### LOVD-version 3000-280 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IL10) # 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}}" "IL10" "interleukin 10" "1" "q31-q32" "unknown" "NG_012088.1" "UD_132118346285" "" "https://www.LOVD.nl/IL10" "" "1" "5962" "3586" "124092" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IL10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-27 16:39:02" "00000" "2022-05-09 15:51:19" ## 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}}" "00009949" "IL10" "interleukin 10" "001" "NM_000572.2" "" "NP_000563.1" "" "" "" "-59" "1570" "537" "206945839" "206940948" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01546" "RA" "arthritis, rheumatoid (RA)" "" "180300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "02850" "HIVS" "virus, human immunodeficiency, susceptibility to" "" "609423" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 16:41:22" "03628" "GVHDS" "graft-versus-host disease, susceptibility to (GVHDS)" "" "614395" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 16:40:28" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" "05468" "uveitis" "uveitis" "" "" "" "" "" "00006" "2018-08-22 09:47:04" "" "" "05793" "virus, COVID19" "virus, COVID-19, susceptibility to" "XLR" "" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "IL10" "01546" "IL10" "02850" "IL10" "03628" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00180441" "" "" "" "166" "" "02555" "{PMID:Churchill 2010:20335604}" "British cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3928?snp=rs2222202&t=1535793391}" "" "United Kingdom" "" "00180442" "" "" "" "192" "" "02555" "{PMID:Churchill 2010:20335604}" "British cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3929?snp=rs3024490&t=1535793406}" "" "United Kingdom" "" "00180457" "" "" "" "207" "" "02555" "{PMID:González-Escribano 2013:24286189}" "Spanish cohort" "F;M" "" "Spain" "" "0" "{DB:Uveo3707?snp=rs2222202&t=1535706635}" "" "Spanish" "" "00180463" "" "" "" "317" "" "02555" "{PMID:Gül 2010:20622878}" "Japanese cohort" "F;M" "" "Japan" "" "0" "{DB:Uveo3743?snp=rs1518111&t=1535375738}" "" "Japanese" "" "00180465" "" "" "" "882" "" "02555" "{PMID:Gül 2010:20622878}" "Turkish cohort" "F;M" "" "Turkey" "" "0" "{DB:Uveo3725?snp=rs1518111%20&t=1535375353}" "" "Turkish" "" "00180569" "" "" "" "1398" "" "02555" "{PMID:Remmers 2017:28166214}" "Turkish cohort" "F;M" "" "Turkey" "" "0" "{DB:Uveo2786?snp=rs1518110&t=1535358428}" "" "Turkish" "" "00180609" "" "" "" "175" "" "02555" "{PMID:Song 2017:29017598}" "Korean cohort" "F;M" "" "Korea" "" "0" "{DB:Uveo3901?snp=rs1518110&t=1535338277}" "" "Korean" "" "00180610" "" "" "" "175" "" "02555" "{PMID:Song 2017:29017598}" "Korean cohort" "F;M" "" "Turkey" "" "0" "{DB:Uveo3902?snp=rs1518111&t=1535338390}" "" "Korean" "" "00180612" "" "" "" "187" "" "02555" "{PMID:Song 2017:29017598}" "Korean cohort" "F;M" "" "Korea" "" "0" "{DB:Uveo3906?snp=rs1554286&t=1535338578}" "" "Korean" "" "00180619" "" "" "" "563" "" "02555" "{PMID:Song 2017:29017598}" "Korean cohort" "F;M" "" "Korea" "" "0" "{DB:Uveo3905?snp=rs3024490&t=1535339164}" "" "Korean" "" "00180647" "" "" "" "639" "" "02555" "{PMID:Yang 2008:19050767}" "Chinese cohort" "F;M" "" "China" "" "0" "{DB:Uveo2722?snp=rs3024490%20&t=1535364750}" "" "Chinese" "" "00180699" "" "" "" "230" "" "02555" "{PMID:Yang 2014:24269690}" "Chinese Han cohort" "F;M" "" "China" "" "0" "{DB:Uveo2886?snp=rs1518111&t=1535705478}" "" "Chinese Han" "" "00180719" "" "" "" "289" "" "02555" "{PMID:Yang 2015:26015771}" "Chinese