### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VLDLR) # 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}}" "VLDLR" "very low density lipoprotein receptor" "9" "p24" "unknown" "NG_012741.1" "UD_132118761875" "" "http://www.LOVD.nl/VLDLR" "" "1" "12698" "7436" "192977" "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/VLDLR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-11 07:12:43" "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}}" "00024091" "VLDLR" "transcript variant 1" "001" "NM_003383.3" "" "NP_003374.3" "" "" "" "-397" "3239" "2622" "2621793" "2654485" "00008" "2016-01-06 06:26:30" "" "" ## 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" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "00802" "CAMRQ1" "ataxia, cerebellar, mental retardation, quadrupedal locomotion, type 1 (CAMRQ-1)" "AR" "224050" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05599" "CAMRQ" "ataxia, cerebellar, mental retardation, quadrupedal locomotion (CAMRQ)" "" "" "" "" "" "00006" "2019-05-24 09:17:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "VLDLR" "00139" "VLDLR" "00802" "VLDLR" "05599" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050559" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected mother/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00057180" "" "" "" "1" "" "01469" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00210004" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00210055" "" "" "" "1" "" "03121" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "M" "" "" "" "0" "" "" "" "IP16" "00235444" "" "" "" "5" "" "00006" "{PMID:Ozcelik 2008:18326629}" "3-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Turkey" "" "0" "" "" "" "Family A" "00235445" "" "" "" "3" "" "00006" "{PMID:Ozcelik 2008:18326629}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Turkey" "" "0" "" "" "" "Family D" "00294836" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294837" "" "" "" "138" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305246" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00387808" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, third cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8700052" "00401567" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "157P" "00415922" "" "" "" "1" "" "00000" "{PMID:Wissinger 2011:21882291}" "" "F" "" "" "" "0" "" "" "" "CHRO158_W07-1637" "00448668" "" "" "" "2" "" "04066" "{PMID:Holling 2024:39085459}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "FamPat1" "00448669" "" "" "00448668" "1" "" "04066" "{PMID:Holling 2024:39085459}" "sister" "F" "" "Egypt" "" "0" "" "" "" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00050559" "00198" "00057180" "00802" "00210055" "00212" "00235444" "00198" "00235445" "00198" "00294836" "00198" "00294837" "00198" "00305246" "00198" "00387808" "00139" "00401567" "00139" "00415922" "04214" "00448668" "05162" "00448669" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00212, 00802, 04214, 05162, 05599 ## Count = 10 "{{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}}" "0000037171" "00198" "00050559" "00006" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000043861" "00802" "00057180" "01469" "Familial, autosomal recessive" "" "At 22 months of age, the patient showed global hypotonia, truncal ataxia, nystagmus, intentional tremor, dysmetria and motor delay. At age of 12 years mild dysarthria, moderate intellectual impairment and mild ataxia gait were present, nystagmus was absent and walking without support. MRI, performed at 3 and 9 years of age, showed marked but not progressive ponto-cerebellar hypoplasia associated to mild simplification of cortical gyration" "" "" "" "" "" "" "" "" "" "" "" "0000158602" "00198" "00210004" "01164" "Unknown" "" "HP:0012110 (Hypoplasia of the pons); HP:0006955 (Olivopontocerebellar hypoplasia)" "" "" "" "" "" "" "" "" "" "" "" "0000158629" "00212" "00210055" "03121" "Unknown" "" "Has unaffected MZ twin" "" "?" "" "" "" "" "" "" "" "" "" "0000175706" "00198" "00235444" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebellar hypoplasia, quadrupedal locomotion" "" "" "" "" "" "" "" "" "CAMRQ-1" "quadrupedal locomotion" "" "0000175707" "00198" "00235445" "00006" "Familial, autosomal