### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STAT3) # 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}}" "STAT3" "signal transducer and activator of transcription 3 (acute-phase response factor)" "17" "q21" "unknown" "NG_007370.1" "UD_132084463850" "" "https://www.LOVD.nl/STAT3" "" "1" "11364" "6774" "102582" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/STAT3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-05 10:42:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020438" "STAT3" "transcript variant 1" "002" "NM_139276.2" "" "NP_644805.1" "" "" "" "-240" "4733" "2313" "40540513" "40465343" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01398" "HIES1" "Hyper-IgE recurrent infection syndrome" "AD" "147060" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04678" "ADMIO1" "autoimmune disease, multisystem, infantile-onset" "AD" "615952" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STAT3" "01398" "STAT3" "04678" ## Individuals ## Do not remove or alter this header ## ## Count = 69 "{{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}}" "00079926" "" "" "" "1" "" "01742" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00079927" "" "" "" "1" "" "01742" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00079928" "" "" "" "1" "" "01742" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00079929" "" "" "" "1" "" "01742" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00079930" "" "" "" "1" "" "01742" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00079931" "" "" "" "1" "" "01742" "" "" "" "" "" "" "0" "" "" "" "" "00079932" "" "" "" "1" "" "01742" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00079933" "" "" "" "1" "" "01742" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00079934" "" "" "" "1" "" "01742" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00079935" "" "" "" "1" "" "01742" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00079936" "" "" "" "1" "" "01742" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00079937" "" "" "" "1" "" "01742" "{PMID:Liu 2011:21107604}" "" "M" "" "" "" "0" "" "" "" "" "00079938" "" "" "" "1" "" "01742" "{PMID:Renner 2008:18602572}" "" "M" "" "" "" "0" "" "" "" "" "00079939" "" "" "" "1" "" "01742" "{PMID:Renner 2008:18602572}" "" "F" "" "" "" "0" "" "" "" "" "00079940" "" "" "" "1" "" "01742" "{PMID:Renner 2008:18602572}" "" "M" "" "" "" "0" "" "" "" "" "00079941" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "?" "" "United States" "" "0" "" "" "" "" "00079942" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079943" "" "" "" "2" "" "01742" "{PMID:Holland 2007:17881745}" "3-generation family, affected father/daugther, unaffected non-carrier parents" "F;M" "" "United States" "" "0" "" "" "" "" "00079944" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079945" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079946" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079947" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079948" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079949" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079950" "" "" "" "1" "" "01742" "{PMID:Holland 2007:17881745}" "" "" "" "United States" "" "0" "" "" "" "" "00079952" "" "" "" "1" "" "01742" "{PMID:Flanagan 2014:25038750}" "" "" "" "" "" "0" "" "" "" "" "00079953" "" "" "" "1" "" "01742" "{PMID:Flanagan 2014:25038750}" "" "F" "" "" "" "0" "" "" "" "" "00079954" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079955" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079956" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079957" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079959" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079960" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079961" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079962" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079963" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079964" "" "" "" "1" "" "01742" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00079965" "" "" "" "1" "" "01742" "{PMID:Scaglia 2012:22419735}" "" "" "" "" "" "0" "" "" "" "" "00081765" "" "" "" "1" "" "00006" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00081766" "" "" "" "1" "" "00006" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00081767" "" "" "" "1" "" "00006" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00081768" "" "" "" "1" "" "00006" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00081769" "" "" "" "1" "" "00006" "{PMID:Koskela 2012:22591296}" "" "" "" "" "" "0" "" "" "" "" "00081771" "" "" "" "1" "" "00006" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00081772" "" "" "" "1" "" "00006" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00081773" "" "" "" "1" "" "00006" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00081774" "" "" "" "1" "" "00006" "{PMID:Pilati 2011:21690253}" "" "" "" "" "" "0" "" "" "" "" "00081775" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21107604}" "" "" "" "" "" "0" "" "" "" "" "00081776" "" "" "" "1" "" "00006" "{PMID:Renner 2008:18602572}" "" "" "" "" "" "0" "" "" "" "" "00081777" "" "" "" "1" "" "00006" "{PMID:Renner 2008:18602572}" "" "" "" "" "" "0" "" "" "" "" "00081778" "" "" "" "1" "" "00006" "{PMID:Renner 2008:18602572}" "" "" "" "" "" "0" "" "" "" "" "00081789" "" "" "" "1" "" "00006" "{PMID:Flanagan 2014:25038750}" "" "" "" "" "" "0" "" "" "" "" "00081790" "" "" "" "1" "" "00006" "{PMID:Flanagan 2014:25038750}" "" "" "" "" "" "0" "" "" "" "" "00081791" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081792" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081793" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081794" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081795" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081796" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081797" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081798" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081799" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081800" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00081801" "" "" "" "1" "" "00006" "{PMID:Jerez 2012:22859607}" "" "" "" "" "" "0" "" "" "" "" "00104000" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-119A" "00335034" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00433084" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Mexico" "" "0" "" "" "" "Pat60,1" "00433090" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "2-generation family, 3 affected sibs, mildly affected mosaic father" "F" "" "United States" "" "0" "" "" "Europe" "Pat66,1" "00433119" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Norway" "" "0" "" "" "" "Pat96,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 43 "{{individualid}}" "{{diseaseid}}" "00079926" "00198" "00079927" "00198" "00079928" "00198" "00079929" "00198" "00079930" "00198" "00079931" "00198" "00079932" "00198" "00079933" "00198" "00079934" "00198" "00079935" "00198" "00079936" "00198" "00079937" "01398" "00079938" "01398" "00079939" "01398" "00079940" "01398" "00079941" "01398" "00079942" "01398" "00079943" "01398" "00079944" "01398" "00079945" "01398" "00079946" "01398" "00079947" "01398" "00079948" "01398" "00079949" "01398" "00079950" "01398" "00079952" "04678" "00079953" "04678" "00079954" "00198" "00079955" "00198" "00079956" "00198" "00079957" "00198" "00079959" "00198" "00079960" "00198" "00079961" "00198" "00079962" "00198" "00079963" "00198" "00079964" "00198" "00079965" "00198" "00104000" "03381" "00335034" "05793" "00433084" "05292" "00433090" "05292" "00433119" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01398, 