### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNASE1L3) # 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}}" "DNASE1L3" "deoxyribonuclease I-like 3" "3" "p14.3" "unknown" "NC_000003.11" "UD_136019805564" "" "https://www.LOVD.nl/DNASE1L3" "" "1" "2959" "1776" "602244" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-23 15:54:36" "00006" "2025-01-23 18:26:50" ## 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}}" "00006587" "DNASE1L3" "transcript variant 1" "002" "NM_004944.3" "" "NP_004935.1" "" "" "" "-97" "979" "918" "58196730" "58178353" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01417" "SLE" "lupus erythematosus, systemic, susceptibility to (SLE)" "AD" "152700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03640" "SLEB16" "lupus erythematosus, systemic, type 16 (SLEB-6)" "AR" "614420" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-23 17:54:41" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNASE1L3" "03640" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00460330" "" "" "" "3" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "Arab" "Fam1PatA1" "00460331" "" "" "00460330" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "sister" "F" "yes" "" "" "0" "" "" "Arab" "Fam1PatB3" "00460332" "" "" "00460330" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "brother" "M" "yes" "" "" "0" "" "" "Arab" "Fam1PatC2" "00460333" "" "" "" "4" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "Arab" "Fam2PatA" "00460334" "" "" "00460333" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "relative" "M" "yes" "" "" "0" "" "" "Arab" "Fam2PatB" "00460335" "" "" "00460333" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "relative" "F" "yes" "" "" "0" "" "" "Arab" "Fam2PatC" "00460336" "" "" "00460333" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "relative" "M" "yes" "" "" "0" "" "" "Arab" "Fam2PatD" "00460337" "" "" "" "2" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "Arab" "Fam3PatA1" "00460338" "" "" "00460337" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "brother" "M" "yes" "" "" "0" "" "" "Arab" "Fam3PatB2" "00460339" "" "" "" "2" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "4-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "Arab" "Fam4PatA2" "00460340" "" "" "00460339" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "sister" "F" "yes" "" "" "0" "" "" "Arab" "Fam4PatB1" "00460341" "" "" "" "4" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "Arab" "Fam5PatA6" "00460342" "" "" "00460341" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "brother" "M" "yes" "" "" "0" "" "" "Arab" "Fam5PatB2" "00460343" "" "" "00460341" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "brother" "M" "yes" "" "" "0" "" "" "Arab" "Fam5PatC1" "00460344" "" "" "00460341" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "brother" "M" "yes" "" "" "0" "" "" "Arab" "Fam5PatD4" "00460345" "" "" "" "2" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "Arab" "Fam6PatA1" "00460346" "" "" "00460345" "1" "" "00006" "{PMID:Al-Mayouf 2011:22019780}" "brother" "M" "yes" "" "" "0" "" "" "Arab" "Fam6PatB2" "00460347" "" "" "" "1" "" "00006" "{PMID:Volpi 2024:39059688}" "" "M" "" "Italy" "" "0" "" "" "white" "Pat1" "00460348" "" "" "" "1" "" "00006" "{PMID:Volpi 2024:39059688}" "" "M" "" "Italy" "" "0" "" "" "white" "Pat2" "00460349" "" "" "" "1" "" "00006" "{PMID:Volpi 2024:39059688}" "" "F" "" "Italy" "" "0" "" "" "white" "Pat3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 20 "{{individualid}}" "{{diseaseid}}" "00460330" "01417" "00460331" "01417" "00460332" "01417" "00460333" "01417" "00460334" "01417" "00460335" "01417" "00460336" "01417" "00460337" "01417" "00460338" "01417" "00460339" "01417" "00460340" "01417" "00460341" "01417" "00460342" "01417" "00460343" "01417" "00460344" "01417" "00460345" "01417" "00460346" "01417" "00460347" "01417" "00460348" "01417" "00460349" "01417" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01417, 03640 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000348062" "01417" "00460330" "00006" "Familial, autosomal recessive" "3.5y" "no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4" "2y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348063" "01417" "00460331" "00006" "Familial, autosomal recessive" "9.5y" "no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4" "4y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348064" "01417" "00460332" "00006" "Familial, autosomal recessive" "11y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4" "5y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348065" "01417" "00460333" "00006" "Familial, autosomal