### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = LRP4) # 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}}" "LRP4" "low density lipoprotein receptor-related protein 4" "11" "p11.2" "unknown" "NG_021394.1" "UD_139312086496" "" "https://www.LOVD.nl/LRP4" "" "1" "6696" "4038" "604270" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/LRP4_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2010-06-01 00:00:00" "00006" "2018-02-09 15:50:39" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023984" "LRP4" "low density lipoprotein receptor-related protein 4" "001" "NM_002334.3" "" "NP_002325.2" "" "" "" "-243" "7984" "5718" "46918622" "46856717" "00006" "2014-11-21 11:29:38" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00954" "CLSS" "Cenani-Lenz syndactyly syndrome (CLSS)" "AR" "212780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00955" "SOST2" "sclerosteosis, type 2 (SOST-2)" "AD;AR" "614305" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04563" "CMS17" "myasthenic syndrome?, congenital, type 17 (CMS-17)" "AR" "616304" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05234" "CM1" "malformation, Chiari, type I (CM-1)" "" "118420" "" "" "" "00006" "2017-03-06 20:17:57" "00006" "2021-12-10 21:51:32" "05307" "SOST" "sclerosteosis (SOST)" "" "" "" "" "" "00006" "2017-07-17 08:40:58" "00006" "2017-07-17 08:41:46" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "LRP4" "00954" "LRP4" "00955" "LRP4" "04563" "LRP4" "05307" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00095098" "" "" "" "1" "" "01586" "" "" "" "no" "" "" "0" "" "" "" "" "00100647" "" "" "" "2" "" "01926" "" "" "M" "no" "(Italy)" "" "0" "yes" "surgery of cranial posterior fossa" "white" "@DRN" "00152943" "" "" "" "1" "" "00006" "{PMID:Simon-Chazottes 2006:16517118}" "dan mouse" "" "" "" "" "0" "" "" "" "" "00152944" "" "" "" "1" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00152945" "" "" "" "1" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00152946" "" "" "" "3" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Egypt" "" "0" "" "" "" "" "00152947" "" "" "" "3" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Egypt" "" "0" "" "" "" "" "00152948" "" "" "" "1" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00152949" "" "" "" "2" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00152950" "" "" "" "1" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Pakistan" "" "0" "" "" "" "" "00152951" "" "" "" "6" "" "00006" "{PMID:Li 2010:20381006}" "large family" "" "yes" "Jordan" "" "0" "" "" "" "" "00152952" "" "" "" "2" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00152953" "" "" "" "2" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Turkey" "" "0" "" "" "" "" "00152954" "" "" "" "1" "" "00006" "{PMID:Li 2010:20381006}" "" "" "" "Turkey" "" "0" "" "" "" "" "00152955" "" "" "" "1" "" "00006" "{PMID:Li 2010:20381006}" "" "" "yes" "Egypt" "" "0" "" "" "" "" "00152956" "" "" "" "1" "" "00006" "{PMID:Simon-Chazottes 2006:16517118}" "mdig mouse" "" "" "" "" "0" "" "" "" "" "00152957" "" "" "" "1" "" "00006" "{PMID:Johnson 2006:16963222}" "MF breed" "" "" "" "" "0" "" "" "" "" "00152958" "" "" "" "1" "" "00006" "{PMID:Duchesne 2006:16859890}" "Holstein cattle" "" "" "" "" "0" "" "" "" "" "00152959" "" "" "" "1" "" "02387" "" "" "F" "no" "" "" "0" "" "" "" "" "00208845" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00290402" "" "" "" "80" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290403" "" "" "" "67" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290404" "" "" "" "99" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304307" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304308" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00426133" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "38MS14400" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00095098" "00954" "00100647" "05234" "00152943" "00198" "00152944" "00954" "00152945" "00954" "00152946" "00954" "00152947" "00954" "00152948" "00954" "00152949" "00954" "00152950" "00954" "00152951" "00954" "00152952" "00954" "00152953" "00954" "00152954" "00954" "00152955" "00954" "00152956" "00198" "00152957" "00198" "00152958" "00198" "00152959" "00198" "00290402" "00198" "00290403" "00198" "00290404" "00198" "00304307" "00198" "00304308" "00198" "00426133" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00954, 00955, 04563, 05234, 05307 ## Count = 21 "{{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}}" "0000073492" "00954" "00095098" "01586" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078875" "05234" "00100647" "01926" "Familial, autosomal dominant" "12y" "hypertelorism, prominent head, epicanthus, clinodactyly, psycho-motor delay" "12y" "" "" "" "" "" "" "" "" "" "" "0000125677" "00198" "00152943" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "polysyndactyly" "" "0000125678" "00954" "00152944" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125679" "00954" "00152945" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125680" "00954" "00152946" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125681" "00954" "00152947" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125682" "00954" "00152948" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125683" "00954" "00152949" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125684" "00954" "00152950" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125685" "00954" "00152951" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125686" "00954" "00152952" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125687" "00954" "00152953" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125688" "00954" "00152954" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125689" "00954" "00152955" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndrome, Cenani-Lenz syndactyly" "" "0000125690" "00198" "00152956" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "polysyndactyly" "" "0000125691" "00198" "00152957" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Mulefoot disease" "" "0000125692" "00198" "00152958" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CLSS" "syndactyly" "" "0000125693" "00198" "00152959" "02387" "Familial, autosomal recessive" "" "A female with bilateral hand anomalies. syndactyly of the third and fourth fingers resulting in oligodactyly was found. Specifically, the bones of the