### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JAK3) # 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}}" "JAK3" "Janus kinase 3" "19" "p13-p12" "unknown" "NG_007273.1" "UD_132085271972" "" "https://www.LOVD.nl/JAK3" "" "1" "6193" "3718" "600173" "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/JAK3_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2019-06-06 14:11:08" "00000" "2025-07-08 13:22:38" ## 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}}" "00000013" "JAK3" "Janus kinase 3" "001" "NM_000215.3" "" "NP_000206.2" "" "" "" "-100" "5336" "3375" "17958841" "17935591" "00002" "2012-05-11 13:11:50" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "02315" "SCIDB" "immunodeficiency, severe combined, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative" "AR" "600802" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02806" "IMD104" "immunodeficiency, type 104, severe combined" "AR" "608971" "brain" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-17 16:05:54" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05608" "SCID" "immunodeficiency, severe combined (SCID)" "" "" "" "" "" "00006" "2019-06-06 16:10:12" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "JAK3" "02315" ## Individuals ## Do not remove or alter this header ## ## Count = 53 "{{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}}" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000042" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00150106" "" "" "" "1" "" "02359" "" "" "F" "yes" "Turkey" "00y06m" "0" "" "" "Turkısh" "" "00150107" "" "" "" "1" "" "02359" "" "" "M" "yes" "Turkey" "01y" "0" "" "" "Turkısh" "" "00239198" "" "" "" "1" "" "00006" "{PMID:Bozzi 1998:9753072}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Lebanon" "" "0" "" "" "" "PatAJ" "00239199" "" "" "" "1" "" "00006" "{PMID:Macchi 1995:7659163}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Italy" "" "0" "" "" "" "PatGM" "00239200" "" "" "" "1" "" "00006" "{PMID:Macchi 1995:7659163}, {PMID:Villa 1996:8704236}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Italy" "" "0" "" "" "" "PatCM" "00239201" "" "" "" "1" "" "00006" "{PMID:Russell 1995:7481768}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "PatAP" "00239202" "" "" "" "1" "" "00006" "{PMID:Candotti 1997:9354668}" "" "" "" "Italy" "" "0" "" "" "" "PatLP" "00239203" "" "" "" "1" "" "00006" "{PMID:Candotti 1997:9354668}" "" "" "no" "Italy" "" "0" "" "" "" "PatLE" "00239204" "" "" "" "1" "" "00006" "{PMID:Villa 1996:8704236}" "" "" "yes" "Italy" "" "0" "" "" "" "PatCM" "00239205" "" "" "" "1" "" "00006" "{PMID:Candotti 1997:9354668}" "" "" "yes" "Italy" "" "0" "" "" "" "PatVL" "00239206" "" "" "" "1" "" "00006" "{PMID:Candotti 1997:9354668}" "" "" "yes" "Sweden" "" "0" "" "" "" "PatNK" "00239207" "" "" "" "1" "" "00006" "{PMID:Gregoriou 2008:18845095}" "" "M" "" "Greece" "" "0" "" "" "" "Pat" "00239209" "" "" "" "1" "" "00006" "{PMID:Lee 2010:21184155}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "P21" "00239210" "" "" "" "1" "" "00006" "{PMID:Lee 2010:21184155}" "" "" "" "China" "" "0" "" "" "" "" "00239212" "" "" "" "2" "" "00006" "{PMID:Mella 2001:11668621}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Italy" "" "0" "" "" "" "Pat1/2" "00239213" "" "" "" "1" "" "00006" "{PMID:Mella 2001:11668621}" "" "M" "yes" "" "" "0" "" "" "" "Pat8" "00239214" "" "" "" "1" "" "00006" "{PMID:Mella 2001:11668621}" "" "M" "yes" "" "" "0" "" "" "" "Pat7" "00239215" "" "" "" "1" "" "00006" "{PMID:Mella 2001:11668621}" "" "" "no" "" "" "0" "" "" "" "Pat9" "00239216" "" "" "" "1" "" "00006" "{PMID:Mella 2001:11668621}" "" "M" "no" "" "" "0" "" "" "" "Pat5" "00239217" "" "" "" "1" "" "00006" "{PMID:Mella 2001:11668621}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00239218" "" "" "" "1" "" "00006" "{PMID:Mella 2001:11668621}" "" "F" "no" "" "" "0" "" "" "" "Pat4" "00239219" "" "" "" "1" "" "00006" "{PMID:Mella 2001:11668621}" "" "F" "no" "" "" "0" "" "" "" "Pat3" "00239223" "" "" "" "1" "" "00006" "{PMID:Mjannes 2007:17433830}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Pat" "00239224" "" "" "" "1" "" "00006" "{PMID:Roberts 2004:14615376}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Pat3" "00239225" "" "" "" "1" "" "00006" "{PMID:Roberts 2004:14615376}" "" "" "yes" "United States" "" "0" "" "" "" "Pat7" "00239226" "" "" "" "1" "" "00006" "{PMID:Roberts 2004:14615376}" "" "" "" "United States" "" "0" "" "" "" "Pat4" "00239227" "" "" "" "1" "" "00006" "{PMID:Roberts 2004:14615376}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00239230" "" "" "" "1" "" "00006" "{PMID:Schumacher 2000:10982185}" "" "" "no" "Italy" "" "0" "" "" "" "PatGaMi" "00239231" "" "" "" "1" "" "00006" "{PMID:Schumacher 2000:10982185}" "" "" "no" "Italy" "" "0" "" "" "" "PatPMC" "00239232" "" "" "" "1" "" "00006" "{PMID:Schumacher 2000:10982185}" "" "" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatSB" "00239233" "" "" "" "1" "" "00006" "{PMID:Schumacher 2000:10982185}" "" "" "no" "Italy" "" "0" "" "" "" "PatLS" "00239234" "" "" "" "2" "" "00006" "{PMID:Schumacher 2000:10982185}" "2 related families" "" "" "Italy" "" "0" "" "" "" "PatDR/PatMN" "00239235" "" "" "" "2" "" "00006" "{PMID:Tezcan 2005:15644840}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "Pat1/2" "00239236" "" "" "" "1" "" "00006" "{PMID:Tomasson 2008:18270328}" "" "" "" "United States" "" "0" "" "" "" "" "00239237" "" "" "" "1" "" "00006" "{PMID:Uchiyama 2005:16190968}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat" "00239239" "" "" "" "1" "" "00006" "{PMID:Zhou 2001:11741532}, {PMID:Roberts 2004:14615376}" "" "F" "no" "United States" "" "0" "" "" "" "Pat" "00292063" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305939" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "37" "00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21" "00307262" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 86" "00334305" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334311" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334313" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334543" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334843" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334946" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335037" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335042" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00386508" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "patient" "" "" "Lebanon" "" "0" "" "" "" "" "00433076" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "United States" "" "0" "" "" "Europe" "Pat49,1" "00433137" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat117,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00150106" "02315" "00150107" "02806" "00239198" "05608" "00239199" "05608" "00239200" "05608" "00239201" "05608" "00239202" "05608" "00239203" "05608" "00239204" "05608" "00239205" "05608" "00239206" "05608" "00239207" "05608" "00239209" "05608" "00239210" "05608" "00239212" "05608" "00239213" "05608" "00239214" "05608" "00239215" "05608" "00239216" "05608" "00239217" "05608" "00239218" "05608" "00239219" "05608" "00239223" "05608" "00239224" "05608" "00239225" "05608" "00239226" "05608" "00239227" "05608" "00239230" "05608" "00239231" "05608" "00239232" "05608" "00239233" "05608" "00239234" "05608" "00239235" "05608" "00239236" "00908" "00239237" "05608" "00239239" "05608" "00292063" "00198" "00305939" "00198" "00307145" "01544" "00307262" "01544" "00334305" "05793" "00334311" "05793" "00334313" "05793" "00334543" "05793" "00334843" "05793" "00334946" "05793" "00335037" "05793" "00335042" "05793" "00386508" "00198" "00433076" "05292" "00433137" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00908, 01544, 02315, 02806, 05292, 05608, 05793 ## Count = 47 "{{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}}" "0000122530" "02315" "00150106" "02359" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122531" "02806" "00150107" "02359" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000179415" "05608" "00239198" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179416" "05608" "00239199" "00006" "Familial, autosomal recessive" "" "see paper; ..., T- B+ SCID" "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179417" "05608" "00239200" "00006" "Familial, autosomal recessive" "" "see papr; ..., T- B+ SCID" "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179418" "05608" "00239201" "00006" "Familial, autosomal recessive" "" "see paper; ..., T- B+ NK- SCID" "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179419" "05608" "00239202" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179420" "05608" "00239203" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179421" "05608" "00239205" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179422" "05608" "00239230" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179423" "05608" "00239231" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179424" "05608" "00239233" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179425" "05608" "00239234" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179426" "05608" "00239232" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179427" "05608" "00239212" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179428" "05608" "00239219" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179429" "05608" "00239218" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179430" "05608" "00239216" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179431" "05608" "00239217" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179432" "05608" "00239214" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179433" "05608" "00239213" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179434" "05608" "00239215" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179435" "05608" "00239239" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179436" "05608" "00239224" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179437" "05608" "00239226" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179438" "05608" "00239227" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179439" "05608" "00239225" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179440" "05608" "00239235" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179441" "05608" "00239237" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179442" "05608" "00239223" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179443" "05608" "00239207" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179444" "05608" "00239209" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000179445" "05608" "00239210" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "" "0000231789" "00198" "00305939" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "severe combined immunodeficiency" "severe combined immunodeficiency" "" "0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" "" "0000233066" "01544" "00307262" "03753" "Unknown" "" "Unilateral" "" "00y05m" "HP:0000486" "" "" "" "" "" "" "" "" "0000253115" "05793" "00334305" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253121" "05793" "00334311" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253123" "05793" "00334313" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253233" "05793" "00334543" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253240" "05793" "00334843" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253287" "05793" "00334946" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253319" "05793" "00335037" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253324" "05793" "00335042" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000280314" "00198" "00386508" "00006" "Unknown" "" "failure to thrive; recurrent infections; diarrhea (immune/fever)" "" "" "" "" "" "" "" "" "" "" "" "0000323602" "05292" "00433076" "00006" "Familial, autosomal recessive" "18y" "common variable immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323663" "05292" "00433137" "00006" "Familial, autosomal recessive" "1y" "severe combined immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 53 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000042" "00000042" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000150962" "00150106" "1" "02359" "02359" "2018-01-10 09:35:16" "" "" "SEQ-NG-I" "DNA" "blood" "amplicon sequencing" "0000150963" "00150107" "1" "02359" "02359" "2018-01-10 09:39:49" "" "" "SEQ-NG-I" "DNA" "blood" "amplicon sequencing" "0000240301" "00239198" "1" "00006" "00006" "2019-06-06 16:11:58" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240302" "00239199" "1" "00006" "00006" "2019-06-06 16:31:27" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240303" "00239200" "1" "00006" "00006" "2019-06-06 16:35:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240304" "00239201" "1" "00006" "00006" "2019-06-06 16:52:34" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240305" "00239202" "1" "00006" "00006" "2019-06-06 17:27:48" "00006" "2019-06-06 18:33:45" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240306" "00239203" "1" "00006" "00006" "2019-06-06 17:27:48" "00006" "2019-06-06 18:34:19" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240307" "00239204" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240308" "00239205" "1" "00006" "00006" "2019-06-06 17:27:48" "00006" "2019-06-06 17:48:34" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240309" "00239206" "1" "00006" "00006" "2019-06-06 17:27:48" "00006" "2019-06-06 17:52:35" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240310" "00239207" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240312" "00239209" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240313" "00239210" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240315" "00239212" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240316" "00239213" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240317" "00239214" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240318" "00239215" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240319" "00239216" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240320" "00239217" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240321" "00239218" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240322" "00239219" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240326" "00239223" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240327" "00239224" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240328" "00239225" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240329" "00239226" "1" "00006" "00006" "2019-06-06 17:27:48" "00006" "2019-06-06 20:08:02" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240330" "00239227" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240333" "00239230" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240334" "00239231" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240335" "00239232" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240336" "00239233" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240337" "00239234" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240338" "00239235" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240339" "00239236" "1" "00006" "00006" "2019-06-06 17:27:48" "" "" "SEQ" "DNA" "" "" "0000240340" "00239237" "1" "00006" "00006" "2019-06-06 17:27:48" "00006" "2019-06-06 23:09:03" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000240342" "00239239" "1" "00006" "00006" "2019-06-06 17:27:48" "00006" "2019-06-06 19:55:09" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000293231" "00292063" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307070" "00305939" "1" "03695" "03695" "2020-07-06 00:41:21" "" "" "SEQ-NG" "DNA" "" "" "0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "" "0000308404" "00307262" "1" "03753" "03753" "2020-08-07 04:11:37" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000335533" "00334305" "1" "04011" "04011" "2021-02-27 06:52:27" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335539" "00334311" "1" "04011" "04011" "2021-02-27 07:22:13" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335541" "00334313" "1" "04011" "04011" "2021-02-27 07:33:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335772" "00334543" "1" "04011" "04011" "2021-03-01 13:55:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336072" "00334843" "1" "04011" "04011" "2021-03-02 01:55:30" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336175" "00334946" "1" "04011" "04011" "2021-03-02 14:23:28" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336266" "00335037" "1" "04011" "04011" "2021-03-03 06:11:42" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336271" "00335042" "1" "04011" "04011" "2021-03-03 06:38:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000387735" "00386508" "1" "00006" "00006" "2021-10-22 17:45:19" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434507" "00433076" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434568" "00433137" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 67 "{{screeningid}}" "{{geneid}}" "0000000028" "ALG1" "0000000028" "AMPD1" "0000000028" "ATP7B" "0000000028" "BTD" "0000000028" "CBS" "0000000028" "CLN3" "0000000028" "CYP21A2" "0000000028" "FGG" "0000000028" "GALC" "0000000028" "GLB1" "0000000028" "JAK3" "0000000028" "NPHS1" "0000000028" "RAG2" "0000000028" "RPGRIP1L" "0000000028" "SERPINA1" "0000000028" "SLC26A2" "0000000042" "ATP7B" "0000000042" "DPYD" "0000000042" "ETFB" "0000000042" "GLB1" "0000000042" "IGHMBP2" "0000000042" "JAK3" "0000000042" "NPHP4" "0000000042" "NPHS1" "0000000042" "POLG" "0000000042" "QARS" "0000000042" "SERPINA1" "0000000042" "SLC26A2" "0000000042" "SMPD1" "0000150962" "JAK3" "0000150963" "JAK3" "0000240301" "JAK3" "0000240302" "JAK3" "0000240303" "JAK3" "0000240304" "JAK3" "0000240305" "JAK3" "0000240306" "JAK3" "0000240307" "JAK3" "0000240308" "JAK3" "0000240309" "JAK3" "0000240310" "JAK3" "0000240312" "JAK3" "0000240313" "JAK3" "0000240315" "JAK3" "0000240316" "JAK3" "0000240317" "JAK3" "0000240318" "JAK3" "0000240319" "JAK3" "0000240320" "JAK3" "0000240321" "JAK3" "0000240322" "JAK3" "0000240326" "JAK3" "0000240327" "JAK3" "0000240328" "JAK3" "0000240329" "JAK3" "0000240330" "JAK3" "0000240333" "JAK3" "0000240334" "JAK3" "0000240335" "JAK3" "0000240336" "JAK3" "0000240337" "JAK3" "0000240338" "JAK3" "0000240339" "JAK3" "0000240340" "JAK3" "0000240342" "JAK3" "0000307070" "JAK3" "0000308287" "RB1" ## 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 = 161 "{{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}}" "0000000760" "0" "50" "19" "17953950" "17953950" "subst" "0.00587635" "00002" "JAK3_000001" "g.17953950G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17843141G>C" "" "VUS" "" "0000000761" "0" "50" "19" "17945696" "17945696" "subst" "0.00863596" "00002" "JAK3_000002" "g.17945696C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17834887C>T" "" "VUS" "" "0000244108" "3" "90" "19" "17945780" "17945780" "subst" "0" "02359" "JAK3_000003" "g.17945780C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.17834971C>A" "" "pathogenic" "" "0000244109" "3" "90" "19" "17945406" "17945406" "subst" "4.06289E-6" "02359" "JAK3_000004" "g.17945406C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.17834597C>T" "" "pathogenic" "" "0000256636" "0" "50" "19" "17945735" "17945735" "subst" "8.12394E-6" "01943" "JAK3_000011" "g.17945735A>T" "" "" "" "JAK3(NM_000215.3):c.2125T>A (p.W709R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17834926A>T" "" "VUS" "" "0000281550" "0" "10" "19" "17932190" "17932190" "subst" "0.304003" "02325" "INSL3_000002" "g.17932190T>C" "" "" "" "INSL3(NM_001265587.2):c.126A>G (p.L42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17821381T>C" "" "benign" "" "0000281551" "0" "10" "19" "17932138" "17932138" "subst" "0.6494" "02325" "INSL3_000001" "g.17932138T>C" "" "" "" "INSL3(NM_001265587.2):c.178A>G (p.T60A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17821329T>C" "" "benign" "" "0000281626" "0" "10" "19" "17941294" "17941294" "subst" "0.376629" "02325" "JAK3_000006" "g.17941294T>C" "" "" "" "JAK3(NM_000215.4):c.3096+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17830485T>C" "" "benign" "" "0000281627" "0" "10" "19" "17940842" "17940842" "subst" "0" "02325" "JAK3_000005" "g.17940842G>A" "" "" "" "JAK3(NM_000215.4):c.3207+75C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17830033G>A" "" "benign" "" "0000285412" "0" "10" "19" "17951106" "17951106" "subst" "0.000532893" "02326" "JAK3_000017" "g.17951106G>A" "" "" "" "JAK3(NM_000215.3):c.1187C>T (p.P396L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17840297G>A" "" "benign" "" "0000285413" "0" "70" "19" "17947957" "17947957" "subst" "0" "02326" "JAK3_000014" "g.17947957G>A" "" "" "" "JAK3(NM_000215.3):c.1767C>T (p.G589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17837148G>A" "" "likely pathogenic" "" "0000285414" "0" "30" "19" "17946010" "17946010" "subst" "0.000973912" "02326" "JAK3_000013" "g.17946010C>T" "" "" "" "JAK3(NM_000215.3):c.1929G>A (p.L643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17835201C>T" "" "likely benign" "" "0000285415" "0" "30" "19" "17945784" "17945784" "subst" "2.03232E-5" "02326" "JAK3_000012" "g.17945784G>A" "" "" "" "JAK3(NM_000215.3):c.2076C>T (p.A692=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17834975G>A" "" "likely benign" "" "0000285416" "0" "30" "19" "17945708" "17945708" "subst" "0.00064176" "02326" "JAK3_000010" "g.17945708C>G" "" "" "" "JAK3(NM_000215.3):c.2152G>C (p.V718L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17834899C>G" "" "likely benign" "" "0000285417" "0" "30" "19" "17945696" "17945696" "subst" "0.00863596" "02326" "JAK3_000002" "g.17945696C>T" "" "" "" "JAK3(NM_000215.3):c.2164G>A (p.V722I), JAK3(NM_000215.4):c.2164G>A (p.(Val722Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17834887C>T" "" "likely benign" "" "0000289917" "0" "30" "19" "17948861" "17948861" "subst" "0.00121819" "01943" "JAK3_000015" "g.17948861C>T" "" "" "" "JAK3(NM_000215.3):c.1581G>A (p.L527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17838052C>T" "" "likely benign" "" "0000289918" "0" "30" "19" "17955065" "17955065" "subst" "0" "01943" "JAK3_000021" "g.17955065G>A" "" "" "" "JAK3(NM_000215.3):c.162C>T (p.C54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17844256G>A" "" "likely benign" "" "0000289919" "0" "30" "19" "17945708" "17945708" "subst" "0.00064176" "01943" "JAK3_000010" "g.17945708C>G" "" "" "" "JAK3(NM_000215.3):c.2152G>C (p.V718L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17834899C>G" "" "likely benign" "" "0000289920" "0" "50" "19" "17943505" "17943505" "subst" "2.43776E-5" "01943" "JAK3_000009" "g.17943505T>A" "" "" "" "JAK3(NM_000215.3):c.2503A>T (p.S835C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17832696T>A" "" "VUS" "" "0000289921" "0" "30" "19" "17942516" "17942516" "subst" "2.99863E-5" "01943" "JAK3_000008" "g.17942516G>A" "" "" "" "JAK3(NM_000215.3):c.2772C>T (p.S924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17831707G>A" "" "likely benign" "" "0000289922" "0" "30" "19" "17942515" "17942515" "subst" "0.00103306" "01943" "JAK3_000007" "g.17942515G>T" "" "" "" "JAK3(NM_000215.3):c.2773C>A (p.R925S), JAK3(NM_000215.4):c.2773C>A (p.(Arg925Ser), p.R925S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17831706G>T" "" "likely benign" "" "0000289923" "0" "30" "19" "17953355" "17953355" "subst" "0.00191713" "01943" "JAK3_000020" "g.17953355T>G" "" "" "" "JAK3(NM_000215.3):c.631A>C (p.R211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17842546T>G" "" "likely benign" "" "0000289924" "0" "10" "19" "17952592" "17952592" "subst" "0.0118682" "01943" "JAK3_000019" "g.17952592C>T" "" "" "" "JAK3(NM_000215.3):c.862-21G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17841783C>T" "" "benign" "" "0000289925" "0" "90" "19" "17952573" "17952573" "subst" "0" "01943" "JAK3_000018" "g.17952573T>C" "" "" "" "JAK3(NM_000215.3):c.862-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17841764T>C" "" "pathogenic" "" "0000341100" "0" "50" "19" "17940987" "17940987" "subst" "0" "02327" "JAK3_000022" "g.17940987G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17830178G>A" "" "VUS" "" "0000342829" "0" "90" "19" "17951085" "17951085" "subst" "0" "02327" "JAK3_000023" "g.17951085C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17840276C>T" "" "pathogenic" "" "0000484339" "3" "90" "19" "17947980" "17947980" "subst" "0" "00006" "JAK3_000024" "g.17947980G>A" "" "{PMID:Bozzi 1998:09753072}" "" "1839C>T (Arg577Trp)" "reduced sized : normal sized protein 1:1" "Germline" "" "" "0" "" "" "g.17837171G>A" "" "pathogenic (recessive)" "" "0000484340" "3" "90" "19" "17954595" "17954595" "subst" "4.06332E-6" "00006" "JAK3_000025" "g.17954595T>C" "" "{PMID:Macchi 1995:07659163}" "" "394A>G (Tyrl00Cys)" "" "Germline" "" "" "0" "" "" "g.17843786T>C" "" "pathogenic (recessive)" "" "0000484341" "3" "90" "19" "17945378" "17945378" "subst" "0" "00006" "JAK3_000026" "g.17945378A>G" "" "{PMID:Villa 1996:08704236}, {PMID:Macchi 1995:07659163}" "" "2294-2444del" "" "Germline" "" "" "0" "" "" "g.17834569A>G" "" "pathogenic (recessive)" "" "0000484342" "10" "90" "19" "17951119" "17951119" "dup" "0" "00006" "JAK3_000027" "g.17951119dup" "" "{PMID:Russell 1995:07481768}" "" "insG at 1172" "" "Germline" "" "" "0" "" "" "g.17840310dup" "" "pathogenic (recessive)" "" "0000484343" "21" "90" "19" "17948747" "17948747" "subst" "0" "00006" "JAK3_000028" "g.17948747G>T" "" "{PMID:Russell 1995:07481768}" "" "" "" "Germline" "" "" "0" "" "" "g.17837938G>T" "" "pathogenic (recessive)" "" "0000484344" "1" "90" "19" "17950394" "17950394" "subst" "0" "00006" "JAK3_000029" "g.17950394G>A" "" "{PMID:Candotti 1997:09354668}" "" "1428C>T" "" "Germline" "" "" "0" "" "" "g.17839585G>A" "" "pathogenic (recessive)" "" "0000484345" "1" "90" "19" "17949199" "17949199" "subst" "0" "00006" "JAK3_000031" "g.17949199T>C" "" "{PMID:Candotti 1997:09354668}" "" "1537A>G" "" "Germline" "" "" "0" "" "" "g.17838390T>C" "" "pathogenic (recessive)" "" "0000484346" "0" "90" "19" "17945455" "17945455" "subst" "0" "00006" "JAK3_000030" "g.17945455A>G" "" "{PMID:Candotti 1997:09354668}" "" "" "" "Germline" "" "" "0" "" "" "g.17834646A>G" "" "pathogenic (recessive)" "" "0000484347" "3" "90" "19" "17949201" "17949201" "subst" "0" "00006" "JAK3_000033" "g.17949201T>C" "" "{PMID:Candotti 1997:09354668}" "" "ex9 -2A>G" "" "Germline" "" "" "0" "" "" "g.17838392T>C" "" "pathogenic (recessive)" "" "0000484348" "3" "90" "19" "17947957" "17947957" "subst" "0" "00006" "JAK3_000014" "g.17947957G>A" "" "{PMID:Candotti 1997:09354668}" "" "1862C>T" "" "Germline" "" "" "0" "" "" "g.17837148G>A" "" "pathogenic (recessive)" "" "0000484349" "21" "90" "19" "17943350" "17943350" "subst" "0" "00006" "JAK3_000058" "g.17943350A>C" "" "{PMID:Gregoriou 2008:18845095}" "" "T2753G" "" "Germline" "" "" "0" "" "" "g.17832541A>C" "" "pathogenic (recessive)" "" "0000484351" "3" "90" "19" "17946035" "17946035" "subst" "0" "00006" "JAK3_000060" "g.17946035C>T" "" "{PMID:Lee 2010:21184155}" "" "IVS14-11G>A" "" "Germline" "" "" "0" "" "" "g.17835226C>T" "" "pathogenic (recessive)" "" "0000484352" "1" "90" "19" "17955118" "17955118" "dup" "0" "00006" "JAK3_000061" "g.17955118dup" "" "{PMID:Lee 2010:21184155}" "" "115-116insC" "" "Germline" "" "" "0" "" "" "g.17844309dup" "" "pathogenic (recessive)" "" "0000484354" "1" "90" "19" "17955226" "17955226" "subst" "0" "00006" "JAK3_000037" "g.17955226T>C" "" "{PMID:Mella 2001:11668621}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17844417T>C" "" "pathogenic (recessive)" "" "0000484355" "3" "90" "19" "17945434" "17945434" "subst" "0" "00006" "JAK3_000046" "g.17945434G>A" "" "{PMID:Mella 2001:11668621}" "" "g.2391C>T" "" "Germline" "" "" "0" "" "" "g.17834625G>A" "" "pathogenic (recessive)" "" "0000484356" "3" "90" "19" "17945795" "17945795" "subst" "0" "00006" "JAK3_000045" "g.17945795G>A" "" "{PMID:Mella 2001:11668621}" "" "g.2160C>T" "" "Germline" "" "" "0" "" "" "g.17834986G>A" "" "pathogenic (recessive)" "" "0000484357" "3" "90" "19" "17945419" "17945419" "subst" "8.13101E-6" "00006" "JAK3_000047" "g.17945419G>A" "" "{PMID:Mella 2001:11668621}" "" "g.2406C>T" "" "Germline" "" "" "0" "" "" "g.17834610G>A" "" "pathogenic (recessive)" "" "0000484358" "1" "90" "19" "17945988" "17945988" "subst" "4.06808E-6" "00006" "JAK3_000043" "g.17945988G>A" "" "{PMID:Mella 2001:11668621}" "" "g.2046C>T" "" "Germline" "" "" "0" "" "" "g.17835179G>A" "" "pathogenic (recessive)" "" "0000484359" "3" "90" "19" "17945988" "17945988" "subst" "4.06808E-6" "00006" "JAK3_000043" "g.17945988G>A" "" "{PMID:Mella 2001:11668621}" "" "g.2046C>T" "" "Germline" "" "" "0" "" "" "g.17835179G>A" "" "pathogenic (recessive)" "" "0000484360" "2" "90" "19" "17945768" "17945768" "subst" "0" "00006" "JAK3_000041" "g.17945768C>A" "" "{PMID:Mella 2001:11668621}" "" "g.2187G>T" "" "Germline" "" "" "0" "" "" "g.17834959C>A" "" "pathogenic (recessive)" "" "0000484361" "1" "90" "19" "17955055" "17955055" "subst" "0" "00006" "JAK3_000039" "g.17955055C>G" "" "{PMID:Mella 2001:11668621}" "" "g.268G>C" "" "Germline" "" "" "0" "" "" "g.17844246C>G" "" "pathogenic (recessive)" "" "0000484365" "3" "90" "19" "17937720" "17937720" "subst" "0" "00006" "JAK3_000056" "g.17937720C>T" "" "{PMID:Mjannes 2007:17433830}" "" "IVS22-1G>A" "" "Germline" "" "" "0" "" "" "g.17826911C>T" "" "pathogenic (recessive)" "" "0000484366" "3" "90" "19" "17947959" "17947959" "subst" "0" "00006" "JAK3_000050" "g.17947959C>T" "" "{PMID:Roberts 2004:14615376}" "" "" "" "Germline" "" "" "0" "" "" "g.17837150C>T" "" "pathogenic (recessive)" "" "0000484367" "3" "90" "19" "17942501" "17942501" "subst" "0" "00006" "JAK3_000053" "g.17942501A>C" "" "{PMID:Roberts 2004:14615376}" "" "2882T>G" "paternal DNA not available" "Germline" "" "" "0" "" "" "g.17831692A>C" "" "pathogenic (recessive)" "" "0000484368" "21" "90" "19" "17942054" "17942054" "subst" "0" "00006" "JAK3_000051" "g.17942054G>A" "" "{PMID:Roberts 2004:14615376}" "" "" "" "Germline" "" "" "0" "" "" "g.17831245G>A" "" "pathogenic (recessive)" "" "0000484369" "3" "90" "19" "17955121" "17955121" "del" "0" "00006" "JAK3_000052" "g.17955121del" "" "{PMID:Roberts 2004:14615376}" "" "203delG" "" "Germline" "" "" "0" "" "" "g.17844312del" "" "pathogenic (recessive)" "" "0000484372" "2" "90" "19" "17941339" "17941339" "subst" "0" "00006" "JAK3_000034" "g.17941339G>T" "" "{PMID:Schumacher 2000:10982185}" "" "C3164A" "" "Germline" "" "" "0" "" "" "g.17830530G>T" "" "pathogenic (recessive)" "" "0000484373" "1" "90" "19" "17953950" "17953950" "subst" "0.00587635" "00006" "JAK3_000001" "g.17953950G>C" "" "{PMID:Schumacher 2000:10982185}" "" "C547G" "" "Germline" "" "" "0" "" "" "g.17843141G>C" "" "pathogenic (recessive)" "" "0000484374" "3" "90" "19" "17941310" "17941310" "subst" "0" "00006" "JAK3_000036" "g.17941310A>T" "" "{PMID:Schumacher 2000:10982185}" "" "IVS21 t+2a" "" "Germline" "" "" "0" "" "" "g.17830501A>T" "" "pathogenic (recessive)" "" "0000484375" "1" "90" "19" "17945696" "17945696" "subst" "0.00863596" "00006" "JAK3_000002" "g.17945696C>T" "" "{PMID:Schumacher 2000:10982185}" "" "G2259A" "" "Germline" "" "" "0" "" "" "g.17834887C>T" "" "pathogenic (recessive)" "" "0000484376" "3" "90" "19" "17950394" "17950394" "subst" "0" "00006" "JAK3_000029" "g.17950394G>A" "" "{PMID:Schumacher 2000:10982185}" "" "C1428T" "" "Germline" "yes" "" "0" "" "" "g.17839585G>A" "" "pathogenic (recessive)" "" "0000484377" "3" "90" "19" "17945719" "17945719" "subst" "4.06194E-5" "00006" "JAK3_000054" "g.17945719G>A" "" "{PMID:Tezcan 2005:15644840}" "" "C2236T" "" "Germline" "" "" "0" "" "" "g.17834910G>A" "" "pathogenic (recessive)" "" "0000484378" "1" "90" "19" "17954215" "17954215" "subst" "0.00592293" "00006" "JAK3_000057" "g.17954215G>T" "5/188 cases" "{PMID:Tomasson 2008:18270328}" "" "" "not in 188 controls" "Germline" "" "rs3212723" "0" "" "" "g.17843406G>T" "" "association" "" "0000484379" "3" "90" "19" "17949073" "17949073" "subst" "0" "00006" "JAK3_000055" "g.17949073C>T" "" "{PMID:Uchiyama 2005:16190968}" "" "" "" "Germline" "" "" "0" "" "" "g.17838264C>T" "" "pathogenic (recessive)" "" "0000484381" "1" "90" "19" "17953895" "17953895" "subst" "8.33451E-6" "00006" "JAK3_000048" "g.17953895G>T" "" "{PMID:Zhou 2001:11741532}, {PMID:Roberts 2004:14615376}" "" "D169E" "" "Germline" "" "" "0" "" "" "g.17843086G>T" "" "pathogenic (recessive)" "" "0000484383" "2" "90" "19" "17945455" "17945455" "subst" "0" "00006" "JAK3_000030" "g.17945455A>G" "" "{PMID:Candotti 1997:09354668}" "" "2370T>C" "" "Germline" "" "" "0" "" "" "g.17834646A>G" "" "pathogenic (recessive)" "" "0000484384" "2" "90" "19" "17947937" "17949200" "del" "0" "00006" "JAK3_000032" "g.(17946861_17947937)_(17949200_17950285)del" "" "{PMID:Candotti 1997:09354668}" "" "del ex10-12" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000484385" "1" "90" "19" "17942559" "17942559" "subst" "0" "00006" "JAK3_000035" "g.17942559A>G" "" "{PMID:Schumacher 2000:10982185}" "" "T2824C" "" "Germline" "" "" "0" "" "" "g.17831750A>G" "" "pathogenic (recessive)" "" "0000484386" "2" "90" "19" "17943325" "17943325" "subst" "8.12499E-6" "00006" "JAK3_000038" "g.17943325C>G" "" "{PMID:Mella 2001:11668621}" "" "IVS18+3G>C" "" "Germline" "yes" "" "0" "" "" "g.17832516C>G" "" "pathogenic (recessive)" "" "0000484387" "2" "90" "19" "17941336" "17941336" "del" "0" "00006" "JAK3_000040" "g.17941336del" "" "{PMID:Mella 2001:11668621}" "" "g.3167del (C1024fsX1037)" "" "Germline" "" "" "0" "" "" "g.17830527del" "" "pathogenic (recessive)" "" "0000484388" "1" "90" "19" "17946861" "17946861" "subst" "0" "00006" "JAK3_000042" "g.17946861C>T" "" "{PMID:Mella 2001:11668621}" "" "IVS12-1G>A" "" "Germline" "" "" "0" "" "" "g.17836052C>T" "" "pathogenic (recessive)" "" "0000484389" "2" "90" "19" "17945780" "17945780" "subst" "0" "00006" "JAK3_000044" "g.17945780C>T" "" "{PMID:Mella 2001:11668621}" "" "g.2175G>A" "" "Germline" "" "" "0" "" "" "g.17834971C>T" "" "pathogenic (recessive)" "" "0000484390" "2" "90" "19" "17955056" "17955058" "del" "0" "00006" "JAK3_000049" "g.17955056_17955058del" "" "{PMID:Zhou 2001:11741532}, {PMID:Roberts 2004:14615376}" "" "A58del,266delTGC" "" "Germline" "" "" "0" "" "" "g.17844247_17844249del" "" "pathogenic (recessive)" "" "0000484391" "11" "90" "19" "17945696" "17945696" "subst" "0.00863596" "00006" "JAK3_000002" "g.17945696C>T" "" "{PMID:Roberts 2004:14615376}" "" "2259G>A" "" "Germline" "" "" "0" "" "" "g.17834887C>T" "" "pathogenic (recessive)" "" "0000484392" "11" "90" "19" "17941398" "17941400" "del" "0" "00006" "JAK3_000059" "g.17941398_17941400del" "" "{PMID:Gregoriou 2008:18845095}" "" "3103-3105delTCT" "" "Germline" "" "" "0" "" "" "g.17830589_17830591del" "" "pathogenic (recessive)" "" "0000484393" "2" "90" "19" "17947980" "17947980" "subst" "0" "00006" "JAK3_000024" "g.17947980G>A" "" "{PMID:Lee 2010:21184155}" "" "" "" "Germline" "" "" "0" "" "" "g.17837171G>A" "" "pathogenic (recessive)" "" "0000566568" "0" "30" "19" "17942542" "17942542" "subst" "2.09377E-5" "01804" "JAK3_000063" "g.17942542G>A" "" "" "" "JAK3(NM_000215.3):c.2746C>T (p.