recessive" "11y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin" "2.5y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348066" "01417" "00460334" "00006" "Familial, autosomal recessive" "5y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin" "4.5y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348067" "01417" "00460335" "00006" "Familial, autosomal recessive" "10y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin" "6y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348068" "01417" "00460336" "00006" "Familial, autosomal recessive" "6y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin" "4.5y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348069" "01417" "00460337" "00006" "Familial, autosomal recessive" "4.5y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4" "3y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348070" "01417" "00460338" "00006" "Familial, autosomal recessive" "15y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4" "2y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348071" "01417" "00460339" "00006" "Familial, autosomal recessive" "12y" "no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4" "4.5y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348072" "01417" "00460340" "00006" "Familial, autosomal recessive" "9y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4" "8y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348073" "01417" "00460341" "00006" "Familial, autosomal recessive" "13y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and c4" "3y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348074" "01417" "00460342" "00006" "Familial, autosomal recessive" "10y" "nephritis; serology anti-nuclear antibody, low c3 and c4" "5y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348075" "01417" "00460343" "00006" "Familial, autosomal recessive" "22y" "nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4" "12y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348076" "01417" "00460344" "00006" "Familial, autosomal recessive" "24y" "no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4, anti-cardiolipin" "11y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348077" "01417" "00460345" "00006" "Familial, autosomal recessive" "14y" "no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4" "6y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348078" "01417" "00460346" "00006" "Familial, autosomal recessive" "12y" "no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4" "11y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348079" "01417" "00460347" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., kidney disease; interstitial lung disease, pleuritis, pericarditis, hepatosplenomegaly, ascites, recurrent fever; seroid-resistant nephrotic syndrome; serology positive antinuclear antibody (1:160), low C3 (76 mg/dL) and C4 (9 mg/dL); membranous nephropathy with focal endo- and extracapillary proliferative lesions; IF mesangial and subepithelial IgG +++, IgA++, IgM++, C3+, and C1q+; EM thickening of glomerular basement membrane, podocyte foot process effacement, subepithelial and mesangial electron-dense deposits; 17y-kidney transplant; graft survival 2y (graft loss due to acute rejection)" "5y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348080" "01417" "00460348" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., kidney disease, alopecia, interstitial lung disease, hepatosplenomegaly, ascites, urticarial macular rash, necrotic skin lesions, polyarthritis, lymphadenopathy, recurrent fever; acute kidney injury, nephrotic-range proteinuria, microhematuria, hypertension; serology positive antinuclear antibody (1:320), anti-CL and MPO-ANCA (>200 ELISA units/mL), low C3 (40 mg/dL) and C4 (8 mg/dL); IF 1st biopsy necrotizing crescentic glomerulonephritis; IF 2nd biopsy diffuse necrotizing crescentic glomerulonephritis with endo- and extracapillary proliferation; 16y-kidney transplant; graft survival 3y (functioning graft at last follow-up)" "7y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" "0000348081" "01417" "00460349" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., kidney disease, malar rash, urticarial macular rash, polyarthritis, recurrent fever; subnephrotic proteinuria, microhematuria; serology positive antinuclear antibody (1:640), anti-dsDNA, low C3 (53 mg/dL) and C4 (4 mg/dL); thrombotic microangiopathy and immune-complex glomerulonephritis with mesangial and extracapillary proliferation; IF mesangial, subepithelial and subendothelial IgG++, IgA+, IgM+, C3++, and C4+; 13y-kidney transplant; graft survival 3y (functioning graft at last