### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TYK2) # 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}}" "TYK2" "tyrosine kinase 2" "19" "p13.2" "unknown" "NG_007872.1" "UD_132118733865" "" "https://www.LOVD.nl/TYK2" "" "1" "12440" "7297" "176941" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-14 23:43:32" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022189" "TYK2" "tyrosine kinase 2" "001" "NM_003331.4" "" "NP_003322.3" "" "" "" "-378" "3870" "3564" "10491248" "10461204" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03037" "IMD35" "i mmunodeficiency, type 35 (IMD-35, tyrosine kinase 2 deficiency)" "AR" "611521" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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}}" "TYK2" "03037" ## Individuals ## Do not remove or alter this header ## ## Count = 38 "{{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}}" "00105012" "" "" "" "2" "" "00006" "{PMID:Bee 2015:25872942}, {DOI:Bee 2015:10.15252/emmm.201404803}" "2-generation family, affected twin brothers, unaffected heterozygous carrier parents/sister" "M" "yes" "Italy" "" "0" "" "" "" "25872942-Fam" "00292016" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292017" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292018" "" "" "" "53" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292019" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304641" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00334285" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334289" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334299" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334304" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334307" "" "" "" "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" "" "" "" "" "" "" "00334324" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334326" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334356" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334359" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334361" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334363" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334369" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334371" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334376" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334395" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334396" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334480" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334535" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334545" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334546" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334845" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334848" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334850" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334879" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334901" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334923" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334924" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335017" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335019" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335040" "" "" "" "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" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00105012" "00198" "00292016" "00198" "00292017" "00198" "00292018" "00198" "00292019" "00198" "00304641" "00198" "00334285" "05793" "00334289" "05793" "00334299" "05793" "00334304" "05793" "00334307" "05793" "00334313" "05793" "00334324" "05793" "00334326" "05793" "00334356" "05793" "00334359" "05793" "00334361" "05793" "00334363" "05793" "00334369" "05793" "00334371" "05793" "00334376" "05793" "00334395" "05793" "00334396" "05793" "00334480" "05793" "00334535" "05793" "00334545" "05793" "00334546" "05793" "00334845" "05793" "00334848" "05793" "00334850" "05793" "00334879" "05793" "00334901" "05793" "00334923" "05793" "00334924" "05793" "00335017" "05793" "00335019" "05793" "00335040" "05793" "00335042" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03037, 05793 ## Count = 33 "{{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}}" "0000082903" "00198" "00105012" "00006" "Familial, autosomal recessive" "" "adult-onset progressive encephalocardiomyopathy; see paper; ...; birth-bilateral cryptorchidism, malformations; early adulthood-slowly progressive neurological syndrome, with cerebellar/pyramidal signs, cognitive impairment, depression, dilating cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000253095" "05793" "00334285" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253099" "05793" "00334289" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253109" "05793" "00334299" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253114" "05793" "00334304" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253117" "05793" "00334307" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253123" "05793" "00334313" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253134" "05793" "00334324" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253136" "05793" "00334326" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253151" "05793" "00334356" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253154" "05793" "00334359" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253156" "05793" "00334361" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