cohort" "F;M" "" "China" "" "0" "{DB:Uveo4456?snp=rs3021094&t=1535710650}" "" "Chinese" "" "00180721" "" "" "" "551" "" "02555" "{PMID:Yang 2015:26015771}" "Chinese cohort" "F;M" "" "China" "" "0" "{DB:Uveo3906?snp=rs1554286&t=1535709948}" "" "Chinese" "" "00334506" "" "" "" "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 = 15 "{{individualid}}" "{{diseaseid}}" "00180441" "05468" "00180442" "05468" "00180457" "05467" "00180463" "05467" "00180465" "05467" "00180569" "05467" "00180609" "05467" "00180610" "05467" "00180612" "05467" "00180619" "05467" "00180647" "05467" "00180699" "05467" "00180719" "05467" "00180721" "05467" "00334506" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01546, 02850, 03628, 05467, 05468, 05793 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000142836" "05468" "00180441" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "noninfectious uveitis" "Uveitis" "0000142837" "05468" "00180442" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "noninfectious uveitis" "Uveitis" "0000142852" "05467" "00180457" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000142858" "05467" "00180463" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000142860" "05467" "00180465" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000142964" "05467" "00180569" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143004" "05467" "00180609" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143005" "05467" "00180610" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143007" "05467" "00180612" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143014" "05467" "00180619" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143042" "05467" "00180647" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143094" "05467" "00180699" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143114" "05467" "00180719" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000143116" "05467" "00180721" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000253214" "05793" "00334506" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181378" "00180441" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181379" "00180442" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181394" "00180457" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181400" "00180463" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181402" "00180465" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181506" "00180569" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181546" "00180609" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181547" "00180610" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181549" "00180612" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181556" "00180619" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181584" "00180647" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181636" "00180699" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181656" "00180719" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000181658" "00180721" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000335736" "00334506" "1" "04011" "04011" "2021-03-01 09:43:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000181378" "IL10" "0000181379" "IL10" "0000181394" "IL10" "0000181400" "IL10" "0000181402" "IL10" "0000181506" "IL10" "0000181546" "IL10" "0000181547" "IL10" "0000181549" "IL10" "0000181556" "IL10" "0000181584" "IL10" "0000181636" "IL10" ## 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 = 31 "{{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}}" "0000251204" "0" "10" "1" "206941864" "206941864" "subst" "0" "02326" "IL10_000001" "g.206941864A>G" "" "" "" "IL10(NM_000572.3):c.