "0000293548" "00015847" "30" "1681" "10" "1681" "10" "c.1681+10T>C" "r.(=)" "p.(=)" "" "0000293549" "00015847" "10" "1681" "17" "1681" "17" "c.1681+17G>A" "r.(=)" "p.(=)" "" "0000293550" "00015847" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Glu57Lys)" "" "0000293551" "00015847" "10" "1863" "11" "1863" "11" "c.1863+11C>G" "r.(=)" "p.(=)" "" "0000293552" "00015847" "10" "1869" "0" "1869" "0" "c.1869C>T" "r.(?)" "p.(Thr623=)" "" "0000293553" "00015847" "70" "1976" "0" "1976" "0" "c.1976G>T" "r.(?)" "p.(Arg659Leu)" "" "0000293554" "00015847" "10" "2004" "0" "2004" "0" "c.2004C>T" "r.(?)" "p.(Ser668=)" "" "0000293555" "00015847" "10" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Gly670Glu)" "" "0000293556" "00015847" "10" "2022" "0" "2022" "0" "c.2022C>T" "r.(?)" "p.(Ala674=)" "" "0000293557" "00015847" "10" "2028" "0" "2028" "0" "c.2028C>T" "r.(?)" "p.(Ala676=)" "" "0000293558" "00015847" "70" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Pro71Leu)" "" "0000293559" "00015847" "10" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Glu92=)" "" "0000293560" "00015847" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Cys)" "" "0000293561" "00015847" "10" "207" "209" "207" "209" "c.207+209C>T" "r.(=)" "p.(=)" "" "0000293562" "00015847" "10" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Leu112=)" "" "0000293563" "00015847" "10" "360" "0" "360" "0" "c.360T>C" "r.(?)" "p.(Pro120=)" "" "0000293564" "00015847" "10" "384" "0" "384" "0" "c.384C>T" "r.(?)" "p.(Gly128=)" "" "0000293565" "00015847" "30" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Leu133=)" "" "0000293566" "00015847" "10" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Ile143=)" "" "0000293567" "00015847" "30" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Arg160Gln)" "" "0000293568" "00015847" "30" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Arg165Gln)" "" "0000293569" "00015847" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Pro174=)" "" "0000293570" "00015847" "10" "524" "-11" "524" "-11" "c.524-11G>A" "r.(=)" "p.(=)" "" "0000293572" "00015847" "30" "609" "0" "609" "0" "c.609C>T" "r.(?)" "p.(Thr203=)" "" "0000293573" "00015847" "10" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.(Phe205=)" "" "0000293574" "00015847" "10" "627" "0" "627" "0" "c.627C>T" "r.(?)" "p.(Pro209=)" "" "0000293576" "00015847" "10" "657" "9" "657" "9" "c.657+9G>A" "r.(=)" "p.(=)" "" "0000293577" "00015847" "10" "658" "-7" "658" "-7" "c.658-7C>T" "r.(=)" "p.(=)" "" "0000293578" "00015847" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Ala220Thr)" "" "0000293579" "00015847" "10" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Ser235=)" "" "0000293580" "00015847" "50" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "" "0000293581" "00015847" "10" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Gly240=)" "" "0000293582" "00015847" "10" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Arg251=)" "" "0000293583" "00015847" "30" "800" "-4" "800" "-4" "c.800-4C>T" "r.spl?" "p.?" "" "0000293584" "00015847" "50" "847" "0" "847" "0" "c.847C>A" "r.(?)" "p.(Leu283Met)" "" "0000293585" "00015847" "70" "883" "0" "883" "0" "c.883C>A" "r.(?)" "p.(Arg295Ser)" "" "0000293586" "00015847" "10" "984" "0" "984" "0" "c.984C>T" "r.(?)" "p.(Ala328=)" "" "0000293587" "00015847" "30" "993" "0" "993" "0" "c.993C>T" "r.(?)" "p.(Pro331=)" "" "0000293588" "00015847" "10" "996" "55" "996" "61" "c.996+55_996+61del" "r.(=)" "p.(=)" "" "0000296827" "00015847" "50" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Asp374Asn)" "" "0000296828" "00015847" "30" "140" "0" "140" "0" "c.140C>G" "r.(?)" "p.(Ser47Cys)" "" "0000296829" "00015847" "10" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Ser47=)" "" "0000296830" "00015847" "10" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Val474Ile)" "" "0000296832" "00015847" "10" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ala53Val)" "" "0000296833" "00015847" "10" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Gly670Glu)" "" "0000296834" "00015847" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Glu92=)" "" "0000296835" "00015847" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "" "0000296836" "00015847" "10" "524" "-11" "524" "-11" "c.524-11G>A" "r.