253158" "05793" "00334363" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253164" "05793" "00334369" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253166" "05793" "00334371" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253170" "05793" "00334376" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253178" "05793" "00334395" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253179" "05793" "00334396" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253193" "05793" "00334480" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253225" "05793" "00334535" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253235" "05793" "00334545" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253236" "05793" "00334546" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253242" "05793" "00334845" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253245" "05793" "00334848" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253247" "05793" "00334850" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253270" "05793" "00334879" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253271" "05793" "00334901" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253275" "05793" "00334923" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253276" "05793" "00334924" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253299" "05793" "00335017" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253301" "05793" "00335019" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253322" "05793" "00335040" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253324" "05793" "00335042" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" ## Screenings ## Do not remove or alter this header ## ## Count = 38 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105485" "00105012" "1" "00006" "00006" "2017-06-14 23:28:11" "" "" "SEQ" "DNA" "" "WES" "0000293184" "00292016" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293185" "00292017" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293186" "00292018" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293187" "00292019" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305770" "00304641" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335511" "00334285" "1" "04011" "04011" "2021-02-27 03:05:45" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335515" "00334289" "1" "04011" "04011" "2021-02-27 03:31:51" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335526" "00334299" "1" "04011" "04011" "2021-02-27 06:15:53" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335532" "00334304" "1" "04011" "04011" "2021-02-27 06:42:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335535" "00334307" "1" "04011" "04011" "2021-02-27 07:02:54" "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" "0000335552" "00334324" "1" "04011" "04011" "2021-02-27 14:24:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335554" "00334326" "1" "04011" "04011" "2021-02-27 14:56:08" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335584" "00334356" "1" "04011" "04011" "2021-02-28 05:02:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335587" "00334359" "1" "04011" "04011" "2021-02-28 05:10:21" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335589" "00334361" "1" "04011" "04011" "2021-02-28 05:19:20" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335591" "00334363" "1" "04011" "04011" "2021-02-28 05:29:57" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335597" "00334369" "1" "04011" "04011" "2021-02-28 08:45:48" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335599" "00334371" "1" "04011" "04011" "2021-02-28 08:59:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335604" "00334376" "1" "04011" "04011" "2021-02-28 10:56:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335624" "00334395" "1" "04011" "04011" "2021-02-28 12:10:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335625" "00334396" "1" "04011" "04011" "2021-02-28 12:46:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335709" "00334480" "1" "04011" "04011" "2021-03-01 03:09:01" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335764" "00334535" "1" "04011" "04011" "2021-03-01 12:52:18" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335774" "00334545" "1" "04011" "04011" "2021-03-01 14:26:33" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335775" "00334546" "1" "04011" "04011" "2021-03-01 14:30:48" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336074" "00334845" "1" "04011" "04011" "2021-03-02 02:04:55" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336077" "00334848" "1" "04011" "04011" "2021-03-02 03:07:30" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336078" "00334850" "1" "04011" "04011" "2021-03-02 03:15:23" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336108" "00334879" "1" "04011" "04011" "2021-03-02 09:52:28" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336130" "00334901" "1" "04011" "04011" "2021-03-02 12:22:31" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336153" "00334923" "1" "04011" "04011" "2021-03-02 13:30:26" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336155" "00334924" "1" "04011" "04011" "2021-03-02 13:32:04" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336246" "00335017" "1" "04011" "04011" "2021-03-03 02:58:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336248" "00335019" "1" "04011" "04011" "2021-03-03 