### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JAK1) # 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}}" "JAK1" "Janus kinase 1" "1" "p32.3-p31.3" "unknown" "NG_023402.2" "UD_132085342970" "" "https://www.LOVD.nl/JAK1" "" "1" "6190" "3716" "147795" "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/JAK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-08-05 09:54:49" "00000" "2025-11-01 13:22:20" ## 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}}" "00010250" "JAK1" "Janus kinase 1" "001" "NM_002227.2" "" "NP_002218.2" "" "" "" "-249" "4804" "3465" "65432187" "65298906" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00908" "AML" "leukemia, myeloid, acute (AML)" "" "601626" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" "05468" "uveitis" "uveitis" "" "" "" "" "" "00006" "2018-08-22 09:47:04" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00079885" "" "" "" "1" "" "01742" "{PMID:Tomasson 2008:18270328}" "" "?" "" "" "" "0" "" "" "" "" "00180680" "" "" "" "440" "" "02555" "{PMID:Yang 2013:23611997}" "Chinese cohort" "F;M" "" "China" "" "0" "{DB:Uveo2623?snp=rs310236&t=1535722763}" "" "Chinese" "" "00180681" "" "" "" "454" "" "02555" "{PMID:Yang 2013:23611997}" "Chinese Han cohort" "F;M" "" "China" "" "0" "{DB:Uveo3909?snp=rs310230&t=1535722613}" "" "Chinese Han" "" "00180682" "" "" "" "158" "" "02555" "{PMID:Yang 2013:23674219}" "Chinese Han cohort" "F;M" "" "China" "" "0" "{DB:Uveo3174?snp=rs2780815&t=1535702975}" "" "Chinese Han" "" "00180683" "" "" "" "485" "" "02555" "{PMID:Yang 2013:23674219}" "Chinese Han cohort" "F;M" "" "China" "" "0" "{DB:Uveo3175?snp=rs310241&t=1535702988}" "" "Chinese Han" "" "00180684" "" "" "" "485" "" "02555" "{PMID:Yang 2013:23674219}" "Chinese cohort" "F;M" "" "China" "" "0" "{DB:Uveo3175?snp=rs310241&t=1535722887}" "" "Chinese" "" "00180685" "" "" "" "489" "" "02555" "{PMID:Yang 2013:23674219}" "Chinese Han cohort" "F;M" "" "China" "" "0" "{DB:Uveo3176?snp=rs3790532&t=1535703018}" "" "Chinese Han" "" "00289907" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304214" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00079885" "00908" "00180680" "05468" "00180681" "05468" "00180682" "05467" "00180683" "05467" "00180684" "05468" "00180685" "05467" "00289907" "00198" "00304214" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00908, 05467, 05468 ## Count = 7 "{{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}}" "0000061387" "00908" "00079885" "01742" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143075" "05468" "00180680" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Vogt–Koyanagi–Harada syndrome (VKH)" "uveitis" "" "0000143076" "05468" "00180681" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Vogt–Koyanagi–Harada syndrome (VKH)" "uveitis" "" "0000143077" "05467" "00180682" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000143078" "05467" "00180683" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000143079" "05468" "00180684" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Vogt–Koyanagi–Harada syndrome (VKH)" "uveitis" "" "0000143080" "05467" "00180685" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000079967" "00079885" "1" "01742" "01742" "2016-08-26 