03381, 04678, 05292, 05793 ## Count = 43 "{{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}}" "0000061406" "00198" "00079926" "01742" "Unknown" "" "Diagnosis: T-cell large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061407" "00198" "00079927" "01742" "Unknown" "" "Diagnosis: T-cell large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061408" "00198" "00079928" "01742" "Unknown" "" "Diagnosis: T-cell large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061409" "00198" "00079929" "01742" "Unknown" "" "Diagnosis: T-cell large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061410" "00198" "00079930" "01742" "Unknown" "" "T-cell large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061411" "00198" "00079931" "01742" "Unknown" "" "T-cell large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061412" "00198" "00079932" "01742" "Unknown" "" "T-cell large granular lymphocytic leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061413" "00198" "00079933" "01742" "Unknown" "" "Inflammatory hepatocellular adenoma (IHCA)" "" "" "" "" "" "" "" "" "" "" "" "0000061414" "00198" "00079934" "01742" "Unknown" "" "Inflammatory hepatocellular adenoma (IHCA)" "" "" "" "" "" "" "" "" "" "" "" "0000061415" "00198" "00079935" "01742" "Unknown" "" "Inflammatory hepatocellular adenoma (IHCA)" "" "" "" "" "" "" "" "" "" "" "" "0000061416" "00198" "00079936" "01742" "Unknown" "" "Inflammatory hepatocellular adenoma (IHCA)" "" "" "" "" "" "" "" "" "" "" "" "0000061417" "01398" "00079937" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061418" "01398" "00079938" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061419" "01398" "00079939" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061420" "01398" "00079940" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061421" "01398" "00079941" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061422" "01398" "00079942" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061423" "01398" "00079943" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061424" "01398" "00079944" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061425" "01398" "00079945" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061426" "01398" "00079946" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061427" "01398" "00079947" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061428" "01398" "00079948" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061429" "01398" "00079949" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061430" "01398" "00079950" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061432" "04678" "00079952" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061433" "04678" "00079953" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061434" "00198" "00079954" "01742" "Unknown" "" "T-cell large granular lymphocytic leukemia (T-LGL)" "" "" "" "" "" "" "" "" "" "" "" "0000061435" "00198" "00079955" "01742" "Unknown" "" "Chronic lymphoproliferative disorder of natural killer cells (CLPD-NK)" "" "" "" "" "" "" "" "" "" "" "" "0000061436" "00198" "00079956" "01742" "Unknown" "" "T-cell large granular lymphocyte leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061437" "00198" "00079957" "01742" "Unknown" "" "Chronic lymphoproliferative disorder of NK cells" "" "" "" "" "" "" "" "" "" "" "" "0000061439" "00198" "00079959" "01742" "Unknown" "" "T-cell large granular lymphocyte leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061440" "00198" "00079960" "01742" "Unknown" "" "Chronic lymphoproliferative disorder of NK cells" "" "" "" "" "" "" "" "" "" "" "" "0000061441" "00198" "00079961" "01742" "Unknown" "" "T-cell large granular lymphocyte leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061442" "00198" "00079962" "01742" "Unknown" "" "T-cell large granular lymphocyte leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000061443" "00198" "00079963" "01742" "Unknown" "" "Chronic lymphoproliferative disorder of NK cells" "" "" "" "" "" "" "" "" "" "" "" "0000061444" "00198" "00079964" "01742" "Unknown" "" "Chronic lymphoproliferative disorder of NK cells" "" "" "" "" "" "" "" "" "" "" "" "0000061445" "00198" "00079965" "01742" "Unknown" "" "T-cell large granular lymphocyte leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000081934" "03381" "00104000" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000253316" "05793" "00335034" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000323610" "05292" "00433084" "00006" "Familial, autosomal dominant" "3y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323616" "05292" "00433090" "00006" "Familial, autosomal dominant" "3y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323645" "05292" "00433119" "00006" "Isolated (sporadic)" "10y" "neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 69 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080005" "00079926" "1" "01742" "01742" "2016-08-29 09:30:21" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080006" "00079927" "1" "01742" "01742" "2016-08-29 09:42:31" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080007" "00079928" "1" "01742" "01742" "2016-08-29 09:47:02" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080008" "00079929" "1" "01742" "01742" "2016-08-29 09:50:14" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080009" "00079930" "1" "01742" "01742" "2016-08-29 09:51:54" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080010" "00079931" "1" "01742" "01742" "2016-08-29 09:53:21" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080011" "00079932" "1" "01742" "01742" "2016-08-29 09:54:51" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080012" "00079933" "1" "01742" "01742" "2016-08-29 10:11:46" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080013" "00079934" "1" "01742" "01742" "2016-08-29 10:20:28" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080014" "00079935" "1" "01742" "01742" "2016-08-29 10:23:56" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080015" "00079936" "1" "01742" "01742" "2016-08-29 10:27:39" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080016" "00079937" "1" "01742" "01742" "2016-08-29 10:35:00" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080017" "00079938" "1" "01742" "01742" "2016-08-29 10:46:52" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080018" "00079939" "1" "01742" "01742" "2016-08-29 10:50:38" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080019" "00079940" "1" "01742" "01742" "2016-08-29 10:58:19" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080020" "00079941" "1" "01742" "01742" "2016-08-29 11:12:03" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080021" "00079942" "1" "01742" "01742" "2016-08-29 11:16:39" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080022" "00079943" "1" "01742" "01742" "2016-08-29 11:18:26" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080023" "00079944" "1" "01742" "01742" "2016-08-29 11:21:22" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080024" "00079945" "1" "01742" "01742" "2016-08-29 11:23:50" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080025" "00079946" "1" "01742" "01742" "2016-08-29 11:25:40" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080026" "00079947" "1" "01742" "01742" "2016-08-29 