*117T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206768519A>G" "" "benign" "" "0000251205" "0" "10" "1" "206943297" "206943297" "subst" "0" "02326" "IL10_000003" "g.206943297A>G" "" "" "" "IL10(NM_000572.3):c.379-58T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206769952A>G" "" "benign" "" "0000251206" "0" "10" "1" "206944233" "206944233" "subst" "0.719061" "02326" "IL10_000006" "g.206944233A>G" "" "" "" "IL10(NM_000572.3):c.378+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206770888A>G" "" "benign" "" "0000251207" "0" "10" "1" "206944861" "206944861" "subst" "0" "02326" "IL10_000008" "g.206944861A>C" "" "" "" "IL10(NM_000572.3):c.166-101T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206771516A>C" "" "benign" "" "0000285194" "0" "10" "1" "206944645" "206944645" "subst" "0" "02326" "IL10_000007" "g.206944645T>C" "" "" "" "IL10(NM_000572.3):c.225+56A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206771300T>C" "" "benign" "" "0000285195" "0" "10" "1" "206944112" "206944112" "subst" "0" "02326" "IL10_000005" "g.206944112T>A" "" "" "" "IL10(NM_000572.3):c.378+140A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206770767T>A" "" "benign" "" "0000285196" "0" "10" "1" "206943351" "206943351" "subst" "0" "02326" "IL10_000004" "g.206943351T>C" "" "" "" "IL10(NM_000572.3):c.379-112A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206770006T>C" "" "benign" "" "0000285197" "0" "30" "1" "206945738" "206945738" "subst" "0.00185325" "02326" "IL10_000009" "g.206945738C>T" "" "" "" "IL10(NM_000572.2):c.43G>A (p.(Gly15Arg)), IL10(NM_000572.3):c.43G>A (p.G15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206772393C>T" "" "likely benign" "" "0000285198" "0" "30" "1" "206942004" "206942004" "subst" "0.0000163264" "02326" "IL10_000002" "g.206942004T>C" "" "" "" "IL10(NM_000572.3):c.514A>G (p.M172V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.206768659T>C" "" "likely benign" "" "0000405074" "0" "50" "1" "206945381" "206945381" "subst" "0" "02555" "IL10_000012" "g.206945381G>A" "166/396 cases" "{PMID:Churchill 2010:20335604}" "" "" "{DB:Uveo3928?snp=rs2222202&t=1535793391}" "Germline" "" "rs2222202" "0" "" "" "g.206772036G>A" "" "VUS" "" "0000405075" "0" "50" "1" "206945311" "206945311" "subst" "0" "02555" "IL10_000011" "g.206945311A>C" "192/396 cases" "{PMID:Churchill 2010:20335604}" "" "" "{DB:Uveo3929?snp=rs3024490&t=1535793406}" "Germline" "" "rs3024490" "0" "" "" "g.206771966A>C" "" "VUS" "" "0000405090" "0" "50" "1" "206945381" "206945381" "subst" "0" "02555" "IL10_000012" "g.206945381G>A" "207/608 cases" "{PMID:González-Escribano 2013:24286189}" "" "" "{DB:Uveo3707?snp=rs2222202&t=1535706635}" "Germline" "" "rs2222202" "0" "" "" "g.206772036G>A" "" "VUS" "" "0000405096" "0" "50" "1" "206944645" "206944645" "subst" "0" "02555" "IL10_000007" "g.206944645T>C" "317/1322 cases" "{PMID:Gül 2010:20622878}" "" "" "{DB:Uveo3743?snp=rs1518111&t=1535375738}" "Germline" "" "rs1518111" "0" "" "" "g.206771300T>C" "" "VUS" "" "0000405098" "0" "50" "1" "206944645" "206944645" "subst" "0" "02555" "IL10_000007" "g.206944645T>C" "882/1161 cases" "{PMID:Gül 2010:20622878}" "" "" "{DB:Uveo3725?snp=rs1518111%20&t=1535375353}" "Germline" "" "rs1518111" "0" "" "" "g.206771300T>C" "" "VUS" "" "0000405202" "0" "50" "1" "206944861" "206944861" "subst" "0" "02555" "IL10_000008" "g.206944861A>C" "1398/3800 cases" "{PMID:Remmers 