### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IFNGR2)
# 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}}"
"IFNGR2" "interferon gamma receptor 2 (interferon gamma transducer 1)" "21" "q22.1" "unknown" "NG_007570.2" "UD_132118435795" "" "http://www.LOVD.nl/IFNGR2" "IFNGR2base " "1" "5440" "3460" "147569" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Esther van de Vosse, curating this database until 2020. \r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/IFNGR2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2022-06-27 15:49:36" "00000" "2024-08-28 13:16:32"
## 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}}"
"00009844" "IFNGR2" "interferon gamma receptor 2 (interferon gamma transducer 1)" "001" "NM_005534.3" "" "NP_005525.2" "" "" "" "-648" "1573" "1014" "34775202" "34809828" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00001" "JBS" "Johanson-Blizzard syndrome (JBS)" "AR" "243800" "" "" "" "00001" "2012-05-16 14:39:33" "00006" "2021-12-10 21:51:32"
"00002" "JBTS1" "Joubert syndrome, type 1 (JBTS1)" "AR" "213300" "" "" "" "00006" "2012-05-17 22:47:36" "00006" "2021-12-10 21:51:32"
"02015" "-" "Rabson-Mendenhall syndrome" "AR" "262190" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04509" "IMD28" "immunodeficiency, type 28, mycobacteriosis (IMD-28)" "AR" "614889" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32"
"04516" "IMD30" "immunodeficiency, type 30 (IMD-30)" "AR" "614891" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32"
"05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05"
"05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"IFNGR2" "04509"
## Individuals ## Do not remove or alter this header ##
## Count = 29
"{{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}}"
"00080794" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" ""
"00260826" "" "" "" "1" "" "00000" "{PMID:Kong 2013:23161749}" "" "F" "no" "Poland" "" "0" "" "" "" ""
"00260827" "" "" "" "1" "" "00000" "" "" "?" "?" "" "" "0" "" "" "" ""
"00260828" "" "" "" "1" "" "00000" "{PMID:Holzer 2013:23459074}" "" "F" "" "(Germany)" "" "0" "" "" "" ""
"00260829" "" "" "" "1" "" "00000" "{PMID:Tesi 2015:25592983}" "" "F" "yes" "Portugal" "4m15d" "0" "" "" "" ""
"00260830" "" "" "" "1" "" "03027" "{PMID:Louvain de Souza 2017:28450854}" "this patient was previously entered in the database as: UENF - Family 1528 (F1)" "M" "yes" "Brazil" "" "0" "" "" "" ""
"00260831" "" "" "" "3" "" "00000" "unpublished data Niels Fisker" "" "M" "yes" "Iraq" "" "0" "" "" "Iraqi Arabs living in Denmark" ""
"00260832" "" "" "" "1" "" "00000" "{PMID:Kong 2013:23161749}" "" "F" "yes" "" "" "0" "" "" "" ""
"00260833" "" "" "" "1" "" "00000" "{PMID:Dorman 1998:9616207}" "" "M" "no" "(United States)" "" "0" "" "" "" ""
"00260834" "" "" "" "1" "" "00000" "{PMID:Doffinger 2000:10608793}" "" "F" "yes" "(France)" "" "0" "" "" "Portuguese" ""
"00260835" "" "" "" "1" "" "00000" "{PMID:Moncada-Velez 2013:23963039}" "" "M" "?" "Mexico" "" "0" "" "" "" ""
"00260836" "" "" "" "1" "" "00000" "{PMID:Vogt 2008:18625743}" "" "F" "yes" "(France)" "" "0" "" "" "Lebanon?" ""
"00260837" "" "" "" "1" "" "00000" "{PMID:Moncada-Velez 2013:23963039}" "" "M" "yes" "Turkey" "" "0" "" "" "" ""
"00260838" "" "" "" "1" "" "00000" "{PMID:Moncada-Velez 2013:23963039}" "" "M" "yes" "Turkey" "" "0" "" "" "" ""
"00260839" "" "" "" "1" "" "00000" "{PMID:Mansouri 2005:16091917}" "" "M" "yes" "Iran" "" "0" "" "" "" ""
"00260840" "" "" "" "1" "" "00000" "{PMID:Vogt 2005:15924140}" "" "M" "yes" "Iran" "" "0" "" "" "" ""
"00260841" "" "" "" "2" "" "00000" "{PMID:Vogt 2005:15924140}" "brother of 15924140-P4" "M" "yes" "Saudi Arabia" "" "0" "" "" "" ""
"00260842" "" "" "" "1" "" "00000" "{PMID: Martínez-Barricarte 2014:25135595}" "" "M" "yes" "Israel" "4y6m" "0" "" "" "Arab" ""
"00260843" "" "" "" "1" "" "00000" "{PMID:Vogt 2005:15924140}" "" "M" "yes" "Austria" "" "0" "" "" "" ""
"00260844" "" "" "" "1" "" "00000" "{DOI:Furthner 2007:10.1007/s00112-005-1270-7}" "" "M" "no" "Romania" "" "0" "" "" "" ""
