### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRIM63) # 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}}" "TRIM63" "tripartite motif containing 63, E3 ubiquitin protein ligase" "1" "p34-p33" "unknown" "LRG_757" "UD_136019884774" "" "https://www.LOVD.nl/TRIM63" "" "1" "16007" "84676" "606131" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TRIM63_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-06 09:34:17" "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}}" "00021853" "TRIM63" "tripartite motif containing 63, E3 ubiquitin protein ligase" "001" "NM_032588.3" "" "NP_115977.2" "" "" "" "-140" "1631" "1062" "26394125" "26377795" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00219398" "" "" "" "1" "" "00006" "{PMID:Jokela 2019:30372688}" "" "" "" "Finland" "" "0" "" "" "" "30372688-Pat" "00219399" "" "" "" "3" "" "00006" "{PMID:Olivé 2015:25801283}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "M" "" "Spain" "" "0" "" "" "" "25801283-FamPatIII4" "00219402" "" "" "" "1" "" "00006" "{PMID:Chen 2012:22821932}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "22821932-F1876PatII3" "00219403" "" "" "" "1" "" "00006" "{PMID:Chen 2012:22821932}" "2-generation family, 1 affected" "F" "" "United States" "" "0" "" "" "" "22821932-F1563PatII1" "00219404" "" "" "" "1" "" "00006" "{PMID:Chen 2012:22821932}" "3-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "22821932-F1062PatII1" "00219405" "" "" "" "2" "" "00006" "{PMID:Chen 2012:22821932}" "2-generation family, affected sister/brother" "F;M" "" "United States" "" "0" "" "" "" "22821932-F1300PatII1/2" "00219406" "" "" "" "1" "" "00006" "{PMID:Chen 2012:22821932}" "2-generation family, 1 affected heterozygous carriers" "M" "" "United States" "" "0" "" "" "" "22821932-F2778PatII1" "00219407" "" "" "" "1" "" "00006" "{PMID:Chen 2012:22821932}" "control" "" "" "United States" "" "0" "" "" "" "22821932-con" "00219408" "" "" "" "1" "" "00006" "{PMID:Ploski 2014:24436435}" "2-generation family, unaffected heterozygous carrier mother/son" "F;M" "" "Poland" "" "0" "" "" "" "24436435-Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00219398" "00351" "00219399" "00351" "00219402" "00351" "00219403" "00351" "00219404" "00351" "00219405" "00351" "00219406" "00351" "00219407" "00000" "00219408" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351 ## Count = 9 "{{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}}" "0000167936" "00351" "00219398" "00006" "Familial, autosomal recessive" "65y" "see paper; ..., 56y-elevated creatine kinase (3.5x), cardiac hypertrophy on ultrasound; mild skeletal myopathy" "56y" "" "transient ischemic attack" "" "" "" "" "" "" "cardiac hypertrophy" "" "0000167937" "00351" "00219399" "00006" "Familial, autosomal recessive" "60y" "20y-ECG hypertrophic cardiomyopathy; 4th decade slowly progressing weakness proximal muscles four limbs, difficulties on stairs and lifting heavy objects; ..." "15y" "" "dyspnoea upon exertion" "" "" "" "" "" "" "protein aggregate myopathies" "" "0000167940" "00351" "00219402" "00006" "Unknown" "" "see pape; ..." "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000167941" "00351" "00219403" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000167942" "00351" "00219404" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000167943" "00351" "00219405" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000167944" "00351" "00219406" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000167945" "00000" "00219407" "00006" "-" "" "no history of medical problems, normal ECG and echocardiogram" "" "" "" "" "" "" "" "" "" "" "" "0000167947" "00198" "00219408" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "?congenital long QT syndrome?" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000220470" "00219398" "1" "00006" "00006" "2019-02-09 08:58:07" "00006" "2019-02-11 20:34:26" "SEQ" "DNA" "" "265 known/suspected skeletal-/cardiomyopathy-related gene panel" "0000220471" "00219399" "1" "00006" "00006" "2019-02-09 18:18:07" "00006" "2019-02-09 18:34:14" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "candidate gene screening and WES" "0000220473" "00219402" "1" "00006" "00006" "2019-02-09 22:07:20" "" "" "SEQ" "DNA" "" "" "0000220474" "00219403" "1" "00006" "00006" "2019-02-09 22:14:35" "" "" "SEQ" "DNA" "" "" "0000220475" "00219404" "1" "00006" "00006" "2019-02-09 22:19:36" "" "" "SEQ" "DNA" "" "" "0000220476" "00219405" "1" "00006" "00006" "2019-02-09 22:26:10" "" "" "SEQ" "DNA" "" "" "0000220477" "00219406" "1" "00006" "00006" "2019-02-10 09:29:21" "" "" "SEQ" "DNA" "" "" "0000220478" "00219407" "1" "00006" "00006" "2019-02-10 09:34:21" "" "" "SEQ" "DNA" "" "" "0000220479" "00219408" "1" "00006" "00006" "2019-02-10 09:55:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000220470" "TRIM63" "0000220471" "TRIM54" "0000220471" "TRIM63" "0000220473" "TRIM63" "0000220474" "TRIM63" "0000220475" "TRIM63" "0000220476" "TRIM63" "0000220477" "TRIM63" "0000220478" "TRIM63" "0000220479" "TRIM63" ## 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 = 107 "{{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}}" "0000251824" "0" "30" "1" "26393956" "26393956" "subst" "4.0627E-6" "02326" "TRIM63_000010" "g.26393956A>C" "" "" "" "TRIM63(NM_032588.3):c.30T>G (p.D10E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067465A>C" "" "likely benign" "" "0000251988" "0" "30" "1" "26385098" "26385098" "subst" "0" "02326" "TRIM63_000004" "g.26385098A>G" "" "" "" "TRIM63(NM_032588.3):c.614T>C (p.V205A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26058607A>G" "" "likely benign" "" "0000314826" "0" "10" "1" "26378362" "26378362" "subst" "0.00440897" "02326" "TRIM63_000001" "g.26378362C>T" "" "" "" "TRIM63(NM_032588.3):c.