### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DKC1) # 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}}" "DKC1" "dyskeratosis congenita 1, dyskerin" "X" "q28" "unknown" "NG_009780.1" "UD_132118257090" "" "http://www.LOVD.nl/DKC1" "The DKC1 Telomerase Database " "1" "2890" "1736" "300126" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project. As a start data were copied from the DKC1 gene Telomerase Database." "" "g" "http://databases.lovd.nl/shared/refseq/DKC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2009-03-06 00:00:00" "00006" "2017-06-25 13:05:46" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000191" "DKC1" "dyskeratosis congenita 1, dyskerin, transcript variant 1" "001" "NM_001363.3" "" "NP_001354.1" "" "" "" "-210" "2367" "1545" "153991031" "154005964" "00002" "2012-05-11 13:12:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01077" "DKCX;HHS" "dyskeratosis congenita, X-linked (DKCX, Hoyeraal-Hreidarsson syndrome (HHS))" "XLR" "305000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DKC1" "00139" "DKC1" "01077" ## Individuals ## Do not remove or alter this header ## ## Count = 88 "{{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}}" "00000021" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00105827" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "multiplex family" "" "" "United Arab Emirates" "" "0" "" "" "" "10364516-FamDCR041" "00105828" "" "" "" "1" "" "00233" "{PMID:Heiss 1998:9590285}" "" "" "" "" "" "0" "" "" "" "09590285-Pat" "00105829" "" "" "" "1" "" "00233" "{PMIDCossu 2002:12437656}" "" "" "" "" "" "0" "" "" "" "12437656-Pat" "00105830" "" "" "" "2" "" "00233" "{PMID:Knight 1999:10364516}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10364516-FamDCR008" "00105831" "" "" "" "1" "" "00233" "{PMID:Heiss 1998:9590285}" "" "" "" "" "" "0" "" "" "" "09590285-Pat" "00105832" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "Turkey" "" "0" "" "" "" "10364516-FamDCR038" "00105833" "" "" "" "3" "" "00233" "{PMID:Knight 1999:10583221}" "3-generation family, 3 affected nephews, unaffected carrier mothers" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10583221-FamB" "00105834" "" "" "" "1" "" "00233" "{PMID:Kumikova 2009:18802941}" "" "" "" "" "" "0" "" "" "" "18802941-Pat" "00105835" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "Germany" "" "0" "" "" "" "10364516-FamDCR033" "00105836" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "United States" "" "0" "" "" "" "10364516-FamNIMGS515" "00105837" "" "" "" "1" "" "00233" "{PMID:Hamidah 2008:17417794}" "" "" "" "" "" "0" "" "" "" "17417794-Pat" "00105838" "" "" "" "1" "" "00233" "{PMID:Heiss 1998:9590285}" "" "" "" "" "" "0" "" "" "" "09590285-Pat" "00105839" "" "" "" "2" "" "00233" "{PMID:Knight 1999:10583221}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10583221-FamA" "00105840" "" "" "" "1" "" "00233" "{PMID:Rostamiani 2010:19879169}" "" "" "" "" "" "0" "" "" "" "19879169-Pat" "00105841" "" "" "" "2" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "Italy" "" "0" "" "" "" "10364516-FamDCR009" "00105842" "" "" "" "1" "" "00233" "{PMID:Rostamiani 2010:19879169}" "" "" "" "" "" "0" "" "" "" "19879169-Pat" "00105843" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10364516-FamDCR031" "00105844" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "Austria" "" "0" "" "" "" "10364516-FamDCR021" "00105845" "" "" "" "1" "" "00233" "{PMID:Ding 2004:15304085}" "" "" "" "" "" "0" "" "" "" "15304085-Pat" "00105846" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10364516-FamDCR004" "00105847" "" "" "" "1" "" "00233" "{PMID:Knight 1999:10364516}" "" "" "" "India" "" "0" "" "" "" "10364516-FamDCR027" "00105848" "" "" "" "1" "" "00233" "{PMID:Heiss 1998:9590285}" "" "" "" "" "" "0" "" "" "" "09590285-Pat" "00105849" "" "" "" "1" "" "00233" "{PMID:Ding 2004:15304085}" "" "" "" "" "" "0" "" "" "" "15304085-Pat" "00105850" "" "" "" "5" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "" "" "" "19377476-Pat" "00105851" "" "" "" "3" "" "00006" "{PMID:Knight 2001:11379875}" "2-generated family, 2 affected brothers and unaffected carrier mother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-035" "00105852" "" "" "" "1" "" "00006" "{PMID:Dokal 2000:11054058}" "" "" "" "" "" "0" "" "" "" "11054058-Pat" "00105854" "" "" "" "2" "" "00006" "{PMID:Knight 2001:11379875}" "2-generation family, affected son and unaffected carrier mother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-025" "00105855" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105856" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "Spain" "" "0" "" "" "" "10364516-FamDCR055" "00105857" "" "" "" "1" "" "00006" "{PMID:Kanegane 2005:15842668}" "" "" "" "" "" "0" "" "" "" "15842668-Pat" "00105858" "" "" "" "1" "" "00006" "{PMID:Wong 2004:15349768}" "" "" "" "" "" "0" "" "" "" "15349768-Pat" "00105859" "" "" "" "1" "" "00006" "{PMID:Heiss 1998:9888995}" "" "" "" "" "" "0" "" "" "" "09888995-Pat" "00105860" "" "" "" "1" "" "00006" "{PMID:Heiss 1998:9888995}" "" "" "" "" "" "0" "" "" "" "09888995-Pat" "00105861" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-Pat" "00105862" "" "" "" "1" "" "00006" "{PMID:Heiss 1998:9888995}" "" "" "" "" "" "0" "" "" "" "09888995-Pat" "00105863" "" "" "" "1" "" "00006" "{PMID:Heiss 2001:11491307}" "" "" "" "" "" "0" "" "" "" "11491307-Pat" "00105864" "" "" "" "1" "" "00006" "{PMID:Alder 2013:21757622}" "" "" "" "" "" "0" "" "" "" "21757622-Pat" "00105865" "" "" "" "1" "" "00006" "{PMID:Hassock 1999:9888995}" "" "" "" "" "" "0" "" "" "" "09888995-Pat" "00105866" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105867" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-Pat" "00105868" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105869" "" "" "" "1" "" "00006" "{PMID:Heiss 1998:9888995}" "" "" "" "" "" "0" "" "" "" "09888995-Pat" "00105870" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-Pat" "00105871" "" "" "" "1" "" "00006" "{PMID:Knight 2001:11379875}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-017" "00105872" "" "" "" "1" "" "00006" "{PMID:Knight 2001:11379875}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-071" "00105873" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "18931339-Pat" "00105874" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105875" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "18931339-Pat" "00105876" "" "" "" "1" "" "00006" "{PMID:Marrone 2003:12737310}" "" "" "" "" "" "0" "" "" "" "12737310-Pat" "00105877" "" "" "" "1" "" "00006" "{PMID:Marrone 2003:12737310}" "" "" "" "" "" "0" "" "" "" "12737310-Pat" "00105878" "" "" "" "1" "" "00006" "{PMID:Kanegane 2005:15842668}" "" "" "" "" "" "0" "" "" "" "15842668-Pat" "00105879" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105880" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "21931702-Pat" "00105881" "" "" "" "1" "" "00006" "{PMID:Marrone 2003:12737310}" "" "" "" "" "" "0" "" "" "" "12737310-Pat" "00105882" "" "" "" "4" "" "00006" "{PMID:Knight 2001:11379875}" "2-generated family, 2 affected brothers and unaffected carrier mother/sister" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-075" "00105883" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105884" "" "" "" "1" "" "00006" "{PMID:Hiramatsu 2002:12186364}" "" "" "" "" "" "0" "" "" "" "12186364-Pat" "00105885" "" "" "" "1" "" "00006" "{PMID:Heiss 1998:9888995}" "" "" "" "" "" "0" "" "" "" "09888995-Pat" "00105886" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105887" "" "" "" "1" "" "00006" "{PMID:Alder 2013:21757622}" "" "" "" "" "" "0" "" "" "" "21757622-Pat" "00105888" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105889" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "16332973-Pat" "00105890" "" "" "" "4" "" "00006" "{PMID:Vulliamy 1999:10438713}" "3-generation family, affected patient and uncle, unaffected heterozygous carrier mother/sister" "M" "no" "Germany" "" "0" "" "" "" "10438713-FamPatHO" "00105891" "" "" "" "1" "" "00006" "{PMID:Knight 2001:11379875}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-035" "00105892" "" "" "" "1" "" "00006" "{PMID:Knight 2001:11379875}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-062" "00105893" "" "" "" "1" "" "00006" "{PMID:Knight 2001:11379875}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-065" "00105894" "" "" "" "1" "" "00006" "{PMID:Knight 2001:11379875}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-066" "00105895" "" "" "" "1" "" "00006" "{PMID:Knight 2001:11379875}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "11379875-PatDCR-091" "00148456" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10364516-FamDCR005" "00148457" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "Italy" "" "0" "" "" "" "10364516-FamDCR006" "00148458" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "France" "" "0" "" "" "" "10364516-FamDCR020" "00148459" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "United States" "" "0" "" "" "" "10364516-FamDCR029" "00148460" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10364516-FamDCR030" "00148461" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "United States" "" "0" "" "" "" "10364516-FamDCR044" "00148462" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10364516-FamDCR046" "00148463" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "United States" "" "0" "" "" "" "10364516-FamDCR051" "00148464" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "Spain" "" "0" "" "" "" "10364516-FamDCR055" "00148465" "" "" "" "1" "" "00006" "{PMID:Knight 1999:10364516}" "" "" "" "United