follow-up)" "4y" "" "" "" "" "" "" "SLEB16" "systemic lupus erythematosus" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000461962" "00460330" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461963" "00460331" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461964" "00460332" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461965" "00460333" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461966" "00460334" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461967" "00460335" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461968" "00460336" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461969" "00460337" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461970" "00460338" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461971" "00460339" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461972" "00460340" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461973" "00460341" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461974" "00460342" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461975" "00460343" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461976" "00460344" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461977" "00460345" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461978" "00460346" "1" "00006" "00006" "2025-01-23 17:03:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461979" "00460347" "1" "00006" "00006" "2025-01-23 18:15:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000461980" "00460348" "1" "00006" "00006" "2025-01-23 18:15:23" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000461981" "00460349" "1" "00006" "00006" "2025-01-23 18:15:23" "00006" "2025-01-23 18:15:57" "arrayCGH;SBE" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000461979" "DNASE1L3" "0000461980" "DNASE1L3" "0000461981" "DNASE1L3" ## 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 = 31 "{{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}}" "0000267475" "0" "10" "3" "58179028" "58179028" "subst" "0.365093" "02325" "DNASE1L3_000001" "g.58179028T>C" "" "" "" "DNASE1L3(NM_004944.4):c.801+42A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.58193301T>C" "" "benign" "" "0000677077" "0" "30" "3" "58186727" "58186727" "subst" "0.00164437" "01943" "DNASE1L3_000002" "g.58186727C>T" "" "" "" "DNASE1L3(NM_004944.3):c.543G>A (p.A181=), DNASE1L3(NM_004944.4):c.543G>A (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689139" "0" "50" "3" "58178521" "58178521" "subst" "4.06974E-6" "02325" "DNASE1L3_000003" "g.58178521C>T" "" "" "" "DNASE1L3(NM_004944.4):c.811G>A (p.V271I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719591" "0" "30" "3" "58183676" "58183676" "subst" "2.04118E-5" "01943" "DNASE1L3_000004" "g.58183676G>A" "" "" "" "DNASE1L3(NM_004944.3):c.576C>T (p.A192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719592" "0" "30" "3" "58186769" "58186769" "subst" "0.000276839" "02326" "DNASE1L3_000005" "g.58186769C>T" "" "" "" "DNASE1L3(NM_004944.4):c.501G>A (p.E167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719593" "0" "50" "3" "58196522" "58196522" "subst" "0.000243782" "02325" "DNASE1L3_000006" "g.58196522C>G" "" "" "" "DNASE1L3(NM_004944.4):c.112G>C (p.D38H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719594" "0" "30" "3" "58196627" "58196627" "subst" "0.000101832" "01943" "DNASE1L3_000007" "g.58196627G>A" "" "" "" "DNASE1L3(NM_004944.3):c.7C>T (p.R3W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801359" "0" "30" "3" "58186727" "58186727" "subst" "0.00164437" "02326" "DNASE1L3_000002" "g.58186727C>T" "" "" "" "DNASE1L3(NM_004944.3):c.543G>A (p.A181=), DNASE1L3(NM_004944.4):c.543G>A (p.A181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911992" "0" "70" "3" "58191223" "58191223" "dup" "0" "02326" "DNASE1L3_000008" "g.58191223dup" "" "" "" "DNASE1L3(NM_004944.4):c.297dupA (p.E100Rfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923986" "0" "30" "3" "58196522" "58196522" "subst" "0.000243782" "02326" "DNASE1L3_000006" "g.58196522C>G" "" "" "" "DNASE1L3(NM_004944.4):c.112G>C (p.D38H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021338" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021339" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021340" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021341" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021342" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021343" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021344" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021345" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021346" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021347" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021348" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021349" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021350" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021351" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021352" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021353" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021354" "3" "90" "3" "58183611" "58183611" "del" "0" "00006" "DNASE1L3_000010" "g.58183611del" "" "{PMID:Al-Mayouf 