*2G>A, TRIM63(NM_032588.4):c.*2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26051871C>T" "" "benign" "" "0000314827" "0" "10" "1" "26393851" "26393851" "subst" "0.00682408" "02326" "TRIM63_000009" "g.26393851C>G" "" "" "" "TRIM63(NM_032588.3):c.135G>C (p.R45=), TRIM63(NM_032588.4):c.135G>C (p.R45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067360C>G" "" "benign" "" "0000314828" "0" "30" "1" "26393843" "26393843" "subst" "0.00135548" "02326" "TRIM63_000008" "g.26393843G>A" "" "" "" "TRIM63(NM_032588.3):c.143C>T (p.A48V), TRIM63(NM_032588.4):c.143C>T (p.A48V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067352G>A" "" "likely benign" "" "0000314829" "0" "30" "1" "26393817" "26393817" "subst" "0.000110617" "02326" "TRIM63_000007" "g.26393817C>T" "" "" "" "TRIM63(NM_032588.3):c.159+10G>A, TRIM63(NM_032588.4):c.159+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26067326C>T" "" "likely benign" "" "0000314830" "0" "30" "1" "26387783" "26387783" "subst" "0.00117367" "02326" "TRIM63_000006" "g.26387783G>A" "" "" "" "TRIM63(NM_032588.3):c.375C>T (p.H125=), TRIM63(NM_032588.4):c.375C>T (p.H125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26061292G>A" "" "likely benign" "" "0000314831" "0" "10" "1" "26386750" "26386750" "subst" "0.00243734" "02326" "TRIM63_000005" "g.26386750C>T" "" "" "" "TRIM63(NM_032588.3):c.597+7G>A, TRIM63(NM_032588.4):c.597+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26060259C>T" "" "benign" "" "0000314832" "0" "30" "1" "26384907" "26384907" "subst" "0.0031653" "02326" "TRIM63_000003" "g.26384907C>T" "" "" "" "TRIM63(NM_032588.3):c.805G>A (p.(Glu269Lys), p.E269K), TRIM63(NM_032588.4):c.805G>A (p.E269K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26058416C>T" "" "likely benign" "" "0000314833" "0" "30" "1" "26383829" "26383829" "subst" "1.62737E-5" "02326" "TRIM63_000002" "g.26383829G>A" "" "" "" "TRIM63(NM_032588.3):c.855-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26057338G>A" "" "likely benign" "" "0000455424" "3" "90" "1" "26384973" "26384973" "subst" "0.000661918" "00006" "TRIM63_000011" "g.26384973G>A" "" "{PMID:Jokela 2019:30372688}" "" "" "" "Germline" "" "" "0" "" "" "g.26058482G>A" "" "likely pathogenic" "" "0000455430" "3" "90" "1" "26384973" "26384973" "subst" "0.000661918" "00006" "TRIM63_000011" "g.26384973G>A" "" "{PMID:Olivé 2015:25801283}" "" "" "" "Germline" "yes" "" "0" "" "" "g.26058482G>A" "" "likely pathogenic" "" "0000455442" "0" "70" "1" "26393843" "26393843" "subst" "0.00135548" "00006" "TRIM63_000008" "g.26393843G>A" "2/250 cases CMH" "{PMID:Chen 2012:22821932}" "" "" "not in 1090 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.26067352G>A" "" "likely pathogenic (dominant)" "" "0000455443" "0" "70" "1" "26393843" "26393843" "subst" "0.00135548" "00006" "TRIM63_000008" "g.26393843G>A" "2/250 cases CMH" "{PMID:Chen 2012:22821932}" "" "" "not in 1090 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.26067352G>A" "" "likely pathogenic (dominant)" "" "0000455444" "0" "70" "1" "26387768" "26387768" "subst" "5.27949E-5" "00006" "TRIM63_000012" "g.26387768G>C" "1/250 cases CMH" "{PMID:Chen 2012:22821932}" "" "" "not in 1090 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.26061277G>C" "" "likely pathogenic (dominant)" "" "0000455445" "1" "90" "1" "26384973" "26384973" "subst" "0.000661918" "00006" "TRIM63_000011" "g.26384973G>A" "2/250 cases CMH" "{PMID:Chen 2012:22821932}" "" "" "not in 1090 controls" "Germline" "" "" "0" "" "" "g.26058482G>A" "" "likely pathogenic (dominant)" "" "0000455446" "0" "90" "1" "26384973" "26384973" "subst" "0.000661918" "00006" "TRIM63_000011" "g.26384973G>A" "2/250 cases CMH" "{PMID:Chen 2012:22821932}" "" "" "not in 1090 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.26058482G>A" "" "likely pathogenic (dominant)" "" "0000455447" "0" "50" "1" "26386771" "26386771" "subst" "1.21923E-5" "00006" "TRIM63_000013" "g.26386771G>A" "1/339 controls" "{PMID:Chen 2012:22821932}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.26060280G>A" "" "VUS" "" "0000455448" "0" "90" "1" "26393843" "26393843" "subst" "0.00135548" "00006" "TRIM63_000008" "g.26393843G>A" "" "{PMID:Chen 2012:22821932}" "" "" "FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.60 reduced autoubiquitination; other assays performed as well" "In vitro (cloned)" "" "" "0" "" "" "g.26067352G>A" "" "NA" "" "0000455449" "0" "90" "1" "26387768" "26387768" "subst" "5.27949E-5" "00006" "TRIM63_000012" "g.26387768G>C" "" "{PMID:Chen 2012:22821932}" "" "" "FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.70 reduced autoubiquitination; other assays performed as well" "In vitro (cloned)" "" "" "0" "" "" "g.26061277G>C" "" "NA" "" "0000455450" "0" "90" "1" "26384973" "26384973" "subst" "0.000661918" "00006" "TRIM63_000011" "g.26384973G>A" "" "{PMID:Chen 2012:22821932}" "" "" "FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed near complete loss of autoubiquitination; other assays performed as well" "In vitro (cloned)" "" "" "0" "" "" "g.26058482G>A" "" "NA" "" "0000455451" "0" "90" "1" "26393843" "26393843" "subst" "0.00135548" "00006" "TRIM63_000008" "g.26393843G>A" "" "{PMID:Chen 2012:22821932}" "" "" "FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.60 reduced autoubiquitination; other assays performed as well" "In vitro (cloned)" "" "" "0" "" "" "g.26067352G>A" "" "NA" "" "0000455452" "0" "90" "1" "26387768" "26387768" "subst" "5.27949E-5" "00006" "TRIM63_000012" "g.26387768G>C" "" "{PMID:Chen 2012:22821932}" "" "" "FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed 0.70 reduced autoubiquitination; other assays performed as well" "In vitro (cloned)" "" "" "0" "" "" "g.26061277G>C" "" "NA" "" "0000455453" "0" "90" "1" "26384973" "26384973" "subst" "0.000661918" "00006" "TRIM63_000011" "g.26384973G>A" "" "{PMID:Chen 2012:22821932}" "" "" "FLAG-tagged cDNA expression cloning and co-IP in HeLa cells showed near complete loss of autoubiquitination; other assays performed as well" "In vitro (cloned)" "" "" "0" "" "" "g.26058482G>A" "" "NA" "" "0000455454" "21" "50" "1" "26384973" "26384973" "subst" "0.000661918" "00006" "TRIM63_000011" "g.26384973G>A" "" "{PMID:Ploski 2014:24436435}" "" "" "exclude variant as dominant pathogenic" "Germline" "" "rs148395034" "0" "" "" "g.26058482G>A" "" "VUS" "" "0000506911" "0" "30" "1" "26383780" "26383780" "subst" "8.1217E-6" "01943" "TRIM63_000014" "g.26383780G>A" "" "" "" "TRIM63(NM_032588.3):c.893C>T (p.T298I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26057289G>A" "" "likely benign" "" "0000506912" "0" "30" "1" "26384973" "26384973" "subst" "0.000661918" "02326" "TRIM63_000011" "g.26384973G>A" "" "" "" "TRIM63(NM_032588.3):c.739C>T (p.Q247*, p.(Gln247*)), TRIM63(NM_032588.4):c.739C>T (p.Q247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058482G>A" "" "likely benign" "" "0000506913" "0" "30" "1" "26385068" "26385068" "subst" "0.000293043" "01943" "TRIM63_000015" "g.26385068G>A" "" "" "" "TRIM63(NM_032588.3):c.644C>T (p.T215M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058577G>A" "" "likely benign" "" "0000506914" "0" "30" "1" "26385068" "26385068" "subst" "0.000293043" "02326" "TRIM63_000015" "g.26385068G>A" "" "" "" "TRIM63(NM_032588.3):c.644C>T (p.T215M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058577G>A" "" "likely benign" "" "0000506915" "0" "30" "1" "26385103" "26385103" "subst" "4.09192E-6" "01943" "TRIM63_000016" "g.26385103G>T" "" "" "" "TRIM63(NM_032588.3):c.609C>A (p.H203Q), TRIM63(NM_032588.4):c.609C>A (p.H203Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058612G>T" "" "likely benign" "" "0000506918" "0" "30" "1" "26387783" "26387783" "subst" "0.00117367" "01943" "TRIM63_000006" "g.26387783G>A" "" "" "" "TRIM63(NM_032588.3):c.375C>T (p.H125=), TRIM63(NM_032588.4):c.375C>T (p.H125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26061292G>A" "" "likely benign" "" "0000506919" "0" "30" "1" "26392828" "26392828" "subst" "5.69036E-5" "02326" "TRIM63_000018" "g.26392828C>G" "" "" "" "TRIM63(NM_032588.3):c.263G>C (p.G88A), TRIM63(NM_032588.4):c.263G>C (p.G88A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066337C>G" "" "likely benign" "" "0000506920" "0" "50" "1" "26392835" "26392835" "subst" "2.04138E-5" "01943" "TRIM63_000019" "g.26392835G>A" "" "" "" "TRIM63(NM_032588.3):c.256C>T (p.R86C), TRIM63(NM_032588.4):c.256C>T (p.R86C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066344G>A" "" "VUS" "" "0000506921" "0" "30" "1" "26392929" "26392929" "subst" "0.00120089" "02326" "TRIM63_000020" "g.26392929A>C" "" "" "" "TRIM63(NM_032588.3):c.162T>G (p.A54=), TRIM63(NM_032588.4):c.162T>G (p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066438A>C" "" "likely benign" "" "0000506922" "0" "30" "1" "26393843" "26393843" "subst" "0.00135548" "01943" "TRIM63_000008" "g.26393843G>A" "" "" "" "TRIM63(NM_032588.3):c.143C>T (p.A48V), TRIM63(NM_032588.4):c.143C>T (p.A48V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26067352G>A" "" "likely benign" "" "0000506923" "0" "30" "1" "26393872" "26393872" "subst" "2.03186E-5" "02326" "TRIM63_000021" "g.26393872C>T" "" "" "" "TRIM63(NM_032588.3):c.114G>A (p.P38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26067381C>T" "" "likely benign" "" "0000506924" "0" "30" "1" "26393893" "26393893" "subst" "0.000606164" "02326" "TRIM63_000022" "g.26393893G>A" "" "" "" "TRIM63(NM_032588.3):c.93C>T (p.T31=), TRIM63(NM_032588.4):c.93C>T (p.T31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26067402G>A" "" "likely benign" "" "0000605620" "0" "10" "1" "26378362" "26378362" "subst" "0.00440897" "02327" "TRIM63_000001" "g.26378362C>T" "" "" "" "TRIM63(NM_032588.3):c.