States" "" "0" "" "" "" "10364516-FamDCR056" "00294995" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305283" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00335029" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00362770" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362771" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00433112" "" "" "" "3" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "3-generation family, 3 affected (3M), 3 unaffected heterozygous carrier females" "M" "" "Norway" "13y" "0" "" "" "" "Pat90,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 88 "{{individualid}}" "{{diseaseid}}" "00000021" "05378" "00000208" "01157" "00000209" "01157" "00050693" "00198" "00105827" "01077" "00105828" "01077" "00105829" "01077" "00105830" "01077" "00105831" "01077" "00105832" "01077" "00105833" "01077" "00105834" "01077" "00105835" "01077" "00105836" "01077" "00105837" "01077" "00105838" "01077" "00105839" "01077" "00105840" "01077" "00105841" "01077" "00105842" "01077" "00105843" "01077" "00105844" "01077" "00105845" "01077" "00105846" "01077" "00105847" "01077" "00105848" "01077" "00105849" "01077" "00105850" "00187" "00105851" "01077" "00105852" "01077" "00105854" "01077" "00105855" "01077" "00105856" "01077" "00105857" "01077" "00105858" "01077" "00105859" "01077" "00105860" "01077" "00105861" "01077" "00105862" "01077" "00105863" "01077" "00105864" "01077" "00105865" "01077" "00105866" "01077" "00105867" "01077" "00105868" "01077" "00105869" "01077" "00105870" "01077" "00105871" "01077" "00105872" "01077" "00105873" "01077" "00105874" "01077" "00105875" "01077" "00105876" "01077" "00105877" "01077" "00105878" "01077" "00105879" "01077" "00105880" "01077" "00105881" "01077" "00105882" "01077" "00105883" "01077" "00105884" "01077" "00105885" "01077" "00105886" "01077" "00105887" "01077" "00105888" "01077" "00105889" "01077" "00105890" "01077" "00105891" "01077" "00105892" "01077" "00105893" "01077" "00105894" "01077" "00105895" "01077" "00148456" "01077" "00148457" "01077" "00148458" "01077" "00148459" "01077" "00148460" "01077" "00148461" "01077" "00148462" "01077" "00148463" "01077" "00148464" "01077" "00148465" "01077" "00294995" "00198" "00305283" "00198" "00335029" "05793" "00362770" "00198" "00362771" "00198" "00433112" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01077, 01157, 05292, 05378, 05793 ## Count = 85 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000083730" "01077" "00105827" "00233" "Unknown" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083731" "01077" "00105828" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083732" "01077" "00105829" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083733" "01077" "00105830" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083734" "01077" "00105831" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083735" "01077" "00105832" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083736" "01077" "00105833" "00233" "Familial, X-linked recessive" "" "aplastic anaemia, immunodeficiency, cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome)" "" "" "" "" "" "" "" "" "" "" "" "" "0000083737" "01077" "00105834" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083738" "01077" "00105835" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083739" "01077" "00105836" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083740" "01077" "00105837" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083741" "01077" "00105838" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083742" "01077" "00105839" "00233" "Familial, X-linked recessive" "" "aplastic anaemia, immunodeficiency, cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome)" "" "" "" "" "" "" "" "" "" "" "" "" "0000083743" "01077" "00105840" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083744" "01077" "00105841" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083745" "01077" "00105842" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083746" "01077" "00105843" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083747" "01077" "00105844" "00233" "Isolated (sporadic)" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083748" "01077" "00105845" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083749" "01077" "00105846" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000083750" "01077" "00105847" "00233" "Unknown" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083751" "01077" "00105848" "00233" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083752" "01077" "00105849" "00233" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083753" "00187" "00105850" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083754" "01077" "00105851" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083755" "01077" "00105852" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083757" "01077" "00105854" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083758" "01077" "00105855" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083759" "01077" "00105856" "00006" "Isolated (sporadic)" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083760" "01077" "00105857" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083761" "01077" "00105858" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083762" "01077" "00105859" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083763" "01077" "00105860" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083764" "01077" "00105861" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083765" "01077" "00105862" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083766" "01077" "00105863" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083767" "01077" "00105864" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083768" "01077" "00105865" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083769" "01077" "00105866" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083770" "01077" "00105867" "00006" "Familial, X-linked recessive" "" "hoyeraal hreidarrson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083771" "01077" "00105868" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083772" "01077" "00105869" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083773" "01077" "00105870" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083774" "01077" "00105871" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083775" "01077" "00105872" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083776" "01077" "00105873" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita, Hoyeraal Hreidarrson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083777" "01077" "00105874" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita and Hoyeraal Hreidarsson syndrome, dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083778" "01077" "00105875" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083779" "01077" "00105876" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083780" "01077" "00105877" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083781" "01077" "00105878" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083782" "01077" "00105879" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083783" "01077" "00105880" "00006" "Familial, X-linked recessive" "" "Hoyeraal Hreidarrson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083784" "01077" "00105881" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083785" "01077" "00105882" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083786" "01077" "00105883" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita and Hoyeraal Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "0000083787" "01077" "00105884" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083788" "01077" "00105885" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083789" "01077" "00105886" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083790" "01077" "00105887" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083791" "01077" "00105888" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083792" "01077" "00105889" "00006" "Familial, X-linked recessive" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083793" "01077" "00105890" "00006" "Familial, X-linked recessive" "" "X-linked recessive dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "" "0000083794" "01077" "00105891" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083795" "01077" "00105892" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083796" "01077" "00105893" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083797" "01077" "00105894" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000083798" "01077" "00105895" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120905" "01077" "00148456" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120906" "01077" "00148457" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120907" "01077" "00148458" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120908" "01077" "00148459" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120909" "01077" "00148460" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120910" "01077" "00148461" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120911" "01077" "00148462" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120912" "01077" "00148463" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120913" "01077" "00148464" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000120914" "01077" "00148465" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253311" "05793" "00335029" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000258140" "00198" "00362770" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "Dyskeratosis congenita" "" "0000258141" "00198" "00362771" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "Dyskeratosis congenita" "" "0000323638" "05292" "00433112" "00006" "Familial, X-linked" "13y" "Hoyeraal-Hreidarsson syndrome" "" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 88 