recessive" "" "see paper; ..., cerebellar hypoplasia, quadrupedal locomotion" "" "" "" "" "" "" "" "" "CAMRQ-1" "quadrupedal locomotion" "" "0000281376" "00139" "00387808" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000307694" "04214" "00415922" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "achromatopsia" "achromatopsie" "" "0000337845" "05162" "00448668" "04066" "Familial, autosomal recessive" "" "neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "0000337846" "05162" "00448669" "04066" "Familial, autosomal recessive" "" "neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050504" "00050559" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057142" "00057180" "1" "01469" "01469" "2016-01-14 19:31:51" "" "" "SEQ" "DNA" "" "" "0000211061" "00210004" "1" "01164" "01164" "2018-12-25 09:53:50" "" "" "SEQ-NG" "DNA" "" "" "0000211115" "00210055" "1" "03121" "03121" "2018-12-26 04:34:22" "" "" "SEQ-NG" "DNA" "Buccal" "WES" "0000236548" "00235444" "1" "00006" "00006" "2019-05-24 17:37:26" "" "" "SEQ" "DNA" "" "" "0000236549" "00235445" "1" "00006" "00006" "2019-05-24 17:42:00" "" "" "SEQ" "DNA" "" "" "0000296004" "00294836" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296005" "00294837" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306375" "00305246" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000389039" "00387808" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000402810" "00401567" "1" "02494" "02494" "2022-02-01 09:49:37" "" "" "SEQ-NG" "DNA" "" "WES" "0000417203" "00415922" "1" "00000" "03840" "2022-08-18 12:48:49" "" "" "STR;arraySNP;TaqMan;arrayCGH;SEQ" "DNA" "blood" "" "0000450259" "00448668" "1" "04066" "04066" "2024-04-10 10:26:02" "00006" "2024-09-25 09:29:14" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000450260" "00448669" "1" "04066" "04066" "2024-04-10 11:11:14" "00006" "2024-09-25 09:29:47" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000057142" "VLDLR" "0000236548" "VLDLR" "0000236549" "VLDLR" "0000389039" "VLDLR" "0000417203" "KCNV2" "0000450259" "VLDLR" "0000450260" "VLDLR" ## 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 = 86 "{{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}}" "0000079484" "0" "90" "9" "204104" "8198999" "del" "0" "00006" "GLDC_000111" "g.204104_8198999del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.204104_8198999del" "" "pathogenic" "" "0000087430" "3" "70" "9" "2645026" "2645026" "subst" "0" "01469" "VLDLR_000001" "g.2645026G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.2645026G>A" "" "likely pathogenic" "" "0000253675" "0" "10" "9" "2648773" "2648773" "subst" "0.144614" "01943" "VLDLR_000051" "g.2648773A>G" "" "" "" "VLDLR(NM_003383.4):c.2067A>G (p.Q689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2648773A>G" "" "benign" "" "0000253836" "0" "10" "9" "2645557" "2645557" "subst" "0.156171" "01943" "VLDLR_000028" "g.2645557A>T" "" "" "" "VLDLR(NM_003383.4):c.1313-17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2645557A>T" "" "benign" "" "0000254833" "0" "30" "9" "2639898" "2639898" "subst" "0.0019898" "01943" "VLDLR_000008" "g.2639898A>G" "" "" "" "VLDLR(NM_003383.4):c.242A>G (p.N81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2639898A>G" "" "likely benign" "" "0000256093" "0" "50" "9" "2646401" "2646401" "subst" "0" "01943" "VLDLR_000050" "g.2646401A>G" "" "" "" "VLDLR(NM_003383.4):c.1552A>G (p.I518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2646401A>G" "" "VUS" "" "0000256185" "0" "50" "9" "2646492" "2646492" "subst" "0.000588947" "01943" "VLDLR_000033" "g.2646492A>G" "" "" "" "VLDLR(NM_003383.4):c.1643A>G (p.K548R), VLDLR(NM_003383.5):c.1643A>G (p.(Lys548Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2646492A>G" "" "VUS" "" "0000256398" "0" "50" "9" "2646381" "2646381" "subst" "0.000125921" "01943" "VLDLR_000032" "g.2646381A>G" "" "" "" "VLDLR(NM_003383.4):c.1532A>G (p.N511S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2646381A>G" "" "VUS" "" "0000256496" "0" "50" "9" "2643875" "2643875" "subst" "0.000480003" "01943" "VLDLR_000021" "g.2643875A>G" "" "" "" "VLDLR(NM_003383.4):c.982A>G (p.S328G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643875A>G" "" "VUS" "" "0000319601" "0" "30" "9" "2653878" "2653878" "subst" "0" "01943" "VLDLR_000045" "g.2653878C>T" "" "" "" "VLDLR(NM_003383.4):c.