(=)" "p.(=)" "" "0000296837" "00015847" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Asp175=)" "" "0000296839" "00015847" "10" "657" "9" "657" "9" "c.657+9G>A" "r.(=)" "p.(=)" "" "0000296840" "00015847" "10" "658" "-36" "658" "-36" "c.658-36G>A" "r.(=)" "p.(=)" "" "0000296841" "00015847" "10" "658" "-7" "658" "-7" "c.658-7C>T" "r.(=)" "p.(=)" "" "0000296842" "00015847" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Gly240=)" "" "0000296843" "00015847" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Arg251=)" "" "0000300679" "00015847" "10" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ala53Val)" "" "0000305309" "00015847" "30" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(His597=)" "" "0000405877" "00015847" "70" "1496" "0" "1496" "0" "c.1496G>A" "r.(?)" "p.(Arg499His)" "" "0000507860" "00015847" "10" "-861" "0" "-861" "0" "c.-861G>A" "r.(?)" "p.(=)" "" "0000507861" "00015847" "30" "-287" "0" "-287" "0" "c.-287G>A" "r.(?)" "p.(=)" "" "0000507862" "00015847" "10" "-64" "0" "-64" "0" "c.-64C>T" "r.(?)" "p.(=)" "" "0000507863" "00015847" "50" "-11" "0" "-11" "0" "c.-11C>T" "r.(?)" "p.(=)" "" "0000507864" "00015847" "50" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Val4Ile)" "" "0000507865" "00015847" "30" "41" "0" "49" "0" "c.41_49del" "r.(?)" "p.(Pro14_Leu16del)" "" "0000507866" "00015847" "30" "57" "0" "65" "0" "c.57_65del" "r.(?)" "p.(Leu21_Leu23del)" "" "0000507867" "00015847" "10" "60" "0" "65" "0" "c.60_65dup" "r.(?)" "p.(Leu22_Leu23dup)" "" "0000507868" "00015847" "10" "63" "0" "65" "0" "c.63_65del" "r.(?)" "p.(Leu23del)" "" "0000507869" "00015847" "10" "63" "0" "65" "0" "c.63_65dup" "r.(?)" "p.(Leu23dup)" "" "0000507870" "00015847" "10" "63" "0" "65" "0" "c.63_65dup" "r.(?)" "p.(Leu23dup)" "" "0000507871" "00015847" "10" "63" "0" "65" "0" "c.63_65dup" "r.(?)" "p.(Leu23dup)" "" "0000507872" "00015847" "10" "66" "0" "66" "0" "c.66C>T" "r.(?)" "p.(Leu22=)" "" "0000507873" "00015847" "90" "94" "0" "94" "0" "c.94G>A" "r.(?)" "p.(Glu32Lys)" "" "0000507874" "00015847" "50" "101" "0" "106" "0" "c.101_106dup" "r.(?)" "p.(Glu34_Asp35dup)" "" "0000507875" "00015847" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Glu54Lys)" "" "0000507876" "00015847" "50" "207" "5" "207" "5" "c.207+5G>A" "r.spl?" "p.?" "" "0000507877" "00015847" "10" "207" "15" "207" "15" "c.207+15A>G" "r.(=)" "p.(=)" "" "0000507878" "00015847" "10" "207" "15" "207" "15" "c.207+15A>G" "r.(=)" "p.(=)" "" "0000507879" "00015847" "10" "207" "144" "207" "144" "c.207+144G>A" "r.(=)" "p.(=)" "" "0000507880" "00015847" "10" "208" "-399" "208" "-399" "c.208-399C>T" "r.(=)" "p.(=)" "" "0000507881" "00015847" "30" "208" "-303" "208" "-303" "c.208-303G>C" "r.(=)" "p.(=)" "" "0000507882" "00015847" "10" "208" "-161" "208" "-161" "c.208-161C>T" "r.(=)" "p.(=)" "" "0000507883" "00015847" "10" "225" "0" "225" "0" "c.225T>C" "r.(?)" "p.(Pro75=)" "" "0000507884" "00015847" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Tyr78=)" "" "0000507885" "00015847" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "" "0000507886" "00015847" "10" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Arg96=)" "" "0000507887" "00015847" "50" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Arg104His)" "" "0000507888" "00015847" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" "" "0000507889" "00015847" "90" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Val114Ala)" "" "0000507890" "00015847" "90" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Asp129Asn)" "" "0000507891" "00015847" "10" "399" "165" "399" "165" "c.399+165T>C" "r.(=)" "p.(=)" "" "0000507892" "00015847" "10" "399" "193" "399" "193" "c.399+193C>T" "r.