proximal phalanges of the 3rd and 4th digits were fused with a single middle and distal phalanges and a single nail. Five metacarpals and five proximal phalanges were present in both hands. The third proximal phalanx of the right hand was small. The creases of the proximal, middle and distal phalanges were hypoplastic. The thumbs and index fingers were normal. The 5th digits had mild clinodactyly at the middle phalanx. The wrists and forearms were normal, as were both feet. At age 7 years, she was noted two missing upper canine teeth." "" "" "" "" "" "" "" "" "" "syndactyly, isolated" "" "0000157454" "00198" "00208845" "01164" "Unknown" "" "HP:0000544 (External ophthalmoplegia); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000317283" "00139" "00426133" "00006" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "?Myasthenic syndrome, congenital, 17" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000095497" "00095098" "1" "01586" "01586" "2017-01-06 12:14:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101064" "00100647" "1" "01926" "01926" "2017-03-07 16:57:27" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000153806" "00152943" "1" "00006" "00006" "2010-06-11 14:44:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000153807" "00152944" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153808" "00152945" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153809" "00152946" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153810" "00152947" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153811" "00152948" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153812" "00152949" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153813" "00152950" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153814" "00152951" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153815" "00152952" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153816" "00152953" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153817" "00152954" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000153818" "00152955" "1" "00006" "00006" "2010-06-11 13:01:58" "" "" "SEQ" "DNA" "" "" "0000153819" "00152956" "1" "00006" "00006" "2010-06-11 14:44:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000153820" "00152957" "1" "00006" "00006" "2010-06-11 14:44:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000153821" "00152958" "1" "00006" "00006" "2010-06-11 14:44:05" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000153822" "00152959" "1" "02387" "02387" "2018-02-04 17:37:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000209890" "00208845" "1" "01164" "01164" "2018-12-18 12:12:02" "" "" "SEQ-NG" "DNA" "" "" "0000291570" "00290402" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291571" "00290403" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291572" "00290404" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305436" "00304307" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305437" "00304308" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000427453" "00426133" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000101064" "LRP4" "0000153806" "LRP4" "0000153807" "LRP4" "0000153808" "LRP4" "0000153809" "LRP4" "0000153810" "LRP4" "0000153811" "LRP4" "0000153812" "LRP4" "0000153813" "LRP4" "0000153814" "LRP4" "0000153815" "LRP4" "0000153816" "LRP4" "0000153817" "LRP4" "0000153818" "LRP4" "0000153819" "LRP4" "0000153820" "LRP4" "0000153821" "LRP4" "0000153822" "LRP4" ## 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 = 130 "{{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}}" "0000154071" "21" "70" "11" "46911857" "46911857" "subst" "0" "01586" "LRP4_000017" "g.46911857C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46890306C>T" "" "likely pathogenic" "" "0000154072" "11" "70" "11" "46911927" "46911927" "subst" "8.12447E-6" "01586" "LRP4_000016" "g.46911927C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46890376C>T" "" "likely pathogenic" "" "0000163508" "21" "90" "11" "46905482" "46905482" "subst" "0" "01926" "LRP4_000018" "g.46905482G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.46883931G>C" "" "pathogenic" "" "0000248643" "0" "10" "11" "46914598" "46914598" "subst" "0.99913" "02325" "LRP4_000027" "g.46914598A>G" "" "" "" "LRP4(NM_002334.4):c.1623T>C (p.D541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46893047A>G" "" "benign" "" "0000251906" "0" "30" "11" "46886077" "46886077" "subst" "0.0197108" "02326" "LRP4_000019" "g.46886077A>T" "" "" "" "LRP4(NM_002334.3):c.5165T>A (p.(Leu1722His), p.L1722H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46864526A>T" "" "likely benign" "" "0000282318" "0" "10" "11" "46914583" "46914583" "subst" "0.988847" "02325" "LRP4_000026" "g.46914583T>C" "" "" "" "LRP4(NM_002334.4):c.1638A>G (p.K546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46893032T>C" "" "benign" "" "0000282319" "0" "10" "11" "46898771" "46898771" "subst" "0.588066" "02325" "LRP4_000024" "g.46898771T>C" "" "" "" "LRP4(NM_002334.4):c.3256A>G (p.I1086V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46877220T>C" "" "benign" "" "0000282320" "0" "10" "11" "46890165" "46890165" "subst" "0.680405" "02325" "LRP4_000021" "g.46890165C>T" "" "" "" "LRP4(NM_002334.4):c.4937G>A (p.R1646Q), LRP4-AS1(NR_038909.1):n.198-4460C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46868614C>T" "" "benign" "" "0000286043" "0" "30" "11" "46916179" "46916179" "subst" "0.0349246" "02326" "LRP4_000028" "g.46916179T>G" "" "" "" "LRP4(NM_002334.3):c.1501A>C (p.N501H), LRP4(NM_002334.4):c.1501A>C (p.(Asn501His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46894628T>G" "" "likely benign" "" "0000286044" "0" "70" "11" "46898319" "46898319" "subst" "0" "02326" "LRP4_000023" "g.46898319G>A" "" "" "" "LRP4(NM_002334.3):c.3340C>T (p.Q1114*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46876768G>A" "" "likely pathogenic" "" "0000291148" "0" "50" "11" "46907982" "46907982" "subst" "0.000146405" "01943" "LRP4_000025" "g.46907982C>T" "" "" "" "LRP4(NM_002334.3):c.2318G>A (p.R773H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46886431C>T" "" "VUS" "" "0000291149" "0" "30" "11" "46897434" "46897434" "subst" "0.000930032" "01943" "LRP4_000022" "g.46897434T>C" "" "" "" "LRP4(NM_002334.3):c.3620A>G (p.N1207S, p.