### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = IFNGR1)
# 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}}"
"IFNGR1" "interferon gamma receptor 1" "6" "q23-q24" "unknown" "LRG_66" "UD_132085323683" "" "https://www.LOVD.nl/IFNGR1" "IFNGR1base " "1" "5439" "3459" "107470" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Esther van de Vosse, curating this database until 2020. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2022-06-27 15:48:23" "00000" "2025-07-08 13:22:38"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00009843" "IFNGR1" "interferon gamma receptor 1" "001" "NM_000416.2" "" "NP_000407.1" "" "" "" "-103" "2017" "1470" "137540567" "137518621" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43"
"01676" "IMD27A" "immunodeficiency, type 27A, mycobacteriosis, AR (IMD-27A)" "AR" "209950" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02297" "-" "Helicobacter pylori infection, susceptibility to" "" "600263" "" "" "" "00006" "2014-09-25 23:29:40" "" ""
"02727" "-" "Mycobacterium tuberculosis, susceptibility to" "" "607948" "" "" "" "00006" "2014-09-25 23:29:40" "" ""
"02938" "virus, Hepatitis B" "virus, Hepatitis B, susceptibility to" "" "610424" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-24 22:13:38"
"04508" "IMD27B" "immunodeficiency, type 27B, mycobacteriosis, autosomal dominant (IMD-27B)" "AD" "615978" "" "" "" "00000" "2015-09-23 10:25:22" "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"
"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 = 5
"{{geneid}}" "{{diseaseid}}"
"IFNGR1" "01676"
"IFNGR1" "02297"
"IFNGR1" "02727"
"IFNGR1" "02938"
"IFNGR1" "04508"
## Individuals ## Do not remove or alter this header ##
## Count = 118
"{{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}}"
"00260658" "" "" "" "1" "" "00000" "http://www.ncbi.nlm.nih.gov/snp/" "-" "" "?" "" "" "0" "" "" "-" ""
"00260659" "" "" "" "3" "" "00000" "{PMID:Jouanguy 1999:10192386}" "1 family, 3 patients" "F" "no" "Ireland" "" "0" "" "" "" ""
"00260660" "" "" "" "2" "" "00000" "{PMID:Jouanguy 1999:10192386}" "1 family, 2 patients" "F" "no" "Ireland" "" "0" "" "" "" ""
"00260661" "" "" "" "3" "" "00000" "{PMID:Jouanguy 1999:10192386} {PMID:Roesler 2011:20842068}" "1 family, 3 patients; 2 patients, 2 asymptomatics in this family; in later publication one of the asymptomatics developed VZV meningoencephalitis (see Roesler et al 2011)" "F" "no" "Germany" "" "0" "" "" "" ""
"00260662" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "F" "no" "Italy" "" "0" "" "" "" ""
"00260663" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "F" "no" "Morocco" "" "0" "" "" "" ""
"00260664" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "M" "no" "Sweden" "" "0" "" "" "" ""
"00260665" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00260666" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "F" "no" "United States" "" "0" "" "" "" ""
"00260667" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386} {PMID:Zerbe 2005:16028145}" "" "M" "no" "United States" "" "0" "" "" "" ""
"00260668" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "M" "no" "United States" "" "0" "" "" "" ""
"00260669" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "M" "no" "United States" "" "0" "" "" "" ""
"00260670" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1999:10192386}" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00260671" "" "" "" "1" "" "00000" "{PMID:Dorman 2000:10959079}" "" "" "no" "" "" "0" "" "" "Korean/African" ""
"00260672" "" "" "" "2" "" "00000" "{PMID:Arend 2001:11583830}" "1 family, 2 patients" "F" "?" "Netherlands" "" "0" "" "" "" ""
"00260673" "" "" "" "4" "" "00000" "{PMID:Arend 2001:11583830}" "1 family, 4 patients" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00260674" "" "" "" "3" "" "00000" "{PMID:Arend 2001:11583830}" "1 family 3 patients; in the publication: 2 patients+1 asymptomatic sibling. this sibling has since developed disease as well" "F" "no" "Netherlands" "" "0" "" "" "" ""
"00260675" "" "" "" "1" "" "00000" "{PMID:Villella 2001:11335768}" "" "F" "?" "United States" "" "0" "" "" "white" ""
"00260676" "" "" "" "2" "" "00000" "{PMID:Edgar 2001:11598613}" "1 family, 2 patients" "F" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00260677" "" "" "" "1" "" "00000" "{PMID:Edgar 2001:11598613}" "" "F" "?" "(United Kingdom (Great Britain))" "" "0" "" "" "" ""
"00260678" "" "" "" "1" "" "00000" "{PMID:Sasaki 2002:11865431}" "" "F" "?" "Japan" "" "0" "" "" "" ""
"00260679" "" "" "" "2" "" "00000" "{PMID:Sasaki 2002:11865431}" "1 family, 2 patients" "M" "?" "Japan" "" "0" "" "" "" ""
"00260680" "" "" "" "1" "" "00000" "{PMID:Sasaki 2002:11865431}" "" "M" "?" "Japan" "" "0" "" "" "" ""
"00260681" "" "" "" "2" "" "00000" "{PMID:Waibel 2002:12269642}" "1 family, 2 patients" "F" "?" "(United States)" "" "0" "" "" "" ""
"00260682" "" "" "" "2" "" "00000" "{PMID:Dorman 2004:15589309}" "1 family, 2 patients" "M" "?" "United States" "" "0" "" "" "" ""
"00260683" "" "" "" "1" "" "00000" "{PMID:Dorman 2004:15589309}" "" "M" "?" "United States" "" "0" "" "" "" ""
"00260684" "" "" "" "2" "" "00000" "{PMID:Dorman 2004:15589309}" "1 family, 2 patients" "M" "?" "United States" "" "0" "" "" "" ""
"00260685" "" "" "" "1" "" "00000" "{PMID:Dorman 2004:15589309}" "" "M" "?" "India" "" "0" "" "" "" ""
"00260686" "" "" "" "1" "" "00000" "{PMID:Dorman 2004:15589309}" "" "F" "?" "France" "" "0" "" "" "" ""
"00260687" "" "" "" "2" "" "00000" "{PMID:Dorman 2004:15589309}" "1 family, 2 patients" "F" "?" "Germany" "" "0" "" "" "" ""
"00260688" "" "" "" "2" "" "00000" "{PMID:Storgaard 2006:16867158} {PMID:Bang 2008:18842863}" "1 family, 2 patients; mutation appeared de novo in father, and then inherited by daughter" "M" "?" "(Denmark)" "" "0" "" "" "" ""
"00260689" "" "" "" "1" "" "00000" "{PMID:Okada 2007:17513528}" "" "F" "?" "Japan" "" "0" "" "" "" ""
"00260690" "" "" "" "2" "" "00000" "{PMID:Han 2004:15472821}" "1 family, 2 patients+1 deceased sib" "M" "?" "(United States)" "" "0" "" "" "" ""
"00260691" "" "" "" "4" "" "00000" "{PMID:Glosli 2008:18171304}" "1 family, 4 patients+1 asymptomatic" "F" "no" "Norway" "" "0" "" "" "" ""
"00260692" "" "" "" "2" "" "00000" "{PMID:Lee 2008:18972195}" "1 family, 2 patients" "M" "?" "Taiwan" "" "0" "" "" "" ""
"00260693" "" "" "" "1" "" "00000" "{PMID:Lee 2008:18972195}" "" "F" "?" "Taiwan" "" "0" "" "" "" ""
"00260694" "" "" "" "1" "" "00000" "{PMID:Vinh 2009:19681704}" "" "M" "?" "United States" "" "0" "" "" "white" ""
"00260695" "" "" "" "2" "" "00000" "{PMID:Auld 2011:21464185}" "1 family, 2 patients" "F" "?" "Australia" "" "0" "" "" "" ""
"00260696" "" "" "" "1" "" "00000" "{PMID:Muszlak 2007:17223023}" "" "F" "no" "Comoros" "" "0" "" "" "" ""
"00260697" "" "" "" "1" "" "00000" "{PMID:Obinata 2012:23053508}" "" "M" "no" "Japan" "" "0" "" "" "" ""
"00260698" "" "" "" "1" "" "00000" "{PMID:Obinata 2012:23053508}" "" "F" "no" "Japan" "" "0" "" "" "" ""
"00260699" "" "" "" "1" "" "00000" "{PMID:Rose 2014:24220318}" "" "M" "?" "United States" "" "0" "" "" "white" ""
"00260700" "" "" "" "2" "" "00000" "{PMID:Takeda 2014:24509072}" "1 family, 2 patients" "F" "no" "Japan" "" "0" "" "" "" ""
"00260701" "" "" "" "1" "" "00000" "{PMID:Quispel 2014:24254535}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00260702" "" "" "" "1" "" "00000" "{PMID:Sharma 2015:26054576}" "" "M" "?" "India" "" "0" "" "" "India (living in Singapore)" ""
"00260703" "" "" "" "1" "" "00000" "{PMID:Antonietti 2015:26251056}" "" "F" "no" "(France)" "" "0" "" "" "Chechnya" ""
"00260704" "" "" "" "1" "" "00000" "{DOI:Pac 2012:10.5114/ceji.2012.32667}" "" "F" "no" "Poland" "" "0" "" "" "" ""
"00260705" "" "" "" "1" "" "00000" "{PMID:Hoshina 2011:21221749}" "" "M" "?" "Japan" "" "0" "" "" "" "Pat6"
"00260706" "" "" "" "3" "" "00000" "{PMID:Wang 2012:23036270}" "1 family, 3 patients" "M" "no" "Taiwan" "" "0" "" "" "" ""
"00260707" "" "" "" "1" "" "00000" "personal communication" "allele identified heterozygously in exome sequencing" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00260708" "" "" "" "1" "" "00000" "E. van de Vosse -unpublished data" "" "F" "?" "Germany" "" "0" "" "" "" ""
"00260709" "" "" "" "1" "" "00000" "E. van de Vosse -unpublished data" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00260710" "" "" "" "3" "" "00000" "{PMID:de Vor 2016:26931784}" "1 family, 3 patients" "F" "yes" "Netherlands" "" "0" "" "" "Turkey" ""
"00260711" "" "" "" "1" "" "00000" "{PMID:Kong 2010:19880857}" "" "F" "yes" "Finland" "" "0" "" "" "" ""
"00260712" "" "" "" "1" "" "00000" "" "" "" "" "Japan" "" "0" "" "" "" ""
"00260713" "" "" "" "1" "" "00000" "{PMID:Holland 1998:9806040} {PMID:Bax 2013:23800860}" "1 family, 1 patients +1 deceased sib" "M" "yes" "(Norway)" "" "0" "" "" "Pakistan: Punjab region" ""
"00260714" "" "" "" "1" "" "00000" "{PMID:Altare 1998:9497247} {PMID:Pierre-Audigier 1997:9142806}" "1 family, 1 patients+3 deceased sibs" "F" "no" "Italy" "" "0" "" "" "" ""
"00260715" "" "" "" "2" "" "00000" "{PMID:Dorman 2004:15589309}" "1 family, 2 patients" "M" "?" "Turkey" "" "0" "" "" "" ""
"00260716" "" "" "" "1" "" "00000" "{PMID:Edeer Karaca 2012:23194362}" "" "M" "yes" "Turkey" "" "0" "" "" "" ""
"00260717" "" "" "" "2" "" "00000" "{PMID:Dorman 2004:15589309}" "1 family, 2 patients" "M" "?" "Greece" "" "0" "" "" "" ""
"00260718" "" "" "" "1" "" "00000" "E. van de Vosse -unpublished data" "" "M" "no" "Germany" "" "0" "" "" "" ""
"00260719" "" "" "" "1" "" "00000" "{PMID:Wang 2014:24969940}" "" "F" "yes" "China" "" "0" "" "" "" ""
"00260720" "" "" "" "1" "" "00000" "{PMID:Jouanguy 1996:8960475}" "" "F" "yes" "Tunisia" "" "0" "" "" "" ""
"00260721" "" "" "" "1" "" "00000" "{PMID:Cunningham 2000:10949334}" "father was not available, so child can be homozygous or have a deletion on the other allele" "M" "no" "Canada" "" "0" "" "" "aboriginal" ""
"00260722" "" "" "" "1" "" "00000" "{PMID:Dorman 2004:15589309}" "" "M" "?" "United States" "" "0" "" "" "" ""
"00260723" "" "" "" "1" "" "00000" "{PMID:Jouanguy 2000:10811850}" "" "F" "no" "(France)" "" "0" "" "" "French/Portuguese" ""
"00260724" "" "" "" "1" "" "00000" "{PMID:Allende 2001:11139207}" "" "F" "yes" "Spain" "" "0" "" "" "Spain" ""
"00260725" "" "" "" "2" "" "00000" "{PMID:Sologuren 2011:21266457}" "1 family, 2 patients" "M" "no" "Spain" "" "0" "" "" "" ""
"00260726" "" "" "" "1" "" "00000" "{PMID:Sologuren 2011:21266457}" "" "F" "no" "Spain" "" "0" "" "" "" ""
"00260727" "" "" "" "1" "" "00000" "{PMID:Sologuren 2011:21266457}" "" "M" "no" "Spain" "" "0" "" "" "" ""
"00260728" "" "" "" "1" "" "00000" "{PMID:Sologuren 2011:21266457}" "" "M" "no" "Spain" "" "0" "" "" "" ""
"00260729" "" "" "" "1" "" "00000" "{PMID:Holland 1998:9806040} {PMID:Dorman 1999:10547254}" "" "M" "" "(United States)" "" "0" "" "" "Pakistan (original: Punjab, India)" ""
"00260730" "" "" "" "2" "" "00000" "{PMID:Jouanguy 2000:10811850} {PMID:Camcioglu 2004:15069403}" "1 family, 2 patients" "F" "yes" "Turkey" "" "0" "" "" "" ""
"00260731" "" "" "" "1" "" "00000" "{PMID:Chantrain 2006:16715106}" "" "M" "yes" "(Belgium)" "" "0" "" "" "" ""
"00260732" "" "" "" "1" "" "00000" "{PMID:Noordzij 2007:17514500}" "1 family, 1 patients+3deceased sibs; 2 sibs died after BCG vaccination; 1 after diarrhea (due to Salmonella?)" "F" "yes" "(Netherlands)" "" "0" "" "" "Pakistan" ""
"00260733" "" "" "" "2" "" "00000" "{PMID:Jouanguy 1997:9389728} and {PMID:Sologuren 2011:21266457}" "1 family, 2 patients; 9389728-P1 and P2 first reported in Jouanguy et al 1997 and also reported as 21266457-X.1 and X.2 in Sologuren et al 2011" "M" "yes" "Portugal" "" "0" "" "" "" ""
"00260734" "" "" "" "1" "" "00000" "{PMID:Remiszewski 2006:16195661} and {PMID:Sologuren 2011:21266457}" "This patient first reported by Remiszewski et al 2006 and also reported by Sologuren et al 2011 as patient XI.1" "F" "no" "Poland" "" "0" "" "" "" ""
"00260735" "" "" "" "1" "" "00000" "{PMID:Sologuren 2011:21266457}" "" "M" "yes" "Chile" "" "0" "" "" "" ""
"00260736" "" "" "" "1" "" "00000" "{PMID:Sologuren 2011:21266457}" "" "F" "yes" "Portugal" "" "0" "" "" "" ""
"00260737" "" "" "" "1" "" "00000" "{PMID:Sologuren 2011:21266457}" "" "M" "no" "Chile" "" "0" "" "" "" ""
"00260738" "" "" "" "1" "" "00000" "{PMID:Sologuren 2011:21266457}" "" "F" "no" "Chile" "" "0" "" "" "" ""
"00260739" "" "" "" "2" "" "00000" "{PMID:Sologuren 2011:21266457} {PMID:Bernatowska 2007:18044052}" "1 family, 2 patients" "M" "yes" "Portugal" "" "0" "" "" "Azores" ""
"00260740" "" "" "" "1" "" "00000" "{PMID:Jouanguy 2000:10811850}" "" "F" "yes" "Algeria" "" "0" "" "" "" ""
"00260741" "" "" "" "1" "" "00000" "{PMID:Prando 2010:20186794}" "" "M" "no" "Italy" "" "0" "" "" "" ""
"00260742" "" "" "" "3" "" "00000" "{PMID:Newport 1996:8960473}" "1 family, 3 patients" "M" "yes" "Malta" "" "0" "" "" "" ""
"00260743" "" "" "" "1" "" "00000" "{PMID:Newport 1996:8960473}" "" "F" "yes" "Malta" "" "0" "" "" "" ""
"00260744" "" "" "" "1" "" "00000" "{PMID:Roesler 1999:10480427}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00260745" "" "" "" "1" "" "00000" "{PMID:Noordzij 2007:17514500}" "B cell lymphoma described in {PMID23800860:Bax 2013}" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00260746" "" "" "" "1" "" "00000" "{PMID:Hartwig 2011:22012013}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00260747" "" "" "" "1" "" "00000" "van de Vosse, personal communication" "" "F" "?" "Viet Nam" "" "0" "" "" "Viet Nam" ""
"00260748" "" "" "" "1" "" "00000" "{PMID:Tsolia 2006:16602008}" "" "M" "yes" "Greece" "" "0" "" "" "" ""
"00260749" "" "" "" "1" "" "00000" "{PMID:Koscielniak 2003:12712974}" "" "M" "no" "Italy" "" "0" "" "" "" ""
"00260750" "" "" "" "1" "" "00000" "{PMID:Dorman 2004:15589309}" "" "M" "?" "Greece" "" "0" "" "" "" ""
"00260751" "" "" "" "1" "" "00000" "{PMID:Marazzi 2009:19880337}" "" "M" "?" "Italy" "" "0" "" "" "" ""
"00260752" "" "" "" "1" "" "00000" "{PMID:Taramasso 2014:25216720}" "" "M" "?" "(Italy)" "" "0" "" "" "" ""
"00260753" "" "" "" "1" "" "00000" "{PMID:Olbrich 2015:26173802} {PMID:Olbrich 2016:27171582}" "" "M" "no" "(Spain)" "" "0" "" "" "" ""
"00260754" "" "" "" "1" "" "00000" "{PMID:Dorman 2000:10959079}" "" "" "" "Argentina" "" "0" "" "" "" ""
"00260755" "" "" "" "1" "" "00000" "{PMID:Rosenzweig 2002:11781064}" "" "F" "no" "Argentina" "" "0" "" "" "" ""
"00260756" "" "" "" "2" "" "00000" "{PMID:Kong 2013:23472171}" "" "F" "yes" "Morocco" "" "0" "" "" "" ""
"00260757" "" "" "" "1" "" "00000" "{PMID:Tesi 2015:25592983}" "" "F" "no" "China" "4y" "0" "" "" "Chinese (living in Italy)" ""
"00260758" "" "" "" "1" "" "00000" "{PMID:Gutierrez 2016:27868075}" "" "M" "no" "(United States)" "" "0" "" "" "not reported" ""
"00260759" "" "" "" "1" "" "00000" "{PMID:Ward 2007:17120031}" "" "F" "yes" "United States" "" "0" "" "" "Hispanic" ""
"00260760" "" "" "" "1" "" "00000" "{PMID:Quispel 2014:24254535}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00260761" "" "" "" "1" "" "00000" "van de Vosse, personal communication" "" "M" "?" "Netherlands" "" "0" "" "" "" ""
"00260762" "" "" "" "1" "" "00000" "{PMID:Galal 2012:22708048}" "" "F" "yes" "Egypt" "" "0" "" "" "" ""
"00293991" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00324169" "" "" "" "1" "" "01723" "{PMID:Parackova 2020:31760574}" "1 family, 1 patient + 1 asymptomatic" "F" "no" "Czech Republic" ">17y" "0" "" "" "" "P1"
"00324170" "" "" "" "1" "" "01723" "{PMID:Khanolkar 2020:28927822}" "" "F" "-" "United States" ">05y" "0" "" "" "" "Patient"
"00324171" "" "" "" "1" "" "01723" "{PMID:Dotta 2020:32676075}" "" "F" "no" "Pakistan" ">04y" "0" "" "" "" "P1"
"00324172" "" "" "" "1" "" "01723" "{PMID:Bossi 2020:32714620}" "" "M" "no" "Italy" "" "0" "" "" "" "III.1"
"00324173" "" "" "" "1" "" "01723" "{PMID:Ying 2019:31367980}" "" "F" "no" "China" ">07y" "0" "" "" "" "P23"
"00324174" "" "" "" "1" "" "01723" "{PMID:Ying 2019:31367980}" "" "F" "?" "China" ">07y" "0" "" "" "" "P24"
"00324175" "" "" "" "1" "" "01723" "{PMID:Ying 2019:31367980}" "" "F" "" "China" "06y" "0" "" "" "" "P25"
"00324176" "" "" "" "1" "" "01723" "{PMID:Ying 2019:31367980}" "" "M" "" "China" "00y08m" "0" "" "" "" "P26"
"00324177" "" "" "" "1" "" "01723" "{PMID:Ying 2019:31367980}" "" "M" "" "China" ">00y06m" "0" "" "" "" "P27"
"00324178" "" "" "" "1" "" "01723" "{PMID:Glanzmann 2018:29777412}" "" "F" "no" "South Africa" ">15y" "0" "" "" "mixed ethnicity" "girl"
"00324179" "" "" "" "1" "" "01723" "{PMID:Martinez-Morales 2017:29249112}" "" "F" "" "Mexico" ">00y03m" "0" "" "" "" "Patient"
"00335019" "" "" "" "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 = 118
"{{individualid}}" "{{diseaseid}}"
"00260658" "00000"
"00260659" "04508"
"00260660" "04508"
"00260661" "04508"
"00260662" "04508"
"00260663" "04508"
"00260664" "04508"
"00260665" "04508"
"00260666" "04508"
"00260667" "04508"
"00260668" "04508"
"00260669" "04508"
"00260670" "04508"