"00260845" "" "" "" "2" "" "00000" "{PMID:Kilic 2012:22902943}" "" "M" "yes" "Turkey" "" "0" "" "" "" ""
"00260846" "" "" "" "1" "" "00000" "{PMID:Kong 2013:23161749}" "" "M" "yes" "" "" "0" "" "" "" ""
"00260847" "" "" "" "2" "" "00000" "{PMID:Rosenzweig 2004:15356149}" "sister of 15356149-P2" "F" "yes" "Qatar" "" "0" "" "" "" ""
"00260848" "" "" "" "1" "" "00000" "{PMID:Toyoda 2010:20587411}" "" "M" "no" "Japan" "" "0" "" "" "" ""
"00260849" "" "" "" "1" "" "00000" "{PMID: Martínez-Barricarte 2014:25135595}" "" "F" "yes" "(Israel)" "5y" "0" "" "" "Palestinian" ""
"00334848" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334857" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00433082" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Norway" "" "0" "" "" "" "Pat58,1"
"00433088" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Qatar" "" "0" "" "" "" "Pat64,1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 30
"{{individualid}}" "{{diseaseid}}"
"00080794" "02015"
"00080794" "04509"
"00260826" "04509"
"00260827" "00001"
"00260828" "04509"
"00260829" "04509"
"00260830" "04516"
"00260831" "00002"
"00260832" "04509"
"00260833" "04509"
"00260834" "04509"
"00260835" "04509"
"00260836" "04509"
"00260837" "04509"
"00260838" "04509"
"00260839" "04509"
"00260840" "04509"
"00260841" "04509"
"00260842" "04509"
"00260843" "04509"
"00260844" "04509"
"00260845" "04509"
"00260846" "04509"
"00260847" "04509"
"00260848" "04509"
"00260849" "04509"
"00334848" "05793"
"00334857" "05793"
"00433082" "05292"
"00433088" "05292"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00001, 00002, 02015, 04509, 04516, 05292, 05793
## Count = 29
"{{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}}"
"0000060363" "02015" "00080794" "01758" "Familial, autosomal recessive" "" "Rabson-Mendenhall syndrome (OMIM:262190)" "" "" "" "" "" "" "" "" ""
"0000060672" "04509" "00080794" "01758" "Familial, autosomal recessive" "" "Immunodeficiency 28, mycobacteriosis (OMIM:614889)" "" "" "" "" "" "" "" "" ""
"0000199359" "04509" "00260826" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" ""
"0000199360" "04509" "00260828" "00000" "-" "" "disseminated M.bovis BCG; multifocal osteomylitis; recurrent pneumonic infections" "" "" "" "" "" "" "" "" ""
"0000199361" "04509" "00260829" "00000" "Familial, autosomal recessive" "" "disseminated Mycobacterium bovis; CMV infection; Note: initial diagnosis HLH" "" "" "" "" "" "" "" "" ""
"0000199362" "04516" "00260830" "03027" "Familial, autosomal recessive" "" "IMD30, IL-12RB1 deficiency, MSMD" "" "" "" "" "" "" "" "" ""
"0000199363" "00002" "00260831" "00000" "Familial, autosomal recessive" "" "IMD28; IFNGR2 deficiency; MSMD" "" "" "" "" "" "" "" "" ""
"0000199364" "04509" "00260832" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000199365" "04509" "00260833" "00000" "Familial, autosomal recessive" "" "complete deficiency" "" "" "" "" "" "" "" "" ""
"0000199366" "04509" "00260834" "00000" "Familial, autosomal recessive" "" "partial deficiency" "" "" "" "" "" "" "" "" ""
"0000199367" "04509" "00260835" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000199368" "04509" "00260836" "00000" "Familial, autosomal recessive" "" "complete" "" "" "" "" "" "" "" "" ""
"0000199369" "04509" "00260837" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000199370" "04509" "00260838" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000199371" "04509" "00260839" "00000" "Familial, autosomal recessive" "" "complete" "" "" "" "" "" "" "" "" ""
"0000199372" "04509" "00260840" "00000" "Familial, autosomal recessive" "" "complete deficiency" "" "" "" "" "" "" "" "" ""
"0000199373" "04509" "00260841" "00000" "Familial, autosomal recessive" "" "complete deficiency" "" "" "" "" "" "" "" "" ""
"0000199374" "04509" "00260842" "00000" "Familial, autosomal recessive" "" "" "13m" "" "" "" "" "" "" "" ""
"0000199375" "04509" "00260843" "00000" "Familial, autosomal recessive" "" "complete deficiency" "" "" "" "" "" "" "" "" ""