(Asn1207Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46875883T>C" "" "likely benign" "" "0000291150" "0" "30" "11" "46889538" "46889538" "subst" "1.21864E-5" "01943" "LRP4_000020" "g.46889538C>T" "" "" "" "LRP4(NM_002334.3):c.5079G>A (p.V1693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46867987C>T" "" "likely benign" "" "0000340730" "0" "10" "11" "46914598" "46914598" "subst" "0.99913" "02327" "LRP4_000027" "g.46914598A>G" "" "" "" "LRP4(NM_002334.4):c.1623T>C (p.D541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46893047A>G" "" "benign" "" "0000340875" "0" "10" "11" "46914583" "46914583" "subst" "0.988847" "02327" "LRP4_000026" "g.46914583T>C" "" "" "" "LRP4(NM_002334.4):c.1638A>G (p.K546=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46893032T>C" "" "benign" "" "0000346554" "0" "10" "11" "46898771" "46898771" "subst" "0.588066" "02327" "LRP4_000024" "g.46898771T>C" "" "" "" "LRP4(NM_002334.4):c.3256A>G (p.I1086V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46877220T>C" "" "benign" "" "0000353022" "3" "90" "11" "0" "0" "" "0" "00006" "LRP4_000000" "g.?" "" "{PMID:Simon-Chazottes 2006:16517118}" "" "" "retroviral insertion; few percent normal mRNA" "animal model" "" "" "0" "" "" "" "" "pathogenic" "" "0000353023" "3" "90" "11" "46924385" "46924385" "subst" "0" "00006" "LRP4_000001" "g.46924385C>T" "" "{PMID:Li 2010:20381006}" "" "" "homozygosity mapping; not in 500 control chromosomes\r\nVariant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000353024" "3" "90" "11" "46921006" "46921006" "subst" "0" "00006" "LRP4_000002" "g.46921006C>T" "" "{PMID:Li 2010:20381006}" "" "" "homozygosity mapping; not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.46899455C>T" "" "pathogenic" "" "0000353025" "3" "90" "11" "46921435" "46921435" "subst" "0" "00006" "LRP4_000003" "g.46921435C>T" "" "{PMID:Li 2010:20381006}" "" "" "homozygosity mapping; not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.46899884C>T" "" "pathogenic" "" "0000353026" "3" "90" "11" "46916263" "46916263" "subst" "0" "00006" "LRP4_000004" "g.46916263G>A" "" "{PMID:Li 2010:20381006}" "" "" "homozygosity mapping; not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.46894712G>A" "" "pathogenic" "" "0000353027" "3" "90" "11" "46914636" "46914636" "subst" "0" "00006" "LRP4_000005" "g.46914636C>T" "" "{PMID:Li 2010:20381006}" "" "" "homozygosity mapping; not in 500 control chromosomes; shared haplotype" "Germline" "" "" "0" "" "" "g.46893085C>T" "" "pathogenic" "" "0000353028" "3" "90" "11" "46916335" "46916335" "subst" "0" "00006" "LRP4_000006" "g.46916335C>T" "" "{PMID:Li 2010:20381006}" "" "" "homozygosity mapping; not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.46894784C>T" "" "pathogenic" "" "0000353029" "3" "90" "11" "46916299" "46916299" "subst" "0" "00006" "LRP4_000007" "g.46916299T>G" "" "{PMID:Li 2010:20381006}" "" "1382A>C" "error in description (Fig. OK)" "Germline" "" "" "0" "" "" "g.46894748T>G" "" "pathogenic" "" "0000353030" "3" "90" "11" "46900545" "46900545" "subst" "0" "00006" "LRP4_000008" "g.46900545A>G" "" "{PMID:Li 2010:20381006}" "" "" "" "Germline" "" "" "0" "" "" "g.46878994A>G" "" "pathogenic" "" "0000353031" "3" "90" "11" "46914636" "46914636" "subst" "0" "00006" "LRP4_000005" "g.46914636C>T" "" "{PMID:Li 2010:20381006}" "" "" "shared haplotype" "Germline" "" "" "0" "" "" "g.46893085C>T" "" "pathogenic" "" "0000353032" "3" "90" "11" "46914636" "46914636" "subst" "0" "00006" "LRP4_000005" "g.46914636C>T" "" "{PMID:Li 2010:20381006}" "" "" "shared haplotype" "Germline" "" "" "0" "" "" "g.46893085C>T" "" "pathogenic" "" "0000353033" "11" "90" "11" "46921938" "46921938" "subst" "0" "00006" "LRP4_000009" "g.46921938C>T" "" "{PMID:Li 2010:20381006}" "" "" "" "Germline" "" "" "0" "" "" "g.46900387C>T" "" "pathogenic" "" "0000353034" "3" "90" "11" "46914636" "46914636" "subst" "0" "00006" "LRP4_000005" "g.46914636C>T" "" "{PMID:Li 2010:20381006}" "" "" "" "Germline" "" "" "0" "" "" "g.46893085C>T" "" "pathogenic" "" "0000353035" "3" "90" "11" "46911492" "46911492" "subst" "0" "00006" "LRP4_000000" "g.46911492T>A" "" "{PMID:Simon-Chazottes 2006:16517118}" "" "" "few percent normal mRNA" "Germline" "" "" "0" "" "" "g.46889941T>A" "" "pathogenic" "" "0000353036" "3" "90" "11" "46884156" "46884156" "subst" "0" "00006" "LRP4_000000" "g.46884156C>T" "" "{PMID:Johnson 2006:16963222}" "" "" "" "Germline" "" "" "0" "" "" "g.46862605C>T" "" "pathogenic" "" "0000353037" "3" "90" "11" "46890238" "46890239" "delins" "0" "00006" "LRP4_000000" "g.46890238_46890239delinsAT" "" "{PMID:Duchesne 2006:16859890}" "" "" "" "Germline" "" "" "0" "" "" "g.46868687_46868688delinsAT" "" "pathogenic" "" "0000353038" "11" "70" "11" "46896373" "46896373" "subst" "0" "02387" "LRP4_000011" "g.46896373C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46874822C>G" "" "likely pathogenic" "" "0000353039" "21" "90" "11" "46889658" "46889658" "subst" "0" "00006" "LRP4_000010" "g.46889658G>C" "" "{PMID:Li 2010:20381006}" "" "4959G>C (r.4952_4987del)" "error in description (Fig. OK)" "Germline" "" "" "0" "" "" "g.46868107G>C" "" "pathogenic" "" "0000353041" "21" "70" "11" "46893078" "46893078" "subst" "0" "02387" "LRP4_000030" "g.46893078G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46871527G>T" "" "likely pathogenic" "" "0000440134" "0" "50" "11" "46897120" "46897120" "subst" "0" "01164" "LRP4_000031" "g.46897120T>G" "" "" "" "" "not regarded causative for phenotype in patient, co-occurrence with pathogenic variant in KIF21A" "Germline" "" "" "0" "" "" "g.46875569T>G" "" "VUS" "ACMG" "0000544024" "0" "30" "11" "46886077" "46886077" "subst" "0.0197108" "01804" "LRP4_000019" "g.46886077A>T" "" "" "" "LRP4(NM_002334.3):c.5165T>A (p.(Leu1722His), p.L1722H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46864526A>T" "" "likely benign" "" "0000544025" "0" "50" "11" "46898361" "46898361" "subst" "0" "01804" "LRP4_000032" "g.46898361T>A" "" "" "" "LRP4(NM_002334.3):c.3298A>T (p.(Ser1100Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46876810T>A" "" "VUS" "" "0000544027" "0" "30" "11" "46911956" "46911956" "subst" "0.00127564" "01804" "LRP4_000034" "g.46911956T>C" "" "" "" "LRP4(NM_002334.3):c.1787A>G (p.(His596Arg), p.H596R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46890405T>C" "" "likely benign" "" "0000544028" "0" "30" "11" "46914526" "46914526" "subst" "0.0134378" "01804" "LRP4_000035" "g.46914526C>T" "" "" "" "LRP4(NM_002334.3):c.1695G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46892975C>T" "" "likely benign" "" "0000544029" "0" "30" "11" "46916179" "46916179" "subst" "0.0349246" "01804" "LRP4_000028" "g.46916179T>G" "" "" "" "LRP4(NM_002334.3):c.1501A>C (p.N501H), LRP4(NM_002334.4):c.1501A>C (p.