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000021" "00000021" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000106299" "00105827" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106300" "00105828" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106301" "00105829" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106302" "00105830" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106303" "00105831" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106304" "00105832" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106305" "00105833" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106306" "00105834" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106307" "00105835" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106308" "00105836" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106309" "00105837" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106310" "00105838" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106311" "00105839" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106312" "00105840" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106313" "00105841" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106314" "00105842" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106315" "00105843" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106316" "00105844" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106317" "00105845" "1" "00233" "00233" "2012-03-01 16:08:42" "00006" "2016-12-16 14:32:22" "SEQ" "DNA" "" "" "0000106318" "00105846" "1" "00233" "00233" "2012-03-01 16:08:42" "00006" "2016-12-16 14:32:48" "SEQ" "DNA" "" "" "0000106319" "00105847" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106320" "00105848" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106321" "00105849" "1" "00233" "00233" "2012-03-01 16:08:42" "" "" "SEQ" "DNA" "" "" "0000106322" "00105850" "1" "00006" "00006" "2009-10-28 15:09:48" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" "" "0000106323" "00105851" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106324" "00105852" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106326" "00105854" "1" "00006" "01921" "2017-06-25 13:03:32" "00006" "2017-06-25 13:17:53" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000106327" "00105855" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106328" "00105856" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106329" "00105857" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106330" "00105858" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106331" "00105859" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106332" "00105860" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106333" "00105861" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106334" "00105862" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106335" "00105863" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106336" "00105864" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106337" "00105865" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106338" "00105866" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106339" "00105867" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106340" "00105868" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106341" "00105869" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106342" "00105870" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106343" "00105871" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106344" "00105872" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106345" "00105873" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106346" "00105874" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106347" "00105875" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106348" "00105876" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106349" "00105877" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106350" "00105878" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106351" "00105879" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106352" "00105880" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106353" "00105881" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106354" "00105882" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106355" "00105883" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106356" "00105884" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106357" "00105885" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106358" "00105886" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106359" "00105887" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106360" "00105888" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106361" "00105889" "1" "00006" "01921" "2017-06-25 13:03:32" "" "" "SEQ" "DNA" "" "" "0000106362" "00105890" "1" "00006" "01921" "2017-06-25 13:03:32" "00006" "2017-06-25 13:51:25" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000106363" "00105891" "1" "00006" "00006" "2017-06-25 14:35:37" "" "" "SSCA;SEQ" "DNA" "" "" "0000106364" "00105892" "1" "00006" "00006" "2017-06-25 14:35:37" "" "" "SSCA;SEQ" "DNA" "" "" "0000106365" "00105893" "1" "00006" "00006" "2017-06-25 14:35:37" "" "" "SSCA;SEQ" "DNA" "" "" "0000106366" "00105894" "1" "00006" "00006" "2017-06-25 14:35:37" "" "" "SSCA;SEQ" "DNA" "" "" "0000106367" "00105895" "1" "00006" "00006" "2017-06-25 14:35:37" "" "" "SSCA;SEQ" "DNA" "" "" "0000149312" "00148456" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149313" "00148457" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149314" "00148458" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149315" "00148459" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149316" "00148460" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149317" "00148461" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149318" "00148462" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149319" "00148463" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149320" "00148464" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000149321" "00148465" "1" "00006" "00006" "2018-01-04 17:05:53" "" "" "SEQ" "DNA" "" "" "0000296163" "00294995" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306412" "00305283" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000336258" "00335029" "1" "04011" "04011" "2021-03-03 04:37:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000363998" "00362770" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000363999" "00362771" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000434543" "00433112" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "arrayCGH;PCR;SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 88 "{{screeningid}}" "{{geneid}}" "0000000021" "ALPL" "0000000021" "BTD" "0000000021" "CBS" "0000000021" "DKC1" "0000000021" "ETFB" "0000000021" "GLB1" "0000000021" "SBDS" "0000000021" "SERPINA1" "0000106299" "DKC1" "0000106300" "DKC1" "0000106301" "DKC1" "0000106302" "DKC1" "0000106303" "DKC1" "0000106304" "DKC1" "0000106305" "DKC1" "0000106306" "DKC1" "0000106307" "DKC1" "0000106308" "DKC1" "0000106309" "DKC1" "0000106310" "DKC1" "0000106311" "DKC1" "0000106312" "DKC1" "0000106313" "DKC1" "0000106314" "DKC1" "0000106315" "DKC1" "0000106316" "DKC1" "0000106317" "DKC1" "0000106318" "DKC1" "0000106319" "DKC1" "0000106320" "DKC1" "0000106321" "DKC1" "0000106322" "DKC1" "0000106323" "DKC1" "0000106324" "DKC1" "0000106326" "DKC1" "0000106327" "DKC1" "0000106328" "DKC1" "0000106329" "DKC1" "0000106330" "DKC1" "0000106331" "DKC1" "0000106332" "DKC1" "0000106333" "DKC1" "0000106334" "DKC1" "0000106335" "DKC1" "0000106336" "DKC1" "0000106337" "DKC1" "0000106338" "DKC1" "0000106339" "DKC1" "0000106340" "DKC1" "0000106341" "DKC1" "0000106342" "DKC1" "0000106343" "DKC1" "0000106344" "DKC1" "0000106345" "DKC1" "0000106346" "DKC1" "0000106347" "DKC1" "0000106348" "DKC1" "0000106349" "DKC1" "0000106350" "DKC1" "0000106351" "DKC1" "0000106352" "DKC1" "0000106353" "DKC1" "0000106354" "DKC1" "0000106355" "DKC1" "0000106356" "DKC1" "0000106357" "DKC1" "0000106358" "DKC1" "0000106359" "DKC1" "0000106360" "DKC1" "0000106361" "DKC1" "0000106362" "DKC1" "0000106363" "DKC1" "0000106364" "DKC1" "0000106365" "DKC1" "0000106366" "DKC1" "0000106367" "DKC1" "0000149312" "DKC1" "0000149313" "DKC1" "0000149314" "DKC1" "0000149315" "DKC1" "0000149316" "DKC1" "0000149317" "DKC1" "0000149318" "DKC1" "0000149319" "DKC1" "0000149320" "DKC1" "0000149321" "DKC1" "0000363998" "DKC1" "0000363999" "DKC1" ## 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 = 158 "{{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}}" "0000001303" "3" "50" "X" "153994206" "153994206" "subst" "0" "00002" "DKC1_000014" "g.153994206A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154765931A>G" "" "VUS" "" "0000003349" "0" "30" "X" "153994469" "153994469" "del" "0" "00037" "DKC1_000027" "g.153994469del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154766194del" "" "likely benign" "" "0000003350" "0" "30" "X" "153997295" "153997295" "del" "0" "00037" "DKC1_000030" "g.153997295del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154769020del" "" "likely benign" "" "0000003351" "0" "50" "X" "154001559" "154001559" "del" "0" "00037" "DKC1_000031" "g.154001559del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154773284del" "" "VUS" "" "0000008088" "20" "50" "X" "153994596" "153994596" "subst" "0.997974" "00037" "DKC1_000004" "g.153994596G>T" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000008089" "20" "50" "X" "153996339" "153996339" "subst" "0" "00037" "DKC1_000025" "g.153996339A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154768064A>T" "" "VUS" "" "0000008090" "20" "50" "X" "153996414" "153996414" "subst" "0" "00037" "DKC1_000026" "g.153996414C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154768139C>T" "" "VUS" "" "0000008091" "20" "50" "X" "153997123" "153997123" "subst" "0" "00037" "DKC1_000028" "g.153997123G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154768848G>A" "" "VUS" "" "0000010266" "20" "50" "X" "153994596" "153994596" "subst" "0.997974" "00037" "DKC1_000004" "g.153994596G>T" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000010267" "20" "50" "X" "153996414" "153996414" "subst" "0" "00037" "DKC1_000026" "g.153996414C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154768139C>T" "" "VUS" "" "0000010268" "20" "50" "X" "153997123" "153997123" "subst" "0" "00037" "DKC1_000028" "g.153997123G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154768848G>A" "" "VUS" "" "0000011335" "0" "30" "X" "153997291" "153997294" "del" "0" "00037" "DKC1_000029" "g.153997291_153997294del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154769016_154769019del" "" "likely