*10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2653878C>T" "" "likely benign" "" "0000319602" "0" "50" "9" "2643947" "2643947" "subst" "4.06283E-6" "01943" "VLDLR_000022" "g.2643947C>G" "" "" "" "VLDLR(NM_003383.4):c.1054C>G (p.L352V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643947C>G" "" "VUS" "" "0000319603" "0" "50" "9" "2643960" "2643960" "subst" "4.06362E-6" "01943" "VLDLR_000024" "g.2643960G>A" "" "" "" "VLDLR(NM_003383.4):c.1066+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643960G>A" "" "VUS" "" "0000319604" "0" "30" "9" "2643959" "2643959" "subst" "1.219E-5" "01943" "VLDLR_000023" "g.2643959C>T" "" "" "" "VLDLR(NM_003383.4):c.1066C>T (p.H356Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643959C>T" "" "likely benign" "" "0000319605" "0" "30" "9" "2644741" "2644741" "subst" "0.00030061" "01943" "VLDLR_000025" "g.2644741C>T" "" "" "" "VLDLR(NM_003383.4):c.1074C>T (p.N358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2644741C>T" "" "likely benign" "" "0000319606" "0" "10" "9" "2644954" "2644954" "subst" "0.144672" "01943" "VLDLR_000026" "g.2644954C>T" "" "" "" "VLDLR(NM_003383.4):c.1187-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2644954C>T" "" "benign" "" "0000319607" "0" "50" "9" "2635497" "2635497" "subst" "0" "01943" "VLDLR_000003" "g.2635497G>A" "" "" "" "VLDLR(NM_003383.4):c.127G>A (p.G43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2635497G>A" "" "VUS" "" "0000319608" "0" "10" "9" "2645109" "2645109" "subst" "0.144106" "01943" "VLDLR_000027" "g.2645109G>A" "" "" "" "VLDLR(NM_003383.4):c.1312+27G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2645109G>A" "" "benign" "" "0000319609" "0" "50" "9" "2645718" "2645718" "subst" "0" "01943" "VLDLR_000029" "g.2645718C>G" "" "" "" "VLDLR(NM_003383.4):c.1457C>G (p.A486G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2645718C>G" "" "VUS" "" "0000319610" "0" "10" "9" "2645719" "2645719" "subst" "0.0126212" "01943" "VLDLR_000030" "g.2645719C>T" "" "" "" "VLDLR(NM_003383.4):c.1458C>T (p.A486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2645719C>T" "" "benign" "" "0000319611" "0" "10" "9" "2645773" "2645773" "subst" "0.141776" "01943" "VLDLR_000031" "g.2645773T>G" "" "" "" "VLDLR(NM_003383.4):c.1484+28T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2645773T>G" "" "benign" "" "0000319612" "0" "10" "9" "2635545" "2635545" "subst" "0.0236906" "01943" "VLDLR_000004" "g.2635545G>A" "" "" "" "VLDLR(NM_001018056.1):c.175G>A (p.(Val59Ile)), VLDLR(NM_003383.4):c.175G>A (p.V59I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2635545G>A" "" "benign" "" "0000319613" "0" "30" "9" "2647561" "2647561" "subst" "0.000511742" "01943" "VLDLR_000034" "g.2647561G>A" "" "" "" "VLDLR(NM_003383.4):c.1791G>A (p.A597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2647561G>A" "" "likely benign" "" "0000319614" "0" "30" "9" "2647579" "2647579" "subst" "0.000925994" "01943" "VLDLR_000035" "g.2647579C>T" "" "" "" "VLDLR(NM_003383.4):c.1809C>T (p.N603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2647579C>T" "" "likely benign" "" "0000319615" "0" "30" "9" "2635550" "2635550" "subst" "2.43667E-5" "01943" "VLDLR_000005" "g.2635550C>T" "" "" "" "VLDLR(NM_003383.4):c.180C>T (p.D60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2635550C>T" "" "likely benign" "" "0000319616" "0" "50" "9" "2635551" "2635551" "subst" "1.21825E-5" "01943" "VLDLR_000006" "g.2635551G>A" "" "" "" "VLDLR(NM_003383.4):c.181G>A (p.G61S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2635551G>A" "" "VUS" "" "0000319617" "0" "50" "9" "2648286" "2648286" "subst" "0.000797215" "01943" "VLDLR_000036" "g.2648286G>A" "" "" "" "VLDLR(NM_003383.4):c.1901G>A (p.R634H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2648286G>A" "" "VUS" "" "0000319618" "0" "90" "9" "2648349" "2648349" "subst" "0" "01943" "VLDLR_000037" "g.2648349T>A" "" "" "" "VLDLR(NM_003383.4):c.1962+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2648349T>A" "" "pathogenic" "" "0000319619" "0" "30" "9" "2650395" "2650395" "subst" "0" "01943" "VLDLR_000038" "g.2650395G>A" "" "" "" "VLDLR(NM_003383.4):c.2130G>A (p.M710I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2650395G>A" "" "likely benign" "" "0000319620" "0" "10" "9" "2651385" "2651385" "subst" "0.0345633" "01943" "VLDLR_000040" "g.2651385T>C" "" "" "" "VLDLR(NM_003383.4):c.2252-30T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651385T>C" "" "benign" "" "0000319621" "0" "30" "9" "2651440" "2651440" "subst" "0" "01943" "VLDLR_000041" "g.2651440T>C" "" "" "" "VLDLR(NM_003383.4):c.2277T>C (p.S759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651440T>C" "" "likely benign" "" "0000319622" "0" "10" "9" "2651454" "2651454" "subst" "0.00118975" "01943" "VLDLR_000042" "g.2651454C>T" "" "" "" "VLDLR(NM_003383.4):c.2291C>T (p.T764M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651454C>T" "" "benign" "" "0000319623" "0" "50" "9" "2622212" "2622212" "subst" "0" "01943" "VLDLR_000047" "g.2622212C>A" "" "" "" "VLDLR(NM_003383.4):c.23C>A (p.A8E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2622212C>A" "" "VUS" "" "0000319624" "0" "30" "9" "2651967" "2651967" "subst" "0.000150599" "01943" "VLDLR_000044" "g.2651967C>T" "" "" "" "VLDLR(NM_003383.4):c.2416+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651967C>T" "" "likely benign" "" "0000319625" "0" "10" "9" "2651962" "2651962" "subst" "0.181441" "01943" "VLDLR_000043" "g.2651962G>T" "" "" "" "VLDLR(NM_003383.4):c.2416+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2651962G>T" "" "benign" "" "0000319626" "0" "50" "9" "2643175" "2643175" "subst" "0.000715542" "01943" "VLDLR_000009" "g.2643175G>C" "" "" "" "VLDLR(NM_003383.4):c.464G>C (p.S155T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643175G>C" "" "VUS" "" "0000319627" "0" "30" "9" "2643182" "2643182" "subst" "0.00014271" "01943" "VLDLR_000010" "g.2643182C>T" "" "" "" "VLDLR(NM_003383.4):c.471C>T (p.D157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643182C>T" "" "likely benign" "" "0000319628" "0" "50" "9" "2643270" "2643270" "subst" "0" "01943" "VLDLR_000011" "g.2643270G>T" "" "" "" "VLDLR(NM_003383.4):c.559G>T (p.D187Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643270G>T" "" "VUS" "" "0000319629" "0" "30" "9" "2643293" "2643293" "subst" "8.14259E-5" "01943" "VLDLR_000012" "g.2643293C>T" "" "" "" "VLDLR(NM_003383.4):c.582C>T (p.G194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643293C>T" "" "likely benign" "" "0000319630" "0" "30" "9" "2643350" "2643350" "subst" "7.72684E-5" "01943" "VLDLR_000013" "g.2643350C>T" "" "" "" "VLDLR(NM_003383.4):c.639C>T (p.D213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643350C>T" "" "likely benign" "" "0000319631" "0" "50" "9" "2643443" "2643443" "subst" "0.000479375" "01943" "VLDLR_000014" "g.2643443C>G" "" "" "" "VLDLR(NM_003383.4):c.732C>G (p.I244M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643443C>G" "" "VUS" "" "0000319632" "0" "30" "9" "2643464" "2643464" "subst" "0" "01943" "VLDLR_000015" "g.2643464C>T" "" "" "" "VLDLR(NM_003383.4):c.753C>T (p.C251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643464C>T" "" "likely benign" "" "0000319633" "0" "30" "9" "2622270" "2622270" "subst" "0" "01943" "VLDLR_000048" "g.2622270C>A" "" "" "" "VLDLR(NM_003383.4):c.81C>A (p.T27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2622270C>A" "" "likely benign" "" "0000319634" "0" "10" "9" "2622278" "2622278" "subst" "0.367262" "01943" "VLDLR_000049" "g.2622278G>A" "" "" "" "VLDLR(NM_003383.4):c.82+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2622278G>A" "" "benign" "" "0000319635" "0" "50" "9" "2643643" "2643643" "subst" "0.000178741" "01943" "VLDLR_000017" "g.2643643G>A" "" "" "" "VLDLR(NM_003383.4):c.836G>A (p.R279Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643643G>A" "" "VUS" "" "0000319636" "0" "50" "9" "2643751" "2643751" "subst" "0" "01943" "VLDLR_000018" "g.2643751G>A" "" "" "" "VLDLR(NM_003383.4):c.943+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643751G>A" "" "VUS" "" "0000319637" "0" "10" "9" "2643832" "2643832" "subst" "0.00780353" "01943" "VLDLR_000019" "g.2643832T>C" "" "" "" "VLDLR(NM_003383.4):c.944-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643832T>C" "" "benign" "" "0000319638" "0" "30" "9" "2643847" "2643847" "subst" "0.00148591" "01943" "VLDLR_000020" "g.2643847C>T" "" "" "" "VLDLR(NM_003383.4):c.954C>T (p.C318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643847C>T" "" "likely benign" "" "0000332549" "0" "50" "9" "2635472" "2635472" "subst" "0" "01804" "VLDLR_000002" "g.2635472A>T" "" "" "" "VLDLR(NM_001018056.1):c.102A>T (p.