### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UMOD) # 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}}" "UMOD" "uromodulin" "16" "p12.3" "unknown" "NG_008151.1" "UD_132118505766" "" "https://www.LOVD.nl/UMOD" "" "1" "12559" "7369" "191845" "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/UMOD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-05 12:55:04" "00006" "2026-04-09 15:20:12" ## 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}}" "00025252" "UMOD" "transcript variant 1" "004" "NM_003361.3" "" "NP_003352.2" "" "" "" "-292" "2186" "1923" "20364200" "20344373" "00006" "2017-12-05 12:53:26" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01463" "ADTKD1;HNFJ1;MCKD2" "kidney disease, tubulointerstitial, autosomal dominant, type 1" "AD" "162000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-04-09 10:43:37" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "07257" "nephritis/nephropathy" "nephritis/nephropathy" "" "" "" "" "" "00006" "2026-04-09 14:58:45" "00006" "2026-04-09 15:21:23" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "UMOD" "01463" ## Individuals ## Do not remove or alter this header ## ## Count = 57 "{{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}}" "00132983" "" "" "" "1" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "M" "" "" "" "0" "" "" "" "29100090-FamDC5" "00291400" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291401" "" "" "" "172" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291403" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304507" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00475333" "" "" "" "7" "" "04977" "" "3-generation family, 7 affecteds (4F, 3M)" "F" "yes" "China" "36y" "0" "yes" "no" "Asia" "24CA05642" "00475336" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamV2" "00475337" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamF2" "00475338" "" "" "" "3" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "5-generation family, 3 affected (2F, M)" "" "" "Belgium" "" "0" "" "" "" "Fam8;FamD2" "00475339" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamS1" "00475340" "" "" "" "3" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "4-generation family, 3 affected (F, 2M)" "" "" "Belgium" "" "0" "" "" "" "Fam6;FamD1" "00475341" "" "" "" "4" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "3-generation family, 4 affected (2F, 2M)" "" "" "Italy" "" "0" "" "" "" "Fam5;FamB1" "00475342" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamF4" "00475343" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamL3" "00475344" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamF3" "00475345" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamG6" "00475346" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamC3" "00475347" "" "" "" "4" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "4-generation family, 4 affected (3F, M)" "" "" "France" "" "0" "" "" "" "Fam4;FamL5" "00475348" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamW1" "00475349" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamH1" "00475350" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamB2" "00475351" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamP1" "00475352" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamL1" "00475353" "" "" "" "13" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "5-generation family, 13 affected (8F, 5M)" "" "" "Belgium" "" "0" "" "" "" "Fam1;FamJ1" "00475354" "" "" "" "4" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "3-generation family, 4 affected (4M)" "" "" "France" "" "0" "" "" "" "Fam3;FamG3" "00475355" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamG1" "00475356" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamR2" "00475357" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamP2" "00475358" "" "" "" "3" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "3-generation family, 4 affected (F, 3M)" "" "" "Morocco" "" "0" "" "" "" "Fam7;FamA1" "00475359" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamD4" "00475360" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamP3" "00475361" "" "" "" "4" "" "00006" "{PMID:Bollee 2011:21868615}" "3-generation family, 4 affected (3F, M)" "" "" "" "" "0" "" "" "" "Fam11;FamB3" "00475362" "" "" "" "12" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "4-generation family, 12 affected (6F, 6M)" "" "" "France" "" "0" "" "" "" "Fam2;FamP4" "00475363" "" "" "" "9" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "4-generation family, 9 affected (4F, 5M)" "" "" "France" "" "0" "" "" "" "Fam9FamG4" "00475364" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamL2" "00475365" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamL6" "00475366" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamL4" "00475367" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamB4" "00475368" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamD3" "00475369" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamR1" "00475370" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamV1" "00475371" "" "" "" "3" "" "00006" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "2-generation family, 3 affected (F, 2M)" "" "" "France" "" "0" "" "" "" "Fam10;FamG2" "00475372" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamP5" "00475373" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamS2" "00475374" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamG5" "00475375" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamF1" "00475376" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamL7" "00475377" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamL8" "00475378" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamC2" "00475379" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamM1" "00475380" "" "" "" "1" "" "00006" "{PMID:Bollee 2011:21868615}" "" "" "" "" "" "0" "" "" "" "FamC1" "00475381" "" "" "" "1" "" "00006" "{PMID:Williams 2009:19465746}" "" "" "" "" "" "0" "" "" "" "Fam6" "00475382" "" "" "" "1" "" "00006" "{PMID:Williams 2009:19465746}" "" "" "" "" "" "0" "" "" "" "Fam11" "00475383" "" "" "" "3" "" "00006" "{PMID:Williams 2009:19465746}" "2-generation family, affected father/2 daughters (2F, M)" "F;M" "" "" "" "0" "" "" "" "Fam5" "00475384" "" "" "" "1" "" "00006" "{PMID:Williams 2009:19465746}" "" "" "" "" "" "0" "" "" "" "Fam15" "00475385" "" "" "" "1" "" "00006" "{PMID:Williams 2009:19465746}" "" "" "" "" "" "0" "" "" "" "Fam9" "00475386" "" "" "" "1" "" "00006" "{PMID:Williams 2009:19465746}" "" "" "" "" "" "0" "" "" "" "Fam20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 57 "{{individualid}}" "{{diseaseid}}" "00132983" "05342" "00291400" "00198" "00291401" "00198" "00291403" "00198" "00304507" "00198" "00475333" "01463" "00475336" "07257" "00475337" "07257" "00475338" "07257" "00475339" "07257" "00475340" "07257" "00475341" "07257" "00475342" "07257" "00475343" "07257" "00475344" "07257" "00475345" "07257" "00475346" "07257" "00475347" "07257" "00475348" "07257" "00475349" "07257" "00475350" "07257" "00475351" "07257" "00475352" "07257" "00475353" "07257" "00475354" "07257" "00475355" "07257" "00475356" "07257" "00475357" "07257" "00475358" "07257" "00475359" "07257" "00475360" "07257" "00475361" "07257" "00475362" "07257" "00475363" "07257" "00475364" "07257" "00475365" "07257" "00475366" "07257" "00475367" "07257" "00475368" "07257" "00475369" "07257" "00475370" "07257" "00475371" "07257" "00475372" "07257" "00475373" "07257" "00475374" "07257" "00475375" "07257" "00475376" "07257" "00475377" "07257" "00475378" "07257" "00475379" "07257" "00475380" "07257" "00475381" "07257" "00475382" "07257" "00475383" "07257" "00475384" "07257" "00475385" "07257" "00475386" "07257" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01463, 05342, 07257 ## Count = 53 "{{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}}" "0000105744" "05342" "00132983" "00006" "Familial" "" "CAKUT, renal hypoplasia bilateral, vesicoureteral reflux. hydronephrosis; hyperuricaemia" "" "" "" "" "" "" "" "" "" "" "" "0000360009" "01463" "00475333" "04977" "Familial, autosomal dominant" "36y" "" "36y" "36y" "acute arthritis attack" "" "" "" "" "" "ADTKD1" "Gouty arthritis" "" "0000360011" "07257" "00475336" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360012" "07257" "00475337" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360013" "07257" "00475338" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360014" "07257" "00475339" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360015" "07257" "00475340" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360016" "07257" "00475341" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360017" "07257" "00475342" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360018" "07257" "00475343" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360019" "07257" "00475344" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360020" "07257" "00475345" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360021" "07257" "00475346" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360022" "07257" "00475347" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360023" "07257" "00475348" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360024" "07257" "00475349" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360025" "07257" "00475350" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360026" "07257" "00475351" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360027" "07257" "00475352" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360028" "07257" "00475353" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360029" "07257" "00475354" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360030" "07257" "00475355" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360031" "07257" "00475356" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360032" "07257" "00475357" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360033" "07257" "00475358" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360034" "07257" "00475359" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360035" "07257" "00475360" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360036" "07257" "00475361" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360037" "07257" "00475362" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360038" "07257" "00475363" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360039" "07257" "00475364" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360040" "07257" "00475365" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360041" "07257" "00475366" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360042" "07257" "00475367" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360043" "07257" "00475368" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360044" "07257" "00475369" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360045" "07257" "00475370" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360046" "07257" "00475371" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360047" "07257" "00475372" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360048" "07257" "00475373" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360049" "07257" "00475374" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360050" "07257" "00475375" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360051" "07257" "00475376" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360052" "07257" "00475377" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360053" "07257" "00475378" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360054" "07257" "00475379" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360055" "07257" "00475380" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "tubulointerstitial nephritis" "" "0000360056" "07257" "00475381" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "juvenile hyperuricaemic nephropathy" "" "0000360057" "07257" "00475382" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "juvenile hyperuricaemic nephropathy" "" "0000360058" "07257" "00475383" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "juvenile hyperuricaemic nephropathy" "" "0000360059" "07257" "00475384" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "juvenile hyperuricaemic nephropathy" "" "0000360060" "07257" "00475385" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "juvenile hyperuricaemic nephropathy" "" "0000360061" "07257" "00475386" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "ADTKD1" "juvenile hyperuricaemic nephropathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 57 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133817" "00132983" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000292568" "00291400" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292569" "00291401" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292571" "00291403" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305636" "00304507" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000476978" "00475333" "1" "04977" "04977" "2026-04-09 05:53:03" "" "" "?" "DNA" "peripheral blood" "whole exome