### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TEK) # 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}}" "TEK" "TEK tyrosine kinase, endothelial" "9" "p21" "unknown" "NG_011828.1" "UD_132085431766" "" "https://www.LOVD.nl/TEK" "" "1" "11724" "7010" "600221" "1" "1" "1" "1" " This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TEK_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00000" "2009-12-23 00:00:00" "00006" "2018-05-11 18:04:17" "00006" "2025-11-13 13:04:16" ## 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}}" "00000981" "TEK" "TEK tyrosine kinase, endothelial" "001" "NM_000459.3" "" "NP_000450.2" "" "" "" "-442" "4317" "3375" "27109147" "27230172" "00000" "2012-09-13 13:04:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02294" "VMCM" "venous malformations, multiple cutaneous and mucosal (VMCM)" "AD" "600195" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03246" "GLC3D" "glaucoma, congenital, primary, type 3D (GLC-3D)" "" "613086" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04268" "GLC3" "glaucoma, congenital, primary, type 3 (GLC-3)" "" "" "" "" "" "00006" "2015-05-14 15:52:47" "00006" "2021-12-11 13:56:28" "05204" "-" "malformation, venous, unifocal, sporadic" "" "" "" "" "" "00006" "2016-12-02 15:27:22" "" "" "05205" "BRBN" "nevus, blue rubber bleb (BRBN)" "" "" "" "" "" "00006" "2016-12-02 15:29:30" "" "" "05206" "MSVM" "malformation, venous, multifocal sporadic (MSVM)" "" "" "" "" "" "00006" "2016-12-02 15:30:29" "" "" "06812" "GLC3E" "Glaucoma 3, primary congenital, E" "AD" "617272" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TEK" "02294" "TEK" "06812" ## Individuals ## Do not remove or alter this header ## ## Count = 146 "{{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}}" "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" "" "" "" "" "00089431" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089432" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089435" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089436" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089437" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089438" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089439" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089440" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089441" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089442" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" 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"01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089501" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089502" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089503" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089505" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089507" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089508" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089509" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089510" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089511" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089512" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089514" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089515" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089516" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089517" "" "" "" "1" "" "01764" "{PMID:Wouters 2010:19888299}" "" "" "" "" "" "0" "" "" "" "" "00089519" "" "" "" "1" "" "01764" "{PMID:Wouters 2010:19888299}" "" "" "" "" "" "0" "" "" "" "" "00089520" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089521" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089522" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089523" "" "" "" "1" "" "01764" "{PMID:Wouters 2010:19888299}" "" "" "" "" "" "0" "" "" "" "" "00089527" "" "" "" "1" "" "01764" "{PMID:Wouters 2010:19888299}" "" "" "" "" "" "0" "" "" "" "" "00089529" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089530" "" "" "" "1" "" "01764" "{PMID:Wouters 2010:19888299}" "" "" "" "" "" "0" "" "" "" "" "00089531" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089532" "" "" "" "1" "" "01764" "{PMID:Wouters 2010:19888299}" "" "" "" "" "" "0" "" "" "" "" "00089533" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089534" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089535" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089537" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089538" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089540" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089541" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089542" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089544" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089545" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089547" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089550" "" "" "" "1" "" "01764" "{PMID:Vikkula 1996:8980225}" "" "" "" "" "" "0" "" "" "" "" "00089551" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089554" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089555" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089556" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089557" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" 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"" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089570" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089571" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089572" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089573" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089574" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089575" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089576" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089577" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089578" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089579" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089580" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089581" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089582" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089583" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089584" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089585" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089586" "" "" "" "1" "" "01764" "{PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089587" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089589" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089590" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}, {PMID:Soblet 2016:27519652}" "" "" "" "" "" "0" "" "" "" "" "00089591" "" "" "" "1" "" "01764" "{PMID:Limaye 2009:19297403}" "" "" "" "" "" "0" "" "" "" "" "00089592" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089593" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089594" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089595" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089596" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089597" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089598" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00089599" "" "" "" "1" "" "01764" "{PMID:Soblet 2013:23801934}" "" "" "" "" "" "0" "" "" "" "" "00089601" "" "" "" "1" "" "01764" "{PMID:Limaye 2015:26637981}" "" "" "" "" "" "0" "" "" "" "" "00435380" "" "" "" "1" "" "04534" "" "" "" "" "Mexico" "" "0" "" "" "" "GPC-5237" "00435381" "" "" "" "1" "" "04534" "" "" "" "" "Mexico" "" "" "" "" "" "GPC-5140" "00435382" "" "" "" "1" "" "04534" "" "" "" "" "(Mexico)" "" "" "" "" "" "GPC-5137" "00435383" "" "" "" "1" "" "04534" "" "" "" "" "(Mexico)" "" "" "" "" "" "GPC-5071" "00435384" "" "" "" "1" "" "04534" "" "" "" "" "Mexico" "" "" "" "" "" "GPC-5424" "00435385" "" "" "" "1" "" "04534" "" "" "" "" "(Mexico)" "" "" "" "" "" "GPC-5446" "00435387" "" "" "" "1" "" "04534" "" "" "" "" "(Mexico)" "" "" "" "" "" "GPC-5199" "00435388" "" "" "" "1" "" "04534" "" "" "" "" "(Mexico)" "" "" "" "" "" "GPC-5128" "00435389" "" "" "" "1" "" "04534" "" "" "" "" "(Mexico)" "" "" "" "" "" "GPC-5305" "00469453" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 146 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00089431" "05204" "00089432" "05204" "00089435" "05204" "00089436" "05204" "00089437" "05204" "00089438" "05204" "00089439" "05204" "00089440" "05204" "00089441" "05204" "00089442" "05206" "00089444" "05204" "00089446" "05204" "00089447" "05204" "00089448" "05204" "00089449" "05204" "00089450" "05204" "00089454" "05204" "00089455" "05204" "00089456" "05204" "00089457" "05204" "00089458" "05204" "00089459" "05204" "00089460" "05204" "00089461" "05204" "00089462" "05204" "00089463" "05204" "00089464" "05204" "00089465" "05204" "00089468" "05204" "00089469" "05204" "00089470" "05206" "00089471" "05204" "00089472" "05204" "00089473" "05204" "00089474" "05204" "00089476" "05204" "00089477" "05204" "00089479" "05204" "00089480" "05204" "00089482" "05204" "00089483" "05204" "00089486" "05204" "00089488" "05204" "00089489" "05204" "00089490" "05204" "00089491" "05206" "00089492" "05204" "00089495" "05206" "00089496" "05206" "00089497" "05204" "00089498" "05204" "00089500" "05204" "00089501" "05204" "00089502" "05204" "00089503" "05204" "00089505" "05204" "00089507" "05204" "00089508" "05204" "00089509" "05204" "00089510" "05204" "00089511" "05204" "00089512" "05204" "00089514" "05206" "00089515" "05204" "00089516" "05204" "00089517" "05204" "00089519" "05204" "00089520" "05204" "00089521" "05204" "00089522" "05204" "00089523" "02294" "00089527" "05206" "00089529" "05204" "00089530" "05206" "00089531" "05204" "00089532" "05206" "00089533" "02294" "00089534" "05204" "00089535" "05204" "00089537" "05204" "00089538" "05206" "00089540" "05204" "00089541" "05204" "00089542" "05204" "00089544" "05204" "00089545" "05204" "00089547" "05204" "00089550" "05204" "00089551" "05204" "00089554" "05204" "00089555" "05204" "00089556" "05204" "00089557" "05204" "00089558" "05204" "00089559" "05204" "00089560" "05204" "00089561" "05205" "00089562" "05205" "00089563" "05205" "00089564" "05205" "00089565" "05205" "00089567" "05205" "00089568" "05205" "00089569" "05205" "00089570" "05205" "00089571" "05205" "00089572" "05205" "00089573" "05205" "00089574" "05206" "00089575" "05205" "00089576" "02294" "00089577" "02294" "00089578" "02294" "00089579" "02294" "00089580" "02294" "00089581" "02294" "00089582" "02294" "00089583" "02294" "00089584" "02294" "00089585" "02294" "00089586" "02294" "00089587" "02294" "00089589" "02294" "00089590" "02294" "00089591" "02294" "00089592" "02294" "00089593" "02294" "00089594" "02294" "00089595" "02294" "00089596" "02294" "00089597" "02294" "00089598" "02294" "00089599" "02294" "00089601" "05205" "00435380" "06812" "00435381" "06812" "00435382" "06812" "00435383" "06812" "00435384" "06812" "00435385" "04268" "00435387" "03246" "00435388" "03246" "00435389" "06812" "00469453" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 