03:07:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336269" "00335040" "1" "04011" "04011" "2021-03-03 06:32:56" "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" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000105485" "XRCC4" ## 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 = 115 "{{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}}" "0000170914" "3" "50" "19" "10475315" "10475315" "subst" "0.000110177" "00006" "TYK2_000001" "g.10475315G>A" "" "{PMID:Bee 2015:25872942}, {DOI:Bee 2015:10.15252/emmm.201404803}" "" "" "" "Germline" "" "" "0" "" "" "g.10364639G>A" "" "VUS" "" "0000249242" "0" "10" "19" "10472933" "10472933" "subst" "0.499813" "02325" "TYK2_000014" "g.10472933A>G" "" "" "" "TYK2(NM_003331.5):c.1669+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10362257A>G" "" "benign" "" "0000249243" "0" "10" "19" "10473138" "10473138" "subst" "0.262686" "02325" "TYK2_000015" "g.10473138A>G" "" "" "" "TYK2(NM_003331.5):c.1477-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10362462A>G" "" "benign" "" "0000250811" "0" "30" "19" "10489039" "10489039" "subst" "0.000985532" "02326" "TYK2_000023" "g.10489039A>G" "" "" "" "TYK2(NM_003331.4):c.44T>C (p.V15A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10378363A>G" "" "likely benign" "" "0000251048" "0" "10" "19" "10472557" "10472557" "subst" "0.0057291" "02326" "TYK2_000010" "g.10472557A>C" "" "" "" "TYK2(NM_003331.4):c.1848T>G (p.P616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10361881A>C" "" "benign" "" "0000252313" "0" "30" "19" "10471789" "10471789" "subst" "0" "02326" "TYK2_000009" "g.10471789A>T" "" "" "" "TYK2(NM_003331.4):c.2047+398T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10361113A>T" "" "likely benign" "" "0000254030" "0" "30" "19" "10489039" "10489039" "subst" "0.000985532" "01943" "TYK2_000023" "g.10489039A>G" "" "" "" "TYK2(NM_003331.4):c.44T>C (p.V15A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10378363A>G" "" "likely benign" "" "0000312922" "0" "10" "19" "10468668" "10468668" "subst" "0.119497" "02325" "TYK2_000008" "g.10468668C>G" "" "" "" "TYK2(NM_003331.5):c.2311+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10357992C>G" "" "benign" "" "0000315165" "0" "30" "19" "10473300" "10473300" "subst" "0.00029444" "02326" "TYK2_000016" "g.10473300C>T" "" "" "" "TYK2(NM_003331.4):c.1401G>A (p.E467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10362624C>T" "" "likely benign" "" "0000315166" "0" "30" "19" "10488926" "10488926" "subst" "0.00742798" "02326" "TYK2_000022" "g.10488926C>T" "" "" "" "TYK2(NM_003331.4):c.157G>A (p.A53T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10378250C>T" "" "likely benign" "" "0000315167" "0" "30" "19" "10472876" "10472876" "subst" "0.00143989" "02326" "TYK2_000013" "g.10472876T>C" "" "" "" "TYK2(NM_003331.4):c.1670-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10362200T>C" "" "likely benign" "" "0000315168" "0" "10" "19" "10472635" "10472635" "subst" "0.0106314" "02326" "TYK2_000012" "g.10472635C>G" "" "" "" "TYK2(NM_003331.4):c.1774-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10361959C>G" "" "benign" "" "0000315169" "0" "30" "19" "10463118" "10463118" "subst" "0.0269479" "02326" "TYK2_000004" "g.10463118G>C" "" "" "" "TYK2(NM_003331.4):c.3310C>G (p.P1104A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10352442G>C" "" "likely benign" "" "0000315170" "0" "10" "19" "10477132" "10477132" "subst" "0.0022096" "02326" "TYK2_000020" "g.10477132C>T" "" "" "" "TYK2(NM_003331.4):c.590G>A (p.R197H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10366456C>T" "" "benign" "" "0000315171" "0" "30" "19" "10476415" "10476415" "subst" "4.14707E-5" "02326" "TYK2_000018" "g.10476415G>A" "" "" "" "TYK2(NM_003331.4):c.789C>T (p.L263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10365739G>A" "" "likely benign" "" "0000319169" "0" "30" "19" "10472571" "10472571" "subst" "1.2193E-5" "01943" "TYK2_000011" "g.10472571C>T" "" "" "" "TYK2(NM_003331.4):c.1834G>A (p.G612S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10361895C>T" "" "likely benign" "" "0000319170" "0" "50" "19" "10467392" "10467392" "subst" "0" "01943" "TYK2_000007" "g.10467392C>G" "" "" "" "TYK2(NM_003331.4):c.2469G>C (p.K823N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10356716C>G" "" "VUS" "" "0000319171" "0" "30" "19" "10465233" "10465233" "subst" "0.000166491" "01943" "TYK2_000006" "g.10465233C>G" "" "" "" "TYK2(NM_003331.4):c.2670G>C (p.T890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10354557C>G" "" "likely benign" "" "0000319172" "0" "30" "19" "10463616" "10463616" "subst" "0" "01943" "TYK2_000005" "g.10463616G>T" "" "" "" "TYK2(NM_003331.4):c.3186C>A (p.D1062E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10352940G>T" "" "likely benign" "" "0000319173" "0" "10" "19" "10461586" "10461586" "subst" "0.00602194" "01943" "TYK2_000003" "g.10461586T>C" "" "" "" "TYK2(NM_003331.4):c.3488A>G (p.E1163G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10350910T>C" "" "benign" "" "0000319174" "0" "50" "19" "10461514" "10461514" "subst" "8.93815E-5" "01943" "TYK2_000002" "g.10461514C>T" "" "" "" "TYK2(NM_003331.4):c.3560G>A (p.C1187Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10350838C>T" "" "VUS" "" "0000319175" "0" "30" "19" "10477245" "10477245" "subst" "0" "01943" "TYK2_000021" "g.10477245C>T" "" "" "" "TYK2(NM_003331.4):c.477G>A (p.E159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10366569C>T" "" "likely