benign" "" "0000011336" "0" "50" "X" "154001559" "154001559" "del" "0" "00037" "DKC1_000031" "g.154001559del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154773284del" "" "VUS" "" "0000016056" "20" "50" "X" "153996339" "153996339" "subst" "0" "00037" "DKC1_000025" "g.153996339A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.154768064A>T" "" "VUS" "" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000171897" "1" "90" "X" "153991245" "153991245" "subst" "0" "00233" "DKC1_000020" "g.153991245C>T" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010076}" "Germline" "" "" "0" "" "" "g.154762970C>T" "" "pathogenic" "" "0000171898" "1" "90" "X" "153993740" "153993740" "subst" "0" "00233" "DKC1_000009" "g.153993740T>G" "" "{PMID:Heiss 1998:9590285}" "" "" "submitted through SIB; {EXP:006811}" "Germline" "" "" "0" "" "" "g.154765465T>G" "" "pathogenic" "" "0000171899" "1" "90" "X" "153993747" "153993747" "subst" "0" "00233" "DKC1_000023" "g.153993747T>C" "" "{PMIDCossu 2002:12437656}" "" "" "submitted through SIB; {EXP:015674}" "Germline" "" "" "0" "" "" "g.154765472T>C" "" "pathogenic" "" "0000171900" "1" "90" "X" "153993749" "153993749" "subst" "0" "00233" "DKC1_000012" "g.153993749A>G" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010077}; de novo in mother" "De novo" "" "" "0" "" "" "g.154765474A>G" "" "pathogenic" "" "0000171901" "1" "90" "X" "153993753" "153993753" "subst" "0" "00233" "DKC1_000008" "g.153993753C>G" "" "{PMID:Heiss 1998:9590285}" "" "" "submitted through SIB; {EXP:006813}" "Germline" "" "" "0" "" "" "g.154765478C>G" "" "pathogenic" "" "0000171902" "1" "90" "X" "153993755" "153993755" "subst" "0" "00233" "DKC1_000019" "g.153993755G>A" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010078}" "Germline" "" "" "0" "" "" "g.154765480G>A" "" "pathogenic" "" "0000171903" "1" "90" "X" "153993780" "153993780" "subst" "0" "00233" "DKC1_000021" "g.153993780C>T" "" "{PMID:Knight 1999:10583221}" "" "" "submitted through SIB; {EXP:015675}" "Germline" "" "" "0" "" "" "g.154765505C>T" "" "pathogenic" "" "0000171904" "1" "90" "X" "153993800" "153993801" "delins" "0" "00233" "DKC1_000001" "g.153993800_153993801delinsTC" "" "{PMID:Kumikova 2009:18802941}" "" "" "submitted through SIB; {EXP:063821}; Variant described as NM_001363:c.166_167invCT (Leu56Ser) in PubMed 18802941" "Germline" "" "" "0" "" "" "g.154765525_154765526delinsTC" "" "pathogenic" "" "0000171905" "1" "90" "X" "153994204" "153994204" "subst" "0" "00233" "DKC1_000018" "g.153994204G>C" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010079}" "Germline" "" "" "0" "" "" "g.154765929G>C" "" "pathogenic" "" "0000171906" "1" "90" "X" "153994206" "153994206" "subst" "0" "00233" "DKC1_000014" "g.153994206A>G" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010080}" "Germline" "" "" "0" "" "" "g.154765931A>G" "" "pathogenic" "" "0000171907" "1" "90" "X" "153994224" "153994224" "subst" "0" "00233" "DKC1_000002" "g.153994224C>T" "" "{PMID:Hamidah 2008:17417794}" "" "" "submitted through SIB; {EXP:063822}" "Germline" "" "" "0" "" "" "g.154765949C>T" "" "pathogenic" "" "0000171908" "1" "90" "X" "153994224" "153994225" "delins" "0" "00233" "DKC1_000010" "g.153994224_153994225delinsTA" "" "{PMID:Heiss 1998:9590285}" "" "" "submitted through SIB; {EXP:006814}" "Germline" "" "" "0" "" "" "g.154765949_154765950delinsTA" "" "pathogenic" "" "0000171909" "1" "90" "X" "153994588" "153994588" "subst" "0" "00233" "DKC1_000022" "g.153994588A>G" "" "{PMID:Knight 1999:10583221}" "" "" "submitted through SIB; {EXP:015676}" "Germline" "" "" "0" "" "" "g.154766313A>G" "" "pathogenic" "" "0000171910" "1" "90" "X" "153999067" "153999067" "subst" "0" "00233" "DKC1_000006" "g.153999067C>T" "" "{PMID:Rostamiani 2010:19879169}" "" "" "submitted through SIB; {EXP:063823}" "Germline" "" "" "0" "" "" "g.154770792C>T" "" "pathogenic" "" "0000171911" "1" "90" "X" "153999079" "153999079" "subst" "0" "00233" "DKC1_000013" "g.153999079C>G" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010081}; de novo in grandparents" "Germline" "" "" "0" "" "" "g.154770804C>G" "" "pathogenic" "" "0000171912" "1" "90" "X" "153999083" "153999083" "subst" "0" "00233" "DKC1_000007" "g.153999083G>A" "" "{PMID:Rostamiani 2010:19879169}" "" "" "submitted through SIB; {EXP:063824}" "Germline" "" "" "0" "" "" "g.154770808G>A" "" "pathogenic" "" "0000171913" "1" "90" "X" "154001418" "154001418" "subst" "0" "00233" "DKC1_000017" "g.154001418T>C" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010083}" "Germline" "" "" "0" "" "" "g.154773143T>C" "" "pathogenic" "" "0000171914" "1" "90" "X" "154001419" "154001419" "subst" "0" "00233" "DKC1_000015" "g.154001419G>A" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010082}" "Germline" "" "" "0" "" "" "g.154773144G>A" "" "pathogenic" "" "0000171915" "1" "90" "X" "154001427" "154001427" "subst" "0" "00233" "DKC1_000003" "g.154001427C>T" "" "{PMID:Ding 2004:15304085}" "" "" "submitted through SIB; {EXP:009264}" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000171916" "1" "90" "X" "154001427" "154001427" "subst" "0" "00233" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:009264}" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000171917" "1" "90" "X" "154002925" "154002925" "subst" "0" "00233" "DKC1_000016" "g.154002925G>A" "" "{PMID:Knight 1999:10364516}" "" "" "submitted through SIB; {EXP:010084}" "Germline" "" "" "0" "" "" "g.154774650G>A" "" "pathogenic" "" "0000171918" "1" "90" "X" "154002926" "154002926" "subst" "0" "00233" "DKC1_000011" "g.154002926G>A" "" "{PMID:Heiss 1998:9590285}" "" "" "submitted through SIB; {EXP:006815}" "Germline" "" "" "0" "" "" "g.154774651G>A" "" "pathogenic" "" "0000171919" "1" "90" "X" "154002947" "154002947" "subst" "0" "00233" "DKC1_000005" "g.154002947C>T" "" "{PMID:Ding 2004:15304085}" "" "" "submitted through SIB; {EXP:063825}" "Germline" "" "" "0" "" "" "g.154774672C>T" "" "pathogenic" "" "0000171920" "1" "50" "X" "154004584" "154004584" "subst" "0.0517599" "00006" "DKC1_000024" "g.154004584C>T" "5/208 families" "{PMID:Tarpey 2009:19377476}" "" "A487A" "recurrent, found 5 times" "Germline" "" "" "0" "" "" "g.154776309C>T" "" "VUS" "" "0000171921" "1" "90" "X" "153991100" "153991100" "subst" "0" "00006" "DKC1_000033" "g.153991100C>G" "" "{PMID:Knight 2001:11379875}" "" "" "disrupts a canonical Sp1 transcription factor binding site; not in 100 control chromosomes" "Germline" "yes" "" "0" "" "" "g.154762825C>G" "" "pathogenic" "" "0000171922" "1" "90" "X" "153991099" "153991099" "subst" "0" "00006" "DKC1_000058" "g.153991099C>G" "" "{PMID:Dokal 2000:11054058}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154762824C>G" "" "pathogenic" "" "0000171924" "21" "90" "X" "153991848" "153991848" "subst" "0" "00006" "DKC1_000032" "g.153991848C>G" "" "{PMID:Knight 2001:11379875}" "" "r.16_17ins247, 16+343_589" "variant not in 80 control chromosomes" "Germline" "" "" "0" "" "" "g.154763573C>G" "" "pathogenic" "" "0000171925" "1" "90" "X" "153993186" "153993186" "subst" "0" "00006" "DKC1_000059" "g.153993186C>T" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154764911C>T" "" "pathogenic" "" "0000171926" "1" "90" "X" "153993714" "153993714" "subst" "0" "00006" "DKC1_000060" "g.153993714C>G" "" "{PMID:Knight 1999:10364516}" "" "" "{DB-TEL:dkc1}" "De novo" "" "" "0" "" "" "g.154765439C>G" "" "pathogenic" "" "0000171927" "1" "90" "X" "153993725" "153993725" "subst" "0" "00006" "DKC1_000061" "g.153993725C>A" "" "{PMID:Kanegane 2005:15842668}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765450C>A" "" "pathogenic" "" "0000171928" "1" "90" "X" "153993725" "153993725" "subst" "0" "00006" "DKC1_000062" "g.153993725C>G" "" "{PMID:Wong 2004:15349768}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765450C>G" "" "pathogenic" "" "0000171929" "1" "90" "X" "153993740" "153993740" "subst" "0" "00006" "DKC1_000009" "g.153993740T>G" "" "{PMID:Heiss 1998:9888995}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765465T>G" "" "pathogenic" "" "0000171930" "1" "90" "X" "153993743" "153993745" "del" "0" "00006" "DKC1_000063" "g.153993743_153993745del" "" "{PMID:Heiss 1998:9888995}" "" "c.109_111delCTT" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765468_154765470del" "" "pathogenic" "" "0000171931" "1" "90" "X" "153993748" "153993748" "subst" "0" "00006" "DKC1_000046" "g.153993748C>G" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765473C>G" "" "pathogenic" "" "0000171932" "1" "90" "X" "153993753" "153993753" "subst" "0" "00006" "DKC1_000008" "g.153993753C>G" "" "{PMID:Heiss 1998:9888995}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765478C>G" "" "pathogenic" "" "0000171933" "1" "90" "X" "153993761" "153993761" "subst" "0" "00006" "DKC1_000047" "g.153993761A>G" "" "{PMID:Heiss 2001:11491307}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765486A>G" "" "pathogenic" "" "0000171934" "1" "90" "X" "153993779" "153993779" "subst" "0" "00006" "DKC1_000048" "g.153993779A>T" "" "{PMID:Alder 2013:21757622}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765504A>T" "" "pathogenic" "" "0000171935" "1" "90" "X" "153994206" "153994206" "subst" "0" "00006" "DKC1_000014" "g.153994206A>G" "" "{PMID:Hassock 