02294, 03246, 04268, 05204, 05205, 05206, 06812 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "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" "" "" "" "" "" "" "" "" "" "0000354606" "00198" "00469453" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the cardiovascular system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 146 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "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" "" "" "0000089577" "00089431" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089578" "00089432" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089581" "00089435" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089582" "00089436" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089583" "00089437" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089584" "00089438" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089585" "00089439" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089586" "00089440" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089587" "00089441" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089588" "00089442" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089590" "00089444" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089592" "00089446" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089593" "00089447" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089594" "00089448" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089595" "00089449" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089596" "00089450" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089600" "00089454" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089601" "00089455" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089602" "00089456" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089603" "00089457" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089604" "00089458" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089605" "00089459" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089606" "00089460" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089607" "00089461" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089608" "00089462" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089609" "00089463" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089610" "00089464" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089611" "00089465" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089614" "00089468" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089615" "00089469" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089616" "00089470" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089617" "00089471" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089618" "00089472" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089619" "00089473" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089620" "00089474" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089622" "00089476" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089623" "00089477" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089625" "00089479" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089626" "00089480" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089628" "00089482" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089629" "00089483" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089632" "00089486" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089634" "00089488" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089635" "00089489" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089636" "00089490" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089637" "00089491" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089638" "00089492" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089641" "00089495" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089642" "00089496" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089643" "00089497" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089644" "00089498" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089646" "00089500" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089647" "00089501" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089648" "00089502" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089649" "00089503" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089651" "00089505" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089653" "00089507" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089654" "00089508" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089655" "00089509" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089656" "00089510" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089657" "00089511" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089658" "00089512" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089660" "00089514" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089661" "00089515" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089662" "00089516" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089663" "00089517" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089665" "00089519" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089666" "00089520" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089667" "00089521" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089668" "00089522" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089669" "00089523" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089673" "00089527" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089675" "00089529" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089676" "00089530" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089677" "00089531" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089678" "00089532" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089679" "00089533" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089680" "00089534" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089681" "00089535" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089683" "00089537" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089684" "00089538" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089686" "00089540" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089687" "00089541" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089688" "00089542" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089690" "00089544" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089691" "00089545" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "?" "DNA" "" "" "0000089693" "00089547" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089696" "00089550" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089697" "00089551" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089700" "00089554" "1" "01764" "01764" "2016-12-02 16:11:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000089701" "00089555" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089702" "00089556" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089703" "00089557" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089704" "00089558" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089705" "00089559" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089706" "00089560" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "?" "DNA" "" "" "0000089707" "00089561" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089708" "00089562" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089709" "00089563" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089710" "00089564" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089711" "00089565" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089713" "00089567" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089714" "00089568" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089715" "00089569" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089716" "00089570" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089717" "00089571" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089718" "00089572" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089719" "00089573" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089720" "00089574" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089721" "00089575" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089722" "00089576" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089723" "00089577" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089724" "00089578" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089725" "00089579" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089726" "00089580" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089727" "00089581" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089728" "00089582" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089729" "00089583" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089730" "00089584" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089731" "00089585" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089732" "00089586" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089733" "00089587" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089735" "00089589" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089736" "00089590" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089737" "00089591" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ-NG" "DNA" "" "" "0000089738" "00089592" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089739" "00089593" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089740" "00089594" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089741" "00089595" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089742" "00089596" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089743" "00089597" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089744" "00089598" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000089745" "00089599" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "DNA" "" "" "0000089746" "00089601" "1" "01764" "01764" "2016-12-02 