"00260671" "04508"
"00260672" "04508"
"00260673" "04508"
"00260674" "04508"
"00260675" "04508"
"00260676" "04508"
"00260677" "04508"
"00260678" "04508"
"00260679" "04508"
"00260680" "04508"
"00260681" "04508"
"00260682" "04508"
"00260683" "04508"
"00260684" "04508"
"00260685" "04508"
"00260686" "04508"
"00260687" "04508"
"00260688" "04508"
"00260689" "04508"
"00260690" "04508"
"00260691" "04508"
"00260692" "04508"
"00260693" "04508"
"00260694" "04508"
"00260695" "04508"
"00260696" "04508"
"00260697" "04508"
"00260698" "04508"
"00260699" "04508"
"00260700" "04508"
"00260701" "04508"
"00260702" "04508"
"00260703" "04508"
"00260704" "04508"
"00260705" "04508"
"00260706" "04508"
"00260707" "00198"
"00260708" "04508"
"00260709" "04508"
"00260710" "01676"
"00260711" "01676"
"00260712" "00000"
"00260713" "01676"
"00260714" "01676"
"00260715" "01676"
"00260716" "01676"
"00260717" "01676"
"00260718" "01676"
"00260719" "01676"
"00260720" "01676"
"00260721" "01676"
"00260722" "01676"
"00260723" "01676"
"00260724" "01676"
"00260725" "01676"
"00260726" "01676"
"00260727" "01676"
"00260728" "01676"
"00260729" "01676"
"00260730" "01676"
"00260731" "01676"
"00260732" "01676"
"00260733" "01676"
"00260734" "01676"
"00260735" "01676"
"00260736" "01676"
"00260737" "01676"
"00260738" "01676"
"00260739" "01676"
"00260740" "01676"
"00260741" "01676"
"00260742" "01676"
"00260743" "01676"
"00260744" "01676"
"00260745" "01676"
"00260746" "01676"
"00260747" "04509"
"00260748" "01676"
"00260749" "01676"
"00260750" "01676"
"00260751" "01676"
"00260752" "01676"
"00260753" "01676"
"00260754" "01676"
"00260755" "01676"
"00260756" "00325"
"00260757" "01676"
"00260758" "01676"
"00260759" "01676"
"00260760" "04508"
"00260761" "04509"
"00260762" "01676"
"00293991" "00198"
"00324169" "04508"
"00324170" "01676"
"00324171" "04508"
"00324172" "01676"
"00324173" "01676"
"00324174" "01676"
"00324175" "01676"
"00324176" "01676"
"00324177" "01676"
"00324178" "04508"
"00324179" "01676"
"00335019" "05793"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00325, 01676, 02297, 02727, 02938, 04508, 04509, 05793
## Count = 93
"{{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}}"
"0000199203" "00000" "00260658" "00000" "-" "" "-" "" "" "" "" "" "" "" "" "" "" ""
"0000199204" "04508" "00260659" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199205" "04508" "00260660" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199206" "04508" "00260661" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199207" "04508" "00260662" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199208" "04508" "00260663" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199209" "04508" "00260664" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199210" "04508" "00260665" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199211" "04508" "00260666" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199212" "04508" "00260667" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199213" "04508" "00260668" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199214" "04508" "00260669" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199215" "04508" "00260670" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199216" "04508" "00260672" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199217" "04508" "00260673" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199218" "04508" "00260674" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199219" "04508" "00260675" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199220" "04508" "00260676" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199221" "04508" "00260678" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199222" "04508" "00260679" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199223" "04508" "00260680" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199224" "04508" "00260681" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199225" "04508" "00260688" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199226" "04508" "00260689" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199227" "04508" "00260690" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199228" "04508" "00260691" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199229" "04508" "00260692" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199230" "04508" "00260695" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199231" "04508" "00260696" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199232" "04508" "00260697" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199233" "04508" "00260698" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199234" "04508" "00260699" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199235" "04508" "00260700" "00000" "Familial, autosomal dominant" "" "" "10m" "" "" "" "" "" "" "" "" "" ""
"0000199236" "04508" "00260701" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199237" "04508" "00260703" "00000" "-" "" "" "4m" "" "" "" "" "" "" "" "" "" ""
"0000199238" "04508" "00260704" "00000" "Isolated (sporadic)" "" "" "3m" "" "" "" "" "" "" "" "" "" ""
"0000199239" "04508" "00260705" "00000" "-" "" "" "4m" "" "" "" "" "" "" "" "" "" ""
"0000199240" "04508" "00260706" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199241" "00198" "00260707" "00000" "Familial, autosomal recessive" "" "unrelated to mutation; unknown, allele not detected homozygously yet" "" "" "" "" "" "" "" "" "" "" ""
"0000199242" "04508" "00260709" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199243" "01676" "00260710" "00000" "Familial, autosomal recessive" "" "MSMD" "" "" "" "" "" "" "" "" "" "" ""
"0000199244" "01676" "00260711" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199245" "01676" "00260713" "00000" "Familial, autosomal recessive" "" "B cell lymphoma" "" "" "" "" "" "" "" "" "" "" ""
"0000199246" "01676" "00260714" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199247" "01676" "00260715" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199248" "01676" "00260716" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199249" "01676" "00260718" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199250" "01676" "00260719" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199251" "01676" "00260720" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199252" "01676" "00260721" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199253" "01676" "00260723" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199254" "01676" "00260724" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199255" "01676" "00260725" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199256" "01676" "00260726" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199257" "01676" "00260727" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199258" "01676" "00260728" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199259" "01676" "00260729" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199260" "01676" "00260730" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199261" "01676" "00260731" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199262" "01676" "00260732" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199263" "01676" "00260733" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199264" "01676" "00260734" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199265" "01676" "00260735" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199266" "01676" "00260736" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199267" "01676" "00260737" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199268" "01676" "00260738" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199269" "01676" "00260739" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199270" "01676" "00260740" "00000" "Familial, autosomal recessive" "" "living in France" "" "" "" "" "" "" "" "" "" "" ""
"0000199271" "01676" "00260741" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199272" "01676" "00260742" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199273" "01676" "00260743" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199274" "01676" "00260744" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199275" "01676" "00260745" "00000" "Familial, autosomal recessive" "" "NTM infections and B cell lymphoma" "" "" "" "" "" "" "" "" "" "" ""
"0000199276" "01676" "00260746" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199277" "04509" "00260747" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199278" "01676" "00260748" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199279" "01676" "00260749" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199280" "01676" "00260751" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199281" "01676" "00260752" "00000" "Familial, autosomal recessive" "" "M.scrofulaceum multifocal osteomyelitis. intracranial tumour (pineal germinoma)" "2y10m" "" "" "" "" "" "" "" "" "" ""
"0000199282" "01676" "00260753" "00000" "Familial, autosomal recessive" "" "Salmonella gastroenteritis; disseminated M.fortuitum, Influenza A" "" "" "" "" "" "" "" "" "" "" ""
"0000199283" "01676" "00260754" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199284" "01676" "00260755" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199285" "00325" "00260756" "00000" "-" "" "The M.bovis BCG lymphadenitis is unlikely to be due to the variant identified in IFNGR1" "" "" "" "" "" "" "" "" "" "" ""
"0000199286" "01676" "00260757" "00000" "Familial, autosomal recessive" "" "EBV and disseminated M.tuberculosis" "" "" "" "" "" "" "" "" "" "HLH" ""
"0000199287" "01676" "00260759" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199288" "04508" "00260760" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199289" "01676" "00260762" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199290" "04508" "00260671" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199291" "04508" "00260702" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199292" "04508" "00260708" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199293" "01676" "00260717" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000199294" "01676" "00260722" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000253301" "05793" "00335019" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
## Screenings ## Do not remove or alter this header ##
## Count = 118
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000261763" "00260658" "1" "00000" "01723" "2012-09-27 12:10:47" "00008" "2019-08-08 16:02:57" "SEQ" "DNA" "" ""
"0000261764" "00260659" "1" "00000" "01723" "2012-05-23 14:20:02" "01723" "2016-05-03 12:03:55" "SEQ" "DNA" "" ""
"0000261765" "00260660" "1" "00000" "01723" "2012-05-23 14:37:29" "01723" "2016-05-03 12:08:27" "SEQ" "DNA" "" ""
"0000261766" "00260661" "1" "00000" "01723" "2012-05-23 14:44:26" "01723" "2016-05-31 09:56:11" "SEQ" "DNA" "" ""
"0000261767" "00260662" "1" "00000" "01723" "2012-05-23 15:00:13" "01723" "2016-05-03 12:09:51" "SEQ" "DNA" "" ""
"0000261768" "00260663" "1" "00000" "01723" "2012-05-23 15:13:28" "01723" "2016-05-03 12:10:31" "SEQ" "DNA" "" ""
"0000261769" "00260664" "1" "00000" "01723" "2012-05-23 15:16:22" "01723" "2016-05-03 12:10:51" "SEQ" "DNA" "" ""
"0000261770" "00260665" "1" "00000" "01723" "2012-05-23 15:20:28" "01723" "2016-05-03 12:11:18" "SEQ" "DNA" "" ""
"0000261771" "00260666" "1" "00000" "01723" "2012-05-23 15:25:53" "01723" "2016-05-03 12:11:50" "SEQ" "DNA" "" ""
"0000261772" "00260667" "1" "00000" "01723" "2012-05-23 15:28:30" "01723" "2016-05-03 12:12:17" "SEQ" "DNA" "" ""
"0000261773" "00260668" "1" "00000" "01723" "2012-05-23 15:31:40" "01723" "2016-05-03 12:12:40" "SEQ" "DNA" "" ""
"0000261774" "00260669" "1" "00000" "01723" "2012-05-23 15:42:48" "01723" "2016-05-03 12:13:04" "SEQ" "DNA" "" ""
"0000261775" "00260670" "1" "00000" "01723" "2012-05-23 15:47:01" "01723" "2016-05-03 12:13:33" "SEQ" "DNA" "" ""
"0000261776" "00260671" "1" "00000" "01723" "2012-05-24 10:36:56" "01723" "2016-05-03 12:07:42" "?" "?" "" ""
"0000261777" "00260672" "1" "00000" "01723" "2012-08-06 12:10:11" "01723" "2016-05-03 12:14:05" "SEQ" "DNA" "" ""
"0000261778" "00260673" "1" "00000" "01723" "2012-08-06 12:16:11" "01723" "2017-03-14 10:22:09" "SEQ" "DNA" "" ""
"0000261779" "00260674" "1" "00000" "01723" "2012-08-06 12:24:16" "01723" "2016-05-25 15:38:14" "SEQ" "DNA" "" ""
"0000261780" "00260675" "1" "00000" "01723" "2012-08-06 12:47:50" "01723" "2016-05-03 12:15:53" "SEQ" "DNA" "" ""
"0000261781" "00260676" "1" "00000" "01723" "2012-08-06 13:25:36" "01723" "2016-05-03 12:16:15" "SEQ" "DNA" "" ""
"0000261782" "00260677" "1" "00000" "01723" "2012-08-06 13:29:35" "01723" "2016-05-03 12:17:16" "SEQ" "DNA" "" ""
"0000261783" "00260678" "1" "00000" "01723" "2012-08-06 13:55:05" "01723" "2016-05-03 12:06:14" "SEQ" "RNA" "" ""
"0000261784" "00260679" "1" "00000" "01723" "2012-08-06 14:01:03" "01723" "2016-05-03 12:15:03" "SEQ" "RNA" "" ""
"0000261785" "00260680" "1" "00000" "01723" "2012-08-06 14:06:37" "01723" "2016-05-03 12:16:42" "SEQ" "RNA" "" ""
"0000261786" "00260681" "1" "00000" "01723" "2012-08-06 14:38:01" "01723" "2016-05-03 12:17:45" "SEQ" "DNA" "" ""
"0000261787" "00260682" "1" "00000" "01723" "2012-08-06 16:20:36" "01723" "2016-05-03 12:18:09" "SEQ" "DNA" "" ""
"0000261788" "00260683" "1" "00000" "00000" "2012-08-08 13:23:59" "01723" "2016-05-03 12:18:39" "SEQ" "DNA" "" ""
"0000261789" "00260684" "1" "00000" "01723" "2012-08-08 13:35:01" "01723" "2016-05-03 12:19:17" "SEQ" "DNA" "" ""
"0000261790" "00260685" "1" "00000" "01723" "2012-08-09 09:42:23" "01723" "2016-05-03 12:19:42" "SEQ" "DNA" "" ""
"0000261791" "00260686" "1" "00000" "01723" "2012-08-09 09:45:18" "01723" "2016-05-03 12:20:16" "SEQ" "DNA" "" ""
"0000261792" "00260687" "1" "00000" "01723" "2012-08-09 09:48:17" "01723" "2016-05-03 12:23:23" "SEQ" "DNA" "" ""
"0000261793" "00260688" "1" "00000" "01723" "2012-08-09 10:51:52" "01723" "2016-05-03 12:05:16" "SEQ" "DNA" "" ""
"0000261794" "00260689" "1" "00000" "01723" "2012-08-09 10:58:12" "01723" "2016-05-03 12:04:44" "SEQ" "DNA" "" ""
"0000261795" "00260690" "1" "00000" "01723" "2012-08-09 11:06:45" "01723" "2016-05-31 10:33:39" "SEQ" "DNA" "" ""
"0000261796" "00260691" "1" "00000" "01723" "2012-08-09 11:14:40" "01723" "2016-05-03 12:21:26" "SEQ" "?" "" ""
"0000261797" "00260692" "1" "00000" "01723" "2012-08-09 11:29:24" "01723" "2016-05-03 12:21:50" "SEQ" "?" "" ""
"0000261798" "00260693" "1" "00000" "01723" "2012-08-09 11:33:49" "01723" "2016-05-03 12:22:24" "SEQ" "?" "" ""
"0000261799" "00260694" "1" "00000" "01723" "2012-08-09 11:40:10" "01723" "2016-05-03 12:22:57" "SEQ" "?" "" ""
"0000261800" "00260695" "1" "00000" "01723" "2012-08-09 13:33:26" "01723" "2016-05-03 12:23:54" "SEQ" "?" "" ""
"0000261801" "00260696" "1" "00000" "01723" "2013-06-19 13:58:31" "01723" "2016-05-03 12:24:20" "SEQ" "DNA" "" ""
"0000261802" "00260697" "1" "00000" "01723" "2013-06-19 14:17:55" "01723" "2016-05-03 12:07:07" "SEQ" "DNA" "" ""
"0000261803" "00260698" "1" "00000" "01723" "2013-06-19 14:21:50" "01723" "2016-05-03 12:24:50" "SEQ" "DNA" "" ""
"0000261804" "00260699" "1" "00000" "01723" "2013-11-18 11:07:15" "01723" "2016-05-03 14:09:53" "SEQ" "DNA" "" ""
"0000261805" "00260700" "1" "00000" "01723" "2015-09-21 12:29:44" "01723" "2016-05-03 12:25:18" "SEQ" "DNA" "" ""
"0000261806" "00260701" "1" "00000" "01723" "2015-09-21 12:39:53" "01723" "2016-05-03 12:25:49" "SEQ" "DNA" "" ""
"0000261807" "00260702" "1" "00000" "01723" "2015-09-21 13:59:59" "01723" "2016-05-03 14:16:17" "SEQ" "DNA" "" ""
"0000261808" "00260703" "1" "00000" "01723" "2016-01-20 11:42:03" "01723" "2017-03-14 10:36:58" "?" "?" "" ""
"0000261809" "00260704" "1" "00000" "01723" "2016-01-20 16:28:40" "01723" "2017-03-14 10:37:33" "?" "?" "" ""
"0000261810" "00260705" "1" "00000" "01723" "2016-01-20 16:33:06" "01723" "2016-05-03 12:27:39" "?" "?" "" ""
"0000261811" "00260706" "1" "00000" "01723" "2016-05-03 11:55:38" "01723" "2016-05-25 15:09:03" "SEQ" "DNA" "" ""
"0000261812" "00260707" "1" "00000" "01723" "2017-01-31 12:21:17" "01723" "2017-06-21 14:45:11" "SEQ" "DNA" "" ""
"0000261813" "00260708" "1" "00000" "01723" "2017-03-14 13:34:49" "01723" "2017-06-21 14:29:27" "SEQ" "DNA" "" ""
"0000261814" "00260709" "1" "00000" "01723" "2017-06-21 11:21:38" "01723" "2017-06-21 11:23:50" "SEQ" "DNA" "" ""
"0000261815" "00260710" "1" "00000" "01723" "2016-03-02 14:47:46" "01723" "2017-06-21 14:25:23" "SEQ" "DNA" "" ""
"0000261816" "00260711" "1" "00000" "01723" "2012-08-09 11:57:30" "01723" "2017-06-21 14:46:46" "SEQ" "DNA" "" ""
"0000261817" "00260712" "1" "00000" "00002" "2011-06-15 11:09:32" "01723" "2013-06-19 11:45:27" "SEQ" "DNA" "" ""
"0000261818" "00260713" "1" "00000" "01723" "2012-05-23 13:36:30" "01723" "2016-05-31 10:01:48" "SEQ" "RNA" "" ""
"0000261819" "00260714" "1" "00000" "01723" "2012-05-23 14:02:55" "01723" "2016-05-31 10:22:01" "SEQ" "DNA" "" ""