1999:9888995}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765931A>G" "" "pathogenic" "" "0000171936" "1" "90" "X" "153994210" "153994210" "subst" "0" "00006" "DKC1_000049" "g.153994210C>T" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765935C>T" "" "pathogenic" "" "0000171937" "1" "90" "X" "153994212" "153994212" "subst" "0" "00006" "DKC1_000050" "g.153994212C>T" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765937C>T" "" "pathogenic" "" "0000171938" "1" "90" "X" "153994214" "153994214" "subst" "0" "00006" "DKC1_000051" "g.153994214C>A" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765939C>A" "" "pathogenic" "" "0000171939" "1" "90" "X" "153994224" "153994225" "delins" "0" "00006" "DKC1_000010" "g.153994224_153994225delinsTA" "" "{PMID:Heiss 1998:9888995}" "" "c.214_215CT>TA" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765949_154765950delinsTA" "" "pathogenic" "" "0000171940" "1" "90" "X" "153994237" "153994237" "subst" "0" "00006" "DKC1_000052" "g.153994237C>T" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154765962C>T" "" "pathogenic" "" "0000171941" "1" "90" "X" "153995295" "153995295" "subst" "0" "00006" "DKC1_000034" "g.153995295C>T" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154767020C>T" "" "pathogenic" "" "0000171942" "1" "90" "X" "153997508" "153997508" "subst" "0.00027962" "00006" "DKC1_000035" "g.153997508A>C" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154769233A>C" "" "pathogenic" "" "0000171943" "1" "90" "X" "153997581" "153997581" "subst" "0" "00006" "DKC1_000053" "g.153997581G>A" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154769306G>A" "" "pathogenic" "" "0000171944" "1" "90" "X" "153999059" "153999059" "subst" "0" "00006" "DKC1_000054" "g.153999059A>G" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154770784A>G" "" "pathogenic" "" "0000171945" "1" "90" "X" "153999067" "153999067" "subst" "0" "00006" "DKC1_000055" "g.153999067C>G" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154770792C>G" "" "pathogenic" "" "0000171946" "1" "90" "X" "153999067" "153999067" "subst" "0" "00006" "DKC1_000006" "g.153999067C>T" "" "{PMID:Marrone 2003:12737310}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154770792C>T" "" "pathogenic" "" "0000171947" "1" "90" "X" "153999083" "153999083" "subst" "0" "00006" "DKC1_000007" "g.153999083G>A" "" "{PMID:Marrone 2003:12737310}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154770808G>A" "" "pathogenic" "" "0000171948" "1" "90" "X" "154001438" "154001438" "subst" "0" "00006" "DKC1_000056" "g.154001438A>G" "" "{PMID:Kanegane 2005:15842668}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154773163A>G" "" "pathogenic" "" "0000171949" "1" "90" "X" "154001444" "154001444" "subst" "0" "00006" "DKC1_000057" "g.154001444G>A" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154773169G>A" "" "pathogenic" "" "0000171950" "1" "90" "X" "154001502" "154001502" "subst" "0" "00006" "DKC1_000038" "g.154001502G>A" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154773227G>A" "" "pathogenic" "" "0000171951" "1" "90" "X" "154001519" "154001519" "subst" "0" "00006" "DKC1_000039" "g.154001519C>T" "" "{PMID:Marrone 2003:12737310}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154773244C>T" "" "pathogenic" "" "0000171952" "1" "90" "X" "154001520" "154001520" "subst" "0" "00006" "DKC1_000036" "g.154001520C>T" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154773245C>T" "" "pathogenic" "" "0000171953" "1" "90" "X" "154002877" "154002877" "subst" "0" "00006" "DKC1_000040" "g.154002877G>A" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154774602G>A" "" "pathogenic" "" "0000171954" "1" "90" "X" "154002914" "154002914" "subst" "0" "00006" "DKC1_000041" "g.154002914T>C" "" "{PMID:Hiramatsu 2002:12186364}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154774639T>C" "" "pathogenic" "" "0000171955" "1" "90" "X" "154002926" "154002926" "subst" "0" "00006" "DKC1_000011" "g.154002926G>A" "" "{PMID:Heiss 1998:9888995}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154774651G>A" "" "pathogenic" "" "0000171956" "1" "90" "X" "154002944" "154002944" "subst" "0" "00006" "DKC1_000042" "g.154002944C>T" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154774669C>T" "" "pathogenic" "" "0000171957" "1" "90" "X" "154002947" "154002947" "subst" "0" "00006" "DKC1_000043" "g.154002947C>G" "" "{PMID:Alder 2013:21757622}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154774672C>G" "" "pathogenic" "" "0000171958" "1" "90" "X" "154002979" "154002980" "delins" "0" "00006" "DKC1_000044" "g.154002979_154002980delinsTA" "" "{PMID:Vulliamy 2006:16332973}" "" "c.1258_1259AG>TA" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154774704_154774705delinsTA" "" "pathogenic" "" "0000171959" "1" "90" "X" "154005072" "154005072" "subst" "0" "00006" "DKC1_000045" "g.154005072A>G" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:dkc1}" "Germline" "" "" "0" "" "" "g.154776797A>G" "" "pathogenic" "" "0000171960" "21" "90" "X" "154004650" "154006594" "del" "0" "00006" "DKC1_000037" "g.154004650_154006594del" "" "{PMID:Vulliamy 1999:10438713}" "" "" "normal levels of mRNA" "Germline" "yes" "" "0" "" "" "g.154776375_154778319del" "" "pathogenic" "" "0000171961" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000171962" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000171963" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000171964" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000171965" "1" "90" "X" "154001418" "154001418" "subst" "0" "00006" "DKC1_000017" "g.154001418T>C" "" "{PMID:Knight 2001:11379875}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.154773143T>C" "" "pathogenic" "" "0000242633" "1" "10" "X" "154005148" "154005148" "subst" "0.147191" "00006" "DKC1_000064" "g.154005148G>A" "11/100 controls" "{PMID:Knight 1999:10364516}" "" "" "" "Germline" "" "" "0" "" "" "g.154776873G>A" "" "benign" "" "0000242634" "1" "10" "X" "154005111" "154005113" "dup" "0" "00006" "DKC1_000065" "g.154005111_154005113dup" "6/182 control chromosomes" "{PMID:Knight 1999:10364516}" "" "" "found in 0/100 UK, 3/53 Greek and 3/29 Turkish chromosomes" "Germline" "" "" "0" "" "" "g.154776836_154776838dup" "" "benign" "" "0000242635" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242636" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242637" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242638" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "De novo" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242639" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "De novo" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242640" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242641" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "De novo" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242642" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242643" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "" "De novo" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000242644" "1" "90" "X" "154001427" "154001427" "subst" "0" "00006" "DKC1_000003" "g.154001427C>T" "" "{PMID:Knight 1999:10364516}" "" "" "de novo in grand parents" "Germline" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000251850" "0" "30" "X" "153997446" "153997446" "subst" "0.000816605" "02326" "DKC1_000070" "g.153997446A>C" "" "" "" "DKC1(NM_001288747.1):c.776A>C (p.H259P), DKC1(NM_001363.3):c.776A>C (p.H259P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154769171A>C" "" "likely benign" "" "0000255043" "0" "30" "X" "153994581" "153994581" "subst" "0" "01943" "DKC1_000068" "g.153994581A>C" "" "" "" "DKC1(NM_001288747.1):c.354A>C (p.T118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154766306A>C" "" "likely benign" "" "0000255369" "0" "50" "X" "153997508" "153997508" "subst" "0.00027962" "01943" "DKC1_000035" "g.153997508A>C" "" "" "" "DKC1(NM_001142463.1):c.838A>C (p.(Ser280Arg)), DKC1(NM_001288747.1):c.838A>C (p.S280R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154769233A>C" "" "VUS" "" "0000256177" "0" "50" "X" "154004555" "154004555" "subst" "0" "01943" "DKC1_000072" "g.154004555A>C" "" "" "" "DKC1(NM_001363.3):c.1432A>C (p.K478Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776280A>C" "" "VUS" "" "0000267402" "0" "10" "X" "153994596" "153994596" "subst" "0.997974" "02325" "DKC1_000004" "g.153994596G>T" "" "" "" "DKC1(NM_001363.5):c.369G>T (p.T123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154766321G>T" "" "benign" "" "0000268692" "0" "30" "X" "154005106" "154005111" "del" "0" "02329" "DKC1_000077" "g.154005106_154005111del" "" "" "" "DKC1(NM_001363.3):c.1509_1514delGAAGAA (p.K504_K505del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776831_154776836del" "" "likely benign" "" "0000268693" "0" "30" "X" "154005109" "154005111" "del" "0" "02329" "DKC1_000076" "g.154005109_154005111del" "" "" "" "DKC1(NM_001142463.1):c.1497_1499del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776834_154776836del" "" "likely benign" "" "0000270816" "0" "30" "X" "153994481" "153994481" "subst" "0" "02326" "DKC1_000067" "g.153994481T>C" "" "" "" "DKC1(NM_001363.3):c.264-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154766206T>C" "" "likely benign" "" "0000275075" "0" "30" "X" "153991222" "153991222" "subst" "0.000643842" "01943" "DKC1_000066" "g.153991222G>C" "" "" "" "DKC1(NM_001363.3):c.-19G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154762947G>C" "" "likely benign" "" "0000275076" "0" "30" "X" "154004565" "154004565" "subst" "0" "01943" "DKC1_000073" "g.154004565C>G" "" "" "" "DKC1(NM_001363.3):c.1442C>G (p.A481G, p.