16:11:47" "" "" "SEQ" "RNA" "" "" "0000436860" "00435380" "1" "04534" "04534" "2023-07-21 18:58:09" "" "" "SEQ-NG-I" "RNA" "blood" "" "0000436861" "00435381" "1" "04534" "04534" "2023-07-21 19:13:07" "" "" "SEQ-NG-I" "RNA" "blood" "" "0000436862" "00435382" "1" "04534" "04534" "2023-07-21 19:20:23" "" "" "SEQ-NG-I" "RNA" "" "" "0000436863" "00435383" "1" "04534" "04534" "2023-07-21 19:29:25" "" "" "SEQ-NG-I" "RNA" "" "" "0000436864" "00435384" "1" "04534" "04534" "2023-07-21 19:34:52" "" "" "SEQ-NG-I" "RNA" "" "" "0000436865" "00435385" "1" "04534" "04534" "2023-07-21 19:42:08" "" "" "SEQ-NG-I" "RNA" "" "" "0000436867" "00435387" "1" "04534" "04534" "2023-07-21 19:46:57" "" "" "SEQ-NG-I" "RNA" "" "" "0000436868" "00435388" "1" "04534" "04534" "2023-07-21 19:51:09" "" "" "SEQ-NG-I" "RNA" "" "" "0000436869" "00435389" "1" "04534" "04534" "2023-07-21 19:55:50" "" "" "SEQ-NG-I" "RNA" "" "" "0000471121" "00469453" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 143 "{{screeningid}}" "{{geneid}}" "0000089577" "TEK" "0000089578" "TEK" "0000089581" "TEK" "0000089582" "TEK" "0000089583" "TEK" "0000089584" "TEK" "0000089585" "TEK" "0000089586" "TEK" "0000089587" "TEK" "0000089588" "TEK" "0000089590" "TEK" "0000089592" "TEK" "0000089593" "TEK" "0000089594" "TEK" "0000089595" "TEK" "0000089596" "TEK" "0000089600" "TEK" "0000089601" "TEK" "0000089602" "TEK" "0000089603" "TEK" "0000089604" "TEK" "0000089605" "TEK" "0000089606" "TEK" "0000089607" "TEK" "0000089608" "TEK" "0000089609" "TEK" "0000089610" "TEK" "0000089611" "TEK" "0000089614" "TEK" "0000089615" "TEK" "0000089616" "TEK" "0000089617" "TEK" "0000089618" "TEK" "0000089619" "TEK" "0000089620" "TEK" "0000089622" "TEK" "0000089623" "TEK" "0000089625" "TEK" "0000089626" "TEK" "0000089628" "TEK" "0000089629" "TEK" "0000089632" "TEK" "0000089634" "TEK" "0000089635" "TEK" "0000089636" "TEK" "0000089637" "TEK" "0000089638" "TEK" "0000089641" "TEK" "0000089642" "TEK" "0000089643" "TEK" "0000089644" "TEK" "0000089646" "TEK" "0000089647" "TEK" "0000089648" "TEK" "0000089649" "TEK" "0000089651" "TEK" "0000089653" "TEK" "0000089654" "TEK" "0000089655" "TEK" "0000089656" "TEK" "0000089657" "TEK" "0000089658" "TEK" "0000089660" "TEK" "0000089661" "TEK" "0000089662" "TEK" "0000089663" "TEK" "0000089665" "TEK" "0000089666" "TEK" "0000089667" "TEK" "0000089668" "TEK" "0000089669" "TEK" "0000089673" "TEK" "0000089675" "TEK" "0000089676" "TEK" "0000089677" "TEK" "0000089678" "TEK" "0000089679" "TEK" "0000089680" "TEK" "0000089681" "TEK" "0000089683" "TEK" "0000089684" "TEK" "0000089686" "TEK" "0000089687" "TEK" "0000089688" "TEK" "0000089690" "TEK" "0000089691" "TEK" "0000089693" "TEK" "0000089696" "TEK" "0000089697" "TEK" "0000089700" "TEK" "0000089701" "TEK" "0000089702" "TEK" "0000089703" "TEK" "0000089704" "TEK" "0000089705" "TEK" "0000089706" "TEK" "0000089707" "TEK" "0000089708" "TEK" "0000089709" "TEK" "0000089710" "TEK" "0000089711" "TEK" "0000089713" "TEK" "0000089714" "TEK" "0000089715" "TEK" "0000089716" "TEK" "0000089717" "TEK" "0000089718" "TEK" "0000089719" "TEK" "0000089720" "TEK" "0000089721" "TEK" "0000089722" "TEK" "0000089723" "TEK" "0000089724" "TEK" "0000089725" "TEK" "0000089726" "TEK" "0000089727" "TEK" "0000089728" "TEK" "0000089729" "TEK" "0000089730" "TEK" "0000089731" "TEK" "0000089732" "TEK" "0000089733" "TEK" "0000089735" "TEK" "0000089736" "TEK" "0000089737" "TEK" "0000089738" "TEK" "0000089739" "TEK" "0000089740" "TEK" "0000089741" "TEK" "0000089742" "TEK" "0000089743" "TEK" "0000089744" "TEK" "0000089745" "TEK" "0000089746" "TEK" "0000436860" "TEK" "0000436861" "TEK" "0000436862" "TEK" "0000436863" "TEK" "0000436864" "TEK" "0000436865" "TEK" "0000436867" "TEK" "0000436868" "TEK" "0000436869" "TEK" ## 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 = 254 "{{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}}" "0000002472" "0" "30" "9" "27210274" "27210275" "del" "0" "00037" "TEK_000002" "g.27210274_27210275del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27210276_27210277del" "" "likely benign" "" "0000004707" "0" "30" "9" "27210225" "27210225" "subst" "0" "00037" "TEK_000001" "g.27210225A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27210227A>G" "" "likely benign" "" "0000004708" "0" "30" "9" "27210756" "27210756" "subst" "0" "00037" "TEK_000003" "g.27210756A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27210758A>G" "" "likely benign" "" "0000010489" "0" "30" "9" "27210274" "27210275" "del" "0" "00037" "TEK_000002" "g.27210274_27210275del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27210276_27210277del" "" "likely benign" "" "0000012686" "0" "30" "9" "27210756" "27210756" "subst" "0" "00037" "TEK_000003" "g.27210756A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27210758A>G" "" "likely benign" "" "0000147564" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147565" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147566" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000004" "g.27212708A>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108562A>T" "" "Somatic" "" "" "0" "" "" "g.27212710A>T" "" "pathogenic" "" "0000147567" "0" "99" "9" "27212770" "27212770" "subst" "0" "01764" "TEK_000016" "g.27212770C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108624C>T" "" "Somatic" "" "" "0" "" "" "g.27212772C>T" "" "pathogenic" "" "0000147568" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147569" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147570" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147571" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147572" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147573" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147574" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Soblet 2016:27519652}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147575" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Soblet 2016:27519652}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147576" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147577" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147578" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Boscolo 2015:26258417}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147579" "0" "99" "9" "27229194" "27229194" "subst" "0" "01764" "TEK_000037" "g.27229194T>A" "" "{PMID:Limaye 2015:26637981}" "" "g.125048T>A" "" "Somatic" "" "" "0" "" "" "g.27229196T>A" "" "pathogenic" "" "0000147580" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147581" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147582" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147583" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147584" "0" "99" "9" "27229179" "27229179" "subst" "0" "01764" "TEK_000036" "g.27229179T>G" "" "{PMID:Limaye 2015:26637981}" "" "g.125033T>G" "" "Somatic" "" "" "0" "" "" "g.27229181T>G" "" "pathogenic" "" "0000147585" "0" "99" "9" "27229176" "27229177" "del" "0" "01764" "TEK_000034" "g.27229176_27229177del" "" "{PMID:Limaye 2015:26637981}" "" "g.125030_125031del" "" "Somatic" "" "" "0" "" "" "g.27229178_27229179del" "" "pathogenic" "" "0000147586" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147587" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>C" "" "{PMID:Soblet 2016:27519652}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>C" "" "pathogenic" "" "0000147588" "0" "99" "9" "27212771" "27212771" "subst" "0" "01764" "TEK_000026" "g.27212771G>T" "" "{PMID:Soblet 2016:27519652}" "" "g.108625G>T" "" "Somatic" "" "" "0" "" "" "g.27212773G>T" "" "pathogenic" "" "0000147589" "0" "99" "9" "27228298" "27228298" "subst" "0" "01764" "TEK_000029" "g.27228298C>T" "" "{PMID:Boscolo 2015:26258417}, {PMID:Soblet 2016:27519652}" "" "g.124152C>T" "" "Somatic" "" "" "0" "" "" "g.27228300C>T" "" "pathogenic" "" "0000147590" "0" "99" "9" "27212771" "27212771" "subst" "0" "01764" "TEK_000025" "g.27212771G>A" "" "{PMID:Limaye 2015:26637981}" "" "g.108625G>A" "" "Somatic" "" "" "0" "" "" "g.27212773G>A" "" "pathogenic" "" "0000147591" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>A" "" "{PMID:Soblet 2016:27519652}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>A" "" "pathogenic" "" "0000147592" "0" "99" "9" "27212770" "27212770" "subst" "0" "01764" "TEK_000024" "g.27212770C>G" "" "{PMID:Soblet 2016:27519652}" "" "g.108624C>G" "" "Somatic" "" "" "0" "" "" "g.27212772C>G" "" "pathogenic" "" "0000147593" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147594" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Limaye 2015:26637981}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147595" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147596" "0" "77" "9" "27212883" "27212883" "subst" "0" "01764" "TEK_000027" "g.27212883G>C" "" "{PMID:Limaye 2015:26637981}" "" "g.108737G>C" "" "Germline" "" "" "0" "" "" "g.27212885G>C" "" "likely pathogenic" "" "0000147597" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147598" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147599" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147600" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147601" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147602" "0" "99" "9" "27229179" "27229179" "subst" "0" "01764" "TEK_000035" "g.27229179T>A" "" "{PMID:Limaye 