(Glu34Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2635472A>T" "" "VUS" "" "0000332551" "0" "50" "9" "2643634" "2643634" "subst" "1.21876E-5" "01804" "VLDLR_000016" "g.2643634G>C" "" "" "" "VLDLR(NM_001018056.1):c.827G>C (p.(Arg276Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2643634G>C" "" "VUS" "" "0000332552" "0" "30" "9" "2650396" "2650396" "subst" "4.06382E-6" "01804" "VLDLR_000039" "g.2650396G>A" "" "" "" "VLDLR(NM_001018056.1):c.2131G>A (p.(Glu711Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2650396G>A" "" "likely benign" "" "0000442479" "0" "50" "9" "2651933" "2651933" "subst" "0.00013816" "01164" "VLDLR_000052" "g.2651933G>A" "" "" "" "" "no second variant detected in VLDLR" "Germline" "" "rs183359461" "0" "" "" "g.2651933G>A" "" "VUS" "ACMG" "0000442544" "0" "70" "9" "2645718" "2645718" "subst" "0" "03121" "VLDLR_000029" "g.2645718C>G" "" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "" "" "Germline" "" "" "0" "" "" "g.2645718C>G" "" "likely pathogenic" "" "0000480513" "3" "90" "9" "2643480" "2643480" "subst" "0" "00006" "VLDLR_000053" "g.2643480C>T" "" "{PMID:Ozcelik 2008:18326629}" "" "" "" "Germline" "yes" "" "0" "" "" "g.2643480C>T" "" "pathogenic (recessive)" "" "0000480514" "3" "90" "9" "2651877" "2651877" "del" "0" "00006" "VLDLR_000054" "g.2651877del" "" "{PMID:Ozcelik 2008:18326629}" "" "2339delT" "" "Germline" "yes" "" "0" "" "" "g.2651877del" "" "pathogenic (recessive)" "" "0000537831" "0" "30" "9" "2622169" "2622171" "dup" "0" "02326" "VLDLR_000055" "g.2622169_2622171dup" "" "" "" "VLDLR(NM_003383.4):c.-22_-20dupCGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2622169_2622171dup" "" "likely benign" "" "0000537832" "0" "10" "9" "2643179" "2643179" "subst" "0.00179648" "01943" "VLDLR_000056" "g.2643179C>T" "" "" "" "VLDLR(NM_003383.4):c.468C>T (p.P156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2643179C>T" "" "benign" "" "0000537833" "0" "50" "9" "2643709" "2643709" "subst" "0.0022707" "01943" "VLDLR_000057" "g.2643709G>A" "" "" "" "VLDLR(NM_003383.4):c.902G>A (p.R301Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2643709G>A" "" "VUS" "" "0000537834" "0" "30" "9" "2646445" "2646445" "subst" "0.000109662" "01943" "VLDLR_000058" "g.2646445G>A" "" "" "" "VLDLR(NM_003383.4):c.1596G>A (p.A532=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2646445G>A" "" "likely benign" "" "0000537835" "0" "30" "9" "2646461" "2646461" "subst" "0" "01804" "VLDLR_000059" "g.2646461T>A" "" "" "" "VLDLR(NM_001018056.1):c.1612T>A (p.(Ser538Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2646461T>A" "" "likely benign" "" "0000537838" "0" "30" "9" "2648357" "2648357" "subst" "1.22055E-5" "01943" "VLDLR_000062" "g.2648357G>C" "" "" "" "VLDLR(NM_003383.4):c.1962+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2648357G>C" "" "likely benign" "" "0000537839" "0" "30" "9" "2648747" "2648747" "subst" "0.00703785" "01943" "VLDLR_000063" "g.2648747C>T" "" "" "" "VLDLR(NM_003383.4):c.2041C>T (p.L681=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2648747C>T" "" "likely benign" "" "0000537840" "0" "50" "9" "2652909" "2652909" "subst" "1.62497E-5" "01943" "VLDLR_000064" "g.2652909T>C" "" "" "" "VLDLR(NM_003383.4):c.2546T>C (p.I849T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2652909T>C" "" "VUS" "" "0000612065" "0" "50" "9" "2643503" "2643503" "subst" "0.000247718" "01943" "VLDLR_000067" "g.2643503C>T" "" "" "" "VLDLR(NM_003383.4):c.792C>T (p.C264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2643503C>T" "" "VUS" "" "0000622248" "0" "30" "9" "2643449" "2643449" "subst" "0.000568856" "01943" "VLDLR_000066" "g.2643449C>T" "" "" "" "VLDLR(NM_003383.4):c.738C>T (p.C246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2643449C>T" "" "likely benign" "" "0000652693" "1" "70" "9" "2622191" "2622191" "subst" "0" "03575" "VLDLR_000068" "g.2622191T>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs797046092}" "Germline" "" "rs797046092" "0" "" "" "g.2622191T>C" "" "likely