(Arg916Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17831733G>A" "" "likely benign" "" "0000566569" "0" "30" "19" "17942548" "17942548" "subst" "2.08385E-5" "01943" "JAK3_000064" "g.17942548G>A" "" "" "" "JAK3(NM_000215.3):c.2740C>T (p.L914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17831739G>A" "" "likely benign" "" "0000566570" "0" "50" "19" "17943348" "17943348" "subst" "0.000162458" "01943" "JAK3_000065" "g.17943348C>T" "" "" "" "JAK3(NM_000215.3):c.2660G>A (p.R887H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17832539C>T" "" "VUS" "" "0000566571" "0" "50" "19" "17943490" "17943490" "subst" "0.000231559" "01943" "JAK3_000066" "g.17943490G>A" "" "" "" "JAK3(NM_000215.3):c.2518C>T (p.R840C), JAK3(NM_000215.4):c.2518C>T (p.(Arg840Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17832681G>A" "" "VUS" "" "0000566572" "0" "30" "19" "17945495" "17945495" "subst" "0.000830517" "01943" "JAK3_000067" "g.17945495C>T" "" "" "" "JAK3(NM_000215.3):c.2235G>A (p.P745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17834686C>T" "" "likely benign" "" "0000566573" "0" "30" "19" "17945495" "17945495" "subst" "0.000830517" "02326" "JAK3_000067" "g.17945495C>T" "" "" "" "JAK3(NM_000215.3):c.2235G>A (p.P745=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17834686C>T" "" "likely benign" "" "0000566574" "0" "30" "19" "17945765" "17945765" "subst" "5.28172E-5" "01943" "JAK3_000068" "g.17945765C>A" "" "" "" "JAK3(NM_000215.3):c.2095G>T (p.A699S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17834956C>A" "" "likely benign" "" "0000566575" "0" "30" "19" "17947972" "17947972" "subst" "0.000106798" "01943" "JAK3_000069" "g.17947972G>A" "" "" "" "JAK3(NM_000215.3):c.1752C>T (p.L584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17837163G>A" "" "likely benign" "" "0000566576" "0" "30" "19" "17948861" "17948861" "subst" "0.00121819" "02326" "JAK3_000015" "g.17948861C>T" "" "" "" "JAK3(NM_000215.3):c.1581G>A (p.L527=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17838052C>T" "" "likely benign" "" "0000566577" "0" "30" "19" "17949090" "17949090" "subst" "0.000657815" "01943" "JAK3_000070" "g.17949090A>T" "" "" "" "JAK3(NM_000215.3):c.1551T>A (p.P517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17838281A>T" "" "likely benign" "" "0000566578" "0" "30" "19" "17950375" "17950375" "subst" "1.6947E-5" "02325" "JAK3_000071" "g.17950375C>T" "" "" "" "JAK3(NM_000215.3):c.1352G>A (p.R451Q), JAK3(NM_000215.4):c.1352G>A (p.R451Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17839566C>T" "" "likely benign" "" "0000566579" "0" "90" "19" "17950382" "17950382" "dup" "0" "01943" "JAK3_000072" "g.17950382dup" "" "" "" "JAK3(NM_000215.3):c.1345dupA (p.S449Kfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17839573dup" "" "pathogenic" "" "0000566581" "0" "30" "19" "17953242" "17953242" "subst" "3.79692E-5" "01943" "JAK3_000074" "g.17953242G>C" "" "" "" "JAK3(NM_000215.3):c.744C>G (p.A248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17842433G>C" "" "likely benign" "" "0000566582" "0" "50" "19" "17953335" "17953335" "subst" "0" "01943" "JAK3_000075" "g.17953335C>T" "" "" "" "JAK3(NM_000215.3):c.651G>A (p.V217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17842526C>T" "" "VUS" "" "0000566583" "0" "50" "19" "17953972" "17953972" "subst" "0" "02327" "JAK3_000076" "g.17953972C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17843163C>T" "" "VUS" "" "0000566584" "0" "30" "19" "17954215" "17954215" "subst" "0.00592293" "02326" "JAK3_000057" "g.17954215G>T" "" "" "" "JAK3(NM_000215.3):c.394C>A (p.P132T), JAK3(NM_000215.4):c.394C>A (p.(Pro132Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17843406G>T" "" "likely benign" "" "0000566585" "0" "50" "19" "17954248" "17954248" "subst" "0" "01943" "JAK3_000077" "g.17954248G>A" "" "" "" "JAK3(NM_000215.3):c.361C>T (p.R121C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17843439G>A" "" "VUS" "" "0000566586" "0" "30" "19" "17954255" "17954255" "subst" "0.000180716" "01943" "JAK3_000078" "g.17954255G>A" "" "" "" "JAK3(NM_000215.3):c.354C>T (p.F118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17843446G>A" "" "likely benign" "" "0000566587" "0" "30" "19" "17954642" "17954642" "subst" "0.000810851" "01943" "JAK3_000079" "g.17954642C>T" "" "" "" "JAK3(NM_000215.3):c.252G>A (p.P84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17843833C>T" "" "likely benign" "" "0000566588" "0" "30" "19" "17954642" "17954642" "subst" "0.000810851" "02326" "JAK3_000079" "g.17954642C>T" "" "" "" "JAK3(NM_000215.3):c.252G>A (p.P84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17843833C>T" "" "likely benign" "" "0000566589" "0" "30" "19" "17955108" "17955108" "subst" "0.000147667" "01943" "JAK3_000080" "g.17955108C>T" "" "" "" "JAK3(NM_000215.3):c.119G>A (p.R40H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17844299C>T" "" "likely benign" "" "0000566590" "0" "50" "19" "17955108" "17955108" "subst" "0.000147667" "02327" "JAK3_000080" "g.17955108C>T" "" "" "" "JAK3(NM_000215.3):c.119G>A (p.R40H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17844299C>T" "" "VUS" "" "0000566591" "0" "90" "19" "17955118" "17955118" "del" "0" "01943" "JAK3_000081" "g.17955118del" "" "" "" "JAK3(NM_000215.3):c.115delC (p.Q39Sfs*108)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17844309del" "" "pathogenic" "" "0000617456" "0" "90" "19" "17937720" "17937720" "subst" "0" "02327" "JAK3_000056" "g.17937720C>T" "" "" "" "JAK3(NM_000215.3):c.3208-1G>A, JAK3(NM_000215.4):c.3208-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17826911C>T" "" "pathogenic" "" "0000617457" "0" "30" "19" "17943383" "17943383" "subst" "0.0106921" "01804" "JAK3_000082" "g.17943383G>A" "" "" "" "JAK3(NM_000215.3):c.2625C>T (p.(Leu875=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17832574G>A" "" "likely benign" "" "0000623955" "0" "30" "19" "17952257" "17952257" "subst" "0" "01943" "JAK3_000083" "g.17952257C>T" "" "" "" "JAK3(NM_000215.3):c.1083G>A (p.K361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17841448C>T" "" "likely benign" "" "0000623956" "0" "70" "19" "17953128" "17953128" "del" "0" "02326" "JAK3_000084" "g.17953128del" "" "" "" "JAK3(NM_000215.3):c.859delG (p.E287Rfs*13), JAK3(NM_000215.4):c.859delG (p.E287Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17842319del" "" "likely pathogenic" "" "0000623957" "0" "70" "19" "17954586" "17954586" "subst" "8.12863E-6" "02326" "JAK3_000085" "g.17954586C>T" "" "" "" "JAK3(NM_000215.3):c.308G>A (p.R103H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17843777C>T" "" "likely pathogenic" "" "0000649920" "1" "70" "19" "17954586" "17954586" "subst" "8.12863E-6" "03575" "JAK3_000085" "g.17954586C>T" "2/2781 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs774202259}" "Germline" "" "rs774202259" "0" "" "" "g.17843777C>T" "" "likely pathogenic" "" "0000658523" "0" "90" "19" "17937720" "17937720" "subst" "0" "01943" "JAK3_000056" "g.17937720C>T" "" "" "" "JAK3(NM_000215.3):c.3208-1G>A, JAK3(NM_000215.4):c.3208-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17826911C>T" "" "pathogenic" "" "0000658524" "0" "90" "19" "17937720" "17937720" "subst" "0" "02325" "JAK3_000056" "g.17937720C>T" "" "" "" "JAK3(NM_000215.3):c.3208-1G>A, JAK3(NM_000215.4):c.3208-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17826911C>T" "" "pathogenic" "" "0000658525" "0" "30" "19" "17949188" "17949188" "subst" "0.000820245" "02326" "JAK3_000086" "g.17949188G>A" "" "" "" "JAK3(NM_000215.3):c.1453C>T (p.L485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17838379G>A" "" "likely benign" "" "0000673614" "1" "70" "19" "17941358" "17941358" "subst" "0" "03695" "JAK3_000087" "g.17941358A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17830549A>G" "" "pathogenic (recessive)" "" "0000673615" "2" "90" "19" "17947980" "17947980" "subst" "0" "03695" "JAK3_000024" "g.17947980G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17837171G>A" "" "pathogenic (recessive)" "" "0000675214" "0" "70" "19" "17943670" "17943670" "subst" "0" "03753" "JAK3_000088" "g.17943670G>A" "0.037" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000681333" "0" "30" "19" "17942516" "17942516" "subst" "2.99863E-5" "02326" "JAK3_000008" "g.17942516G>A" "" "" "" "JAK3(NM_000215.3):c.2772C>T (p.S924=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681334" "0" "30" "19" "17953212" "17953212" "subst" "1.07747E-5" "02326" "JAK3_000089" "g.17953212G>A" "" "" "" "JAK3(NM_000215.3):c.774C>T (p.L258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681335" "0" "30" "19" "17953950" "17953950" "subst" "0.00587635" "01804" "JAK3_000001" "g.17953950G>C" "" "" "" "JAK3(NM_000215.3):c.452C>G (p.