2015:26637981}" "" "g.125033T>A" "" "Somatic" "" "" "0" "" "" "g.27229181T>A" "" "pathogenic" "" "0000147603" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147604" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147605" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147606" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147607" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147608" "0" "99" "9" "27212711" "27212711" "subst" "0" "01764" "TEK_000011" "g.27212711A>G" "" "{PMID:Limaye 2015:26637981}" "" "g.108562A>G" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Somatic" "" "" "0" "" "" "g.27212713A>G" "" "pathogenic" "" "0000147609" "0" "99" "9" "27228298" "27228298" "subst" "0" "01764" "TEK_000029" "g.27228298C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.124152C>T" "" "Somatic" "" "" "0" "" "" "g.27228300C>T" "" "pathogenic" "" "0000147610" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>A" "" "{PMID:Limaye 2015:26637981}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>A" "" "pathogenic" "" "0000147611" "0" "99" "9" "27212770" "27212770" "subst" "0" "01764" "TEK_000016" "g.27212770C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108624C>T" "" "Somatic" "" "" "0" "" "" "g.27212772C>T" "" "pathogenic" "" "0000147612" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147613" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147614" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147615" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147616" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147617" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Limaye 2015:26637981}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147618" "0" "99" "9" "27212770" "27212770" "subst" "0" "01764" "TEK_000016" "g.27212770C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108624C>T" "" "Somatic" "" "" "0" "" "" "g.27212772C>T" "" "pathogenic" "" "0000147619" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147620" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147621" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>A" "" "{PMID:Soblet 2016:27519652}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>A" "" "pathogenic" "" "0000147622" "0" "99" "9" "27229178" "27229179" "del" "0" "01764" "TEK_000034" "g.27229178_27229179del" "" "{PMID:Soblet 2016:27519652}" "" "g.125032_125033del" "" "Somatic" "" "" "0" "" "" "g.27229180_27229181del" "" "pathogenic" "" "0000147623" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000004" "g.27212708A>T" "" "{PMID:Limaye 2009:19297403}, {PMID:Soblet 2016:27519652}" "" "g.108562A>T" "" "Somatic" "" "" "0" "" "" "g.27212710A>T" "" "pathogenic" "" "0000147624" "0" "99" "9" "27212762" "27212762" "subst" "0" "01764" "TEK_000010" "g.27212762G>T" "" "{PMID:Soblet 2016:27519652}" "" "g.108616G>T" "" "Somatic" "" "" "0" "" "" "g.27212764G>T" "" "pathogenic" "" "0000147625" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2016:27519652}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147626" "0" "99" "9" "27229171" "27229171" "subst" "0" "01764" "TEK_000033" "g.27229171A>C" "" "{PMID:Soblet 2016:27519652}" "" "g.125025A>C" "" "Somatic" "" "" "0" "" "" "g.27229173A>C" "" "pathogenic" "" "0000147627" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2016:27519652}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147628" "0" "99" "9" "27229171" "27229171" "subst" "0" "01764" "TEK_000033" "g.27229171A>C" "" "{PMID:Soblet 2016:27519652}" "" "g.125025A>C" "" "Somatic" "" "" "0" "" "" "g.27229173A>C" "" "pathogenic" "" "0000147629" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Soblet 2016:27519652}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147630" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147631" "0" "99" "9" "27212762" "27212762" "subst" "0" "01764" "TEK_000010" "g.27212762G>T" "" "{PMID:Soblet 2016:27519652}" "" "g.108616G>T" "" "Somatic" "" "" "0" "" "" "g.27212764G>T" "" "pathogenic" "" "0000147632" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>A" "" "{PMID:Soblet 2016:27519652}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>A" "" "pathogenic" "" "0000147633" "0" "99" "9" "27212770" "27212770" "subst" "0" "01764" "TEK_000016" "g.27212770C>T" "" "{PMID:Soblet 2016:27519652}" "" "g.108624C>T" "" "Somatic" "" "" "0" "" "" "g.27212772C>T" "" "pathogenic" "" "0000147634" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2016:27519652}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147635" "0" "99" "9" "27229171" "27229171" "subst" "0" "01764" "TEK_000033" "g.27229171A>C" "" "{PMID:Soblet 2016:27519652}" "" "g.125025A>C" "" "Somatic" "" "" "0" "" "" "g.27229173A>C" "" "pathogenic" "" "0000147636" "0" "99" "9" "27212771" "27212771" "subst" "0" "01764" "TEK_000025" "g.27212771G>A" "" "{PMID:Soblet 2016:27519652}" "" "g.108625G>A" "" "Somatic" "" "" "0" "" "" "g.27212773G>A" "" "pathogenic" "" "0000147637" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>A" "" "{PMID:Limaye 2015:26637981}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>A" "" "pathogenic" "" "0000147638" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2016:27519652}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147639" "0" "99" "9" "27229171" "27229171" "subst" "0" "01764" "TEK_000033" "g.27229171A>C" "" "{PMID:Soblet 2016:27519652}" "" "g.125025A>C" "" "Somatic" "" "" "0" "" "" "g.27229173A>C" "" "pathogenic" "" "0000147640" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147641" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000006" "g.27212707T>C" "" "{PMID:Soblet 2016:27519652}" "" "g.108561T>C" "" "Somatic" "" "" "0" "" "" "g.27212709T>C" "" "pathogenic" "" "0000147642" "0" "99" "9" "27212768" "27212768" "subst" "0" "01764" "TEK_000009" "g.27212768G>T" "" "{PMID:Soblet 2016:27519652}" "" "g.108622G>T" "" "Somatic" "" "" "0" "" "" "g.27212770G>T" "" "pathogenic" "" "0000147643" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2016:27519652}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147644" "0" "99" "9" "27229171" "27229171" "subst" "0" "01764" "TEK_000033" "g.27229171A>C" "" "{PMID:Soblet 2016:27519652}" "" "g.125025A>C" "" "Somatic" "" "" "0" "" "" "g.27229173A>C" "" "pathogenic" "" "0000147645" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000022" "g.27212761C>A" "" "{PMID:Limaye 2015:26637981}" "" "g.108615C>A" "" "Somatic" "" "" "0" "" "" "g.27212763C>A" "" "pathogenic" "" "0000147646" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Wouters 2010:19888299}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147647" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Wouters 2010:19888299}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147648" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147649" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000005" "g.27212708A>G" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147650" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147651" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Wouters 2010:19888299}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147652" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Wouters 2010:19888299}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147653" "0" "99" "9" "27228303" "27228303" "subst" "0" "01764" "TEK_000020" "g.27228303G>C" "" "{PMID:Wouters 2010:19888299}" "" "g.124157G>C" "" "Germline" "" "" "0" "" "" "g.27228305G>C" "" "pathogenic" "" "0000147654" "0" "99" "9" "27212772" "27212772" "subst" "0" "01764" "TEK_000016" "g.27212772G>T" "" "{PMID:Wouters 2010:19888299}" "" "g.108624C>T" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.27212774G>T" "" "pathogenic" "" "0000147655" "0" "99" "9" "27212773" "27212773" "subst" "0" "01764" "TEK_000018" "g.27212773G>T" "" "{PMID:Wouters 2010:19888299}" "" "g.108627G>T" "" "Germline" "" "" "0" "" "" "g.27212775G>T" "" "pathogenic" "" "0000147656" "0" "99" "9" "27229154" "27229154" "subst" "0" "01764" "TEK_000030" "g.27229154A>C" "" "{PMID:Limaye 2015:26637981}" "" "g.125008A>C" "" "Germline" "" "" "0" "" "" "g.27229156A>C" "" "pathogenic" "" "0000147657" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Wouters 2010:19888299}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147658" "0" "99" "9" "27212762" "27212762" "subst" "0" "01764" "TEK_000017" "g.27212762G>A" "" "{PMID:Wouters 2010:19888299}" "" "g.108616G>A" "" "Germline" "" "" "0" "" "" "g.27212764G>A" "" "pathogenic" "" "0000147659" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000006" "g.27212707T>C" "" "{PMID:Limaye 2009:19297403}" "" "g.108561T>C" "" "Somatic" "" "" "0" "" "" "g.27212709T>C" "" "pathogenic" "" "0000147660" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Wouters 2010:19888299}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147661" "0" "99" "9" "27212791" "27212791" "subst" "0" "01764" "TEK_000019" "g.27212791G>T" "" "{PMID:Wouters 2010:19888299}" "" "g.108645G>T" "" "Germline" "" "" "0" "" "" "g.27212793G>T" "" "pathogenic" "" "0000147662" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147663" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147664" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147665" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147666" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147667" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147668" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147669" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147670" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147671" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147672" "0" "99" "9" "27228298" "27228298" "subst" "0" "01764" "TEK_000029" "g.27228298C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.124152C>T" "" "Germline" "" "" "0" "" "" "g.27228300C>T" "" "pathogenic" "" "0000147673" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Vikkula 1996:8980225}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147674" "0" "99" "9" "27168493" "27169488" "del" "0" "01764" "TEK_000039" "g.27168493_27169488del" "" "{PMID:Limaye 2009:19297403}" "" "g.64347_65342del" "" "Somatic" "" "" "0" "" "" "g.27168495_27169490del" "" "pathogenic" "" "0000147675" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>A" "" "{PMID:Soblet 2016:27519652}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>A" "" "pathogenic" "" "0000147676" "0" "99" "9" "27212769" "27212769" "subst" "0" "01764" "TEK_000023" "g.27212769C>A" "" "{PMID:Soblet 