sequencing" "0000476980" "00475336" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476981" "00475337" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476982" "00475338" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476983" "00475339" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476984" "00475340" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476985" "00475341" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476986" "00475342" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476987" "00475343" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476988" "00475344" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476989" "00475345" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476990" "00475346" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476991" "00475347" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476992" "00475348" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476993" "00475349" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476994" "00475350" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476995" "00475351" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476996" "00475352" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476997" "00475353" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476998" "00475354" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000476999" "00475355" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477000" "00475356" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477001" "00475357" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477002" "00475358" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477003" "00475359" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477004" "00475360" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477005" "00475361" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477006" "00475362" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477007" "00475363" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477008" "00475364" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477009" "00475365" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477010" "00475366" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477011" "00475367" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477012" "00475368" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477013" "00475369" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477014" "00475370" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477015" "00475371" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477016" "00475372" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477017" "00475373" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477018" "00475374" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477019" "00475375" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477020" "00475376" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477021" "00475377" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477022" "00475378" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477023" "00475379" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477024" "00475380" "1" "00006" "00006" "2026-04-09 15:02:57" "" "" "SEQ" "DNA" "" "" "0000477025" "00475381" "1" "00006" "00006" "2026-04-09 15:20:09" "" "" "SEQ" "DNA" "" "" "0000477026" "00475382" "1" "00006" "00006" "2026-04-09 15:20:09" "" "" "SEQ" "DNA" "" "" "0000477027" "00475383" "1" "00006" "00006" "2026-04-09 15:20:09" "" "" "SEQ" "DNA" "" "" "0000477028" "00475384" "1" "00006" "00006" "2026-04-09 15:20:09" "" "" "SEQ" "DNA" "" "" "0000477029" "00475385" "1" "00006" "00006" "2026-04-09 15:20:09" "" "" "SEQ" "DNA" "" "" "0000477030" "00475386" "1" "00006" "00006" "2026-04-09 15:20:09" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{geneid}}" "0000133817" "UMOD" "0000476978" "UMOD" "0000476980" "UMOD" "0000476981" "UMOD" "0000476982" "UMOD" "0000476983" "UMOD" "0000476984" "UMOD" "0000476985" "UMOD" "0000476986" "UMOD" "0000476987" "UMOD" "0000476988" "UMOD" "0000476989" "UMOD" "0000476990" "UMOD" "0000476991" "UMOD" "0000476992" "UMOD" "0000476993" "UMOD" "0000476994" "UMOD" "0000476995" "UMOD" "0000476996" "UMOD" "0000476997" "UMOD" "0000476998" "UMOD" "0000476999" "UMOD" "0000477000" "UMOD" "0000477001" "UMOD" "0000477002" "UMOD" "0000477003" "UMOD" "0000477004" "UMOD" "0000477005" "UMOD" "0000477006" "UMOD" "0000477007" "UMOD" "0000477008" "UMOD" "0000477009" "UMOD" "0000477010" "UMOD" "0000477011" "UMOD" "0000477012" "UMOD" "0000477013" "UMOD" "0000477014" "UMOD" "0000477015" "UMOD" "0000477016" "UMOD" "0000477017" "UMOD" "0000477018" "UMOD" "0000477019" "UMOD" "0000477020" "UMOD" "0000477021" "UMOD" "0000477022" "UMOD" "0000477023" "UMOD" "0000477024" "UMOD" "0000477025" "UMOD" "0000477026" "UMOD" "0000477027" "UMOD" "0000477028" "UMOD" "0000477029" "UMOD" "0000477030" "UMOD" ## 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 = 111 "{{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}}" "0000223245" "0" "90" "16" "20359916" "20359916" "subst" "0" "00006" "UMOD_000001" "g.20359916G>C" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.20348594G>C" "" "pathogenic" "" "0000312941" "0" "10" "16" "20360101" "20360101" "subst" "0.61219" "02325" "UMOD_000004" "g.20360101G>A" "" "" "" "UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348779G>A" "" "benign" "" "0000315192" "0" "10" "16" "20352584" "20352584" "subst" "0.000715058" "02326" "UMOD_000002" "g.20352584G>A" "" "" "" "UMOD(NM_003361.3):c.1406C>T (p.T469M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20341262G>A" "" "benign" "" "0000315193" "0" "10" "16" "20352618" "20352618" "subst" "0.0209074" "02326" "UMOD_000003" "g.20352618C>A" "" "" "" "UMOD(NM_001278614.2):c.1471G>T (p.V491L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20341296C>A" "" "benign" "" "0000315194" "0" "30" "16" "20360198" "20360198" "subst" "0.00644612" "02326" "UMOD_000005" "g.20360198C>T" "" "" "" "UMOD(NM_003361.3):c.425G>A (p.R142Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348876C>T" "" "likely benign" "" "0000315195" "0" "10" "16" "20360101" "20360101" "subst" "0.61219" "02326" "UMOD_000004" "g.20360101G>A" "" "" "" "UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348779G>A" "" "benign" "" "0000337455" "0" "10" "16" "20362106" "20362106" "subst" "0.0225153" "02327" "UMOD_000016" "g.20362106A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20350784A>G" "" "benign" "" "0000337456" "0" "10" "16" "20362115" "20362115" "subst" "0.0268419" "02327" "UMOD_000017" "g.20362115C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20350793C>T" "" "benign" "" "0000339624" "0" "10" "16" "20359633" "20359633" "subst" "0.160554" "02327" "UMOD_000007" "g.20359633C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348311C>T" "" "benign" "" "0000339625" "0" "10" "16" "20359831" "20359831" "subst" "0.156753" "02327" "UMOD_000009" "g.20359831C>T" "" "" "" "UMOD(NM_003361.3):c.792G>A (p.V264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348509C>T" "" "benign" "" "0000339626" "0" "10" "16" "20360101" "20360101" "subst" "0.61219" "02327" "UMOD_000004" "g.20360101G>A" "" "" "" "UMOD(NM_001278614.2):c.621C>T (p.C207=), UMOD(NM_003361.3):c.522C>T (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348779G>A" "" "benign" "" "0000339627" "0" "10" "16" "20360359" "20360359" "subst" "0.0310977" "02327" "UMOD_000010" "g.20360359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349037G>A" "" "benign" "" "0000344345" "0" "50" "16" "20359763" "20359763" "subst" "0" "02327" "UMOD_000008" "g.20359763C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348441C>G" "" "VUS" "" "0000344347" "0" "70" "16" "20359620" "20359620" "subst" "0" "02327" "UMOD_000006" "g.20359620A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348298A>G" "" "likely pathogenic" "" "0000344417" "0" "90" "16" "20360468" "20360468" "subst" "0" "02327" "UMOD_000014" "g.20360468C>T" "" "" "" "UMOD(NM_003361.3):c.155G>A (p.C52Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349146C>T" "" "pathogenic" "" "0000345515" "0" "50" "16" "20360420" "20360420" "subst" "0" "02327" "UMOD_000012" "g.20360420T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349098T>C" "" "VUS" "" "0000348303" "0" "70" "16" "20359916" "20359916" "subst" "0" "02327" "UMOD_000001" "g.20359916G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20348594G>C" "" "likely pathogenic" "" "0000348950" "0" "90" "16" "20360525" "20360525" "subst" "0" "02327" "UMOD_000015" "g.20360525G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20349203G>C" "" "pathogenic" "" "0000557054" "0" "10" "16" "20344532" "20344532" "subst" "0" "02327" "GP2_000001" "g.20344532G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20333210G>A" "" "benign" "" "0000557055" "0" "30" "16" "20352490" "20352490" "subst" "0.000487337" "01943" "UMOD_000018" "g.20352490T>C" "" "" "" "UMOD(NM_001278614.1):c.1599A>G (p.A533=), UMOD(NM_003361.3):c.1500A>G (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20341168T>C" "" "likely benign" "" "0000557056" "0" "70" "16" "20357591" "20357591" "subst" "0" "02326" "UMOD_000019" "g.20357591A>G" "" "" "" "UMOD(NM_001008389.3):c.1039T>C (p.C347R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20346269A>G" "" "likely pathogenic" "" "0000557057" "0" "70" "16" "20359815" "20359815" "subst" "0" "02327" "UMOD_000020" "g.20359815C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348493C>A" "" "likely pathogenic" "" "0000557058" "0" "10" "16" "20359831" "20359831" "subst" "0.156753" "02326" "UMOD_000009" "g.20359831C>T" "" "" "" "UMOD(NM_003361.3):c.792G>A (p.V264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348509C>T" "" "benign" "" "0000557059" "0" "50" "16" "20359931" "20359931" "subst" "0" "02327" "UMOD_000021" "g.20359931A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348609A>G" "" "VUS" "" "0000557060" "0" "70" "16" "20359937" "20359937" "subst" "0" "02327" "UMOD_000022" "g.20359937A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348615A>G" "" "likely pathogenic" "" "0000557061" "0" "50" "16" "20360451" "20360451" "subst" "1.62857E-5" "02327" "UMOD_000023" "g.20360451C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20349129C>T" "" "VUS" "" "0000557062" "0" "50" "16" "20360508" "20360508" "subst" "0" "01943" "UMOD_000024" "g.20360508C>T" "" "" "" "UMOD(NM_001278614.1):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20349186C>T" "" "VUS" "" "0000615818" "0" "30" "16" "20359544" "20359544" "subst" "4.06547E-6" "02327" "UMOD_000026" "g.20359544C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20348222C>T" "" "likely benign" "" "0000623393" "0" "30" "16" "20352526" "20352526" "subst" "0.000454856" "01943" "UMOD_000025" "g.20352526G>A" "" "" "" "UMOD(NM_001278614.1):c.1563C>T (p.G521=), UMOD(NM_003361.3):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20341204G>A" "" "likely benign" "" "0000649257" "1" "30" "16" "20352615" "20352615" "subst" "0.000300901" "03575" "UMOD_000027" "g.20352615G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs139607138}" "Germline" "" "rs139607138" "0" "" "" "g.20341293G>A" "" "likely benign" "" "0000649258" "1" "10" "16" "20352618" "20352618" "subst" "0.0209074" "03575" "UMOD_000003" "g.20352618C>A" "172/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "172 heterozygous; {DB:CLININrs55772253}" "Germline" "" "rs55772253" "0" "" "" "g.20341296C>A" "" "benign" "" "0000649260" "1" "10" "16" "20360085" "20360085" "subst" "0.00178475" "03575" "UMOD_000028" "g.20360085G>C" "1/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs187555378}" "Germline" "" "rs187555378" "0" "" "" "g.20348763G>C" "" "benign" "" "0000657765" "0" "30" "16" "20361086" "20361086" "subst" "0.000350691" "01943" "UMOD_000029" "g.20361086T>C" "" "" "" "UMOD(NM_001278614.1):c.187+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20349764T>C" "" "likely benign" "" "0000669324" "3" "10" "16" "20352618" "20352618" "subst" "0.0209074" "03575" "UMOD_000003" "g.20352618C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs55772253}" "Germline" "" "rs55772253" "0" "" "" "g.20341296C>A" "" "benign" "" "0000691964" "0" "90" "16" "20360240" "20360240" "subst" "0" "02326" "UMOD_000030" "g.20360240T>C" "" "" "" "UMOD(NM_001278614.2):c.482A>G (p.N161S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725513" "0" "10" "16" "20352490" "20352490" "subst" "0.000487337" "02327" "UMOD_000018" "g.20352490T>C" "" "" "" "UMOD(NM_001278614.1):c.1599A>G (p.A533=), UMOD(NM_003361.3):c.1500A>G (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725514" "0" "30" "16" "20357506" "20357506" "subst" "0.000739639" "01943" "UMOD_000031" "g.20357506C>T" "" "" "" "UMOD(NM_001278614.1):c.1223G>A (p.R408Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765634" "0" "70" "16" "20359916" "20359916" "subst" "0" "03779" "UMOD_000032" "g.20359916G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1447458978" "0" "" "" "" "" "likely pathogenic" "" "0000807130" "0" "30" "16" "20352393" "20352393" "subst" "0.000619233" "02326" "UMOD_000033" "g.20352393T>A" "" "" "" "UMOD(NM_003361.3):c.1577+20A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854316" "0" "30" "16" "20357568" "20357568" "subst" "0.000905679" "02326" "UMOD_000035" "g.20357568G>A" "" "" "" "UMOD(NM_003361.3):c.1062C>T (p.F354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864357" "0" "50" "16" "20360447" "20360447" "subst" "0" "02326" "UMOD_000036" "g.20360447T>C" "" "" "" "UMOD(NM_003361.3):c.176A>G (p.D59G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892600" "0" "30" "16" "20352490" "20352490" "subst" "0.000487337" "02326" "UMOD_000018" "g.20352490T>C" "" "" "" "UMOD(NM_001278614.1):c.1599A>G (p.A533=), UMOD(NM_003361.3):c.1500A>G (p.A500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892601" "0" "30" "16" "20352526" "20352526" "subst" "0.000454856" "02326" "UMOD_000025" "g.20352526G>A" "" "" "" "UMOD(NM_001278614.1):c.1563C>T (p.G521=), UMOD(NM_003361.3):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892602" "0" "30" "16" "20352615" "20352615" "subst" "0.000300901" "02326" "UMOD_000027" "g.20352615G>A" "" "" "" "UMOD(NM_003361.3):c.1375C>T (p.R459W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892603" "0" "10" "16" "20360085" "20360085" "subst" "0.00178475" "02326" "UMOD_000028" "g.20360085G>C" "" "" "" "UMOD(NM_003361.3):c.538C>G (p.L180V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892604" "0" "70" "16" "20360421" "20360421" "subst" "0" "02326" "UMOD_000037" "g.20360421C>T" "" "" "" "UMOD(NM_003361.3):c.202G>A (p.E68K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892605" "0" "90" "16" "20360468" "20360468" "subst" "0" "02326" "UMOD_000014" "g.20360468C>T" "" "" "" "UMOD(NM_003361.3):c.155G>A (p.C52Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926161" "0" "30" "16" "20344643" "20344643" "subst" "0.000711668" "02326" "GP2_000002" "g.20344643A>G" "" "" "" "UMOD(NM_003361.3):c.1916T>C (p.F639S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926162" "0" "30" "16" "20359630" "20359630" "subst" "4.06114E-6" "02326" "UMOD_000038" "g.20359630C>A" "" "" "" "UMOD(NM_003361.3):c.888G>T (p.T296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930523" "0" "30" "16" "20348036" "20348036" "subst" "0.000897659" "02326" "UMOD_000039" "g.20348036G>A" "" "" "" "UMOD(NM_003361.3):c.1754C>T (p.T585I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930524" "0" "30" "16" "20352614" "20352614" "subst" "0.000979762" "02326" "UMOD_000040" "g.20352614C>T" "" "" "" "UMOD(NM_003361.3):c.1376G>A (p.R459Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930525" "0" "30" "16" "20359538" "20359538" "subst" "0.000414978" "02326" "UMOD_000041" "g.20359538G>A" "" "" "" "UMOD(NM_003361.3):c.973+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950535" "0" "30" "16" "20348595" "20348595" "subst" "0.000881748" "02326" "UMOD_000042" "g.20348595G>A" "" "" "" "UMOD(NM_003361.3):c.1740+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950537" "0" "30" "16" "20352637" "20352637" "subst" "0.00088368" "02326" "UMOD_000043" "g.20352637G>C" "" "" "" "UMOD(NM_003361.3):c.1353C>G (p.G451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968155" "0" "70" "16" "20359619" "20359619" "subst" "0" "02326" "UMOD_000044" "g.20359619C>T" "" "" "" "UMOD(NM_003361.3):c.899G>A (p.C300Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981676" "0" "70" "16" "20359916" "20359916" "subst" "0" "02326" "UMOD_000032" "g.20359916G>A" "" "" "" "UMOD(NM_003361.3):c.707C>T (p.P236L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981679" "0" "30" "16" "20360290" "20360290" "subst" "0.000225566" "02326" "UMOD_000045" "g.20360290C>T" "" "" "" "UMOD(NM_003361.3):c.333G>A (p.E111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002009" "0" "70" "16" "20359959" "20359959" "subst" "0" "02326" "UMOD_000046" "g.20359959G>A" "" "" "" "UMOD(NM_003361.3):c.664C>T (p.R222C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002010" "0" "70" "16" "20360247" "20360247" "subst" "0" "02326" "UMOD_000047" "g.20360247A>G" "" "" "" "UMOD(NM_003361.3):c.376T>C (p.C126R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001072075" "1" "90" "16" "20360070" "20360070" "subst" "0" "04977" "UMOD_000048" "g.20360070G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.20348748G>A" "" "likely pathogenic (dominant)" "" "0001072095" "1" "90" "16" "20360528" "20360528" "subst" "0" "00006" "UMOD_000086" "g.20360528C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20349206C>T" "" "pathogenic (dominant)" "" "0001072096" "1" "90" "16" "20360523" "20360523" "subst" "0" "00006" "UMOD_000084" "g.20360523C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20349201C>T" "" "pathogenic (dominant)" "" "0001072097" "1" "90" "16" "20360447" "20360447" "subst" "0" "00006" "UMOD_000083" "g.20360447T>G" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "A281C" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20349125T>G" "" "pathogenic (dominant)" "" "0001072098" "1" "90" "16" "20360418" "20360418" "subst" "0" "00006" "UMOD_000082" "g.20360418A>G" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20349096A>G" "" "pathogenic (dominant)" "" "0001072099" "1" "90" "16" "20360289" "20360289" "subst" "0" "00006" "UMOD_000081" "g.20360289A>G" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "T439C" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348967A>G" "" "pathogenic (dominant)" "" "0001072100" "1" "90" "16" "20360247" "20360247" "subst" "0" "00006" "UMOD_000047" "g.20360247A>G" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "T481C" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348925A>G" "" "pathogenic (dominant)" "" "0001072101" "1" "90" "16" "20360220" "20360220" "subst" "0" "00006" "UMOD_000080" "g.20360220A>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348898A>T" "" "pathogenic (dominant)" "" "0001072102" "1" "90" "16" "20360181" "20360181" "subst" "0" "00006" "UMOD_000079" "g.20360181A>G" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348859A>G" "" "pathogenic (dominant)" "" "0001072103" "1" "90" "16" "20360174" "20360174" "subst" "0" "00006" "UMOD_000078" "g.20360174C>G" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348852C>G" "" "pathogenic (dominant)" "" "0001072104" "1" "90" "16" "20360174" "20360174" "subst" "0" "00006" "UMOD_000078" "g.20360174C>G" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348852C>G" "" "pathogenic (dominant)" "" "0001072105" "1" "90" "16" "20360164" "20360164" "subst" "0" "00006" "UMOD_000077" "g.20360164G>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348842G>A" "" "pathogenic (dominant)" "" "0001072106" "1" "90" "16" "20360114" "20360114" "subst" "0" "00006" "UMOD_000076" "g.20360114C>T" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "G614A" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348792C>T" "" "pathogenic (dominant)" "" "0001072107" "1" "90" "16" "20360114" "20360114" "subst" "0" "00006" "UMOD_000076" "g.20360114C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348792C>T" "" "pathogenic (dominant)" "" "0001072108" "1" "90" "16" "20360109" "20360109" "subst" "0" "00006" "UMOD_000075" "g.20360109C>G" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348787C>G" "" "pathogenic (dominant)" "" "0001072109" "1" "90" "16" "20360071" "20360071" "subst" "0" "00006" "UMOD_000074" "g.20360071C>G" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348749C>G" "" "pathogenic (dominant)" "" "0001072110" "1" "90" "16" "20360070" "20360070" "subst" "0" "00006" "UMOD_000048" "g.20360070G>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348748G>A" "" "pathogenic (dominant)" "" "0001072111" "1" "90" "16" "20360069" "20360069" "subst" "0" "00006" "UMOD_000071" "g.20360069C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348747C>T" "" "pathogenic (dominant)" "" "0001072112" "1" "90" "16" "20360070" "20360070" "subst" "0" "00006" "UMOD_000072" "g.20360070G>T" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "C658A" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348748G>T" "" "pathogenic (dominant)" "" "0001072113" "1" "90" "16" "20359962" "20360060" "del" "0" "00006" "UMOD_000062" "g.20359962_20360060del" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "668del99 (E188_L221del)" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348640_20348738del" "" "pathogenic (dominant)" "" "0001072114" "1" "90" "16" "20360037" "20360038" "delins" "0" "00006" "UMOD_000070" "g.20360037_20360038delinsTA" "" "{PMID:Bollee 2011:21868615}" "" "c0.585_586CG>TA" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348715_20348716delinsTA" "" "pathogenic (dominant)" "" "0001072115" "1" "90" "16" "20360037" "20360037" "subst" "0" "00006" "UMOD_000068" "g.20360037C>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348715C>A" "" "pathogenic (dominant)" "" "0001072116" "1" "90" "16" "20360012" "20360012" "subst" "0" "00006" "UMOD_000066" "g.20360012C>G" "" "{PMID:Bollee 2011:21868615}" "" "c0.610C>G (R204G)" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348690C>G" "" "pathogenic (dominant)" "" "0001072117" "1" "90" "16" "20360013" "20360013" "subst" "0" "00006" "UMOD_000067" "g.20360013G>C" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "C715G" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348691G>C" "" "pathogenic (dominant)" "" "0001072118" "1" "90" "16" "20359995" "20359995" "subst" "0" "00006" "UMOD_000065" "g.20359995C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348673C>T" "" "pathogenic (dominant)" "" "0001072119" "1" "90" "16" "20359995" "20359995" "subst" "0" "00006" "UMOD_000065" "g.20359995C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348673C>T" "" "pathogenic (dominant)" "" "0001072120" "1" "90" "16" "20359974" "20359974" "subst" "0" "00006" "UMOD_000064" "g.20359974A>C" "" "{PMID:Bollee 2011:21868615}" "" "T794G" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348652A>C" "" "pathogenic (dominant)" "" "0001072121" "1" "90" "16" "20359958" "20359958" "subst" "0" "00006" "UMOD_000061" "g.20359958C>G" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "G770C" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348636C>G" "" "pathogenic (dominant)" "" "0001072122" "1" "90" "16" "20359949" "20359949" "subst" "0" "00006" "UMOD_000059" "g.20359949G>A" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "C779T" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348627G>A" "" "pathogenic (dominant)" "" "0001072123" "1" "90" "16" "20359949" "20359949" "subst" "0" "00006" "UMOD_000059" "g.20359949G>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348627G>A" "" "pathogenic (dominant)" "" "0001072124" "1" "90" "16" "20359949" "20359949" "subst" "0" "00006" "UMOD_000059" "g.20359949G>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348627G>A" "" "pathogenic (dominant)" "" "0001072125" "1" "90" "16" "20359916" "20359916" "subst" "0" "00006" "UMOD_000032" "g.20359916G>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348594G>A" "" "pathogenic (dominant)" "" "0001072126" "1" "90" "16" "20359916" "20359916" "subst" "0" "00006" "UMOD_000032" "g.20359916G>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348594G>A" "" "pathogenic (dominant)" "" "0001072127" "1" "90" "16" "20359913" "20359913" "subst" "0" "00006" "UMOD_000058" "g.20359913G>C" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348591G>C" "" "pathogenic (dominant)" "" "0001072128" "1" "90" "16" "20359874" "20359874" "subst" "0" "00006" "UMOD_000057" "g.20359874T>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348552T>A" "" "pathogenic (dominant)" "" "0001072129" "1" "90" "16" "20359806" "20359806" "subst" "0" "00006" "UMOD_000056" "g.20359806C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348484C>T" "" "pathogenic (dominant)" "" "0001072130" "1" "90" "16" "20359779" "20359779" "subst" "0" "00006" "UMOD_000055" "g.20359779A>G" "" "{PMID:Dahan 2003:14569098}, {PMID:Bollee 2011:21868615}" "" "T949C" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348457A>G" "" "pathogenic (dominant)" "" "0001072131" "1" "90" "16" "20359769" "20359769" "subst" "0" "00006" "UMOD_000054" "g.20359769G>T" "" "{PMID:Bollee 2011:21868615}" "" "c0.855C>A (A285E)" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348447G>T" "" "pathogenic (dominant)" "" "0001072132" "1" "90" "16" "20359627" "20359627" "subst" "0" "00006" "UMOD_000052" "g.20359627A>C" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348305A>C" "" "pathogenic (dominant)" "" "0001072133" "1" "90" "16" "20359628" "20359628" "subst" "0" "00006" "UMOD_000053" "g.20359628C>T" "" "{PMID:Bollee 2011:21868615}" "" "c0.893G>A (C297Y)" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348306C>T" "" "pathogenic (dominant)" "" "0001072134" "1" "90" "16" "20359574" "20359574" "subst" "0" "00006" "UMOD_000051" "g.20359574C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348252C>T" "" "pathogenic (dominant)" "" "0001072135" "1" "90" "16" "20359574" "20359574" "subst" "0" "00006" "UMOD_000051" "g.20359574C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348252C>T" "" "pathogenic (dominant)" "" "0001072136" "1" "90" "16" "20359574" "20359574" "subst" "0" "00006" "UMOD_000051" "g.20359574C>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20348252C>T" "" "pathogenic (dominant)" "" "0001072137" "1" "90" "16" "20352608" "20352608" "subst" "0" "00006" "UMOD_000050" "g.20352608G>T" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20341286G>T" "" "pathogenic (dominant)" "" "0001072138" "1" "90" "16" "20352584" "20352584" "subst" "0.000715058" "00006" "UMOD_000002" "g.20352584G>A" "" "{PMID:Bollee 