(=)" "p.(=)" "" "0000507893" "00015847" "10" "399" "232" "399" "232" "c.399+232T>C" "r.(=)" "p.(=)" "" "0000507894" "00015847" "10" "400" "-201" "400" "-201" "c.400-201A>G" "r.(=)" "p.(=)" "" "0000507895" "00015847" "10" "400" "-178" "400" "-178" "c.400-178A>T" "r.(=)" "p.(=)" "" "0000507896" "00015847" "30" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(Val140=)" "" "0000507897" "00015847" "50" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "" "0000507898" "00015847" "30" "507" "0" "507" "0" "c.507T>C" "r.(?)" "p.(Asp169=)" "" "0000507899" "00015847" "10" "523" "230" "523" "230" "c.523+230T>C" "r.(=)" "p.(=)" "" "0000507900" "00015847" "10" "524" "-90" "524" "-90" "c.524-90C>G" "r.(=)" "p.(=)" "" "0000507901" "00015847" "30" "524" "-68" "524" "-68" "c.524-68C>G" "r.(=)" "p.(=)" "" "0000507902" "00015847" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Asp175=)" "" "0000507903" "00015847" "50" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Gly177Asp)" "" "0000507904" "00015847" "70" "643" "0" "643" "0" "c.643C>A" "r.(?)" "p.(Arg215Ser)" "" "0000507905" "00015847" "70" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Arg215His)" "" "0000507906" "00015847" "30" "657" "76" "657" "76" "c.657+76C>A" "r.(=)" "p.(=)" "" "0000507907" "00015847" "30" "657" "82" "657" "82" "c.657+82G>A" "r.(=)" "p.(=)" "" "0000507908" "00015847" "30" "657" "114" "657" "114" "c.657+114C>A" "r.(=)" "p.(=)" "" "0000507909" "00015847" "30" "657" "114" "657" "114" "c.657+114del" "r.(=)" "p.(=)" "" "0000507910" "00015847" "10" "657" "114" "657" "114" "c.657+114dup" "r.(=)" "p.(=)" "" "0000507911" "00015847" "30" "658" "-36" "658" "-36" "c.658-36G>A" "r.(=)" "p.(=)" "" "0000507912" "00015847" "90" "658" "-6" "658" "-6" "c.658-6G>T" "r.(=)" "p.(=)" "" "0000507913" "00015847" "50" "670" "0" "670" "0" "c.670G>C" "r.(?)" "p.(Asp224His)" "" "0000507914" "00015847" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Ala239=)" "" "0000507915" "00015847" "30" "780" "0" "780" "0" "c.780G>A" "r.(?)" "p.(Thr260=)" "" "0000507916" "00015847" "30" "799" "64" "799" "64" "c.799+64C>A" "r.(=)" "p.(=)" "" "0000507917" "00015847" "30" "799" "158" "799" "158" "c.799+158T>C" "r.(=)" "p.(=)" "" "0000507918" "00015847" "10" "799" "218" "799" "218" "c.799+218C>T" "r.(=)" "p.(=)" "" "0000507919" "00015847" "10" "799" "288" "799" "288" "c.799+288C>T" "r.(=)" "p.(=)" "" "0000507920" "00015847" "10" "799" "364" "799" "364" "c.799+364A>G" "r.(=)" "p.(=)" "" "0000507921" "00015847" "10" "799" "551" "799" "551" "c.799+551G>T" "r.(=)" "p.(=)" "" "0000507922" "00015847" "30" "800" "-563" "800" "-563" "c.800-563G>T" "r.(=)" "p.(=)" "" "0000507923" "00015847" "10" "800" "-557" "800" "-557" "c.800-557G>A" "r.(=)" "p.(=)" "" "0000507924" "00015847" "10" "800" "-471" "800" "-471" "c.800-471C>T" "r.(=)" "p.(=)" "" "0000507925" "00015847" "10" "800" "-424" "800" "-424" "c.800-424T>G" "r.(=)" "p.(=)" "" "0000507926" "00015847" "10" "800" "-353" "800" "-353" "c.800-353G>T" "r.(=)" "p.(=)" "" "0000507927" "00015847" "10" "800" "-314" "800" "-314" "c.800-314C>T" "r.(=)" "p.(=)" "" "0000507928" "00015847" "10" "807" "0" "807" "0" "c.807G>A" "r.(?)" "p.(Glu269=)" "" "0000507929" "00015847" "50" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Val277Leu)" "" "0000507930" "00015847" "30" "835" "0" "835" "0" "c.835C>A" "r.(?)" "p.(Pro279Thr)" "" "0000507931" "00015847" "30" "839" "0" "839" "0" "c.839T>C" "r.(?)" "p.(Val280Ala)" "" "0000507932" "00015847" "50" "847" "0" "847" "0" "c.847C>A" "r.(?)" "p.(Leu283Met)" "" "0000507933" "00015847" "10" "996" "44" "996" "44" "c.996+44del" "r.(=)" "p.(=)" "" "0000507934" "00015847" "10" "996" "48" "996" "53" "c.996+48_996+53del" "r.(=)" "p.(=)" "" "0000507935" "00015847" "30" "996" "221" "996" "221" "c.996+221A>C" "r.(=)" "p.(=)" "" "0000507936" "00015847" "10" "996" "279" "996" "279" "c.996+279A>G" "r.(=)" "p.(=)" "" "0000507937" "00015847" "10" "997" "-446" "997" "-446" "c.997-446G>T" "r.