2016:27519652}" "" "g.108623C>A" "" "Somatic" "" "" "0" "" "" "g.27212771C>A" "" "pathogenic" "" "0000147677" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000008" "g.27212708A>C" "" "{PMID:Limaye 2009:19297403}" "" "g.108562A>C" "" "Somatic" "" "" "0" "" "" "g.27212710A>C" "" "pathogenic" "" "0000147678" "0" "99" "9" "27212768" "27212768" "subst" "0" "01764" "TEK_000009" "g.27212768G>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108622G>T" "" "Somatic" "" "" "0" "" "" "g.27212770G>T" "" "pathogenic" "" "0000147679" "0" "99" "9" "27229179" "27229189" "del" "0" "01764" "TEK_000034" "g.27229179_27229189del" "" "{PMID:Soblet 2013:23801934}" "" "g.125033_125043del" "" "Somatic" "" "" "0" "" "" "g.27229181_27229191del" "" "pathogenic" "" "0000147680" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Limaye 2009:19297403}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147681" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147682" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147683" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147684" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2013:23801934}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147685" "0" "99" "9" "27229171" "27229171" "subst" "0" "01764" "TEK_000033" "g.27229171A>C" "" "{PMID:Soblet 2013:23801934}" "" "g.125025A>C" "" "Somatic" "" "" "0" "" "" "g.27229173A>C" "" "pathogenic" "" "0000147686" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147687" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2013:23801934}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147688" "0" "99" "9" "27229171" "27229171" "subst" "0" "01764" "TEK_000033" "g.27229171A>C" "" "{PMID:Soblet 2013:23801934}" "" "g.125025A>C" "" "Somatic" "" "" "0" "" "" "g.27229173A>C" "" "pathogenic" "" "0000147689" "0" "99" "9" "27213482" "27213482" "subst" "0" "01764" "TEK_000028" "g.27213482T>A" "" "{PMID:Limaye 2015:26637981}" "" "g.109336T>A" "" "Somatic" "" "" "0" "" "" "g.27213484T>A" "" "pathogenic" "" "0000147690" "0" "99" "9" "27229198" "27229198" "subst" "0" "01764" "TEK_000038" "g.27229198G>T" "" "{PMID:Limaye 2015:26637981}" "" "g.125052G>T" "" "Somatic" "" "" "0" "" "" "g.27229200G>T" "" "pathogenic" "" "0000147691" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147692" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147693" "0" "99" "9" "27229168" "27229175" "del" "0" "01764" "TEK_000031" "g.27229168_27229175del" "" "{PMID:Limaye 2015:26637981}" "" "g.125022_125029del" "" "Somatic" "" "" "0" "" "" "g.27229170_27229177del" "" "pathogenic" "" "0000147694" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147695" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147696" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147697" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000006" "g.27212707T>C" "" "{PMID:Limaye 2015:26637981}" "" "g.108561T>C" "" "Somatic" "" "" "0" "" "" "g.27212709T>C" "" "pathogenic" "" "0000147698" "0" "99" "9" "27212771" "27212771" "subst" "0" "01764" "TEK_000025" "g.27212771G>A" "" "{PMID:Limaye 2015:26637981}" "" "g.108625G>A" "" "Somatic" "" "" "0" "" "" "g.27212773G>A" "" "pathogenic" "" "0000147699" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Limaye 2015:26637981}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147700" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147701" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147702" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147703" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147704" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147705" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147706" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147707" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147708" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147709" "0" "99" "9" "27229169" "27229169" "subst" "0" "01764" "TEK_000032" "g.27229169C>A" "" "{PMID:Soblet 2013:23801934}" "" "g.125023C>A" "" "Somatic" "" "" "0" "" "" "g.27229171C>A" "" "pathogenic" "" "0000147710" "0" "99" "9" "27229198" "27229198" "subst" "0" "01764" "TEK_000038" "g.27229198G>T" "" "{PMID:Soblet 2013:23801934}" "" "g.125052G>T" "" "Somatic" "" "" "0" "" "" "g.27229200G>T" "" "pathogenic" "" "0000147711" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147712" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147713" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Soblet 2013:23801934}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147714" "0" "99" "9" "27212770" "27212770" "subst" "0" "01764" "TEK_000016" "g.27212770C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108624C>T" "" "Somatic" "" "" "0" "" "" "g.27212772C>T" "" "pathogenic" "" "0000147715" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147716" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147717" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147718" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147719" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Soblet 2016:27519652}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147720" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Soblet 2016:27519652}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147721" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147722" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147723" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000011" "g.27212708A>G" "" "{PMID:Limaye 2009:19297403}, {PMID:Soblet 2016:27519652}" "" "g.108562A>G" "" "Somatic" "" "" "0" "" "" "g.27212710A>G" "" "pathogenic" "" "0000147724" "0" "99" "9" "27212761" "27212761" "subst" "0" "01764" "TEK_000007" "g.27212761C>T" "" "{PMID:Limaye 2009:19297403}" "" "g.108615C>T" "" "Somatic" "" "" "0" "" "" "g.27212763C>T" "" "pathogenic" "" "0000147725" "0" "99" "9" "27212708" "27212708" "subst" "0" "01764" "TEK_000004" "g.27212708A>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108562A>T" "" "Somatic" "" "" "0" "" "" "g.27212710A>T" "" "pathogenic" "" "0000147726" "0" "99" "9" "27229179" "27229189" "del" "0" "01764" "TEK_000034" "g.27229179_27229189del" "" "{PMID:Soblet 2013:23801934}" "" "g.125033_125043del" "" "Somatic" "" "" "0" "" "" "g.27229181_27229191del" "" "pathogenic" "" "0000147727" "0" "99" "9" "27228298" "27228298" "subst" "0" "01764" "TEK_000029" "g.27228298C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.124152C>T" "" "Somatic" "" "" "0" "" "" "g.27228300C>T" "" "pathogenic" "" "0000147728" "0" "99" "9" "27212707" "27212707" "subst" "0" "01764" "TEK_000021" "g.27212707T>A" "" "{PMID:Limaye 2015:26637981}" "" "g.108561T>A" "" "Somatic" "" "" "0" "" "" "g.27212709T>A" "" "pathogenic" "" "0000147729" "0" "99" "9" "27212770" "27212770" "subst" "0" "01764" "TEK_000016" "g.27212770C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108624C>T" "" "Somatic" "" "" "0" "" "" "g.27212772C>T" "" "pathogenic" "" "0000147730" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147731" "0" "99" "9" "27206760" "27206760" "subst" "0" "01764" "TEK_000014" "g.27206760C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.102614C>T" "" "Germline" "" "" "0" "" "" "g.27206762C>T" "" "pathogenic" "" "0000147732" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Soblet 2013:23801934}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147733" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000147734" "0" "99" "9" "27212758" "27212758" "subst" "0" "01764" "TEK_000005" "g.27212758C>T" "" "{PMID:Limaye 2015:26637981}" "" "g.108612C>T" "" "Somatic" "" "" "0" "" "" "g.27212760C>T" "" "pathogenic" "" "0000246793" "0" "10" "9" "27202870" "27202870" "subst" "0.471181" "02330" "TEK_000045" "g.27202870A>G" "" "" "" "TEK(NM_000459.5):c.1962A>G (p.S654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27202872A>G" "" "benign" "" "0000246796" "0" "10" "9" "27183463" "27183463" "subst" "0.974267" "02330" "TEK_000042" "g.27183463A>C" "" "" "" "TEK(NM_000459.5):c.1037A>C (p.Q346P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27183465A>C" "" "benign" "" "0000246800" "0" "10" "9" "27203134" "27203134" "subst" "0.471147" "02330" "TEK_000049" "g.27203134A>G" "" "" "" "TEK(NM_000459.5):c.2209+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27203136A>G" "" "benign" "" "0000246813" "0" "10" "9" "27203077" "27203077" "subst" "1.62787E-5" "02330" "TEK_000047" "g.27203077A>C" "" "" "" "TEK(NM_000459.5):c.2169A>C (p.P723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27203079A>C" "" "benign" "" "0000248371" "0" "10" "9" "27202870" "27202870" "subst" "0.471181" "02325" "TEK_000045" "g.27202870A>G" "" "" "" "TEK(NM_000459.5):c.1962A>G (p.S654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27202872A>G" "" "benign" "" "0000248413" "0" "10" "9" "27183463" "27183463" "subst" "0.974267" "02325" "TEK_000042" "g.27183463A>C" "" "" "" "TEK(NM_000459.5):c.1037A>C (p.Q346P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27183465A>C" "" "benign" "" "0000248443" "0" "10" "9" "27203134" "27203134" "subst" "0.471147" "02325" "TEK_000049" "g.27203134A>G" "" "" "" "TEK(NM_000459.5):c.2209+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27203136A>G" "" "benign" "" "0000309113" "0" "10" "9" "27190655" "27190655" "subst" "0.0537455" "02330" "TEK_000043" "g.27190655G>A" "" "" "" "TEK(NM_000459.5):c.1456G>A (p.V486I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27190657G>A" "" "benign" "" "0000309114" "0" "10" "9" "27197368" "27197368" "subst" "0.0864945" "02330" "TEK_000044" "g.27197368T>C" "" "" "" "TEK(NM_000459.5):c.1680T>C (p.N560=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27197370T>C" "" "benign" "" "0000309115" "0" "10" "9" "27203002" "27203002" "subst" "0.0460336" "02330" "TEK_000046" "g.27203002G>A" "" "" "" "TEK(NM_000459.5):c.2094G>A (p.Q698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27203004G>A" "" "benign" "" "0000309116" "0" "10" "9" "27203078" "27203078" "subst" "0.00599977" "02330" "TEK_000048" "g.27203078G>A" "" "" "" "TEK(NM_000459.5):c.2170G>A (p.A724T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27203080G>A" "" "benign" "" "0000309117" "0" "10" "9" "27158010" "27158010" "subst" "0.00397728" "02330" "TEK_000040" "g.27158010G>A" "" "" "" "TEK(NM_000459.5):c.234G>A (p.V78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27158012G>A" "" "benign" "" "0000309118" "0" "10" "9" "27206669" "27206669" "subst" "0.0131682" "02330" "TEK_000050" "g.27206669G>C" "" "" "" "TEK(NM_000459.5):c.2454G>C (p.V818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27206671G>C" "" "benign" "" "0000309119" "0" "10" "9" "27213580" "27213580" "subst" "0.193221" "02330" "TEK_000051" "g.27213580T>C" "" "" "" "TEK(NM_000459.5):c.2976T>C (p.Y992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27213582T>C" "" "benign" "" "0000309120" "0" "10" "9" "27213612" "27213612" "subst" "0.0405777" "02330" "TEK_000052" "g.27213612G>C" "" "" "" "TEK(NM_000459.5):c.2991+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27213614G>C" "" "benign" "" "0000309121" "0" "10" "9" "27220066" "27220066" "subst" "0.173648" "02330" "TEK_000053" "g.27220066G>A" "" "" "" "TEK(NM_000459.5):c.3123G>A (p.G1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27220068G>A" "" "benign" "" "0000309122" "0" "30" "9" "27228200" "27228200" "subst" "0.00166568" "02330" "TEK_000054" "g.27228200G>A" "" "" "" "TEK(NM_000459.5):c.3201-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27228202G>A" "" "likely benign" "" "0000309123" "0" "10" "9" "27229141" "27229141" "subst" "0.166507" "02330" "TEK_000055" "g.27229141T>C" "" "" "" "TEK(NM_000459.5):c.3301-15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27229143T>C" "" "benign" "" "0000309124" "0" "10" "9" "27180228" "27180228" "subst" "0.0102673" "02330" "TEK_000041" "g.27180228C>T" "" "" "" "TEK(NM_000459.5):c.902-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27180230C>T" "" "benign" "" "0000311781" "0" "10" "9" "27213580" "27213580" "subst" "0.193221" "02325" "TEK_000051" "g.27213580T>C" "" "" "" "TEK(NM_000459.5):c.2976T>C (p.Y992=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27213582T>C" "" "benign" "" "0000332589" "0" "50" "9" "27197306" "27197306" "subst" "0.000142857" "01804" "TEK_000058" "g.27197306C>T" "" "" "" "TEK(NM_000459.3):c.1625-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27197308C>T" "" "VUS" "" "0000332590" "0" "50" "9" "27202863" "27202863" "subst" "4.06928E-6" "01804" "TEK_000060" "g.27202863A>T" "" "" "" "TEK(NM_000459.3):c.1955A>T (p.(His652Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27202865A>T" "" "VUS" "" "0000537860" "0" "10" "9" "27168571" "27168571" "subst" "0.0184353" "02330" "TEK_000056" "g.27168571T>C" "" "" "" "TEK(NM_000459.5):c.443T>C (p.I148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27168573T>C" "" "benign" "" "0000537861" "0" "50" "9" "27173341" "27173341" "subst" "0.000113897" "01943" "TEK_000057" "g.27173341G>C" "" "" "" "TEK(NM_000459.3):c.882G>C (p.(Lys294Asn)), TEK(NM_000459.4):c.882G>C (p.K294N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27173343G>C" "" "VUS" "" "0000537885" "0" "10" "9" "27197486" "27197486" "subst" "0.0456678" "02330" "TEK_000059" "g.27197486G>T" "" "" "" "TEK(NM_000459.5):c.1798G>T (p.V600L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27197488G>T" "" "benign" "" "0000537886" "0" "10" "9" "27205021" "27205021" "subst" "0.211036" "02330" "TEK_000061" "g.27205021G>A" "" "" "" "TEK(NM_000459.5):c.2322G>A (p.R774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27205023G>A" "" "benign" "" "0000537887" "0" "50" "9" "27205042" "27205042" "subst" "0" "01943" "TEK_000062" "g.27205042G>T" "" "" "" "TEK(NM_000459.4):c.2343G>T (p.M781I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27205044G>T" "" "VUS" "" "0000537888" "0" "50" "9" "27213567" "27213567" "subst" "4.06431E-6" "01804" "TEK_000063" "g.27213567G>A" "" "" "" "TEK(NM_000459.3):c.2963G>A (p.(Gly988Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27213569G>A" "" "VUS" "" "0000612071" "0" "50" "9" "27190533" "27190533" "subst" "0" "02330" "TEK_000064" "g.27190533C>G" "" "" "" "TEK(NM_000459.5):c.1334C>G (p.P445R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27190535C>G" "" "VUS" "" "0000612072" "0" "30" "9" "27212856" "27212856" "subst" "0.00742615" "02330" "TEK_000065" "g.27212856C>T" "" "" "" "TEK(NM_000459.5):c.2838C>T (p.A946=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27212858C>T" "" "likely benign" "" "0000678653" "0" "50" "9" "27172750" "27172750" "subst" "8.13458E-6" "02327" "TEK_000066" "g.27172750G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690514" "0" "30" "9" "27158085" "27158085" "subst" "0.000812236" "01943" "TEK_000067" "g.27158085A>C" "" "" "" "TEK(NM_000459.4):c.309A>C (p.E103D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722475" "0" "50" "9" "27185611" "27185611" "subst" "0" "02330" "TEK_000068" "g.27185611C>A" "" "" "" "TEK(NM_000459.5):c.1311C>A (p.F437L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804073" "0" "50" "9" "27109594" "27109594" "subst" "8.12665E-6" "01943" "TEK_000069" "g.27109594C>A" "" "" "" "TEK(NM_000459.4):c.6C>A (p.D2E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804074" "0" "10" "9" "27157914" "27157914" "subst" "0.001747" "02330" "TEK_000070" "g.27157914C>T" "" "" "" "TEK(NM_000459.5):c.138C>T (p.A46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804075" "0" "50" "9" "27173237" "27173237" "subst" "0" "02330" "TEK_000071" "g.27173237T>C" "" "" "" "TEK(NM_000459.5):c.778T>C (p.F260L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804078" "0" "10" "9" "27183598" "27183598" "subst" "0.00348713" "02330" "TEK_000072" "g.27183598C>T" "" "" "" "TEK(NM_000459.5):c.1172C>T (p.T391I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804080" "0" "30" "9" "27190694" "27190694" "subst" "0" "01943" "TEK_000073" "g.27190694C>T" "" "" "" "TEK(NM_000459.4):c.1489+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804081" "0" "10" "9" "27197303" "27197303" "subst" "0.000363526" "02330" "TEK_000074" "g.27197303A>T" "" "" "" "TEK(NM_000459.5):c.1625-10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804082" "0" "50" "9" "27204927" "27204927" "subst" "0.000280565" "01943" "TEK_000075" "g.27204927G>C" "" "" "" "TEK(NM_000459.4):c.2228G>C (p.G743A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804083" "0" "30" "9" "27218802" "27218802" "subst" "0.00124715" "01943" "TEK_000076" "g.27218802G>A" "" "" "" "TEK(NM_000459.4):c.3090G>A (p.E1030=), TEK(NM_000459.5):c.3090G>A (p.E1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852240" "0" "30" "9" "27180251" "27180251" "subst" "0" "01943" "TEK_000077" "g.27180251T>G" "" "" "" "TEK(NM_000459.4):c.915T>G (p.G305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852246" "0" "50" "9" "27205046" "27205046" "subst" "0" "01943" "TEK_000078" "g.27205046C>G" "" "" "" "TEK(NM_000459.4):c.2347C>G (p.Q783E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852247" "0" "50" "9" "27228274" "27228274" "subst" "0" "02330" "TEK_000079" "g.27228274T>C" "" "" "" "TEK(NM_000459.5):c.3271T>C (p.S1091P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888800" "0" "90" "9" "27206760" "27206760" "subst" "0" "02330" "TEK_000014" "g.27206760C>T" "" "" "" "TEK(NM_000459.5):c.2545C>T (p.R849W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888801" "0" "10" "9" "27218802" "27218802" "subst" "0.00124715" "02330" "TEK_000076" "g.27218802G>A" "" "" "" "TEK(NM_000459.4):c.3090G>A (p.E1030=), TEK(NM_000459.5):c.3090G>A (p.E1030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888802" "0" "30" "9" "27229170" "27229170" "subst" "0.00140239" "02330" "TEK_000080" "g.27229170C>T" "" "" "" "TEK(NM_000459.5):c.3315C>T (p.T1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925031" "0" "90" "9" "27212708" "27212708" "subst" "0" "02330" "TEK_000005" "g.27212708A>G" "" "" "" "TEK(NM_000459.5):c.2690A>G (p.Y897C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925032" "0" "90" "9" "27212761" "27212761" "subst" "0" "02330" "TEK_000007" "g.27212761C>T" "" "" "" "TEK(NM_000459.5):c.2743C>T (p.R915C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929587" "0" "90" "9" "27212758" "27212758" "subst" "0" "02327" "TEK_000005" "g.27212758C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929588" "0" "90" "9" "27212762" "27212762" "subst" "0" "02327" "TEK_000017" "g.27212762G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931537" "0" "90" "9" "27109620" "27109620" "subst" "0" "04534" "TEK_000081" "g.27109620G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27109622G>A" "" "VUS" "ACMG" "0000931538" "0" "90" "9" "27157930" "27157930" "dup" "0" "04534" "TEK_000082" "g.27157930dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.27157932dup" "" "pathogenic" "ACMG" "0000931539" "11" "90" "9" "27173316" "27173316" "subst" "0" "04534" "TEK_000084" "g.27173316G>T" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.27173318G>T" "" "likely pathogenic (dominant)" "ACMG" "0000931540" "0" "90" "9" "27192486" "27192486" "" "4.06828E-6" "04534" "TEK_000089" "g.27192486G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27192488G>A" "" "pathogenic" "ACMG" "0000931541" "0" "90" "9" "27202970" "27202970" "subst" "0" "04534" "TEK_000085" "g.27202970A>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.27202972A>G" "" "VUS" "" "0000931542" "11" "90" "9" "27220108" "27220108" "subst" "0" "04534" "TEK_000086" "g.27220108C>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.27220110C>A" "" "pathogenic (dominant)" "ACMG" "0000931543" "21" "90" "9" "27228254" "27228254" "subst" "0" "04534" "TEK_000087" "g.27228254C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.27228256C>G" "" "pathogenic" "ACMG" "0000931544" "0" "90" "9" "27228266" "27228266" "subst" "0" "04534" "TEK_000088" "g.27228266T>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "g.27228268T>C" "" "likely pathogenic (dominant)" "ACMG" "0000931545" "0" "90" "9" "27168598" "27168599" "ins" "0" "04534" "TEK_000083" "g.27168598_27168599insTGGT" "" "" "" "" "" "Germline" "" "" "" "" "" "g.27168600_27168601insTGGT" "" "pathogenic" "" "0000949265" "0" "30" "9" "27220094" "27220094" "subst" "0.00145502" "02330" "TEK_000090" "g.27220094C>T" "" "" "" "TEK(NM_000459.5):c.3151C>T (p.L1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949266" "0" "70" "9" "27229216" "27229216" "subst" "0" "02330" "TEK_000091" "g.27229216G>A" "" "" "" "TEK(NM_000459.5):c.3361G>A (p.E1121K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978667" "0" "50" "9" "27206763" "27206763" "subst" "0" "01804" "TEK_000092" "g.27206763A>G" "" "" "" "TEK(NM_000459.5):c.2548A>G (p.