10:52:03" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000181617" "00180680" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181618" "00180681" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181619" "00180682" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181620" "00180683" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181621" "00180684" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181622" "00180685" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000291075" "00289907" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305343" "00304214" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000079967" "JAK1" "0000181617" "JAK1" "0000181618" "JAK1" "0000181619" "JAK1" "0000181620" "JAK1" "0000181621" "JAK1" "0000181622" "JAK1" ## 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 = 38 "{{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}}" "0000128842" "0" "50" "1" "65323364" "65323364" "subst" "0" "01742" "JAK1_000001" "g.65323364G>C" "" "{PMID:Tomasson 2008:18270328}" "" "" "" "Somatic" "" "" "0" "" "" "g.64857681G>C" "" "VUS" "" "0000405313" "0" "50" "1" "65333857" "65333857" "subst" "0" "02555" "JAK1_000005" "g.65333857G>C" "440/1474 cases" "{PMID:Yang 2013:23611997}" "" "" "{DB:Uveo2623?snp=rs310236&t=1535722763}" "Germline" "" "rs310236" "0" "" "" "g.64868174G>C" "" "VUS" "" "0000405314" "0" "50" "1" "65341002" "65341002" "subst" "0" "02555" "JAK1_000006" "g.65341002G>A" "454/1474 cases" "{PMID:Yang 2013:23611997}" "" "" "{DB:Uveo3909?snp=rs310230&t=1535722613}" "Germline" "" "rs310230" "0" "" "" "g.64875319G>A" "" "VUS" "" "0000405315" "0" "50" "1" "65301611" "65301611" "subst" "0" "02555" "JAK1_000002" "g.65301611T>C" "158/1476 cases" "{PMID:Yang 2013:23674219}" "" "" "{DB:Uveo3174?snp=rs2780815&t=1535702975}" "Germline" "" "rs2780815" "0" "" "" "g.64835928T>C" "" "VUS" "" "0000405316" "0" "50" "1" "65303338" "65303338" "subst" "0" "02555" "JAK1_000003" "g.65303338A>G" "485/1476 cases" "{PMID:Yang 2013:23674219}" "" "" "{DB:Uveo3175?snp=rs310241&t=1535702988}" "Germline" "" "rs310241" "0" "" "" "g.64837655A>G" "" "VUS" "" "0000405317" "0" "50" "1" "65303338" "65303338" "subst" "0" "02555" "JAK1_000003" "g.65303338A>G" "485/1474 cases" "{PMID:Yang 2013:23674219}" "" "" "{DB:Uveo3175?snp=rs310241&t=1535722887}" "Germline" "" "rs310241" "0" "" "" "g.64837655A>G" "" "VUS" "" "0000405318" "0" "50" "1" "65303390" "65303390" "subst" "0" "02555" "JAK1_000004" "g.65303390G>A" "489/1476 cases" "{PMID:Yang 2013:23674219}" "" "" "{DB:Uveo3176?snp=rs3790532&t=1535703018}" "Germline" "" "rs3790532" "0" "" "" "g.64837707G>A" "" "VUS" "" "0000508210" "0" "30" "1" "65301774" "65301774" "subst" "0.000334574" "02326" "JAK1_000008" "g.65301774G>A" "" "" "" "JAK1(NM_001321853.1):c.3258+7C>T, JAK1(NM_001321853.2):c.3258+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64836091G>A" "" "likely benign" "" "0000508214" "0" "30" "1" "65306952" "65306952" "subst" "1.21837E-5" "02326" "JAK1_000009" "g.65306952T>C" "" "" "" "JAK1(NM_001321853.2):c.2625A>G (p.L875=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64841269T>C" "" "likely benign" "" "0000508221" "0" "30" "1" "65334974" "65334974" "subst" "6.97631E-5" "02326" "JAK1_000010" "g.65334974C>T" "" "" "" "JAK1(NM_001321853.2):c.647+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64869291C>T" "" "likely