11:27:17" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080027" "00079948" "1" "01742" "01742" "2016-08-29 11:29:54" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080028" "00079949" "1" "01742" "01742" "2016-08-29 11:31:19" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080029" "00079950" "1" "01742" "01742" "2016-08-29 11:32:45" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080031" "00079952" "1" "01742" "01742" "2016-08-29 13:42:32" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080032" "00079953" "1" "01742" "01742" "2016-08-29 13:45:26" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080033" "00079954" "1" "01742" "01742" "2016-08-29 13:53:24" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080034" "00079955" "1" "01742" "01742" "2016-08-29 13:59:39" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080035" "00079956" "1" "01742" "01742" "2016-08-29 14:03:11" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080036" "00079957" "1" "01742" "01742" "2016-08-29 14:05:49" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080037" "00079959" "1" "01742" "01742" "2016-08-29 14:07:57" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080038" "00079960" "1" "01742" "01742" "2016-08-29 14:09:40" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080039" "00079961" "1" "01742" "01742" "2016-08-29 14:11:03" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080040" "00079962" "1" "01742" "01742" "2016-08-29 14:15:08" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080041" "00079963" "1" "01742" "01742" "2016-08-29 14:17:18" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080042" "00079964" "1" "01742" "01742" "2016-08-29 14:18:33" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080043" "00079965" "1" "01742" "01742" "2016-08-29 14:21:35" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000081895" "00081765" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081896" "00081766" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081897" "00081767" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081898" "00081768" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081899" "00081769" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081901" "00081771" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081902" "00081772" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081903" "00081773" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081904" "00081774" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081905" "00081775" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081906" "00081776" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081907" "00081777" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081908" "00081778" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081919" "00081789" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081920" "00081790" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081921" "00081791" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081922" "00081792" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081923" "00081793" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081924" "00081794" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081925" "00081795" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081926" "00081796" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081927" "00081797" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081928" "00081798" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081929" "00081799" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081930" "00081800" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000081931" "00081801" "1" "00006" "00006" "2016-10-22 16:33:40" "" "" "SEQ" "DNA" "" "" "0000104471" "00104000" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000336263" "00335034" "1" "04011" "04011" "2021-03-03 05:19:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000434515" "00433084" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434521" "00433090" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434550" "00433119" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{geneid}}" "0000080005" "STAT3" "0000080006" "STAT3" "0000080007" "STAT3" "0000080008" "STAT3" "0000080009" "STAT3" "0000080010" "STAT3" "0000080011" "STAT3" "0000080012" "STAT3" "0000080013" "STAT3" "0000080014" "STAT3" "0000080015" "STAT3" "0000080016" "STAT3" "0000080017" "STAT3" "0000080018" "STAT3" "0000080019" "STAT3" "0000080020" "STAT3" "0000080021" "STAT3" "0000080022" "STAT3" "0000080023" "STAT3" "0000080024" "STAT3" "0000080025" "STAT3" "0000080026" "STAT3" "0000080027" "STAT3" "0000080028" "STAT3" "0000080029" "STAT3" "0000080031" "STAT3" "0000080032" "STAT3" "0000080033" "STAT3" "0000080034" "STAT3" "0000080035" "STAT3" "0000080036" "STAT3" "0000080037" "STAT3" "0000080038" "STAT3" "0000080039" "STAT3" "0000080040" "STAT3" "0000080041" "STAT3" "0000080042" "STAT3" "0000080043" "STAT3" "0000081895" "STAT3" "0000081896" "STAT3" "0000081897" "STAT3" "0000081898" "STAT3" "0000081899" "STAT3" "0000081901" "STAT3" "0000081902" "STAT3" "0000081903" "STAT3" "0000081904" "STAT3" "0000081905" "STAT3" "0000081906" "STAT3" "0000081907" "STAT3" "0000081908" "STAT3" "0000081919" "STAT3" "0000081920" "STAT3" "0000081921" "STAT3" "0000081922" "STAT3" "0000081923" "STAT3" "0000081924" "STAT3" "0000081925" "STAT3" "0000081926" "STAT3" "0000081927" "STAT3" "0000081928" "STAT3" "0000081929" "STAT3" "0000081930" "STAT3" "0000081931" "STAT3" ## 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 = 132 "{{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}}" "0000128883" "0" "50" "17" "40474419" "40474419" "subst" "0" "01742" "STAT3_000024" "g.40474419T>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322401T>A" "" "VUS" "" "0000128884" "0" "50" "17" "40474420" "40474420" "subst" "0" "01742" "STAT3_000025" "g.40474420C>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>A" "" "VUS" "" "0000128885" "0" "50" "17" "40474420" "40474420" "subst" "0" "01742" "STAT3_000026" "g.40474420C>G" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>G" "" "VUS" "" "0000128886" "0" "50" "17" "40474482" "40474482" "subst" "0" "01742" "STAT3_000012" "g.40474482T>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000128887" "0" "50" "17" "40474461" "40474461" "subst" "0" "01742" "STAT3_000008" "g.40474461T>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322443T>A" "" "VUS" "" "0000128888" "0" "50" "17" "40474427" "40474427" "subst" "0" "01742" "STAT3_000001" "g.40474427C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.42322409C>A" "" "VUS" "" "0000128889" "0" "50" "17" "40474429" "40474431" "dup" "0" "01742" "STAT3_000003" "g.40474429_40474431dup" "" "{PMID:Koskela 2012:22591296}" "" "1971_1972insTAT" "" "Germline" "" "" "0" "" "" "g.42322411_42322413dup" "" "VUS" "" "0000128890" "0" "50" "17" "40474482" "40474482" "subst" "0" "01742" "STAT3_000012" "g.40474482T>A" "" "{PMID:Pilati 2011:21690253}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000128891" "0" "50" "17" "40474432" "40474433" "ins" "0" "01742" "STAT3_000006" "g.40474432_40474433insAAA" "" "{PMID:Pilati 2011:21690253}" "" "" "" "Germline" "" "" "0" "" "" "g.42322414_42322415insAAA" "" "VUS" "" "0000128892" "0" "50" "17" "40474421" "40474432" "dup" "0" "01742" "STAT3_000028" "g.40474421_40474432dup" "" "{PMID:Pilati 2011:21690253}" "" "" "" "Somatic" "" "" "0" "" "" "g.42322403_42322414dup" "" "VUS" "" "0000128893" "0" "50" "17" "40474427" "40474429" "delins" "0" "01742" "STAT3_000060" "g.40474427_40474429delinsATA" "" "{PMID:Pilati 