(=)" "p.(=)" "" "0000507938" "00015847" "10" "997" "-391" "997" "-391" "c.997-391del" "r.(=)" "p.(=)" "" "0000507939" "00015847" "10" "997" "-262" "997" "-261" "c.997-262_997-261insGGTC" "r.(=)" "p.(=)" "" "0000507940" "00015847" "30" "997" "-261" "997" "-260" "c.997-261_997-260insGTCT" "r.(=)" "p.(=)" "" "0000507941" "00015847" "50" "1099" "0" "1099" "0" "c.1099G>C" "r.(?)" "p.(Asp367His)" "" "0000507942" "00015847" "50" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Gly394Ser)" "" "0000507943" "00015847" "10" "1180" "174" "1180" "174" "c.1180+174A>G" "r.(=)" "p.(=)" "" "0000507944" "00015847" "10" "1181" "-226" "1181" "-226" "c.1181-226C>T" "r.(=)" "p.(=)" "" "0000507945" "00015847" "50" "1211" "0" "1211" "0" "c.1211C>T" "r.(?)" "p.(Pro404Leu)" "" "0000507946" "00015847" "30" "1227" "0" "1227" "0" "c.1227C>T" "r.(?)" "p.(Ala409=)" "" "0000507947" "00015847" "50" "1274" "0" "1274" "0" "c.1274A>G" "r.(?)" "p.(Asn425Ser)" "" "0000507948" "00015847" "30" "1350" "0" "1350" "0" "c.1350G>T" "r.(?)" "p.(Gly450=)" "" "0000507949" "00015847" "50" "1353" "0" "1353" "0" "c.1353A>C" "r.(?)" "p.(Ala451=)" "" "0000507950" "00015847" "30" "1354" "9" "1354" "9" "c.1354+9G>T" "r.(=)" "p.(=)" "" "0000507951" "00015847" "10" "1354" "102" "1354" "102" "c.1354+102C>T" "r.(=)" "p.(=)" "" "0000507952" "00015847" "10" "1355" "-56" "1355" "-56" "c.1355-56C>T" "r.(=)" "p.(=)" "" "0000507953" "00015847" "70" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Ile)" "" "0000507954" "00015847" "70" "1399" "0" "1399" "0" "c.1399C>G" "r.(?)" "p.(Pro467Ala)" "" "0000507955" "00015847" "50" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Arg469Gln)" "" "0000507956" "00015847" "50" "1487" "0" "1487" "0" "c.1487G>A" "r.(?)" "p.(Arg496Gln)" "" "0000507957" "00015847" "10" "1503" "46" "1503" "71" "c.1503+46_1503+71del" "r.(=)" "p.(=)" "" "0000507958" "00015847" "10" "1503" "52" "1503" "71" "c.1503+52_1503+71del" "r.(=)" "p.(=)" "" "0000507959" "00015847" "10" "1503" "67" "1503" "67" "c.1503+67T>C" "r.(=)" "p.(=)" "" "0000507960" "00015847" "10" "1503" "68" "1503" "71" "c.1503+68_1503+71dup" "r.(=)" "p.(=)" "" "0000507961" "00015847" "30" "1503" "70" "1503" "71" "c.1503+70_1503+71dup" "r.(=)" "p.(=)" "" "0000507962" "00015847" "30" "1503" "70" "1503" "71" "c.1503+70_1503+71dup" "r.(=)" "p.(=)" "" "0000507963" "00015847" "10" "1503" "281" "1503" "281" "c.1503+281G>A" "r.(=)" "p.(=)" "" "0000507964" "00015847" "10" "1504" "-343" "1504" "-343" "c.1504-343G>A" "r.(=)" "p.(=)" "" "0000507965" "00015847" "10" "1504" "-317" "1504" "-317" "c.1504-317G>A" "r.(=)" "p.(=)" "" "0000507966" "00015847" "30" "1504" "-178" "1504" "-178" "c.1504-178C>T" "r.(=)" "p.(=)" "" "0000507967" "00015847" "10" "1504" "-16" "1504" "-16" "c.1504-16C>T" "r.(=)" "p.(=)" "" "0000507968" "00015847" "30" "1504" "-15" "1504" "-15" "c.1504-15G>A" "r.(=)" "p.(=)" "" "0000507969" "00015847" "70" "1547" "0" "1547" "0" "c.1547G>T" "r.(?)" "p.(Gly516Val)" "" "0000507970" "00015847" "30" "1681" "63" "1681" "63" "c.1681+63C>T" "r.(=)" "p.(=)" "" "0000507971" "00015847" "10" "1681" "64" "1681" "64" "c.1681+64G>A" "r.(=)" "p.(=)" "" "0000507972" "00015847" "10" "1681" "386" "1681" "386" "c.1681+386G>A" "r.(=)" "p.(=)" "" "0000507973" "00015847" "10" "1681" "390" "1681" "390" "c.1681+390T>G" "r.(=)" "p.(=)" "" "0000507974" "00015847" "10" "1682" "-363" "1682" "-363" "c.1682-363G>A" "r.(=)" "p.(=)" "" "0000507975" "00015847" "30" "1767" "0" "1767" "0" "c.1767G>T" "r.(?)" "p.(Val589=)" "" "0000507976" "00015847" "30" "1773" "0" "1773" "0" "c.1773C>G" "r.(?)" "p.(His591Gln)" "" "0000507977" "00015847" "10" "1863" "94" "1863" "94" "c.1863+94G>A" "r.(=)" "p.(=)" "" "0000507978" "00015847" "10" "1863" "250" "1863" "250" "c.1863+250A>G" "r.(=)" "p.(=)" "" "0000507979" "00015847" "30" "1864" "-235" "1864" "-235" "c.1864-235G>C" "r.(=)" "p.(=)" "" "0000507980" "00015847" "30" "1864" "-13" "1864" "-13" "c.1864-13C>T" "r.(=)" "p.