2017:28166214}" "" "" "{DB:Uveo2786?snp=rs1518110&t=1535358428}" "Germline" "" "rs1518110" "0" "" "" "g.206771516A>C" "" "VUS" "" "0000405242" "0" "50" "1" "206944861" "206944861" "subst" "0" "02555" "IL10_000008" "g.206944861A>C" "175/738 cases" "{PMID:Song 2017:29017598}" "" "" "{DB:Uveo3901?snp=rs1518110&t=1535338277}" "Germline" "" "rs1518110" "0" "" "" "g.206771516A>C" "" "VUS" "" "0000405243" "0" "50" "1" "206944645" "206944645" "subst" "0" "02555" "IL10_000007" "g.206944645T>C" "175/738 cases" "{PMID:Song 2017:29017598}" "" "" "{DB:Uveo3902?snp=rs1518111&t=1535338390}" "Germline" "" "rs1518111" "0" "" "" "g.206771300T>C" "" "VUS" "" "0000405245" "0" "50" "1" "206944233" "206944233" "subst" "0.719061" "02555" "IL10_000006" "g.206944233A>G" "187/738 cases" "{PMID:Song 2017:29017598}" "" "" "{DB:Uveo3906?snp=rs1554286&t=1535338578}" "Germline" "" "rs1554286" "0" "" "" "g.206770888A>G" "" "VUS" "" "0000405252" "0" "50" "1" "206945311" "206945311" "subst" "0" "02555" "IL10_000011" "g.206945311A>C" "563/738 cases" "{PMID:Song 2017:29017598}" "" "" "{DB:Uveo3905?snp=rs3024490&t=1535339164}" "Germline" "" "rs3024490" "0" "" "" "g.206771966A>C" "" "VUS" "" "0000405280" "0" "50" "1" "206945311" "206945311" "subst" "0" "02555" "IL10_000011" "g.206945311A>C" "639/2412 cases" "{PMID:Yang 2008:19050767}" "" "" "{DB:Uveo2722?snp=rs3024490%20&t=1535364750}" "Germline" "" "rs3024490" "0" "" "" "g.206771966A>C" "" "VUS" "" "0000405332" "0" "50" "1" "206944645" "206944645" "subst" "0" "02555" "IL10_000007" "g.206944645T>C" "230/814 cases" "{PMID:Yang 2014:24269690}" "" "" "{DB:Uveo2886?snp=rs1518111&t=1535705478}" "Germline" "" "rs1518111" "0" "" "" "g.206771300T>C" "" "VUS" "" "0000405352" "0" "50" "1" "206944952" "206944952" "subst" "0" "02555" "IL10_000010" "g.206944952T>G" "289/600 cases" "{PMID:Yang 2015:26015771}" "" "" "{DB:Uveo4456?snp=rs3021094&t=1535710650}" "Germline" "" "rs3021094" "0" "" "" "g.206771607T>G" "" "VUS" "" "0000405354" "0" "50" "1" "206944233" "206944233" "subst" "0.719061" "02555" "IL10_000006" "g.206944233A>G" "551/738 cases" "{PMID:Yang 2015:26015771}" "" "" "{DB:Uveo3906?snp=rs1554286&t=1535709948}" "Germline" "" "rs1554286" "0" "" "" "g.206770888A>G" "" "VUS" "" "0000504962" "0" "50" "1" "206944256" "206944256" "subst" "0.00000812599" "02325" "IL10_000013" "g.206944256C>T" "" "" "" "IL10(NM_000572.3):c.374G>A (p.R125H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206770911C>T" "" "VUS" "" "0000504964" "0" "30" "1" "206944856" "206944856" "del" "0" "02326" "IL10_000015" "g.206944856del" "" "" "" "IL10(NM_000572.3):c.166-86delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206771511del" "" "likely benign" "" "0000504965" "0" "30" "1" "206945738" "206945738" "subst" "0.00185325" "01943" "IL10_000009" "g.206945738C>T" "" "" "" "IL10(NM_000572.2):c.43G>A (p.(Gly15Arg)), IL10(NM_000572.3):c.43G>A (p.G15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206772393C>T" "" "likely benign" "" "0000504966" "0" "30" "1" "206945738" "206945738" "subst" "0.00185325" "01804" "IL10_000009" "g.206945738C>T" "" "" "" "IL10(NM_000572.2):c.43G>A (p.(Gly15Arg)), IL10(NM_000572.3):c.43G>A (p.G15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206772393C>T" "" "likely benign" "" "0000653862" "0" "30" "1" "206945608" "206945608" "subst" "0.000439958" "02326" "IL10_000016" "g.206945608A>G" "" "" "" "IL10(NM_000572.3):c.165+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.206772263A>G" "" "likely benign" "" "0000687994" "0" "30" "1" "206944736" "206944736" "subst" "0" "01943" "IL10_000017" "g.206944736A>G" "" "" "" "IL10(NM_000572.3):c.190T>C (p.L64=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734535" "0" "70" "1" "206945663" "206945663" "subst" "0.0000324939" "04011" "IL10_000018" "g.206945663T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000857236" "0" "50" "1" "206945648" "206945648" "subst" "0.00000406332" "01943" "IL10_000019" "g.206945648G>A" "" "" "" "IL10(NM_000572.3):c.133C>T (p.R45*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes IL10 ## Count = 31 "{{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}}" "0000251204" "00009949" "10" "654" "0" "654" "0" "c.