"0000261820" "00260715" "1" "00000" "01723" "2012-08-06 15:55:39" "01723" "2013-06-19 11:30:32" "SEQ" "DNA" "" ""
"0000261821" "00260716" "1" "00000" "01723" "2013-06-24 15:25:59" "01723" "2013-06-24 15:26:25" "SEQ" "DNA" "" ""
"0000261822" "00260717" "1" "00000" "01723" "2012-08-06 16:16:11" "01723" "2013-06-19 11:30:32" "SEQ" "DNA" "" ""
"0000261823" "00260718" "1" "00000" "01723" "2017-06-21 11:45:06" "" "" "SEQ" "RNA" "" ""
"0000261824" "00260719" "1" "00000" "01723" "2015-09-29 16:28:29" "" "" "SEQ" "?" "" ""
"0000261825" "00260720" "1" "00000" "01723" "2012-05-23 12:54:54" "01723" "2013-06-19 11:51:08" "SEQ" "RNA" "" ""
"0000261826" "00260721" "1" "00000" "01723" "2016-05-25 15:31:06" "01723" "2016-05-31 10:22:43" "SEQ" "DNA" "" ""
"0000261827" "00260722" "1" "00000" "01723" "2012-08-06 16:04:13" "01723" "2013-06-19 11:30:32" "SEQ" "DNA" "" ""
"0000261828" "00260723" "1" "00000" "01723" "2012-05-24 10:12:41" "01723" "2013-06-19 11:51:53" "SEQ" "RNA" "" ""
"0000261829" "00260724" "1" "00000" "01723" "2012-08-06 12:34:26" "01723" "2013-06-19 13:02:02" "SEQ" "RNA" "" ""
"0000261830" "00260725" "1" "00000" "01723" "2012-08-09 14:40:52" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261831" "00260726" "1" "00000" "01723" "2012-08-09 14:45:10" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261832" "00260727" "1" "00000" "01723" "2012-08-09 14:53:42" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261833" "00260728" "1" "00000" "01723" "2012-08-09 14:58:53" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261834" "00260729" "1" "00000" "01723" "2012-05-23 13:28:55" "01723" "2013-06-19 12:54:22" "SEQ" "RNA" "" ""
"0000261835" "00260730" "1" "00000" "01723" "2012-05-23 17:30:00" "01723" "2013-06-19 13:08:52" "SEQ" "RNA" "" ""
"0000261836" "00260731" "1" "00000" "01723" "2012-08-09 10:43:54" "01723" "2013-06-19 11:53:47" "?" "?" "" ""
"0000261837" "00260732" "1" "00000" "01723" "2012-08-09 09:57:09" "01723" "2016-07-13 13:34:52" "SEQ" "RNA" "" ""
"0000261838" "00260733" "1" "00000" "01723" "2012-05-23 13:01:03" "01723" "2016-01-06 11:32:58" "SEQ" "RNA" "" ""
"0000261839" "00260734" "1" "00000" "01723" "2012-08-09 10:08:16" "01723" "2016-01-06 11:37:26" "SEQ" "DNA" "" ""
"0000261840" "00260735" "1" "00000" "01723" "2012-08-09 15:11:27" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261841" "00260736" "1" "00000" "01723" "2012-08-09 15:23:42" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261842" "00260737" "1" "00000" "01723" "2012-08-09 15:25:47" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261843" "00260738" "1" "00000" "01723" "2012-08-09 15:28:26" "01723" "2013-06-19 11:52:40" "SEQ" "RNA" "" ""
"0000261844" "00260739" "1" "00000" "01723" "2012-08-09 15:36:40" "01723" "2013-06-19 13:19:34" "SEQ" "RNA" "" ""
"0000261845" "00260740" "1" "00000" "01723" "2012-05-23 16:27:29" "01723" "2013-06-19 11:51:53" "SEQ" "DNA" "" ""
"0000261846" "00260741" "1" "00000" "01723" "2012-08-09 13:08:09" "01723" "2013-06-19 11:58:23" "SEQ" "DNA" "" ""
"0000261847" "00260742" "1" "00000" "01723" "2012-05-23 12:35:10" "01723" "2013-06-19 11:59:09" "SEQ" "RNA" "" ""
"0000261848" "00260743" "1" "00000" "01723" "2012-05-23 12:47:43" "01723" "2013-06-19 11:59:09" "SEQ" "RNA" "" ""
"0000261849" "00260744" "1" "00000" "01723" "2012-05-23 16:15:55" "01723" "2013-06-19 11:59:59" "SEQ" "RNA" "" ""
"0000261850" "00260745" "1" "00000" "01723" "2012-08-09 10:00:45" "01723" "2015-09-21 11:39:50" "SEQ" "RNA" "" ""
"0000261851" "00260746" "1" "00000" "01723" "2017-06-21 14:59:03" "" "" "SEQ" "RNA" "" ""
"0000261852" "00260747" "1" "00000" "01723" "2016-03-10 16:52:17" "" "" "SEQ" "DNA" "" ""
"0000261853" "00260748" "1" "00000" "01723" "2015-09-24 10:46:01" "" "" "SEQ" "?" "" ""
"0000261854" "00260749" "1" "00000" "01723" "2012-08-06 15:11:47" "01723" "2013-06-19 12:02:11" "SEQ" "DNA" "" ""
"0000261855" "00260750" "1" "00000" "01723" "2012-08-06 16:07:53" "01723" "2013-06-19 11:30:32" "SEQ" "DNA" "" ""
"0000261856" "00260751" "1" "00000" "01723" "2012-08-09 12:05:46" "01723" "2013-06-19 12:03:23" "SEQ" "?" "" ""
"0000261857" "00260752" "1" "00000" "01723" "2015-09-21 12:57:33" "01723" "2015-09-21 15:39:25" "?" "?" "" ""
"0000261858" "00260753" "1" "00000" "01723" "2015-09-21 14:36:46" "01723" "2017-03-14 17:07:46" "SEQ" "?" "" ""
"0000261859" "00260754" "1" "00000" "01723" "2012-05-24 10:20:15" "01723" "2013-06-19 12:56:06" "?" "?" "" ""
"0000261860" "00260755" "1" "00000" "01723" "2012-08-06 13:42:29" "01723" "2013-06-19 12:04:23" "SEQ" "DNA" "" ""
"0000261861" "00260756" "1" "00000" "01723" "2017-04-20 11:26:31" "" "" "SEQ" "DNA" "" ""
"0000261862" "00260757" "1" "00000" "01723" "2015-09-21 13:17:01" "01723" "2015-09-21 13:24:04" "SEQ" "?" "" ""
"0000261863" "00260758" "1" "00000" "01723" "2017-03-14 13:55:55" "" "" "SEQ" "DNA" "" ""
"0000261864" "00260759" "1" "00000" "01723" "2012-08-09 12:48:43" "01723" "2015-09-21 11:45:27" "SEQ" "?" "" ""
"0000261865" "00260760" "1" "00000" "01723" "2017-03-14 10:33:58" "01723" "2017-06-21 14:31:43" "SEQ" "DNA" "" ""
"0000261866" "00260761" "1" "00000" "01723" "2016-03-10 17:17:19" "" "" "SEQ" "DNA" "" ""
"0000261867" "00260762" "1" "00000" "01723" "2012-08-09 16:02:05" "01723" "2013-06-19 12:13:45" "SEQ" "DNA" "" ""
"0000295159" "00293991" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000325359" "00324169" "1" "01723" "01723" "2020-12-03 18:51:47" "" "" "SEQ-NG" "DNA" "" ""
"0000325360" "00324170" "1" "01723" "01723" "2020-12-03 20:00:37" "" "" "?" "DNA" "" ""
"0000325361" "00324171" "1" "01723" "01723" "2020-12-03 21:01:45" "" "" "SEQ" "DNA" "" ""
"0000325362" "00324172" "1" "01723" "01723" "2020-12-03 21:19:11" "" "" "?" "DNA" "" ""
"0000325363" "00324173" "1" "01723" "01723" "2020-12-03 21:36:40" "" "" "?" "DNA" "" ""
"0000325364" "00324174" "1" "01723" "01723" "2020-12-03 21:59:04" "" "" "?" "DNA" "" ""
"0000325365" "00324175" "1" "01723" "01723" "2020-12-03 22:02:46" "" "" "?" "DNA" "" ""
"0000325366" "00324176" "1" "01723" "01723" "2020-12-03 22:08:48" "" "" "?" "DNA" "" ""
"0000325367" "00324177" "1" "01723" "01723" "2020-12-03 22:14:17" "" "" "?" "DNA" "" ""
"0000325368" "00324178" "1" "01723" "01723" "2020-12-03 22:27:24" "" "" "SEQ" "DNA" "" ""
"0000325369" "00324179" "1" "01723" "01723" "2020-12-03 22:54:04" "" "" "?" "DNA" "" ""
"0000336248" "00335019" "1" "04011" "04011" "2021-03-03 03:07:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 117
"{{screeningid}}" "{{geneid}}"
"0000261763" "IFNGR1"
"0000261763" "IL12RB1"
"0000261764" "IFNGR1"
"0000261765" "IFNGR1"
"0000261766" "IFNGR1"
"0000261767" "IFNGR1"
"0000261768" "IFNGR1"
"0000261769" "IFNGR1"
"0000261770" "IFNGR1"
"0000261771" "IFNGR1"
"0000261772" "IFNGR1"
"0000261773" "IFNGR1"
"0000261774" "IFNGR1"
"0000261775" "IFNGR1"
"0000261776" "IFNGR1"
"0000261777" "IFNGR1"
"0000261778" "IFNGR1"
"0000261779" "IFNGR1"
"0000261780" "IFNGR1"
"0000261781" "IFNGR1"
"0000261782" "IFNGR1"
"0000261783" "IFNGR1"
"0000261784" "IFNGR1"
"0000261785" "IFNGR1"
"0000261786" "IFNGR1"
"0000261787" "IFNGR1"
"0000261788" "IFNGR1"
"0000261789" "IFNGR1"
"0000261790" "IFNGR1"
"0000261791" "IFNGR1"
"0000261792" "IFNGR1"
"0000261793" "IFNGR1"
"0000261794" "IFNGR1"
"0000261795" "IFNGR1"
"0000261796" "IFNGR1"
"0000261797" "IFNGR1"
"0000261798" "IFNGR1"
"0000261799" "IFNGR1"
"0000261800" "IFNGR1"
"0000261801" "IFNGR1"
"0000261802" "IFNGR1"
"0000261803" "IFNGR1"
"0000261804" "IFNGR1"
"0000261805" "IFNGR1"
"0000261806" "IFNGR1"
"0000261807" "IFNGR1"
"0000261808" "IFNGR1"
"0000261809" "IFNGR1"
"0000261810" "IFNGR1"
"0000261811" "IFNGR1"
"0000261812" "IFNGR1"
"0000261813" "IFNGR1"
"0000261814" "IFNGR1"
"0000261815" "IFNGR1"
"0000261816" "IFNGR1"
"0000261817" "IFNGR1"
"0000261818" "IFNGR1"
"0000261819" "IFNGR1"
"0000261820" "IFNGR1"
"0000261821" "IFNGR1"
"0000261822" "IFNGR1"
"0000261823" "IFNGR1"
"0000261824" "IFNGR1"
"0000261825" "IFNGR1"
"0000261826" "IFNGR1"
"0000261827" "IFNGR1"
"0000261828" "IFNGR1"
"0000261829" "IFNGR1"
"0000261830" "IFNGR1"
"0000261831" "IFNGR1"
"0000261832" "IFNGR1"
"0000261833" "IFNGR1"
"0000261834" "IFNGR1"
"0000261835" "IFNGR1"
"0000261836" "IFNGR1"
"0000261837" "IFNGR1"
"0000261838" "IFNGR1"
"0000261839" "IFNGR1"
"0000261840" "IFNGR1"
"0000261841" "IFNGR1"
"0000261842" "IFNGR1"
"0000261843" "IFNGR1"
"0000261844" "IFNGR1"
"0000261845" "IFNGR1"
"0000261846" "IFNGR1"
"0000261847" "IFNGR1"
"0000261848" "IFNGR1"
"0000261849" "IFNGR1"
"0000261850" "IFNGR1"
"0000261851" "IFNGR1"
"0000261852" "IFNGR1"
"0000261853" "IFNGR1"
"0000261854" "IFNGR1"
"0000261855" "IFNGR1"
"0000261856" "IFNGR1"
"0000261857" "IFNGR1"
"0000261858" "IFNGR1"
"0000261859" "IFNGR1"
"0000261860" "IFNGR1"
"0000261861" "IFNGR1"
"0000261862" "IFNGR1"
"0000261863" "IFNGR1"
"0000261864" "IFNGR1"
"0000261865" "IFNGR1"
"0000261866" "IFNGR1"
"0000261867" "IFNGR1"
"0000325359" "IFNGR1"
"0000325360" "IFNGR1"
"0000325361" "IFNGR1"
"0000325362" "IFNGR1"
"0000325363" "IFNGR1"
"0000325364" "IFNGR1"
"0000325365" "IFNGR1"
"0000325366" "IFNGR1"
"0000325367" "IFNGR1"
"0000325368" "IFNGR1"
"0000325369" "IFNGR1"
## 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 = 455
"{{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}}"
"0000249081" "0" "10" "6" "137540370" "137540370" "subst" "0.429987" "02325" "IFNGR1_000345" "g.137540370A>G" "" "" "" "IFNGR1(NM_000416.3):c.85+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137219233A>G" "" "benign" ""
"0000251910" "0" "30" "6" "137519238" "137519238" "subst" "0.051803" "02326" "IFNGR1_000043" "g.137519238A>G" "" "" "" "IFNGR1(NM_000416.2):c.1400T>C (p.L467P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137198101A>G" "" "likely benign" ""
"0000254517" "0" "30" "6" "137524656" "137524656" "subst" "8.12539E-6" "01943" "IFNGR1_000195" "g.137524656A>G" "" "" "" "IFNGR1(NM_000416.2):c.713T>C (p.I238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137203519A>G" "" "likely benign" ""
"0000281481" "0" "10" "6" "137524884" "137524884" "dup" "0" "02325" "IFNGR1_000344" "g.137524884dup" "" "" "" "IFNGR1(NM_000416.2):c.547-49dupT, IFNGR1(NM_000416.3):c.547-49dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137203747dup" "" "benign" ""
"0000281482" "0" "10" "6" "137519780" "137519780" "subst" "0.118195" "02325" "IFNGR1_000343" "g.137519780T>C" "" "" "" "IFNGR1(NM_000416.2):c.862-4A>G, IFNGR1(NM_000416.3):c.862-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137198643T>C" "" "benign" ""
"0000289420" "0" "30" "6" "137519297" "137519297" "subst" "0.00143838" "01943" "IFNGR1_000081" "g.137519297G>A" "" "" "" "IFNGR1(NM_000416.2):c.1341C>T (p.T447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137198160G>A" "" "likely benign" ""
"0000289421" "0" "90" "6" "137527272" "137527272" "subst" "4.06283E-6" "01943" "IFNGR1_000011" "g.137527272C>A" "" "" "" "IFNGR1(NM_000416.2):c.373+1G>T, IFNGR1(NM_000416.3):c.373+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137206135C>A" "" "pathogenic" ""
"0000345455" "0" "50" "6" "137519179" "137519179" "subst" "0" "02327" "IFNGR1_000053" "g.137519179C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137198042C>A" "" "VUS" ""
"0000527325" "0" "30" "6" "137519582" "137519582" "subst" "4.87472E-5" "01943" "IFNGR1_000045" "g.137519582T>C" "" "" "" "IFNGR1(NM_000416.2):c.1056A>G (p.I352M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137198445T>C" "" "likely benign" ""
"0000527326" "0" "30" "6" "137525493" "137525493" "subst" "0.00124747" "02326" "IFNGR1_000239" "g.137525493C>T" "" "" "" "IFNGR1(NM_000416.2):c.522G>A (p.V174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137204356C>T" "" "likely benign" ""
"0000527327" "0" "90" "6" "137527446" "137527446" "subst" "0" "01943" "IFNGR1_000342" "g.137527446C>G" "" "" "" "IFNGR1(NM_000416.2):c.201-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137206309C>G" "" "pathogenic" ""
"0000591584" "0" "11" "6" "137540520" "137540520" "subst" "0" "00000" "IFNGR1_000341" "g.137540520A>G" "0.498" "" "" "" "variant was found to be associated with chronic hepatitis B virus infection {PMID19488747:Zhou 2009}, with antibody production against Helicobacter Pylori {PMID12516030:Thye 2003}, and with increased risk for Tuberculosis {PMID16690980:Cooke 2006} and {PMID17431682:Stein 2007}.This variant is also associated with outcome of or susceptibility to various other diseases." "Unknown" "" "rs2234711" "0" "" "" "g.137219383A>G" "" "benign" ""
"0000591585" "3" "99" "6" "137173766" "137292992" "del" "0" "00000" "IFNGR1_000039" "g.137173766_137292992del" "" "{PMID:de Vor 2016:26931784}" "" "complete IFNGR1 deletion" "The first and last nucleotides of the deletion are: 137,173,766 and 137,292,992 H. sapiens chromosome 6, GRCh38.p2 Primary Assembly" "Germline" "" "" "0" "" "" "g.136852627_136971853del" "" "pathogenic (recessive)" ""
"0000591586" "3" "99" "6" "137540463" "137540463" "subst" "2.2048E-5" "00000" "IFNGR1_000031" "g.137540463A>T" "" "{PMID:Kong 2010:19880857}" "" "" "severe partial mutation. depending on cell type M1K may be a leaky start site" "Germline" "" "" "0" "" "" "g.137219326A>T" "" "pathogenic (recessive)" ""
"0000591587" "0" "55" "6" "137540463" "137540463" "subst" "8.8192E-6" "00000" "IFNGR1_000340" "g.137540463A>C" "0.000" "" "" "" "" "Unknown" "" "rs387906593" "0" "" "" "g.137219326A>C" "" "VUS" ""
"0000591588" "0" "55" "6" "137540461" "137540461" "subst" "0" "00000" "IFNGR1_000339" "g.137540461C>T" "N.D." "" "" "" "" "Unknown" "" "rs1018508960" "0" "" "" "g.137219324C>T" "" "VUS" ""
"0000591589" "0" "55" "6" "137540460" "137540460" "subst" "2.1892E-5" "00000" "IFNGR1_000338" "g.137540460G>C" "0.0002" "" "" "" "" "Unknown" "" "rs121913172" "0" "" "" "g.137219323G>C" "" "VUS" ""
"0000591590" "0" "55" "6" "137540460" "137540460" "subst" "0" "00000" "IFNGR1_000001" "g.137540460G>A" "0.008" "{PMID:Manry 2011:21448974}" "" "" "polymorphism?; effect not determinedrs121913172 {dbSNP121913172}" "Unknown" "" "" "0" "" "" "g.137219323G>A" "" "VUS" ""
"0000591591" "0" "75" "6" "137540460" "137540460" "subst" "0" "00000" "IFNGR1_000047" "g.137540460G>A" "" "{PMID:Manry 2011:21448974}" "" "" "" "Unknown" "" "rs121913172" "0" "" "" "g.137219323G>A" "" "likely pathogenic" ""
"0000591592" "0" "55" "6" "137540456" "137540456" "subst" "4.33261E-6" "00000" "IFNGR1_000337" "g.137540456G>C" "0.000" "" "" "" "" "Unknown" "" "rs773885039" "0" "" "" "g.137219319G>C" "" "VUS" ""
"0000591593" "0" "55" "6" "137540453" "137540453" "subst" "8.608E-6" "00000" "IFNGR1_000336" "g.137540453G>A" "0.000" "" "" "" "" "Unknown" "" "rs770546541" "0" "" "" "g.137219316G>A" "" "VUS" ""
"0000591594" "0" "55" "6" "137540452" "137540452" "subst" "0" "00000" "IFNGR1_000335" "g.137540452A>G" "0.000" "" "" "" "" "Unknown" "" "rs749066245" "0" "" "" "g.137219315A>G" "" "VUS" ""
"0000591595" "0" "55" "6" "137540440" "137540440" "subst" "4.22326E-6" "00000" "IFNGR1_000334" "g.137540440G>C" "0.000" "" "" "" "" "Unknown" "" "rs777571593" "0" "" "" "g.137219303G>C" "" "VUS" ""
"0000591596" "3" "99" "6" "137540443" "137540443" "del" "0" "00000" "IFNGR1_000006" "g.137540443del" "" "{PMID:Holland 1998:9806040}" "" "22delC" "" "Germline" "" "" "0" "" "" "g.137219306del" "" "pathogenic (recessive)" ""
"0000591597" "0" "55" "6" "137540439" "137540439" "subst" "2.53492E-5" "00000" "IFNGR1_000333" "g.137540439A>T" "0.000" "" "" "" "" "Unknown" "" "rs201275515" "0" "" "" "g.137219302A>T" "" "VUS" ""
"0000591598" "0" "53" "6" "137540435" "137540435" "subst" "0" "00000" "IFNGR1_000332" "g.137540435G>A" "0.000" "" "" "" "" "Unknown" "" "rs748134660" "0" "" "" "g.137219298G>A" "" "VUS" ""
"0000591599" "0" "53" "6" "137540434" "137540434" "subst" "0.000105177" "00000" "IFNGR1_000331" "g.137540434T>A" "0.000" "" "" "" "" "Unknown" "" "rs781270900" "0" "" "" "g.137219297T>A" "" "VUS" ""
"0000591600" "0" "53" "6" "137540427" "137540427" "subst" "0" "00000" "IFNGR1_000330" "g.137540427C>A" "0.0004" "" "" "" "" "Unknown" "" "rs559569459" "0" "" "" "g.137219290C>A" "" "VUS" ""
"0000591601" "0" "11" "6" "137540425" "137540425" "subst" "0.00133122" "00000" "IFNGR1_000040" "g.137540425C>T" "" "" "" "" "polymorphism, functional analysis: {PMID20015550:van de Wetering 2010} and {PMID26343451:Gao 2015}" "Unknown" "" "rs11575936" "0" "" "" "g.137219288C>T" "" "benign" ""
"0000591602" "0" "53" "6" "137540423" "137540423" "subst" "0.00587083" "00000" "IFNGR1_000328" "g.137540423C>T" "0.0044" "" "" "" "" "Unknown" "" "rs17181471" "0" "" "" "g.137219286C>T" "" "VUS" ""
"0000591603" "0" "53" "6" "137540419" "137540419" "subst" "4.17872E-6" "00000" "IFNGR1_000327" "g.137540419T>G" "0.000" "" "" "" "" "Unknown" "" "rs758608616" "0" "" "" "g.137219282T>G" "" "VUS" ""
"0000591604" "0" "53" "6" "137540417" "137540417" "subst" "0.00107921" "00000" "IFNGR1_000326" "g.137540417C>T" "0.0036" "" "" "" "" "Unknown" "" "rs11575931" "0" "" "" "g.137219280C>T" "" "VUS" ""
"0000591605" "0" "55" "6" "137540413" "137540413" "subst" "0" "00000" "IFNGR1_000325" "g.137540413C>T" "N.D." "" "" "" "effect under evaluation" "Unknown" "" "rs868340562" "0" "" "" "g.137219276C>T" "" "VUS" ""