benign" "" "0000319176" "0" "30" "19" "10476556" "10476556" "subst" "0.000262692" "01943" "TYK2_000019" "g.10476556C>T" "" "" "" "TYK2(NM_003331.4):c.648G>A (p.P216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10365880C>T" "" "likely benign" "" "0000319177" "0" "30" "19" "10476325" "10476325" "subst" "4.49343E-5" "01943" "TYK2_000017" "g.10476325G>A" "" "" "" "TYK2(NM_003331.4):c.879C>T (p.I293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10365649G>A" "" "likely benign" "" "0000336946" "0" "30" "19" "10472933" "10472933" "subst" "0.499813" "02327" "TYK2_000014" "g.10472933A>G" "" "" "" "TYK2(NM_003331.5):c.1669+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10362257A>G" "" "likely benign" "" "0000350508" "0" "30" "19" "10475652" "10475652" "subst" "0.273644" "02327" "TYK2_000024" "g.10475652C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10364976C>A" "" "likely benign" "" "0000565571" "0" "30" "19" "10463113" "10463113" "subst" "0.000119875" "01943" "TYK2_000025" "g.10463113G>C" "" "" "" "TYK2(NM_003331.4):c.3315C>G (p.P1105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10352437G>C" "" "likely benign" "" "0000565572" "0" "10" "19" "10463118" "10463118" "subst" "0.0269479" "02327" "TYK2_000004" "g.10463118G>C" "" "" "" "TYK2(NM_003331.4):c.3310C>G (p.P1104A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10352442G>C" "" "benign" "" "0000565573" "0" "30" "19" "10468740" "10468740" "subst" "0.00103591" "01943" "TYK2_000026" "g.10468740G>A" "" "" "" "TYK2(NM_003331.4):c.2250C>T (p.G750=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10358064G>A" "" "likely benign" "" "0000565576" "0" "50" "19" "10469919" "10469919" "subst" "0.00705847" "02327" "TYK2_000027" "g.10469919G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10359243G>A" "" "VUS" "" "0000565577" "0" "30" "19" "10469965" "10469965" "subst" "1.64401E-5" "01943" "TYK2_000028" "g.10469965T>C" "" "" "" "TYK2(NM_003331.4):c.2061A>G (p.T687=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10359289T>C" "" "likely benign" "" "0000565578" "0" "30" "19" "10472198" "10472198" "subst" "0.000182029" "01943" "TYK2_000029" "g.10472198C>G" "" "" "" "TYK2(NM_003331.4):c.2036G>C (p.R679P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10361522C>G" "" "likely benign" "" "0000565579" "0" "50" "19" "10472598" "10472598" "subst" "0.000300837" "01943" "TYK2_000030" "g.10472598C>T" "" "" "" "TYK2(NM_003331.4):c.1807G>A (p.V603M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10361922C>T" "" "VUS" "" "0000565580" "0" "30" "19" "10472936" "10472936" "subst" "9.35165E-5" "01943" "TYK2_000031" "g.10472936G>A" "" "" "" "TYK2(NM_003331.4):c.1669+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10362260G>A" "" "likely benign" "" "0000565581" "0" "10" "19" "10473138" "10473138" "subst" "0.262686" "02327" "TYK2_000015" "g.10473138A>G" "" "" "" "TYK2(NM_003331.5):c.1477-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10362462A>G" "" "benign" "" "0000565582" "0" "50" "19" "10475332" "10475332" "subst" "6.92589E-5" "01943" "TYK2_000032" "g.10475332C>T" "" "" "" "TYK2(NM_003331.4):c.1325G>A (p.R442Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10364656C>T" "" "VUS" "" "0000565583" "0" "30" "19" "10476187" "10476187" "subst" "0" "01943" "TYK2_000033" "g.10476187G>A" "" "" "" "TYK2(NM_003331.4):c.1011+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10365511G>A" "" "likely benign" "" "0000565584" "0" "30" "19" "10476394" "10476394" "subst" "0.000120585" "01943" "TYK2_000034" "g.10476394G>A" "" "" "" "TYK2(NM_003331.4):c.810C>T (p.F270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10365718G>A" "" "likely benign" "" "0000565585" "0" "50" "19" "10476555" "10476555" "subst" "0.000110096" "01943" "TYK2_000035" "g.10476555G>A" "" "" "" "TYK2(NM_003331.4):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10365879G>A" "" "VUS" "" "0000565586" "0" "10" "19" "10477206" "10477206" "subst" "0.0723156" "02327" "TYK2_000036" "g.10477206G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10366530G>A" "" "benign" "" "0000565587" "0" "30" "19" "10477209" "10477209" "subst" "0.000552239" "01943" "TYK2_000037" "g.10477209C>T" "" "" "" "TYK2(NM_003331.4):c.513G>A (p.S171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10366533C>T" "" "likely benign" "" "0000617284" "0" "50" "19" "10464771" "10464771" "subst" "0" "01943" "TYK2_000038" "g.10464771C>G" "" "" "" "TYK2(NM_003331.4):c.2855G>C (p.R952P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10354095C>G" "" "VUS" "" "0000617285" "0" "30" "19" "10475421" "10475421" "subst" "0.000126406" "01943" "TYK2_000039" "g.10475421C>T" "" "" "" "TYK2(NM_003331.4):c.1236G>A (p.A412=), TYK2(NM_003331.5):c.1236G>A (p.