*117T>C" "r.(=)" "p.(=)" "" "0000251205" "00009949" "10" "379" "-58" "379" "-58" "c.379-58T>C" "r.(=)" "p.(=)" "" "0000251206" "00009949" "10" "378" "19" "378" "19" "c.378+19T>C" "r.(=)" "p.(=)" "" "0000251207" "00009949" "10" "166" "-101" "166" "-101" "c.166-101T>G" "r.(=)" "p.(=)" "" "0000285194" "00009949" "10" "225" "56" "225" "56" "c.225+56A>G" "r.(=)" "p.(=)" "" "0000285195" "00009949" "10" "378" "140" "378" "140" "c.378+140A>T" "r.(=)" "p.(=)" "" "0000285196" "00009949" "10" "379" "-112" "379" "-112" "c.379-112A>G" "r.(=)" "p.(=)" "" "0000285197" "00009949" "30" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Arg)" "" "0000285198" "00009949" "30" "514" "0" "514" "0" "c.514A>G" "r.(?)" "p.(Met172Val)" "" "0000405074" "00009949" "00" "165" "235" "165" "235" "c.165+235C>T" "r.(=)" "p.(=)" "" "0000405075" "00009949" "00" "165" "305" "165" "305" "c.165+305T>G" "r.(=)" "p.(=)" "" "0000405090" "00009949" "00" "165" "235" "165" "235" "c.165+235C>T" "r.(=)" "p.(=)" "" "0000405096" "00009949" "00" "225" "56" "225" "56" "c.225+56A>G" "r.(=)" "p.(=)" "" "0000405098" "00009949" "00" "225" "56" "225" "56" "c.225+56A>G" "r.(=)" "p.(=)" "" "0000405202" "00009949" "00" "166" "-101" "166" "-101" "c.166-101T>G" "r.(=)" "p.(=)" "" "0000405242" "00009949" "00" "166" "-101" "166" "-101" "c.166-101T>G" "r.(=)" "p.(=)" "" "0000405243" "00009949" "00" "225" "56" "225" "56" "c.225+56A>G" "r.(=)" "p.(=)" "" "0000405245" "00009949" "00" "378" "19" "378" "19" "c.378+19T>C" "r.(=)" "p.(=)" "" "0000405252" "00009949" "00" "165" "305" "165" "305" "c.165+305T>G" "r.(=)" "p.(=)" "" "0000405280" "00009949" "00" "165" "305" "165" "305" "c.165+305T>G" "r.(=)" "p.(=)" "" "0000405332" "00009949" "00" "225" "56" "225" "56" "c.225+56A>G" "r.(=)" "p.(=)" "" "0000405352" "00009949" "00" "166" "-192" "166" "-192" "c.166-192A>C" "r.(=)" "p.(=)" "" "0000405354" "00009949" "00" "378" "19" "378" "19" "c.378+19T>C" "r.(=)" "p.(=)" "" "0000504962" "00009949" "50" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Arg125His)" "" "0000504964" "00009949" "30" "166" "-86" "166" "-86" "c.166-86del" "r.(=)" "p.(=)" "" "0000504965" "00009949" "30" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Arg)" "" "0000504966" "00009949" "30" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Arg)" "" "0000653862" "00009949" "30" "165" "8" "165" "8" "c.165+8T>C" "r.(=)" "p.(=)" "" "0000687994" "00009949" "30" "190" "0" "190" "0" "c.190T>C" "r.(?)" "p.(Leu64=)" "" "0000734535" "00009949" "50" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Met40Val)" "" "0000857236" "00009949" "50" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Arg45*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000181378" "0000405074" "0000181379" "0000405075" "0000181394" "0000405090" "0000181400" "0000405096" "0000181402" "0000405098" "0000181506" "0000405202" "0000181546" "0000405242" "0000181547" "0000405243" "0000181549" "0000405245" "0000181556" "0000405252" "0000181584" "0000405280" "0000181636" "0000405332" "0000181656" "0000405352" "0000181658" "0000405354" "0000335736" "0000734535"