2011:21690253}" "" "[1972A>T;1974G>T]" "" "Somatic" "" "" "0" "" "" "g.42322409_42322411delinsATA" "" "VUS" "" "0000128894" "0" "50" "17" "40474431" "40474431" "subst" "0" "01742" "STAT3_000004" "g.40474431T>G" "" "{PMID:Liu 2011:21107604}" "" "" "" "Germline" "" "" "0" "" "" "g.42322413T>G" "" "VUS" "" "0000128895" "0" "50" "17" "40475052" "40475052" "subst" "0" "01742" "STAT3_000020" "g.40475052T>C" "" "{PMID:Renner 2008:18602572}" "" "" "" "Germline" "" "" "0" "" "" "g.42323034T>C" "" "VUS" "" "0000128896" "0" "50" "17" "40474494" "40474494" "subst" "0" "01742" "STAT3_000017" "g.40474494G>A" "" "{PMID:Renner 2008:18602572}" "" "" "" "Germline" "" "" "0" "" "" "g.42322476G>A" "" "VUS" "" "0000128897" "0" "50" "17" "40474488" "40474488" "subst" "0" "01742" "STAT3_000014" "g.40474488T>C" "" "{PMID:Renner 2008:18602572}" "" "" "" "Germline" "" "" "0" "" "" "g.42322470T>C" "" "VUS" "" "0000128898" "0" "90" "17" "40475078" "40475078" "subst" "0" "01742" "STAT3_000023" "g.40475078C>T" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42323060C>T" "" "pathogenic" "" "0000128899" "0" "90" "17" "40475049" "40475049" "subst" "0" "01742" "STAT3_000019" "g.40475049A>C" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42323031A>C" "" "pathogenic" "" "0000128900" "0" "90" "17" "40475045" "40475045" "subst" "0" "01742" "STAT3_000018" "g.40475045G>A" "" "{PMID:Holland 2007:17881745}" "" "" "" "De novo" "" "" "0" "" "" "g.42323027G>A" "" "pathogenic" "" "0000128901" "0" "90" "17" "40474492" "40474492" "subst" "0" "01742" "STAT3_000015" "g.40474492C>T" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42322474C>T" "" "pathogenic" "" "0000128902" "0" "90" "17" "40474492" "40474492" "subst" "0" "01742" "STAT3_000016" "g.40474492C>A" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42322474C>A" "" "pathogenic" "" "0000128903" "0" "90" "17" "40474486" "40474486" "subst" "0" "01742" "STAT3_000013" "g.40474486G>C" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42322468G>C" "" "pathogenic" "" "0000128904" "0" "90" "17" "40474474" "40474476" "del" "0" "01742" "STAT3_000011" "g.40474474_40474476del" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42322456_42322458del" "" "pathogenic" "" "0000128905" "0" "90" "17" "40474462" "40474462" "subst" "0" "01742" "STAT3_000009" "g.40474462T>C" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42322444T>C" "" "pathogenic" "" "0000128906" "0" "90" "17" "40474447" "40474447" "subst" "0" "01742" "STAT3_000007" "g.40474447C>T" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42322429C>T" "" "pathogenic" "" "0000128907" "0" "90" "17" "40474431" "40474431" "subst" "0" "01742" "STAT3_000005" "g.40474431T>C" "" "{PMID:Holland 2007:17881745}" "" "" "" "Germline" "" "" "0" "" "" "g.42322413T>C" "" "pathogenic" "" "0000128908" "0" "50" "17" "40474463" "40474463" "subst" "0" "01742" "STAT3_000010" "g.40474463G>C" "" "{PMID:Flanagan 2014:25038750}" "" "" "" "De novo" "" "" "0" "" "" "g.42322445G>C" "" "VUS" "" "0000128909" "0" "50" "17" "40474427" "40474427" "subst" "0" "01742" "STAT3_000002" "g.40474427C>G" "" "{PMID:Flanagan 2014:25038750}" "" "" "" "De novo" "" "" "0" "" "" "g.42322409C>G" "" "VUS" "" "0000128910" "0" "50" "17" "40475068" "40475068" "subst" "0" "01742" "STAT3_000022" "g.40475068G>T" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42323050G>T" "" "VUS" "" "0000128911" "0" "50" "17" "40475058" "40475058" "subst" "0" "01742" "STAT3_000021" "g.40475058C>G" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42323040C>G" "" "VUS" "" "0000128912" "0" "50" "17" "40474482" "40474482" "subst" "0" "01742" "STAT3_000012" "g.40474482T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000128913" "0" "50" "17" "40474482" "40474482" "subst" "0" "01742" "STAT3_000012" "g.40474482T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000128914" "0" "50" "17" "40474461" "40474461" "subst" "0" "01742" "STAT3_000008" "g.40474461T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322443T>A" "" "VUS" "" "0000128915" "0" "50" "17" "40474461" "40474461" "subst" "0" "01742" "STAT3_000008" "g.40474461T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322443T>A" "" "VUS" "" "0000128916" "0" "50" "17" "40474427" "40474427" "subst" "0" "01742" "STAT3_000001" "g.40474427C>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322409C>A" "" "VUS" "" "0000128917" "0" "50" "17" "40474420" "40474420" "subst" "0" "01742" "STAT3_000025" "g.40474420C>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>A" "" "VUS" "" "0000128918" "0" "50" "17" "40474420" "40474420" "subst" "0" "01742" "STAT3_000025" "g.40474420C>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>A" "" "VUS" "" "0000128919" "0" "50" "17" "40474420" "40474420" "subst" "0" "01742" "STAT3_000027" "g.40474420C>T" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>T" "" "VUS" "" "0000128920" "0" "50" "17" "40474419" "40474419" "subst" "0" "01742" "STAT3_000024" "g.40474419T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322401T>A" "" "VUS" "" "0000132598" "0" "50" "17" "40474419" "40474419" "subst" "0" "00006" "STAT3_000024" "g.40474419T>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322401T>A" "" "VUS" "" "0000132599" "0" "50" "17" "40474420" "40474420" "subst" "0" "00006" "STAT3_000025" "g.40474420C>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>A" "" "VUS" "" "0000132600" "0" "50" "17" "40474420" "40474420" "subst" "0" "00006" "STAT3_000026" "g.40474420C>G" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>G" "" "VUS" "" "0000132601" "0" "50" "17" "40474482" "40474482" "subst" "0" "00006" "STAT3_000012" "g.40474482T>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000132602" "0" "50" "17" "40474461" "40474461" "subst" "0" "00006" "STAT3_000008" "g.40474461T>A" "" "{PMID:Koskela 2012:22591296}" "" "" "" "Germline" "" "" "0" "" "" "g.42322443T>A" "" "VUS" "" "0000132604" "0" "50" "17" "40474482" "40474482" "subst" "0" "00006" "STAT3_000012" "g.40474482T>A" "" "{PMID:Pilati 2011:21690253}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000132605" "0" "50" "17" "40474432" "40474433" "ins" "0" "00006" "STAT3_000006" "g.40474432_40474433insAAA" "" "{PMID:Pilati 2011:21690253}" "" "" "" "Germline" "" "" "0" "" "" "g.42322414_42322415insAAA" "" "VUS" "" "0000132606" "0" "50" "17" "40474421" "40474432" "dup" "0" "00006" "STAT3_000028" "g.40474421_40474432dup" "" "{PMID:Pilati 2011:21690253}" "" "" "" "Germline" "" "" "0" "" "" "g.42322403_42322414dup" "" "VUS" "" "0000132607" "0" "50" "17" "40474429" "40474429" "subst" "0" "00006" "STAT3_000029" "g.40474429T>A; g.40474429C>A" "" "{PMID:Pilati 2011:21690253}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000132608" "0" "50" "17" "40474431" "40474431" "subst" "0" "00006" "STAT3_000004" "g.40474431T>G" "" "{PMID:Liu 2011:21107604}" "" "" "" "Germline" "" "" "0" "" "" "g.42322413T>G" "" "VUS" "" "0000132609" "0" "50" "17" "40475052" "40475052" "subst" "0" "00006" "STAT3_000020" "g.40475052T>C" "" "{PMID:Renner 2008:18602572}" "" "" "" "Germline" "" "" "0" "" "" "g.42323034T>C" "" "VUS" "" "0000132610" "0" "50" "17" "40474494" "40474494" "subst" "0" "00006" "STAT3_000017" "g.40474494G>A" "" "{PMID:Renner 2008:18602572}" "" "" "" "Germline" "" "" "0" "" "" "g.42322476G>A" "" "VUS" "" "0000132611" "0" "50" "17" "40474488" "40474488" "subst" "0" "00006" "STAT3_000014" "g.40474488T>C" "" "{PMID:Renner 