(=)" "" "0000507981" "00015847" "50" "1915" "0" "1915" "0" "c.1915C>G" "r.(?)" "p.(Pro639Ala)" "" "0000507982" "00015847" "50" "1922" "0" "1922" "0" "c.1922C>T" "r.(?)" "p.(Thr641Ile)" "" "0000507983" "00015847" "30" "1980" "0" "1980" "0" "c.1980C>T" "r.(?)" "p.(Asp660=)" "" "0000507984" "00015847" "90" "2037" "0" "2037" "0" "c.2037C>A" "r.(?)" "p.(Cys679Ter)" "" "0000507985" "00015847" "50" "2050" "0" "2050" "0" "c.2050C>G" "r.(?)" "p.(Leu684Val)" "" "0000605834" "00015847" "10" "27" "0" "27" "0" "c.27C>T" "r.(?)" "p.(Ser9=)" "" "0000605835" "00015847" "30" "45" "0" "45" "0" "c.45G>A" "r.(?)" "p.(Leu15=)" "" "0000605836" "00015847" "50" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Cys)" "" "0000605837" "00015847" "30" "207" "386" "207" "386" "c.207+386C>G" "r.(=)" "p.(=)" "" "0000605838" "00015847" "30" "399" "10" "399" "10" "c.399+10C>T" "r.(=)" "p.(=)" "" "0000605839" "00015847" "30" "400" "-18" "400" "-18" "c.400-18C>A" "r.(=)" "p.(=)" "" "0000605840" "00015847" "30" "799" "26" "799" "26" "c.799+26C>T" "r.(=)" "p.(=)" "" "0000605841" "00015847" "10" "799" "710" "799" "710" "c.799+710G>A" "r.(=)" "p.(=)" "" "0000605842" "00015847" "10" "996" "8" "996" "8" "c.996+8del" "r.(=)" "p.(=)" "" "0000605843" "00015847" "30" "996" "41" "996" "41" "c.996+41C>T" "r.(=)" "p.(=)" "" "0000605844" "00015847" "30" "996" "42" "996" "42" "c.996+42G>A" "r.(=)" "p.(=)" "" "0000605845" "00015847" "30" "996" "44" "996" "44" "c.996+44A>G" "r.(=)" "p.(=)" "" "0000605846" "00015847" "30" "996" "254" "996" "254" "c.996+254G>C" "r.(=)" "p.(=)" "" "0000605847" "00015847" "10" "997" "-392" "997" "-392" "c.997-392del" "r.(=)" "p.(=)" "" "0000605848" "00015847" "10" "997" "-330" "997" "-330" "c.997-330C>T" "r.(=)" "p.(=)" "" "0000605849" "00015847" "50" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Arg357His)" "" "0000605850" "00015847" "50" "1171" "0" "1171" "0" "c.1171C>A" "r.(?)" "p.(His391Asn)" "" "0000605851" "00015847" "90" "1394" "0" "1394" "0" "c.1394C>T" "r.(?)" "p.(Ser465Leu)" "" "0000605852" "00015847" "50" "1503" "0" "1503" "0" "c.1503G>A" "r.(?)" "p.(Glu501=)" "" "0000605853" "00015847" "50" "1646" "0" "1646" "0" "c.1646G>A" "r.(?)" "p.(Arg549His)" "" "0000605854" "00015847" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Ala598Thr)" "" "0000605855" "00015847" "10" "1864" "-413" "1864" "-413" "c.1864-413G>A" "r.(=)" "p.(=)" "" "0000605856" "00015847" "30" "1864" "-16" "1864" "-16" "c.1864-16C>T" "r.(=)" "p.(=)" "" "0000605857" "00015847" "30" "1914" "0" "1914" "0" "c.1914C>G" "r.(?)" "p.(Leu638=)" "" "0000605858" "00015847" "50" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Arg680Trp)" "" "0000620662" "00015847" "30" "-245" "0" "-245" "0" "c.-245G>C" "r.(?)" "p.(=)" "" "0000620663" "00015847" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "" "0000620664" "00015847" "30" "207" "87" "207" "87" "c.207+87T>A" "r.(=)" "p.(=)" "" "0000620665" "00015847" "30" "399" "308" "399" "308" "c.399+308C>T" "r.(=)" "p.(=)" "" "0000620666" "00015847" "50" "697" "0" "697" "0" "c.697G>T" "r.(?)" "p.(Val233Leu)" "" "0000620667" "00015847" "50" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Asp374Asn)" "" "0000620668" "00015847" "10" "1503" "48" "1503" "71" "c.1503+48_1503+71del" "r.(=)" "p.(=)" "" "0000620669" "00015847" "30" "1504" "-14" "1504" "-14" "c.1504-14T>C" "r.(=)" "p.(=)" "" "0000620670" "00015847" "30" "1681" "410" "1681" "410" "c.1681+410A>C" "r.(=)" "p.(=)" "" "0000620671" "00015847" "10" "1682" "-208" "1682" "-208" "c.1682-208C>G" "r.(=)" "p.(=)" "" "0000620672" "00015847" "50" "2002" "0" "2002" "0" "c.2002A>G" "r.(?)" "p.(Ser668Gly)" "" "0000647742" "00015847" "30" "137" "0" "137" "0" "c.137G>T" "r.(?)" "p.(Arg46Leu)" "" "0000647743" "00015847" "70" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Asp204Asn)" "" "0000654068" "00015847" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Glu132Lys)" "" "0000654069" "00015847" "30" "400" "-568" "400" "-568" "c.400-568dup" "r.(=)" "p.