(Asn501His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46894628T>G" "" "likely benign" "" "0000544030" "0" "10" "11" "46916315" "46916315" "subst" "0.00156745" "02326" "LRP4_000036" "g.46916315T>C" "" "" "" "LRP4(NM_002334.3):c.1365A>G (p.P455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46894764T>C" "" "benign" "" "0000544031" "0" "30" "11" "46917501" "46917501" "subst" "0.0182063" "01804" "LRP4_000037" "g.46917501G>A" "" "" "" "LRP4(NM_002334.4):c.1117C>T (p.(Arg373Trp), p.R373W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46895950G>A" "" "likely benign" "" "0000544032" "0" "30" "11" "46917868" "46917868" "subst" "0.0136315" "01804" "LRP4_000038" "g.46917868A>G" "" "" "" "LRP4(NM_002334.3):c.941T>C (p.(Leu314Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46896317A>G" "" "likely benign" "" "0000613351" "0" "30" "11" "46897434" "46897434" "subst" "0.000930032" "02326" "LRP4_000022" "g.46897434T>C" "" "" "" "LRP4(NM_002334.3):c.3620A>G (p.N1207S, p.(Asn1207Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46875883T>C" "" "likely benign" "" "0000613352" "0" "50" "11" "46897455" "46897455" "subst" "2.84299E-5" "01943" "LRP4_000039" "g.46897455G>A" "" "" "" "LRP4(NM_002334.3):c.3599C>T (p.S1200L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46875904G>A" "" "VUS" "" "0000613353" "0" "30" "11" "46898036" "46898036" "subst" "8.12717E-6" "01804" "LRP4_000040" "g.46898036C>T" "" "" "" "LRP4(NM_002334.3):c.3517G>A (p.(Val1173Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46876485C>T" "" "likely benign" "" "0000613354" "0" "30" "11" "46900813" "46900813" "subst" "0.000779936" "01943" "LRP4_000041" "g.46900813C>T" "" "" "" "LRP4(NM_002334.3):c.2868G>A (p.E956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46879262C>T" "" "likely benign" "" "0000648259" "1" "10" "11" "46889607" "46889607" "subst" "0.0112401" "03575" "LRP4_000042" "g.46889607C>T" "80/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "80 heterozygous; {DB:CLININrs111426027}" "Germline" "" "rs111426027" "0" "" "" "g.46868056C>T" "" "benign" "" "0000648260" "1" "30" "11" "46916179" "46916179" "subst" "0.0349246" "03575" "LRP4_000028" "g.46916179T>G" "67/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "67 heterozygous, no homozygous; {DB:CLININrs72897663}" "Germline" "" "rs72897663" "0" "" "" "g.46894628T>G" "" "likely benign" "" "0000648261" "1" "30" "11" "46917501" "46917501" "subst" "0.0182063" "03575" "LRP4_000037" "g.46917501G>A" "99/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "99 heterozygous; {DB:CLININrs118009068}" "Germline" "" "rs118009068" "0" "" "" "g.46895950G>A" "" "likely benign" "" "0000656796" "0" "50" "11" "46912010" "46912010" "subst" "2.4421E-5" "01804" "LRP4_000043" "g.46912010C>T" "" "" "" "LRP4(NM_002334.3):c.1733G>A (p.(Arg578His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46890459C>T" "" "VUS" "" "0000669124" "3" "10" "11" "46889607" "46889607" "subst" "0.0112401" "03575" "LRP4_000042" "g.46889607C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs111426027}" "Germline" "" "rs111426027" "0" "" "" "g.46868056C>T" "" "benign" "" "0000669125" "3" "30" "11" "46917501" "46917501" "subst" "0.0182063" "03575" "LRP4_000037" "g.46917501G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs118009068}" "Germline" "" "rs118009068" "0" "" "" "g.46895950G>A" "" "likely benign" "" "0000691071" "0" "50" "11" "46889546" "46889546" "subst" "0.000373738" "01943" "LRP4_000044" "g.46889546C>T" "" "" "" "LRP4(NM_002334.3):c.5071G>A (p.E1691K, p.(Glu1691Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691072" "0" "30" "11" "46921466" "46921466" "subst" "0.000292685" "02326" "LRP4_000045" "g.46921466C>T" "" "" "" "LRP4(NM_002334.3):c.378G>A (p.L126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691073" "0" "50" "11" "46924448" "46924448" "subst" "2.03193E-5" "01804" "LRP4_000046" "g.46924448G>A" "" "" "" "LRP4(NM_002334.3):c.85C>T (p.(Arg29Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723458" "0" "30" "11" "46880592" "46880592" "subst" "0.00104881" "01804" "LRP4_000047" "g.46880592G>C" "" "" "" "LRP4(NM_002334.3):c.5660C>G (p.(Ser1887Cys), p.S1887C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723459" "0" "30" "11" "46886060" "46886060" "subst" "0.000374443" "01943" "LRP4_000048" "g.46886060T>C" "" "" "" "LRP4(NM_002334.3):c.5182A>G (p.I1728V), LRP4(NM_002334.4):c.5182A>G (p.(Ile1728Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723460" "0" "30" "11" "46900530" "46900530" "subst" "0.00105185" "01804" "LRP4_000049" "g.46900530T>C" "" "" "" "LRP4(NM_002334.3):c.3064A>G (p.(Asn1022Asp), p.N1022D), LRP4(NM_002334.4):c.3064A>G (p.N1022D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723461" "0" "50" "11" "46905464" "46905464" "subst" "1.21849E-5" "01804" "LRP4_000050" "g.46905464T>G" "" "" "" "LRP4(NM_002334.3):c.2570A>C (p.(Asn857Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723462" "0" "30" "11" "46921062" "46921062" "subst" "0.000179689" "01804" "LRP4_000051" "g.46921062G>A" "" "" "" "LRP4(NM_002334.3):c.431-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723463" "0" "30" "11" "46921454" "46921454" "subst" "2.84502E-5" "01943" "LRP4_000052" "g.46921454A>G" "" "" "" "LRP4(NM_002334.3):c.390T>C (p.D130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805136" "0" "30" "11" "46880592" "46880592" "subst" "0.00104881" "02326" "LRP4_000047" "g.46880592G>C" "" "" "" "LRP4(NM_002334.3):c.5660C>G (p.(Ser1887Cys), p.S1887C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805137" "0" "30" "11" "46893155" "46893155" "subst" "0.00184686" "02326" "LRP4_000053" "g.46893155C>T" "" "" "" "LRP4(NM_002334.3):c.4613G>A (p.R1538Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805138" "0" "30" "11" "46917754" "46917754" "subst" "0.00175764" "02326" "LRP4_000054" "g.46917754C>A" "" "" "" "LRP4(NM_002334.3):c.1048+7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852911" "0" "30" "11" "46917812" "46917812" "subst" "0.00319294" "01804" "LRP4_000056" "g.46917812C>T" "" "" "" "LRP4(NM_002334.3):c.997G>A (p.(Gly333Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862540" "0" "50" "11" "46890166" "46890166" "subst" "8.54381E-5" "01804" "LRP4_000055" "g.46890166G>A" "" "" "" "LRP4(NM_002334.3):c.4936C>T (p.