2011:21868615}" "" "" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20341262G>A" "" "pathogenic (dominant)" "" "0001072139" "1" "90" "16" "20352528" "20352528" "subst" "0" "00006" "UMOD_000049" "g.20352528C>G" "" "{PMID:Bollee 2011:21868615}" "" "c0.1462G>A (G488R)" "variant not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.20341206C>G" "" "pathogenic (dominant)" "" "0001072143" "1" "90" "16" "20360527" "20360527" "subst" "0" "00006" "UMOD_000085" "g.20360527G>C" "" "{PMID:Williams 2009:19465746}" "" "" "" "Germline" "" "" "0" "" "" "g.20349205G>C" "" "pathogenic (dominant)" "" "0001072144" "1" "90" "16" "20360070" "20360070" "subst" "0" "00006" "UMOD_000073" "g.20360070G>C" "" "{PMID:Williams 2009:19465746}" "" "" "" "Germline" "" "" "0" "" "" "g.20348748G>C" "" "pathogenic (dominant)" "" "0001072145" "11" "90" "16" "20360037" "20360037" "subst" "0" "00006" "UMOD_000069" "g.20360037C>T" "" "{PMID:Williams 2009:19465746}" "" "" "" "Germline" "yes" "" "0" "" "" "g.20348715C>T" "" "pathogenic (dominant)" "" "0001072146" "1" "90" "16" "20359972" "20359972" "subst" "0" "00006" "UMOD_000063" "g.20359972G>C" "" "{PMID:Williams 2009:19465746}" "" "" "" "Germline" "" "" "0" "" "" "g.20348650G>C" "" "pathogenic (dominant)" "" "0001072147" "1" "90" "16" "20359956" "20359956" "subst" "0" "00006" "UMOD_000060" "g.20359956A>G" "" "{PMID:Williams 2009:19465746}" "" "" "" "Germline" "" "" "0" "" "" "g.20348634A>G" "" "pathogenic (dominant)" "" "0001072148" "1" "90" "16" "20352528" "20352528" "subst" "0" "00006" "UMOD_000049" "g.20352528C>G" "" "{PMID:Williams 2009:19465746}" "" "" "" "Germline" "" "" "0" "" "" "g.20341206C>G" "" "pathogenic (dominant)" "" ## 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 UMOD ## Count = 111 "{{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}}" "0000223245" "00025252" "00" "707" "0" "707" "0" "c.707C>G" "r.(?)" "p.(Pro236Arg)" "" "0000312941" "00025252" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000315192" "00025252" "10" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Thr469Met)" "" "0000315193" "00025252" "10" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Val458Leu)" "" "0000315194" "00025252" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142Gln)" "" "0000315195" "00025252" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000337455" "00025252" "10" "-47" "0" "-47" "0" "c.-47T>C" "r.(?)" "p.(=)" "" "0000337456" "00025252" "10" "-56" "0" "-56" "0" "c.-56G>A" "r.(?)" "p.(=)" "" "0000339624" "00025252" "10" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Gly295=)" "" "0000339625" "00025252" "10" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Val264=)" "" "0000339626" "00025252" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Cys174=)" "" "0000339627" "00025252" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Gly88=)" "" "0000344345" "00025252" "50" "860" "0" "860" "0" "c.860G>C" "r.(?)" "p.(Cys287Ser)" "" "0000344347" "00025252" "70" "898" "0" "898" "0" "c.898T>C" "r.(?)" "p.(Cys300Arg)" "" "0000344417" "00025252" "90" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Cys52Tyr)" "" "0000345515" "00025252" "50" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Glu68Gly)" "" "0000348303" "00025252" "70" "707" "0" "707" "0" "c.707C>G" "r.(?)" "p.(Pro236Arg)" "" "0000348950" "00025252" "90" "98" "0" "98" "0" "c.98C>G" "r.(?)" "p.(Ser33Cys)" "" "0000557054" "00025252" "10" "2027" "0" "2027" "0" "c.*104C>T" "r.(=)" "p.(=)" "" "0000557055" "00025252" "30" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ala500=)" "" "0000557056" "00025252" "70" "1039" "0" "1039" "0" "c.1039T>C" "r.(?)" "p.(Cys347Arg)" "" "0000557057" "00025252" "70" "808" "0" "808" "0" "c.808G>T" "r.(?)" "p.(Gly270Cys)" "" "0000557058" "00025252" "10" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Val264=)" "" "0000557059" "00025252" "50" "692" "0" "692" "0" "c.692T>C" "r.(?)" "p.(Leu231Pro)" "" "0000557060" "00025252" "70" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Met229Thr)" "" "0000557061" "00025252" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Ser)" "" "0000557062" "00025252" "50" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Ala39Thr)" "" "0000615818" "00025252" "30" "973" "1" "973" "1" "c.973+1G>A" "r.spl?" "p.?" "" "0000623393" "00025252" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000649257" "00025252" "30" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Trp)" "" "0000649258" "00025252" "10" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Val458Leu)" "" "0000649260" "00025252" "10" "538" "0" "538" "0" "c.538C>G" "r.(?)" "p.(Leu180Val)" "" "0000657765" "00025252" "30" "89" "-552" "89" "-552" "c.89-552A>G" "r.(=)" "p.(=)" "" "0000669324" "00025252" "10" "1372" "0" "1372" "0" "c.1372G>T" "r.(?)" "p.(Val458Leu)" "" "0000691964" "00025252" "90" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asn128Ser)" "" "0000725513" "00025252" "10" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ala500=)" "" "0000725514" "00025252" "30" "1124" "0" "1124" "0" "c.1124G>A" "r.(?)" "p.(Arg375Gln)" "" "0000765634" "00025252" "70" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Pro236Leu)" "" "0000807130" "00025252" "30" "1577" "20" "1577" "20" "c.1577+20A>T" "r.(=)" "p.(=)" "" "0000854316" "00025252" "30" "1062" "0" "1062" "0" "c.1062C>T" "r.(?)" "p.(Phe354=)" "" "0000864357" "00025252" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asp59Gly)" "" "0000892600" "00025252" "30" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ala500=)" "" "0000892601" "00025252" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000892602" "00025252" "30" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Trp)" "" "0000892603" "00025252" "10" "538" "0" "538" "0" "c.538C>G" "r.(?)" "p.(Leu180Val)" "" "0000892604" "00025252" "70" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Glu68Lys)" "" "0000892605" "00025252" "90" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Cys52Tyr)" "" "0000926161" "00025252" "30" "1916" "0" "1916" "0" "c.1916T>C" "r.(?)" "p.(Phe639Ser)" "" "0000926162" "00025252" "30" "888" "0" "888" "0" "c.888G>T" "r.(?)" "p.(Thr296=)" "" "0000930523" "00025252" "30" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Thr585Ile)" "" "0000930524" "00025252" "30" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459Gln)" "" "0000930525" "00025252" "30" "973" "7" "973" "7" "c.973+7C>T" "r.(=)" "p.(=)" "" "0000950535" "00025252" "30" "1740" "18" "1740" "18" "c.1740+18C>T" "r.(=)" "p.(=)" "" "0000950537" "00025252" "30" "1353" "0" "1353" "0" "c.1353C>G" "r.(?)" "p.