(=)" "" "0000654070" "00015847" "70" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Trp)" "" "0000654071" "00015847" "30" "996" "563" "996" "563" "c.996+563G>A" "r.(=)" "p.(=)" "" "0000654072" "00015847" "50" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Thr468Ala)" "" "0000654073" "00015847" "10" "1681" "532" "1681" "532" "c.1681+532C>T" "r.(=)" "p.(=)" "" "0000654074" "00015847" "30" "1929" "0" "1929" "0" "c.1929C>T" "r.(?)" "p.(His643=)" "" "0000675885" "00015847" "50" "-331" "0" "-331" "0" "c.-331C>A" "r.(?)" "p.(=)" "" "0000675886" "00015847" "30" "524" "-12" "524" "-12" "c.524-12C>T" "r.(=)" "p.(=)" "" "0000675887" "00015847" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" "" "0000675888" "00015847" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Asp212=)" "" "0000675889" "00015847" "30" "800" "-432" "800" "-432" "c.800-432C>A" "r.(=)" "p.(=)" "" "0000675890" "00015847" "30" "942" "0" "942" "0" "c.942T>C" "r.(?)" "p.(Ala314=)" "" "0000675891" "00015847" "30" "1305" "0" "1305" "0" "c.1305A>C" "r.(?)" "p.(Val435=)" "" "0000675892" "00015847" "50" "1835" "0" "1835" "0" "c.1835A>G" "r.(?)" "p.(Glu612Gly)" "" "0000688206" "00015847" "50" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Pro12Leu)" "" "0000688207" "00015847" "50" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Ser89Leu)" "" "0000688208" "00015847" "50" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Arg96Cys)" "" "0000688209" "00015847" "30" "1354" "12" "1354" "12" "c.1354+12G>A" "r.(=)" "p.(=)" "" "0000717557" "00015847" "50" "147" "0" "147" "0" "c.147G>C" "r.(?)" "p.(Glu49Asp)" "" "0000717558" "00015847" "10" "523" "1839" "523" "1839" "c.523+1839G>T" "r.(=)" "p.(=)" "" "0000717559" "00015847" "30" "799" "20" "799" "20" "c.799+20G>A" "r.(=)" "p.(=)" "" "0000717560" "00015847" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Gly497=)" "" "0000717561" "00015847" "30" "1503" "42" "1503" "71" "c.1503+42_1503+71del" "r.(=)" "p.(=)" "" "0000717562" "00015847" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Ala617=)" "" "0000717563" "00015847" "50" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Asp660Asn)" "" "0000799425" "00015847" "30" "174" "0" "174" "0" "c.174C>T" "r.(?)" "p.(His58=)" "" "0000799426" "00015847" "30" "198" "0" "198" "0" "c.198C>T" "r.(?)" "p.(Arg66=)" "" "0000799427" "00015847" "50" "208" "-7" "208" "-7" "c.208-7G>A" "r.(=)" "p.(=)" "" "0000799428" "00015847" "50" "502" "0" "502" "0" "c.502G>A" "r.(?)" "p.(Ala168Thr)" "" "0000799429" "00015847" "30" "523" "19" "523" "19" "c.523+19C>T" "r.(=)" "p.(=)" "" "0000799430" "00015847" "30" "657" "7" "657" "7" "c.657+7A>C" "r.(=)" "p.(=)" "" "0000799431" "00015847" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Thr313=)" "" "0000799432" "00015847" "50" "1098" "0" "1098" "0" "c.1098G>C" "r.(?)" "p.(Glu366Asp)" "" "0000799433" "00015847" "50" "1251" "0" "1251" "0" "c.1251C>A" "r.(?)" "p.(His417Gln)" "" "0000799434" "00015847" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Asp432Asn)" "" "0000799435" "00015847" "30" "1503" "331" "1503" "331" "c.1503+331A>G" "r.(=)" "p.(=)" "" "0000799436" "00015847" "50" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Val589Met)" "" "0000799437" "00015847" "30" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Thr653=)" "" "0000799438" "00015847" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Val661Ile)" "" "0000799439" "00015847" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Val675Ile)" "" "0000847946" "00015847" "50" "996" "60" "996" "60" "c.996+60G>A" "r.(?)" "p.(?)" "" "0000848767" "00015847" "30" "399" "10" "399" "10" "c.399+10C>G" "r.(=)" "p.(=)" "" "0000848768" "00015847" "30" "657" "12" "657" "12" "c.657+12C>T" "r.(=)" "p.(=)" "" "0000848769" "00015847" "50" "666" "0" "666" "0" "c.666G>C" "r.(?)" "p.(Lys222Asn)" "" "0000848770" "00015847" "30" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Gly240=)" "" "0000848771" "00015847" "50" "747" "0" "747" "0" "c.747C>A" "r.(?)" "p.