2008:18602572}" "" "" "" "Germline" "" "" "0" "" "" "g.42322470T>C" "" "VUS" "" "0000132622" "0" "50" "17" "40474463" "40474463" "subst" "0" "00006" "STAT3_000010" "g.40474463G>C" "" "{PMID:Flanagan 2014:25038750}" "" "" "" "Germline" "" "" "0" "" "" "g.42322445G>C" "" "VUS" "" "0000132623" "0" "50" "17" "40474427" "40474427" "subst" "0" "00006" "STAT3_000002" "g.40474427C>G" "" "{PMID:Flanagan 2014:25038750}" "" "" "" "Germline" "" "" "0" "" "" "g.42322409C>G" "" "VUS" "" "0000132624" "0" "50" "17" "40475068" "40475068" "subst" "0" "00006" "STAT3_000022" "g.40475068G>T" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42323050G>T" "" "VUS" "" "0000132625" "0" "50" "17" "40475058" "40475058" "subst" "0" "00006" "STAT3_000021" "g.40475058C>G" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42323040C>G" "" "VUS" "" "0000132626" "0" "50" "17" "40474482" "40474482" "subst" "0" "00006" "STAT3_000012" "g.40474482T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000132627" "0" "50" "17" "40474482" "40474482" "subst" "0" "00006" "STAT3_000012" "g.40474482T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322464T>A" "" "VUS" "" "0000132628" "0" "50" "17" "40474461" "40474461" "subst" "0" "00006" "STAT3_000008" "g.40474461T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322443T>A" "" "VUS" "" "0000132629" "0" "50" "17" "40474461" "40474461" "subst" "0" "00006" "STAT3_000008" "g.40474461T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322443T>A" "" "VUS" "" "0000132630" "0" "50" "17" "40474427" "40474427" "subst" "0" "00006" "STAT3_000001" "g.40474427C>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322409C>A" "" "VUS" "" "0000132631" "0" "50" "17" "40474420" "40474420" "subst" "0" "00006" "STAT3_000025" "g.40474420C>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>A" "" "VUS" "" "0000132632" "0" "50" "17" "40474420" "40474420" "subst" "0" "00006" "STAT3_000025" "g.40474420C>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>A" "" "VUS" "" "0000132633" "0" "50" "17" "40474420" "40474420" "subst" "0" "00006" "STAT3_000027" "g.40474420C>T" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322402C>T" "" "VUS" "" "0000132634" "0" "50" "17" "40474419" "40474419" "subst" "0" "00006" "STAT3_000024" "g.40474419T>A" "" "{PMID:Jerez 2012:22859607}" "" "" "" "Germline" "" "" "0" "" "" "g.42322401T>A" "" "VUS" "" "0000169294" "0" "70" "17" "40481624" "40481624" "subst" "0" "00587" "STAT3_000030" "g.40481624A>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_139276.2(STAT3):c.1181T>C p.(Met394Thr)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.42329606A>G" "" "likely pathogenic" "" "0000314168" "0" "70" "17" "40483520" "40483520" "subst" "0" "02326" "STAT3_000038" "g.40483520T>C" "" "" "" "STAT3(NM_139276.2):c.1079A>G (p.Y360C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42331502T>C" "" "likely pathogenic" "" "0000314169" "0" "30" "17" "40478170" "40478170" "subst" "0.000170564" "02326" "STAT3_000037" "g.40478170G>A" "" "" "" "STAT3(NM_139276.2):c.1329C>T (p.T443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42326152G>A" "" "likely benign" "" "0000314170" "0" "30" "17" "40475653" "40475653" "dup" "0" "02326" "STAT3_000034" "g.40475653dup" "" "" "" "STAT3(NM_139276.2):c.1601-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42323635dup" "" "likely benign" "" "0000314171" "0" "90" "17" "40474492" "40474492" "subst" "0" "02326" "STAT3_000015" "g.40474492C>T" "" "" "" "STAT3(NM_139276.2):c.1909G>A (p.V637M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42322474C>T" "" "pathogenic" "" "0000314172" "0" "30" "17" "40489939" "40489958" "del" "0" "02326" "STAT3_000041" "g.40489939_40489958del" "" "" "" "STAT3(NM_139276.2):c.551-37_551-18delATTCCCTCAGGTCAAGGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42337921_42337940del" "" "likely benign" "" "0000314173" "0" "30" "17" "40489799" "40489799" "subst" "2.43786E-5" "02326" "STAT3_000040" "g.40489799C>T" "" "" "" "STAT3(NM_139276.2):c.627G>A (p.A209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42337781C>T" "" "likely benign" "" "0000315789" "0" "30" "17" "40478170" "40478170" "subst" "0.000170564" "01943" "STAT3_000037" "g.40478170G>A" "" "" "" "STAT3(NM_139276.2):c.1329C>T (p.T443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42326152G>A" "" "likely benign" "" "0000315790" "0" "50" "17" "40469241" "40469241" "subst" "1.22201E-5" "01943" "STAT3_000033" "g.40469241G>A" "" "" "" "STAT3(NM_139276.2):c.2103C>T (p.S701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42317223G>A" "" "VUS" "" "0000315791" "0" "10" "17" "40489539" "40489539" "subst" "0.0015841" "01943" "STAT3_000039" "g.40489539G>A" "" "" "" "STAT3(NM_139276.2):c.711C>T (p.D237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42337521G>A" "" "benign" "" "0000337978" "0" "10" "17" "40481529" "40481529" "subst" "0.587545" "02327" "STAT3_000048" "g.40481529G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42329511G>C" "" "benign" "" "0000337979" "0" "90" "17" "40481796" "40481796" "subst" "0" "02327" "STAT3_000051" "g.40481796T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42329778T>C" "" "pathogenic" "" "0000342777" "0" "90" "17" "40481660" "40481660" "subst" "0" "02327" "STAT3_000049" "g.40481660C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42329642C>T" "" "pathogenic" "" "0000342778" "0" "90" "17" "40481661" "40481661" "subst" "0" "02327" "STAT3_000050" "g.40481661G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42329643G>A" "" "pathogenic" "" "0000348356" "0" "50" "17" "40485975" "40485975" "subst" "0" "02327" "STAT3_000052" "g.40485975G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42333957G>A" "" "VUS" "" "0000349038" "0" "50" "17" "40477018" "40477018" "subst" "0" "02327" "STAT3_000046" "g.40477018G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42325000G>C" "" "VUS" "" "0000350179" "0" "90" "17" "40469231" "40469231" "subst" "0" "02327" "STAT3_000043" "g.40469231A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42317213A>T" "" "pathogenic" "" "0000350619" "0" "70" "17" "40474491" "40474491" "subst" "0" "02327" "STAT3_000044" "g.40474491A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42322473A>G" "" "likely pathogenic" "" "0000350642" "0" "70" "17" "40469207" "40469207" "subst" "0" "02327" "STAT3_000042" "g.40469207C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42317189C>T" "" "likely pathogenic" "" "0000561478" "0" "50" "17" "40474319" "40474319" "subst" "7.30947E-5" "01804" "STAT3_000053" "g.40474319A>T" "" "" "" "STAT3(NM_003150.3):c.2082T>A (p.(His694Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42322301A>T" "" "VUS" "" "0000561479" "0" "50" "17" "40478138" "40478138" "subst" "4.46708E-5" "01804" "STAT3_000054" "g.40478138A>G" "" "" "" "STAT3(NM_003150.3):c.1361T>C (p.(Leu454Pro)), STAT3(NM_139276.2):c.1361T>C (p.L454P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42326120A>G" "" "VUS" "" "0000561480" "0" "30" "17" "40481493" "40481493" "subst" "5.28E-5" "02326" "STAT3_000055" "g.40481493G>C" "" "" "" "STAT3(NM_139276.2):c.1234-18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42329475G>C" "" "likely benign" "" "0000561481" "0" "30" "17" "40481662" "40481662" "subst" "0.00023148" "01943" "STAT3_000056" "g.40481662G>C" "" "" "" "STAT3(NM_139276.2):c.1143C>G (p.S381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42329644G>C" "" "likely benign" "" "0000561482" "0" "30" "17" "40481662" "40481662" "subst" "0.00023148" "02326" "STAT3_000056" "g.40481662G>C" "" "" "" "STAT3(NM_139276.2):c.1143C>G (p.S381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42329644G>C" "" "likely benign" "" "0000561483" "0" "90" "17" "40489548" "40489549" "del" "0" "01943" "STAT3_000057" "g.40489548_40489549del" "" "" "" "STAT3(NM_139276.2):c.704_705delTC (p.L235Hfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42337530_42337531del" "" "pathogenic" "" "0000561484" "0" "30" "17" "40489879" "40489879" "subst" "0.000378686" "01943" "STAT3_000058" "g.40489879C>T" "" "" "" "STAT3(NM_139276.2):c.551-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42337861C>T" "" "likely benign" "" "0000561485" "0" "30" "17" "40491427" "40491427" "subst" "0.000373683" "01804" "STAT3_000059" "g.40491427G>C" "" "" "" "STAT3(NM_003150.3):c.373C>G (p.