pathogenic" "" "0000652694" "1" "30" "9" "2635545" "2635545" "subst" "0.0236906" "03575" "VLDLR_000004" "g.2635545G>A" "138/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "138 heterozygous; {DB:CLININrs6149}" "Germline" "" "rs6149" "0" "" "" "g.2635545G>A" "" "likely benign" "" "0000656330" "0" "30" "9" "2643251" "2643251" "subst" "0.000122142" "01943" "VLDLR_000069" "g.2643251C>T" "" "" "" "VLDLR(NM_003383.4):c.540C>T (p.S180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2643251C>T" "" "likely benign" "" "0000656332" "0" "30" "9" "2646516" "2646516" "subst" "0.000195006" "01943" "VLDLR_000060" "g.2646516G>A" "" "" "" "VLDLR(NM_003383.4):c.1667G>A (p.R556Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2646516G>A" "" "likely benign" "" "0000670063" "3" "30" "9" "2635545" "2635545" "subst" "0.0236906" "03575" "VLDLR_000004" "g.2635545G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs6149}" "Germline" "" "rs6149" "0" "" "" "g.2635545G>A" "" "likely benign" "" "0000678652" "0" "30" "9" "2645015" "2645015" "subst" "2.84333E-5" "01943" "VLDLR_000070" "g.2645015C>T" "" "" "" "VLDLR(NM_003383.4):c.1245C>T (p.G415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690512" "0" "30" "9" "2643717" "2643717" "subst" "0" "01943" "VLDLR_000071" "g.2643717G>T" "" "" "" "VLDLR(NM_003383.4):c.910G>T (p.V304F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722472" "0" "30" "9" "2635545" "2635545" "subst" "0.0236906" "01804" "VLDLR_000004" "g.2635545G>A" "" "" "" "VLDLR(NM_001018056.1):c.175G>A (p.(Val59Ile)), VLDLR(NM_003383.4):c.175G>A (p.V59I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804068" "0" "50" "9" "2644981" "2644981" "subst" "5.28047E-5" "01943" "VLDLR_000072" "g.2644981G>T" "" "" "" "VLDLR(NM_003383.4):c.1211G>T (p.G404V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804069" "0" "50" "9" "2645598" "2645598" "subst" "4.06564E-6" "01943" "VLDLR_000073" "g.2645598C>G" "" "" "" "VLDLR(NM_003383.4):c.1337C>G (p.T446S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817832" "3" "90" "9" "2645603" "2645603" "subst" "0" "00006" "VLDLR_000074" "g.2645603C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.2645603C>T" "" "pathogenic (recessive)" "ACMG" "0000837047" "3" "50" "9" "2648304" "2648304" "subst" "0" "02494" "VLDLR_000075" "g.2648304C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000852232" "0" "50" "9" "2648696" "2648696" "subst" "1.62476E-5" "02327" "VLDLR_000078" "g.2648696A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861611" "0" "30" "9" "2635456" "2635456" "subst" "0" "01943" "VLDLR_000076" "g.2635456G>A" "" "" "" "VLDLR(NM_003383.4):c.86G>A (p.R29K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861612" "0" "30" "9" "2639971" "2639971" "subst" "6.49709E-5" "01943" "VLDLR_000077" "g.2639971A>G" "" "" "" "VLDLR(NM_003383.4):c.315A>G (p.P105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000876799" "11" "70" "9" "2580596" "2817413" "del" "0" "00000" "KCNV2_000171" "g.2580596_2817413del" "" "{PMID:Wissinger 2011:21882291}" "" "KCNV2 D5: g.2570596_2807413del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.2580596_2817413del" "" "likely pathogenic" "" "0000972221" "3" "70" "9" "2641427" "2641427" "subst" "4.06134E-6" "04066" "VLDLR_000079" "g.2641427C>T" "" "{PMID:Holling 2024:39085459}" "" "" "analysis RNA patient fibroblasts" "Germline" "yes" "" "0" "" "" "g.2641427C>T" "" "pathogenic (recessive)" "ACMG" "0000972222" "3" "70" "9" "2641427" "2641427" "subst" "4.06134E-6" "04066" "VLDLR_000079" "g.2641427C>T" "" "{PMID:Holling 2024:39085459}" "" "" "analysis RNA patient fibroblasts" "Germline" "yes" "" "0" "" "" "g.2641427C>T" "" "pathogenic (recessive)" "ACMG" "0000978662" "0" "50" "9" "2646492" "2646492" "subst" "0.000588947" "01804" "VLDLR_000033" "g.2646492A>G" "" "" "" "VLDLR(NM_003383.4):c.1643A>G (p.K548R), VLDLR(NM_003383.5):c.1643A>G (p.(Lys548Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997819" "0" "70" "9" "2644969" "2644969" "subst" "0" "02325" "VLDLR_000080" "g.2644969G>A" "" "" "" "VLDLR(NM_003383.5):c.1199G>A (p.C400Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037466" "0" "50" "9" "2643252" "2643252" "subst" "4.06944E-6" "01804" "VLDLR_000081" "g.2643252G>A" "" "" "" "VLDLR(NM_003383.5):c.541G>A (p.