(Arg1646Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889838" "0" "30" "11" "46880732" "46880732" "subst" "0.00116611" "02326" "LRP4_000057" "g.46880732A>G" "" "" "" "LRP4(NM_002334.3):c.5520T>C (p.H1840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889839" "0" "30" "11" "46897115" "46897115" "subst" "0.00404868" "02326" "LRP4_000058" "g.46897115G>T" "" "" "" "LRP4(NM_002334.3):c.3817C>A (p.R1273=), LRP4(NM_002334.4):c.3817C>A (p.(Arg1273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889840" "0" "50" "11" "46900469" "46900469" "subst" "0" "01804" "LRP4_000059" "g.46900469G>C" "" "" "" "LRP4(NM_002334.3):c.3125C>G (p.(Thr1042Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889841" "0" "50" "11" "46908043" "46908043" "subst" "8.13015E-6" "01804" "LRP4_000060" "g.46908043G>A" "" "" "" "LRP4(NM_002334.3):c.2257C>T (p.(Arg753Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889842" "0" "30" "11" "46917501" "46917501" "subst" "0.0182063" "02325" "LRP4_000037" "g.46917501G>A" "" "" "" "LRP4(NM_002334.4):c.1117C>T (p.(Arg373Trp), p.R373W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889843" "0" "30" "11" "46917754" "46917754" "subst" "0.00175764" "01804" "LRP4_000054" "g.46917754C>A" "" "" "" "LRP4(NM_002334.3):c.1048+7G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904813" "3" "70" "11" "46897356" "46897356" "subst" "0" "00006" "LRP4_000061" "g.46897356T>G" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "" "0" "" "" "g.46875805T>G" "VCV001180722.1" "VUS" "" "0000913583" "0" "50" "11" "46897180" "46897180" "subst" "0.00010175" "01804" "LRP4_000062" "g.46897180G>A" "" "" "" "LRP4(NM_002334.3):c.3752C>T (p.(Pro1251Leu)), LRP4(NM_002334.4):c.3752C>T (p.P1251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925388" "0" "30" "11" "46889632" "46889632" "subst" "4.06088E-6" "01804" "LRP4_000063" "g.46889632G>C" "" "" "" "LRP4(NM_002334.3):c.4985C>G (p.(Thr1662Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925389" "0" "30" "11" "46916303" "46916303" "subst" "0" "02326" "LRP4_000064" "g.46916303C>T" "" "" "" "LRP4(NM_002334.3):c.1377G>A (p.E459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929869" "0" "30" "11" "46920491" "46920491" "subst" "1.22043E-5" "01804" "LRP4_000065" "g.46920491C>T" "" "" "" "LRP4(NM_002334.3):c.640G>A (p.(Asp214Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966375" "0" "30" "11" "46900530" "46900530" "subst" "0.00105185" "02329" "LRP4_000049" "g.46900530T>C" "" "" "" "LRP4(NM_002334.3):c.3064A>G (p.(Asn1022Asp), p.N1022D), LRP4(NM_002334.4):c.3064A>G (p.N1022D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966376" "0" "30" "11" "46911956" "46911956" "subst" "0.00127564" "02326" "LRP4_000034" "g.46911956T>C" "" "" "" "LRP4(NM_002334.3):c.1787A>G (p.(His596Arg), p.H596R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979586" "0" "50" "11" "46886693" "46886693" "subst" "0" "01804" "LRP4_000066" "g.46886693T>C" "" "" "" "LRP4(NM_002334.4):c.5132A>G (p.(Asn1711Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979587" "0" "50" "11" "46890609" "46890609" "subst" "0" "01804" "LRP4_000067" "g.46890609G>C" "" "" "" "LRP4(NM_002334.4):c.4767C>G (p.(Asn1589Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979588" "0" "50" "11" "46896345" "46896345" "subst" "4.06633E-6" "01804" "LRP4_000068" "g.46896345T>C" "" "" "" "LRP4(NM_002334.4):c.4229+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979589" "0" "50" "11" "46897180" "46897180" "subst" "0.00010175" "02325" "LRP4_000062" "g.46897180G>A" "" "" "" "LRP4(NM_002334.3):c.3752C>T (p.(Pro1251Leu)), LRP4(NM_002334.4):c.3752C>T (p.P1251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979590" "0" "50" "11" "46897430" "46897430" "subst" "0" "01804" "LRP4_000069" "g.46897430G>C" "" "" "" "LRP4(NM_002334.4):c.3624C>G (p.(Asn1208Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979591" "0" "50" "11" "46898125" "46898125" "subst" "2.85407E-5" "01804" "LRP4_000070" "g.46898125G>A" "" "" "" "LRP4(NM_002334.4):c.3428C>T (p.(Thr1143Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979592" "0" "50" "11" "46910964" "46910964" "subst" "9.35134E-5" "01804" "LRP4_000071" "g.46910964T>G" "" "" "" "LRP4(NM_002334.4):c.2213A>C (p.(Gln738Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979593" "0" "30" "11" "46918412" "46918412" "subst" "5.68486E-5" "01804" "LRP4_000072" "g.46918412G>A" "" "" "" "LRP4(NM_002334.4):c.922+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979594" "0" "50" "11" "46918548" "46918548" "subst" "0" "01804" "LRP4_000073" "g.46918548G>A" "" "" "" "LRP4(NM_002334.4):c.797-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999050" "0" "50" "11" "46880626" "46880626" "subst" "3.25343E-5" "01804" "LRP4_000074" "g.46880626C>T" "" "" "" "LRP4(NM_002334.3):c.5626G>A (p.(Val1876Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999051" "0" "30" "11" "46880752" "46880752" "subst" "3.25039E-5" "01804" "LRP4_000075" "g.46880752C>G" "" "" "" "LRP4(NM_002334.3):c.5500G>C (p.(Gly1834Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999052" "0" "50" "11" "46889546" "46889546" "subst" "0.000373738" "01804" "LRP4_000044" "g.46889546C>T" "" "" "" "LRP4(NM_002334.3):c.5071G>A (p.E1691K, p.(Glu1691Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999053" "0" "30" "11" "46895013" "46895013" "subst" "1.21948E-5" "01804" "LRP4_000076" "g.46895013G>A" "" "" "" "LRP4(NM_002334.3):c.4361C>T (p.(Ala1454Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999054" "0" "50" "11" "46895100" "46895100" "subst" "0.000146542" "01804" "LRP4_000077" "g.46895100C>T" "" "" "" "LRP4(NM_002334.3):c.4274G>A (p.(Arg1425Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999055" "0" "50" "11" "46896498" "46896498" "subst" "2.43938E-5" "01804" "LRP4_000078" "g.46896498C>T" "" "" "" "LRP4(NM_002334.3):c.4082G>A (p.(Arg1361His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999056" "0" "50" "11" "46897088" "46897088" "subst" "1.21956E-5" "01804" "LRP4_000079" "g.46897088T>G" "" "" "" "LRP4(NM_002334.3):c.3844A>C (p.(Thr1282Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999057" "0" "50" "11" "46897104" "46897104" "subst" "0" "02325" "LRP4_000080" "g.46897104G>C" "" "" "" "LRP4(NM_002334.4):c.3828C>G (p.H1276Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999058" "0" "30" "11" "46897434" "46897434" "subst" "0.000930032" "01804" "LRP4_000022" "g.46897434T>C" "" "" "" "LRP4(NM_002334.3):c.3620A>G (p.N1207S, p.