(Met850Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978668" "0" "30" "9" "27229517" "27229517" "subst" "0" "01804" "TEK_000093" "g.27229517C>T" "" "" "" "TEK(NM_000459.5):c.*287C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997821" "0" "30" "9" "27173341" "27173341" "subst" "0.000113897" "01804" "TEK_000057" "g.27173341G>C" "" "" "" "TEK(NM_000459.3):c.882G>C (p.(Lys294Asn)), TEK(NM_000459.4):c.882G>C (p.K294N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997822" "0" "30" "9" "27183479" "27183479" "subst" "8.13478E-6" "01804" "TEK_000094" "g.27183479G>C" "" "" "" "TEK(NM_000459.3):c.1053G>C (p.(Lys351Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997824" "0" "50" "9" "27185486" "27185486" "subst" "0" "01804" "TEK_000095" "g.27185486A>G" "" "" "" "TEK(NM_000459.3):c.1186A>G (p.(Lys396Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997825" "0" "50" "9" "27197444" "27197444" "subst" "3.25298E-5" "01804" "TEK_000096" "g.27197444A>G" "" "" "" "TEK(NM_000459.3):c.1756A>G (p.(Ser586Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997826" "0" "50" "9" "27220042" "27220042" "subst" "0" "01804" "TEK_000097" "g.27220042T>G" "" "" "" "TEK(NM_000459.3):c.3104-5T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997827" "0" "50" "9" "27220086" "27220086" "subst" "0" "01804" "TEK_000098" "g.27220086A>T" "" "" "" "TEK(NM_000459.3):c.3143A>T (p.(Tyr1048Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997828" "0" "50" "9" "27228230" "27228230" "subst" "0" "01804" "TEK_000099" "g.27228230G>C" "" "" "" "TEK(NM_000459.3):c.3227G>C (p.(Arg1076Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014529" "0" "30" "9" "27192504" "27192504" "subst" "8.94753E-5" "02330" "TEK_000100" "g.27192504A>G" "" "" "" "TEK(NM_000459.5):c.1507A>G (p.T503A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014530" "0" "10" "9" "27197557" "27197557" "subst" "0.00153814" "02330" "TEK_000101" "g.27197557G>A" "" "" "" "TEK(NM_000459.5):c.1869G>A (p.G623=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025661" "0" "90" "9" "27212708" "27212708" "subst" "0" "02327" "TEK_000005" "g.27212708A>G" "" "" "" "TEK(NM_000459.5):c.2690A>G (p.Y897C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025662" "0" "90" "9" "27228298" "27228298" "subst" "0" "02327" "TEK_000029" "g.27228298C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037476" "0" "50" "9" "27158003" "27158003" "subst" "4.06227E-6" "01804" "TEK_000102" "g.27158003A>G" "" "" "" "TEK(NM_000459.5):c.227A>G (p.(Gln76Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037478" "0" "50" "9" "27205017" "27205017" "subst" "0" "01804" "TEK_000103" "g.27205017A>C" "" "" "" "TEK(NM_000459.5):c.2318A>C (p.(Lys773Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059243" "0" "70" "9" "27202986" "27202986" "subst" "9.76459E-5" "00006" "TEK_000104" "g.27202986C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.27202988C>T" "" "likely pathogenic" "" ## 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 TEK ## Count = 254 "{{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}}" "0000002472" "00000981" "30" "2686" "1045" "2686" "1046" "c.2686+1045_2686+1046del" "r.(?)" "p.(=)" "16i" "0000004707" "00000981" "30" "2686" "996" "2686" "996" "c.2686+996A>G" "r.(?)" "p.(=)" "16i" "0000004708" "00000981" "30" "2686" "1527" "2686" "1527" "c.2686+1527A>G" "r.(?)" "p.(=)" "16i" "0000010489" "00000981" "30" "2686" "1045" "2686" "1046" "c.2686+1045_2686+1046del" "r.(?)" "p.(=)" "16i" "0000012686" "00000981" "30" "2686" "1527" "2686" "1527" "c.2686+1527A>G" "r.(?)" "p.(=)" "16i" "0000147564" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147565" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147566" "00000981" "99" "2690" "0" "2690" "0" "c.2690A>T" "r.(?)" "p.(Tyr897Phe)" "17" "0000147567" "00000981" "99" "2752" "0" "2752" "0" "c.2752C>T" "r.(?)" "p.(Arg918Cys)" "17" "0000147568" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147569" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147570" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147571" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147572" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147573" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147574" "00000981" "99" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Tyr897Cys)" "17" "0000147575" "00000981" "99" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Arg915Cys)" "17" "0000147576" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147577" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147578" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147579" "00000981" "99" "3339" "0" "3339" "0" "c.3339T>A" "r.(?)" "p.(Tyr1113*)" "23" "0000147580" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147581" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147582" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147583" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147584" "00000981" "99" "3324" "0" "3324" "0" "c.3324T>G" "r.(?)" "p.(Tyr1108*)" "23" "0000147585" "00000981" "99" "3321" "0" "3322" "0" "c.3321_3322del" "r.(?)" "p.(Tyr1108*)" "23" "0000147586" "00000981" "99" "2545" "0" "2545" "0" "c.2545C>T" "r.(?)" "p.(Arg849Trp)" "15" "0000147587" "00000981" "99" "2689" "0" "2689" "0" "c.2689T>C" "r.(?)" "p.(Tyr897His)" "17" "0000147588" "00000981" "99" "2753" "0" "2753" "0" "c.2753G>T" "r.(?)" "p.(Arg918Leu)" "17" "0000147589" "00000981" "99" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(Arg1099*)" "22" "0000147590" "00000981" "99" "2753" "0" "2753" "0" "c.2753G>A" "r.(?)" "p.(Arg918His)" "17" "0000147591" "00000981" "99" "2689" "0" "2689" "0" "c.2689T>A" "r.(?)" "p.(Tyr897Asn)" "17" "0000147592" "00000981" "99" "2752" "0" "2752" "0" "c.2752C>G" "r.(?)" "p.(Arg918Gly)" "17" "0000147593" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147594" "00000981" "99" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Tyr897Cys)" "17" "0000147595" "00000981" "99" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Arg915Cys)" "17" "0000147596" "00000981" "77" "2865" "0" "2865" "0" "c.2865G>C" "r.(?)" "p.(Leu955Phe)" "17" "0000147597" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147598" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147599" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147600" "00000981" "99" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Arg915Cys)" "17" "0000147601" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147602" "00000981" "99" "3324" "0" "3324" "0" "c.3324T>A" "r.(?)" "p.(Tyr1108*)" "23" "0000147603" "00000981" "99" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Arg915Cys)" "17" "0000147604" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147605" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147606" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147607" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147608" "00000981" "99" "2693" "0" "2693" "0" "c.2693A>G" "r.(?)" "p.(Tyr897Cys)" "17" "0000147609" "00000981" "99" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(Arg1099*)" "22" "0000147610" "00000981" "99" "2689" "0" "2689" "0" "c.2689T>A" "r.(?)" "p.(Tyr897Asn)" "17" "0000147611" "00000981" "99" "2752" "0" "2752" "0" "c.2752C>T" "r.(?)" "p.(Arg918Cys)" "17" "0000147612" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147613" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147614" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147615" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147616" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147617" "00000981" "99" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Tyr897Cys)" "17" "0000147618" "00000981" "99" "2752" "0" "2752" "0" "c.2752C>T" "r.(?)" "p.(Arg918Cys)" "17" "0000147619" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147620" "00000981" "99" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "17" "0000147621" "00000981" "99" "2689" "0" "2689" "0" "c.2689T>A" "r.(?)" "p.(Tyr897Asn)" "17" "0000147622" "00000981" "99" "3323" "0" "3324" "0" "c.3323_3324del" "r.(?)" "p.(Tyr1108*)" "23" "0000147623" "00000981" "99" "2690" "0" "2690" "0" "c.2690A>T" "r.(?)" "p.(Tyr897Phe)" "17" "0000147624" "00000981" "99" "2744" "0" "2744" "0" "c.2744G>T" "r.(?)" 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"p.(Leu914Phe)" "17" "0000246793" "00000981" "10" "1962" "0" "1962" "0" "c.1962A>G" "r.(?)" "p.(Ser654=)" "" "0000246796" "00000981" "10" "1037" "0" "1037" "0" "c.1037=" "r.(=)" "p.(Pro346=)" "" "0000246800" "00000981" "10" "2209" "17" "2209" "17" "c.2209+17A>G" "r.(=)" "p.(=)" "" "0000246813" "00000981" "10" "2169" "0" "2169" "0" "c.2169A>C" "r.(?)" "p.(Pro723=)" "" "0000248371" "00000981" "10" "1962" "0" "1962" "0" "c.1962A>G" "r.(?)" "p.(Ser654=)" "" "0000248413" "00000981" "10" "1037" "0" "1037" "0" "c.1037=" "r.(=)" "p.(Pro346=)" "" "0000248443" "00000981" "10" "2209" "17" "2209" "17" "c.2209+17A>G" "r.(=)" "p.(=)" "" "0000309113" "00000981" "10" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Val486Ile)" "" "0000309114" "00000981" "10" "1680" "0" "1680" "0" "c.1680T>C" "r.(?)" "p.(Asn560=)" "" "0000309115" "00000981" "10" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(Gln698=)" "" "0000309116" "00000981" "10" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Ala724Thr)" "" "0000309117" "00000981" "10" "234" "0" "234" "0" "c.234G>A" "r.(?)" "p.(Val78=)" "" "0000309118" "00000981" "10" "2454" "0" "2454" "0" "c.2454G>C" "r.(?)" "p.(Val818=)" "" "0000309119" "00000981" "10" "2976" "0" "2976" "0" "c.2976T>C" "r.(?)" "p.(Tyr992=)" "" "0000309120" "00000981" "10" "2991" "17" "2991" "17" "c.2991+17G>C" "r.(=)" "p.(=)" "" "0000309121" "00000981" "10" "3123" "0" "3123" "0" "c.3123G>A" "r.(?)" "p.(Gly1041=)" "" "0000309122" "00000981" "30" "3201" "-4" "3201" "-4" "c.3201-4G>A" "r.spl?" "p.?" "" "0000309123" "00000981" "10" "3301" "-15" "3301" "-15" "c.3301-15T>C" "r.(=)" "p.(=)" "" "0000309124" "00000981" "10" "902" "-10" "902" "-10" "c.902-10C>T" "r.