(Asp181Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037467" "0" "30" "9" "2648816" "2648816" "subst" "8.13213E-6" "01804" "VLDLR_000082" "g.2648816G>A" "" "" "" "VLDLR(NM_003383.5):c.2104+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes VLDLR ## Count = 86 "{{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}}" "0000079484" "00024091" "00" "-2418086" "0" "5547753" "0" "c.-2418086_*5545131del" "r.0?" "p.0?" "" "0000087430" "00024091" "70" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Cys419Tyr)" "9" "0000253675" "00024091" "10" "2067" "0" "2067" "0" "c.2067A>G" "r.(?)" "p.(Gln689=)" "" "0000253836" "00024091" "10" "1313" "-17" "1313" "-17" "c.1313-17A>T" "r.(=)" "p.(=)" "" "0000254833" "00024091" "30" "242" "0" "242" "0" "c.242A>G" "r.(?)" "p.(Asn81Ser)" "" "0000256093" "00024091" "50" "1552" "0" "1552" "0" "c.1552A>G" "r.(?)" "p.(Ile518Val)" "" "0000256185" "00024091" "50" "1643" "0" "1643" "0" "c.1643A>G" "r.(?)" "p.(Lys548Arg)" "" "0000256398" "00024091" "50" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(Asn511Ser)" "" "0000256496" "00024091" "50" "982" "0" "982" "0" "c.982A>G" "r.(?)" "p.(Ser328Gly)" "" "0000319601" "00024091" "30" "2632" "0" "2632" "0" "c.*10C>T" "r.(=)" "p.(=)" "" "0000319602" "00024091" "50" "1054" "0" "1054" "0" "c.1054C>G" "r.(?)" "p.(Leu352Val)" "" "0000319603" "00024091" "50" "1066" "1" "1066" "1" "c.1066+1G>A" "r.spl?" "p.?" "" "0000319604" "00024091" "30" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(His356Tyr)" "" "0000319605" "00024091" "30" "1074" "0" "1074" "0" "c.1074C>T" "r.(?)" "p.(Asn358=)" "" "0000319606" "00024091" "10" "1187" "-3" "1187" "-3" "c.1187-3C>T" "r.spl?" "p.?" "" "0000319607" "00024091" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Ser)" "" "0000319608" "00024091" "10" "1312" "27" "1312" "27" "c.1312+27G>A" "r.(=)" "p.(=)" "" "0000319609" "00024091" "50" "1457" "0" "1457" "0" "c.1457C>G" "r.(?)" "p.(Ala486Gly)" "" "0000319610" "00024091" "10" "1458" "0" "1458" "0" "c.1458C>T" "r.(?)" "p.(Ala486=)" "" "0000319611" "00024091" "10" "1484" "28" "1484" "28" "c.1484+28T>G" "r.(=)" "p.(=)" "" "0000319612" "00024091" "10" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Val59Ile)" "" "0000319613" "00024091" "30" "1791" "0" "1791" "0" "c.1791G>A" "r.(?)" "p.(Ala597=)" "" "0000319614" "00024091" "30" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Asn603=)" "" "0000319615" "00024091" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Asp60=)" "" "0000319616" "00024091" "50" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Gly61Ser)" "" "0000319617" "00024091" "50" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634His)" "" "0000319618" "00024091" "90" "1962" "2" "1962" "2" "c.1962+2T>A" "r.spl?" "p.?" "" "0000319619" "00024091" "30" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(Met710Ile)" "" "0000319620" "00024091" "10" "2252" "-30" "2252" "-30" "c.2252-30T>C" "r.(=)" "p.(=)" "" "0000319621" "00024091" "30" "2277" "0" "2277" "0" "c.2277T>C" "r.(?)" "p.(Ser759=)" "" "0000319622" "00024091" "10" "2291" "0" "2291" "0" "c.2291C>T" "r.(?)" "p.(Thr764Met)" "" "0000319623" "00024091" "50" "23" "0" "23" "0" "c.23C>A" "r.(?)" "p.(Ala8Glu)" "" "0000319624" "00024091" "30" "2416" "13" "2416" "13" "c.2416+13C>T" "r.(=)" "p.(=)" "" "0000319625" "00024091" "10" "2416" "8" "2416" "8" "c.2416+8G>T" "r.(=)" "p.(=)" "" "0000319626" "00024091" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "" "0000319627" "00024091" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Asp157=)" "" "0000319628" "00024091" "50" "559" "0" "559" "0" "c.559G>T" "r.(?)" "p.(Asp187Tyr)" "" "0000319629" "00024091" "30" "582" "0" "582" "0" "c.582C>T" "r.(?)" "p.(Gly194=)" "" "0000319630" "00024091" "30" "639" "0" "639" "0" "c.639C>T" "r.(?)" "p.(Asp213=)" "" "0000319631" "00024091" "50" "732" "0" "732" "0" "c.732C>G" "r.(?)" "p.(Ile244Met)" "" "0000319632" "00024091" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(Cys251=)" "" "0000319633" "00024091" "30" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Thr27=)" "" "0000319634" "00024091" "10" "82" "7" "82" "7" "c.82+7G>A" "r.(=)" "p.