"0000591606" "0" "53" "6" "137540407" "137540407" "subst" "8.37395E-6" "00000" "IFNGR1_000324" "g.137540407C>G" "0.000" "" "" "" "" "Unknown" "" "rs765685150" "0" "" "" "g.137219270C>G" "" "VUS" ""
"0000591607" "0" "53" "6" "137540402" "137540402" "subst" "0" "00000" "IFNGR1_000323" "g.137540402G>A" "0.000" "" "" "" "" "Unknown" "" "rs762138261" "0" "" "" "g.137219265G>A" "" "VUS" ""
"0000591608" "0" "57" "6" "137540400" "137540400" "subst" "0" "00000" "IFNGR1_000322" "g.137540400G>A" "0.000" "" "" "" "" "Unknown" "" "rs754412960" "0" "" "" "g.137219263G>A" "" "VUS" ""
"0000591609" "0" "53" "6" "137540392" "137540392" "subst" "0" "00000" "IFNGR1_000321" "g.137540392C>G" "0.000" "" "" "" "" "Unknown" "" "rs369659162" "0" "" "" "g.137219255C>G" "" "VUS" ""
"0000591610" "0" "57" "6" "137540389" "137540389" "subst" "0" "00000" "IFNGR1_000320" "g.137540389G>A" "N.D." "" "" "" "" "Unknown" "" "rs867829701" "0" "" "" "g.137219252G>A" "" "VUS" ""
"0000591611" "0" "53" "6" "137540388" "137540388" "subst" "0" "00000" "IFNGR1_000319" "g.137540388G>A" "0.000" "" "" "" "" "Unknown" "" "rs768232887" "0" "" "" "g.137219251G>A" "" "VUS" ""
"0000591612" "0" "57" "6" "137540385" "137540385" "subst" "0" "00000" "IFNGR1_000318" "g.137540385G>A" "0.000" "" "" "" "" "Unknown" "" "rs770509341" "0" "" "" "g.137219248G>A" "" "VUS" ""
"0000591613" "0" "53" "6" "137540384" "137540384" "subst" "0" "00000" "IFNGR1_000317" "g.137540384G>A" "0.000" "" "" "" "" "Unknown" "" "rs762714191" "0" "" "" "g.137219247G>A" "" "VUS" ""
"0000591614" "0" "53" "6" "137540381" "137540381" "subst" "8.98188E-5" "00000" "IFNGR1_000316" "g.137540381T>C" "0.000" "" "" "" "" "Unknown" "" "rs201996266" "0" "" "" "g.137219244T>C" "" "VUS" ""
"0000591615" "0" "53" "6" "137528208" "137528208" "subst" "3.25132E-5" "00000" "IFNGR1_000315" "g.137528208G>C" "0.000" "" "" "" "" "Unknown" "" "rs370074491" "0" "" "" "g.137207071G>C" "" "VUS" ""
"0000591616" "0" "53" "6" "137528207" "137528207" "subst" "4.06388E-6" "00000" "IFNGR1_000314" "g.137528207T>A" "0.000" "" "" "" "" "Unknown" "" "rs771850288" "0" "" "" "g.137207070T>A" "" "VUS" ""
"0000591617" "0" "53" "6" "137528204" "137528204" "subst" "4.06289E-6" "00000" "IFNGR1_000313" "g.137528204T>G" "0.000" "" "" "" "" "Unknown" "" "rs745988398" "0" "" "" "g.137207067T>G" "" "VUS" ""
"0000591618" "0" "57" "6" "137528200" "137528200" "subst" "6.90703E-5" "00000" "IFNGR1_000312" "g.137528200T>C" "0.0004" "" "" "" "" "Unknown" "" "rs555180897" "0" "" "" "g.137207063T>C" "" "VUS" ""
"0000591619" "11" "97" "6" "137528193" "137528196" "dup" "0" "00000" "IFNGR1_000007" "g.137528193_137528196dup" "" "{PMID:Altare 1998:9497247}" "" "107ins4" "" "Germline" "" "" "0" "" "" "g.137207056_137207059dup" "" "pathogenic (recessive)" ""
"0000591620" "3" "99" "6" "137528196" "137528196" "dup" "0" "00000" "IFNGR1_000023" "g.137528196dup" "" "{PMID:Dorman 2004:15589309}" "" "105insT" "" "Germline" "" "" "0" "" "" "g.137207059dup" "" "pathogenic (recessive)" ""
"0000591621" "3" "99" "6" "137528196" "137528196" "dup" "0" "00000" "IFNGR1_000023" "g.137528196dup" "" "{PMID:Edeer Karaca 2012:23194362}" "" "106insT" "" "Germline" "" "" "0" "" "" "g.137207059dup" "" "pathogenic" ""
"0000591622" "1" "99" "6" "137528193" "137528194" "ins" "0" "00000" "IFNGR1_000025" "g.137528193_137528194insA" "" "{PMID:Dorman 2004:15589309}" "" "" "" "Germline" "" "" "0" "" "" "g.137207056_137207057insA" "" "pathogenic (recessive)" ""
"0000591623" "0" "57" "6" "137528190" "137528190" "subst" "0" "00000" "IFNGR1_000311" "g.137528190A>G" "N.D." "" "" "" "" "Unknown" "" "rs945137618" "0" "" "" "g.137207053A>G" "" "VUS" ""
"0000591624" "21" "99" "6" "137528190" "137528190" "subst" "0" "00000" "IFNGR1_000311" "g.137528190A>G" "" "E. van de Vosse -unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.137207053A>G" "" "pathogenic" ""
"0000591625" "0" "53" "6" "137528189" "137528189" "subst" "0" "00000" "IFNGR1_000310" "g.137528189A>G" "N.D." "" "" "" "" "Unknown" "" "rs762424077" "0" "" "" "g.137207052A>G" "" "VUS" ""
"0000591626" "3" "97" "6" "137528165" "137528186" "del" "0" "00000" "IFNGR1_000038" "g.137528165_137528186del" "" "{PMID:Wang 2014:24969940}" "" "" "(effect according to abstract: Glu38fsX54)" "Germline" "" "" "0" "" "" "g.137207028_137207049del" "" "pathogenic (recessive)" ""
"0000591627" "0" "53" "6" "137528183" "137528183" "subst" "4.06256E-6" "00000" "IFNGR1_000309" "g.137528183G>A" "0.000" "" "" "" "" "Unknown" "" "rs770973014" "0" "" "" "g.137207046G>A" "" "VUS" ""
"0000591628" "0" "57" "6" "137528170" "137528170" "subst" "4.0624E-6" "00000" "IFNGR1_000308" "g.137528170G>A" "0.000" "" "" "" "" "Unknown" "" "rs749548839" "0" "" "" "g.137207033G>A" "" "VUS" ""
"0000591629" "0" "57" "6" "137528169" "137528169" "subst" "0" "00000" "IFNGR1_000307" "g.137528169G>C" "N.D." "" "" "" "" "Unknown" "" "rs866902738" "0" "" "" "g.137207032G>C" "" "VUS" ""
"0000591630" "3" "99" "6" "137528171" "137528171" "del" "0" "00000" "IFNGR1_000003" "g.137528171del" "" "{PMID:Jouanguy 1996:8960475}" "" "131delC" "" "Germline" "" "" "0" "" "" "g.137207034del" "" "pathogenic (recessive)" ""
"0000591631" "0" "53" "6" "137528167" "137528167" "subst" "2.84349E-5" "00000" "IFNGR1_000306" "g.137528167T>C" "0.000" "" "" "" "" "Unknown" "" "rs777965499" "0" "" "" "g.137207030T>C" "" "VUS" ""
"0000591632" "0" "53" "6" "137528165" "137528165" "subst" "4.0621E-5" "00000" "IFNGR1_000305" "g.137528165G>A" "0.000" "" "" "" "" "Unknown" "" "rs148104171" "0" "" "" "g.137207028G>A" "" "VUS" ""
"0000591633" "0" "53" "6" "137528164" "137528164" "subst" "0.00027623" "00000" "IFNGR1_000304" "g.137528164C>T" "0.0008" "" "" "" "" "Unknown" "" "rs538147969" "0" "" "" "g.137207027C>T" "" "VUS" ""
"0000591634" "0" "53" "6" "137528161" "137528161" "subst" "4.0619E-6" "00000" "IFNGR1_000303" "g.137528161A>G" "0.000" "" "" "" "" "Unknown" "" "rs781724626" "0" "" "" "g.137207024A>G" "" "VUS" ""
"0000591635" "0" "57" "6" "137528148" "137528157" "del" "0" "00000" "IFNGR1_000301" "g.137528148_137528157del" "0.000" "" "" "" "" "Unknown" "" "rs779191331" "0" "" "" "g.137207011_137207020del" "" "VUS" ""
"0000591636" "0" "57" "6" "137528148" "137528148" "subst" "1.62489E-5" "00000" "IFNGR1_000302" "g.137528148T>C" "0.000" "" "" "" "" "Unknown" "" "rs375024435" "0" "" "" "g.137207011T>C" "" "VUS" ""
"0000591637" "0" "53" "6" "137528144" "137528144" "subst" "4.0625E-6" "00000" "IFNGR1_000300" "g.137528144G>A" "0.000" "" "" "" "" "Unknown" "" "rs749976277" "0" "" "" "g.137207007G>A" "" "VUS" ""
"0000591638" "0" "53" "6" "137528141" "137528141" "subst" "4.06273E-6" "00000" "IFNGR1_000299" "g.137528141C>T" "0.000" "" "" "" "" "Unknown" "" "rs778617419" "0" "" "" "g.137207004C>T" "" "VUS" ""
"0000591639" "0" "57" "6" "137528136" "137528136" "subst" "4.06256E-6" "00000" "IFNGR1_000298" "g.137528136T>C" "0.0002" "" "" "" "" "Unknown" "" "rs561031447" "0" "" "" "g.137206999T>C" "" "VUS" ""
"0000591640" "0" "57" "6" "137528135" "137528135" "subst" "4.06273E-6" "00000" "IFNGR1_000297" "g.137528135C>G" "0.0002" "" "" "" "" "Unknown" "" "rs544637873" "0" "" "" "g.137206998C>G" "" "VUS" ""
"0000591641" "3" "97" "6" "137528135" "137528135" "del" "0" "00000" "IFNGR1_000052" "g.137528135del" "" "{PMID:Cunningham 2000:10949334}" "" "" "" "Germline" "" "" "0" "" "" "g.137206998del" "" "pathogenic" ""
"0000591642" "0" "53" "6" "137528133" "137528133" "subst" "2.0313E-5" "00000" "IFNGR1_000296" "g.137528133A>C" "0.000" "" "" "" "" "Unknown" "" "rs763644961" "0" "" "" "g.137206996A>C" "" "VUS" ""
"0000591643" "3" "99" "6" "137528132" "137528132" "del" "0" "00000" "IFNGR1_000024" "g.137528132del" "" "{PMID:Dorman 2004:15589309}" "" "168delC" "" "Germline" "" "" "0" "" "" "g.137206995del" "" "pathogenic (recessive)" ""
"0000591644" "0" "53" "6" "137528120" "137528120" "subst" "1.21903E-5" "00000" "IFNGR1_000295" "g.137528120G>A" "0.000" "" "" "" "" "Unknown" "" "rs760535699" "0" "" "" "g.137206983G>A" "" "VUS" ""
"0000591645" "0" "11" "6" "137528119" "137528119" "subst" "0.00072737" "00000" "IFNGR1_000041" "g.137528119C>T" "" "" "" "" "polymorphism, functional analysis: {PMID20015550:van de Wetering 2010}" "Unknown" "" "rs17175322" "0" "" "" "g.137206982C>T" "" "benign" ""
"0000591646" "1" "99" "6" "137528118" "137528118" "subst" "0" "00000" "IFNGR1_000015" "g.137528118A>T" "" "{PMID:Jouanguy 2000:10811850}" "" "182T>A => Val61Gln" "indicated in article as V61Q but should be: V61E" "Germline" "" "" "0" "" "" "g.137206981A>T" "" "pathogenic (recessive)" ""
"0000591647" "0" "57" "6" "137528118" "137528118" "subst" "1.62522E-5" "00000" "IFNGR1_000293" "g.137528118A>G" "0.000" "" "" "" "" "Unknown" "" "rs121912715" "0" "" "" "g.137206981A>G" "" "VUS" ""
"0000591648" "0" "57" "6" "137528116" "137528116" "subst" "0" "00000" "IFNGR1_000292" "g.137528116C>T" "N.D." "" "" "" "" "Unknown" "" "rs995097591" "0" "" "" "g.137206979C>T" "" "VUS" ""
"0000591649" "3" "99" "6" "137528112" "137528112" "subst" "0" "00000" "IFNGR1_000019" "g.137528112A>C" "" "" "" "T188G" "" "Germline" "" "" "0" "" "" "g.137206975A>C" "" "pathogenic (recessive)" ""
"0000591650" "3" "99" "6" "137528112" "137528112" "subst" "0" "00000" "IFNGR1_000019" "g.137528112A>C" "" "{PMID:Sologuren 2011:21266457}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.137206975A>C" "" "pathogenic" ""
"0000591651" "3" "99" "6" "137528112" "137528112" "subst" "0" "00000" "IFNGR1_000019" "g.137528112A>C" "" "{PMID:Sologuren 2011:21266457}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.137206975A>C" "" "pathogenic" ""
"0000591652" "3" "99" "6" "137528112" "137528112" "subst" "0" "00000" "IFNGR1_000019" "g.137528112A>C" "" "{PMID:Sologuren 2011:21266457}" "" "T188G" "partial defect" "Germline" "" "" "0" "" "" "g.137206975A>C" "" "pathogenic" ""
"0000591653" "3" "99" "6" "137528112" "137528112" "subst" "0" "00000" "IFNGR1_000019" "g.137528112A>C" "" "{PMID:Sologuren 2011:21266457}" "" "T188G" "partial defect" "Germline" "" "" "0" "" "" "g.137206975A>C" "" "pathogenic" ""
"0000591654" "2" "99" "6" "137528103" "137528103" "subst" "0" "00000" "IFNGR1_000026" "g.137528103T>C" "" "{PMID:Dorman 2004:15589309}" "" "" "" "Germline" "" "" "0" "" "" "g.137206966T>C" "" "pathogenic (recessive)" ""
"0000591655" "0" "57" "6" "137528103" "137528103" "subst" "0" "00000" "IFNGR1_000291" "g.137528103T>A" "N.D." "" "" "" "" "Unknown" "" "rs867775070" "0" "" "" "g.137206966T>A" "" "VUS" ""
"0000591656" "21" "97" "6" "137528099" "137528099" "subst" "0" "00000" "IFNGR1_000008" "g.137528099C>T" "" "{PMID:Altare 1998:9497247}" "" "" "" "Germline" "" "" "0" "" "" "g.137206962C>T" "" "pathogenic (recessive)" ""
"0000591657" "3" "99" "6" "137527447" "137527447" "subst" "0" "00000" "IFNGR1_000005" "g.137527447T>C" "" "{PMID:Holland 1998:9806040}" "" "" "" "Germline" "" "" "0" "" "" "g.137206310T>C" "" "pathogenic (recessive)" ""
"0000591658" "0" "53" "6" "137527433" "137527433" "subst" "0" "00000" "IFNGR1_000290" "g.137527433T>G" "N.D." "" "" "" "" "Unknown" "" "rs751242205" "0" "" "" "g.137206296T>G" "" "VUS" ""
"0000591659" "0" "53" "6" "137527430" "137527430" "subst" "0.00045162" "00000" "IFNGR1_000289" "g.137527430T>C" "0.0008" "" "" "" "" "Unknown" "" "rs141574133" "0" "" "" "g.137206293T>C" "" "VUS" ""
"0000591660" "0" "53" "6" "137527424" "137527424" "subst" "4.0663E-6" "00000" "IFNGR1_000288" "g.137527424A>T" "0.000" "" "" "" "" "Unknown" "" "rs763024620" "0" "" "" "g.137206287A>T" "" "VUS" ""
"0000591661" "0" "57" "6" "137527422" "137527422" "subst" "8.13292E-6" "00000" "IFNGR1_000287" "g.137527422T>A" "0.000" "" "" "" "" "Unknown" "" "rs770076728" "0" "" "" "g.137206285T>A" "" "VUS" ""
"0000591662" "0" "57" "6" "137527420" "137527420" "subst" "0" "00000" "IFNGR1_000286" "g.137527420C>T" "N.D." "" "" "" "" "Unknown" "" "rs1026353199" "0" "" "" "g.137206283C>T" "" "VUS" ""
"0000591663" "0" "53" "6" "137527419" "137527419" "subst" "4.06583E-6" "00000" "IFNGR1_000285" "g.137527419G>A" "0.000" "" "" "" "" "Unknown" "" "rs761991376" "0" "" "" "g.137206282G>A" "" "VUS" ""
"0000591664" "3" "99" "6" "137527416" "137527416" "subst" "0" "00000" "IFNGR1_000014" "g.137527416C>T" "" "{PMID:Jouanguy 2000:10811850}" "" "" "" "Germline" "" "" "0" "" "" "g.137206279C>T" "" "pathogenic (recessive)" ""
"0000591665" "3" "99" "6" "137527416" "137527416" "subst" "0" "00000" "IFNGR1_000028" "g.137527416C>A" "" "{PMID:Chantrain 2006:16715106}" "" "C77F, muation not specified" "" "Germline" "" "" "0" "" "" "g.137206279C>A" "" "pathogenic (recessive)" ""
"0000591666" "0" "57" "6" "137527410" "137527410" "subst" "0.000162596" "00000" "IFNGR1_000284" "g.137527410T>C" "0.0002" "" "" "" "" "Unknown" "" "rs377227464" "0" "" "" "g.137206273T>C" "" "VUS" ""
"0000591667" "0" "53" "6" "137527400" "137527400" "subst" "4.06451E-6" "00000" "IFNGR1_000283" "g.137527400A>G" "N.D." "" "" "" "" "Unknown" "" "rs559991211" "0" "" "" "g.137206263A>G" "" "VUS" ""
"0000591668" "0" "57" "6" "137527396" "137527396" "subst" "0" "00000" "IFNGR1_000282" "g.137527396A>G" "0.000" "" "" "" "" "Unknown" "" "rs374959677" "0" "" "" "g.137206259A>G" "" "VUS" ""
"0000591669" "0" "57" "6" "137527395" "137527395" "subst" "0" "00000" "IFNGR1_000281" "g.137527395T>A" "0.000" "" "" "" "" "Unknown" "" "rs180680034" "0" "" "" "g.137206258T>A" "" "VUS" ""
"0000591670" "3" "99" "6" "137527392" "137527392" "subst" "0" "00000" "IFNGR1_000027" "g.137527392C>T" "" "{PMID:Noordzij 2007:17514500}" "" "" "" "Germline" "" "" "0" "" "" "g.137206255C>T" "" "pathogenic (recessive)" ""
"0000591671" "0" "57" "6" "137527389" "137527389" "subst" "4.06421E-6" "00000" "IFNGR1_000280" "g.137527389T>C" "0.000" "" "" "" "" "Unknown" "" "rs780722787" "0" "" "" "g.137206252T>C" "" "VUS" ""
"0000591672" "0" "53" "6" "137527388" "137527388" "subst" "2.03207E-5" "00000" "IFNGR1_000279" "g.137527388A>G" "0.000" "" "" "" "" "Unknown" "" "rs772644831" "0" "" "" "g.137206251A>G" "" "VUS" ""
"0000591673" "3" "99" "6" "137527386" "137527386" "subst" "1.62561E-5" "00000" "IFNGR1_000004" "g.137527386A>G" "" "{PMID:Jouanguy 1997:9389728}" "" "" "" "Germline" "" "" "0" "" "" "g.137206249A>G" "" "pathogenic (recessive)" ""
"0000591674" "3" "99" "6" "137527386" "137527386" "subst" "1.62561E-5" "00000" "IFNGR1_000004" "g.137527386A>G" "" "{PMID:Remiszewski 2006:16195661}" "" "I87T, mutation not specified" "" "Germline" "" "" "0" "" "" "g.137206249A>G" "" "pathogenic (recessive)" ""
"0000591675" "3" "99" "6" "137527386" "137527386" "subst" "1.62561E-5" "00000" "IFNGR1_000004" "g.137527386A>G" "" "{PMID:Sologuren 2011:21266457}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.137206249A>G" "" "pathogenic (recessive)" ""
"0000591676" "3" "99" "6" "137527386" "137527386" "subst" "1.62561E-5" "00000" "IFNGR1_000004" "g.137527386A>G" "" "{PMID:Sologuren 2011:21266457}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.137206249A>G" "" "pathogenic (recessive)" ""
"0000591677" "3" "99" "6" "137527386" "137527386" "subst" "1.62561E-5" "00000" "IFNGR1_000004" "g.137527386A>G" "" "{PMID:Sologuren 2011:21266457}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.137206249A>G" "" "pathogenic (recessive)" ""
"0000591678" "3" "99" "6" "137527386" "137527386" "subst" "1.62561E-5" "00000" "IFNGR1_000004" "g.137527386A>G" "" "{PMID:Sologuren 2011:21266457}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.137206249A>G" "" "pathogenic (recessive)" ""
"0000591679" "3" "99" "6" "137527386" "137527386" "subst" "1.62561E-5" "00000" "IFNGR1_000004" "g.137527386A>G" "" "{PMID:Sologuren 2011:21266457}" "" "" "partial defect" "Germline" "" "" "0" "" "" "g.137206249A>G" "" "pathogenic (recessive)" ""
"0000591680" "0" "53" "6" "137527371" "137527371" "subst" "4.06398E-6" "00000" "IFNGR1_000280" "g.137527371C>T" "0.000" "" "" "" "" "Unknown" "" "rs777193404" "0" "" "" "g.137206234C>T" "" "VUS" ""
"0000591681" "0" "53" "6" "137527360" "137527360" "subst" "2.03189E-5" "00000" "IFNGR1_000279" "g.137527360T>C" "0.000" "" "" "" "" "Unknown" "" "rs755616208" "0" "" "" "g.137206223T>C" "" "VUS" ""
"0000591682" "3" "99" "6" "137527342" "137527353" "del" "0" "00000" "IFNGR1_000013" "g.137527342_137527353del" "" "{PMID:Jouanguy 2000:10811850}" "" "" "" "Germline" "" "" "0" "" "" "g.137206205_137206216del" "" "pathogenic (recessive)" ""
"0000591683" "0" "53" "6" "137527325" "137527325" "subst" "4.06312E-6" "00000" "IFNGR1_000278" "g.137527325T>A" "0.000" "" "" "" "" "Unknown" "" "rs747819119" "0" "" "" "g.137206188T>A" "" "VUS" ""
"0000591684" "0" "53" "6" "137527321" "137527321" "subst" "8.12565E-6" "00000" "IFNGR1_000277" "g.137527321T>C" "0.000" "" "" "" "" "Unknown" "" "rs780883054" "0" "" "" "g.137206184T>C" "" "VUS" ""
"0000591685" "0" "53" "6" "137527320" "137527320" "subst" "1.21884E-5" "00000" "IFNGR1_000276" "g.137527320T>C" "0.000" "" "" "" "" "Unknown" "" "rs754779431" "0" "" "" "g.137206183T>C" "" "VUS" ""