benign" "" "0000508223" "0" "30" "1" "65339122" "65339122" "subst" "0.00184941" "01943" "JAK1_000011" "g.65339122G>A" "" "" "" "JAK1(NM_001321853.1):c.414C>T (p.Y138=), JAK1(NM_001321853.2):c.414C>T (p.Y138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64873439G>A" "" "likely benign" "" "0000508224" "0" "30" "1" "65339122" "65339122" "subst" "0.00184941" "02326" "JAK1_000011" "g.65339122G>A" "" "" "" "JAK1(NM_001321853.1):c.414C>T (p.Y138=), JAK1(NM_001321853.2):c.414C>T (p.Y138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64873439G>A" "" "likely benign" "" "0000605901" "0" "30" "1" "65304232" "65304232" "subst" "7.31475E-5" "01943" "JAK1_000012" "g.65304232C>T" "" "" "" "JAK1(NM_001321853.1):c.2883G>A (p.S961=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64838549C>T" "" "likely benign" "" "0000605908" "0" "30" "1" "65330499" "65330499" "subst" "0.000211611" "01943" "JAK1_000013" "g.65330499T>C" "" "" "" "JAK1(NM_001321853.1):c.1147A>G (p.S383G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64864816T>C" "" "likely benign" "" "0000605910" "0" "30" "1" "65332750" "65332750" "subst" "2.84463E-5" "01943" "JAK1_000014" "g.65332750C>T" "" "" "" "JAK1(NM_001321853.1):c.789G>A (p.T263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64867067C>T" "" "likely benign" "" "0000605911" "0" "50" "1" "65348981" "65348981" "subst" "0.000709706" "01943" "JAK1_000015" "g.65348981T>C" "" "" "" "JAK1(NM_001321853.1):c.184A>G (p.I62V), JAK1(NM_002227.4):c.184A>G (p.I62V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64883298T>C" "" "VUS" "" "0000647764" "1" "50" "1" "65312368" "65312368" "subst" "0.00082912" "03575" "JAK1_000016" "g.65312368C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 10 heterozygous; {DB:CLININrs149968614}" "Germline" "" "rs149968614" "0" "" "" "g.64846685C>T" "" "VUS" "" "0000654100" "0" "50" "1" "65325902" "65325902" "subst" "8.14611E-6" "02325" "JAK1_000017" "g.65325902G>A" "" "" "" "JAK1(NM_002227.4):c.1220C>T (p.S407F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64860219G>A" "" "VUS" "" "0000669031" "3" "50" "1" "65312368" "65312368" "subst" "0.00082912" "03575" "JAK1_000016" "g.65312368C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 homozygous; {DB:CLININrs149968614}" "Germline" "" "rs149968614" "0" "" "" "g.64846685C>T" "" "VUS" "" "0000675915" "0" "30" "1" "65301774" "65301774" "subst" "0.000334574" "01943" "JAK1_000008" "g.65301774G>A" "" "" "" "JAK1(NM_001321853.1):c.3258+7C>T, JAK1(NM_001321853.2):c.3258+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675916" "0" "30" "1" "65305287" "65305287" "subst" "0.000346173" "01943" "JAK1_000018" "g.65305287G>A" "" "" "" "JAK1(NM_001321853.1):c.2841C>T (p.D947=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688228" "0" "50" "1" "65243311" "65243311" "subst" "0" "01943" "JAK1_000019" "g.65243311G>T" "" "" "" "RAVER2(NM_001366165.1):c.322G>T (p.V108F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688233" "0" "30" "1" "65306948" "65306948" "subst" "0.000154325" "02326" "JAK1_000020" "g.65306948T>G" "" "" "" "JAK1(NM_001321853.2):c.2629A>C (p.R877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717635" "0" "50" "1" "65300247" "65300247" "subst" "0.000571228" "01943" "JAK1_000021" "g.65300247A>G" "" "" "" "JAK1(NM_001321853.1):c.3463T>C (p.