(Ala412=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10364745C>T" "" "likely benign" "" "0000649873" "1" "30" "19" "10464843" "10464843" "subst" "0.00464202" "03575" "TYK2_000040" "g.10464843G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs35018800}" "Germline" "" "rs35018800" "0" "" "" "g.10354167G>A" "" "likely benign" "" "0000649874" "1" "30" "19" "10469919" "10469919" "subst" "0.00705847" "03575" "TYK2_000027" "g.10469919G>A" "24/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs55882956}" "Germline" "" "rs55882956" "0" "" "" "g.10359243G>A" "" "likely benign" "" "0000649875" "1" "30" "19" "10469975" "10469975" "subst" "0.0607669" "03575" "TYK2_000041" "g.10469975A>C" "53/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "53 heterozygous; {DB:CLININrs12720356}" "Germline" "" "rs12720356" "0" "" "" "g.10359299A>C" "" "likely benign" "" "0000649876" "1" "10" "19" "10472452" "10472452" "subst" "0.00961233" "03575" "TYK2_000042" "g.10472452G>A" "35/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs12720355}" "Germline" "" "rs12720355" "0" "" "" "g.10361776G>A" "" "benign" "" "0000658446" "0" "30" "19" "10464317" "10464317" "subst" "0" "02326" "TYK2_000043" "g.10464317T>G" "" "" "" "TYK2(NM_003331.4):c.2914A>C (p.K972Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10353641T>G" "" "likely benign" "" "0000658447" "0" "30" "19" "10473033" "10473033" "subst" "0.000170929" "01943" "TYK2_000044" "g.10473033C>T" "" "" "" "TYK2(NM_003331.4):c.1576G>A (p.V526I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10362357C>T" "" "likely benign" "" "0000658448" "0" "50" "19" "10475654" "10475654" "subst" "1.22161E-5" "01943" "TYK2_000045" "g.10475654G>A" "" "" "" "TYK2(NM_003331.4):c.1082C>T (p.A361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10364978G>A" "" "VUS" "" "0000669458" "3" "30" "19" "10469975" "10469975" "subst" "0.0607669" "03575" "TYK2_000041" "g.10469975A>C" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs12720356}" "Germline" "" "rs12720356" "0" "" "" "g.10359299A>C" "" "likely benign" "" "0000681224" "0" "50" "19" "10472480" "10472480" "subst" "4.06517E-6" "01943" "TYK2_000046" "g.10472480T>C" "" "" "" "TYK2(NM_003331.4):c.1925A>G (p.K642R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681225" "0" "30" "19" "10476495" "10476495" "subst" "9.22355E-5" "02326" "TYK2_000047" "g.10476495C>T" "" "" "" "TYK2(NM_003331.4):c.709G>A (p.V237I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692640" "0" "30" "19" "10468549" "10468549" "subst" "1.22173E-5" "01943" "TYK2_000048" "g.10468549C>T" "" "" "" "TYK2(NM_003331.4):c.2357G>A (p.G786D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727037" "0" "30" "19" "10461613" "10461613" "subst" "4.06062E-6" "01943" "TYK2_000049" "g.10461613G>A" "" "" "" "TYK2(NM_003331.4):c.3461C>T (p.T1154I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727038" "0" "30" "19" "10461785" "10461785" "subst" "2.43647E-5" "01943" "TYK2_000050" "g.10461785G>C" "" "" "" "TYK2(NM_003331.4):c.3372C>G (p.L1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727039" "0" "30" "19" "10465233" "10465233" "subst" "0.000166491" "02326" "TYK2_000006" "g.10465233C>G" "" "" "" "TYK2(NM_003331.4):c.2670G>C (p.T890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727040" "0" "30" "19" "10472199" "10472199" "subst" "6.99154E-5" "01943" "TYK2_000051" "g.10472199G>A" "" "" "" "TYK2(NM_003331.4):c.2035C>T (p.R679C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733925" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733945" "0" "70" "19" "10469924" "10469924" "subst" "0.000259106" "04011" "TYK2_000052" "g.10469924C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733984" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734005" "0" "70" "19" "10476396" "10476396" "subst" "2.0761E-5" "04011" "TYK2_000056" "g.10476396A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734015" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734032" "0" "70" "19" "10475580" "10475580" "subst" "0.000101556" "04011" "TYK2_000055" "g.10475580C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734071" "0" "70" "19" "10472988" "10472988" "subst" "6.91209E-5" "04011" "TYK2_000054" "g.10472988C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734080" "0" "70" "19" "10469924" "10469924" "subst" "0.000259106" "04011" "TYK2_000052" "g.10469924C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734171" "0" "70" "19" "10472196" "10472196" "subst" "5.60908E-5" "04011" "TYK2_000053" "g.10472196C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734179" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734186" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734212" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734228" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734244" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734289" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734293" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734440" "0" "70" "19" "10472988" "10472988" "subst" "6.91209E-5" "04011" "TYK2_000054" "g.10472988C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734618" "0" "70" "19" "10472988" "10472988" "subst" "6.91209E-5" "04011" "TYK2_000054" "g.10472988C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734659" "0" "70" "19" "10472988" "10472988" "subst" "6.91209E-5" "04011" "TYK2_000054" "g.10472988C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734668" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735002" "0" "70" "19" "10469924" "10469924" "subst" "0.000259106" "04011" "TYK2_000052" "g.10469924C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735023" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735031" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735048" "0" "70" "19" "10469924" "10469924" "subst" "0.000259106" "04011" "TYK2_000052" "g.10469924C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735153" "0" "70" "19" "10472598" "10472598" "subst" "0.000300837" "04011" "TYK2_000030" "g.10472598C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735201" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735248" "0" "70" "19" "10469924" "10469924" "subst" "0.000259106" "04011" "