"0000591686" "0" "53" "6" "137527310" "137527310" "subst" "0.00021534" "00000" "IFNGR1_000275" "g.137527310G>A" "0.0018" "" "" "" "" "Unknown" "" "rs148086364" "0" "" "" "g.137206173G>A" "" "VUS" ""
"0000591687" "11" "99" "6" "137527307" "137527307" "subst" "0" "00000" "IFNGR1_000033" "g.137527307A>T" "" "{PMID:Prando 2010:20186794}" "" "Y113X, mutation deduced from fig 2" "" "Germline" "" "" "0" "" "" "g.137206170A>T" "" "pathogenic (recessive)" ""
"0000591688" "0" "53" "6" "137527301" "137527301" "subst" "8.12599E-6" "00000" "IFNGR1_000274" "g.137527301C>T" "0.000" "" "" "" "" "Unknown" "" "rs766335005" "0" "" "" "g.137206164C>T" "" "VUS" ""
"0000591689" "3" "99" "6" "137527299" "137527299" "subst" "0" "00000" "IFNGR1_000002" "g.137527299G>T" "" "{PMID:Newport 1996:8960473}" "" "395C>A" "" "Germline" "" "" "0" "" "" "g.137206162G>T" "" "pathogenic (recessive)" ""
"0000591690" "3" "99" "6" "137527299" "137527299" "subst" "0" "00000" "IFNGR1_000002" "g.137527299G>T" "" "{PMID:Newport 1996:8960473}" "" "395C>A" "" "Germline" "" "" "0" "" "" "g.137206162G>T" "" "pathogenic (recessive)" ""
"0000591691" "0" "57" "6" "137527281" "137527281" "subst" "4.0627E-6" "00000" "IFNGR1_000273" "g.137527281C>A" "0.000" "" "" "" "" "Unknown" "" "rs758283269" "0" "" "" "g.137206144C>A" "" "VUS" ""
"0000591692" "0" "53" "6" "137527278" "137527278" "subst" "2.03136E-5" "00000" "IFNGR1_000272" "g.137527278C>T" "0.000" "" "" "" "" "Unknown" "" "rs146914620" "0" "" "" "g.137206141C>T" "" "VUS" ""
"0000591693" "0" "53" "6" "137527275" "137527275" "subst" "0" "00000" "IFNGR1_000271" "g.137527275T>A" "N.D." "" "" "" "" "Unknown" "" "rs546121815" "0" "" "" "g.137206138T>A" "" "VUS" ""
"0000591694" "11" "99" "6" "137527272" "137527272" "subst" "4.06283E-6" "00000" "IFNGR1_000011" "g.137527272C>A" "" "{PMID:Roesler 1999:10480427}" "" "G>T at 5\'-end of intron 3" "" "Germline" "" "" "0" "" "" "g.137206135C>A" "" "pathogenic (recessive)" ""
"0000591695" "3" "99" "6" "137527272" "137527272" "subst" "4.06283E-6" "00000" "IFNGR1_000011" "g.137527272C>A" "" "{PMID:Noordzij 2007:17514500}" "" "" "" "Germline" "" "" "0" "" "" "g.137206135C>A" "" "pathogenic (recessive)" ""
"0000591696" "3" "99" "6" "137527272" "137527272" "subst" "4.06283E-6" "00000" "IFNGR1_000011" "g.137527272C>A" "" "E.van de Vosse - unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.137206135C>A" "" "pathogenic (recessive)" ""
"0000591697" "0" "53" "6" "137525636" "137525636" "subst" "0" "00000" "IFNGR1_000270" "g.137525636T>G" "N.D." "" "" "" "" "Unknown" "" "rs911137606" "0" "" "" "g.137204499T>G" "" "VUS" ""
"0000591698" "0" "53" "6" "137525635" "137525635" "subst" "6.50364E-5" "00000" "IFNGR1_000269" "g.137525635A>G" "0.000" "" "" "" "" "Unknown" "" "rs149216962" "0" "" "" "g.137204498A>G" "" "VUS" ""
"0000591699" "0" "53" "6" "137525634" "137525634" "subst" "8.12876E-6" "00000" "IFNGR1_000268" "g.137525634A>C" "0.000" "" "" "" "" "Unknown" "" "rs774913798" "0" "" "" "g.137204497A>C" "" "VUS" ""
"0000591700" "0" "57" "6" "137525630" "137525630" "subst" "8.1285E-6" "00000" "IFNGR1_000267" "g.137525630G>T" "0.000" "" "" "" "" "Unknown" "" "rs769242277" "0" "" "" "g.137204493G>T" "" "VUS" ""
"0000591701" "0" "53" "6" "137525622" "137525622" "subst" "4.06362E-6" "00000" "IFNGR1_000266" "g.137525622T>G" "0.000" "" "" "" "" "Unknown" "" "rs747634459" "0" "" "" "g.137204485T>G" "" "VUS" ""
"0000591702" "0" "53" "6" "137525619" "137525619" "subst" "4.06388E-6" "00000" "IFNGR1_000265" "g.137525619C>T" "0.0002" "" "" "" "" "Unknown" "" "rs564478099" "0" "" "" "g.137204482C>T" "" "VUS" ""
"0000591703" "0" "53" "6" "137525617" "137525617" "subst" "4.06349E-6" "00000" "IFNGR1_000264" "g.137525617T>C" "N.D." "" "" "" "" "Unknown" "" "rs760053836" "0" "" "" "g.137204480T>C" "" "VUS" ""
"0000591704" "0" "53" "6" "137525613" "137525613" "subst" "1.21905E-5" "00000" "IFNGR1_000263" "g.137525613G>A" "0.000" "" "" "" "" "Unknown" "" "rs368408089" "0" "" "" "g.137204476G>A" "" "VUS" ""
"0000591705" "0" "53" "6" "137525604" "137525604" "subst" "8.12638E-6" "00000" "IFNGR1_000262" "g.137525604C>G" "0.000" "" "" "" "" "Unknown" "" "rs746829359" "0" "" "" "g.137204467C>G" "" "VUS" ""
"0000591706" "0" "53" "6" "137525603" "137525603" "subst" "4.06293E-6" "00000" "IFNGR1_000261" "g.137525603C>T" "0.000" "" "" "" "" "Unknown" "" "rs779873472" "0" "" "" "g.137204466C>T" "" "VUS" ""
"0000591707" "0" "57" "6" "137525606" "137525608" "del" "0" "00000" "IFNGR1_000260" "g.137525606_137525608del" "0.000" "" "" "" "" "Unknown" "" "rs760261455" "0" "" "" "g.137204469_137204471del" "" "VUS" ""
"0000591708" "0" "53" "6" "137525591" "137525591" "subst" "0" "00000" "IFNGR1_000259" "g.137525591T>A" "N.D." "" "" "" "" "Unknown" "" "rs955059528" "0" "" "" "g.137204454T>A" "" "VUS" ""
"0000591709" "0" "53" "6" "137525587" "137525587" "subst" "2.03115E-5" "00000" "IFNGR1_000258" "g.137525587A>G" "0.000" "" "" "" "" "Unknown" "" "rs758158662" "0" "" "" "g.137204450A>G" "" "VUS" ""
"0000591710" "0" "53" "6" "137525586" "137525586" "subst" "8.12486E-6" "00000" "IFNGR1_000257" "g.137525586A>C" "0.000" "" "" "" "" "Unknown" "" "rs750396277" "0" "" "" "g.137204449A>C" "" "VUS" ""
"0000591711" "0" "57" "6" "137525573" "137525573" "subst" "4.0624E-6" "00000" "IFNGR1_000256" "g.137525573G>A" "0.000" "" "" "" "" "Unknown" "" "rs765210093" "0" "" "" "g.137204436G>A" "" "VUS" ""
"0000591712" "0" "57" "6" "137525572" "137525572" "subst" "0.000101557" "00000" "IFNGR1_000255" "g.137525572G>C" "0.0002" "" "" "" "" "Unknown" "" "rs201526779" "0" "" "" "g.137204435G>C" "" "VUS" ""
"0000591713" "0" "53" "6" "137525571" "137525571" "subst" "0" "00000" "IFNGR1_000254" "g.137525571A>C" "N.D." "" "" "" "" "Unknown" "" "rs762001072" "0" "" "" "g.137204434A>C" "" "VUS" ""
"0000591714" "11" "11" "6" "137525569" "137525569" "subst" "0" "00000" "IFNGR1_000044" "g.137525569G>A" "" "{PMID:van de Wetering 2010:20015550}" "" "" "This variant is probably not the cause of disease. Functional analysis: {PMID20015550:van de Wetering 2010}" "Germline" "" "" "0" "" "" "g.137204432G>A" "" "benign" ""
"0000591715" "0" "53" "6" "137525568" "137525568" "subst" "8.12486E-6" "00000" "IFNGR1_000253" "g.137525568T>C" "0.000" "" "" "" "" "Unknown" "" "rs753891318" "0" "" "" "g.137204431T>C" "" "VUS" ""
"0000591716" "3" "99" "6" "137525566" "137525566" "del" "0" "00000" "IFNGR1_000037" "g.137525566del" "" "{PMID:Tsolia 2006:16602008}" "" "453delT" "" "Germline" "" "" "0" "" "" "g.137204429del" "" "pathogenic (recessive)" ""
"0000591717" "0" "53" "6" "137525558" "137525558" "subst" "8.12453E-6" "00000" "IFNGR1_000252" "g.137525558T>C" "0.000" "" "" "" "" "Unknown" "" "rs764446241" "0" "" "" "g.137204421T>C" "" "VUS" ""
"0000591718" "0" "53" "6" "137525550" "137525550" "subst" "5.28099E-5" "00000" "IFNGR1_000251" "g.137525550G>A" "0.000" "" "" "" "" "Unknown" "" "rs145351427" "0" "" "" "g.137204413G>A" "" "VUS" ""
"0000591719" "0" "53" "6" "137525549" "137525549" "subst" "3.65613E-5" "00000" "IFNGR1_000250" "g.137525549C>T" "0.0004" "" "" "" "" "Unknown" "" "rs150445578" "0" "" "" "g.137204412C>T" "" "VUS" ""
"0000591720" "0" "53" "6" "137525544" "137525544" "subst" "8.12447E-6" "00000" "IFNGR1_000249" "g.137525544C>A" "0.000" "" "" "" "" "Unknown" "" "rs768057694" "0" "" "" "g.137204407C>A" "" "VUS" ""
"0000591721" "0" "53" "6" "137525543" "137525543" "subst" "0" "00000" "IFNGR1_000248" "g.137525543C>T" "N.D." "" "" "" "" "Unknown" "" "rs1012666787" "0" "" "" "g.137204406C>T" "" "VUS" ""
"0000591722" "0" "53" "6" "137525538" "137525538" "subst" "1.2188E-5" "00000" "IFNGR1_000247" "g.137525538G>A" "0.0002" "" "" "" "" "Unknown" "" "rs80062019" "0" "" "" "g.137204401G>A" "" "VUS" ""
"0000591723" "0" "53" "6" "137525537" "137525537" "subst" "8.12526E-6" "00000" "IFNGR1_000246" "g.137525537C>T" "0.000" "" "" "" "" "Unknown" "" "rs774732146" "0" "" "" "g.137204400C>T" "" "VUS" ""
"0000591724" "0" "53" "6" "137525534" "137525534" "subst" "4.0624E-6" "00000" "IFNGR1_000245" "g.137525534A>G" "0.000" "" "" "" "" "Unknown" "" "rs771401076" "0" "" "" "g.137204397A>G" "" "VUS" ""
"0000591725" "0" "53" "6" "137525526" "137525526" "subst" "0.0064476" "00000" "IFNGR1_000244" "g.137525526G>A" "0.0032" "" "" "" "" "Unknown" "" "rs41288981" "0" "" "" "g.137204389G>A" "" "VUS" ""
"0000591726" "0" "53" "6" "137525525" "137525525" "subst" "3.25018E-5" "00000" "IFNGR1_000243" "g.137525525C>T" "0.0002" "" "" "" "" "Unknown" "" "rs146687518" "0" "" "" "g.137204388C>T" "" "VUS" ""
"0000591727" "0" "53" "6" "137525498" "137525498" "subst" "8.12651E-6" "00000" "IFNGR1_000242" "g.137525498T>C" "0.000" "" "" "" "" "Unknown" "" "rs768132601" "0" "" "" "g.137204361T>C" "" "VUS" ""
"0000591728" "0" "53" "6" "137525497" "137525497" "subst" "2.84423E-5" "00000" "IFNGR1_000241" "g.137525497T>C" "0.000" "" "" "" "" "Unknown" "" "rs746704913" "0" "" "" "g.137204360T>C" "" "VUS" ""
"0000591729" "0" "57" "6" "137525495" "137525495" "subst" "4.06342E-6" "00000" "IFNGR1_000240" "g.137525495C>T" "0.000" "" "" "" "" "Unknown" "" "rs779677441" "0" "" "" "g.137204358C>T" "" "VUS" ""
"0000591730" "0" "53" "6" "137525493" "137525493" "subst" "0.00124747" "00000" "IFNGR1_000239" "g.137525493C>T" "0.0016" "" "" "" "" "Unknown" "" "rs557217199" "0" "" "" "g.137204356C>T" "" "VUS" ""
"0000591731" "3" "99" "6" "137525492" "137525492" "del" "1.21907E-5" "00000" "IFNGR1_000022" "g.137525492del" "" "{PMID:Koscielniak 2003:12712974}" "" "" "" "Germline" "" "" "0" "" "" "g.137204355del" "" "pathogenic (recessive)" ""
"0000591732" "3" "99" "6" "137525492" "137525492" "del" "1.21907E-5" "00000" "IFNGR1_000022" "g.137525492del" "" "{PMID:Dorman 2004:15589309}" "" "" "" "Unknown" "" "" "0" "" "" "g.137204355del" "" "pathogenic" ""
"0000591733" "3" "99" "6" "137525492" "137525492" "del" "1.21907E-5" "00000" "IFNGR1_000022" "g.137525492del" "" "{PMID:Marazzi 2009:19880337}" "" "" "" "Germline" "" "" "0" "" "" "g.137204355del" "" "pathogenic" ""
"0000591734" "3" "99" "6" "137525492" "137525492" "del" "1.21907E-5" "00000" "IFNGR1_000022" "g.137525492del" "" "{PMID:Taramasso 2014:25216720}" "" "523delT" "" "Germline" "" "" "0" "" "" "g.137204355del" "" "pathogenic (recessive)" ""
"0000591735" "21" "77" "6" "137525492" "137525492" "del" "1.21907E-5" "00000" "IFNGR1_000022" "g.137525492del" "" "{PMID:Olbrich 2015:26173802}" "" "523delT" "" "Germline" "" "" "0" "" "" "g.137204355del" "" "likely pathogenic (recessive)" ""
"0000591736" "0" "53" "6" "137525490" "137525490" "subst" "4.06349E-6" "00000" "IFNGR1_000238" "g.137525490A>G" "N.D." "" "" "" "" "Unknown" "" "rs749380011" "0" "" "" "g.137204353A>G" "" "VUS" ""
"0000591737" "0" "53" "6" "137525478" "137525478" "subst" "2.43855E-5" "00000" "IFNGR1_000237" "g.137525478G>A" "0.000" "" "" "" "" "Unknown" "" "rs376811918" "0" "" "" "g.137204341G>A" "" "VUS" ""
"0000591738" "0" "15" "6" "137525477" "137525477" "subst" "0.00102827" "00000" "IFNGR1_000046" "g.137525477C>T" "" "{PMID:Manry 2011:21448974}" "" "" "" "Unknown" "" "rs137853274" "0" "" "" "g.137204340C>T" "" "benign" ""
"0000591739" "0" "53" "6" "137525470" "137525470" "subst" "4.06451E-6" "00000" "IFNGR1_000235" "g.137525470T>C" "0.000" "" "" "" "" "Unknown" "" "rs757182417" "0" "" "" "g.137204333T>C" "" "VUS" ""
"0000591740" "0" "33" "6" "137524822" "137524822" "subst" "2.85614E-5" "00000" "IFNGR1_000057" "g.137524822T>C" "" "" "" "" "This variation was reported by {PMID27356097:Binczak-Kuleta 2016} to be a mutation, without any functional analyses or clinical indication. SIFT and Polyphen predictions indicate it is benign substitution. The variation is most likely a polymorphism" "Unknown" "" "rs752756474" "0" "" "" "g.137203685T>C" "" "likely benign" ""
"0000591741" "0" "53" "6" "137524822" "137524822" "subst" "2.85614E-5" "00000" "IFNGR1_000234" "g.137524822T>C" "0.000" "" "" "" "" "Unknown" "" "rs752756474" "0" "" "" "g.137203685T>C" "" "VUS" ""
"0000591742" "0" "53" "6" "137524821" "137524821" "subst" "4.07551E-6" "00000" "IFNGR1_000233" "g.137524821A>T" "0.000" "" "" "" "" "Unknown" "" "rs781589293" "0" "" "" "g.137203684A>T" "" "VUS" ""
"0000591743" "0" "53" "6" "137524820" "137524820" "subst" "1.63171E-5" "00000" "IFNGR1_000232" "g.137524820G>C" "0.000" "" "" "" "" "Unknown" "" "rs377718783" "0" "" "" "g.137203683G>C" "" "VUS" ""
"0000591744" "0" "53" "6" "137524810" "137524810" "subst" "8.13286E-6" "00000" "IFNGR1_000231" "g.137524810T>G" "0.000" "" "" "" "" "Unknown" "" "rs751701750" "0" "" "" "g.137203673T>G" "" "VUS" ""
"0000591745" "21" "99" "6" "137524805" "137524808" "del" "0" "00000" "IFNGR1_000012" "g.137524805_137524808del" "" "{PMID:Roesler 1999:10480427}" "" "561_564delACTC" "" "Germline" "" "" "0" "" "" "g.137203668_137203671del" "" "pathogenic (recessive)" ""
"0000591746" "3" "99" "6" "137524805" "137524808" "del" "0" "00000" "IFNGR1_000012" "g.137524805_137524808del" "" "{PMID:Dorman 2000:10959079}" "" "561del4" "" "Germline" "" "" "0" "" "" "g.137203668_137203671del" "" "pathogenic (recessive)" ""
"0000591747" "3" "99" "6" "137524805" "137524808" "del" "0" "00000" "IFNGR1_000012" "g.137524805_137524808del" "" "{PMID:Rosenzweig 2002:11781064}" "" "561del4" "" "Germline" "" "" "0" "" "" "g.137203668_137203671del" "" "pathogenic (recessive)" ""
"0000591748" "11" "99" "6" "137524805" "137524808" "del" "0" "00000" "IFNGR1_000012" "g.137524805_137524808del" "" "E. van de Vosse -unpublished data" "" "" "" "Germline" "" "" "0" "" "" "g.137203668_137203671del" "" "pathogenic (recessive)" ""
"0000591749" "0" "53" "6" "137524803" "137524803" "subst" "0.000146362" "00000" "IFNGR1_000230" "g.137524803G>T" "0.000" "" "" "" "" "Unknown" "" "rs55881171" "0" "" "" "g.137203666G>T" "" "VUS" ""
"0000591750" "0" "53" "6" "137524802" "137524802" "subst" "2.03272E-5" "00000" "IFNGR1_000229" "g.137524802C>T" "0.000" "" "" "" "" "Unknown" "" "rs370030428" "0" "" "" "g.137203665C>T" "" "VUS" ""
"0000591751" "0" "33" "6" "137524800" "137524800" "subst" "0" "00000" "IFNGR1_000058" "g.137524800T>C" "" "{PMID:Kong 2013:23472171}" "" "DNA change not specified, Q190R" "" "Unknown" "" "" "0" "" "" "g.137203663T>C" "" "likely benign" ""
"0000591752" "0" "57" "6" "137524785" "137524785" "subst" "4.06382E-6" "00000" "IFNGR1_000228" "g.137524785C>A" "0.000" "" "" "" "" "Unknown" "" "rs765663686" "0" "" "" "g.137203648C>A" "" "VUS" ""
"0000591753" "0" "53" "6" "137524783" "137524783" "subst" "4.06435E-6" "00000" "IFNGR1_000227" "g.137524783C>T" "0.000" "" "" "" "" "Unknown" "" "rs760189575" "0" "" "" "g.137203646C>T" "" "VUS" ""
"0000591754" "0" "53" "6" "137524781" "137524781" "subst" "9.34921E-5" "00000" "IFNGR1_000226" "g.137524781G>A" "0.000" "" "" "" "" "Unknown" "" "rs146420583" "0" "" "" "g.137203644G>A" "" "VUS" ""
"0000591755" "0" "53" "6" "137524780" "137524780" "subst" "0.000239773" "00000" "IFNGR1_000225" "g.137524780C>T" "0.001" "" "" "" "" "Unknown" "" "rs55666220" "0" "" "" "g.137203643C>T" "" "VUS" ""
"0000591756" "0" "53" "6" "137524774" "137524774" "subst" "1.62553E-5" "00000" "IFNGR1_000224" "g.137524774G>C" "0.000" "" "" "" "" "Unknown" "" "rs759268950" "0" "" "" "g.137203637G>C" "" "VUS" ""
"0000591757" "0" "53" "6" "137524773" "137524773" "subst" "0" "00000" "IFNGR1_000223" "g.137524773T>C" "N.D." "" "" "" "" "Unknown" "" "rs886061128" "0" "" "" "g.137203636T>C" "" "VUS" ""
"0000591758" "0" "53" "6" "137524770" "137524770" "subst" "4.06392E-6" "00000" "IFNGR1_000222" "g.137524770C>T" "0.000" "" "" "" "" "Unknown" "" "rs773866544" "0" "" "" "g.137203633C>T" "" "VUS" ""
"0000591759" "0" "53" "6" "137524766" "137524766" "subst" "4.06369E-6" "00000" "IFNGR1_000221" "g.137524766C>T" "0.000" "" "" "" "" "Unknown" "" "rs770830551" "0" "" "" "g.137203629C>T" "" "VUS" ""
"0000591760" "0" "53" "6" "137524760" "137524760" "subst" "0.000402256" "00000" "IFNGR1_000220" "g.137524760C>T" "0.0002" "" "" "" "" "Unknown" "" "rs201471898" "0" "" "" "g.137203623C>T" "" "VUS" ""
"0000591761" "0" "53" "6" "137524756" "137524756" "subst" "4.06296E-6" "00000" "IFNGR1_000219" "g.137524756G>A" "0.0002" "" "" "" "" "Unknown" "" "rs573582641" "0" "" "" "g.137203619G>A" "" "VUS" ""
"0000591762" "0" "53" "6" "137524754" "137524754" "subst" "0" "00000" "IFNGR1_000218" "g.137524754T>G" "0.000" "" "" "" "" "Unknown" "" "rs142741472" "0" "" "" "g.137203617T>G" "" "VUS" ""
"0000591763" "0" "53" "6" "137524750" "137524750" "subst" "4.06279E-6" "00000" "IFNGR1_000217" "g.137524750A>T" "0.000" "" "" "" "" "Unknown" "" "rs769808063" "0" "" "" "g.137203613A>T" "" "VUS" ""
"0000591764" "0" "53" "6" "137524744" "137524744" "subst" "8.12625E-6" "00000" "IFNGR1_000216" "g.137524744G>T" "0.000" "" "" "" "" "Unknown" "" "rs748271520" "0" "" "" "g.137203607G>T" "" "VUS" ""
"0000591765" "0" "53" "6" "137524742" "137524742" "subst" "0" "00000" "IFNGR1_000215" "g.137524742C>T" "N.D." "" "" "" "" "Unknown" "" "rs55637028" "0" "" "" "g.137203605C>T" "" "VUS" ""