(Asn1207Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999059" "0" "30" "11" "46900688" "46900688" "subst" "3.65791E-5" "01804" "LRP4_000081" "g.46900688C>T" "" "" "" "LRP4(NM_002334.3):c.2993G>A (p.(Arg998His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999060" "0" "50" "11" "46900738" "46900739" "del" "0" "01804" "LRP4_000082" "g.46900738_46900739del" "" "" "" "LRP4(NM_002334.3):c.2944_2945delCT (p.(Leu982fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999061" "0" "50" "11" "46905519" "46905519" "subst" "2.84347E-5" "01804" "LRP4_000083" "g.46905519G>A" "" "" "" "LRP4(NM_002334.3):c.2515C>T (p.(Arg839Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999062" "0" "30" "11" "46918491" "46918491" "subst" "3.2486E-5" "01804" "LRP4_000084" "g.46918491C>T" "" "" "" "LRP4(NM_002334.3):c.851G>A (p.(Arg284His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999063" "0" "50" "11" "46918522" "46918522" "subst" "4.06068E-5" "01804" "LRP4_000085" "g.46918522G>C" "" "" "" "LRP4(NM_002334.3):c.820C>G (p.(Gln274Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999064" "0" "50" "11" "46920541" "46920541" "subst" "1.22208E-5" "01804" "LRP4_000086" "g.46920541T>G" "" "" "" "LRP4(NM_002334.3):c.590A>C (p.(Gln197Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999065" "0" "50" "11" "46921004" "46921004" "subst" "4.06147E-6" "01804" "LRP4_000087" "g.46921004T>A" "" "" "" "LRP4(NM_002334.3):c.481A>T (p.(Ile161Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999066" "0" "50" "11" "46921869" "46921869" "subst" "1.21821E-5" "01804" "LRP4_000088" "g.46921869G>A" "" "" "" "LRP4(NM_002334.3):c.260C>T (p.(Ser87Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014795" "0" "30" "11" "46900530" "46900530" "subst" "0.00105185" "02326" "LRP4_000049" "g.46900530T>C" "" "" "" "LRP4(NM_002334.3):c.3064A>G (p.(Asn1022Asp), p.N1022D), LRP4(NM_002334.4):c.3064A>G (p.N1022D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038467" "0" "30" "11" "46880739" "46880739" "subst" "0.000154413" "01804" "LRP4_000089" "g.46880739C>T" "" "" "" "LRP4(NM_002334.4):c.5513G>A (p.(Arg1838Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038468" "0" "50" "11" "46886060" "46886060" "subst" "0.000374443" "01804" "LRP4_000048" "g.46886060T>C" "" "" "" "LRP4(NM_002334.3):c.5182A>G (p.I1728V), LRP4(NM_002334.4):c.5182A>G (p.(Ile1728Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038469" "0" "50" "11" "46894989" "46894989" "subst" "0" "01804" "LRP4_000090" "g.46894989C>A" "" "" "" "LRP4(NM_002334.4):c.4385G>T (p.(Arg1462Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038470" "0" "50" "11" "46897525" "46897525" "del" "0" "01804" "LRP4_000091" "g.46897525del" "" "" "" "LRP4(NM_002334.4):c.3537-8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038471" "0" "30" "11" "46898745" "46898745" "subst" "2.43873E-5" "01804" "LRP4_000092" "g.46898745C>A" "" "" "" "LRP4(NM_002334.4):c.3277+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038472" "0" "50" "11" "46900521" "46900521" "subst" "0.000101532" "01804" "LRP4_000093" "g.46900521C>G" "" "" "" "LRP4(NM_002334.4):c.3073G>C (p.(Gly1025Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038473" "0" "50" "11" "46903416" "46903416" "subst" "0" "01804" "LRP4_000094" "g.46903416A>C" "" "" "" "LRP4(NM_002334.4):c.2651T>G (p.(Ile884Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038474" "0" "50" "11" "46905424" "46905424" "subst" "0" "01804" "LRP4_000095" "g.46905424G>A" "" "" "" "LRP4(NM_002334.4):c.2610C>T (p.(Gly870=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038475" "0" "50" "11" "46917564" "46917564" "subst" "0" "01804" "LRP4_000096" "g.46917564G>C" "" "" "" "LRP4(NM_002334.4):c.1054C>G (p.(Arg352Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046313" "0" "30" "11" "46920442" "46920442" "subst" "0.000500643" "02326" "LRP4_000097" "g.46920442C>T" "" "" "" "LRP4(NM_002334.3):c.676+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053858" "0" "50" "11" "46895052" "46895052" "subst" "4.06504E-6" "01804" "LRP4_000098" "g.46895052T>C" "" "" "" "LRP4(NM_002334.4):c.4322A>G (p.(Asn1441Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053859" "0" "50" "11" "46896426" "46896426" "subst" "1.21902E-5" "01804" "LRP4_000099" "g.46896426T>C" "" "" "" "LRP4(NM_002334.4):c.4154A>G (p.(Asn1385Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053860" "0" "30" "11" "46897115" "46897115" "subst" "0.00404868" "01804" "LRP4_000058" "g.46897115G>T" "" "" "" "LRP4(NM_002334.3):c.3817C>A (p.R1273=), LRP4(NM_002334.4):c.3817C>A (p.(Arg1273=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053861" "0" "50" "11" "46898367" "46898367" "subst" "0.000150382" "01804" "LRP4_000100" "g.46898367A>T" "" "" "" "LRP4(NM_002334.4):c.3292T>A (p.(Ser1098Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053862" "0" "50" "11" "46900686" "46900686" "subst" "0" "01804" "LRP4_000101" "g.46900686G>A" "" "" "" "LRP4(NM_002334.4):c.2995C>T (p.(Arg999Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053863" "0" "50" "11" "46916193" "46916193" "subst" "2.44202E-5" "01804" "LRP4_000102" "g.46916193T>G" "" "" "" "LRP4(NM_002334.4):c.1487A>C (p.(Asn496Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053864" "0" "50" "11" "46918521" "46918521" "subst" "0" "01804" "LRP4_000103" "g.46918521T>C" "" "" "" "LRP4(NM_002334.4):c.821A>G (p.(Gln274Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053865" "0" "50" "11" "46920124" "46920124" "subst" "0" "01804" "LRP4_000104" "g.46920124C>T" "" "" "" "LRP4(NM_002334.4):c.781G>A (p.(Asp261Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053866" "0" "30" "11" "46920492" "46920492" "subst" "0.00106981" "01804" "LRP4_000105" "g.46920492G>A" "" "" "" "LRP4(NM_002334.4):c.639C>T (p.(Asp213=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053867" "0" "50" "11" "46920497" "46920497" "subst" "4.06736E-6" "01804" "LRP4_000106" "g.46920497C>T" "" "" "" "LRP4(NM_002334.4):c.634G>A (p.(Gly212Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053868" "0" "50" "11" "46920946" "46920946" "subst" "0.000113726" "01804" "LRP4_000107" "g.46920946T>C" "" "" "" "LRP4(NM_002334.4):c.539A>G (p.(Glu180Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053869" "0" "50" "11" "46921469" "46921469" "subst" "8.13048E-6" "01804" "LRP4_000108" "g.46921469A>T" "" "" "" "LRP4(NM_002334.4):c.375T>A (p.