TYK2_000052" "g.10469924C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735259" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735440" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735446" "0" "70" "19" "10473233" "10473233" "subst" "6.51466E-5" "04011" "TYK2_000057" "g.10473233G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735532" "0" "70" "19" "10469919" "10469919" "subst" "0.00705847" "04011" "TYK2_000027" "g.10469919G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735542" "0" "70" "19" "10469924" "10469924" "subst" "0.000259106" "04011" "TYK2_000052" "g.10469924C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000808602" "0" "30" "19" "10463242" "10463242" "dup" "0" "01943" "TYK2_000058" "g.10463242dup" "" "" "" "TYK2(NM_003331.4):c.3201-10dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808603" "0" "30" "19" "10464250" "10464250" "subst" "0" "01943" "TYK2_000059" "g.10464250C>T" "" "" "" "TYK2(NM_003331.4):c.2981G>A (p.S994N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808604" "0" "30" "19" "10488958" "10488958" "subst" "0" "01943" "TYK2_000060" "g.10488958G>T" "" "" "" "TYK2(NM_003331.4):c.125C>A (p.P42H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808605" "0" "30" "19" "10490472" "10490472" "subst" "0" "02326" "TYK2_000061" "g.10490472C>A" "" "" "" "TYK2(NM_003331.4):c.-185-17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855388" "0" "30" "19" "10461854" "10461854" "subst" "0" "02326" "TYK2_000062" "g.10461854G>A" "" "" "" "TYK2(NM_003331.4):c.3319-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865772" "0" "30" "19" "10476262" "10476262" "subst" "0.00263922" "02326" "TYK2_000063" "g.10476262G>A" "" "" "" "TYK2(NM_003331.4):c.942C>T (p.H314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865773" "0" "30" "19" "10476555" "10476555" "subst" "0.000110096" "02326" "TYK2_000035" "g.10476555G>A" "" "" "" "TYK2(NM_003331.4):c.649C>T (p.R217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894668" "0" "30" "19" "10461514" "10461514" "subst" "8.93815E-5" "02326" "TYK2_000002" "g.10461514C>T" "" "" "" "TYK2(NM_003331.4):c.3560G>A (p.C1187Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894669" "0" "30" "19" "10461519" "10461519" "subst" "0.000105641" "02327" "TYK2_000064" "g.10461519G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894670" "0" "10" "19" "10468668" "10468668" "subst" "0.119497" "02327" "TYK2_000008" "g.10468668C>G" "" "" "" "TYK2(NM_003331.5):c.2311+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894671" "0" "10" "19" "10475649" "10475649" "subst" "0.0624644" "02327" "TYK2_000065" "g.10475649C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915092" "0" "30" "19" "10463149" "10463149" "subst" "1.64872E-5" "02326" "TYK2_000066" "g.10463149C>T" "" "" "" "TYK2(NM_003331.4):c.3279G>A (p.E1093=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926780" "0" "30" "19" "10468447" "10468447" "subst" "0.00167288" "02326" "TYK2_000067" "g.10468447G>T" "" "" "" "TYK2(NM_003331.4):c.2459C>A (p.P820H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926781" "0" "30" "19" "10475332" "10475332" "subst" "6.92589E-5" "02326" "TYK2_000032" "g.10475332C>T" "" "" "" "TYK2(NM_003331.4):c.1325G>A (p.R442Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926782" "0" "30" "19" "10488969" "10488969" "subst" "0.00401737" "02326" "TYK2_000068" "g.10488969G>T" "" "" "" "TYK2(NM_003331.4):c.114C>A (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930980" "0" "30" "19" "10468663" "10468663" "subst" "0.000970217" "02326" "TYK2_000069" "g.10468663C>G" "" "" "" "TYK2(NM_003331.4):c.2311+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930981" "0" "30" "19" "10473034" "10473034" "subst" "3.25653E-5" "02326" "TYK2_000070" "g.10473034G>A" "" "" "" "TYK2(NM_003331.4):c.1575C>T (p.S525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930982" "0" "30" "19" "10477133" "10477133" "subst" "0.000101532" "02326" "TYK2_000071" "g.10477133G>A" "" "" "" "TYK2(NM_003331.4):c.589C>T (p.R197C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930983" "0" "70" "19" "10478772" "10478772" "subst" "0" "02326" "TYK2_000072" "g.10478772G>A" "" "" "" "TYK2(NM_003331.4):c.424C>T (p.Q142*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930984" "0" "30" "19" "10488968" "10488968" "subst" "5.29601E-5" "02326" "TYK2_000073" "g.10488968C>T" "" "" "" "TYK2(NM_003331.4):c.115G>A (p.G39S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951176" "0" "30" "19" "10472989" "10472989" "subst" "3.25261E-5" "02326" "TYK2_000074" "g.10472989G>A" "" "" "" "TYK2(NM_003331.4):c.1620C>T (p.A540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951177" "0" "30" "19" "10475654" "10475654" "subst" "1.22161E-5" "02326" "TYK2_000045" "g.10475654G>A" "" "" "" "TYK2(NM_003331.4):c.1082C>T (p.A361V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983132" "0" "50" "19" "10475421" "10475421" "subst" "0.000126406" "01804" "TYK2_000039" "g.10475421C>T" "" "" "" "TYK2(NM_003331.4):c.1236G>A (p.A412=), TYK2(NM_003331.5):c.1236G>A (p.(Ala412=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042534" "0" "30" "19" "10463599" "10463599" "subst" "0.00117277" "01804" "TYK2_000075" "g.10463599C>T" "" "" "" "TYK2(NM_003331.5):c.3200+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042537" "0" "30" "19" "10476225" "10476225" "subst" "8.12916E-6" "01804" "TYK2_000076" "g.10476225A>G" "" "" "" "TYK2(NM_003331.5):c.979T>C (p.