(Ala481Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776290C>G" "" "likely benign" "" "0000275077" "0" "30" "X" "154004579" "154004579" "subst" "0.000508425" "01943" "DKC1_000074" "g.154004579G>A" "" "" "" "DKC1(NM_001142463.1):c.1441G>A (p.(Gly481Arg)), DKC1(NM_001363.3):c.1456G>A (p.G486R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776304G>A" "" "likely benign" "" "0000275081" "0" "30" "X" "153997593" "153997593" "subst" "0.000324528" "01943" "DKC1_000071" "g.153997593C>T" "" "" "" "DKC1(NM_001288747.1):c.915+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154769318C>T" "" "likely benign" "" "0000291966" "0" "50" "X" "154007604" "154007606" "del" "0" "01943" "MPP1_000007" "g.154007604_154007606del" "" "" "" "MPP1(NM_001166462.1):c.1159_1161delAAG (p.K387del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154779329_154779331del" "" "VUS" "" "0000336285" "0" "50" "X" "153995316" "153995316" "subst" "0" "01804" "DKC1_000069" "g.153995316G>A" "" "" "" "DKC1(NM_001142463.1):c.493G>A (p.(Gly165Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154767041G>A" "" "VUS" "" "0000336286" "0" "50" "X" "153997508" "153997508" "subst" "0.00027962" "01804" "DKC1_000035" "g.153997508A>C" "" "" "" "DKC1(NM_001142463.1):c.838A>C (p.(Ser280Arg)), DKC1(NM_001288747.1):c.838A>C (p.S280R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154769233A>C" "" "VUS" "" "0000336287" "0" "30" "X" "154005109" "154005111" "del" "0" "01804" "DKC1_000076" "g.154005109_154005111del" "" "" "" "DKC1(NM_001142463.1):c.1497_1499del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776834_154776836del" "" "likely benign" "" "0000337277" "0" "10" "X" "154005148" "154005148" "subst" "0.147191" "02327" "DKC1_000064" "g.154005148G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776873G>A" "" "benign" "" "0000337278" "0" "30" "X" "154005239" "154005239" "subst" "0" "02327" "DKC1_000083" "g.154005239A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776964A>G" "" "likely benign" "" "0000339486" "0" "10" "X" "154004584" "154004584" "subst" "0.0517599" "02327" "DKC1_000024" "g.154004584C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154776309C>T" "" "benign" "" "0000341389" "0" "90" "X" "154001427" "154001427" "subst" "0" "02327" "DKC1_000003" "g.154001427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154773152C>T" "" "pathogenic" "" "0000345379" "0" "90" "X" "153993737" "153993737" "subst" "0" "02327" "DKC1_000081" "g.153993737G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154765462G>A" "" "pathogenic" "" "0000348438" "0" "90" "X" "153993753" "153993753" "subst" "0" "02327" "DKC1_000008" "g.153993753C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154765478C>G" "" "pathogenic" "" "0000348678" "0" "90" "X" "153994588" "153994588" "subst" "0" "02327" "DKC1_000022" "g.153994588A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154766313A>G" "" "pathogenic" "" "0000348904" "0" "50" "X" "153997508" "153997508" "subst" "0.00027962" "02327" "DKC1_000035" "g.153997508A>C" "" "" "" "DKC1(NM_001142463.1):c.838A>C (p.(Ser280Arg)), DKC1(NM_001288747.1):c.838A>C (p.S280R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154769233A>C" "" "VUS" "" "0000349540" "0" "90" "X" "153993780" "153993780" "subst" "0" "02327" "DKC1_000021" "g.153993780C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154765505C>T" "" "pathogenic" "" "0000350943" "0" "30" "X" "153991099" "153991099" "subst" "0" "02327" "DKC1_000058" "g.153991099C>G" "" "" "" "DKC1(NM_001142463.1):c.-142C>G (p.?), DKC1(NM_001363.3):c.-142C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154762824C>G" "" "likely benign" "" "0000574980" "0" "50" "X" "153993762" "153993762" "subst" "1.11866E-5" "01943" "DKC1_000084" "g.153993762A>G" "" "" "" "DKC1(NM_001288747.1):c.128A>G (p.K43R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154765487A>G" "" "VUS" "" "0000574981" "0" "30" "X" "153994482" "153994482" "subst" "0" "01943" "DKC1_000085" "g.153994482C>T" "" "" "" "DKC1(NM_001288747.1):c.264-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154766207C>T" "" "likely benign" "" "0000574982" "0" "30" "X" "153994483" "153994483" "subst" "0" "01804" "DKC1_000086" "g.153994483C>T" "" "" "" "DKC1(NM_001142463.1):c.264-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154766208C>T" "" "likely benign" "" "0000574983" "0" "30" "X" "153994484" "153994484" "subst" "0" "01804" "DKC1_000087" "g.153994484A>T" "" "" "" "DKC1(NM_001142463.1):c.264-7A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154766209A>T" "" "likely benign" "" "0000574984" "0" "30" "X" "153995320" "153995320" "subst" "0" "02327" "DKC1_000088" "g.153995320G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154767045G>T" "" "likely benign" "" "0000574985" "0" "10" "X" "153997446" "153997446" "subst" "0.000816605" "01943" "DKC1_000070" "g.153997446A>C" "" "" "" "DKC1(NM_001288747.1):c.776A>C (p.H259P), DKC1(NM_001363.3):c.776A>C (p.H259P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154769171A>C" "" "benign" "" "0000574986" "0" "30" "X" "153997558" "153997558" "subst" "0" "01943" "DKC1_000089" "g.153997558T>C" "" "" "" "DKC1(NM_001363.3):c.888T>C (p.H296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154769283T>C" "" "likely benign" "" "0000574988" "0" "30" "X" "154004579" "154004579" "subst" "0.000508425" "01804" "DKC1_000074" "g.154004579G>A" "" "" "" "DKC1(NM_001142463.1):c.1441G>A (p.(Gly481Arg)), DKC1(NM_001363.3):c.1456G>A (p.G486R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776304G>A" "" "likely benign" "" "0000574990" "0" "50" "X" "154005106" "154005111" "dup" "0" "01943" "DKC1_000091" "g.154005106_154005111dup" "" "" "" "DKC1(NM_001363.3):c.1509_1514dupGAAGAA (p.K504_K505dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776831_154776836dup" "" "VUS" "" "0000574991" "0" "10" "X" "154005109" "154005111" "del" "0" "01943" "DKC1_000076" "g.154005109_154005111del" "" "" "" "DKC1(NM_001142463.1):c.1497_1499del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776834_154776836del" "" "benign" "" "0000574993" "0" "50" "X" "154005109" "154005111" "dup" "0" "01943" "DKC1_000092" "g.154005109_154005111dup" "" "" "" "DKC1(NM_001142463.1):c.1497_1499dup (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K505dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776834_154776836dup" "" "VUS" "" "0000574994" "0" "30" "X" "154005109" "154005111" "dup" "0" "02325" "DKC1_000092" "g.154005109_154005111dup" "" "" "" "DKC1(NM_001142463.1):c.1497_1499dup (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K505dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776834_154776836dup" "" "likely benign" "" "0000574995" "0" "30" "X" "154005109" "154005111" "dup" "0" "02329" "DKC1_000092" "g.154005109_154005111dup" "" "" "" "DKC1(NM_001142463.1):c.1497_1499dup (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K505dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776834_154776836dup" "" "likely benign" "" "0000574996" "0" "10" "X" "154005109" "154005111" "dup" "0" "02326" "DKC1_000092" "g.154005109_154005111dup" "" "" "" "DKC1(NM_001142463.1):c.1497_1499dup (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K505dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776834_154776836dup" "" "benign" "" "0000574997" "0" "50" "X" "154005125" "154005125" "subst" "0" "01943" "DKC1_000093" "g.154005125G>A" "" "" "" "DKC1(NM_001363.3):c.1528G>A (p.E510K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154776850G>A" "" "VUS" "" "0000574998" "0" "50" "X" "154009534" "154009534" "subst" "0" "01804" "DKC1_000094" "g.154009534G>A" "" "" "" "MPP1(NM_001166460.1):c.1153C>T (p.(Pro385Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154781259G>A" "" "VUS" "" "0000619348" "0" "50" "X" "153995314" "153995314" "subst" "0" "02325" "DKC1_000095" "g.153995314A>T" "" "" "" "DKC1(NM_001288747.2):c.491A>T (p.E164V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154767039A>T" "" "VUS" "" "0000619349" "0" "50" "X" "154003522" "154003522" "subst" "0" "01943" "DKC1_000096" "g.154003522G>T" "" "" "" "DKC1(NM_001363.3):c.1312G>T (p.V438F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154775247G>T" "" "VUS" "" "0000652852" "1" "10" "X" "154004584" "154004584" "subst" "0.0517599" "03575" "DKC1_000024" "g.154004584C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous; {DB:CLININrs1127051}" "Germline" "" "rs1127051" "0" "" "" "g.154776309C>T" "" "benign" "" "0000670100" "0" "10" "X" "154004584" "154004584" "subst" "0.0517599" "03575" "DKC1_000024" "g.154004584C>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 homozygous; {DB:CLININrs1127051}" "Germline" "" "rs1127051" "0" "" "" "g.154776309C>T" "" "benign" "" "0000682290" "0" "30" "X" "154005109" "154005111" "dup" "0" "01804" "DKC1_000092" "g.154005109_154005111dup" "" "" "" "DKC1(NM_001142463.1):c.1497_1499dup (p.(Lys500dup)), DKC1(NM_001363.3):c.1512_1514dupGAA (p.K505dup), DKC1(NM_001363.5):c.1512_1514dupGAA (p.K505dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728692" "0" "30" "X" "154003551" "154003551" "subst" "0" "01943" "DKC1_000097" "g.154003551G>A" "" "" "" "DKC1(NM_001288747.1):c.*564+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728693" "0" "10" "X" "154005109" "154005111" "del" "0" "02325" "DKC1_000076" "g.154005109_154005111del" "" "" "" "DKC1(NM_001142463.1):c.1497_1499del (p.(Lys500del)), DKC1(NM_001363.3):c.1512_1514delGAA (p.K505del), DKC1(NM_001363.5):c.1512_1514delGAA (p.K505del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000735484" "0" "70" "X" "154005109" "154005109" "subst" "0" "04011" "DKC1_000098" "g.154005109G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000764708" "0" "70" "X" "153993746" "153993750" "delins" "0" "00006" "DKC1_000099" "g.153993746_153993750delinsTCAAC" "" "{PMID:Tsangaris 2011:21659346}" "" "112_116delATCAAinsTCAAC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.154765471_154765475delinsTCAAC" "" "likely pathogenic (recessive)" "" "0000764709" "0" "70" "X" "154002981" "154002981" "subst" "0" "00006" "DKC1_000100" "g.154002981G>A" "" "{PMID:Tsangaris 2011:21659346}" "" "IVS12+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.154774706G>A" "" "likely pathogenic (recessive)" "" "0000896037" "0" "30" "X" "153991099" "153991099" "subst" "0" "02326" "DKC1_000058" "g.153991099C>G" "" "" "" "DKC1(NM_001142463.1):c.