(Gln125Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42339409G>C" "" "likely benign" "" "0000616547" "0" "50" "17" "40477060" "40477060" "subst" "0" "01943" "STAT3_000061" "g.40477060A>G" "" "" "" "STAT3(NM_139276.2):c.1385T>C (p.V462A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42325042A>G" "" "VUS" "" "0000616548" "0" "50" "17" "40478138" "40478138" "subst" "4.46708E-5" "01943" "STAT3_000054" "g.40478138A>G" "" "" "" "STAT3(NM_003150.3):c.1361T>C (p.(Leu454Pro)), STAT3(NM_139276.2):c.1361T>C (p.L454P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42326120A>G" "" "VUS" "" "0000616549" "0" "50" "17" "40481762" "40481762" "subst" "0" "01943" "STAT3_000062" "g.40481762T>C" "" "" "" "STAT3(NM_139276.2):c.1139+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42329744T>C" "" "VUS" "" "0000680858" "0" "30" "17" "40481446" "40481446" "subst" "3.2487E-5" "02326" "STAT3_000063" "g.40481446C>T" "" "" "" "STAT3(NM_139276.2):c.1263G>A (p.G421=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680859" "0" "30" "17" "40481472" "40481472" "subst" "9.74793E-5" "02326" "STAT3_000064" "g.40481472G>A" "" "" "" "STAT3(NM_139276.2):c.1237C>T (p.L413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726353" "0" "30" "17" "40469202" "40469202" "subst" "0" "01943" "STAT3_000065" "g.40469202T>G" "" "" "" "STAT3(NM_139276.2):c.2142A>C (p.T714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726354" "0" "30" "17" "40476723" "40476723" "subst" "0" "01943" "STAT3_000066" "g.40476723G>A" "" "" "" "STAT3(NM_139276.2):c.1600+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726355" "0" "30" "17" "40485684" "40485684" "subst" "0" "01804" "STAT3_000067" "g.40485684G>A" "" "" "" "STAT3(NM_003150.3):c.1049+7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000735504" "0" "70" "17" "40498658" "40498658" "subst" "0" "04011" "STAT3_000068" "g.40498658A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000807959" "0" "90" "17" "40469212" "40469212" "subst" "0" "02327" "STAT3_000069" "g.40469212A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807960" "0" "50" "17" "40474402" "40474402" "subst" "0" "01943" "STAT3_000070" "g.40474402C>A" "" "" "" "STAT3(NM_139276.2):c.1999G>T (p.V667L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854885" "0" "90" "17" "40468917" "40468917" "subst" "0" "02326" "STAT3_000071" "g.40468917G>A" "" "" "" "STAT3(NM_139276.2):c.2147C>T (p.T716M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854886" "0" "90" "17" "40474492" "40474492" "subst" "0" "02327" "STAT3_000073" "g.40474492C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865239" "0" "30" "17" "40474306" "40474306" "subst" "0" "01943" "STAT3_000072" "g.40474306G>C" "" "" "" "STAT3(NM_139276.2):c.2095C>G (p.P699A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865240" "0" "50" "17" "40483518" "40483518" "subst" "0" "02327" "STAT3_000074" "g.40483518G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865241" "0" "50" "17" "40491367" "40491367" "subst" "0" "02327" "STAT3_000075" "g.40491367C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865242" "0" "30" "17" "40491395" "40491395" "subst" "0.000134026" "01943" "STAT3_000076" "g.40491395G>A" "" "" "" "STAT3(NM_139276.2):c.405C>T (p.A135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893559" "0" "30" "17" "40467766" "40467766" "subst" "0" "02326" "STAT3_000077" "g.40467766C>T" "" "" "" "STAT3(NM_139276.2):c.2310G>A (p.M770I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893560" "0" "30" "17" "40467795" "40467795" "subst" "0.000125924" "02326" "STAT3_000078" "g.40467795A>G" "" "" "" "STAT3(NM_139276.2):c.2281T>C (p.L761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893561" "0" "30" "17" "40468901" "40468901" "subst" "0" "02326" "STAT3_000079" "g.40468901G>A" "" "" "" "STAT3(NM_139276.2):c.2163C>T (p.T721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893562" "0" "90" "17" "40481639" "40481639" "subst" "0" "02329" "STAT3_000080" "g.40481639G>A" "" "" "" "STAT3(NM_139276.3):c.1166C>T (p.T389I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893563" "0" "30" "17" "40485731" "40485731" "subst" "0" "01804" "STAT3_000081" "g.40485731G>C" "" "" "" "STAT3(NM_003150.3):c.1009C>G (p.(Leu337Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893565" "0" "30" "17" "40490806" "40490806" "subst" "0" "01804" "STAT3_000083" "g.40490806C>T" "" "" "" "STAT3(NM_003150.3):c.493G>A (p.(Val165Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914811" "0" "30" "17" "40491395" "40491395" "subst" "0.000134026" "02326" "STAT3_000076" "g.40491395G>A" "" "" "" "STAT3(NM_139276.2):c.405C>T (p.A135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920270" "1" "90" "17" "40478190" "40478190" "subst" "0" "00006" "STAT3_000084" "g.40478190G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.42326172G>A" "" "pathogenic" "ACMG" "0000920276" "11" "90" "17" "40485708" "40485708" "subst" "0" "00006" "STAT3_000086" "g.40485708C>G" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "gain of function variant" "Germline" "" "" "0" "" "" "g.42333690C>G" "" "pathogenic" "ACMG" "0000920303" "1" "90" "17" "40481466" "40481466" "subst" "0" "00006" "STAT3_000085" "g.40481466C>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "gain of function variant" "Germline" "yes" "" "0" "" "" "g.42329448C>T" "" "pathogenic" "ACMG" "0000926474" "0" "30" "17" "40475042" "40475042" "subst" "0" "02326" "STAT3_000087" "g.40475042C>G" "" "" "" "STAT3(NM_139276.2):c.1868G>C (p.W623S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926475" "0" "30" "17" "40491403" "40491403" "subst" "0" "02326" "STAT3_000088" "g.40491403T>A" "" "" "" "STAT3(NM_139276.2):c.397A>T (p.T133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930759" "0" "30" "17" "40489879" "40489879" "subst" "0.000378686" "02326" "STAT3_000058" "g.40489879C>T" "" "" "" "STAT3(NM_139276.2):c.551-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930760" "0" "30" "17" "40498722" "40498722" "subst" "2.84368E-5" "02326" "STAT3_000089" "g.40498722C>T" "" "" "" "STAT3(NM_139276.2):c.138G>A (p.A46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950872" "0" "50" "17" "40485728" "40485728" "subst" "1.21857E-5" "02325" "STAT3_000090" "g.40485728C>T" "" "" "" "STAT3(NM_139276.3):c.1012G>A (p.V338I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950873" "0" "50" "17" "40489785" "40489785" "subst" "0" "02325" "STAT3_000091" "g.40489785C>T" "" "" "" "STAT3(NM_139276.3):c.641G>A (p.R214Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950874" "0" "50" "17" "40500559" "40500559" "subst" "0" "02325" "STAT3_000092" "g.40500559T>A" "" "" "" "STAT3(NM_139276.3):c.-23-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982488" "0" "50" "17" "40489839" "40489839" "subst" "4.06438E-6" "01804" "STAT3_000093" "g.40489839G>T" "" "" "" "STAT3(NM_139276.3):c.587C>A (p.