(Pro151Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682770" "0" "70" "19" "17943670" "17943670" "subst" "0" "03753" "JAK3_000088" "g.17943670G>A" "0.045" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000692720" "0" "30" "19" "17931295" "17931295" "subst" "0" "01943" "JAK3_000090" "g.17931295C>T" "" "" "" "INSL3(NM_001265587.1):c.195G>A (p.R65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734008" "0" "70" "19" "17949148" "17949148" "subst" "0" "04011" "JAK3_000092" "g.17949148G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734025" "0" "70" "19" "17945798" "17945798" "subst" "0.000260131" "04011" "JAK3_000091" "g.17945798T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734029" "0" "70" "19" "17955118" "17955118" "del" "0" "04011" "JAK3_000093" "g.17955118del" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "115delC" "" "Germline" "" "" "0" "" "" "g.17844309del" "" "VUS" "" "0000734649" "0" "70" "19" "17953321" "17953321" "subst" "0.000182626" "04011" "JAK3_000096" "g.17953321C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734990" "0" "70" "19" "17945798" "17945798" "subst" "0.000260131" "04011" "JAK3_000091" "g.17945798T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735309" "0" "70" "19" "17942161" "17942161" "subst" "2.46857E-5" "04011" "JAK3_000094" "g.17942161C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735513" "0" "70" "19" "17942572" "17942572" "subst" "0" "04011" "JAK3_000095" "g.17942572G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735537" "0" "70" "19" "17945798" "17945798" "subst" "0.000260131" "04011" "JAK3_000091" "g.17945798T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000808761" "0" "30" "19" "17937627" "17937627" "subst" "0.000320042" "02326" "JAK3_000097" "g.17937627G>A" "" "" "" "JAK3(NM_000215.3):c.3300C>T (p.S1100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808762" "0" "50" "19" "17942515" "17942515" "subst" "0.00103306" "02325" "JAK3_000007" "g.17942515G>T" "" "" "" "JAK3(NM_000215.3):c.2773C>A (p.R925S), JAK3(NM_000215.4):c.2773C>A (p.(Arg925Ser), p.R925S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808763" "0" "90" "19" "17945379" "17945379" "subst" "0" "02327" "JAK3_000098" "g.17945379C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808764" "0" "30" "19" "17948764" "17948764" "subst" "2.03028E-5" "01943" "JAK3_000099" "g.17948764C>T" "" "" "" "JAK3(NM_000215.3):c.1678G>A (p.A560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808765" "0" "30" "19" "17950375" "17950375" "subst" "1.6947E-5" "01943" "JAK3_000071" "g.17950375C>T" "" "" "" "JAK3(NM_000215.3):c.1352G>A (p.R451Q), JAK3(NM_000215.4):c.1352G>A (p.R451Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815869" "3" "70" "19" "17945719" "17945719" "subst" "4.06194E-5" "00006" "JAK3_000054" "g.17945719G>A" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "rs140655992" "0" "" "" "g.17834910G>A" "" "likely pathogenic" "" "0000855486" "0" "30" "19" "17937659" "17937659" "subst" "0.000349176" "01943" "JAK3_000100" "g.17937659C>T" "" "" "" "JAK3(NM_000215.3):c.3268G>A (p.A1090T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865956" "0" "30" "19" "17941304" "17941304" "subst" "1.24332E-5" "01943" "JAK3_000101" "g.17941304C>T" "" "" "" "JAK3(NM_000215.3):c.3096+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865957" "0" "30" "19" "17942525" "17942525" "subst" "0" "01943" "JAK3_000102" "g.17942525G>C" "" "" "" "JAK3(NM_000215.3):c.2763C>G (p.L921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894865" "0" "30" "19" "17942515" "17942515" "subst" "0.00103306" "02326" "JAK3_000007" "g.17942515G>T" "" "" "" "JAK3(NM_000215.3):c.2773C>A (p.R925S), JAK3(NM_000215.4):c.2773C>A (p.(Arg925Ser), p.R925S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894866" "0" "30" "19" "17943348" "17943348" "subst" "0.000162458" "02326" "JAK3_000065" "g.17943348C>T" "" "" "" "JAK3(NM_000215.3):c.2660G>A (p.R887H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894867" "0" "30" "19" "17943525" "17943525" "subst" "8.12691E-6" "02326" "JAK3_000103" "g.17943525A>G" "" "" "" "JAK3(NM_000215.3):c.2491-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894868" "0" "30" "19" "17952209" "17952209" "subst" "0.0031204" "02326" "JAK3_000104" "g.17952209G>A" "" "" "" "JAK3(NM_000215.3):c.1131C>T (p.H377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920262" "21" "50" "19" "17946015" "17946015" "subst" "4.08343E-6" "00006" "JAK3_000105" "g.17946015C>G" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.17835206C>G" "" "VUS" "ACMG" "0000920320" "11" "90" "19" "17948747" "17948747" "subst" "0" "00006" "JAK3_000028" "g.17948747G>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17837938G>T" "" "pathogenic" "ACMG" "0000920345" "11" "50" "19" "17953950" "17953950" "subst" "0.00587635" "00006" "JAK3_000001" "g.17953950G>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.17843141G>C" "" "VUS" "ACMG" "0000920364" "21" "90" "19" "17946810" "17946810" "subst" "1.21878E-5" "00006" "JAK3_000106" "g.17946810G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17836001G>A" "" "pathogenic" "ACMG" "0000926840" "0" "30" "19" "17945361" "17945361" "subst" "0" "02326" "JAK3_000107" "g.17945361A>C" "" "" "" "JAK3(NM_000215.3):c.2350+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931022" "0" "30" "19" "17943666" "17943666" "subst" "0" "02326" "JAK3_000109" "g.17943666A>G" "" "" "" "JAK3(NM_000215.3):c.2423T>C (p.L808P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931023" "0" "10" "19" "17949204" "17949204" "subst" "0.00155929" "02326" "JAK3_000110" "g.17949204G>A" "" "" "" "JAK3(NM_000215.3):c.1442-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951249" "0" "30" "19" "17937645" "17937645" "subst" "0" "02326" "JAK3_000111" "g.17937645C>T" "" "" "" "JAK3(NM_000215.3):c.3282G>A (p.Q1094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951250" "0" "30" "19" "17945366" "17945366" "subst" "2.0356E-5" "02326" "JAK3_000112" "g.17945366G>C" "" "" "" "JAK3(NM_000215.3):c.2350+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951251" "0" "30" "19" "17949093" "17949093" "subst" "0.000864904" "02326" "JAK3_000113" "g.17949093G>A" "" "" "" "JAK3(NM_000215.3):c.1548C>T (p.I516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951252" "0" "30" "19" "17951019" "17951019" "subst" "0.00344802" "02326" "JAK3_000114" "g.17951019C>T" "" "" "" "JAK3(NM_000215.3):c.1254+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951253" "0" "30" "19" "17953242" "17953242" "subst" "3.79692E-5" "02326" "JAK3_000074" "g.17953242G>C" "" "" "" "JAK3(NM_000215.3):c.744C>G (p.A248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951254" "0" "30" "19" "17954575" "17954575" "dup" "0" "02326" "JAK3_000115" "g.17954575dup" "" "" "" "JAK3(NM_000215.3):c.308+16dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983309" "0" "30" "19" "17937710" "17937710" "subst" "0.000432253" "01804" "JAK3_000116" "g.17937710G>A" "" "" "" "JAK3(NM_000215.4):c.3217C>T (p.(Leu1073Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983310" "0" "30" "19" "17942515" "17942515" "subst" "0.00103306" "01804" "JAK3_000007" "g.17942515G>T" "" "" "" "JAK3(NM_000215.3):c.2773C>A (p.R925S), JAK3(NM_000215.4):c.2773C>A (p.(Arg925Ser), p.R925S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983311" "0" "50" "19" "17942557" "17942557" "subst" "0" "01804" "JAK3_000117" "g.17942557G>T" "" "" "" "JAK3(NM_000215.4):c.2731C>A (p.(Arg911Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983312" "0" "50" "19" "17943378" "17943378" "subst" "7.30941E-5" "01804" "JAK3_000118" "g.17943378G>A" "" "" "" "JAK3(NM_000215.4):c.2630C>T (p.(Ala877Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983313" "0" "50" "19" "17943490" "17943490" "subst" "0.000231559" "01804" "JAK3_000066" "g.17943490G>A" "" "" "" "JAK3(NM_000215.3):c.2518C>T (p.R840C), JAK3(NM_000215.4):c.2518C>T (p.(Arg840Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983314" "0" "50" "19" "17951097" "17951097" "subst" "2.44077E-5" "01804" "JAK3_000119" "g.17951097T>C" "" "" "" "JAK3(NM_000215.4):c.1196A>G (p.(Tyr399Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004508" "0" "50" "19" "17947943" "17947943" "subst" "0" "01804" "JAK3_000120" "g.17947943C>G" "" "" "" "JAK3(NM_000215.3):c.1781G>C (p.(Gly594Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027193" "0" "70" "19" "17951089" "17951089" "subst" "0" "02325" "JAK3_000121" "g.17951089G>C" "" "" "" "JAK3(NM_000215.4):c.1204C>G (p.R402G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001027194" "0" "10" "19" "17953950" "17953950" "subst" "0.00587635" "02327" "JAK3_000001" "g.17953950G>C" "" "" "" "JAK3(NM_000215.3):c.452C>G (p.(Pro151Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042789" "0" "30" "19" "17945696" "17945696" "subst" "0.00863596" "01804" "JAK3_000002" "g.17945696C>T" "" "" "" "JAK3(NM_000215.3):c.2164G>A (p.V722I), JAK3(NM_000215.4):c.2164G>A (p.