*2G>A, TRIM63(NM_032588.4):c.*2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26051871C>T" "" "benign" "" "0000605621" "0" "30" "1" "26378395" "26378396" "del" "0" "02327" "SLC30A2_000002" "g.26378395_26378396del" "" "" "" "TRIM63(NM_032588.3):c.1052-21_1052-20delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26051904_26051905del" "" "likely benign" "" "0000605622" "0" "30" "1" "26378395" "26378396" "del" "0" "02326" "SLC30A2_000002" "g.26378395_26378396del" "" "" "" "TRIM63(NM_032588.3):c.1052-21_1052-20delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26051904_26051905del" "" "likely benign" "" "0000605625" "0" "50" "1" "26384973" "26384973" "subst" "0.000661918" "01943" "TRIM63_000011" "g.26384973G>A" "" "" "" "TRIM63(NM_032588.3):c.739C>T (p.Q247*, p.(Gln247*)), TRIM63(NM_032588.4):c.739C>T (p.Q247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058482G>A" "" "VUS" "" "0000605626" "0" "10" "1" "26385003" "26385003" "subst" "0.18401" "02327" "TRIM63_000024" "g.26385003T>C" "" "" "" "TRIM63(NM_032588.4):c.709A>G (p.K237E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058512T>C" "" "benign" "" "0000605627" "0" "30" "1" "26385017" "26385017" "subst" "1.62447E-5" "02327" "TRIM63_000025" "g.26385017G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058526G>A" "" "likely benign" "" "0000605628" "0" "30" "1" "26385082" "26385082" "subst" "0" "02327" "TRIM63_000026" "g.26385082G>T" "" "" "" "TRIM63(NM_032588.4):c.630C>A (p.S210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058591G>T" "" "likely benign" "" "0000605629" "0" "30" "1" "26385103" "26385103" "subst" "4.09192E-6" "02327" "TRIM63_000016" "g.26385103G>T" "" "" "" "TRIM63(NM_032588.3):c.609C>A (p.H203Q), TRIM63(NM_032588.4):c.609C>A (p.H203Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26058612G>T" "" "likely benign" "" "0000605630" "0" "30" "1" "26386750" "26386750" "subst" "0.00243734" "01943" "TRIM63_000005" "g.26386750C>T" "" "" "" "TRIM63(NM_032588.3):c.597+7G>A, TRIM63(NM_032588.4):c.597+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26060259C>T" "" "likely benign" "" "0000605631" "0" "30" "1" "26386750" "26386750" "subst" "0.00243734" "02327" "TRIM63_000005" "g.26386750C>T" "" "" "" "TRIM63(NM_032588.3):c.597+7G>A, TRIM63(NM_032588.4):c.597+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26060259C>T" "" "likely benign" "" "0000605632" "0" "50" "1" "26386794" "26386794" "subst" "0" "02327" "TRIM63_000027" "g.26386794A>G" "" "" "" "TRIM63(NM_032588.4):c.560T>C (p.I187T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26060303A>G" "" "VUS" "" "0000605633" "0" "50" "1" "26386806" "26386806" "subst" "0" "01943" "TRIM63_000028" "g.26386806C>A" "" "" "" "TRIM63(NM_032588.3):c.548G>T (p.R183L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26060315C>A" "" "VUS" "" "0000605634" "0" "30" "1" "26386817" "26386817" "subst" "7.71787E-5" "02327" "TRIM63_000029" "g.26386817C>T" "" "" "" "TRIM63(NM_032588.4):c.537G>A (p.A179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26060326C>T" "" "likely benign" "" "0000605635" "0" "50" "1" "26387625" "26387625" "subst" "4.98306E-5" "02327" "TRIM63_000030" "g.26387625A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26061134A>T" "" "VUS" "" "0000605636" "0" "30" "1" "26392755" "26392755" "subst" "8.13478E-6" "01943" "TRIM63_000031" "g.26392755C>T" "" "" "" "TRIM63(NM_032588.3):c.332+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066264C>T" "" "likely benign" "" "0000605637" "0" "10" "1" "26392824" "26392824" "subst" "0.0545404" "02327" "TRIM63_000032" "g.26392824C>A" "" "" "" "TRIM63(NM_032588.4):c.267G>T (p.V89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066333C>A" "" "benign" "" "0000605638" "0" "50" "1" "26392834" "26392834" "subst" "0" "02327" "TRIM63_000033" "g.26392834C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066343C>A" "" "VUS" "" "0000605639" "0" "30" "1" "26392870" "26392870" "subst" "0.000126909" "02327" "TRIM63_000034" "g.26392870C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26066379C>T" "" "likely benign" "" "0000605640" "0" "30" "1" "26393851" "26393851" "subst" "0.00682408" "02327" "TRIM63_000009" "g.26393851C>G" "" "" "" "TRIM63(NM_032588.3):c.135G>C (p.R45=), TRIM63(NM_032588.4):c.135G>C (p.R45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26067360C>G" "" "likely benign" "" "0000675799" "0" "50" "1" "26392834" "26392834" "subst" "1.21961E-5" "02326" "TRIM63_000035" "g.26392834C>T" "" "" "" "TRIM63(NM_032588.3):c.257G>A (p.R86H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688122" "0" "30" "1" "26384986" "26384986" "subst" "6.09097E-5" "01943" "TRIM63_000036" "g.26384986G>C" "" "" "" "TRIM63(NM_032588.3):c.726C>G (p.I242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717402" "0" "50" "1" "26387820" "26387820" "subst" "0.00021149" "01943" "TRIM63_000037" "g.26387820G>A" "" "" "" "TRIM63(NM_032588.3):c.338C>T (p.P113L), TRIM63(NM_032588.4):c.338C>T (p.P113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717403" "0" "30" "1" "26392785" "26392785" "subst" "0.000280303" "01943" "TRIM63_000038" "g.26392785G>A" "" "" "" "TRIM63(NM_032588.3):c.306C>T (p.I102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717404" "0" "30" "1" "26392830" "26392830" "subst" "2.03237E-5" "01943" "TRIM63_000039" "g.26392830G>A" "" "" "" "TRIM63(NM_032588.3):c.261C>T (p.H87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717405" "0" "70" "1" "26392867" "26392867" "subst" "0.000102123" "01943" "TRIM63_000040" "g.26392867C>T" "" "" "" "TRIM63(NM_032588.3):c.224G>A (p.C75Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000717406" "0" "50" "1" "26393883" "26393883" "subst" "0" "02326" "TRIM63_000041" "g.26393883C>T" "" "" "" "TRIM63(NM_032588.3):c.103G>A (p.V35I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717407" "0" "70" "1" "26393918" "26393918" "subst" "3.24973E-5" "01943" "TRIM63_000042" "g.26393918C>T" "" "" "" "TRIM63(NM_032588.3):c.68G>A (p.C23Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799286" "0" "50" "1" "26384973" "26384973" "subst" "0.000661918" "01804" "TRIM63_000011" "g.26384973G>A" "" "" "" "TRIM63(NM_032588.3):c.739C>T (p.Q247*, p.(Gln247*)), TRIM63(NM_032588.4):c.739C>T (p.Q247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848690" "0" "30" "1" "26384890" "26384890" "subst" "3.67101E-5" "01943" "TRIM63_000043" "g.26384890G>A" "" "" "" "TRIM63(NM_032588.3):c.822C>T (p.T274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848691" "0" "30" "1" "26386799" "26386799" "subst" "0" "01943" "TRIM63_000044" "g.26386799C>T" "" "" "" "TRIM63(NM_032588.3):c.555G>A (p.Q185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857431" "0" "50" "1" "26392828" "26392828" "subst" "5.69036E-5" "01943" "TRIM63_000018" "g.26392828C>G" "" "" "" "TRIM63(NM_032588.3):c.263G>C (p.G88A), TRIM63(NM_032588.4):c.263G>C (p.G88A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857432" "0" "50" "1" "26392871" "26392871" "subst" "3.68207E-5" "01943" "TRIM63_000045" "g.26392871G>A" "" "" "" "TRIM63(NM_032588.3):c.220C>T (p.R74C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857433" "0" "50" "1" "26392874" "26392874" "subst" "0" "01943" "TRIM63_000046" "g.26392874A>C" "" "" "" "TRIM63(NM_032588.3):c.217T>G (p.F73V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883367" "0" "10" "1" "26384907" "26384907" "subst" "0.0031653" "02330" "TRIM63_000003" "g.26384907C>T" "" "" "" "TRIM63(NM_032588.3):c.805G>A (p.(Glu269Lys), p.E269K), TRIM63(NM_032588.4):c.805G>A (p.E269K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883368" "0" "30" "1" "26384907" "26384907" "subst" "0.0031653" "01804" "TRIM63_000003" "g.26384907C>T" "" "" "" "TRIM63(NM_032588.3):c.805G>A (p.(Glu269Lys), p.E269K), TRIM63(NM_032588.4):c.805G>A (p.E269K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883369" "0" "10" "1" "26385003" "26385003" "subst" "0.18401" "02330" "TRIM63_000024" "g.26385003T>C" "" "" "" "TRIM63(NM_032588.4):c.709A>G (p.K237E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883370" "0" "50" "1" "26386863" "26386863" "subst" "2.44099E-5" "02330" "TRIM63_000047" "g.26386863G>C" "" "" "" "TRIM63(NM_032588.4):c.502-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883371" "0" "10" "1" "26392824" "26392824" "subst" "0.0545404" "02330" "TRIM63_000032" "g.26392824C>A" "" "" "" "TRIM63(NM_032588.4):c.267G>T (p.V89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883372" "0" "10" "1" "26393974" "26393974" "subst" "0.0143891" "02330" "TRIM63_000048" "g.26393974C>T" "" "" "" "TRIM63(NM_032588.4):c.12G>A (p.K4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911039" "0" "10" "1" "26378362" "26378362" "subst" "0.00440897" "02330" "TRIM63_000001" "g.26378362C>T" "" "" "" "TRIM63(NM_032588.3):c.*2G>A, TRIM63(NM_032588.4):c.*2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911040" "0" "10" "1" "26380394" "26380394" "subst" "0.0106414" "02330" "SLC30A2_000003" "g.26380394C>T" "" "" "" "TRIM63(NM_032588.4):c.1041G>A (p.G347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911041" "0" "50" "1" "26380423" "26380423" "subst" "0.000269656" "02330" "SLC30A2_000004" "g.26380423C>A" "" "" "" "TRIM63(NM_032588.4):c.1012G>T (p.D338Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911042" "0" "10" "1" "26386750" "26386750" "subst" "0.00243734" "02330" "TRIM63_000005" "g.26386750C>T" "" "" "" "TRIM63(NM_032588.3):c.597+7G>A, TRIM63(NM_032588.4):c.597+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911043" "0" "50" "1" "26386771" "26386771" "subst" "1.21923E-5" "02330" "TRIM63_000013" "g.26386771G>A" "" "" "" "TRIM63(NM_032588.4):c.583C>T (p.R195C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911044" "0" "10" "1" "26386860" "26386860" "subst" "0.00580383" "02330" "TRIM63_000049" "g.26386860G>A" "" "" "" "TRIM63(NM_032588.4):c.502-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911046" "0" "50" "1" "26387741" "26387741" "subst" "0" "02330" "TRIM63_000050" "g.26387741C>T" "" "" "" "TRIM63(NM_032588.4):c.417G>A (p.V139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911047" "0" "70" "1" "26387759" "26387759" "subst" "0" "02330" "TRIM63_000051" "g.26387759G>T" "" "" "" "TRIM63(NM_032588.4):c.399C>A (p.Y133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911048" "0" "10" "1" "26392929" "26392929" "subst" "0.00120089" "02330" "TRIM63_000020" "g.26392929A>C" "" "" "" "TRIM63(NM_032588.3):c.162T>G (p.A54=), TRIM63(NM_032588.4):c.162T>G (p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911049" "0" "10" "1" "26393851" "26393851" "subst" "0.00682408" "02330" "TRIM63_000009" "g.26393851C>G" "" "" "" "TRIM63(NM_032588.3):c.135G>C (p.R45=), TRIM63(NM_032588.4):c.135G>C (p.R45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923159" "0" "30" "1" "26385059" "26385059" "subst" "0.000138269" "02330" "TRIM63_000052" "g.26385059G>A" "" "" "" "TRIM63(NM_032588.4):c.653C>T (p.A218V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923160" "0" "50" "1" "26385103" "26385103" "subst" "4.09192E-6" "02330" "TRIM63_000016" "g.26385103G>T" "" "" "" "TRIM63(NM_032588.3):c.609C>A (p.H203Q), TRIM63(NM_032588.4):c.609C>A (p.H203Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923161" "0" "30" "1" "26393843" "26393843" "subst" "0.00135548" "02330" "TRIM63_000008" "g.26393843G>A" "" "" "" "TRIM63(NM_032588.3):c.143C>T (p.A48V), TRIM63(NM_032588.4):c.143C>T (p.A48V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928154" "0" "10" "1" "26387783" "26387783" "subst" "0.00117367" "02330" "TRIM63_000006" "g.26387783G>A" "" "" "" "TRIM63(NM_032588.3):c.375C>T (p.H125=), TRIM63(NM_032588.4):c.375C>T (p.H125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928155" "0" "10" "1" "26393817" "26393817" "subst" "1.22908E-5" "02330" "TRIM63_000053" "g.26393817C>A" "" "" "" "TRIM63(NM_032588.4):c.159+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947202" "0" "10" "1" "26385016" "26385016" "subst" "0" "02330" "TRIM63_000054" "g.26385016C>A" "" "" "" "TRIM63(NM_032588.4):c.696G>T (p.T232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947203" "0" "10" "1" "26385067" "26385067" "subst" "2.44129E-5" "02330" "TRIM63_000055" "g.26385067C>T" "" "" "" "TRIM63(NM_032588.4):c.645G>A (p.T215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947204" "0" "50" "1" "26386770" "26386770" "subst" "1.21928E-5" "02330" "TRIM63_000056" "g.26386770C>T" "" "" "" "TRIM63(NM_032588.4):c.584G>A (p.R195H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947205" "0" "50" "1" "26386794" "26386794" "subst" "0" "02330" "TRIM63_000027" "g.26386794A>G" "" "" "" "TRIM63(NM_032588.4):c.560T>C (p.I187T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947206" "0" "50" "1" "26387820" "26387820" "subst" "0.00021149" "02330" "TRIM63_000037" "g.26387820G>A" "" "" "" "TRIM63(NM_032588.3):c.338C>T (p.P113L), TRIM63(NM_032588.4):c.338C>T (p.P113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947207" "0" "30" "1" "26393817" "26393817" "subst" "0.000110617" "02330" "TRIM63_000007" "g.26393817C>T" "" "" "" "TRIM63(NM_032588.3):c.159+10G>A, TRIM63(NM_032588.4):c.159+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000960996" "0" "10" "1" "26385129" "26385129" "subst" "0" "02330" "TRIM63_000057" "g.26385129C>A" "" "" "" "TRIM63(NM_032588.4):c.598-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973871" "0" "50" "1" "26385082" "26385082" "subst" "0" "02330" "TRIM63_000026" "g.26385082G>T" "" "" "" "TRIM63(NM_032588.4):c.630C>A (p.S210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024149" "0" "50" "1" "26384973" "26384973" "subst" "0.000661918" "02330" "TRIM63_000011" "g.26384973G>A" "" "" "" "TRIM63(NM_032588.3):c.739C>T (p.Q247*, p.(Gln247*)), TRIM63(NM_032588.4):c.739C>T (p.Q247*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024150" "0" "50" "1" "26386817" "26386817" "subst" "7.71787E-5" "02330" "TRIM63_000029" "g.26386817C>T" "" "" "" "TRIM63(NM_032588.4):c.537G>A (p.A179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024151" "0" "30" "1" "26392785" "26392785" "subst" "0.000280303" "02326" "TRIM63_000038" "g.26392785G>A" "" "" "" "TRIM63(NM_032588.3):c.306C>T (p.I102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024152" "0" "50" "1" "26392828" "26392828" "subst" "5.69036E-5" "02330" "TRIM63_000018" "g.26392828C>G" "" "" "" "TRIM63(NM_032588.3):c.263G>C (p.G88A), TRIM63(NM_032588.4):c.263G>C (p.G88A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024153" "0" "50" "1" "26392835" "26392835" "subst" "2.04138E-5" "02330" "TRIM63_000019" "g.26392835G>A" "" "" "" "TRIM63(NM_032588.3):c.256C>T (p.R86C), TRIM63(NM_032588.4):c.256C>T (p.R86C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024154" "0" "10" "1" "26393893" "26393893" "subst" "0.000606164" "02330" "TRIM63_000022" "g.26393893G>A" "" "" "" "TRIM63(NM_032588.3):c.93C>T (p.T31=), TRIM63(NM_032588.4):c.93C>T (p.T31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001030893" "0" "50" "1" "26386806" "26386806" "subst" "4.06233E-5" "03779" "TRIM63_000058" "g.26386806C>T" "" "" "" "" "" "Unknown" "" "rs139003247" "0" "" "" "" "" "VUS" "" "0001031927" "0" "10" "1" "26383840" "26383841" "del" "0" "02330" "TRIM63_000059" "g.26383840_26383841del" "" "" "" "TRIM63(NM_032588.4):c.855-19_855-18delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 TRIM63 ## Count = 107 "{{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}}" "0000251824" "00021853" "30" "30" "0" "30" "0" "c.30T>G" "r.