(Thr196Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003222" "0" "50" "17" "40475157" "40475157" "subst" "0" "01804" "STAT3_000094" "g.40475157T>G" "" "" "" "STAT3(NM_139276.2):c.1753A>C (p.(Ile585Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003223" "0" "50" "17" "40489514" "40489514" "subst" "0" "01804" "STAT3_000095" "g.40489514G>A" "" "" "" "STAT3(NM_139276.2):c.736C>T (p.(Arg246Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003224" "0" "50" "17" "40497611" "40497611" "subst" "4.22661E-6" "01804" "STAT3_000096" "g.40497611G>A" "" "" "" "STAT3(NM_139276.2):c.338C>T (p.(Ser113Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026892" "0" "30" "17" "40476837" "40476837" "subst" "0.000247704" "02325" "STAT3_000097" "g.40476837T>C" "" "" "" "STAT3(NM_139276.3):c.1492A>G (p.I498V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041838" "0" "30" "17" "40476977" "40476977" "subst" "0" "01804" "STAT3_000098" "g.40476977T>C" "" "" "" "STAT3(NM_139276.3):c.1464+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041839" "0" "30" "17" "40502961" "40502961" "subst" "0" "01804" "STAT3_000099" "g.40502961C>T" "" "" "" "STAT3(NM_139276.3):c.-23-2404G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes STAT3 ## Count = 132 "{{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}}" "0000128883" "00020438" "50" "1982" "0" "1982" "0" "c.1982A>T" "r.(?)" "p.(Asp661Val)" "21" "0000128884" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Asp661Tyr)" "21" "0000128885" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>C" "r.(?)" "p.(Asp661His)" "21" "0000128886" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000128887" "00020438" "50" "1940" "0" "1940" "0" "c.1940A>T" "r.(?)" "p.(Asn647Ile)" "" "0000128888" "00020438" "50" "1974" "0" "1974" "0" "c.1974G>T" "r.(?)" "p.(Lys658Asn)" "" "0000128889" "00020438" "50" "1971" "0" "1973" "0" "c.1971_1973dup" "r.(?)" "p.(Tyr657_Lys658insAsn)" "" "0000128890" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000128891" "00020438" "50" "1969" "0" "1970" "0" "c.1969_1970insTTT" "r.(?)" "p.(Gly656_Tyr657insPhe)" "" "0000128892" "00020438" "50" "1969" "0" "1980" "0" "c.1969_1980dup" "r.(?)" "p.(Tyr657_Met660dup)" "" "0000128893" "00020438" "50" "1972" "0" "1974" "0" "c.1972_1974delinsTAT" "r.(?)" "p.(Lys658Tyr)" "" "0000128894" "00020438" "50" "1970" "0" "1970" "0" "c.1970A>C" "r.(?)" "p.(Tyr657Ser)" "21" "0000128895" "00020438" "50" "1858" "0" "1858" "0" "c.1858A>G" "r.(?)" "p.(Thr620Ala)" "" "0000128896" "00020438" "50" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Ser636Phe)" "" "0000128897" "00020438" "50" "1913" "0" "1913" "0" "c.1913A>G" "r.(?)" "p.(Glu638Gly)" "" "0000128898" "00020438" "90" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Ser611Asn)" "" "0000128899" "00020438" "90" "1861" "0" "1861" "0" "c.1861T>G" "r.(?)" "p.(Phe621Val)" "" "0000128900" "00020438" "90" "1865" "0" "1865" "0" "c.1865C>T" "r.(?)" "p.(Thr622Ile)" "" "0000128901" "00020438" "90" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Met)" "" "0000128902" "00020438" "90" "1909" "0" "1909" "0" "c.1909G>T" "r.(?)" "p.(Val637Leu)" "" "0000128903" "00020438" "90" "1915" "0" "1915" "0" "c.1915C>G" "r.(?)" "p.(Pro639Ala)" "" "0000128904" "00020438" "90" "1931" "0" "1933" "0" "c.1931_1933del" "r.(?)" "p.(Gln644del)" "" "0000128905" "00020438" "90" "1939" "0" "1939" "0" "c.1939A>G" "r.(?)" "p.(Asn647Asp)" "" "0000128906" "00020438" "90" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Glu652Lys)" "" "0000128907" "00020438" "90" "1970" "0" "1970" "0" "c.1970A>G" "r.(?)" "p.(Tyr657Cys)" "" "0000128908" "00020438" "50" "1938" "0" "1938" "0" "c.1938C>G" "r.(?)" "p.(Asn646Lys)" "" "0000128909" "00020438" "50" "1974" "0" "1974" "0" "c.1974G>C" "r.(?)" "p.(Lys658Asn)" "" "0000128910" "00020438" "50" "1842" "0" "1842" "0" "c.1842C>A" "r.(?)" "p.(Ser614Arg)" "" "0000128911" "00020438" "50" "1852" "0" "1852" "0" "c.1852G>C" "r.(?)" "p.(Gly618Arg)" "" "0000128912" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000128913" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000128914" "00020438" "50" "1940" "0" "1940" "0" "c.1940A>T" "r.(?)" "p.(Asn647Ile)" "" "0000128915" "00020438" "50" "1940" "0" "1940" "0" "c.1940A>T" "r.(?)" "p.(Asn647Ile)" "" "0000128916" "00020438" "50" "1974" "0" "1974" "0" "c.1974G>T" "r.(?)" "p.(Lys658Asn)" "" "0000128917" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Asp661Tyr)" "" "0000128918" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Asp661Tyr)" "" "0000128919" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Asp661Asn)" "" "0000128920" "00020438" "50" "1982" "0" "1982" "0" "c.1982A>T" "r.(?)" "p.(Asp661Val)" "" "0000132598" "00020438" "50" "1982" "0" "1982" "0" "c.1982A>T" "r.(?)" "p.(Asp661Val)" "21" "0000132599" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Asp661Tyr)" "21" "0000132600" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>C" "r.(?)" "p.(Asp661His)" "21" "0000132601" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000132602" "00020438" "50" "1940" "0" "1940" "0" "c.1940A>T" "r.(?)" "p.(Asn647Ile)" "" "0000132604" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000132605" "00020438" "50" "1969" "0" "1970" "0" "c.1969_1970insTTT" "r.(?)" "p.(Gly656_Tyr657insPhe)" "" "0000132606" "00020438" "50" "1969" "0" "1980" "0" "c.1969_1980dup" "r.(?)" "p.(Tyr657_Met660dup)" "" "0000132607" "00020438" "50" "1972" "0" "1972" "0" "c.1972A>T; c.1974G>T" "r.(?)" "p.(Lys658Tyr)" "" "0000132608" "00020438" "50" "1970" "0" "1970" "0" "c.1970A>C" "r.(?)" "p.(Tyr657Ser)" "21" "0000132609" "00020438" "50" "1858" "0" "1858" "0" "c.1858A>G" "r.(?)" "p.(Thr620Ala)" "" "0000132610" "00020438" "50" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Ser636Phe)" "" "0000132611" "00020438" "50" "1913" "0" "1913" "0" "c.1913A>G" "r.(?)" "p.(Glu638Gly)" "" "0000132622" "00020438" "50" "1938" "0" "1938" "0" "c.1938C>G" "r.(?)" "p.(Asn646Lys)" "" "0000132623" "00020438" "50" "1974" "0" "1974" "0" "c.1974G>C" "r.(?)" "p.(Lys658Asn)" "" "0000132624" "00020438" "50" "1842" "0" "1842" "0" "c.1842C>A" "r.(?)" "p.(Ser614Arg)" "" "0000132625" "00020438" "50" "1852" "0" "1852" "0" "c.1852G>C" "r.(?)" "p.(Gly618Arg)" "" "0000132626" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000132627" "00020438" "50" "1919" "0" "1919" "0" "c.1919A>T" "r.(?)" "p.(Tyr640Phe)" "" "0000132628" "00020438" "50" "1940" "0" "1940" "0" "c.1940A>T" "r.(?)" "p.(Asn647Ile)" "" "0000132629" "00020438" "50" "1940" "0" "1940" "0" "c.1940A>T" "r.(?)" "p.(Asn647Ile)" "" "0000132630" "00020438" "50" "1974" "0" "1974" "0" "c.1974G>T" "r.(?)" "p.(Lys658Asn)" "" "0000132631" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Asp661Tyr)" "" "0000132632" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>T" "r.(?)" "p.(Asp661Tyr)" "" "0000132633" "00020438" "50" "1981" "0" "1981" "0" "c.1981G>A" "r.(?)" "p.(Asp661Asn)" "" "0000132634" "00020438" "50" "1982" "0" "1982" "0" "c.1982A>T" "r.(?)" "p.(Asp661Val)" "" "0000169294" "00020438" "00" "1181" "0" "1181" "0" "c.1181T>C" "r.(?)" "p.(Met394Thr)" "" "0000314168" "00020438" "70" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Tyr360Cys)" "" "0000314169" "00020438" "30" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(Thr443=)" "" "0000314170" "00020438" "30" "1601" "-8" "1601" "-8" "c.1601-8dup" "r.(=)" "p.(=)" "" "0000314171" "00020438" "90" "1909" "0" "1909" "0" "c.1909G>A" "r.(?)" "p.