*1155Qext*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799493" "0" "30" "1" "65305443" "65305443" "subst" "0" "01943" "JAK1_000022" "g.65305443G>A" "" "" "" "JAK1(NM_001321853.1):c.2685C>T (p.D895=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799495" "0" "30" "1" "65312368" "65312368" "subst" "0.00082912" "01943" "JAK1_000016" "g.65312368C>T" "" "" "" "JAK1(NM_001321853.1):c.1951G>A (p.V651M), JAK1(NM_002227.4):c.1951G>A (p.V651M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799496" "0" "30" "1" "65312368" "65312368" "subst" "0.00082912" "02325" "JAK1_000016" "g.65312368C>T" "" "" "" "JAK1(NM_001321853.1):c.1951G>A (p.V651M), JAK1(NM_002227.4):c.1951G>A (p.V651M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799497" "0" "30" "1" "65348981" "65348981" "subst" "0.000709706" "02326" "JAK1_000015" "g.65348981T>C" "" "" "" "JAK1(NM_001321853.1):c.184A>G (p.I62V), JAK1(NM_002227.4):c.184A>G (p.I62V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848813" "0" "30" "1" "65312428" "65312428" "subst" "8.5905E-5" "01943" "JAK1_000024" "g.65312428G>A" "" "" "" "JAK1(NM_001321853.1):c.1900-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857588" "0" "30" "1" "65307190" "65307190" "subst" "0.00041422" "02326" "JAK1_000023" "g.65307190T>C" "" "" "" "JAK1(NM_002227.4):c.2498A>G (p.N833S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883553" "0" "30" "1" "65330661" "65330661" "subst" "0.000205029" "02326" "JAK1_000025" "g.65330661A>G" "" "" "" "JAK1(NM_002227.4):c.991-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883555" "0" "30" "1" "65335119" "65335119" "subst" "3.25219E-5" "02326" "JAK1_000026" "g.65335119T>C" "" "" "" "JAK1(NM_002227.4):c.522A>G (p.R174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961130" "0" "10" "1" "65301765" "65301765" "subst" "0.00227987" "02326" "JAK1_000027" "g.65301765G>T" "" "" "" "JAK1(NM_002227.4):c.3258+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000961131" "0" "50" "1" "65307155" "65307155" "subst" "8.12203E-6" "02327" "JAK1_000028" "g.65307155T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974082" "0" "30" "1" "65306997" "65306997" "subst" "3.65871E-5" "01804" "JAK1_000029" "g.65306997T>G" "" "" "" "JAK1(NM_002227.4):c.2580A>C (p.(Lys860Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991397" "0" "50" "1" "65344760" "65344760" "subst" "1.6259E-5" "01804" "JAK1_000030" "g.65344760G>A" "" "" "" "JAK1(NM_002227.2):c.277C>T (p.(Arg93Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032160" "0" "50" "1" "65301184" "65301184" "subst" "0" "01804" "JAK1_000031" "g.65301184G>A" "" "" "" "JAK1(NM_002227.4):c.3264C>T (p.(Phe1088=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050136" "0" "50" "1" "65305429" "65305429" "subst" "0" "01804" "JAK1_000032" "g.65305429T>C" "" "" "" "JAK1(NM_002227.4):c.2699A>G (p.(Asn900Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 JAK1 ## Count = 38 "{{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}}" "0000128842" "00010250" "50" "1433" "0" "1433" "0" "c.1433C>G" "r.(?)" "p.(Thr478Ser)" "" "0000405313" "00010250" "00" "648" "-966" "648" "-966" "c.648-966C>G" "r.(=)" "p.(=)" "" "0000405314" "00010250" "00" "330" "-1796" "330" "-1796" "c.330-1796C>T" "r.(=)" "p.(=)" "" "0000405315" "00010250" "00" "3258" "170" "3258" "170" "c.3258+170A>G" "r.