(Val722Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042790" "0" "30" "19" "17945893" "17945893" "subst" "0" "01804" "JAK3_000122" "g.17945893C>T" "" "" "" "JAK3(NM_000215.4):c.2046G>A (p.(Glu682=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042791" "0" "30" "19" "17952445" "17952445" "subst" "0" "01804" "JAK3_000123" "g.17952445C>T" "" "" "" "JAK3(NM_000215.4):c.984+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042792" "0" "10" "19" "17954215" "17954215" "subst" "0.00592293" "01804" "JAK3_000057" "g.17954215G>T" "" "" "" "JAK3(NM_000215.3):c.394C>A (p.P132T), JAK3(NM_000215.4):c.394C>A (p.(Pro132Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046725" "0" "70" "19" "17945726" "17945726" "subst" "1.2186E-5" "02325" "JAK3_000124" "g.17945726C>T" "" "" "" "JAK3(NM_000215.4):c.2134G>A (p.G712S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046726" "0" "70" "19" "17953128" "17953128" "del" "0" "02325" "JAK3_000084" "g.17953128del" "" "" "" "JAK3(NM_000215.3):c.859delG (p.E287Rfs*13), JAK3(NM_000215.4):c.859delG (p.E287Rfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes JAK3 ## Count = 161 "{{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}}" "0000000760" "00000013" "50" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Pro151Arg)" "" "0000000761" "00000013" "50" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Val722Ile)" "" "0000244108" "00000013" "90" "2080" "0" "2080" "0" "c.2080G>T" "r.(?)" "p.(Glu694*)" "15" "0000244109" "00000013" "90" "2324" "0" "2324" "0" "c.2324G>A" "r.(?)" "p.(Arg775His)" "16" "0000256636" "00000013" "50" "2125" "0" "2125" "0" "c.2125T>A" "r.(?)" "p.(Trp709Arg)" "" "0000281550" "00000013" "10" "8737" "0" "8737" "0" "c.*5362A>G" "r.(=)" "p.(=)" "" "0000281551" "00000013" "10" "8789" "0" "8789" "0" "c.*5414A>G" "r.(=)" "p.(=)" "" "0000281626" "00000013" "10" "3096" "18" "3096" "18" "c.3096+18A>G" "r.(=)" "p.(=)" "" "0000281627" "00000013" "10" "3207" "75" "3207" "75" "c.3207+75C>T" "r.(=)" "p.(=)" "" "0000285412" "00000013" "10" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.(Pro396Leu)" "" "0000285413" "00000013" "70" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Gly589=)" "" "0000285414" "00000013" "30" "1929" "0" "1929" "0" "c.1929G>A" "r.(?)" "p.(Leu643=)" "" "0000285415" "00000013" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ala692=)" "" "0000285416" "00000013" "30" "2152" "0" "2152" "0" "c.2152G>C" "r.(?)" "p.(Val718Leu)" "" "0000285417" "00000013" "30" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Val722Ile)" "" "0000289917" "00000013" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Leu527=)" "" "0000289918" "00000013" "30" "162" "0" "162" "0" "c.162C>T" "r.(?)" "p.(Cys54=)" "" "0000289919" "00000013" "30" "2152" "0" "2152" "0" "c.2152G>C" "r.(?)" "p.(Val718Leu)" "" "0000289920" "00000013" "50" "2503" "0" "2503" "0" "c.2503A>T" "r.(?)" "p.(Ser835Cys)" "" "0000289921" "00000013" "30" "2772" "0" "2772" "0" "c.2772C>T" "r.(?)" "p.(Ser924=)" "" "0000289922" "00000013" "30" "2773" "0" "2773" "0" "c.2773C>A" "r.(?)" "p.(Arg925Ser)" "" "0000289923" "00000013" "30" "631" "0" "631" "0" "c.631A>C" "r.(?)" "p.(Arg211=)" "" "0000289924" "00000013" "10" "862" "-21" "862" "-21" "c.862-21G>A" "r.(=)" "p.(=)" "" "0000289925" "00000013" "90" "862" "-2" "862" "-2" "c.862-2A>G" "r.spl?" "p.?" "" "0000341100" "00000013" "50" "3137" "0" "3137" "0" "c.3137C>T" "r.(?)" "p.(Ala1046Val)" "" "0000342829" "00000013" "90" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Arg403His)" "" "0000484339" "00000013" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.[1744c>u,1702_1786del,1702_1914del]" "p.[Arg582Trp,Ser568fs,Ser568_Leu638del]" "13" "0000484340" "00000013" "90" "299" "0" "299" "0" "c.299A>G" "r.299a>g" "p.Tyr100Cys" "" "0000484341" "00000013" "90" "2350" "2" "2350" "2" "c.2350+2T>C" "r.2200_2350del" "p.Lys734fs" "" "0000484342" "00000013" "90" "1178" "0" "1178" "0" "c.1178dup" "r.0" "p.0" "" "0000484343" "00000013" "90" "1695" "0" "1695" "0" "c.1695C>A" "r.0" "p.0" "" "0000484344" "00000013" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.133c>u" "p.Arg445*" "" "0000484345" "00000013" "90" "1442" "0" "1442" "0" "c.1442A>G" "r.1442a>g" "p.Glu481Gly" "" "0000484346" "00000013" "90" "2275" "0" "2275" "0" "c.2275T>C" "r.2275c>u" "p.Cys759Arg" "" "0000484347" "00000013" "90" "1442" "-2" "1442" "-2" "c.1442-2A>G" "r.1442_1446del" "p.Glu481fs" "" "0000484348" "00000013" "90" "1767" "0" "1767" "0" "c.1767C>T" "r.1766_1786del" "p.Val590_Ser596del" "" "0000484349" "00000013" "90" "2658" "0" "2658" "0" "c.2658T>G" "r.(?)" "p.(Tyr886*)" "" "0000484351" "00000013" "90" "1915" "-11" "1915" "-11" "c.1915-11G>A" "r.1914_1915ins1915-9_1915-1" "p.Leu638_Glu639insProPro*" "" "0000484352" "00000013" "90" "115" "0" "115" "0" "c.115dup" "r.(?)" "p.(Gln39Profs*13)" "" "0000484354" "00000013" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000484355" "00000013" "90" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Gln766*)" "" "0000484356" "00000013" "90" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Pro689Ser)" "" "0000484357" "00000013" "90" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Arg771*)" "" "0000484358" "00000013" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Trp)" "" "0000484359" "00000013" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Trp)" "" "0000484360" "00000013" "90" "2092" "0" "2092" "0" "c.2092G>T" "r.(?)" "p.(Glu698*)" "" "0000484361" "00000013" "90" "172" "0" "172" "0" "c.172G>C" "r.(?)" "p.(Ala58Pro)" "" "0000484365" "00000013" "90" "3208" "-1" "3208" "-1" "c.3208-1G>A" "r.spl" "p.?" "" "0000484366" "00000013" "90" "1765" "0" "1765" "0" "c.1765G>A" "r.(?)" "p.(Gly589Ser)" "" "0000484367" "00000013" "90" "2787" "0" "2787" "0" "c.2787T>G" "r.(?)" "p.(Tyr929*)" "" "0000484368" "00000013" "90" "2961" "0" "2961" "0" "c.2961C>T" "r.2960_2978del" "p.Gln988fs" "" "0000484369" "00000013" "90" "108" "0" "108" "0" "c.108del" "r.(?)" "p.(Gln39Serfs*108)" "" "0000484372" "00000013" "90" "3069" "0" "3069" "0" "c.3069C>A" "r.(?)" "p.(Tyr1023*)" "" "0000484373" "00000013" "90" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Pro151Arg)" "" "0000484374" "00000013" "90" "3096" "2" "3096" "2" "c.3096+2T>A" "r.spl" "p.?" "" "0000484375" "00000013" "90" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Val722Ile)" "" "0000484376" "00000013" "90" "1333" "0" "1333" "0" "c.1333C>T" "r.(?)" "p.(Arg445*)" "" "0000484377" "00000013" "90" "2141" "0" "2141" "0" "c.2141C>T" "r.(?)" "p.(Thr714Met)" "" "0000484378" "00000013" "90" "394" "0" "394" "0" "c.394C>A" "r.(?)" "p.(Pro132Thr)" "" "0000484379" "00000013" "90" "1568" "0" "1568" "0" "c.1568G>A" "r.1568g>a" "p.Trp523*" "" "0000484381" "00000013" "90" "507" "0" "507" "0" "c.507C>A" "r.507c>a" "p.Asp169Glu" "" "0000484383" "00000013" "90" "2275" "0" "2275" "0" "c.2275T>C" "r.2275c>u" "p.Cys759Arg" "" "0000484384" "00000013" "90" "1442" "-1" "1786" "1" "c.(1441+1_1442-1)_(1786+1_1787-1)del" "r.?" "p.?" "" "0000484385" "00000013" "90" "2729" "0" "2729" "0" "c.2729T>C" "r.(?)" "p.(Leu910Ser)" "" "0000484386" "00000013" "90" "2680" "3" "2680" "3" "c.2680+3G>C" "r.spl?" "p.?" "" "0000484387" "00000013" "90" "3072" "0" "3072" "0" "c.3072del" "r.(?)" "p.(Cys1024Trpfs*14)" "" "0000484388" "00000013" "90" "1787" "-1" "1787" "-1" "c.1787-1G>A" "r.spl" "p.?" "" "0000484389" "00000013" "90" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Glu694Lys)" "" "0000484390" "00000013" "90" "171" "0" "173" "0" "c.171_173del" "r.171_173del" "p.Ala58del" "" "0000484391" "00000013" "90" "2164" "0" "2164" "0" "c.2164G>A" "r.2164g>a" "p.Val722Ile" "" "0000484392" "00000013" "90" "3011" "0" "3013" "0" "c.3011_3013del" "r.(?)" "p.(Phe1004del)" "" "0000484393" "00000013" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Trp)" "" "0000566568" "00000013" "30" "2746" "0" "2746" "0" "c.2746C>T" "r.(?)" "p.(Arg916Trp)" "" "0000566569" "00000013" "30" "2740" "0" "2740" "0" "c.2740C>T" "r.(?)" "p.(Leu914=)" "" "0000566570" "00000013" "50" "2660" "0" "2660" "0" "c.2660G>A" "r.(?)" "p.(Arg887His)" "" "0000566571" "00000013" "50" "2518" "0" "2518" "0" "c.2518C>T" "r.(?)" "p.(Arg840Cys)" "" "0000566572" "00000013" "30" "2235" "0" "2235" "0" "c.2235G>A" "r.(?)" "p.(Pro745=)" "" "0000566573" "00000013" "30" "2235" "0" "2235" "0" "c.2235G>A" "r.(?)" "p.(Pro745=)" "" "0000566574" "00000013" "30" "2095" "0" "2095" "0" "c.2095G>T" "r.(?)" "p.(Ala699Ser)" "" "0000566575" "00000013" "30" "1752" "0" "1752" "0" "c.1752C>T" "r.(?)" "p.(Leu584=)" "" "0000566576" "00000013" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Leu527=)" "" "0000566577" "00000013" "30" "1551" "0" "1551" "0" "c.1551T>A" "r.(?)" "p.