"0000591766" "0" "53" "6" "137524737" "137524737" "subst" "0" "00000" "IFNGR1_000214" "g.137524737G>A" "N.D." "" "" "" "" "Unknown" "" "rs56057786" "0" "" "" "g.137203600G>A" "" "VUS" ""
"0000591767" "0" "57" "6" "137524729" "137524729" "subst" "0" "00000" "IFNGR1_000213" "g.137524729A>T" "N.D." "" "" "" "" "Unknown" "" "rs753354136" "0" "" "" "g.137203592A>T" "" "VUS" ""
"0000591768" "0" "53" "6" "137524716" "137524716" "subst" "4.0622E-6" "00000" "IFNGR1_000212" "g.137524716T>G" "N.D." "" "" "" "" "Unknown" "" "rs889654179" "0" "" "" "g.137203579T>G" "" "VUS" ""
"0000591769" "2" "99" "6" "137524716" "137524718" "del" "0" "00000" "IFNGR1_000016" "g.137524716_137524718del" "" "{PMID:Jouanguy 2000:10811850}" "" "652del3" "" "Germline" "" "" "0" "" "" "g.137203579_137203581del" "" "pathogenic (recessive)" ""
"0000591770" "11" "77" "6" "137524716" "137524718" "del" "0" "00000" "IFNGR1_000016" "g.137524716_137524718del" "" "{PMID:Olbrich 2015:26173802}" "" "652del3" "" "Germline" "" "" "0" "" "" "g.137203579_137203581del" "" "likely pathogenic (recessive)" ""
"0000591771" "3" "77" "6" "137524714" "137524714" "subst" "8.12427E-6" "00000" "IFNGR1_000036" "g.137524714C>T" "" "{PMID:Tesi 2015:25592983}" "" "" "" "Germline" "" "" "0" "" "" "g.137203577C>T" "" "likely pathogenic (recessive)" ""
"0000591772" "0" "53" "6" "137524708" "137524708" "subst" "0" "00000" "IFNGR1_000211" "g.137524708A>G" "N.D." "" "" "" "" "Unknown" "" "rs763788700" "0" "" "" "g.137203571A>G" "" "VUS" ""
"0000591773" "0" "53" "6" "137524706" "137524706" "subst" "4.06227E-6" "00000" "IFNGR1_000210" "g.137524706T>A" "0.000" "" "" "" "" "Unknown" "" "rs781373355" "0" "" "" "g.137203569T>A" "" "VUS" ""
"0000591774" "0" "53" "6" "137524705" "137524705" "subst" "5.68713E-5" "00000" "IFNGR1_000209" "g.137524705G>A" "0.000" "" "" "" "" "Unknown" "" "rs148469894" "0" "" "" "g.137203568G>A" "" "VUS" ""
"0000591775" "0" "53" "6" "137524704" "137524704" "subst" "0.000113736" "00000" "IFNGR1_000208" "g.137524704T>C" "0.000" "" "" "" "" "Unknown" "" "rs768805562" "0" "" "" "g.137203567T>C" "" "VUS" ""
"0000591776" "0" "53" "6" "137524703" "137524703" "subst" "0" "00000" "IFNGR1_000207" "g.137524703A>C" "0.000" "" "" "" "" "Unknown" "" "rs369013118" "0" "" "" "g.137203566A>C" "" "VUS" ""
"0000591777" "0" "53" "6" "137524702" "137524702" "subst" "4.06194E-6" "00000" "IFNGR1_000206" "g.137524702C>G" "0.000" "" "" "" "" "Unknown" "" "rs758765056" "0" "" "" "g.137203565C>G" "" "VUS" ""
"0000591778" "3" "77" "6" "137524697" "137524697" "subst" "4.06187E-6" "00000" "IFNGR1_000054" "g.137524697C>T" "" "{PMID:Gutierrez 2016:27868075}" "" "" "" "Unknown" "" "" "0" "" "" "g.137203560C>T" "" "likely pathogenic" ""
"0000591779" "0" "53" "6" "137524696" "137524696" "subst" "1.21855E-5" "00000" "IFNGR1_000205" "g.137524696C>T" "0.000" "" "" "" "" "Unknown" "" "rs750726870" "0" "" "" "g.137203559C>T" "" "VUS" ""
"0000591780" "0" "53" "6" "137524695" "137524695" "subst" "4.0618E-6" "00000" "IFNGR1_000204" "g.137524695C>A" "0.000" "" "" "" "" "Unknown" "" "rs374675376" "0" "" "" "g.137203558C>A" "" "VUS" ""
"0000591781" "0" "53" "6" "137524693" "137524693" "subst" "0" "00000" "IFNGR1_000203" "g.137524693C>A" "N.D." "" "" "" "" "Unknown" "" "rs1029475116" "0" "" "" "g.137203556C>A" "" "VUS" ""
"0000591782" "0" "57" "6" "137524690" "137524690" "dup" "0" "00000" "IFNGR1_000202" "g.137524690dup" "0.000" "" "" "" "" "Unknown" "" "rs778036909" "0" "" "" "g.137203553dup" "" "VUS" ""
"0000591783" "3" "99" "6" "137524686" "137524686" "del" "0" "00000" "IFNGR1_000032" "g.137524686del" "" "{PMID:Ward 2007:17120031}" "" "726delC" "" "Germline" "" "" "0" "" "" "g.137203549del" "" "pathogenic (recessive)" ""
"0000591784" "0" "53" "6" "137524684" "137524684" "subst" "4.06187E-6" "00000" "IFNGR1_000201" "g.137524684C>G" "0.000" "" "" "" "" "Unknown" "" "rs757718888" "0" "" "" "g.137203547C>G" "" "VUS" ""
"0000591785" "0" "53" "6" "137524675" "137524675" "subst" "5.28133E-5" "00000" "IFNGR1_000200" "g.137524675T>C" "0.000" "" "" "" "" "Unknown" "" "rs200848254" "0" "" "" "g.137203538T>C" "" "VUS" ""
"0000591786" "0" "53" "6" "137524671" "137524671" "subst" "4.0624E-6" "00000" "IFNGR1_000199" "g.137524671T>G" "0.000" "" "" "" "" "Unknown" "" "rs767099047" "0" "" "" "g.137203534T>G" "" "VUS" ""
"0000591787" "0" "53" "6" "137524667" "137524667" "subst" "4.06273E-6" "00000" "IFNGR1_000198" "g.137524667A>G" "0.000" "" "" "" "" "Unknown" "" "rs758968474" "0" "" "" "g.137203530A>G" "" "VUS" ""
"0000591788" "0" "57" "6" "137524668" "137524668" "del" "0" "00000" "IFNGR1_000197" "g.137524668del" "0.000" "" "" "" "" "Unknown" "" "rs772253758" "0" "" "" "g.137203531del" "" "VUS" ""
"0000591789" "0" "53" "6" "137524658" "137524658" "subst" "1.21892E-5" "00000" "IFNGR1_000196" "g.137524658G>A" "N.D." "" "" "" "" "Unknown" "" "rs886061127" "0" "" "" "g.137203521G>A" "" "VUS" ""
"0000591790" "0" "53" "6" "137524656" "137524656" "subst" "8.12539E-6" "00000" "IFNGR1_000195" "g.137524656A>G" "0.000" "" "" "" "" "Unknown" "" "rs371734711" "0" "" "" "g.137203519A>G" "" "VUS" ""
"0000591791" "0" "53" "6" "137524651" "137524651" "subst" "8.12651E-6" "00000" "IFNGR1_000194" "g.137524651T>C" "0.000" "" "" "" "" "Unknown" "" "rs752403103" "0" "" "" "g.137203514T>C" "" "VUS" ""
"0000591792" "0" "53" "6" "137524647" "137524647" "subst" "0" "00000" "IFNGR1_000193" "g.137524647C>T" "N.D." "" "" "" "" "Unknown" "" "rs371465030" "0" "" "" "g.137203510C>T" "" "VUS" ""
"0000591793" "0" "53" "6" "137524646" "137524646" "subst" "1.21915E-5" "00000" "IFNGR1_000192" "g.137524646G>A" "0.000" "" "" "" "" "Unknown" "" "rs762864949" "0" "" "" "g.137203509G>A" "" "VUS" ""
"0000591794" "0" "57" "6" "137524645" "137524645" "subst" "4.06369E-6" "00000" "IFNGR1_000191" "g.137524645T>C" "0.000" "" "" "" "" "Unknown" "" "rs773103247" "0" "" "" "g.137203508T>C" "" "VUS" ""
"0000591795" "0" "53" "6" "137524640" "137524640" "subst" "4.47038E-5" "00000" "IFNGR1_000190" "g.137524640T>C" "0.000" "" "" "" "" "Unknown" "" "rs376292228" "0" "" "" "g.137203503T>C" "" "VUS" ""
"0000591796" "0" "53" "6" "137524638" "137524638" "subst" "4.06425E-6" "00000" "IFNGR1_000189" "g.137524638T>C" "0.0002" "" "" "" "" "Unknown" "" "rs556642843" "0" "" "" "g.137203501T>C" "" "VUS" ""
"0000591797" "0" "53" "6" "137522140" "137522140" "subst" "4.06583E-6" "00000" "IFNGR1_000188" "g.137522140G>A" "0.000" "" "" "" "" "Unknown" "" "rs766163240" "0" "" "" "g.137201003G>A" "" "VUS" ""
"0000591798" "0" "53" "6" "137522139" "137522139" "subst" "8.13074E-6" "00000" "IFNGR1_000187" "g.137522139A>G" "0.000" "" "" "" "" "Unknown" "" "rs762735707" "0" "" "" "g.137201002A>G" "" "VUS" ""
"0000591799" "0" "53" "6" "137522128" "137522128" "subst" "8.13187E-6" "00000" "IFNGR1_000186" "g.137522128C>G" "0.000" "" "" "" "" "Unknown" "" "rs144555780" "0" "" "" "g.137200991C>G" "" "VUS" ""
"0000591800" "0" "53" "6" "137522108" "137522108" "subst" "0" "00000" "IFNGR1_000185" "g.137522108G>T" "N.D." "" "" "" "" "Unknown" "" "rs56145308" "0" "" "" "g.137200971G>T" "" "VUS" ""
"0000591801" "0" "53" "6" "137522105" "137522105" "subst" "4.0658E-6" "00000" "IFNGR1_000184" "g.137522105A>G" "0.000" "" "" "" "" "Unknown" "" "rs765182221" "0" "" "" "g.137200968A>G" "" "VUS" ""
"0000591802" "0" "99" "6" "137522102" "137522105" "del" "0" "00000" "IFNGR1_000030" "g.137522102_137522105del" "" "{PMID:Okada 2007:17513528}" "" "774del4 (TCTA)" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200965_137200968del" "" "pathogenic (dominant)" ""
"0000591803" "0" "57" "6" "137522104" "137522104" "subst" "6.09895E-5" "00000" "IFNGR1_000183" "g.137522104G>C" "0.0002" "" "" "" "" "Unknown" "" "rs149290101" "0" "" "" "g.137200967G>C" "" "VUS" ""
"0000591804" "0" "33" "6" "137522089" "137522089" "subst" "2.44113E-5" "00000" "IFNGR1_000056" "g.137522089C>T" "" "" "" "not specified" "polymorphism, functional analysis: {PMID26343451:Gao 2015}" "Unknown" "" "rs372412638" "0" "" "" "g.137200952C>T" "" "likely benign" ""
"0000591805" "0" "99" "6" "137522086" "137522086" "del" "0" "00000" "IFNGR1_000029" "g.137522086del" "" "{PMID:Storgaard 2006:16867158}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200949del" "" "pathogenic (dominant)" ""
"0000591806" "0" "53" "6" "137522083" "137522083" "subst" "4.06941E-6" "00000" "IFNGR1_000181" "g.137522083T>C" "N.D." "" "" "" "" "Unknown" "" "rs986932525" "0" "" "" "g.137200946T>C" "" "VUS" ""
"0000591807" "0" "99" "6" "137522078" "137522078" "del" "0" "00000" "IFNGR1_000035" "g.137522078del" "" "{PMID:Rose 2014:24220318}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200941del" "" "pathogenic (dominant)" ""
"0000591808" "0" "57" "6" "137522074" "137522074" "subst" "0" "00000" "IFNGR1_000180" "g.137522074A>T" "N.D." "" "" "" "" "Unknown" "" "rs967983230" "0" "" "" "g.137200937A>T" "" "VUS" ""
"0000591809" "0" "99" "6" "137522065" "137522068" "del" "0" "00000" "IFNGR1_000021" "g.137522065_137522068del" "" "" "" "811del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200928_137200931del" "" "pathogenic (dominant)" ""
"0000591810" "0" "99" "6" "137522065" "137522068" "del" "0" "00000" "IFNGR1_000021" "g.137522065_137522068del" "" "{PMID:Obinata 2012:23053508}" "" "811del4" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.137200928_137200931del" "" "pathogenic" ""
"0000591811" "0" "99" "6" "137522065" "137522065" "dup" "0" "00000" "IFNGR1_000017" "g.137522065dup" "" "{PMID:Dorman 2000:10959079}" "" "817insA" "normal 2nd chromosome; partial dominant negative mutation" "Germline" "" "" "0" "" "" "g.137200928dup" "" "pathogenic (dominant)" ""
"0000591812" "0" "99" "6" "137522061" "137522061" "del" "0" "00000" "IFNGR1_000010" "g.137522061del" "" "{PMID:Jouanguy 1999:10192386}" "" "818delT" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200924del" "" "pathogenic (dominant)" ""
"0000591813" "0" "99" "6" "137522061" "137522061" "del" "0" "00000" "IFNGR1_000010" "g.137522061del" "" "{PMID:Sharma 2015:26054576}" "" "818delT" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200924del" "" "pathogenic (dominant)" ""
"0000591814" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591815" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591816" "20" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591817" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591818" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591819" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591820" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591821" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591822" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591823" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591824" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591825" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Arend 2001:11583830}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591826" "11" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Arend 2001:11583830}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591827" "21" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Arend 2001:11583830}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591828" "21" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Edgar 2001:11598613}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591829" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Edgar 2001:11598613}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591830" "11" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Sasaki 2002:11865431}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591831" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591832" "21" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Waibel 2002:12269642}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591833" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Dorman 2004:15589309}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591834" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Dorman 2004:15589309}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591835" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Dorman 2004:15589309}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591836" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Dorman 2004:15589309}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591837" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Dorman 2004:15589309}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591838" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Dorman 2004:15589309}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591839" "1" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Han 2004:15472821}" "" "818delTTAA" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591840" "11" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Glosli 2008:18171304}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591841" "21" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Lee 2008:18972195}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591842" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Lee 2008:18972195}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591843" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Vinh 2009:19681704}" "" "818del4" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591844" "21" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Auld 2011:21464185}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591845" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Muszlak 2007:17223023}" "" "818del4" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591846" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Obinata 2012:23053508}" "" "818del4" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic" ""
"0000591847" "21" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591848" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Jouanguy 1999:10192386}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591849" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Antonietti 2015:26251056}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591850" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{DOI:Pac 2012:10.5114/ceji.2012.32667}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591851" "21" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Wang 2012:23036270}" "" "818del4" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591852" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "{PMID:Quispel 2014:24254535}" "" "" "" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591853" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "E. van de Vosse -unpublished data" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591854" "0" "99" "6" "137522060" "137522063" "del" "0" "00000" "IFNGR1_000009" "g.137522060_137522063del" "" "E. van de Vosse -unpublished data" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200923_137200926del" "" "pathogenic (dominant)" ""
"0000591855" "0" "57" "6" "137522056" "137522056" "subst" "0" "00000" "IFNGR1_000179" "g.137522056G>T" "0.000" "" "" "" "" "Unknown" "" "rs768418453" "0" "" "" "g.137200919G>T" "" "VUS" ""
"0000591856" "0" "53" "6" "137522053" "137522053" "subst" "4.11848E-6" "00000" "IFNGR1_000178" "g.137522053A>G" "0.000" "" "" "" "" "Unknown" "" "rs760829054" "0" "" "" "g.137200916A>G" "" "VUS" ""
"0000591857" "0" "57" "6" "137522048" "137522048" "subst" "4.14983E-6" "00000" "IFNGR1_000177" "g.137522048C>A" "0.000" "" "" "" "" "Unknown" "" "rs775390708" "0" "" "" "g.137200911C>A" "" "VUS" ""
"0000591858" "0" "99" "6" "137522047" "137522047" "subst" "0" "00000" "IFNGR1_000020" "g.137522047C>A" "" "{PMID:Villella 2001:1135768}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200910C>A" "" "pathogenic (dominant)" ""
"0000591859" "0" "99" "6" "137522047" "137522047" "subst" "0" "00000" "IFNGR1_000020" "g.137522047C>A" "" "{PMID:Hoshina 2011:21221749}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.137200910C>A" "" "pathogenic (dominant)" ""
"0000591860" "0" "57" "6" "137522038" "137522038" "subst" "0" "00000" "IFNGR1_000176" "g.137522038T>C" "N.D." "" "" "" "" "Unknown" "" "rs1020351398" "0" "" "" "g.137200901T>C" "" "VUS" ""
"0000591861" "0" "57" "6" "137522036" "137522036" "subst" "4.1827E-6" "00000" "IFNGR1_000175" "g.137522036T>C" "0.000" "" "" "" "" "Unknown" "" "rs772105330" "0" "" "" "g.137200899T>C" "" "VUS" ""
"0000591862" "0" "57" "6" "137522036" "137522038" "del" "0" "00000" "IFNGR1_000174" "g.137522036_137522038del" "0.000" "" "" "" "" "Unknown" "" "rs755373482" "0" "" "" "g.137200899_137200901del" "" "VUS" ""
"0000591863" "0" "57" "6" "137522022" "137522022" "subst" "4.27661E-6" "00000" "IFNGR1_000173" "g.137522022G>A" "0.000" "" "" "" "" "Unknown" "" "rs746134574" "0" "" "" "g.137200885G>A" "" "VUS" ""
"0000591864" "0" "35" "6" "137519774" "137519774" "subst" "2.89364E-5" "00000" "IFNGR1_000048" "g.137519774G>C" "" "{PMID:Manry 2011:21448974}" "" "" "" "Unknown" "" "rs121913184" "0" "" "" "g.137198637G>C" "" "likely benign" ""