(Ser125Arg))" "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 LRP4 ## Count = 130 "{{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}}" "0000154071" "00023984" "70" "1886" "0" "1886" "0" "c.1886G>A" "r.(?)" "p.(Gly629Glu)" "14" "0000154072" "00023984" "70" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Asp606Asn)" "14" "0000163508" "00023984" "90" "2552" "0" "2552" "0" "c.2552C>G" "r.(?)" "p.(Thr851Arg)" "19" "0000248643" "00023984" "10" "1623" "0" "1623" "0" "c.1623T>C" "r.(?)" "p.(Asp541=)" "" "0000251906" "00023984" "30" "5165" "0" "5165" "0" "c.5165T>A" "r.(?)" "p.(Leu1722His)" "" "0000282318" "00023984" "10" "1638" "0" "1638" "0" "c.1638A>G" "r.(?)" "p.(Lys546=)" "" "0000282319" "00023984" "10" "3256" "0" "3256" "0" "c.3256A>G" "r.(?)" "p.(Ile1086Val)" "" "0000282320" "00023984" "10" "4937" "0" "4937" "0" "c.4937G>A" "r.(?)" "p.(Arg1646Gln)" "" "0000286043" "00023984" "30" "1501" "0" "1501" "0" "c.1501A>C" "r.(?)" "p.(Asn501His)" "" "0000286044" "00023984" "70" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Gln1114Ter)" "" "0000291148" "00023984" "50" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773His)" "" "0000291149" "00023984" "30" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(Asn1207Ser)" "" "0000291150" "00023984" "30" "5079" "0" "5079" "0" "c.5079G>A" "r.(?)" "p.(Val1693=)" "" "0000340730" "00023984" "10" "1623" "0" "1623" "0" "c.1623T>C" "r.(?)" "p.(Asp541=)" "" "0000340875" "00023984" "10" "1638" "0" "1638" "0" "c.1638A>G" "r.(?)" "p.(Lys546=)" "" "0000346554" "00023984" "10" "3256" "0" "3256" "0" "c.3256A>G" "r.(?)" "p.(Ile1086Val)" "" "0000353022" "00023984" "90" "52" "0" "53" "0" "c.(52_53ins?)" "r.0" "p.0" "1i" "0000353023" "00023984" "90" "147" "1" "147" "1" "c.147+1G>A" "r.spl?" "p.?" "5" "0000353024" "00023984" "90" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Cys160Tyr)" "5" "0000353025" "00023984" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Asp137Asn)" "4" "0000353026" "00023984" "90" "1417" "0" "1417" "0" "c.1417C>T" "r.(?)" "p.(Leu473Phe)" "12" "0000353027" "00023984" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Asp529Asn)" "13" "0000353028" "00023984" "90" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Asp449Asn)" "12" "0000353029" "00023984" "90" "1381" "0" "1381" "0" "c.(1381A>C)" "r.(?)" "p.(Thr461Pro)" "11" "0000353030" "00023984" "90" "3049" "0" "3049" "0" "c.3049T>C" "r.(?)" "p.(Cys1017Arg)" "22" "0000353031" "00023984" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Asp529Asn)" "13" "0000353032" "00023984" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Asp529Asn)" "13" "0000353033" "00023984" "90" "200" "-9" "200" "-9" "c.200-9G>A" "r.199_200ins200-7_200-1" "p.Ile67ArgfsX11" "2i" "0000353034" "00023984" "90" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Asp529Asn)" "13" "0000353035" "00023984" "90" "2092" "3" "2092" "3" "c.(2092+3A>T)" "r.[1916_2092del, =]" "p.[Leu640_Gly698del, =]" "15i" "0000353036" "00023984" "90" "5385" "1" "5385" "1" "c.(5385+1G>A)" "r.5243_5244ins?" "p.fsX" "37i" "0000353037" "00023984" "90" "4863" "0" "4864" "0" "c.(4863_4864delinsAT)" "r.4863_4864delinsau" "p.1621Asn_Gly1622delinsLysCys" "33" "0000353038" "00023984" "70" "4207" "0" "4207" "0" "c.4207G>C" "r.(?)" "p.(Asp1403His)" "28" "0000353039" "00023984" "90" "4959" "0" "4959" "0" "c.4959C>G" "r.4952_5087del" "p.Val1651AspfsX41" "34" "0000353041" "00023984" "70" "4690" "0" "4690" "0" "c.4690C>A" "r.(?)" "p.(Gln1564Lys)" "31" "0000440134" "00023984" "50" "3812" "0" "3812" "0" "c.3812A>C" "r.(?)" "p.Gln1271Pro" "" "0000544024" "00023984" "30" "5165" "0" "5165" "0" "c.5165T>A" "r.(?)" "p.(Leu1722His)" "" "0000544025" "00023984" "50" "3298" "0" "3298" "0" "c.3298A>T" "r.(?)" "p.(Ser1100Cys)" "" "0000544027" "00023984" "30" "1787" "0" "1787" "0" "c.1787A>G" "r.(?)" "p.(His596Arg)" "" "0000544028" "00023984" "30" "1695" "0" "1695" "0" "c.1695G>A" "r.(?)" "p.(Glu565=)" "" "0000544029" "00023984" "30" "1501" "0" "1501" "0" "c.1501A>C" "r.(?)" "p.(Asn501His)" "" "0000544030" "00023984" "10" "1365" "0" "1365" "0" "c.1365A>G" "r.(?)" "p.(Pro455=)" "" "0000544031" "00023984" "30" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "" "0000544032" "00023984" "30" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Leu314Ser)" "" "0000613351" "00023984" "30" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(Asn1207Ser)" "" "0000613352" "00023984" "50" "3599" "0" "3599" "0" "c.3599C>T" "r.(?)" "p.(Ser1200Leu)" "" "0000613353" "00023984" "30" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Val1173Ile)" "" "0000613354" "00023984" "30" "2868" "0" "2868" "0" "c.2868G>A" "r.(?)" "p.(Glu956=)" "" "0000648259" "00023984" "10" "5010" "0" "5010" "0" "c.5010G>A" "r.(=)" "p.(=)" "" "0000648260" "00023984" "30" "1501" "0" "1501" "0" "c.1501A>C" "r.(?)" "p.(Asn501His)" "" "0000648261" "00023984" "30" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "" "0000656796" "00023984" "50" "1733" "0" "1733" "0" "c.1733G>A" "r.(?)" "p.(Arg578His)" "" "0000669124" "00023984" "10" "5010" "0" "5010" "0" "c.5010G>A" "r.(=)" "" "" "0000669125" "00023984" "30" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "" "0000691071" "00023984" "50" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Glu1691Lys)" "" "0000691072" "00023984" "30" "378" "0" "378" "0" "c.378G>A" "r.(?)" "p.(Leu126=)" "" "0000691073" "00023984" "50" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Arg29Trp)" "" "0000723458" "00023984" "30" "5660" "0" "5660" "0" "c.5660C>G" "r.(?)" "p.(Ser1887Cys)" "" "0000723459" "00023984" "30" "5182" "0" "5182" "0" "c.5182A>G" "r.(?)" "p.(Ile1728Val)" "" "0000723460" "00023984" "30" "3064" "0" "3064" "0" "c.3064A>G" "r.(?)" "p.(Asn1022Asp)" "" "0000723461" "00023984" "50" "2570" "0" "2570" "0" "c.2570A>C" "r.(?)" "p.(Asn857Thr)" "" "0000723462" "00023984" "30" "431" "-8" "431" "-8" "c.431-8C>T" "r.(=)" "p.(=)" "" "0000723463" "00023984" "30" "390" "0" "390" "0" "c.390T>C" "r.(?)" "p.(Asp130=)" "" "0000805136" "00023984" "30" "5660" "0" "5660" "0" "c.5660C>G" "r.(?)" "p.(Ser1887Cys)" "" "0000805137" "00023984" "30" "4613" "0" "4613" "0" "c.4613G>A" "r.(?)" "p.(Arg1538Gln)" "" "0000805138" "00023984" "30" "1048" "7" "1048" "7" "c.1048+7G>T" "r.(=)" "p.(=)" "" "0000852911" "00023984" "30" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Gly333Arg)" "" "0000862540" "00023984" "50" "4936" "0" "4936" "0" "c.4936C>T" "r.