"0000199376" "04509" "00260844" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000199377" "04509" "00260845" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000199378" "04509" "00260846" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" ""
"0000199379" "04509" "00260847" "00000" "Familial, autosomal recessive" "" "complete deficiency" "" "" "" "" "" "" "" "" ""
"0000199380" "04509" "00260848" "00000" "Familial, autosomal recessive" "" "complete" "" "" "" "" "" "" "" "" ""
"0000199381" "04509" "00260849" "00000" "Familial, autosomal recessive" "" "MSMD" "5m" "" "" "" "" "" "" "" ""
"0000253245" "05793" "00334848" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19"
"0000253254" "05793" "00334857" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19"
"0000323608" "05292" "00433082" "00006" "Unknown" "40y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "primary immunodeficiency disease"
"0000323614" "05292" "00433088" "00006" "Familial, autosomal recessive" "" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "primary immunodeficiency disease"
## Screenings ## Do not remove or alter this header ##
## Count = 29
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000080906" "00080794" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000261931" "00260826" "1" "00000" "01723" "2013-11-14 17:08:11" "01723" "2017-05-03 15:50:37" "SEQ" "DNA" "" ""
"0000261932" "00260827" "1" "00000" "01723" "2013-11-15 11:54:09" "01723" "2013-11-15 12:00:28" "?" "?" "" ""
"0000261933" "00260828" "1" "00000" "01723" "2015-09-21 17:10:31" "01723" "2017-05-03 15:49:37" "?" "?" "" ""
"0000261934" "00260829" "1" "00000" "01723" "2015-09-21 16:33:50" "01723" "2017-05-03 15:49:37" "SEQ" "RNA" "" ""
"0000261935" "00260830" "1" "03027" "03027" "2014-07-01 16:28:08" "01723" "2017-08-01 16:23:15" "SEQ" "DNA" "" ""
"0000261936" "00260831" "1" "00000" "01723" "2017-08-29 15:21:34" "" "" "SEQ" "RNA" "" ""
"0000261937" "00260832" "1" "00000" "01723" "2013-11-14 17:26:43" "01723" "2017-05-03 15:50:37" "SEQ" "DNA" "" ""
"0000261938" "00260833" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "RNA" "" ""
"0000261939" "00260834" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "RNA" "" ""
"0000261940" "00260835" "1" "00000" "01723" "2013-11-14 14:30:46" "01723" "2017-05-03 15:50:37" "SEQ" "DNA" "" ""
"0000261941" "00260836" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "?" "?" "" ""
"0000261942" "00260837" "1" "00000" "01723" "2013-11-14 14:46:24" "01723" "2017-05-03 15:50:37" "SEQ-NG-I" "DNA" "" ""
"0000261943" "00260838" "1" "00000" "01723" "2013-11-14 15:03:15" "01723" "2017-05-03 15:50:37" "SEQ-NG-I" "DNA" "" ""
"0000261944" "00260839" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "DNA" "" ""
"0000261945" "00260840" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "DNA" "" ""
"0000261946" "00260841" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "DNA" "" ""
"0000261947" "00260842" "1" "00000" "01723" "2014-08-26 11:17:05" "01723" "2017-05-03 15:49:37" "SEQ" "DNA" "" ""
"0000261948" "00260843" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "RNA" "" ""
"0000261949" "00260844" "1" "00000" "01723" "2016-01-21 10:59:15" "01723" "2017-05-03 15:49:37" "?" "?" "" ""
"0000261950" "00260845" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "RNA" "" ""
"0000261951" "00260846" "1" "00000" "01723" "2013-11-15 10:00:15" "01723" "2017-05-03 15:50:37" "?" "?" "" ""
"0000261952" "00260847" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "SEQ" "DNA" "" ""
"0000261953" "00260848" "1" "00000" "00000" "2011-11-26 10:59:32" "01723" "2017-05-03 15:49:37" "?" "?" "" ""
"0000261954" "00260849" "1" "00000" "01723" "2014-08-26 11:41:52" "01723" "2017-05-03 15:49:37" "SEQ" "DNA" "" ""
"0000336077" "00334848" "1" "04011" "04011" "2021-03-02 03:07:30" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336086" "00334857" "1" "04011" "04011" "2021-03-02 06:11:54" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000434513" "00433082" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" ""
"0000434519" "00433088" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 26