(=)" "" "0000319635" "00024091" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279Gln)" "" "0000319636" "00024091" "50" "943" "1" "943" "1" "c.943+1G>A" "r.spl?" "p.?" "" "0000319637" "00024091" "10" "944" "-5" "944" "-5" "c.944-5T>C" "r.spl?" "p.?" "" "0000319638" "00024091" "30" "954" "0" "954" "0" "c.954C>T" "r.(?)" "p.(Cys318=)" "" "0000332549" "00024091" "50" "102" "0" "102" "0" "c.102A>T" "r.(?)" "p.(Glu34Asp)" "" "0000332551" "00024091" "50" "827" "0" "827" "0" "c.827G>C" "r.(?)" "p.(Arg276Pro)" "" "0000332552" "00024091" "30" "2131" "0" "2131" "0" "c.2131G>A" "r.(?)" "p.(Glu711Lys)" "" "0000442479" "00024091" "50" "2395" "0" "2395" "0" "c.2395G>A" "r.(?)" "p.Ala799Thr" "" "0000442544" "00024091" "70" "1457" "0" "1457" "0" "c.1457C>G" "r.(?)" "p.(Ala486Gly)" "" "0000480513" "00024091" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000480514" "00024091" "90" "2339" "0" "2339" "0" "c.2339del" "r.(?)" "p.(Ile780Thrfs*3)" "" "0000537831" "00024091" "30" "-21" "0" "-19" "0" "c.-21_-19dup" "r.(?)" "p.(=)" "" "0000537832" "00024091" "10" "468" "0" "468" "0" "c.468C>T" "r.(?)" "p.(Pro156=)" "" "0000537833" "00024091" "50" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301Gln)" "" "0000537834" "00024091" "30" "1596" "0" "1596" "0" "c.1596G>A" "r.(?)" "p.(Ala532=)" "" "0000537835" "00024091" "30" "1612" "0" "1612" "0" "c.1612T>A" "r.(?)" "p.(Ser538Thr)" "" "0000537838" "00024091" "30" "1962" "10" "1962" "10" "c.1962+10G>C" "r.(=)" "p.(=)" "" "0000537839" "00024091" "30" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Leu681=)" "" "0000537840" "00024091" "50" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(Ile849Thr)" "" "0000612065" "00024091" "50" "792" "0" "792" "0" "c.792C>T" "r.(?)" "p.(Cys264=)" "" "0000622248" "00024091" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Cys246=)" "" "0000652693" "00024091" "70" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000652694" "00024091" "30" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Val59Ile)" "" "0000656330" "00024091" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(Ser180=)" "" "0000656332" "00024091" "30" "1667" "0" "1667" "0" "c.1667G>A" "r.(?)" "p.(Arg556Gln)" "" "0000670063" "00024091" "30" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Val59Ile)" "" "0000678652" "00024091" "30" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Gly415=)" "" "0000690512" "00024091" "30" "910" "0" "910" "0" "c.910G>T" "r.(?)" "p.(Val304Phe)" "" "0000722472" "00024091" "30" "175" "0" "175" "0" "c.175G>A" "r.(?)" "p.(Val59Ile)" "" "0000804068" "00024091" "50" "1211" "0" "1211" "0" "c.1211G>T" "r.(?)" "p.(Gly404Val)" "" "0000804069" "00024091" "50" "1337" "0" "1337" "0" "c.1337C>G" "r.(?)" "p.(Thr446Ser)" "" "0000817832" "00024091" "90" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Ter)" "" "0000837047" "00024091" "50" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Ser640Phe)" "" "0000852232" "00024091" "50" "1990" "0" "1990" "0" "c.1990A>T" "r.(?)" "p.(Asn664Tyr)" "" "0000861611" "00024091" "30" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Arg29Lys)" "" "0000861612" "00024091" "30" "315" "0" "315" "0" "c.315A>G" "r.(?)" "p.(Pro105=)" "" "0000876799" "00024091" "70" "-41594" "0" "166167" "0" "c.-41594_*163545del" "r.0?" "p.0?" "" "0000972221" "00024091" "70" "376" "0" "376" "0" "c.376C>T" "r.[376c>u,326_448del]" "p.[Gln126*,His109_Gly150delinsArg]" "4" "0000972222" "00024091" "70" "376" "0" "376" "0" "c.376C>T" "r.[376c>u,326_448del]" "p.[Gln126*,His109_Gly150delinsArg]" "4" "0000978662" "00024091" "50" "1643" "0" "1643" "0" "c.1643A>G" "r.(?)" "p.(Lys548Arg)" "" "0000997819" "00024091" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Cys400Tyr)" "" "0001037466" "00024091" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Asp181Asn)" "" "0001037467" "00024091" "30" "2104" "6" "2104" "6" "c.2104+6G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000050504" "0000079484" "0000057142" "0000087430" "0000211061" "0000442479" "0000211115" "0000442544" "0000236548" "0000480513" "0000236549" "0000480514" "0000296004" "0000652693" "0000296005" "0000652694" "0000306375" "0000670063" "0000389039" "0000817832" "0000402810" "0000837047" "0000417203" "0000876799" "0000450259" "0000972221" "0000450260" "0000972222"