(Trp327Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TYK2 ## Count = 115 "{{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}}" "0000170914" "00022189" "50" "1342" "0" "1342" "0" "c.1342C>T" "r.(?)" "p.(Arg448Trp)" "" "0000249242" "00022189" "10" "1669" "7" "1669" "7" "c.1669+7T>C" "r.(=)" "p.(=)" "" "0000249243" "00022189" "10" "1477" "-6" "1477" "-6" "c.1477-6T>C" "r.(=)" "p.(=)" "" "0000250811" "00022189" "30" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Val15Ala)" "" "0000251048" "00022189" "10" "1848" "0" "1848" "0" "c.1848T>G" "r.(?)" "p.(Pro616=)" "" "0000252313" "00022189" "30" "2047" "398" "2047" "398" "c.2047+398T>A" "r.(=)" "p.(=)" "" "0000254030" "00022189" "30" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Val15Ala)" "" "0000312922" "00022189" "10" "2311" "11" "2311" "11" "c.2311+11G>C" "r.(=)" "p.(=)" "" "0000315165" "00022189" "30" "1401" "0" "1401" "0" "c.1401G>A" "r.(?)" "p.(Glu467=)" "" "0000315166" "00022189" "30" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Ala53Thr)" "" "0000315167" "00022189" "30" "1670" "-19" "1670" "-19" "c.1670-19A>G" "r.(=)" "p.(=)" "" "0000315168" "00022189" "10" "1774" "-4" "1774" "-4" "c.1774-4G>C" "r.spl?" "p.?" "" "0000315169" "00022189" "30" "3310" "0" "3310" "0" "c.3310C>G" "r.(?)" "p.(Pro1104Ala)" "" "0000315170" "00022189" "10" "590" "0" "590" "0" "c.590G>A" "r.(?)" "p.(Arg197His)" "" "0000315171" "00022189" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Leu263=)" "" "0000319169" "00022189" "30" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Gly612Ser)" "" "0000319170" "00022189" "50" "2469" "0" "2469" "0" "c.2469G>C" "r.(?)" "p.(Lys823Asn)" "" "0000319171" "00022189" "30" "2670" "0" "2670" "0" "c.2670G>C" "r.(?)" "p.(Thr890=)" "" "0000319172" "00022189" "30" "3186" "0" "3186" "0" "c.3186C>A" "r.(?)" "p.(Asp1062Glu)" "" "0000319173" "00022189" "10" "3488" "0" "3488" "0" "c.3488A>G" "r.(?)" "p.(Glu1163Gly)" "" "0000319174" "00022189" "50" "3560" "0" "3560" "0" "c.3560G>A" "r.(?)" "p.(Cys1187Tyr)" "" "0000319175" "00022189" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Glu159=)" "" "0000319176" "00022189" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Pro216=)" "" "0000319177" "00022189" "30" "879" "0" "879" "0" "c.879C>T" "r.(?)" "p.(Ile293=)" "" "0000336946" "00022189" "30" "1669" "7" "1669" "7" "c.1669+7T>C" "r.(=)" "p.(=)" "" "0000350508" "00022189" "30" "1084" "0" "1084" "0" "c.1084G>T" "r.(?)" "p.(Val362Phe)" "" "0000565571" "00022189" "30" "3315" "0" "3315" "0" "c.3315C>G" "r.(?)" "p.(Pro1105=)" "" "0000565572" "00022189" "10" "3310" "0" "3310" "0" "c.3310C>G" "r.(?)" "p.(Pro1104Ala)" "" "0000565573" "00022189" "30" "2250" "0" "2250" "0" "c.2250C>T" "r.(?)" "p.(Gly750=)" "" "0000565576" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000565577" "00022189" "30" "2061" "0" "2061" "0" "c.2061A>G" "r.(?)" "p.(Thr687=)" "" "0000565578" "00022189" "30" "2036" "0" "2036" "0" "c.2036G>C" "r.(?)" "p.(Arg679Pro)" "" "0000565579" "00022189" "50" "1807" "0" "1807" "0" "c.1807G>A" "r.(?)" "p.(Val603Met)" "" "0000565580" "00022189" "30" "1669" "4" "1669" "4" "c.1669+4C>T" "r.spl?" "p.?" "" "0000565581" "00022189" "10" "1477" "-6" "1477" "-6" "c.1477-6T>C" "r.(=)" "p.(=)" "" "0000565582" "00022189" "50" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442Gln)" "" "0000565583" "00022189" "30" "1011" "6" "1011" "6" "c.1011+6C>T" "r.(=)" "p.(=)" "" "0000565584" "00022189" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Phe270=)" "" "0000565585" "00022189" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "0000565586" "00022189" "10" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(Thr172=)" "" "0000565587" "00022189" "30" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Ser171=)" "" "0000617284" "00022189" "50" "2855" "0" "2855" "0" "c.2855G>C" "r.(?)" "p.(Arg952Pro)" "" "0000617285" "00022189" "30" "1236" "0" "1236" "0" "c.1236G>A" "r.(?)" "p.(Ala412=)" "" "0000649873" "00022189" "30" "2783" "0" "2783" "0" "c.2783C>T" "r.(?)" "p.(Ala928Val)" "" "0000649874" "00022189" "30" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000649875" "00022189" "30" "2051" "0" "2051" "0" "c.2051T>G" "r.(?)" "p.(Ile684Ser)" "" "0000649876" "00022189" "10" "1953" "0" "1953" "0" "c.1953C>T" "r.(=)" "p.(=)" "" "0000658446" "00022189" "30" "2914" "0" "2914" "0" "c.2914A>C" "r.(?)" "p.(Lys972Gln)" "" "0000658447" "00022189" "30" "1576" "0" "1576" "0" "c.1576G>A" "r.(?)" "p.(Val526Ile)" "" "0000658448" "00022189" "50" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Ala361Val)" "" "0000669458" "00022189" "30" "2051" "0" "2051" "0" "c.2051T>G" "r.(?)" "p.(Ile684Ser)" "" "0000681224" "00022189" "50" "1925" "0" "1925" "0" "c.1925A>G" "r.(?)" "p.(Lys642Arg)" "" "0000681225" "00022189" "30" "709" "0" "709" "0" "c.709G>A" "r.(?)" "p.(Val237Ile)" "" "0000692640" "00022189" "30" "2357" "0" "2357" "0" "c.2357G>A" "r.(?)" "p.(Gly786Asp)" "" "0000727037" "00022189" "30" "3461" "0" "3461" "0" "c.3461C>T" "r.(?)" "p.(Thr1154Ile)" "" "0000727038" "00022189" "30" "3372" "0" "3372" "0" "c.3372C>G" "r.(?)" "p.(Leu1124=)" "" "0000727039" "00022189" "30" "2670" "0" "2670" "0" "c.2670G>C" "r.(?)" "p.(Thr890=)" "" "0000727040" "00022189" "30" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Arg679Cys)" "" "0000733925" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000733945" "00022189" "50" "2102" "0" "2102" "0" "c.2102G>C" "r.(?)" "p.(Arg701Thr)" "" "0000733984" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734005" "00022189" "50" "808" "0" "808" "0" "c.808T>C" "r.