(?)" "p.(Asp10Glu)" "" "0000251988" "00021853" "30" "614" "0" "614" "0" "c.614T>C" "r.(?)" "p.(Val205Ala)" "" "0000314826" "00021853" "10" "1064" "0" "1064" "0" "c.*2G>A" "r.(=)" "p.(=)" "" "0000314827" "00021853" "10" "135" "0" "135" "0" "c.135G>C" "r.(?)" "p.(Arg45=)" "" "0000314828" "00021853" "30" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000314829" "00021853" "30" "159" "10" "159" "10" "c.159+10G>A" "r.(=)" "p.(=)" "" "0000314830" "00021853" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(His125=)" "" "0000314831" "00021853" "10" "597" "7" "597" "7" "c.597+7G>A" "r.(=)" "p.(=)" "" "0000314832" "00021853" "30" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Glu269Lys)" "" "0000314833" "00021853" "30" "855" "-11" "855" "-11" "c.855-11C>T" "r.(=)" "p.(=)" "" "0000455424" "00021853" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247*)" "5" "0000455430" "00021853" "90" "739" "0" "739" "0" "c.739C>T" "r.0" "p.0" "" "0000455442" "00021853" "70" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000455443" "00021853" "70" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000455444" "00021853" "70" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Ile130Met)" "" "0000455445" "00021853" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247*)" "" "0000455446" "00021853" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247*)" "" "0000455447" "00021853" "50" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Cys)" "" "0000455448" "00021853" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.Ala48Val" "" "0000455449" "00021853" "90" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.Ile130Met" "" "0000455450" "00021853" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.Gln247*" "" "0000455451" "00021853" "90" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.Ala48Val" "" "0000455452" "00021853" "90" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.Ile130Met" "" "0000455453" "00021853" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.Gln247*" "" "0000455454" "00021853" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247*)" "" "0000506911" "00021853" "30" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Ile)" "" "0000506912" "00021853" "30" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247Ter)" "" "0000506913" "00021853" "30" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Thr215Met)" "" "0000506914" "00021853" "30" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Thr215Met)" "" "0000506915" "00021853" "30" "609" "0" "609" "0" "c.609C>A" "r.(?)" "p.(His203Gln)" "" "0000506918" "00021853" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(His125=)" "" "0000506919" "00021853" "30" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Gly88Ala)" "" "0000506920" "00021853" "50" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0000506921" "00021853" "30" "162" "0" "162" "0" "c.162T>G" "r.(?)" "p.(Ala54=)" "" "0000506922" "00021853" "30" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000506923" "00021853" "30" "114" "0" "114" "0" "c.114G>A" "r.(?)" "p.(Pro38=)" "" "0000506924" "00021853" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Thr31=)" "" "0000605620" "00021853" "10" "1064" "0" "1064" "0" "c.*2G>A" "r.(=)" "p.(=)" "" "0000605621" "00021853" "30" "1052" "-21" "1052" "-20" "c.1052-21_1052-20del" "r.(=)" "p.(=)" "" "0000605622" "00021853" "30" "1052" "-21" "1052" "-20" "c.1052-21_1052-20del" "r.(=)" "p.(=)" "" "0000605625" "00021853" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247Ter)" "" "0000605626" "00021853" "10" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Lys237Glu)" "" "0000605627" "00021853" "30" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Thr232Met)" "" "0000605628" "00021853" "30" "630" "0" "630" "0" "c.630C>A" "r.(?)" "p.(Ser210Arg)" "" "0000605629" "00021853" "30" "609" "0" "609" "0" "c.609C>A" "r.(?)" "p.(His203Gln)" "" "0000605630" "00021853" "30" "597" "7" "597" "7" "c.597+7G>A" "r.(=)" "p.(=)" "" "0000605631" "00021853" "30" "597" "7" "597" "7" "c.597+7G>A" "r.(=)" "p.(=)" "" "0000605632" "00021853" "50" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Ile187Thr)" "" "0000605633" "00021853" "50" "548" "0" "548" "0" "c.548G>T" "r.(?)" "p.(Arg183Leu)" "" "0000605634" "00021853" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Ala179=)" "" "0000605635" "00021853" "50" "501" "32" "501" "32" "c.501+32T>A" "r.(=)" "p.(=)" "" "0000605636" "00021853" "30" "332" "4" "332" "4" "c.332+4G>A" "r.spl?" "p.?" "" "0000605637" "00021853" "10" "267" "0" "267" "0" "c.267G>T" "r.(?)" "p.