(Ser249Arg)" "" "0000848772" "00015847" "30" "1173" "0" "1173" "0" "c.1173C>T" "r.(?)" "p.(His391=)" "" "0000848773" "00015847" "10" "1503" "62" "1503" "71" "c.1503+62_1503+71dup" "r.(=)" "p.(=)" "" "0000848774" "00015847" "50" "1660" "0" "1660" "0" "c.1660C>G" "r.(?)" "p.(Gln554Glu)" "" "0000848775" "00015847" "30" "1863" "20" "1863" "20" "c.1863+20C>T" "r.(=)" "p.(=)" "" "0000848776" "00015847" "30" "1864" "-14" "1864" "-14" "c.1864-14T>C" "r.(=)" "p.(=)" "" "0000848777" "00015847" "50" "1979" "0" "1979" "0" "c.1979A>C" "r.(?)" "p.(Asp660Ala)" "" "0000857537" "00015847" "50" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "" "0000857538" "00015847" "30" "523" "20" "523" "20" "c.523+20C>T" "r.(=)" "p.(=)" "" "0000857539" "00015847" "50" "752" "0" "752" "0" "c.752G>A" "r.(?)" "p.(Arg251His)" "" "0000857540" "00015847" "50" "757" "0" "757" "0" "c.757C>T" "r.(?)" "p.(Leu253Phe)" "" "0000857541" "00015847" "50" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Gln344Arg)" "" "0000857542" "00015847" "50" "1606" "0" "1606" "0" "c.1606G>A" "r.(?)" "p.(Val536Ile)" "" "0000857543" "00015847" "50" "1727" "0" "1727" "0" "c.1727C>T" "r.(?)" "p.(Pro576Leu)" "" "0000857544" "00015847" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Pro576=)" "" "0000857545" "00015847" "50" "1850" "0" "1850" "0" "c.1850C>A" "r.(?)" "p.(Ala617Asp)" "" "0000857546" "00015847" "30" "1947" "0" "1947" "0" "c.1947C>T" "r.(?)" "p.(Ala649=)" "" "0000857547" "00015847" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Ala671=)" "" "0000883502" "00015847" "50" "192" "0" "192" "0" "c.192C>A" "r.(?)" "p.(Phe64Leu)" "" "0000883503" "00015847" "50" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Arg66His)" "" "0000883504" "00015847" "30" "198" "0" "198" "0" "c.198C>A" "r.(?)" "p.(Arg66=)" "" "0000883505" "00015847" "30" "208" "-14" "208" "-14" "c.208-14T>G" "r.(=)" "p.(=)" "" "0000883506" "00015847" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97His)" "" "0000883507" "00015847" "50" "401" "0" "401" "0" "c.401C>A" "r.(?)" "p.(Ala134Asp)" "" "0000883508" "00015847" "50" "520" "0" "520" "0" "c.520C>T" "r.(?)" "p.(Pro174Ser)" "" "0000883509" "00015847" "50" "529" "0" "529" "0" "c.529G>T" "r.(?)" "p.(Gly177Cys)" "" "0000883510" "00015847" "30" "658" "-9" "658" "-9" "c.658-9G>A" "r.(=)" "p.(=)" "" "0000883511" "00015847" "50" "800" "-10" "800" "-10" "c.800-10T>C" "r.(=)" "p.(=)" "" "0000883512" "00015847" "30" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Ala305Val)" "" "0000883513" "00015847" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Asp321Asn)" "" "0000883514" "00015847" "30" "1023" "0" "1023" "0" "c.1023C>T" "r.(?)" "p.(Ala341=)" "" "0000883515" "00015847" "50" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Gly466Glu)" "" "0000883516" "00015847" "30" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(Val474=)" "" "0000883517" "00015847" "70" "1545" "0" "1545" "0" "c.1545dup" "r.(?)" "p.(Gly516Trpfs*3)" "" "0000883518" "00015847" "50" "1816" "0" "1816" "0" "c.1816C>G" "r.(?)" "p.(Leu606Val)" "" "0000883519" "00015847" "30" "1863" "13" "1863" "13" "c.1863+13G>A" "r.(=)" "p.(=)" "" "0000883520" "00015847" "30" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(Cys626=)" "" "0000883521" "00015847" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Val644Ile)" "" "0000911092" "00015847" "50" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Ala100Thr)" "" "0000911093" "00015847" "30" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.(Glu132=)" "" "0000911094" "00015847" "50" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Gly240Ser)" "" "0000911095" "00015847" "30" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Ala305=)" "" "0000911096" "00015847" "30" "997" "-17" "997" "-17" "c.997-17C>T" "r.(=)" "p.(=)" "" "0000911097" "00015847" "30" "1176" "0" "1176" "0" "c.1176G>T" "r.(?)" "p.(Val392=)" "" "0000911098" "00015847" "30" "1212" "0" "1212" "0" "c.1212G>A" "r.(?)" "p.