(=)" "" "0000968155" "00025252" "70" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Cys300Tyr)" "" "0000981676" "00025252" "70" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Pro236Leu)" "" "0000981679" "00025252" "30" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(=)" "" "0001002009" "00025252" "70" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Arg222Cys)" "" "0001002010" "00025252" "70" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.(Cys126Arg)" "" "0001072075" "00025252" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "3" "0001072095" "00025252" "90" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Cys32Tyr)" "" "0001072096" "00025252" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Glu34Lys)" "" "0001072097" "00025252" "90" "176" "0" "176" "0" "c.176A>C" "r.(?)" "p.(Asp59Ala)" "" "0001072098" "00025252" "90" "205" "0" "205" "0" "c.205T>C" "r.(?)" "p.(Cys69Arg)" "" "0001072099" "00025252" "90" "334" "0" "334" "0" "c.334T>C" "r.(?)" "p.(Cys112Arg)" "" "0001072100" "00025252" "90" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.(Cys126Arg)" "" "0001072101" "00025252" "90" "403" "0" "403" "0" "c.403T>A" "r.(?)" "p.(Cys135Ser)" "" "0001072102" "00025252" "90" "442" "0" "442" "0" "c.442T>C" "r.(?)" "p.(Cys148Arg)" "" "0001072103" "00025252" "90" "449" "0" "449" "0" "c.449G>C" "r.(?)" "p.(Cys150Ser)" "" "0001072104" "00025252" "90" "449" "0" "449" "0" "c.449G>C" "r.(?)" "p.(Cys150Ser)" "" "0001072105" "00025252" "90" "459" "0" "459" "0" "c.459C>T" "r.spl?" "p.(?)" "" "0001072106" "00025252" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Cys170Tyr)" "" "0001072107" "00025252" "90" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Cys170Tyr)" "" "0001072108" "00025252" "90" "514" "0" "514" "0" "c.514G>C" "r.(?)" "p.(Asp172His)" "" "0001072109" "00025252" "90" "552" "0" "552" "0" "c.552G>C" "r.(?)" "p.(Trp184Cys)" "" "0001072110" "00025252" "90" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Arg185Cys)" "" "0001072111" "00025252" "90" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" "" "0001072112" "00025252" "90" "553" "0" "553" "0" "c.553C>A" "r.(?)" "p.(Arg185Ser)" "" "0001072113" "00025252" "90" "563" "0" "661" "0" "c.563_661del" "r.(?)" "p.(Glu188_Leu221delinsVal)" "" "0001072114" "00025252" "90" "585" "0" "586" "0" "c.585_586delinsTA" "r.(?)" "p.(Asp196Asn)" "" "0001072115" "00025252" "90" "586" "0" "586" "0" "c.586G>T" "r.(?)" "p.(Asp196Tyr)" "" "0001072116" "00025252" "90" "611" "0" "611" "0" "c.611G>C" "r.(?)" "p.(Arg204Pro)" "" "0001072117" "00025252" "90" "610" "0" "610" "0" "c.610C>G" "r.(?)" "p.(Arg204Gly)" "" "0001072118" "00025252" "90" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Ser)" "" "0001072119" "00025252" "90" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Gly210Ser)" "" "0001072120" "00025252" "90" "649" "0" "649" "0" "c.649T>G" "r.(?)" "p.(Cys217Gly)" "" "0001072121" "00025252" "90" "665" "0" "665" "0" "c.665G>C" "r.(?)" "p.(Arg222Pro)" "" "0001072122" "00025252" "90" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Thr225Met)" "" "0001072123" "00025252" "90" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Thr225Met)" "" "0001072124" "00025252" "90" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Thr225Met)" "" "0001072125" "00025252" "90" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Pro236Leu)" "" "0001072126" "00025252" "90" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Pro236Leu)" "" "0001072127" "00025252" "90" "710" "0" "710" "0" "c.710C>G" "r.(?)" "p.(Ser237Cys)" "" "0001072128" "00025252" "90" "749" "0" "749" "0" "c.749A>T" "r.(?)" "p.(His250Leu)" "" "0001072129" "00025252" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Val273Ile)" "" "0001072130" "00025252" "90" "844" "0" "844" "0" "c.844T>C" "r.(?)" "p.(Cys282Arg)" "" "0001072131" "00025252" "90" "854" "0" "854" "0" "c.854C>A" "r.(?)" "p.(Ala285Glu)" "" "0001072132" "00025252" "90" "891" "0" "891" "0" "c.891T>G" "r.(?)" "p.(Cys297Trp)" "" "0001072133" "00025252" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Cys297Tyr)" "" "0001072134" "00025252" "90" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Cys315Tyr)" "" "0001072135" "00025252" "90" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Cys315Tyr)" "" "0001072136" "00025252" "90" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Cys315Tyr)" "" "0001072137" "00025252" "90" "1382" "0" "1382" "0" "c.1382C>A" "r.(?)" "p.(Ala461Glu)" "" "0001072138" "00025252" "90" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Thr469Met)" "" "0001072139" "00025252" "90" "1462" "0" "1462" "0" "c.1462G>C" "r.(?)" "p.(Gly488Arg)" "" "0001072143" "00025252" "90" "96" "0" "96" "0" "c.96C>G" "r.(?)" "p.(Cys32Trp)" "3" "0001072144" "00025252" "90" "553" "0" "553" "0" "c.553C>G" "Arg185Gly (R185G)" "p.(Cys32Trp)" "3" "0001072145" "00025252" "90" "586" "0" "586" "0" "c.586G>A" "Asp196Asn* (D196N)" "p.(Cys32Trp)" "3" "0001072146" "00025252" "90" "651" "0" "651" "0" "c.651C>G" "Cys217Trp* (C217W)" "p.(Cys32Trp)" "3" "0001072147" "00025252" "90" "667" "0" "667" "0" "c.667T>C" "Cys223Arg* (C223R)" "p.(Cys32Trp)" "3" "0001072148" "00025252" "90" "1462" "0" "1462" "0" "c.1462G>C" "Gly488Arg* (G488R)" "p.(Cys32Trp)" "7" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000133817" "0000223245" "0000292568" "0000649257" "0000292569" "0000649258" "0000292571" "0000649260" "0000305636" "0000669324" "0000476978" "0001072075" "0000476980" "0001072095" "0000476981" "0001072096" "0000476982" "0001072097" "0000476983" "0001072098" "0000476984" "0001072099" "0000476985" "0001072100" "0000476986" "0001072101" "0000476987" "0001072102" "0000476988" "0001072103" "0000476989" "0001072104" "0000476990" "0001072105" "0000476991" "0001072106" "0000476992" "0001072107" "0000476993" "0001072108" "0000476994" "0001072109" "0000476995" "0001072110" "0000476996" "0001072111" "0000476997" "0001072112" "0000476998" "0001072113" "0000476999" "0001072114" "0000477000" "0001072115" "0000477001" "0001072116" "0000477002" "0001072117" "0000477003" "0001072118" "0000477004" "0001072119" "0000477005" "0001072120" "0000477006" "0001072121" "0000477007" "0001072122" "0000477008" "0001072123" "0000477009" "0001072124" "0000477010" "0001072125" "0000477011" "0001072126" "0000477012" "0001072127" "0000477013" "0001072128" "0000477014" "0001072129" "0000477015" "0001072130" "0000477016" "0001072131" "0000477017" "0001072132" "0000477018" "0001072133" "0000477019" "0001072134" "0000477020" "0001072135" "0000477021" "0001072136" "0000477022" "0001072137" "0000477023" "0001072138" "0000477024" "0001072139" "0000477025" "0001072143" "0000477026" "0001072144" "0000477027" "0001072145" "0000477028" "0001072146" "0000477029" "0001072147" "0000477030" "0001072148"