-142C>G (p.?), DKC1(NM_001363.3):c.-142C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896038" "0" "30" "X" "153993821" "153993821" "subst" "5.5956E-6" "02326" "DKC1_000101" "g.153993821C>T" "" "" "" "DKC1(NM_001363.3):c.171+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902114" "0" "50" "X" "153999158" "153999158" "subst" "0" "03779" "DKC1_000102" "g.153999158A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000915658" "0" "30" "X" "153996720" "153996720" "subst" "0.00139814" "02326" "DKC1_000103" "g.153996720G>A" "" "" "" "DKC1(NM_001363.3):c.771+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920296" "21" "70" "X" "153992350" "154006474" "dup" "0" "00006" "DKC1_000104" "g.153992350_154006474dup" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "dup ex2-15, hg19 (153992076-154006200)x2" "carrier females (90.2/4) skewed X-chromosome inactivation in blood" "Germline" "" "" "0" "" "" "g.154764075_154778199dup" "" "likely pathogenic" "ACMG" "0001006601" "0" "50" "X" "153991099" "153991099" "subst" "0" "01804" "DKC1_000058" "g.153991099C>G" "" "" "" "DKC1(NM_001142463.1):c.-142C>G (p.?), DKC1(NM_001363.3):c.-142C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006602" "0" "30" "X" "153994481" "153994481" "dup" "0" "02329" "DKC1_000106" "g.153994481dup" "" "" "" "DKC1(NM_001363.5):c.264-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006603" "0" "50" "X" "153995624" "153995624" "subst" "0" "01804" "DKC1_000107" "g.153995624A>G" "" "" "" "DKC1(NM_001363.3):c.607A>G (p.(Lys203Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006604" "0" "50" "X" "154004565" "154004565" "subst" "0" "01804" "DKC1_000073" "g.154004565C>G" "" "" "" "DKC1(NM_001363.3):c.1442C>G (p.A481G, p.(Ala481Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044227" "0" "30" "X" "153994481" "153994481" "del" "0" "01804" "DKC1_000108" "g.153994481del" "" "" "" "DKC1(NM_001363.5):c.264-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044228" "0" "30" "X" "153994679" "153994679" "subst" "0" "01804" "DKC1_000109" "g.153994679T>C" "" "" "" "DKC1(NM_001363.5):c.448+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DKC1 ## Count = 158 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000001303" "00000191" "50" "196" "0" "196" "0" "c.196A>G" "r.(?)" "p.(Thr66Ala)" "4" "" "0000003349" "00000191" "30" "264" "-22" "264" "-22" "c.264-22del" "r.(?)" "p.(=)" "4i" "" "0000003350" "00000191" "30" "772" "-147" "772" "-147" "c.772-147del" "r.(?)" "p.(=)" "8i" "" "0000003351" "00000191" "50" "1155" "35" "1155" "35" "c.1155+35del" "r.(=)" "p.(=)" "" "" "0000008088" "00000191" "50" "369" "0" "369" "0" "c.369G>T" "r.(?)" "p.(=)" "5" "" "0000008089" "00000191" "50" "641" "-238" "641" "-238" "c.641-238A>T" "r.(=)" "p.(=)" "" "" "0000008090" "00000191" "50" "641" "-163" "641" "-163" "c.641-163C>T" "r.(=)" "p.(=)" "" "" "0000008091" "00000191" "50" "772" "-319" "772" "-319" "c.772-319G>A" "r.(=)" "p.(=)" "" "" "0000010266" "00000191" "50" "369" "0" "369" "0" "c.369G>T" "r.(?)" "p.(=)" "5" "" "0000010267" "00000191" "50" "641" "-163" "641" "-163" "c.641-163C>T" "r.(=)" "p.(=)" "" "" "0000010268" "00000191" "50" "772" "-319" "772" "-319" "c.772-319G>A" "r.(=)" "p.(=)" "" "" "0000011335" "00000191" "30" "772" "-151" "772" "-148" "c.772-151_772-148del" "r.(?)" "p.(=)" "8i" "" "0000011336" "00000191" "50" "1155" "35" "1155" "35" "c.1155+35del" "r.(=)" "p.(=)" "" "" "0000016056" "00000191" "50" "641" "-238" "641" "-238" "c.641-238A>T" "r.(=)" "p.(=)" "" "" "0000079618" "00000191" "00" "-425400" "0" "718832" "0" "c.-425400_*717287dup" "" "" "" "" "0000171897" "00000191" "90" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "1" "" "0000171898" "00000191" "90" "106" "0" "106" "0" "c.106T>G" "r.(?)" "p.(Phe36Val)" "3" "" "0000171899" "00000191" "90" "113" "0" "113" "0" "c.113T>C" "r.(?)" "p.(Ile38Thr)" "3" "" "0000171900" "00000191" "90" "115" "0" "115" "0" "c.115A>G" "r.(?)" "p.(Lys39Glu)" "3" "" "0000171901" "00000191" "90" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Pro40Arg)" "3" "" "0000171902" "00000191" "90" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Glu41Lys)" "3" "" "0000171903" "00000191" "90" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Thr49Met)" "3" "" "0000171904" "00000191" "90" "166" "0" "167" "0" "c.166_167delinsTC" "r.(?)" "p.(Leu56Ser)" "3" "" "0000171905" "00000191" "90" "194" "0" "194" "0" "c.194G>C" "r.(?)" "p.(Arg65Thr)" "4" "" "0000171906" "00000191" "90" "196" "0" "196" "0" "c.196A>G" "r.(?)" "p.(Thr66Ala)" "4" "" "0000171907" "00000191" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Leu72Phe)" "4" "" "0000171908" "00000191" "90" "214" "0" "215" "0" "c.214_215delinsTA" "r.(?)" "p.(Leu72Tyr)" "4" "" "0000171909" "00000191" "90" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Ser121Gly)" "5" "TruB" "0000171910" "00000191" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Leu317Phe)" "10" "" "0000171911" "00000191" "90" "961" "0" "961" "0" "c.961C>G" "r.(?)" "p.(Leu321Val)" "10" "PUA" "0000171912" "00000191" "90" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Arg322Gln)" "10" "" "0000171913" "00000191" "90" "1049" "0" "1049" "0" "c.1049T>C" "r.(?)" "p.(Met350Thr)" "11" "PUA" "0000171914" "00000191" "90" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Met350Ile)" "11" "PUA" "0000171915" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000171916" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "PUA" "0000171917" "00000191" "90" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Gly402Arg)" "12" "" "0000171918" "00000191" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Gly402Glu)" "12" "" "0000171919" "00000191" "90" "1226" "0" "1226" "0" "c.1226C>T" "r.(?)" "p.(Pro409Leu)" "12" "" "0000171920" "00000191" "50" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ala487=)" "14" "" "0000171921" "00000191" "90" "-141" "0" "-141" "0" "c.-141C>G" "r.(?)" "p.(=)" "1" "5\'UTR" "0000171922" "00000191" "90" "-142" "0" "-142" "0" "c.-142C>G" "r.(?)" "p.(=)" "1" "5\'UTR" "0000171924" "00000191" "90" "16" "592" "16" "592" "c.16+592C>G" "r.[16_17ins16+343_16+589,=]" "p.[Val6Alafs*5,=]" "1i" "" "0000171925" "00000191" "90" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "2" "" "0000171926" "00000191" "90" "85" "-5" "85" "-5" "c.85-5C>G" "r.spl" "p.?" "2i" "" "0000171927" "00000191" "90" "91" "0" "91" "0" "c.91C>A" "r.(?)" "p.(Gln31Lys)" "3" "" "0000171928" "00000191" "90" "91" "0" "91" "0" "c.91C>G" "r.(?)" "p.(Gln31Glu)" "3" "" "0000171929" "00000191" "90" "106" "0" "106" "0" "c.106T>G" "r.(?)" "p.(Phe36Val)" "3" "" "0000171930" "00000191" "90" "109" "0" "111" "0" "c.109_111del" "r.(?)" "p.(Leu37del)" "3" "" "0000171931" "00000191" "90" "114" "0" "114" "0" "c.114C>G" "r.(?)" "p.(Ile38Met)" "3" "" "0000171932" "00000191" "90" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Pro40Arg)" "3" "" "0000171933" "00000191" "90" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Lys43Glu)" "3" "" "0000171934" "00000191" "90" "145" "0" "145" "0" "c.145A>T" "r.(?)" "p.(Thr49Ser)" "3" "" "0000171935" "00000191" "90" "196" "0" "196" "0" "c.196A>G" "r.(?)" "p.(Thr66Ala)" "4" "" "0000171936" "00000191" "90" "200" "0" "200" "0" "c.200C>T" "r.(?)" "p.(Thr67Ile)" "4" "" "0000171937" "00000191" "90" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(His68Tyr)" "4" "" "0000171938" "00000191" "90" "204" "0" "204" "0" "c.204C>A" "r.(?)" "p.(His68Gln)" "4" "" "0000171939" "00000191" "90" "214" "0" "215" "0" "c.214_215delinsTA" "r.(?)" "p.(Leu72Tyr)" "4" "" "0000171940" "00000191" "90" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Ser76Leu)" "4" "" "0000171941" "00000191" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "6" "TruB" "0000171942" "00000191" "90" "838" "0" "838" "0" "c.838A>C" "r.(?)" "p.(Ser280Arg)" "9" "" "0000171943" "00000191" "90" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Ser304Asn)" "9" "PUA" "0000171944" "00000191" "90" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Lys314Arg)" "10" "PUA" "0000171945" "00000191" "90" "949" "0" "949" "0" "c.949C>G" "r.(?)" "p.(Leu317Val)" "10" "PUA" "0000171946" "00000191" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Leu317Phe)" "10" "PUA" "0000171947" "00000191" "90" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Arg322Gln)" "10" "PUA" "0000171948" "00000191" "90" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.(Thr357Ala)" "11" "PUA" "0000171949" "00000191" "90" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Asp359Asn)" "11" "PUA" "0000171950" "00000191" "90" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378Gln)" "11" "" "0000171951" "00000191" "90" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Pro384Ser)" "11" "" "0000171952" "00000191" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Pro384Leu)" "11" "" "0000171953" "00000191" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Ala386Thr)" "12" "" "0000171954" "00000191" "90" "1193" "0" "1193" "0" "c.1193T>C" "r.(?)" "p.(Leu398Pro)" "12" "" "0000171955" "00000191" "90" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Gly402Glu)" "12" "" "0000171956" "00000191" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "12" "" "0000171957" "00000191" "90" "1226" "0" "1226" "0" "c.1226C>G" "r.(?)" "p.(Pro409Arg)" "12" "" "0000171958" "00000191" "90" "1258" "0" "1259" "0" "c.1258_1259delinsTA" "r.(?)" "p.