(Val637Met)" "" "0000314172" "00020438" "30" "551" "-37" "551" "-18" "c.551-37_551-18del" "r.(=)" "p.(=)" "" "0000314173" "00020438" "30" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.(Ala209=)" "" "0000315789" "00020438" "30" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(Thr443=)" "" "0000315790" "00020438" "50" "2103" "0" "2103" "0" "c.2103C>T" "r.(?)" "p.(Ser701=)" "" "0000315791" "00020438" "10" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Asp237=)" "" "0000337978" "00020438" "10" "1233" "43" "1233" "43" "c.1233+43C>G" "r.(=)" "p.(=)" "" "0000337979" "00020438" "90" "1110" "-2" "1110" "-2" "c.1110-2A>G" "r.spl?" "p.?" "" "0000342777" "00020438" "90" "1145" "0" "1145" "0" "c.1145G>A" "r.(?)" "p.(Arg382Gln)" "" "0000342778" "00020438" "90" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Arg382Trp)" "" "0000348356" "00020438" "50" "890" "0" "890" "0" "c.890C>T" "r.(?)" "p.(Pro297Leu)" "" "0000349038" "00020438" "50" "1427" "0" "1427" "0" "c.1427C>G" "r.(?)" "p.(Ser476Cys)" "" "0000350179" "00020438" "90" "2113" "0" "2113" "0" "c.2113T>A" "r.(?)" "p.(Tyr705Asn)" "" "0000350619" "00020438" "70" "1910" "0" "1910" "0" "c.1910T>C" "r.(?)" "p.(Val637Ala)" "" "0000350642" "00020438" "70" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Val713Met)" "" "0000561478" "00020438" "50" "2082" "0" "2082" "0" "c.2082T>A" "r.(?)" "p.(His694Gln)" "" "0000561479" "00020438" "50" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Leu454Pro)" "" "0000561480" "00020438" "30" "1234" "-18" "1234" "-18" "c.1234-18C>G" "r.(=)" "p.(=)" "" "0000561481" "00020438" "30" "1143" "0" "1143" "0" "c.1143C>G" "r.(?)" "p.(Ser381=)" "" "0000561482" "00020438" "30" "1143" "0" "1143" "0" "c.1143C>G" "r.(?)" "p.(Ser381=)" "" "0000561483" "00020438" "90" "704" "0" "705" "0" "c.704_705del" "r.(?)" "p.(Leu235HisfsTer7)" "" "0000561484" "00020438" "30" "551" "-4" "551" "-4" "c.551-4G>A" "r.spl?" "p.?" "" "0000561485" "00020438" "30" "373" "0" "373" "0" "c.373C>G" "r.(?)" "p.(Gln125Glu)" "" "0000616547" "00020438" "50" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Val462Ala)" "" "0000616548" "00020438" "50" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Leu454Pro)" "" "0000616549" "00020438" "50" "1139" "3" "1139" "3" "c.1139+3A>G" "r.spl?" "p.?" "" "0000680858" "00020438" "30" "1263" "0" "1263" "0" "c.1263G>A" "r.(?)" "p.(Gly421=)" "" "0000680859" "00020438" "30" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Leu413=)" "" "0000726353" "00020438" "30" "2142" "0" "2142" "0" "c.2142A>C" "r.(?)" "p.(Thr714=)" "" "0000726354" "00020438" "30" "1600" "6" "1600" "6" "c.1600+6C>T" "r.(=)" "p.(=)" "" "0000726355" "00020438" "30" "1049" "7" "1049" "7" "c.1049+7C>T" "r.(=)" "p.(=)" "" "0000735504" "00020438" "50" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Tyr68His)" "" "0000807959" "00020438" "90" "2132" "0" "2132" "0" "c.2132T>C" "r.(?)" "p.(Ile711Thr)" "" "0000807960" "00020438" "50" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Val667Leu)" "" "0000854885" "00020438" "90" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "" "0000854886" "00020438" "90" "1909" "0" "1909" "0" "c.1909G>C" "r.(?)" "p.(Val637Leu)" "" "0000865239" "00020438" "30" "2095" "0" "2095" "0" "c.2095C>G" "r.(?)" "p.(Pro699Ala)" "" "0000865240" "00020438" "50" "1081" "0" "1081" "0" "c.1081C>G" "r.(?)" "p.(Gln361Glu)" "" "0000865241" "00020438" "50" "433" "0" "433" "0" "c.433G>C" "r.(?)" "p.(Glu145Gln)" "" "0000865242" "00020438" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Ala135=)" "" "0000893559" "00020438" "30" "2310" "0" "2310" "0" "c.2310G>A" "r.(?)" "p.(Met770Ile)" "" "0000893560" "00020438" "30" "2281" "0" "2281" "0" "c.2281T>C" "r.(?)" "p.(Leu761=)" "" "0000893561" "00020438" "30" "2163" "0" "2163" "0" "c.2163C>T" "r.(?)" "p.(Thr721=)" "" "0000893562" "00020438" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Thr389Ile)" "" "0000893563" "00020438" "30" "1009" "0" "1009" "0" "c.1009C>G" "r.(?)" "p.(Leu337Val)" "" "0000893565" "00020438" "30" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Val165Ile)" "" "0000914811" "00020438" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Ala135=)" "" "0000920270" "00020438" "90" "1309" "0" "1309" "0" "c.1309C>T" "r.(?)" "p.(His437Tyr)" "15" "0000920276" "00020438" "90" "1032" "0" "1032" "0" "c.1032G>C" "r.(?)" "p.(Gln344His)" "10" "0000920303" "00020438" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Glu415Lys)" "14" "0000926474" "00020438" "30" "1868" "0" "1868" "0" "c.1868G>C" "r.(?)" "p.(Trp623Ser)" "" "0000926475" "00020438" "30" "397" "0" "397" "0" "c.397A>T" "r.(?)" "p.(Thr133Ser)" "" "0000930759" "00020438" "30" "551" "-4" "551" "-4" "c.551-4G>A" "r.spl?" "p.?" "" "0000930760" "00020438" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(=)" "" "0000950872" "00020438" "50" "1012" "0" "1012" "0" "c.1012G>A" "r.(?)" "p.(Val338Ile)" "" "0000950873" "00020438" "50" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Arg214Gln)" "" "0000950874" "00020438" "50" "-23" "-2" "-23" "-2" "c.-23-2A>T" "r.spl?" "p.?" "" "0000982488" "00020438" "50" "587" "0" "587" "0" "c.587C>A" "r.(?)" "p.(Thr196Asn)" "" "0001003222" "00020438" "50" "1753" "0" "1753" "0" "c.1753A>C" "r.(?)" "p.(Ile585Leu)" "" "0001003223" "00020438" "50" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246Trp)" "" "0001003224" "00020438" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Ser113Leu)" "" "0001026892" "00020438" "30" "1492" "0" "1492" "0" "c.1492A>G" "r.(?)" "p.(Ile498Val)" "" "0001041838" "00020438" "30" "1464" "4" "1464" "4" "c.1464+4A>G" "r.spl?" "p.?" "" "0001041839" "00020438" "30" "-23" "-2404" "-23" "-2404" "c.-23-2404G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 69 "{{screeningid}}" "{{variantid}}" "0000080005" "0000128883" "0000080006" "0000128884" "0000080007" "0000128885" "0000080008" "0000128886" "0000080009" "0000128887" "0000080010" "0000128888" "0000080011" "0000128889" "0000080012" "0000128890" "0000080013" "0000128891" "0000080014" "0000128892" "0000080015" "0000128893" "0000080016" "0000128894" "0000080017" "0000128895" "0000080018" "0000128896" "0000080019" "0000128897" "0000080020" "0000128898" "0000080021" "0000128899" "0000080022" "0000128900" "0000080023" "0000128901" "0000080024" "0000128902" "0000080025" "0000128903" "0000080026" "0000128904" "0000080027" "0000128905" "0000080028" "0000128906" "0000080029" "0000128907" "0000080031" "0000128908" "0000080032" "0000128909" "0000080033" "0000128910" "0000080034" "0000128911" "0000080035" "0000128912" "0000080036" "0000128913" "0000080037" "0000128914" "0000080038" "0000128915" "0000080039" "0000128916" "0000080040" "0000128917" "0000080041" "0000128918" "0000080042" "0000128919" "0000080043" "0000128920" "0000081895" "0000132598" "0000081896" "0000132599" "0000081897" "0000132600" "0000081898" "0000132601" "0000081899" "0000132602" "0000081901" "0000132604" "0000081902" "0000132605" "0000081903" "0000132606" "0000081904" "0000132607" "0000081905" "0000132608" "0000081906" "0000132609" "0000081907" "0000132610" "0000081908" "0000132611" "0000081919" "0000132622" "0000081920" "0000132623" "0000081921" "0000132624" "0000081922" "0000132625" "0000081923" "0000132626" "0000081924" "0000132627" "0000081925" "0000132628" "0000081926" "0000132629" "0000081927" "0000132630" "0000081928" "0000132631" "0000081929" "0000132632" "0000081930" "0000132633" "0000081931" "0000132634" "0000104471" "0000169294" "0000336263" "0000735504" "0000434515" "0000920270" "0000434521" "0000920276" "0000434550" "0000920303"