(?)" "p.(Phe270Leu)" "" "0000734015" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734032" "00022189" "50" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Val386Met)" "" "0000734071" "00022189" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Gly541Arg)" "" "0000734080" "00022189" "50" "2102" "0" "2102" "0" "c.2102G>C" "r.(?)" "p.(Arg701Thr)" "" "0000734171" "00022189" "50" "2038" "0" "2038" "0" "c.2038G>A" "r.(?)" "p.(Gly680Ser)" "" "0000734179" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734186" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734212" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734228" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734244" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734289" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734293" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000734440" "00022189" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Gly541Arg)" "" "0000734618" "00022189" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Gly541Arg)" "" "0000734659" "00022189" "50" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Gly541Arg)" "" "0000734668" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000735002" "00022189" "50" "2102" "0" "2102" "0" "c.2102G>C" "r.(?)" "p.(Arg701Thr)" "" "0000735023" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000735031" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000735048" "00022189" "50" "2102" "0" "2102" "0" "c.2102G>C" "r.(?)" "p.(Arg701Thr)" "" "0000735153" "00022189" "50" "1807" "0" "1807" "0" "c.1807G>A" "r.(?)" "p.(Val603Met)" "" "0000735201" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000735248" "00022189" "50" "2102" "0" "2102" "0" "c.2102G>C" "r.(?)" "p.(Arg701Thr)" "" "0000735259" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000735440" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000735446" "00022189" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Cys)" "" "0000735532" "00022189" "50" "2107" "0" "2107" "0" "c.2107C>T" "r.(?)" "p.(Arg703Trp)" "" "0000735542" "00022189" "50" "2102" "0" "2102" "0" "c.2102G>C" "r.(?)" "p.(Arg701Thr)" "" "0000808602" "00022189" "30" "3201" "-10" "3201" "-10" "c.3201-10dup" "r.(=)" "p.(=)" "" "0000808603" "00022189" "30" "2981" "0" "2981" "0" "c.2981G>A" "r.(?)" "p.(Ser994Asn)" "" "0000808604" "00022189" "30" "125" "0" "125" "0" "c.125C>A" "r.(?)" "p.(Pro42His)" "" "0000808605" "00022189" "30" "-185" "-17" "-185" "-17" "c.-185-17G>T" "r.(=)" "p.(=)" "" "0000855388" "00022189" "30" "3319" "-16" "3319" "-16" "c.3319-16C>T" "r.(=)" "p.(=)" "" "0000865772" "00022189" "30" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(His314=)" "" "0000865773" "00022189" "30" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "0000894668" "00022189" "30" "3560" "0" "3560" "0" "c.3560G>A" "r.(?)" "p.(Cys1187Tyr)" "" "0000894669" "00022189" "30" "3555" "0" "3555" "0" "c.3555C>T" "r.(?)" "p.(Ser1185=)" "" "0000894670" "00022189" "10" "2311" "11" "2311" "11" "c.2311+11G>C" "r.(=)" "p.(=)" "" "0000894671" "00022189" "10" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Gly363Ser)" "" "0000915092" "00022189" "30" "3279" "0" "3279" "0" "c.3279G>A" "r.(?)" "p.(Glu1093=)" "" "0000926780" "00022189" "30" "2459" "0" "2459" "0" "c.2459C>A" "r.(?)" "p.(Pro820His)" "" "0000926781" "00022189" "30" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442Gln)" "" "0000926782" "00022189" "30" "114" "0" "114" "0" "c.114C>A" "r.(?)" "p.(Gly38=)" "" "0000930980" "00022189" "30" "2311" "16" "2311" "16" "c.2311+16G>C" "r.(=)" "p.(=)" "" "0000930981" "00022189" "30" "1575" "0" "1575" "0" "c.1575C>T" "r.(?)" "p.(=)" "" "0000930982" "00022189" "30" "589" "0" "589" "0" "c.589C>T" "r.(?)" "p.(Arg197Cys)" "" "0000930983" "00022189" "70" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Gln142*)" "" "0000930984" "00022189" "30" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Gly39Ser)" "" "0000951176" "00022189" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(=)" "" "0000951177" "00022189" "30" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Ala361Val)" "" "0000983132" "00022189" "50" "1236" "0" "1236" "0" "c.1236G>A" "r.(?)" "p.(Ala412=)" "" "0001042534" "00022189" "30" "3200" "3" "3200" "3" "c.3200+3G>A" "r.spl?" "p.?" "" "0001042537" "00022189" "30" "979" "0" "979" "0" "c.979T>C" "r.(?)" "p.(Trp327Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000105485" "0000170914" "0000293184" "0000649873" "0000293185" "0000649874" "0000293186" "0000649875" "0000293187" "0000649876" "0000305770" "0000669458" "0000335511" "0000733925" "0000335515" "0000733945" "0000335526" "0000733984" "0000335532" "0000734005" "0000335535" "0000734015" "0000335541" "0000734032" "0000335552" "0000734071" "0000335554" "0000734080" "0000335584" "0000735048" "0000335587" "0000734171" "0000335589" "0000734179" "0000335591" "0000734186" "0000335597" "0000734212" "0000335599" "0000734228" "0000335604" "0000734244" "0000335624" "0000734289" "0000335625" "0000734293" "0000335709" "0000734440" "0000335764" "0000734618" "0000335774" "0000734659" "0000335775" "0000734668" "0000336074" "0000735002" "0000336077" "0000735023" "0000336078" "0000735031" "0000336108" "0000735153" "0000336130" "0000735201" "0000336153" "0000735248" "0000336155" "0000735259" "0000336246" "0000735440" "0000336248" "0000735446" "0000336269" "0000735532" "0000336271" "0000735542"