(=)" "p.(=)" "" "0000405316" "00010250" "00" "3140" "277" "3140" "277" "c.3140+277T>C" "r.(=)" "p.(=)" "" "0000405317" "00010250" "00" "3140" "277" "3140" "277" "c.3140+277T>C" "r.(=)" "p.(=)" "" "0000405318" "00010250" "00" "3140" "225" "3140" "225" "c.3140+225C>T" "r.(=)" "p.(=)" "" "0000508210" "00010250" "30" "3258" "7" "3258" "7" "c.3258+7C>T" "r.(=)" "p.(=)" "" "0000508214" "00010250" "30" "2625" "0" "2625" "0" "c.2625A>G" "r.(?)" "p.(Leu875=)" "" "0000508221" "00010250" "30" "647" "20" "647" "20" "c.647+20G>A" "r.(=)" "p.(=)" "" "0000508223" "00010250" "30" "414" "0" "414" "0" "c.414C>T" "r.(?)" "p.(Tyr138=)" "" "0000508224" "00010250" "30" "414" "0" "414" "0" "c.414C>T" "r.(?)" "p.(Tyr138=)" "" "0000605901" "00010250" "30" "2883" "0" "2883" "0" "c.2883G>A" "r.(?)" "p.(Ser961=)" "" "0000605908" "00010250" "30" "1147" "0" "1147" "0" "c.1147A>G" "r.(?)" "p.(Ser383Gly)" "" "0000605910" "00010250" "30" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(Thr263=)" "" "0000605911" "00010250" "50" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Ile62Val)" "" "0000647764" "00010250" "50" "1951" "0" "1951" "0" "c.1951G>A" "r.(?)" "p.(Val651Met)" "" "0000654100" "00010250" "50" "1220" "0" "1220" "0" "c.1220C>T" "r.(?)" "p.(Ser407Phe)" "" "0000669031" "00010250" "50" "1951" "0" "1951" "0" "c.1951G>A" "r.(?)" "p.(Val651Met)" "" "0000675915" "00010250" "30" "3258" "7" "3258" "7" "c.3258+7C>T" "r.(=)" "p.(=)" "" "0000675916" "00010250" "30" "2841" "0" "2841" "0" "c.2841C>T" "r.(?)" "p.(Asp947=)" "" "0000688228" "00010250" "50" "60399" "0" "60399" "0" "c.*56934C>A" "r.(=)" "p.(=)" "" "0000688233" "00010250" "30" "2629" "0" "2629" "0" "c.2629A>C" "r.(?)" "p.(Arg877=)" "" "0000717635" "00010250" "50" "3463" "0" "3463" "0" "c.3463T>C" "r.(?)" "p.(*1155Glnext*3)" "" "0000799493" "00010250" "30" "2685" "0" "2685" "0" "c.2685C>T" "r.(?)" "p.(Asp895=)" "" "0000799495" "00010250" "30" "1951" "0" "1951" "0" "c.1951G>A" "r.(?)" "p.(Val651Met)" "" "0000799496" "00010250" "30" "1951" "0" "1951" "0" "c.1951G>A" "r.(?)" "p.(Val651Met)" "" "0000799497" "00010250" "30" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Ile62Val)" "" "0000848813" "00010250" "30" "1900" "-9" "1900" "-9" "c.1900-9C>T" "r.(=)" "p.(=)" "" "0000857588" "00010250" "30" "2498" "0" "2498" "0" "c.2498A>G" "r.(?)" "p.(Asn833Ser)" "" "0000883553" "00010250" "30" "991" "-6" "991" "-6" "c.991-6T>C" "r.(=)" "p.(=)" "" "0000883555" "00010250" "30" "522" "0" "522" "0" "c.522A>G" "r.(?)" "p.(Arg174=)" "" "0000961130" "00010250" "10" "3258" "16" "3258" "16" "c.3258+16C>A" "r.(=)" "p.(=)" "" "0000961131" "00010250" "50" "2533" "0" "2533" "0" "c.2533A>G" "r.(?)" "p.(Ile845Val)" "" "0000974082" "00010250" "30" "2580" "0" "2580" "0" "c.2580A>C" "r.(?)" "p.(Lys860Asn)" "" "0000991397" "00010250" "50" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Cys)" "" "0001032160" "00010250" "50" "3264" "0" "3264" "0" "c.3264C>T" "r.(?)" "p.(=)" "" "0001050136" "00010250" "50" "2699" "0" "2699" "0" "c.2699A>G" "r.(?)" "p.(Asn900Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000079967" "0000128842" "0000181617" "0000405313" "0000181618" "0000405314" "0000181619" "0000405315" "0000181620" "0000405316" "0000181621" "0000405317" "0000181622" "0000405318" "0000291075" "0000647764" "0000305343" "0000669031"