"{{screeningid}}" "{{geneid}}"
"0000080906" "IFNGR2"
"0000080906" "INSR"
"0000261931" "IFNGR2"
"0000261932" "IFNGR2"
"0000261933" "IFNGR2"
"0000261934" "IFNGR2"
"0000261935" "IFNGR2"
"0000261936" "IFNGR2"
"0000261937" "IFNGR2"
"0000261938" "IFNGR2"
"0000261939" "IFNGR2"
"0000261940" "IFNGR2"
"0000261941" "IFNGR2"
"0000261942" "IFNGR2"
"0000261943" "IFNGR2"
"0000261944" "IFNGR2"
"0000261945" "IFNGR2"
"0000261946" "IFNGR2"
"0000261947" "IFNGR2"
"0000261948" "IFNGR2"
"0000261949" "IFNGR2"
"0000261950" "IFNGR2"
"0000261951" "IFNGR2"
"0000261952" "IFNGR2"
"0000261953" "IFNGR2"
"0000261954" "IFNGR2"
## 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 = 59
"{{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}}"
"0000129981" "3" "90" "21" "34804627" "34804627" "subst" "0" "01758" "IFNGR2_000013" "g.34804627C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.33432320C>A" "" "pathogenic" "ACMG"
"0000250801" "0" "30" "21" "34799244" "34799244" "subst" "0.00226277" "02326" "IFNGR2_000016" "g.34799244A>C" "" "" "" "IFNGR2(NM_001329128.1):c.523A>C (p.I175L), IFNGR2(NM_005534.3):c.466A>C (p.I156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33426937A>C" "" "likely benign" ""
"0000254020" "0" "30" "21" "34799244" "34799244" "subst" "0.00226277" "01943" "IFNGR2_000016" "g.34799244A>C" "" "" "" "IFNGR2(NM_001329128.1):c.523A>C (p.I175L), IFNGR2(NM_005534.3):c.466A>C (p.I156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33426937A>C" "" "likely benign" ""
"0000281483" "0" "10" "21" "34799350" "34799350" "subst" "0.767812" "02325" "IFNGR2_000036" "g.34799350C>G" "" "" "" "IFNGR2(NM_005534.4):c.561+11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33427043C>G" "" "benign" ""
"0000285161" "0" "50" "21" "34799200" "34799200" "subst" "0" "02326" "IFNGR2_000032" "g.34799200G>A" "" "" "" "IFNGR2(NM_005534.3):c.422G>A (p.G141E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33426893G>A" "" "VUS" ""
"0000285162" "0" "30" "21" "34799315" "34799315" "subst" "0" "02326" "IFNGR2_000035" "g.34799315C>T" "" "" "" "IFNGR2(NM_005534.3):c.537C>T (p.Y179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33427008C>T" "" "likely benign" ""
"0000285163" "0" "30" "21" "34804517" "34804517" "subst" "0.000219482" "02326" "IFNGR2_000037" "g.34804517T>C" "" "" "" "IFNGR2(NM_005534.3):c.595T>C (p.L199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33432210T>C" "" "likely benign" ""
"0000289422" "0" "50" "21" "34799217" "34799217" "subst" "0.00141391" "01943" "IFNGR2_000033" "g.34799217G>A" "" "" "" "IFNGR2(NM_001329128.1):c.496G>A (p.E166K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33426910G>A" "" "VUS" ""
"0000289423" "0" "30" "21" "34804517" "34804517" "subst" "0.000219482" "01943" "IFNGR2_000037" "g.34804517T>C" "" "" "" "IFNGR2(NM_005534.3):c.595T>C (p.L199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33432210T>C" "" "likely benign" ""
"0000570536" "0" "30" "21" "34775886" "34775886" "subst" "0.00127462" "01943" "IFNGR2_000038" "g.34775886C>T" "" "" "" "IFNGR2(NM_001329128.1):c.37C>T (p.L13F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33403580C>T" "" "likely benign" ""
"0000570537" "0" "30" "21" "34775948" "34775957" "dup" "0" "02326" "IFNGR2_000039" "g.34775948_34775957dup" "" "" "" "IFNGR2(NM_005534.3):c.73+21_73+30dupCGCGGCGGGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33403642_33403651dup" "" "likely benign" ""
"0000570538" "0" "30" "21" "34793888" "34793888" "subst" "0.000243679" "01943" "IFNGR2_000040" "g.34793888C>T" "" "" "" "IFNGR2(NM_001329128.1):c.365C>T (p.A122V), IFNGR2(NM_005534.3):c.308C>T (p.A103V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33421581C>T" "" "likely benign" ""
"0000570539" "0" "30" "21" "34804607" "34804607" "subst" "0" "01943" "IFNGR2_000041" "g.34804607T>C" "" "" "" "IFNGR2(NM_001329128.1):c.742T>C (p.L248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432300T>C" "" "likely benign" ""
"0000570540" "0" "30" "21" "34805079" "34805079" "subst" "6.90849E-5" "01943" "IFNGR2_000042" "g.34805079G>A" "" "" "" "IFNGR2(NM_001329128.1):c.837G>A (p.S279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432772G>A" "" "likely benign" ""