(Ser420Tyr)" "12" "" "0000171959" "00000191" "90" "1477" "-2" "1477" "-2" "c.1477-2A>G" "r.spl" "p.?" "14i" "" "0000171960" "00000191" "90" "1476" "51" "2997" "0" "c.1476+51_*1452del" "r.1477_*821delins1476+1_1476+50ins*1453_*1954" "p.Asp493Valfs*13" "14i_15_" "" "0000171961" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000171962" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000171963" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000171964" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000171965" "00000191" "90" "1049" "0" "1049" "0" "c.1049T>C" "r.(?)" "p.(Met350Thr)" "11" "" "0000242633" "00000191" "10" "1551" "0" "1551" "0" "c.*6G>A" "r.(?)" "p.(=)" "15" "" "0000242634" "00000191" "10" "1514" "0" "1516" "0" "c.1514_1516dup" "r.(?)" "p.(Lys505_Ala506insGlu)" "15" "" "0000242635" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242636" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242637" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242638" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242639" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242640" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242641" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242642" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242643" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000242644" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "11" "" "0000251850" "00000191" "30" "776" "0" "776" "0" "c.776A>C" "r.(?)" "p.(His259Pro)" "" "" "0000255043" "00000191" "30" "354" "0" "354" "0" "c.354A>C" "r.(?)" "p.(Thr118=)" "" "" "0000255369" "00000191" "50" "838" "0" "838" "0" "c.838A>C" "r.(?)" "p.(Ser280Arg)" "" "" "0000256177" "00000191" "50" "1432" "0" "1432" "0" "c.1432A>C" "r.(?)" "p.(Lys478Gln)" "" "" "0000267402" "00000191" "10" "369" "0" "369" "0" "c.369=" "r.(=)" "p.(Thr123=)" "" "" "0000268692" "00000191" "30" "1509" "0" "1514" "0" "c.1509_1514del" "r.(?)" "p.(Lys504_Lys505del)" "" "" "0000268693" "00000191" "30" "1512" "0" "1514" "0" "c.1512_1514del" "r.(?)" "p.(Lys505del)" "" "" "0000270816" "00000191" "30" "264" "-10" "264" "-10" "c.264-10T>C" "r.(=)" "p.(=)" "" "" "0000275075" "00000191" "30" "-19" "0" "-19" "0" "c.-19G>C" "r.(?)" "p.(=)" "" "" "0000275076" "00000191" "30" "1442" "0" "1442" "0" "c.1442C>G" "r.(?)" "p.(Ala481Gly)" "" "" "0000275077" "00000191" "30" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Gly486Arg)" "" "" "0000275081" "00000191" "30" "915" "8" "915" "8" "c.915+8C>T" "r.(=)" "p.(=)" "" "" "0000291966" "00000191" "50" "4007" "0" "4009" "0" "c.*2462_*2464del" "r.(=)" "p.(=)" "" "" "0000336285" "00000191" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Gly165Arg)" "" "" "0000336286" "00000191" "50" "838" "0" "838" "0" "c.838A>C" "r.(?)" "p.(Ser280Arg)" "" "" "0000336287" "00000191" "30" "1512" "0" "1514" "0" "c.1512_1514del" "r.(?)" "p.(Lys505del)" "" "" "0000337277" "00000191" "10" "1551" "0" "1551" "0" "c.*6G>A" "r.(=)" "p.(=)" "" "" "0000337278" "00000191" "30" "1642" "0" "1642" "0" "c.*97A>G" "r.(=)" "p.(=)" "" "" "0000339486" "00000191" "10" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ala487=)" "" "" "0000341389" "00000191" "90" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Ala353Val)" "" "" "0000345379" "00000191" "90" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Glu35Lys)" "" "" "0000348438" "00000191" "90" "119" "0" "119" "0" "c.119C>G" "r.(?)" "p.(Pro40Arg)" "" "" "0000348678" "00000191" "90" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Ser121Gly)" "" "" "0000348904" "00000191" "50" "838" "0" "838" "0" "c.838A>C" "r.(?)" "p.(Ser280Arg)" "" "" "0000349540" "00000191" "90" "146" "0" "146" "0" "c.146C>T" "r.(?)" "p.(Thr49Met)" "" "" "0000350943" "00000191" "30" "-142" "0" "-142" "0" "c.-142C>G" "r.(?)" "p.(=)" "" "" "0000574980" "00000191" "50" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Lys43Arg)" "" "" "0000574981" "00000191" "30" "264" "-9" "264" "-9" "c.264-9C>T" "r.(=)" "p.(=)" "" "" "0000574982" "00000191" "30" "264" "-8" "264" "-8" "c.264-8C>T" "r.(=)" "p.(=)" "" "" "0000574983" "00000191" "30" "264" "-7" "264" "-7" "c.264-7A>T" "r.(=)" "p.(=)" "" "" "0000574984" "00000191" "30" "497" "0" "497" "0" "c.497G>T" "r.(?)" "p.(Gly166Val)" "" "" "0000574985" "00000191" "10" "776" "0" "776" "0" "c.776A>C" "r.(?)" "p.(His259Pro)" "" "" "0000574986" "00000191" "30" "888" "0" "888" "0" "c.888T>C" "r.(?)" "p.(His296=)" "" "" "0000574988" "00000191" "30" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Gly486Arg)" "" "" "0000574990" "00000191" "50" "1509" "0" "1514" "0" "c.1509_1514dup" "r.(?)" "p.(Lys504_Lys505dup)" "" "" "0000574991" "00000191" "10" "1512" "0" "1514" "0" "c.1512_1514del" "r.(?)" "p.(Lys505del)" "" "" "0000574993" "00000191" "50" "1512" "0" "1514" "0" "c.1512_1514dup" "r.(?)" "p.(Lys505dup)" "" "" "0000574994" "00000191" "30" "1512" "0" "1514" "0" "c.1512_1514dup" "r.(?)" "p.(Lys505dup)" "" "" "0000574995" "00000191" "30" "1512" "0" "1514" "0" "c.1512_1514dup" "r.(?)" "p.(Lys505dup)" "" "" "0000574996" "00000191" "10" "1512" "0" "1514" "0" "c.1512_1514dup" "r.(?)" "p.(Lys505dup)" "" "" "0000574997" "00000191" "50" "1528" "0" "1528" "0" "c.1528G>A" "r.(?)" "p.(Glu510Lys)" "" "" "0000574998" "00000191" "50" "5937" "0" "5937" "0" "c.*4392G>A" "r.(=)" "p.(=)" "" "" "0000619348" "00000191" "50" "491" "0" "491" "0" "c.491A>T" "r.(?)" "p.(Glu164Val)" "" "" "0000619349" "00000191" "50" "1312" "0" "1312" "0" "c.1312G>T" "r.(?)" "p.(Val438Phe)" "" "" "0000652852" "00000191" "10" "1461" "0" "1461" "0" "c.1461C>T" "r.(=)" "p.(=)" "" "" "0000670100" "00000191" "10" "1461" "0" "1461" "0" "c.1461C>T" "r.(=)" "p.(=)" "" "" "0000682290" "00000191" "30" "1512" "0" "1514" "0" "c.1512_1514dup" "r.(?)" "p.(Lys505dup)" "" "" "0000728692" "00000191" "30" "1338" "3" "1338" "3" "c.1338+3G>A" "r.spl?" "p.?" "" "" "0000728693" "00000191" "10" "1512" "0" "1514" "0" "c.1512_1514del" "r.(?)" "p.(Lys505del)" "" "" "0000735484" "00000191" "50" "1512" "0" "1512" "0" "c.1512G>T" "r.(?)" "p.(Lys504Asn)" "" "" "0000764708" "00000191" "70" "112" "0" "116" "0" "c.112_116delinsTCAAC" "r.(?)" "p.(Ile38_Lys39delinsSerThr)" "" "" "0000764709" "00000191" "70" "1259" "1" "1259" "1" "c.1259+1G>A" "r.spl" "p.?" "" "" "0000896037" "00000191" "30" "-142" "0" "-142" "0" "c.-142C>G" "r.(?)" "p.(=)" "" "" "0000896038" "00000191" "30" "171" "16" "171" "16" "c.171+16C>T" "r.(=)" "p.(=)" "" "" "0000902114" "00000191" "50" "1036" "4" "1036" "4" "c.1036+4A>G" "r.(?)" "p.(?)" "" "" "0000915658" "00000191" "30" "771" "13" "771" "13" "c.771+13G>A" "r.(=)" "p.(=)" "" "" "0000920296" "00000191" "70" "17" "-824" "2877" "0" "c.17-824_*1332dup" "r.?" "p.?" "1i_15_" "" "0001006601" "00000191" "50" "-142" "0" "-142" "0" "c.-142C>G" "r.(?)" "p.(=)" "" "" "0001006602" "00000191" "30" "264" "-10" "264" "-10" "c.264-10dup" "r.(=)" "p.(=)" "" "" "0001006603" "00000191" "50" "607" "0" "607" "0" "c.607A>G" "r.(?)" "p.(Lys203Glu)" "" "" "0001006604" "00000191" "50" "1442" "0" "1442" "0" "c.1442C>G" "r.(?)" "p.(Ala481Gly)" "" "" "0001044227" "00000191" "30" "264" "-10" "264" "-10" "c.264-10del" "r.(=)" "p.(=)" "" "" "0001044228" "00000191" "30" "448" "4" "448" "4" "c.448+4T>C" "r.spl?" "p.?" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 101 "{{screeningid}}" "{{variantid}}" "0000000021" "0000001303" "0000000209" "0000003349" "0000000209" "0000003350" "0000000209" "0000003351" "0000000209" "0000008088" "0000000209" "0000008089" "0000000209" "0000008090" "0000000209" "0000008091" "0000000210" "0000010266" "0000000210" "0000010267" "0000000210" "0000010268" "0000000210" "0000011335" "0000000210" "0000011336" "0000000210" "0000016056" "0000050638" "0000079618" "0000106299" "0000171897" "0000106300" "0000171898" "0000106301" "0000171899" "0000106302" "0000171900" "0000106302" "0000242633" "0000106303" "0000171901" "0000106304" "0000171902" "0000106304" "0000242634" "0000106305" "0000171903" "0000106306" "0000171904" "0000106307" "0000171905" "0000106308" "0000171906" "0000106309" "0000171907" "0000106310" "0000171908" "0000106311" "0000171909" "0000106312" "0000171910" "0000106313" "0000171911" "0000106314" "0000171912" "0000106315" "0000171913" "0000106316" "0000171914" "0000106317" "0000171915" "0000106318" "0000171916" "0000106319" "0000171917" "0000106320" "0000171918" "0000106321" "0000171919" "0000106322" "0000171920" "0000106323" "0000171921" "0000106324" "0000171922" "0000106326" "0000171924" "0000106327" "0000171925" "0000106328" "0000171926" "0000106329" "0000171927" "0000106330" "0000171928" "0000106331" "0000171929" "0000106332" "0000171930" "0000106333" "0000171931" "0000106334" "0000171932" "0000106335" "0000171933" "0000106336" "0000171934" "0000106337" "0000171935" "0000106338" "0000171936" "0000106339" "0000171937" "0000106340" "0000171938" "0000106341" "0000171939" "0000106342" "0000171940" "0000106343" "0000171941" "0000106344" "0000171942" "0000106345" "0000171943" "0000106346" "0000171944" "0000106347" "0000171945" "0000106348" "0000171946" "0000106349" "0000171947" "0000106350" "0000171948" "0000106351" "0000171949" "0000106352" "0000171950" "0000106353" "0000171951" "0000106354" "0000171952" "0000106355" "0000171953" "0000106356" "0000171954" "0000106357" "0000171955" "0000106358" "0000171956" "0000106359" "0000171957" "0000106360" "0000171958" "0000106361" "0000171959" "0000106362" "0000171960" "0000106363" "0000171961" "0000106364" "0000171962" "0000106365" "0000171963" "0000106366" "0000171964" "0000106367" "0000171965" "0000149312" "0000242635" "0000149313" "0000242636" "0000149314" "0000242637" "0000149315" "0000242638" "0000149316" "0000242639" "0000149317" "0000242640" "0000149318" "0000242641" "0000149319" "0000242642" "0000149320" "0000242643" "0000149321" "0000242644" "0000296163" "0000652852" "0000306412" "0000670100" "0000336258" "0000735484" "0000363998" "0000764708" "0000363999" "0000764709" "0000434543" "0000920296"