"0000591865" "0" "53" "6" "137519774" "137519774" "subst" "2.89364E-5" "00000" "IFNGR1_000172" "g.137519774G>C" "0.000" "" "" "" "" "Unknown" "" "rs121913184" "0" "" "" "g.137198637G>C" "" "VUS" ""
"0000591866" "0" "57" "6" "137519772" "137519772" "subst" "0" "00000" "IFNGR1_000171" "g.137519772G>C" "0.000" "" "" "" "" "Unknown" "" "rs775472233" "0" "" "" "g.137198635G>C" "" "VUS" ""
"0000591867" "0" "53" "6" "137519741" "137519741" "subst" "4.07505E-6" "00000" "IFNGR1_000170" "g.137519741T>C" "0.000" "" "" "" "" "Unknown" "" "rs368246930" "0" "" "" "g.137198604T>C" "" "VUS" ""
"0000591868" "0" "53" "6" "137519727" "137519727" "subst" "4.06928E-6" "00000" "IFNGR1_000169" "g.137519727T>C" "0.000" "" "" "" "" "Unknown" "" "rs759549913" "0" "" "" "g.137198590T>C" "" "VUS" ""
"0000591869" "0" "53" "6" "137519718" "137519718" "subst" "4.06815E-6" "00000" "IFNGR1_000168" "g.137519718A>C" "0.000" "" "" "" "" "Unknown" "" "rs774573709" "0" "" "" "g.137198581A>C" "" "VUS" ""
"0000591870" "0" "57" "6" "137519712" "137519712" "subst" "0" "00000" "IFNGR1_000167" "g.137519712G>T" "0.0002" "" "" "" "" "Unknown" "" "rs560014238" "0" "" "" "g.137198575G>T" "" "VUS" ""
"0000591871" "0" "53" "6" "137519711" "137519711" "subst" "2.03414E-5" "00000" "IFNGR1_000166" "g.137519711C>T" "0.0004" "" "" "" "" "Unknown" "" "rs148579116" "0" "" "" "g.137198574C>T" "" "VUS" ""
"0000591872" "0" "57" "6" "137519706" "137519706" "subst" "0" "00000" "IFNGR1_000165" "g.137519706T>G" "0.000" "" "" "" "" "Unknown" "" "rs770174551" "0" "" "" "g.137198569T>G" "" "VUS" ""
"0000591873" "0" "53" "6" "137519705" "137519705" "subst" "1.62696E-5" "00000" "IFNGR1_000164" "g.137519705G>A" "0.000" "" "" "" "" "Unknown" "" "rs748661760" "0" "" "" "g.137198568G>A" "" "VUS" ""
"0000591874" "0" "57" "6" "137519700" "137519700" "subst" "4.06749E-6" "00000" "IFNGR1_000163" "g.137519700G>C" "0.000" "" "" "" "" "Unknown" "" "rs781763552" "0" "" "" "g.137198563G>C" "" "VUS" ""
"0000591875" "0" "57" "6" "137519688" "137519688" "subst" "4.06709E-6" "00000" "IFNGR1_000162" "g.137519688T>C" "0.000" "" "" "" "" "Unknown" "" "rs757987090" "0" "" "" "g.137198551T>C" "" "VUS" ""
"0000591876" "0" "53" "6" "137519685" "137519685" "subst" "4.06686E-6" "00000" "IFNGR1_000161" "g.137519685T>C" "0.000" "" "" "" "" "Unknown" "" "rs749894572" "0" "" "" "g.137198548T>C" "" "VUS" ""
"0000591877" "0" "53" "6" "137519681" "137519681" "subst" "4.06689E-6" "00000" "IFNGR1_000160" "g.137519681C>T" "0.000" "" "" "" "" "Unknown" "" "rs773201366" "0" "" "" "g.137198544C>T" "" "VUS" ""
"0000591878" "0" "53" "6" "137519678" "137519678" "subst" "0" "00000" "IFNGR1_000159" "g.137519678C>T" "N.D." "" "" "" "" "Unknown" "" "rs889151008" "0" "" "" "g.137198541C>T" "" "VUS" ""
"0000591879" "0" "53" "6" "137519677" "137519677" "subst" "1.62666E-5" "00000" "IFNGR1_000158" "g.137519677C>T" "0.000" "" "" "" "" "Unknown" "" "rs756817336" "0" "" "" "g.137198540C>T" "" "VUS" ""
"0000591880" "0" "53" "6" "137519664" "137519664" "subst" "1.21965E-5" "00000" "IFNGR1_000157" "g.137519664G>A" "0.000" "" "" "" "" "Unknown" "" "rs753495798" "0" "" "" "g.137198527G>A" "" "VUS" ""
"0000591881" "0" "53" "6" "137519663" "137519663" "subst" "4.06577E-6" "00000" "IFNGR1_000156" "g.137519663C>T" "0.000" "" "" "" "" "Unknown" "" "rs376124136" "0" "" "" "g.137198526C>T" "" "VUS" ""
"0000591882" "0" "57" "6" "137519659" "137519659" "subst" "2.84544E-5" "00000" "IFNGR1_000155" "g.137519659A>T" "0.000" "" "" "" "" "Unknown" "" "rs755921189" "0" "" "" "g.137198522A>T" "" "VUS" ""
"0000591883" "0" "53" "6" "137519654" "137519654" "subst" "8.12869E-6" "00000" "IFNGR1_000154" "g.137519654T>C" "0.000" "" "" "" "" "Unknown" "" "rs752694743" "0" "" "" "g.137198517T>C" "" "VUS" ""
"0000591884" "0" "57" "6" "137519650" "137519650" "subst" "6.09622E-5" "00000" "IFNGR1_000153" "g.137519650T>C" "0.0002" "" "" "" "" "Unknown" "" "rs372635142" "0" "" "" "g.137198513T>C" "" "VUS" ""
"0000591885" "0" "11" "6" "137519634" "137519634" "subst" "0.00105644" "00000" "IFNGR1_000042" "g.137519634T>G" "" "{PMID:Thye 2003:12516030}" "" "" "polymorphism, functional analysis: {PMID20015550:van de Wetering 2010}. Note: indicated as H318P in {PMID12516030:Thye 2003}" "Unknown" "" "rs17175350" "0" "" "" "g.137198497T>G" "" "benign" ""
"0000591886" "0" "57" "6" "137519631" "137519631" "subst" "1.62542E-5" "00000" "IFNGR1_000152" "g.137519631G>A" "0.000" "" "" "" "" "Unknown" "" "rs774376274" "0" "" "" "g.137198494G>A" "" "VUS" ""
"0000591887" "0" "53" "6" "137519630" "137519630" "subst" "0.000125973" "00000" "IFNGR1_000151" "g.137519630G>A" "0.0004" "" "" "" "" "Unknown" "" "rs147492437" "0" "" "" "g.137198493G>A" "" "VUS" ""
"0000591888" "0" "57" "6" "137519629" "137519629" "subst" "2.84451E-5" "00000" "IFNGR1_000150" "g.137519629C>T" "0.000" "" "" "" "" "Unknown" "" "rs776745485" "0" "" "" "g.137198492C>T" "" "VUS" ""
"0000591889" "0" "57" "6" "137519625" "137519625" "subst" "1.21893E-5" "00000" "IFNGR1_000149" "g.137519625T>C" "0.000" "" "" "" "" "Unknown" "" "rs770124902" "0" "" "" "g.137198488T>C" "" "VUS" ""
"0000591890" "0" "53" "6" "137519622" "137519622" "subst" "8.12592E-6" "00000" "IFNGR1_000148" "g.137519622T>C" "0.000" "" "" "" "" "Unknown" "" "rs748478456" "0" "" "" "g.137198485T>C" "" "VUS" ""
"0000591891" "0" "35" "6" "137519611" "137519611" "subst" "6.09404E-5" "00000" "IFNGR1_000049" "g.137519611C>T" "" "{PMID:Manry 2011:21448974}" "" "" "" "Unknown" "" "rs121913185" "0" "" "" "g.137198474C>T" "" "likely benign" ""
"0000591892" "0" "53" "6" "137519611" "137519611" "subst" "6.09404E-5" "00000" "IFNGR1_000147" "g.137519611C>T" "0.0002" "" "" "" "" "Unknown" "" "rs121913185" "0" "" "" "g.137198474C>T" "" "VUS" ""
"0000591893" "0" "75" "6" "137519604" "137519604" "subst" "2.0313E-5" "00000" "IFNGR1_000050" "g.137519604T>C" "" "{PMID:Manry 2011:21448974}" "" "" "" "Unknown" "" "rs121913186" "0" "" "" "g.137198467T>C" "" "likely pathogenic" ""
"0000591894" "0" "53" "6" "137519604" "137519604" "subst" "2.0313E-5" "00000" "IFNGR1_000146" "g.137519604T>C" "0.000" "" "" "" "" "Unknown" "" "rs121913186" "0" "" "" "g.137198467T>C" "" "VUS" ""
"0000591895" "0" "53" "6" "137519601" "137519601" "subst" "0" "00000" "IFNGR1_000145" "g.137519601G>A" "N.D." "" "" "" "" "Unknown" "" "rs551075425" "0" "" "" "g.137198464G>A" "" "VUS" ""
"0000591896" "0" "53" "6" "137519600" "137519600" "subst" "2.03123E-5" "00000" "IFNGR1_000144" "g.137519600T>C" "0.000" "" "" "" "" "Unknown" "" "rs745401411" "0" "" "" "g.137198463T>C" "" "VUS" ""
"0000591897" "0" "57" "6" "137519595" "137519595" "subst" "8.12493E-6" "00000" "IFNGR1_000143" "g.137519595T>G" "0.000" "" "" "" "" "Unknown" "" "rs139083589" "0" "" "" "g.137198458T>G" "" "VUS" ""
"0000591898" "0" "53" "6" "137519591" "137519591" "subst" "0" "00000" "IFNGR1_000142" "g.137519591A>C" "N.D." "" "" "" "" "Unknown" "" "rs910951561" "0" "" "" "g.137198454A>C" "" "VUS" ""
"0000591899" "0" "57" "6" "137519590" "137519590" "subst" "1.6251E-5" "00000" "IFNGR1_000141" "g.137519590A>G" "0.000" "" "" "" "" "Unknown" "" "rs756766995" "0" "" "" "g.137198453A>G" "" "VUS" ""
"0000591900" "0" "57" "6" "137519589" "137519589" "subst" "4.06256E-6" "00000" "IFNGR1_000140" "g.137519589G>A" "0.000" "" "" "" "" "Unknown" "" "rs748947618" "0" "" "" "g.137198452G>A" "" "VUS" ""
"0000591901" "0" "53" "6" "137519588" "137519588" "subst" "0.131564" "00000" "IFNGR1_000139" "g.137519588A>C" "0.0940" "" "" "" "" "Unknown" "" "rs11914" "0" "" "" "g.137198451A>C" "" "VUS" ""
"0000591902" "0" "53" "6" "137519587" "137519587" "subst" "0" "00000" "IFNGR1_000138" "g.137519587T>G" "0.000" "" "" "" "" "Unknown" "" "rs752445290" "0" "" "" "g.137198450T>G" "" "VUS" ""
"0000591903" "0" "53" "6" "137519584" "137519584" "subst" "0" "00000" "IFNGR1_000137" "g.137519584T>C" "0.000" "" "" "" "" "Unknown" "" "rs767476170" "0" "" "" "g.137198447T>C" "" "VUS" ""
"0000591904" "0" "11" "6" "137519582" "137519582" "subst" "4.87472E-5" "00000" "IFNGR1_000045" "g.137519582T>C" "" "" "" "" "This variant probably does not cause the disease in this patient. Functional analysis: {PMID20015550:van de Wetering 2010}" "Unknown" "" "rs199641966" "0" "" "" "g.137198445T>C" "" "benign" ""
"0000591905" "0" "53" "6" "137519569" "137519569" "subst" "4.06293E-6" "00000" "IFNGR1_000135" "g.137519569T>C" "0.000" "" "" "" "" "Unknown" "" "rs751477727" "0" "" "" "g.137198432T>C" "" "VUS" ""
"0000591906" "0" "53" "6" "137519557" "137519557" "subst" "4.06293E-6" "00000" "IFNGR1_000134" "g.137519557T>A" "0.000" "" "" "" "" "Unknown" "" "rs766429431" "0" "" "" "g.137198420T>A" "" "VUS" ""
"0000591907" "0" "53" "6" "137519546" "137519546" "subst" "0.000130042" "00000" "IFNGR1_000133" "g.137519546G>A" "0.000" "" "" "" "" "Unknown" "" "rs763084442" "0" "" "" "g.137198409G>A" "" "VUS" ""
"0000591908" "0" "53" "6" "137519545" "137519545" "subst" "5.28236E-5" "00000" "IFNGR1_000132" "g.137519545C>T" "0.000" "" "" "" "" "Unknown" "" "rs56403507" "0" "" "" "g.137198408C>T" "" "VUS" ""
"0000591909" "0" "53" "6" "137519538" "137519538" "subst" "8.12691E-6" "00000" "IFNGR1_000131" "g.137519538G>A" "0.000" "" "" "" "" "Unknown" "" "rs148158267" "0" "" "" "g.137198401G>A" "" "VUS" ""
"0000591910" "0" "53" "6" "137519537" "137519537" "subst" "0.000227546" "00000" "IFNGR1_000130" "g.137519537C>T" "0.0016" "" "" "" "" "Unknown" "" "rs149761943" "0" "" "" "g.137198400C>T" "" "VUS" ""
"0000591911" "0" "53" "6" "137519522" "137519522" "subst" "4.06349E-6" "00000" "IFNGR1_000129" "g.137519522A>G" "0.000" "" "" "" "" "Unknown" "" "rs769109720" "0" "" "" "g.137198385A>G" "" "VUS" ""
"0000591912" "0" "53" "6" "137519518" "137519518" "subst" "1.21914E-5" "00000" "IFNGR1_000128" "g.137519518T>C" "N.D." "" "" "" "" "Unknown" "" "rs963564493" "0" "" "" "g.137198381T>C" "" "VUS" ""
"0000591913" "0" "57" "6" "137519515" "137519516" "del" "0" "00000" "IFNGR1_000127" "g.137519515_137519516del" "0.000" "" "" "" "" "Unknown" "" "rs780346130" "0" "" "" "g.137198378_137198379del" "" "VUS" ""
"0000591914" "0" "53" "6" "137519497" "137519497" "subst" "2.03224E-5" "00000" "IFNGR1_000126" "g.137519497G>T" "0.000" "" "" "" "" "Unknown" "" "rs747564587" "0" "" "" "g.137198360G>T" "" "VUS" ""
"0000591915" "0" "53" "6" "137519483" "137519483" "subst" "9.34914E-5" "00000" "IFNGR1_000125" "g.137519483G>A" "0.0002" "" "" "" "" "Unknown" "" "rs148989052" "0" "" "" "g.137198346G>A" "" "VUS" ""
"0000591916" "0" "57" "6" "137519482" "137519482" "subst" "4.06491E-6" "00000" "IFNGR1_000124" "g.137519482G>A" "0.000" "" "" "" "" "Unknown" "" "rs770411050" "0" "" "" "g.137198345G>A" "" "VUS" ""
"0000591917" "0" "57" "6" "137519479" "137519479" "subst" "0" "00000" "IFNGR1_000123" "g.137519479A>G" "N.D." "" "" "" "" "Unknown" "" "rs56030899" "0" "" "" "g.137198342A>G" "" "VUS" ""
"0000591918" "0" "53" "6" "137519469" "137519469" "subst" "4.0654E-6" "00000" "IFNGR1_000122" "g.137519469C>T" "0.000" "" "" "" "" "Unknown" "" "rs748762532" "0" "" "" "g.137198332C>T" "" "VUS" ""
"0000591919" "0" "53" "6" "137519462" "137519462" "subst" "8.13312E-6" "00000" "IFNGR1_000121" "g.137519462G>A" "N.D." "" "" "" "" "Unknown" "" "rs774998020" "0" "" "" "g.137198325G>A" "" "VUS" ""
"0000591920" "0" "53" "6" "137519461" "137519461" "subst" "0" "00000" "IFNGR1_000120" "g.137519461C>T" "0.000" "" "" "" "" "Unknown" "" "rs777316078" "0" "" "" "g.137198324C>T" "" "VUS" ""
"0000591921" "0" "57" "6" "137519451" "137519451" "subst" "1.22046E-5" "00000" "IFNGR1_000119" "g.137519451G>A" "0.000" "" "" "" "" "Unknown" "" "rs747769538" "0" "" "" "g.137198314G>A" "" "VUS" ""
"0000591922" "0" "53" "6" "137519450" "137519450" "subst" "2.84787E-5" "00000" "IFNGR1_000118" "g.137519450C>T" "0.000" "" "" "" "" "Unknown" "" "rs781016678" "0" "" "" "g.137198313C>T" "" "VUS" ""
"0000591923" "0" "33" "6" "137519448" "137519448" "subst" "2.03308E-5" "00000" "IFNGR1_000055" "g.137519448T>C" "" "" "" "not specified" "polymorphism, functional analysis by \r\n{PMID26343451:Gao 2015}" "Unknown" "" "rs374787981" "0" "" "" "g.137198311T>C" "" "likely benign" ""
"0000591924" "0" "53" "6" "137519444" "137519444" "subst" "5.69277E-5" "00000" "IFNGR1_000116" "g.137519444G>A" "0.000" "" "" "" "" "Unknown" "" "rs745531957" "0" "" "" "g.137198307G>A" "" "VUS" ""
"0000591925" "0" "57" "6" "137519422" "137519448" "del" "0" "00000" "IFNGR1_000108" "g.137519422_137519448del" "0.000" "" "" "" "" "Unknown" "" "rs767065111" "0" "" "" "g.137198285_137198311del" "" "VUS" ""
"0000591926" "0" "57" "6" "137519433" "137519433" "dup" "0" "00000" "IFNGR1_000114" "g.137519433dup" "0.000" "" "" "" "" "Unknown" "" "rs750048864" "0" "" "" "g.137198296dup" "" "VUS" ""
"0000591927" "0" "53" "6" "137519433" "137519433" "subst" "4.06716E-6" "00000" "IFNGR1_000115" "g.137519433C>T" "0.0002" "" "" "" "" "Unknown" "" "rs552927708" "0" "" "" "g.137198296C>T" "" "VUS" ""
"0000591928" "0" "53" "6" "137519424" "137519424" "subst" "8.13511E-6" "00000" "IFNGR1_000113" "g.137519424C>T" "0.000" "" "" "" "" "Unknown" "" "rs370580064" "0" "" "" "g.137198287C>T" "" "VUS" ""
"0000591929" "0" "53" "6" "137519421" "137519421" "subst" "0" "00000" "IFNGR1_000112" "g.137519421T>A" "N.D." "" "" "" "" "Unknown" "" "rs997931680" "0" "" "" "g.137198284T>A" "" "VUS" ""
"0000591930" "0" "53" "6" "137519418" "137519418" "subst" "2.84722E-5" "00000" "IFNGR1_000111" "g.137519418T>G" "0.000" "" "" "" "" "Unknown" "" "rs146842669" "0" "" "" "g.137198281T>G" "" "VUS" ""
"0000591931" "0" "53" "6" "137519417" "137519417" "subst" "4.06749E-6" "00000" "IFNGR1_000110" "g.137519417G>A" "0.000" "" "" "" "" "Unknown" "" "rs765407922" "0" "" "" "g.137198280G>A" "" "VUS" ""
"0000591932" "0" "53" "6" "137519410" "137519410" "subst" "0" "00000" "IFNGR1_000109" "g.137519410T>C" "N.D." "" "" "" "" "Unknown" "" "rs1006647846" "0" "" "" "g.137198273T>C" "" "VUS" ""
"0000591933" "0" "53" "6" "137519407" "137519407" "subst" "4.06716E-6" "00000" "IFNGR1_000107" "g.137519407C>T" "N.D." "" "" "" "" "Unknown" "" "rs750604380" "0" "" "" "g.137198270C>T" "" "VUS" ""
"0000591934" "0" "53" "6" "137519406" "137519406" "subst" "8.13273E-6" "00000" "IFNGR1_000106" "g.137519406C>T" "0.000" "" "" "" "" "Unknown" "" "rs762165619" "0" "" "" "g.137198269C>T" "" "VUS" ""
"0000591935" "0" "53" "6" "137519403" "137519403" "subst" "8.13921E-6" "00000" "IFNGR1_000105" "g.137519403A>G" "0.000" "" "" "" "" "Unknown" "" "rs377166336" "0" "" "" "g.137198266A>G" "" "VUS" ""
"0000591936" "0" "53" "6" "137519402" "137519402" "subst" "2.03331E-5" "00000" "IFNGR1_000104" "g.137519402A>G" "0.000" "" "" "" "" "Unknown" "" "rs144715018" "0" "" "" "g.137198265A>G" "" "VUS" ""
"0000591937" "0" "53" "6" "137519400" "137519400" "subst" "0" "00000" "IFNGR1_000103" "g.137519400T>A" "0.000" "" "" "" "" "Unknown" "" "rs761112956" "0" "" "" "g.137198263T>A" "" "VUS" ""
"0000591938" "0" "57" "6" "137519394" "137519394" "subst" "4.06613E-6" "00000" "IFNGR1_000102" "g.137519394T>G" "0.000" "" "" "" "" "Unknown" "" "rs775862895" "0" "" "" "g.137198257T>G" "" "VUS" ""
"0000591939" "0" "57" "6" "137519392" "137519392" "subst" "4.06818E-6" "00000" "IFNGR1_000101" "g.137519392A>C" "0.000" "" "" "" "" "Unknown" "" "rs772586071" "0" "" "" "g.137198255A>C" "" "VUS" ""
"0000591940" "0" "53" "6" "137519387" "137519387" "subst" "8.13187E-6" "00000" "IFNGR1_000100" "g.137519387G>C" "0.000" "" "" "" "" "Unknown" "" "rs762406244" "0" "" "" "g.137198250G>C" "" "VUS" ""
"0000591941" "0" "53" "6" "137519378" "137519378" "subst" "0" "00000" "IFNGR1_000099" "g.137519378T>C" "N.D." "" "" "" "" "Unknown" "" "rs903725564" "0" "" "" "g.137198241T>C" "" "VUS" ""
"0000591942" "0" "53" "6" "137519373" "137519373" "subst" "4.06587E-6" "00000" "IFNGR1_000098" "g.137519373T>C" "N.D." "" "" "" "" "Unknown" "" "rs1023656962" "0" "" "" "g.137198236T>C" "" "VUS" ""
"0000591943" "0" "35" "6" "137519370" "137519370" "subst" "0" "00000" "IFNGR1_000051" "g.137519370C>T" "" "{PMID:Manry 2011:21448974}" "" "" "" "Unknown" "" "rs121913188" "0" "" "" "g.137198233C>T" "" "likely benign" ""
"0000591944" "0" "53" "6" "137519370" "137519370" "subst" "0" "00000" "IFNGR1_000097" "g.137519370C>T" "N.D." "" "" "" "" "Unknown" "" "rs121913188" "0" "" "" "g.137198233C>T" "" "VUS" ""
"0000591945" "0" "53" "6" "137519369" "137519369" "subst" "4.06613E-6" "00000" "IFNGR1_000096" "g.137519369G>A" "0.000" "" "" "" "" "Unknown" "" "rs772821071" "0" "" "" "g.137198232G>A" "" "VUS" ""
"0000591946" "0" "53" "6" "137519366" "137519366" "subst" "3.25304E-5" "00000" "IFNGR1_000095" "g.137519366G>A" "0.000" "" "" "" "" "Unknown" "" "rs769273978" "0" "" "" "g.137198229G>A" "" "VUS" ""
"0000591947" "0" "53" "6" "137519347" "137519347" "subst" "2.03303E-5" "00000" "IFNGR1_000094" "g.137519347G>A" "0.000" "" "" "" "" "Unknown" "" "rs747857191" "0" "" "" "g.137198210G>A" "" "VUS" ""
"0000591948" "0" "53" "6" "137519346" "137519346" "subst" "0.000199249" "00000" "IFNGR1_000093" "g.137519346G>A" "0.000" "" "" "" "" "Unknown" "" "rs780820310" "0" "" "" "g.137198209G>A" "" "VUS" ""