"0000570541" "0" "30" "21" "34805196" "34805196" "dup" "0" "02326" "IFNGR2_000043" "g.34805196dup" "" "" "" "IFNGR2(NM_005534.3):c.879+18dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432889dup" "" "likely benign" ""
"0000570542" "0" "30" "21" "34805210" "34805210" "dup" "0" "02326" "IFNGR2_000044" "g.34805210dup" "" "" "" "IFNGR2(NM_005534.3):c.879+32dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432903dup" "" "likely benign" ""
"0000592050" "3" "97" "21" "0" "0" "" "0" "00000" "IFNGR2_000024" "g.?" "" "{PMID:Holzer 2013:23459074}" "" "exon 1 deletion" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000592051" "3" "97" "21" "0" "0" "" "0" "00000" "IFNGR2_000022" "g.?" "" "{PMID:Tesi 2015:25592983}" "" "c.74_216del, p.Asp25Alafs*38" "splice out exon 2" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000592052" "0" "55" "21" "34787294" "34787294" "subst" "0.0151589" "00000" "IFNGR2_000014" "g.34787294C>G" "0-0.129 controls" "{PMID:Manry 2011:21448974}" "" "" "nomal 2nd chromosome" "Germline" "" "rs4986958" "0" "" "" "g.33414987C>G" "" "VUS" ""
"0000592053" "11" "99" "21" "34787307" "34787307" "del" "0" "00000" "IFNGR2_000011" "g.34787307del" "" "{PMID:Kong 2013:23161749}" "" "" "nomal 2nd chromosome; mutation causes haploinsufficiency" "Germline" "" "" "0" "" "" "g.33415000del" "" "pathogenic (dominant)" ""
"0000592054" "0" "33" "21" "34787312" "34787312" "subst" "0.195528" "00000" "IFNGR2_000015" "g.34787312A>G" "0.121-0.379 in controls" "{PMID:Manry 2011:21448974}" "" "c.191G>A" "" "Germline" "" "rs9808753" "0" "" "" "g.33415005A>G" "" "likely benign" ""
"0000592055" "20" "15" "21" "34787312" "34787312" "subst" "0.195528" "03027" "IFNGR2_000015" "g.34787312A>G" "" "" "" "" "" "Germline" "" "rs9808753" "0" "" "" "g.33415005A>G" "" "benign" ""
"0000592056" "3" "77" "21" "34787315" "34787315" "subst" "0" "00000" "IFNGR2_000025" "g.34787315T>G" "" "unpublished data - Niels Fisker" "" "" "" "Germline" "" "" "0" "" "" "g.33415008T>G" "" "likely pathogenic (recessive)" ""
"0000592057" "3" "99" "21" "34793798" "34793799" "del" "0" "00000" "IFNGR2_000012" "g.34793798_34793799del" "" "{PMID:Kong 2013:23161749}" "" "218delAA" "" "Germline" "" "" "0" "" "" "g.33421491_33421492del" "" "pathogenic (recessive)" ""
"0000592058" "3" "99" "21" "34793858" "34793859" "del" "0" "00000" "IFNGR2_000001" "g.34793858_34793859del" "" "{PMID:Dorman 1998:9616207}, {OMIM147569:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.33421551_33421552del" "" "pathogenic (recessive)" ""
"0000592059" "3" "99" "21" "34793920" "34793920" "subst" "0" "00000" "IFNGR2_000002" "g.34793920C>T" "" "{PMID:Doffinger 2000:10608793}" "" "" "" "Germline" "" "" "0" "" "" "g.33421613C>T" "" "pathogenic (recessive)" ""
"0000592060" "3" "97" "21" "34793951" "34793951" "subst" "0" "00000" "IFNGR2_000009" "g.34793951C>T" "" "{PMID:Moncada-Velez 2013:23963039}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.33421644C>T" "" "pathogenic (recessive)" ""
"0000592061" "3" "99" "21" "34793962" "34793967" "dup" "0" "00000" "IFNGR2_000006" "g.34793962_34793967dup" "" "{PMID:Vogt 2008:18625743}" "" "" "in-frame duplication" "Germline" "" "" "0" "" "" "g.33421655_33421660dup" "" "pathogenic (recessive)" ""
"0000592062" "3" "99" "21" "34799199" "34799199" "subst" "0" "00000" "IFNGR2_000010" "g.34799199G>A" "" "{PMID:Moncada-Velez 2013:23963039}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.33426892G>A" "" "pathogenic (recessive)" ""
"0000592063" "3" "99" "21" "34799199" "34799199" "subst" "0" "00000" "IFNGR2_000010" "g.34799199G>A" "" "{PMID:Moncada-Velez 2013:23963039}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.33426892G>A" "" "pathogenic (recessive)" ""
"0000592064" "0" "55" "21" "34799244" "34799244" "subst" "0.00226277" "00000" "IFNGR2_000016" "g.34799244A>C" "0-0.016 in controls" "{PMID:Manry 2011:21448974}" "" "" "" "Germline" "" "rs121913208" "0" "" "" "g.33426937A>C" "" "VUS" ""