(Pro517=)" "" "0000566578" "00000013" "30" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451Gln)" "" "0000566579" "00000013" "90" "1345" "0" "1345" "0" "c.1345dup" "r.(?)" "p.(Ser449LysfsTer71)" "" "0000566581" "00000013" "30" "744" "0" "744" "0" "c.744C>G" "r.(?)" "p.(Ala248=)" "" "0000566582" "00000013" "50" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Val217=)" "" "0000566583" "00000013" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Asp144Asn)" "" "0000566584" "00000013" "30" "394" "0" "394" "0" "c.394C>A" "r.(?)" "p.(Pro132Thr)" "" "0000566585" "00000013" "50" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Cys)" "" "0000566586" "00000013" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Phe118=)" "" "0000566587" "00000013" "30" "252" "0" "252" "0" "c.252G>A" "r.(?)" "p.(Pro84=)" "" "0000566588" "00000013" "30" "252" "0" "252" "0" "c.252G>A" "r.(?)" "p.(Pro84=)" "" "0000566589" "00000013" "30" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000566590" "00000013" "50" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000566591" "00000013" "90" "115" "0" "115" "0" "c.115del" "r.(?)" "p.(Gln39SerfsTer108)" "" "0000617456" "00000013" "90" "3208" "-1" "3208" "-1" "c.3208-1G>A" "r.spl?" "p.?" "" "0000617457" "00000013" "30" "2625" "0" "2625" "0" "c.2625C>T" "r.(?)" "p.(Leu875=)" "" "0000623955" "00000013" "30" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(Lys361=)" "" "0000623956" "00000013" "70" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Glu287ArgfsTer13)" "" "0000623957" "00000013" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "" "0000649920" "00000013" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" "" "0000658523" "00000013" "90" "3208" "-1" "3208" "-1" "c.3208-1G>A" "r.spl?" "p.?" "" "0000658524" "00000013" "90" "3208" "-1" "3208" "-1" "c.3208-1G>A" "r.spl?" "p.?" "" "0000658525" "00000013" "30" "1453" "0" "1453" "0" "c.1453C>T" "r.(?)" "p.(Leu485=)" "" "0000673614" "00000013" "70" "3050" "0" "3050" "0" "c.3050T>C" "r.(?)" "p.(Leu1017Pro)" "" "0000673615" "00000013" "90" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Trp)" "" "0000675214" "00000013" "70" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Gln807*)" "" "0000681333" "00000013" "30" "2772" "0" "2772" "0" "c.2772C>T" "r.(?)" "p.(Ser924=)" "" "0000681334" "00000013" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Leu258=)" "" "0000681335" "00000013" "30" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Pro151Arg)" "" "0000682770" "00000013" "70" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Gln807*)" "" "0000692720" "00000013" "30" "9632" "0" "9632" "0" "c.*6257G>A" "r.(=)" "p.(=)" "" "0000734008" "00000013" "50" "1493" "0" "1493" "0" "c.1493C>A" "r.(?)" "p.(Ser498Tyr)" "" "0000734025" "00000013" "50" "2062" "0" "2062" "0" "c.2062A>T" "r.(?)" "p.(Ile688Phe)" "" "0000734029" "00000013" "50" "115" "0" "115" "0" "c.115del" "r.(?)" "p.(Gln39Serfs*108)" "" "0000734649" "00000013" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222His)" "" "0000734990" "00000013" "50" "2062" "0" "2062" "0" "c.2062A>T" "r.(?)" "p.(Ile688Phe)" "" "0000735309" "00000013" "50" "2854" "0" "2854" "0" "c.2854G>T" "r.(?)" "p.(Ala952Ser)" "" "0000735513" "00000013" "50" "2716" "0" "2716" "0" "c.2716C>A" "r.(?)" "p.(Pro906Thr)" "" "0000735537" "00000013" "50" "2062" "0" "2062" "0" "c.2062A>T" "r.(?)" "p.(Ile688Phe)" "" "0000808761" "00000013" "30" "3300" "0" "3300" "0" "c.3300C>T" "r.(?)" "p.(Ser1100=)" "" "0000808762" "00000013" "50" "2773" "0" "2773" "0" "c.2773C>A" "r.(?)" "p.(Arg925Ser)" "" "0000808763" "00000013" "90" "2350" "1" "2350" "1" "c.2350+1G>T" "r.spl?" "p.?" "" "0000808764" "00000013" "30" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Ala560Thr)" "" "0000808765" "00000013" "30" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451Gln)" "" "0000815869" "00000013" "70" "2141" "0" "2141" "0" "c.2141C>T" "r.(?)" "p.(Thr714Met)" "" "0000855486" "00000013" "30" "3268" "0" "3268" "0" "c.3268G>A" "r.(?)" "p.(Ala1090Thr)" "" "0000865956" "00000013" "30" "3096" "8" "3096" "8" "c.3096+8G>A" "r.(=)" "p.(=)" "" "0000865957" "00000013" "30" "2763" "0" "2763" "0" "c.2763C>G" "r.(?)" "p.(Leu921=)" "" "0000894865" "00000013" "30" "2773" "0" "2773" "0" "c.2773C>A" "r.(?)" "p.(Arg925Ser)" "" "0000894866" "00000013" "30" "2660" "0" "2660" "0" "c.2660G>A" "r.(?)" "p.(Arg887His)" "" "0000894867" "00000013" "30" "2491" "-8" "2491" "-8" "c.2491-8T>C" "r.(=)" "p.(=)" "" "0000894868" "00000013" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(His377=)" "" "0000920262" "00000013" "50" "1924" "0" "1924" "0" "c.1924G>C" "r.(?)" "p.(Gly642Arg)" "15" "0000920320" "00000013" "90" "1695" "0" "1695" "0" "c.1695C>A" "r.(?)" "p.(Cys565Ter)" "12" "0000920345" "00000013" "50" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Pro151Arg)" "5" "0000920364" "00000013" "90" "1837" "0" "1837" "0" "c.1837C>T" "r.(?)" "p.(Arg613Ter)" "14" "0000926840" "00000013" "30" "2350" "19" "2350" "19" "c.2350+19T>G" "r.(=)" "p.(=)" "" "0000931022" "00000013" "30" "2423" "0" "2423" "0" "c.2423T>C" "r.(?)" "p.(Leu808Pro)" "" "0000931023" "00000013" "10" "1442" "-5" "1442" "-5" "c.1442-5C>T" "r.spl?" "p.?" "" "0000951249" "00000013" "30" "3282" "0" "3282" "0" "c.3282G>A" "r.(?)" "p.(=)" "" "0000951250" "00000013" "30" "2350" "14" "2350" "14" "c.2350+14C>G" "r.(=)" "p.(=)" "" "0000951251" "00000013" "30" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(=)" "" "0000951252" "00000013" "30" "1254" "20" "1254" "20" "c.1254+20G>A" "r.(=)" "p.(=)" "" "0000951253" "00000013" "30" "744" "0" "744" "0" "c.744C>G" "r.(?)" "p.(Ala248=)" "" "0000951254" "00000013" "30" "308" "16" "308" "16" "c.308+16dup" "r.(=)" "p.(=)" "" "0000983309" "00000013" "30" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Leu1073Phe)" "" "0000983310" "00000013" "30" "2773" "0" "2773" "0" "c.2773C>A" "r.(?)" "p.(Arg925Ser)" "" "0000983311" "00000013" "50" "2731" "0" "2731" "0" "c.2731C>A" "r.(?)" "p.(Arg911Ser)" "" "0000983312" "00000013" "50" "2630" "0" "2630" "0" "c.2630C>T" "r.(?)" "p.(Ala877Val)" "" "0000983313" "00000013" "50" "2518" "0" "2518" "0" "c.2518C>T" "r.(?)" "p.(Arg840Cys)" "" "0000983314" "00000013" "50" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Tyr399Cys)" "" "0001004508" "00000013" "50" "1781" "0" "1781" "0" "c.1781G>C" "r.(?)" "p.(Gly594Ala)" "" "0001027193" "00000013" "70" "1204" "0" "1204" "0" "c.1204C>G" "r.(?)" "p.(Arg402Gly)" "" "0001027194" "00000013" "10" "452" "0" "452" "0" "c.452C>G" "r.(?)" "p.(Pro151Arg)" "" "0001042789" "00000013" "30" "2164" "0" "2164" "0" "c.2164G>A" "r.(?)" "p.(Val722Ile)" "" "0001042790" "00000013" "30" "2046" "0" "2046" "0" "c.2046G>A" "r.(?)" "p.(=)" "" "0001042791" "00000013" "30" "984" "4" "984" "4" "c.984+4G>A" "r.spl?" "p.?" "" "0001042792" "00000013" "10" "394" "0" "394" "0" "c.394C>A" "r.(?)" "p.(Pro132Thr)" "" "0001046725" "00000013" "70" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Gly712Ser)" "" "0001046726" "00000013" "70" "859" "0" "859" "0" "c.859del" "r.(?)" "p.(Glu287ArgfsTer13)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{variantid}}" "0000000028" "0000000760" "0000000042" "0000000761" "0000150962" "0000244108" "0000150963" "0000244109" "0000240301" "0000484339" "0000240302" "0000484340" "0000240303" "0000484341" "0000240304" "0000484342" "0000240304" "0000484343" "0000240305" "0000484344" "0000240305" "0000484383" "0000240306" "0000484345" "0000240306" "0000484384" "0000240307" "0000484346" "0000240308" "0000484347" "0000240309" "0000484348" "0000240310" "0000484349" "0000240310" "0000484392" "0000240312" "0000484351" "0000240313" "0000484352" "0000240313" "0000484393" "0000240315" "0000484354" "0000240315" "0000484386" "0000240316" "0000484355" "0000240317" "0000484356" "0000240318" "0000484357" "0000240319" "0000484358" "0000240319" "0000484389" "0000240320" "0000484359" "0000240321" "0000484360" "0000240321" "0000484388" "0000240322" "0000484361" "0000240322" "0000484387" "0000240326" "0000484365" "0000240327" "0000484366" "0000240328" "0000484367" "0000240329" "0000484368" "0000240329" "0000484391" "0000240330" "0000484369" "0000240333" "0000484372" "0000240333" "0000484385" "0000240334" "0000484373" "0000240335" "0000484374" "0000240336" "0000484375" "0000240337" "0000484376" "0000240338" "0000484377" "0000240339" "0000484378" "0000240340" "0000484379" "0000240342" "0000484381" "0000240342" "0000484390" "0000293231" "0000649920" "0000307070" "0000673614" "0000307070" "0000673615" "0000308287" "0000675214" "0000308404" "0000682770" "0000335533" "0000734008" "0000335539" "0000734025" "0000335541" "0000734029" "0000335772" "0000734649" "0000336072" "0000734990" "0000336175" "0000735309" "0000336266" "0000735513" "0000336271" "0000735537" "0000387735" "0000815869" "0000434507" "0000920262" "0000434507" "0000920345" "0000434568" "0000920320" "0000434568" "0000920364"