(Pro404=)" "" "0000911099" "00015847" "50" "1548" "0" "1548" "0" "c.1548G>A" "r.(?)" "p.(Gly516=)" "" "0000911100" "00015847" "50" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659Trp)" "" "0000923208" "00015847" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Ala427=)" "" "0000923209" "00015847" "50" "1969" "0" "1969" "0" "c.1969A>G" "r.(?)" "p.(Arg657Gly)" "" "0000923210" "00015847" "30" "2034" "0" "2034" "0" "c.2034C>T" "r.(?)" "p.(Cys678=)" "" "0000923211" "00015847" "50" "2044" "0" "2044" "0" "c.2044C>T" "r.(?)" "p.(Arg682Trp)" "" "0000928185" "00015847" "30" "75" "0" "75" "0" "c.75C>T" "r.(?)" "p.(=)" "" "0000928186" "00015847" "50" "1228" "0" "1228" "0" "c.1228G>A" "r.(?)" "p.(Glu410Lys)" "" "0000928187" "00015847" "50" "1327" "0" "1327" "0" "c.1327G>T" "r.(?)" "p.(Ala443Ser)" "" "0000928188" "00015847" "50" "1402" "0" "1402" "0" "c.1402A>C" "r.(?)" "p.(Thr468Pro)" "" "0000928189" "00015847" "50" "1540" "0" "1540" "0" "c.1540G>C" "r.(?)" "p.(Ala514Pro)" "" "0000928190" "00015847" "50" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Gln689*)" "" "0000932977" "00015847" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Asp129Asn)" "" "0000947272" "00015847" "50" "274" "0" "274" "0" "c.274G>C" "r.(?)" "p.(Glu92Gln)" "" "0000947273" "00015847" "50" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Ala542Val)" "" "0000947274" "00015847" "30" "1682" "-20" "1682" "-20" "c.1682-20C>A" "r.(=)" "p.(=)" "" "0000952260" "00015847" "90" "1394" "0" "1394" "0" "c.1394C>T" "r.(?)" "p.(Ser465Leu)" "" "0000961097" "00015847" "30" "-245" "0" "-245" "0" "c.-245G>T" "r.(?)" "p.(=)" "" "0000961098" "00015847" "30" "208" "-243" "208" "-243" "c.208-243C>T" "r.(=)" "p.(=)" "" "0000961099" "00015847" "30" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Arg237Trp)" "" "0000961100" "00015847" "30" "831" "0" "831" "0" "c.831C>G" "r.(?)" "p.(=)" "" "0000961101" "00015847" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(=)" "" "0000961102" "00015847" "30" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(=)" "" "0000961103" "00015847" "10" "1355" "-56" "1355" "-56" "c.1355-56C>T" "r.(=)" "p.(=)" "" "0000961104" "00015847" "30" "1503" "66" "1503" "71" "c.1503+66_1503+71dup" "r.(=)" "p.(=)" "" "0000961105" "00015847" "30" "1682" "-332" "1682" "-332" "c.1682-332C>T" "r.(=)" "p.(=)" "" "0000974034" "00015847" "50" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Arg105Trp)" "" "0000974035" "00015847" "30" "465" "0" "465" "0" "c.465G>A" "r.(?)" "p.(=)" "" "0000974036" "00015847" "30" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(=)" "" "0000974037" "00015847" "30" "1944" "0" "1944" "0" "c.1944C>T" "r.(?)" "p.(=)" "" "0000991344" "00015847" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" "0000991345" "00015847" "30" "658" "-19" "658" "-19" "c.658-19C>G" "r.(=)" "p.(=)" "" "0000991346" "00015847" "50" "743" "0" "743" "0" "c.743G>A" "r.(?)" "p.(Arg248His)" "" "0000991347" "00015847" "50" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251Cys)" "" "0000991348" "00015847" "30" "1355" "-12" "1355" "-12" "c.1355-12C>T" "r.(=)" "p.(=)" "" "0000991349" "00015847" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(=)" "" "0000991350" "00015847" "30" "1863" "19" "1863" "19" "c.1863+19C>A" "r.(=)" "p.(=)" "" "0000991351" "00015847" "50" "1998" "0" "1998" "0" "c.1998C>A" "r.(?)" "p.(Ser666Arg)" "" "0001013332" "00015847" "30" "799" "12" "799" "12" "c.799+12C>A" "r.(=)" "p.(=)" "" "0001013333" "00015847" "30" "1181" "-12" "1181" "-12" "c.1181-12C>A" "r.(=)" "p.(=)" "" "0001013334" "00015847" "50" "1629" "0" "1629" "0" "c.1629G>T" "r.(?)" "p.(Glu543Asp)" "" "0001032127" "00015847" "30" "903" "0" "903" "0" "c.903C>T" "r.(?)" "p.(=)" "" "0001032128" "00015847" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000033841" "0000060682" "0000033843" "0000060684" "0000054705" "0000084676" "0000181876" "0000405877" "0000291053" "0000647742" "0000291054" "0000647743" "0000445342" "0000952260"