"0000592065" "3" "99" "21" "34799281" "34799281" "subst" "0" "00000" "IFNGR2_000005" "g.34799281C>A" "" "{PMID:Mansouri 2005:16091917}" "" "T168N, mutation not specified" "substitution" "Germline" "" "" "0" "" "" "g.33426974C>A" "" "pathogenic (recessive)" ""
"0000592066" "3" "99" "21" "34799281" "34799281" "subst" "0" "00000" "IFNGR2_000005" "g.34799281C>A" "" "{PMID:Vogt 2005:15924140}, {OMIM147569:0002}" "" "" "substitution" "Germline" "" "" "0" "" "" "g.33426974C>A" "" "pathogenic (recessive)" ""
"0000592067" "3" "99" "21" "34799281" "34799281" "subst" "0" "00000" "IFNGR2_000005" "g.34799281C>A" "" "{PMID:Vogt 2005:15924140}, {OMIM147569:0002}" "" "" "substitution" "Germline" "" "" "0" "" "" "g.33426974C>A" "" "pathogenic (recessive)" ""
"0000592068" "3" "99" "21" "34799315" "34799315" "subst" "0" "00000" "IFNGR2_000020" "g.34799315C>G" "<0.0001" "{PMID: Martínez-Barricarte 2014:25135595}" "" "" "" "Germline" "" "" "0" "" "" "g.33427008C>G" "" "pathogenic (recessive)" ""
"0000592069" "0" "55" "21" "34799322" "34799322" "subst" "0.00243883" "00000" "IFNGR2_000017" "g.34799322A>G" "0-0.04 in controls" "{PMID:Manry 2011:21448974}" "" "" "" "Germline" "" "rs17878711" "0" "" "" "g.33427015A>G" "" "VUS" ""
"0000592070" "3" "99" "21" "34804585" "34804611" "del" "0" "00000" "IFNGR2_000004" "g.34804585_34804611del" "" "{PMID:Vogt 2005:15924140}" "" "663del27" "in-frame deletion" "Germline" "" "" "0" "" "" "g.33432278_33432304del" "" "pathogenic (recessive)" ""
"0000592071" "3" "99" "21" "34804585" "34804611" "del" "0" "00000" "IFNGR2_000004" "g.34804585_34804611del" "1(1)" "{DOI:Furthner 2007:10.1007/s00112-005-1270-7}" "" "663del27" "in-frame deletion" "Germline" "" "" "0" "" "" "g.33432278_33432304del" "" "pathogenic (recessive)" ""
"0000592072" "3" "99" "21" "34804601" "34804601" "subst" "0" "00000" "IFNGR2_000008" "g.34804601G>A" "" "{PMID:Kilic 2012:22902943}" "" "" "phenotypically complete deficiency (using retroviral expression constructs it was shown to be very severe but with a tiny residual response)" "Germline" "" "" "0" "" "" "g.33432294G>A" "" "pathogenic (recessive)" ""
"0000592073" "3" "99" "21" "34804627" "34804627" "subst" "0" "00000" "IFNGR2_000013" "g.34804627C>A" "" "{PMID:Kong 2013:23161749}" "" "Y235X" "mutation inferred, may also be 705C>G" "Germline" "" "" "0" "" "" "g.33432320C>A" "" "pathogenic (recessive)" ""
"0000592074" "0" "55" "21" "34804630" "34804630" "subst" "0.000495601" "00000" "IFNGR2_000018" "g.34804630A>T" "0-0.008 in controls" "{PMID:Manry 2011:21448974}" "" "" "" "Germline" "" "rs121913212" "0" "" "" "g.33432323A>T" "" "VUS" ""
"0000592075" "3" "99" "21" "34805090" "34805090" "del" "0" "00000" "IFNGR2_000003" "g.34805090del" "" "{PMID:Rosenzweig 2004:15356149}" "" "" "frameshift" "Germline" "" "" "0" "" "" "g.33432783del" "" "pathogenic (recessive)" ""
"0000592076" "0" "55" "21" "34809144" "34809144" "subst" "2.03143E-5" "00000" "IFNGR2_000019" "g.34809144G>A" "0-0.008 in controls" "{PMID:Manry 2011:21448974}" "" "" "" "Germline" "" "rs121913219" "0" "" "" "g.33436837G>A" "" "VUS" ""
"0000592077" "3" "99" "21" "34809204" "34809205" "del" "0" "00000" "IFNGR2_000007" "g.34809204_34809205del" "" "{PMID:Toyoda 2010:20587411}" "" "949delTG" "" "Germline" "" "" "0" "" "" "g.33436897_33436898del" "" "pathogenic (recessive)" ""
"0000592078" "3" "99" "21" "34809212" "34809212" "dup" "0" "00000" "IFNGR2_000021" "g.34809212dup" "<0.0001" "{PMID: Martínez-Barricarte 2014:25135595}" "" "c.958insT, p.319Sfs382X" "" "Germline" "" "" "0" "" "" "g.33436905dup" "" "pathogenic (recessive)" ""
"0000618328" "0" "50" "21" "34799220" "34799220" "subst" "8.12592E-6" "02325" "IFNGR2_000045" "g.34799220G>A" "" "" "" "IFNGR2(NM_001329128.1):c.499G>A (p.V167M), IFNGR2(NM_001329128.2):c.499G>A (p.V167M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33426913G>A" "" "VUS" ""
"0000658825" "0" "50" "21" "34804532" "34804532" "subst" "0" "02325" "IFNGR2_000046" "g.34804532C>T" "" "" "" "IFNGR2(NM_001329128.2):c.667C>T (p.P223S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33432225C>T" "" "VUS" ""