2011:22019780}" "" "643delT" "" "Germline" "" "" "0" "" "" "g.58197884del" "" "pathogenic (recessive)" "" "0001021355" "3" "90" "3" "58191230" "58191231" "del" "0" "00006" "DNASE1L3_000011" "g.58191230_58191231del" "" "{PMID:Volpi 2024:39059688}" "" "290_291delCA" "" "Germline" "" "" "0" "" "" "g.58205503_58205504del" "" "pathogenic (recessive)" "" "0001021356" "3" "90" "3" "58191230" "58191231" "del" "0" "00006" "DNASE1L3_000011" "g.58191230_58191231del" "" "{PMID:Volpi 2024:39059688}" "" "290_291delCA" "" "Germline" "" "" "0" "" "" "g.58205503_58205504del" "" "pathogenic (recessive)" "" "0001021357" "1" "90" "3" "58191230" "58191231" "del" "0" "00006" "DNASE1L3_000011" "g.58191230_58191231del" "" "{PMID:Volpi 2024:39059688}" "" "290_291delCA" "" "Germline" "" "" "0" "" "" "g.58205503_58205504del" "" "pathogenic (recessive)" "" "0001021358" "2" "90" "3" "58186723" "58186836" "del" "0" "00006" "DNASE1L3_000009" "g.(?_58186723)_(58186836_?)del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_58200996)_(58201109_?)del" "" "pathogenic (recessive)" "" ## 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 DNASE1L3 ## Count = 31 "{{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}}" "0000267475" "00006587" "10" "801" "42" "801" "42" "c.801+42A>G" "r.(=)" "p.(=)" "" "0000677077" "00006587" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Ala181=)" "" "0000689139" "00006587" "50" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Val271Ile)" "" "0000719591" "00006587" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Ala192=)" "" "0000719592" "00006587" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Glu167=)" "" "0000719593" "00006587" "50" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Asp38His)" "" "0000719594" "00006587" "30" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Arg3Trp)" "" "0000801359" "00006587" "30" "543" "0" "543" "0" "c.543G>A" "r.(?)" "p.(Ala181=)" "" "0000911992" "00006587" "70" "297" "0" "297" "0" "c.297dup" "r.(?)" "p.(Glu100Argfs*22)" "" "0000923986" "00006587" "30" "112" "0" "112" "0" "c.112G>C" "r.(?)" "p.(Asp38His)" "" "0001021338" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021339" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021340" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021341" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021342" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021343" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021344" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021345" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021346" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021347" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021348" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021349" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021350" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021351" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021352" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021353" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021354" "00006587" "90" "643" "0" "643" "0" "c.643del" "r.(643del)" "p.(Trp215GlyfsTer2)" "" "0001021355" "00006587" "90" "290" "0" "291" "0" "c.290_291del" "r.(290_291dell)" "p.(Thr97IlefsTer2)" "" "0001021356" "00006587" "90" "290" "0" "291" "0" "c.290_291del" "r.(290_291dell)" "p.(Thr97IlefsTer2)" "" "0001021357" "00006587" "90" "290" "0" "291" "0" "c.290_291del" "r.(290_291dell)" "p.(Thr97IlefsTer2)" "" "0001021358" "00006587" "90" "434" "0" "546" "1" "c.(?_434)_(546+1_?)del" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000461962" "0001021338" "0000461963" "0001021339" "0000461964" "0001021340" "0000461965" "0001021341" "0000461966" "0001021342" "0000461967" "0001021343" "0000461968" "0001021344" "0000461969" "0001021345" "0000461970" "0001021346" "0000461971" "0001021347" "0000461972" "0001021348" "0000461973" "0001021349" "0000461974" "0001021350" "0000461975" "0001021351" "0000461976" "0001021352" "0000461977" "0001021353" "0000461978" "0001021354" "0000461979" "0001021355" "0000461980" "0001021356" "0000461981" "0001021357" "0000461981" "0001021358"