(?)" "p.(Arg1646Trp)" "" "0000889838" "00023984" "30" "5520" "0" "5520" "0" "c.5520T>C" "r.(?)" "p.(His1840=)" "" "0000889839" "00023984" "30" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273=)" "" "0000889840" "00023984" "50" "3125" "0" "3125" "0" "c.3125C>G" "r.(?)" "p.(Thr1042Ser)" "" "0000889841" "00023984" "50" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Cys)" "" "0000889842" "00023984" "30" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Trp)" "" "0000889843" "00023984" "30" "1048" "7" "1048" "7" "c.1048+7G>T" "r.(=)" "p.(=)" "" "0000904813" "00023984" "70" "3698" "0" "3698" "0" "c.3698A>C" "r.(?)" "p.(Glu1233Ala)" "" "0000913583" "00023984" "50" "3752" "0" "3752" "0" "c.3752C>T" "r.(?)" "p.(Pro1251Leu)" "" "0000925388" "00023984" "30" "4985" "0" "4985" "0" "c.4985C>G" "r.(?)" "p.(Thr1662Ser)" "" "0000925389" "00023984" "30" "1377" "0" "1377" "0" "c.1377G>A" "r.(?)" "p.(Glu459=)" "" "0000929869" "00023984" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Asp214Asn)" "" "0000966375" "00023984" "30" "3064" "0" "3064" "0" "c.3064A>G" "r.(?)" "p.(Asn1022Asp)" "" "0000966376" "00023984" "30" "1787" "0" "1787" "0" "c.1787A>G" "r.(?)" "p.(His596Arg)" "" "0000979586" "00023984" "50" "5132" "0" "5132" "0" "c.5132A>G" "r.(?)" "p.(Asn1711Ser)" "" "0000979587" "00023984" "50" "4767" "0" "4767" "0" "c.4767C>G" "r.(?)" "p.(Asn1589Lys)" "" "0000979588" "00023984" "50" "4229" "6" "4229" "6" "c.4229+6A>G" "r.(=)" "p.(=)" "" "0000979589" "00023984" "50" "3752" "0" "3752" "0" "c.3752C>T" "r.(?)" "p.(Pro1251Leu)" "" "0000979590" "00023984" "50" "3624" "0" "3624" "0" "c.3624C>G" "r.(?)" "p.(Asn1208Lys)" "" "0000979591" "00023984" "50" "3428" "0" "3428" "0" "c.3428C>T" "r.(?)" "p.(Thr1143Met)" "" "0000979592" "00023984" "50" "2213" "0" "2213" "0" "c.2213A>C" "r.(?)" "p.(Gln738Pro)" "" "0000979593" "00023984" "30" "922" "8" "922" "8" "c.922+8C>T" "r.(=)" "p.(=)" "" "0000979594" "00023984" "50" "797" "-3" "797" "-3" "c.797-3C>T" "r.spl?" "p.?" "" "0000999050" "00023984" "50" "5626" "0" "5626" "0" "c.5626G>A" "r.(?)" "p.(Val1876Ile)" "" "0000999051" "00023984" "30" "5500" "0" "5500" "0" "c.5500G>C" "r.(?)" "p.(Gly1834Arg)" "" "0000999052" "00023984" "50" "5071" "0" "5071" "0" "c.5071G>A" "r.(?)" "p.(Glu1691Lys)" "" "0000999053" "00023984" "30" "4361" "0" "4361" "0" "c.4361C>T" "r.(?)" "p.(Ala1454Val)" "" "0000999054" "00023984" "50" "4274" "0" "4274" "0" "c.4274G>A" "r.(?)" "p.(Arg1425Gln)" "" "0000999055" "00023984" "50" "4082" "0" "4082" "0" "c.4082G>A" "r.(?)" "p.(Arg1361His)" "" "0000999056" "00023984" "50" "3844" "0" "3844" "0" "c.3844A>C" "r.(?)" "p.(Thr1282Pro)" "" "0000999057" "00023984" "50" "3828" "0" "3828" "0" "c.3828C>G" "r.(?)" "p.(His1276Gln)" "" "0000999058" "00023984" "30" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(Asn1207Ser)" "" "0000999059" "00023984" "30" "2993" "0" "2993" "0" "c.2993G>A" "r.(?)" "p.(Arg998His)" "" "0000999060" "00023984" "50" "2944" "0" "2945" "0" "c.2944_2945del" "r.(?)" "p.(Leu982Alafs*32)" "" "0000999061" "00023984" "50" "2515" "0" "2515" "0" "c.2515C>T" "r.(?)" "p.(Arg839Trp)" "" "0000999062" "00023984" "30" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Arg284His)" "" "0000999063" "00023984" "50" "820" "0" "820" "0" "c.820C>G" "r.(?)" "p.(Gln274Glu)" "" "0000999064" "00023984" "50" "590" "0" "590" "0" "c.590A>C" "r.(?)" "p.(Gln197Pro)" "" "0000999065" "00023984" "50" "481" "0" "481" "0" "c.481A>T" "r.(?)" "p.(Ile161Phe)" "" "0000999066" "00023984" "50" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ser87Phe)" "" "0001014795" "00023984" "30" "3064" "0" "3064" "0" "c.3064A>G" "r.(?)" "p.(Asn1022Asp)" "" "0001038467" "00023984" "30" "5513" "0" "5513" "0" "c.5513G>A" "r.(?)" "p.(Arg1838Gln)" "" "0001038468" "00023984" "50" "5182" "0" "5182" "0" "c.5182A>G" "r.(?)" "p.(Ile1728Val)" "" "0001038469" "00023984" "50" "4385" "0" "4385" "0" "c.4385G>T" "r.(?)" "p.(Arg1462Leu)" "" "0001038470" "00023984" "50" "3537" "-8" "3537" "-8" "c.3537-8del" "r.(=)" "p.(=)" "" "0001038471" "00023984" "30" "3277" "5" "3277" "5" "c.3277+5G>T" "r.spl?" "p.?" "" "0001038472" "00023984" "50" "3073" "0" "3073" "0" "c.3073G>C" "r.(?)" "p.(Gly1025Arg)" "" "0001038473" "00023984" "50" "2651" "0" "2651" "0" "c.2651T>G" "r.(?)" "p.(Ile884Ser)" "" "0001038474" "00023984" "50" "2610" "0" "2610" "0" "c.2610C>T" "r.(?)" "p.(=)" "" "0001038475" "00023984" "50" "1054" "0" "1054" "0" "c.1054C>G" "r.(?)" "p.(Arg352Gly)" "" "0001046313" "00023984" "30" "676" "13" "676" "13" "c.676+13G>A" "r.(=)" "p.(=)" "" "0001053858" "00023984" "50" "4322" "0" "4322" "0" "c.4322A>G" "r.(?)" "p.(Asn1441Ser)" "" "0001053859" "00023984" "50" "4154" "0" "4154" "0" "c.4154A>G" "r.(?)" "p.(Asn1385Ser)" "" "0001053860" "00023984" "30" "3817" "0" "3817" "0" "c.3817C>A" "r.(?)" "p.(Arg1273=)" "" "0001053861" "00023984" "50" "3292" "0" "3292" "0" "c.3292T>A" "r.(?)" "p.(Ser1098Thr)" "" "0001053862" "00023984" "50" "2995" "0" "2995" "0" "c.2995C>T" "r.(?)" "p.(Arg999Trp)" "" "0001053863" "00023984" "50" "1487" "0" "1487" "0" "c.1487A>C" "r.(?)" "p.(Asn496Thr)" "" "0001053864" "00023984" "50" "821" "0" "821" "0" "c.821A>G" "r.(?)" "p.(Gln274Arg)" "" "0001053865" "00023984" "50" "781" "0" "781" "0" "c.781G>A" "r.(?)" "p.(Asp261Asn)" "" "0001053866" "00023984" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(=)" "" "0001053867" "00023984" "50" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Ser)" "" "0001053868" "00023984" "50" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Glu180Gly)" "" "0001053869" "00023984" "50" "375" "0" "375" "0" "c.375T>A" "r.(?)" "p.(Ser125Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000095497" "0000154071" "0000095497" "0000154072" "0000101064" "0000163508" "0000153806" "0000353022" "0000153807" "0000353023" "0000153808" "0000353024" "0000153809" "0000353025" "0000153810" "0000353026" "0000153811" "0000353027" "0000153812" "0000353028" "0000153813" "0000353029" "0000153814" "0000353030" "0000153815" "0000353031" "0000153816" "0000353032" "0000153817" "0000353033" "0000153817" "0000353039" "0000153818" "0000353034" "0000153819" "0000353035" "0000153820" "0000353036" "0000153821" "0000353037" "0000153822" "0000353038" "0000153822" "0000353041" "0000209890" "0000440134" "0000291570" "0000648259" "0000291571" "0000648260" "0000291572" "0000648261" "0000305436" "0000669124" "0000305437" "0000669125" "0000427453" "0000904813"