"0000693033" "0" "30" "21" "34799310" "34799310" "subst" "4.06408E-5" "01943" "IFNGR2_000047" "g.34799310C>T" "" "" "" "IFNGR2(NM_001329128.1):c.589C>T (p.H197Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000727882" "0" "50" "21" "34839404" "34839404" "subst" "0" "01943" "IFNGR2_000048" "g.34839404A>G" "" "" "" "TMEM50B(NM_006134.7):c.125T>C (p.I42T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000735019" "0" "70" "21" "34793791" "34793791" "subst" "2.84299E-5" "04011" "IFNGR2_000049" "g.34793791G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735075" "0" "70" "21" "34793791" "34793791" "subst" "2.84299E-5" "04011" "IFNGR2_000049" "g.34793791G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000866616" "0" "50" "21" "34799220" "34799220" "subst" "8.12592E-6" "01943" "IFNGR2_000045" "g.34799220G>A" "" "" "" "IFNGR2(NM_001329128.1):c.499G>A (p.V167M), IFNGR2(NM_001329128.2):c.499G>A (p.V167M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000895458" "0" "30" "21" "34793888" "34793888" "subst" "0.000243679" "02326" "IFNGR2_000040" "g.34793888C>T" "" "" "" "IFNGR2(NM_001329128.1):c.365C>T (p.A122V), IFNGR2(NM_005534.3):c.308C>T (p.A103V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000915446" "0" "10" "21" "34805197" "34805197" "subst" "0" "02326" "IFNGR2_000050" "g.34805197C>T" "" "" "" "IFNGR2(NM_005534.3):c.879+19_879+20delCTinsTT, IFNGR2(NM_005534.3):c.879+19_879+23delCTTTTinsTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000920268" "3" "90" "21" "34799199" "34799199" "subst" "0" "00006" "IFNGR2_000010" "g.34799199G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Somatic" "" "" "0" "" "" "g.33426892G>A" "" "pathogenic" "ACMG"
"0000920274" "3" "90" "21" "34799199" "34799199" "subst" "0" "00006" "IFNGR2_000010" "g.34799199G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Somatic" "" "" "0" "" "" "g.33426892G>A" "" "pathogenic" "ACMG"
"0000927068" "0" "30" "21" "34775938" "34775938" "subst" "0.00918114" "02326" "IFNGR2_000051" "g.34775938G>A" "" "" "" "IFNGR2(NM_005534.3):c.73+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000927069" "0" "30" "21" "34793814" "34793814" "subst" "0.00106819" "02326" "IFNGR2_000052" "g.34793814C>T" "" "" "" "IFNGR2(NM_005534.3):c.234C>T (p.D78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001005666" "0" "10" "21" "34805210" "34805210" "del" "0" "02326" "IFNGR2_000053" "g.34805210del" "" "" "" "IFNGR2(NM_005534.3):c.879+32delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 IFNGR2
## Count = 59
"{{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}}"
"0000129981" "00009844" "90" "705" "0" "705" "0" "c.705C>A" "r.(?)" "p.(Tyr235*)" ""
"0000250801" "00009844" "30" "466" "0" "466" "0" "c.466A>C" "r.(?)" "p.(Ile156Leu)" ""
"0000254020" "00009844" "30" "466" "0" "466" "0" "c.466A>C" "r.(?)" "p.(Ile156Leu)" ""
"0000281483" "00009844" "10" "561" "11" "561" "11" "c.561+11C>G" "r.(=)" "p.(=)" ""
"0000285161" "00009844" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Gly141Glu)" ""
"0000285162" "00009844" "30" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Tyr179=)" ""
"0000285163" "00009844" "30" "595" "0" "595" "0" "c.595T>C" "r.(?)" "p.(Leu199=)" ""
"0000289422" "00009844" "50" "439" "0" "439" "0" "c.439G>A" "r.(?)" "p.(Glu147Lys)" ""
"0000289423" "00009844" "30" "595" "0" "595" "0" "c.595T>C" "r.(?)" "p.(Leu199=)" ""
"0000570536" "00009844" "30" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Leu13Phe)" ""
"0000570537" "00009844" "30" "73" "26" "73" "35" "c.73+26_73+35dup" "r.(=)" "p.(=)" ""
"0000570538" "00009844" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ala103Val)" ""
"0000570539" "00009844" "30" "685" "0" "685" "0" "c.685T>C" "r.(?)" "p.(Leu229=)" ""
"0000570540" "00009844" "30" "780" "0" "780" "0" "c.780G>A" "r.(?)" "p.(Ser260=)" ""
"0000570541" "00009844" "30" "879" "18" "879" "18" "c.879+18dup" "r.(=)" "p.(=)" ""
"0000570542" "00009844" "30" "879" "32" "879" "32" "c.879+32dup" "r.(=)" "p.(=)" ""
"0000592050" "00009844" "97" "-648" "0" "73" "1" "c.(?_-648)_(73+1_74-1)del" "r.?" "p.0?" "1?"