(=)" "p.(=)" "" "0000311781" "00000981" "10" "2976" "0" "2976" "0" "c.2976T>C" "r.(?)" "p.(Tyr992=)" "" "0000332589" "00000981" "50" "1625" "-7" "1625" "-7" "c.1625-7C>T" "r.(=)" "p.(=)" "" "0000332590" "00000981" "50" "1955" "0" "1955" "0" "c.1955A>T" "r.(?)" "p.(His652Leu)" "" "0000537860" "00000981" "10" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Ile148Thr)" "" "0000537861" "00000981" "50" "882" "0" "882" "0" "c.882G>C" "r.(?)" "p.(Lys294Asn)" "" "0000537885" "00000981" "10" "1798" "0" "1798" "0" "c.1798G>T" "r.(?)" "p.(Val600Leu)" "" "0000537886" "00000981" "10" "2322" "0" "2322" "0" "c.2322G>A" "r.(?)" "p.(Arg774=)" "" "0000537887" "00000981" "50" "2343" "0" "2343" "0" "c.2343G>T" "r.(?)" "p.(Met781Ile)" "" "0000537888" "00000981" "50" "2963" "0" "2963" "0" "c.2963G>A" "r.(?)" "p.(Gly988Asp)" "" "0000612071" "00000981" "50" "1334" "0" "1334" "0" "c.1334C>G" "r.(?)" "p.(Pro445Arg)" "" "0000612072" "00000981" "30" "2838" "0" "2838" "0" "c.2838C>T" "r.(?)" "p.(Ala946=)" "" "0000678653" "00000981" "50" "760" "5" "760" "5" "c.760+5G>T" "r.spl?" "p.?" "" "0000690514" "00000981" "30" "309" "0" "309" "0" "c.309A>C" "r.(?)" "p.(Glu103Asp)" "" "0000722475" "00000981" "50" "1311" "0" "1311" "0" "c.1311C>A" "r.(?)" "p.(Phe437Leu)" "" "0000804073" "00000981" "50" "6" "0" "6" "0" "c.6C>A" "r.(?)" "p.(Asp2Glu)" "" "0000804074" "00000981" "10" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Ala46=)" "" "0000804075" "00000981" "50" "778" "0" "778" "0" "c.778T>C" "r.(?)" "p.(Phe260Leu)" "" "0000804078" "00000981" "10" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Thr391Ile)" "" "0000804080" "00000981" "30" "1489" "6" "1489" "6" "c.1489+6C>T" "r.(=)" "p.(=)" "" "0000804081" "00000981" "10" "1625" "-10" "1625" "-10" "c.1625-10A>T" "r.(=)" "p.(=)" "" "0000804082" "00000981" "50" "2228" "0" "2228" "0" "c.2228G>C" "r.(?)" "p.(Gly743Ala)" "" "0000804083" "00000981" "30" "3090" "0" "3090" "0" "c.3090G>A" "r.(?)" "p.(Glu1030=)" "" "0000852240" "00000981" "30" "915" "0" "915" "0" "c.915T>G" "r.(?)" "p.(Gly305=)" "" "0000852246" "00000981" "50" "2347" "0" "2347" "0" "c.2347C>G" "r.(?)" "p.(Gln783Glu)" "" "0000852247" "00000981" "50" "3271" "0" "3271" "0" "c.3271T>C" "r.(?)" "p.(Ser1091Pro)" "" "0000888800" "00000981" "90" "2545" "0" "2545" "0" "c.2545C>T" "r.(?)" "p.(Arg849Trp)" "" "0000888801" "00000981" "10" "3090" "0" "3090" "0" "c.3090G>A" "r.(?)" "p.(Glu1030=)" "" "0000888802" "00000981" "30" "3315" "0" "3315" "0" "c.3315C>T" "r.(?)" "p.(Thr1105=)" "" "0000925031" "00000981" "90" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Tyr897Cys)" "" "0000925032" "00000981" "90" "2743" "0" "2743" "0" "c.2743C>T" "r.(?)" "p.(Arg915Cys)" "" "0000929587" "00000981" "90" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914Phe)" "" "0000929588" "00000981" "90" "2744" "0" "2744" "0" "c.2744G>A" "r.(?)" "p.(Arg915His)" "" "0000931537" "00000981" "90" "32" "0" "32" "0" "c.32G>A" "r.(32g>a)" "p.(Gly11Glu)" "1" "0000931538" "00000981" "90" "154" "0" "154" "0" "c.154dup" "r.(154dup)" "p.(His52ProfsTer2)" "2" "0000931539" "00000981" "90" "857" "0" "857" "0" "c.857G>T" "r.(?)" "p.(Gly286Val)" "6" "0000931540" "00000981" "90" "1490" "-1" "1490" "-1" "c.1490-1G>A" "r.spl" "p.?" "" "0000931541" "00000981" "90" "2062" "0" "2062" "0" "c.2062A>G" "r.(?)" "p.(Lys688Glu)" "13" "0000931542" "00000981" "90" "3165" "0" "3165" "0" "c.3165C>A" "r.(?)" "p.(Tyr1055Ter)" "" "0000931543" "00000981" "90" "3251" "0" "3251" "0" "c.3251C>G" "r.(?)" "p.(Ser1084Ter)" "" "0000931544" "00000981" "90" "3263" "0" "3263" "0" "c.3263T>C" "r.(?)" "p.(Ile1088Thr)" "" "0000931545" "00000981" "90" "470" "0" "471" "0" "c.470_471insTGGT" "r.(?)" "p.(Lys157AsnfsTer14)" "" "0000949265" "00000981" "30" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(=)" "" "0000949266" "00000981" "70" "3361" "0" "3361" "0" "c.3361G>A" "r.(?)" "p.(Glu1121Lys)" "" "0000978667" "00000981" "50" "2548" "0" "2548" "0" "c.2548A>G" "r.(?)" "p.(Met850Val)" "" "0000978668" "00000981" "30" "3662" "0" "3662" "0" "c.*287C>T" "r.(=)" "p.(=)" "" "0000997821" "00000981" "30" "882" "0" "882" "0" "c.882G>C" "r.(?)" "p.(Lys294Asn)" "" "0000997822" "00000981" "30" "1053" "0" "1053" "0" "c.1053G>C" "r.(?)" "p.(Lys351Asn)" "" "0000997824" "00000981" "50" "1186" "0" "1186" "0" "c.1186A>G" "r.(?)" "p.(Lys396Glu)" "" "0000997825" "00000981" "50" "1756" "0" "1756" "0" "c.1756A>G" "r.(?)" "p.(Ser586Gly)" "" "0000997826" "00000981" "50" "3104" "-5" "3104" "-5" "c.3104-5T>G" "r.spl?" "p.?" "" "0000997827" "00000981" "50" "3143" "0" "3143" "0" "c.3143A>T" "r.(?)" "p.(Tyr1048Phe)" "" "0000997828" "00000981" "50" "3227" "0" "3227" "0" "c.3227G>C" "r.(?)" "p.(Arg1076Pro)" "" "0001014529" "00000981" "30" "1507" "0" "1507" "0" "c.1507A>G" "r.(?)" "p.(Thr503Ala)" "" "0001014530" "00000981" "10" "1869" "0" "1869" "0" "c.1869G>A" "r.(?)" "p.(=)" "" "0001025661" "00000981" "90" "2690" "0" "2690" "0" "c.2690A>G" "r.(?)" "p.(Tyr897Cys)" "" "0001025662" "00000981" "90" "3295" "0" "3295" "0" "c.3295C>T" "r.(?)" "p.(Arg1099*)" "" "0001037476" "00000981" "50" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Gln76Arg)" "" "0001037478" "00000981" "50" "2318" "0" "2318" "0" "c.2318A>C" "r.(?)" "p.(Lys773Thr)" "" "0001059243" "00000981" "70" "2078" "0" "2078" "0" "c.2078C>T" "r.(?)" "p.(Thr693Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 186 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002472" "0000000209" "0000004707" "0000000209" "0000004708" "0000000210" "0000010489" "0000000210" "0000012686" "0000089577" "0000147564" "0000089578" "0000147649" "0000089578" "0000147680" "0000089581" "0000147704" "0000089582" "0000147712" "0000089583" "0000147718" "0000089584" "0000147726" "0000089585" "0000147565" "0000089586" "0000147573" "0000089587" "0000147583" "0000089588" "0000147589" "0000089590" "0000147606" "0000089592" "0000147620" "0000089593" "0000147630" "0000089594" "0000147640" "0000089595" "0000147650" "0000089596" "0000147659" "0000089596" "0000147666" "0000089600" "0000147677" "0000089600" "0000147678" "0000089601" "0000147679" "0000089602" "0000147681" "0000089603" "0000147682" "0000089604" "0000147683" "0000089605" "0000147684" "0000089605" "0000147685" "0000089606" "0000147686" "0000089607" "0000147687" "0000089607" "0000147688" "0000089608" "0000147689" "0000089608" "0000147690" "0000089608" "0000147691" "0000089609" "0000147692" "0000089610" "0000147693" "0000089611" "0000147694" "0000089614" "0000147695" "0000089615" "0000147696" "0000089616" "0000147697" "0000089616" "0000147698" "0000089616" "0000147699" "0000089617" "0000147700" "0000089618" "0000147701" "0000089619" "0000147702" "0000089620" "0000147703" "0000089622" "0000147705" "0000089623" "0000147706" "0000089625" "0000147707" "0000089626" "0000147708" "0000089628" "0000147709" "0000089628" "0000147710" "0000089629" "0000147711" "0000089632" "0000147713" "0000089632" "0000147714" "0000089634" "0000147715" "0000089635" "0000147716" "0000089636" "0000147717" "0000089637" "0000147719" "0000089637" "0000147720" "0000089638" "0000147721" "0000089641" "0000147722" "0000089642" "0000147723" "0000089642" "0000147724" "0000089643" "0000147725" "0000089643" "0000147727" "0000089644" "0000147728" "0000089644" "0000147729" "0000089646" "0000147730" "0000089647" "0000147731" "0000089648" "0000147732" "0000089649" "0000147733" "0000089651" "0000147734" "0000089653" "0000147566" "0000089653" "0000147567" "0000089654" "0000147568" "0000089655" "0000147569" "0000089656" "0000147570" "0000089657" "0000147571" "0000089658" "0000147572" "0000089660" "0000147574" "0000089660" "0000147575" "0000089661" "0000147576" "0000089662" "0000147577" "0000089663" "0000147578" "0000089665" "0000147579" "0000089666" "0000147580" "0000089667" "0000147581" "0000089668" "0000147582" "0000089669" "0000147584" "0000089669" "0000147585" "0000089669" "0000147586" "0000089673" "0000147587" "0000089673" "0000147588" "0000089675" "0000147590" "0000089676" "0000147591" "0000089676" "0000147592" "0000089677" "0000147593" "0000089678" "0000147594" "0000089678" "0000147595" "0000089679" "0000147596" "0000089680" "0000147597" "0000089681" "0000147598" "0000089683" "0000147599" "0000089684" "0000147600" "0000089686" "0000147601" "0000089687" "0000147602" "0000089688" "0000147603" "0000089690" "0000147604" "0000089691" "0000147605" "0000089693" "0000147607" "0000089696" "0000147608" "0000089696" "0000147609" "0000089697" "0000147610" "0000089697" "0000147611" "0000089700" "0000147612" "0000089701" "0000147613" "0000089702" "0000147614" "0000089703" "0000147615" "0000089704" "0000147616" "0000089705" "0000147617" "0000089705" "0000147618" "0000089706" "0000147619" "0000089707" "0000147621" "0000089707" "0000147622" "0000089708" "0000147623" "0000089708" "0000147624" "0000089709" "0000147625" "0000089709" "0000147626" "0000089710" "0000147627" "0000089710" "0000147628" "0000089711" "0000147629" "0000089711" "0000147631" "0000089713" "0000147632" "0000089713" "0000147633" "0000089714" "0000147634" "0000089714" "0000147635" "0000089715" "0000147636" "0000089716" "0000147637" "0000089717" "0000147638" "0000089717" "0000147639" "0000089718" "0000147641" "0000089718" "0000147642" "0000089719" "0000147643" "0000089719" "0000147644" "0000089720" "0000147645" "0000089721" "0000147646" "0000089722" "0000147647" "0000089723" "0000147648" "0000089723" "0000147674" "0000089724" "0000147651" "0000089725" "0000147652" "0000089726" "0000147653" "0000089727" "0000147654" "0000089728" "0000147655" "0000089729" "0000147656" "0000089730" "0000147657" "0000089731" "0000147658" "0000089732" "0000147660" "0000089733" "0000147661" "0000089735" "0000147662" "0000089736" "0000147663" "0000089737" "0000147664" "0000089738" "0000147665" "0000089739" "0000147667" "0000089740" "0000147668" "0000089741" "0000147669" "0000089742" "0000147670" "0000089743" "0000147671" "0000089744" "0000147672" "0000089745" "0000147673" "0000089746" "0000147675" "0000089746" "0000147676" "0000436860" "0000931537" "0000436861" "0000931538" "0000436862" "0000931539" "0000436863" "0000931540" "0000436864" "0000931541" "0000436865" "0000931542" "0000436867" "0000931543" "0000436868" "0000931544" "0000436869" "0000931545" "0000471121" "0001059243"