(Val89=)" "" "0000605638" "00021853" "50" "257" "0" "257" "0" "c.257G>T" "r.(?)" "p.(Arg86Leu)" "" "0000605639" "00021853" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74His)" "" "0000605640" "00021853" "30" "135" "0" "135" "0" "c.135G>C" "r.(?)" "p.(Arg45=)" "" "0000675799" "00021853" "50" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86His)" "" "0000688122" "00021853" "30" "726" "0" "726" "0" "c.726C>G" "r.(?)" "p.(Ile242Met)" "" "0000717402" "00021853" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000717403" "00021853" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Ile102=)" "" "0000717404" "00021853" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(His87=)" "" "0000717405" "00021853" "70" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Cys75Tyr)" "" "0000717406" "00021853" "50" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Val35Ile)" "" "0000717407" "00021853" "70" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Cys23Tyr)" "" "0000799286" "00021853" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247Ter)" "" "0000848690" "00021853" "30" "822" "0" "822" "0" "c.822C>T" "r.(?)" "p.(Thr274=)" "" "0000848691" "00021853" "30" "555" "0" "555" "0" "c.555G>A" "r.(?)" "p.(Gln185=)" "" "0000857431" "00021853" "50" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Gly88Ala)" "" "0000857432" "00021853" "50" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Cys)" "" "0000857433" "00021853" "50" "217" "0" "217" "0" "c.217T>G" "r.(?)" "p.(Phe73Val)" "" "0000883367" "00021853" "10" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Glu269Lys)" "" "0000883368" "00021853" "30" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Glu269Lys)" "" "0000883369" "00021853" "10" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Lys237Glu)" "" "0000883370" "00021853" "50" "502" "-11" "502" "-11" "c.502-11C>G" "r.(=)" "p.(=)" "" "0000883371" "00021853" "10" "267" "0" "267" "0" "c.267G>T" "r.(?)" "p.(Val89=)" "" "0000883372" "00021853" "10" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Lys4=)" "" "0000911039" "00021853" "10" "1064" "0" "1064" "0" "c.*2G>A" "r.(=)" "p.(=)" "" "0000911040" "00021853" "10" "1041" "0" "1041" "0" "c.1041G>A" "r.(?)" "p.(Gly347=)" "" "0000911041" "00021853" "50" "1012" "0" "1012" "0" "c.1012G>T" "r.(?)" "p.(Asp338Tyr)" "" "0000911042" "00021853" "10" "597" "7" "597" "7" "c.597+7G>A" "r.(=)" "p.(=)" "" "0000911043" "00021853" "50" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Cys)" "" "0000911044" "00021853" "10" "502" "-8" "502" "-8" "c.502-8C>T" "r.(=)" "p.(=)" "" "0000911046" "00021853" "50" "417" "0" "417" "0" "c.417G>A" "r.(?)" "p.(Val139=)" "" "0000911047" "00021853" "70" "399" "0" "399" "0" "c.399C>A" "r.(?)" "p.(Tyr133*)" "" "0000911048" "00021853" "10" "162" "0" "162" "0" "c.162T>G" "r.(?)" "p.(Ala54=)" "" "0000911049" "00021853" "10" "135" "0" "135" "0" "c.135G>C" "r.(?)" "p.(Arg45=)" "" "0000923159" "00021853" "30" "653" "0" "653" "0" "c.653C>T" "r.(?)" "p.(Ala218Val)" "" "0000923160" "00021853" "50" "609" "0" "609" "0" "c.609C>A" "r.(?)" "p.(His203Gln)" "" "0000923161" "00021853" "30" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ala48Val)" "" "0000928154" "00021853" "10" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(His125=)" "" "0000928155" "00021853" "10" "159" "10" "159" "10" "c.159+10G>T" "r.(=)" "p.(=)" "" "0000947202" "00021853" "10" "696" "0" "696" "0" "c.696G>T" "r.(?)" "p.(=)" "" "0000947203" "00021853" "10" "645" "0" "645" "0" "c.645G>A" "r.(?)" "p.(=)" "" "0000947204" "00021853" "50" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195His)" "" "0000947205" "00021853" "50" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Ile187Thr)" "" "0000947206" "00021853" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Pro113Leu)" "" "0000947207" "00021853" "30" "159" "10" "159" "10" "c.159+10G>A" "r.(=)" "p.(=)" "" "0000960996" "00021853" "10" "598" "-15" "598" "-15" "c.598-15G>T" "r.(=)" "p.(=)" "" "0000973871" "00021853" "50" "630" "0" "630" "0" "c.630C>A" "r.(?)" "p.(Ser210Arg)" "" "0001024149" "00021853" "50" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(Gln247Ter)" "" "0001024150" "00021853" "50" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Ala179=)" "" "0001024151" "00021853" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Ile102=)" "" "0001024152" "00021853" "50" "263" "0" "263" "0" "c.263G>C" "r.(?)" "p.(Gly88Ala)" "" "0001024153" "00021853" "50" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Cys)" "" "0001024154" "00021853" "10" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Thr31=)" "" "0001030893" "00021853" "50" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Arg183His)" "" "0001031927" "00021853" "10" "855" "-19" "855" "-18" "c.855-19_855-18del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000220470" "0000455424" "0000220471" "0000455430" "0000220473" "0000455442" "0000220474" "0000455443" "0000220475" "0000455444" "0000220476" "0000455445" "0000220477" "0000455446" "0000220478" "0000455447" "0000220479" "0000455454"