"0000592051" "00009844" "97" "0" "0" "0" "0" "c.?" "r.74_206del" "p.Asp25Alafs*14" ""
"0000592052" "00009844" "55" "173" "0" "173" "0" "c.173C>G" "r.(?)" "p.(Thr58Arg)" "2"
"0000592053" "00009844" "99" "186" "0" "186" "0" "c.186del" "r.(?)" "p.(Tyr63Thrfs*20)" "2"
"0000592054" "00009844" "33" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Gln64Arg)" "2"
"0000592055" "00009844" "15" "191" "0" "191" "0" "c.191A>G" "r.(?)" "p.(Gln64Arg)" "2"
"0000592056" "00009844" "77" "194" "0" "194" "0" "c.194T>G" "r.(?)" "p.(Val65Gly)" "2"
"0000592057" "00009844" "99" "218" "0" "219" "0" "c.218_219del" "r.(?)" "p.(Lys73Metfs*22)" "3"
"0000592058" "00009844" "99" "278" "0" "279" "0" "c.278_279del" "r.(?)" "p.(Glu93Valfs*2)" "3"
"0000592059" "00009844" "99" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Arg114Cys)" "3"
"0000592060" "00009844" "97" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Ser124Phe)" "3"
"0000592061" "00009844" "99" "382" "0" "387" "0" "c.382_387dup" "r.(?)" "p.(Thr128_Met129dup)" "3"
"0000592062" "00009844" "99" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Arg)" "4"
"0000592063" "00009844" "99" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Arg)" "4"
"0000592064" "00009844" "55" "466" "0" "466" "0" "c.466A>C" "r.(?)" "p.(Ile156Leu)" "4"
"0000592065" "00009844" "99" "503" "0" "503" "0" "c.(503C>A)" "r.(?)" "p.(Thr168Asn)" "4"
"0000592066" "00009844" "99" "503" "0" "503" "0" "c.503C>A" "r.(?)" "p.(Thr168Asn)" "4"
"0000592067" "00009844" "99" "503" "0" "503" "0" "c.503C>A" "r.(?)" "p.(Thr168Asn)" "4"
"0000592068" "00009844" "99" "537" "0" "537" "0" "c.537C>G" "r.(?)" "p.(Tyr179*)" "4"
"0000592069" "00009844" "55" "544" "0" "544" "0" "c.544A>G" "r.(?)" "p.(Lys182Glu)" "4"
"0000592070" "00009844" "99" "663" "0" "689" "0" "c.663_689del" "r.(?)" "p.(Phe224_Ile232del)" "5"
"0000592071" "00009844" "99" "663" "0" "689" "0" "c.663_689del" "r.(?)" "p.(Phe224_Ile232del)" "5"
"0000592072" "00009844" "99" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Arg)" "5"
"0000592073" "00009844" "99" "705" "0" "705" "0" "c.705C>A" "r.(?)" "p.(Tyr235*)" "5"
"0000592074" "00009844" "55" "708" "0" "708" "0" "c.708A>T" "r.(?)" "p.(Glu236Asp)" "5"
"0000592075" "00009844" "99" "791" "0" "791" "0" "c.791del" "r.(?)" "p.(Gly264Glufs*8)" "6"
"0000592076" "00009844" "55" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Asp297Asn)" "7"
"0000592077" "00009844" "99" "949" "0" "950" "0" "c.949_950del" "r.(?)" "p.(Trp317Glyfs*66)" "7"
"0000592078" "00009844" "99" "957" "0" "957" "0" "c.957dup" "r.(?)" "p.(Val320Cysfs*64)" "7"
"0000618328" "00009844" "50" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Val148Met)" ""
"0000658825" "00009844" "50" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Pro204Ser)" ""
"0000693033" "00009844" "30" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(His178Tyr)" ""
"0000727882" "00009844" "50" "31149" "0" "31149" "0" "c.*30135A>G" "r.(=)" "p.(=)" ""
"0000735019" "00009844" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Asp71Asn)" ""
"0000735075" "00009844" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Asp71Asn)" ""
"0000866616" "00009844" "50" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Val148Met)" ""
"0000895458" "00009844" "30" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ala103Val)" ""
"0000915446" "00009844" "10" "879" "19" "879" "19" "c.879+19C>T" "r.(=)" "p.(=)" ""
"0000920268" "00009844" "90" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Arg)" "4"
"0000920274" "00009844" "90" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Arg)" "4"
"0000927068" "00009844" "30" "73" "16" "73" "16" "c.73+16G>A" "r.(=)" "p.(=)" ""
"0000927069" "00009844" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Asp78=)" ""
"0001005666" "00009844" "10" "879" "32" "879" "32" "c.879+32del" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 34
"{{screeningid}}" "{{variantid}}"
"0000080906" "0000129981"
"0000261931" "0000592053"
"0000261932" "0000592052"
"0000261932" "0000592054"
"0000261932" "0000592064"
"0000261932" "0000592069"
"0000261932" "0000592074"
"0000261932" "0000592076"
"0000261933" "0000592050"
"0000261934" "0000592051"
"0000261935" "0000592055"
"0000261936" "0000592056"
"0000261937" "0000592057"
"0000261938" "0000592058"
"0000261939" "0000592059"
"0000261940" "0000592060"
"0000261941" "0000592061"
"0000261942" "0000592062"
"0000261943" "0000592063"
"0000261944" "0000592065"
"0000261945" "0000592066"
"0000261946" "0000592067"
"0000261947" "0000592068"
"0000261948" "0000592070"
"0000261949" "0000592071"
"0000261950" "0000592072"
"0000261951" "0000592073"
"0000261952" "0000592075"
"0000261953" "0000592077"
"0000261954" "0000592078"
"0000336077" "0000735019"
"0000336086" "0000735075"
"0000434513" "0000920268"
"0000434519" "0000920274"