"0000591949" "0" "53" "6" "137519340" "137519340" "subst" "0" "00000" "IFNGR1_000092" "g.137519340T>C" "0.000" "" "" "" "" "Unknown" "" "rs768445298" "0" "" "" "g.137198203T>C" "" "VUS" ""
"0000591950" "0" "55" "6" "137519339" "137519341" "del" "0" "00000" "IFNGR1_000090" "g.137519339_137519341del" "0.000" "" "" "" "" "Unknown" "" "rs761373796" "0" "" "" "g.137198202_137198204del" "" "VUS" ""
"0000591951" "0" "53" "6" "137519335" "137519335" "subst" "8.1314E-6" "00000" "IFNGR1_000091" "g.137519335T>C" "0.000" "" "" "" "" "Unknown" "" "rs746749869" "0" "" "" "g.137198198T>C" "" "VUS" ""
"0000591952" "0" "53" "6" "137519333" "137519333" "subst" "0" "00000" "IFNGR1_000089" "g.137519333T>A" "N.D." "" "" "" "" "Unknown" "" "rs779877190" "0" "" "" "g.137198196T>A" "" "VUS" ""
"0000591953" "0" "53" "6" "137519331" "137519331" "subst" "4.06597E-6" "00000" "IFNGR1_000088" "g.137519331C>T" "0.000" "" "" "" "" "Unknown" "" "rs758315464" "0" "" "" "g.137198194C>T" "" "VUS" ""
"0000591954" "0" "53" "6" "137519318" "137519318" "subst" "0" "00000" "IFNGR1_000087" "g.137519318T>C" "0.000" "" "" "" "" "Unknown" "" "rs750294418" "0" "" "" "g.137198181T>C" "" "VUS" ""
"0000591955" "0" "57" "6" "137519317" "137519317" "subst" "1.62569E-5" "00000" "IFNGR1_000086" "g.137519317C>T" "0.000" "" "" "" "" "Unknown" "" "rs373865269" "0" "" "" "g.137198180C>T" "" "VUS" ""
"0000591956" "0" "53" "6" "137519313" "137519313" "subst" "0" "00000" "IFNGR1_000085" "g.137519313C>A" "N.D." "" "" "" "" "Unknown" "" "rs779180555" "0" "" "" "g.137198176C>A" "" "VUS" ""
"0000591957" "0" "53" "6" "137519307" "137519307" "subst" "4.06375E-6" "00000" "IFNGR1_000084" "g.137519307T>G" "0.000" "" "" "" "" "Unknown" "" "rs754177386" "0" "" "" "g.137198170T>G" "" "VUS" ""
"0000591958" "0" "53" "6" "137519302" "137519302" "subst" "4.06352E-6" "00000" "IFNGR1_000083" "g.137519302T>A" "0.000" "" "" "" "" "Unknown" "" "rs764340281" "0" "" "" "g.137198165T>A" "" "VUS" ""
"0000591959" "0" "53" "6" "137519301" "137519301" "subst" "3.25071E-5" "00000" "IFNGR1_000082" "g.137519301A>T" "0.000" "" "" "" "" "Unknown" "" "rs761131348" "0" "" "" "g.137198164A>T" "" "VUS" ""
"0000591960" "0" "53" "6" "137519297" "137519297" "subst" "0.00143838" "00000" "IFNGR1_000081" "g.137519297G>A" "0.0002" "" "" "" "" "Unknown" "" "rs41288979" "0" "" "" "g.137198160G>A" "" "VUS" ""
"0000591961" "0" "53" "6" "137519296" "137519296" "subst" "5.28232E-5" "00000" "IFNGR1_000080" "g.137519296C>T" "0.0002" "" "" "" "" "Unknown" "" "rs146424575" "0" "" "" "g.137198159C>T" "" "VUS" ""
"0000591962" "0" "53" "6" "137519287" "137519287" "subst" "8.12592E-6" "00000" "IFNGR1_000079" "g.137519287C>T" "0.000" "" "" "" "" "Unknown" "" "rs769361833" "0" "" "" "g.137198150C>T" "" "VUS" ""
"0000591963" "0" "53" "6" "137519285" "137519285" "subst" "4.46922E-5" "00000" "IFNGR1_000078" "g.137519285G>T" "0.000" "" "" "" "" "Unknown" "" "rs761246504" "0" "" "" "g.137198148G>T" "" "VUS" ""
"0000591964" "0" "53" "6" "137519278" "137519278" "subst" "4.06299E-6" "00000" "IFNGR1_000077" "g.137519278A>C" "0.000" "" "" "" "" "Unknown" "" "rs776280026" "0" "" "" "g.137198141A>C" "" "VUS" ""
"0000591965" "0" "53" "6" "137519270" "137519270" "subst" "0" "00000" "IFNGR1_000076" "g.137519270A>C" "N.D." "" "" "" "" "Unknown" "" "rs56091348" "0" "" "" "g.137198133A>C" "" "VUS" ""
"0000591966" "0" "53" "6" "137519258" "137519258" "subst" "2.03169E-5" "00000" "IFNGR1_000075" "g.137519258T>C" "0.0002" "" "" "" "" "Unknown" "" "rs184353830" "0" "" "" "g.137198121T>C" "" "VUS" ""
"0000591967" "0" "53" "6" "137519255" "137519255" "subst" "1.21892E-5" "00000" "IFNGR1_000074" "g.137519255A>G" "0.000" "" "" "" "" "Unknown" "" "rs746811555" "0" "" "" "g.137198118A>G" "" "VUS" ""
"0000591968" "0" "53" "6" "137519249" "137519249" "subst" "3.25058E-5" "00000" "IFNGR1_000073" "g.137519249T>G" "0.000" "" "" "" "" "Unknown" "" "rs779937662" "0" "" "" "g.137198112T>G" "" "VUS" ""
"0000591969" "0" "57" "6" "137519247" "137519247" "subst" "8.12651E-6" "00000" "IFNGR1_000072" "g.137519247A>G" "0.000" "" "" "" "" "Unknown" "" "rs771739984" "0" "" "" "g.137198110A>G" "" "VUS" ""
"0000591970" "0" "57" "6" "137519245" "137519245" "subst" "4.06339E-6" "00000" "IFNGR1_000071" "g.137519245C>A" "0.000" "" "" "" "" "Unknown" "" "rs745872541" "0" "" "" "g.137198108C>A" "" "VUS" ""
"0000591971" "0" "11" "6" "137519238" "137519238" "subst" "0.051803" "00000" "IFNGR1_000043" "g.137519238A>G" "" "{PMID:Thye 2003:12516030}" "" "" "polymorphism, functional analysis: {PMID20015550:van de Wetering 2010}. Note: indicated as L450P in {PMID12516030:Thye 2003}." "Unknown" "" "rs1887415" "0" "" "" "g.137198101A>G" "" "benign" ""
"0000591972" "0" "57" "6" "137519235" "137519235" "subst" "1.62545E-5" "00000" "IFNGR1_000069" "g.137519235A>C" "0.000" "" "" "" "" "Unknown" "" "rs371217100" "0" "" "" "g.137198098A>C" "" "VUS" ""
"0000591973" "0" "53" "6" "137519225" "137519225" "subst" "2.03227E-5" "00000" "IFNGR1_000068" "g.137519225G>A" "0.000" "" "" "" "" "Unknown" "" "rs749318907" "0" "" "" "g.137198088G>A" "" "VUS" ""
"0000591974" "0" "53" "6" "137519224" "137519224" "subst" "7.31571E-5" "00000" "IFNGR1_000067" "g.137519224C>T" "0.0002" "" "" "" "" "Unknown" "" "rs55924399" "0" "" "" "g.137198087C>T" "" "VUS" ""
"0000591975" "0" "53" "6" "137519223" "137519223" "subst" "4.06412E-6" "00000" "IFNGR1_000066" "g.137519223C>A" "0.000" "" "" "" "" "Unknown" "" "rs756448784" "0" "" "" "g.137198086C>A" "" "VUS" ""
"0000591976" "0" "53" "6" "137519207" "137519207" "subst" "4.06431E-6" "00000" "IFNGR1_000065" "g.137519207A>G" "0.000" "" "" "" "" "Unknown" "" "rs752843050" "0" "" "" "g.137198070A>G" "" "VUS" ""
"0000591977" "0" "53" "6" "137519204" "137519204" "subst" "1.21938E-5" "00000" "IFNGR1_000064" "g.137519204A>G" "0.000" "" "" "" "" "Unknown" "" "rs767986453" "0" "" "" "g.137198067A>G" "" "VUS" ""
"0000591978" "0" "57" "6" "137519200" "137519200" "subst" "4.06491E-6" "00000" "IFNGR1_000063" "g.137519200T>C" "0.000" "" "" "" "" "Unknown" "" "rs755295646" "0" "" "" "g.137198063T>C" "" "VUS" ""
"0000591979" "3" "77" "6" "137519184" "137519184" "subst" "4.06567E-6" "00000" "IFNGR1_000034" "g.137519184G>A" "" "{PMID:Galal 2012:22708048}" "" "S485F, mutation not specified" "" "Germline" "" "" "0" "" "" "g.137198047G>A" "" "likely pathogenic (recessive)" ""
"0000591980" "0" "53" "6" "137519182" "137519182" "subst" "4.0655E-6" "00000" "IFNGR1_000061" "g.137519182T>C" "0.000" "" "" "" "" "Unknown" "" "rs766813898" "0" "" "" "g.137198045T>C" "" "VUS" ""
"0000591981" "0" "53" "6" "137519181" "137519181" "subst" "8.13121E-6" "00000" "IFNGR1_000060" "g.137519181T>C" "0.000" "" "" "" "" "Unknown" "" "rs373493226" "0" "" "" "g.137198044T>C" "" "VUS" ""
"0000591982" "21" "77" "6" "137519179" "137519179" "subst" "0" "00000" "IFNGR1_000053" "g.137519179C>A" "" "personal communication" "" "" "normal 2nd chromosome; variation of unknown significance; not related to disease" "Germline" "" "" "0" "" "" "g.137198042C>A" "" "likely pathogenic" ""
"0000591983" "0" "53" "6" "137519171" "137519171" "subst" "4.0664E-6" "00000" "IFNGR1_000059" "g.137519171T>C" "0.000" "" "" "" "" "Unknown" "" "rs776078690" "0" "" "" "g.137198034T>C" "" "VUS" ""
"0000651848" "1" "30" "6" "137525526" "137525526" "subst" "0.0064476" "03575" "IFNGR1_000244" "g.137525526G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs41288981}" "Germline" "" "rs41288981" "0" "" "" "g.137204389G>A" "" "likely benign" ""
"0000655489" "0" "30" "6" "137527430" "137527430" "subst" "0.00045162" "01943" "IFNGR1_000289" "g.137527430T>C" "" "" "" "IFNGR1(NM_000416.2):c.216A>G (p.E72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137206293T>C" "" "likely benign" ""
"0000655490" "0" "50" "6" "137528112" "137528112" "subst" "0" "01943" "IFNGR1_000019" "g.137528112A>C" "" "" "" "IFNGR1(NM_000416.2):c.188T>G (p.V63G), IFNGR1(NM_001363527.1):c.65T>G (p.V22G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137206975A>C" "" "VUS" ""
"0000677636" "0" "10" "6" "137519780" "137519780" "subst" "0.118195" "01943" "IFNGR1_000343" "g.137519780T>C" "" "" "" "IFNGR1(NM_000416.2):c.862-4A>G, IFNGR1(NM_000416.3):c.862-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000677637" "0" "10" "6" "137524884" "137524884" "dup" "0" "01943" "IFNGR1_000344" "g.137524884dup" "" "" "" "IFNGR1(NM_000416.2):c.547-49dupT, IFNGR1(NM_000416.3):c.547-49dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000677638" "0" "50" "6" "137528190" "137528190" "subst" "0" "01943" "IFNGR1_000311" "g.137528190A>G" "" "" "" "IFNGR1(NM_000416.2):c.110T>C (p.I37T), IFNGR1(NM_001363526.1):c.80T>C (p.I27T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000689630" "0" "30" "6" "137519546" "137519546" "subst" "0.000130042" "01943" "IFNGR1_000133" "g.137519546G>A" "" "" "" "IFNGR1(NM_001363527.1):c.969C>T (p.D323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689631" "0" "90" "6" "137527272" "137527272" "subst" "4.06283E-6" "02326" "IFNGR1_000011" "g.137527272C>A" "" "" "" "IFNGR1(NM_000416.2):c.373+1G>T, IFNGR1(NM_000416.3):c.373+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000689632" "0" "50" "6" "137528119" "137528119" "subst" "0.00072737" "01943" "IFNGR1_000041" "g.137528119C>T" "" "" "" "IFNGR1(NM_001363527.1):c.58G>A (p.V20I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000708349" "21" "99" "6" "137522057" "137522060" "del" "0" "01723" "IFNGR1_000009" "g.137522057_137522060del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000708350" "21" "99" "6" "137525492" "137525492" "del" "1.21907E-5" "01723" "IFNGR1_000022" "g.137525492del" "" "" "" "c.523delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708351" "11" "99" "6" "137524707" "137524707" "subst" "0" "01723" "IFNGR1_000348" "g.137524707A>C" "" "{PMID:Khanolkar 2020:28927822}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000708352" "0" "00" "6" "137522057" "137522060" "del" "0" "01723" "IFNGR1_000009" "g.137522057_137522060del" "" "" "" "c.819_822delTAAT" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000708353" "11" "00" "6" "137528207" "137528215" "del" "4.06375E-6" "01723" "IFNGR1_000349" "g.137528207_137528215del" "" "{PMID:Bossi 2020:32714620}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708354" "21" "99" "6" "137474623" "137552245" "del" "0" "01723" "IFNGR1_000039" "g.137474623_137552245del" "" "{PMID:Bossi 2020:32714620}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000708355" "21" "00" "6" "137524714" "137524714" "subst" "8.12427E-6" "01723" "IFNGR1_000036" "g.137524714C>T" "" "{PMID:Ying 219:31367980}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000708356" "11" "95" "6" "0" "0" "" "0" "01723" "LAMA2_000000" "g.?" "" "{PMID:Ying 2019:31367980}" "" "310C>A but 310=G so not correct" "310C>A but 310=G so not correct" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708357" "3" "00" "6" "137524714" "137524714" "subst" "8.12427E-6" "01723" "IFNGR1_000036" "g.137524714C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708358" "3" "99" "6" "137528165" "137528186" "del" "0" "01723" "IFNGR1_000038" "g.137528165_137528186del" "" "" "" "114-135del, E38fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708359" "21" "97" "6" "137527351" "137527351" "subst" "0" "01723" "IFNGR1_000350" "g.137527351A>G" "" "{PMID:Ying 2019:31367980}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708360" "11" "99" "6" "137525539" "137525539" "del" "0" "01723" "IFNGR1_000351" "g.137525539delA" "" "{PMID:Ying 2019:31367980}" "" "476delT, V159fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708361" "3" "97" "6" "137524714" "137524714" "subst" "8.12427E-6" "01723" "IFNGR1_000036" "g.137524714C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000708362" "0" "99" "6" "137522057" "137522060" "del" "0" "01723" "IFNGR1_000009" "g.137522057_137522060del" "" "" "" "818del4" "second chromosome is normal" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000708363" "3" "99" "6" "137527446" "137527446" "subst" "0" "01723" "IFNGR1_000352" "g.137527446C>A" "" "{PMID:Martinez-Morales 2017:29249112}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000720691" "0" "30" "6" "137528200" "137528200" "subst" "6.90703E-5" "01943" "IFNGR1_000312" "g.137528200T>C" "" "" "" "IFNGR1(NM_001363526.1):c.70A>G (p.N24D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000735445" "0" "70" "6" "137519208" "137519208" "subst" "4.06425E-6" "04011" "IFNGR1_000353" "g.137519208A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000802330" "0" "30" "6" "137524803" "137524803" "subst" "0.000146362" "01943" "IFNGR1_000230" "g.137524803G>T" "" "" "" "IFNGR1(NM_000416.2):c.566C>A (p.T189K), IFNGR1(NM_001363527.1):c.443C>A (p.T148K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802331" "0" "30" "6" "137540417" "137540417" "subst" "0.00107921" "02326" "IFNGR1_000326" "g.137540417C>T" "" "" "" "IFNGR1(NM_000416.2):c.48G>A (p.R16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851087" "0" "30" "6" "137519630" "137519630" "subst" "0.000125973" "02326" "IFNGR1_000151" "g.137519630G>A" "" "" "" "IFNGR1(NM_000416.2):c.1008C>T (p.T336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851088" "0" "50" "6" "137536417" "137536417" "subst" "0" "01943" "IFNGR1_000354" "g.137536417T>C" "" "" "" "IFNGR1(NM_000416.2):c.85+3963A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860183" "0" "30" "6" "137519537" "137519537" "subst" "0.000227546" "02326" "IFNGR1_000130" "g.137519537C>T" "" "" "" "IFNGR1(NM_000416.2):c.1101G>A (p.P367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887055" "0" "30" "6" "137525477" "137525477" "subst" "0.00102827" "02326" "IFNGR1_000046" "g.137525477C>T" "" "" "" "IFNGR1(NM_000416.2):c.538G>A (p.G180R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887056" "0" "30" "6" "137525526" "137525526" "subst" "0.0064476" "01943" "IFNGR1_000244" "g.137525526G>A" "" "" "" "IFNGR1(NM_001363527.1):c.366C>T (p.P122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000887057" "0" "30" "6" "137525635" "137525635" "subst" "6.50364E-5" "02326" "IFNGR1_000269" "g.137525635A>G" "" "" "" "IFNGR1(NM_000416.2):c.380T>C (p.I127T), IFNGR1(NM_000416.3):c.380T>C (p.I127T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000912409" "0" "30" "6" "137525608" "137525608" "subst" "0" "02326" "IFNGR1_000355" "g.137525608T>C" "" "" "" "IFNGR1(NM_000416.2):c.407A>G (p.K136R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948659" "0" "30" "6" "137524656" "137524656" "subst" "8.12539E-6" "02326" "IFNGR1_000195" "g.137524656A>G" "" "" "" "IFNGR1(NM_000416.2):c.713T>C (p.I238T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948660" "0" "30" "6" "137524803" "137524803" "subst" "0.000146362" "02326" "IFNGR1_000230" "g.137524803G>T" "" "" "" "IFNGR1(NM_000416.2):c.566C>A (p.T189K), IFNGR1(NM_001363527.1):c.443C>A (p.T148K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000948661" "0" "90" "6" "137527272" "137527272" "subst" "4.06283E-6" "02327" "IFNGR1_000011" "g.137527272C>A" "" "" "" "IFNGR1(NM_000416.2):c.373+1G>T, IFNGR1(NM_000416.3):c.373+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000995348" "0" "30" "6" "137524780" "137524780" "subst" "0.000239773" "01804" "IFNGR1_000225" "g.137524780C>T" "" "" "" "IFNGR1(NM_000416.2):c.589G>A (p.(Glu197Lys)), IFNGR1(NM_000416.3):c.589G>A (p.E197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000995349" "0" "50" "6" "137525635" "137525635" "subst" "6.50364E-5" "02325" "IFNGR1_000269" "g.137525635A>G" "" "" "" "IFNGR1(NM_000416.2):c.380T>C (p.I127T), IFNGR1(NM_000416.3):c.380T>C (p.I127T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014178" "0" "50" "6" "137524780" "137524780" "subst" "0.000239773" "02325" "IFNGR1_000225" "g.137524780C>T" "" "" "" "IFNGR1(NM_000416.2):c.589G>A (p.(Glu197Lys)), IFNGR1(NM_000416.3):c.589G>A (p.E197K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025174" "0" "30" "6" "137519297" "137519297" "subst" "0.00143838" "02327" "IFNGR1_000081" "g.137519297G>A" "" "" "" "IFNGR1(NM_000416.2):c.1341C>T (p.T447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035496" "0" "90" "6" "137527272" "137527272" "subst" "4.06283E-6" "01804" "IFNGR1_000011" "g.137527272C>A" "" "" "" "IFNGR1(NM_000416.2):c.373+1G>T, IFNGR1(NM_000416.3):c.373+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001046053" "0" "50" "6" "137525626" "137525626" "subst" "0" "02325" "IFNGR1_000356" "g.137525626G>A" "" "" "" "IFNGR1(NM_000416.3):c.389C>T (p.P130L)" "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 IFNGR1
## Count = 455
"{{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}}"
"0000249081" "00009843" "10" "85" "10" "85" "10" "c.85+10T>C" "r.(=)" "p.(=)" ""
"0000251910" "00009843" "30" "1400" "0" "1400" "0" "c.1400T>C" "r.(?)" "p.(Leu467Pro)" ""
"0000254517" "00009843" "30" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Ile238Thr)" ""
"0000281481" "00009843" "10" "547" "-49" "547" "-49" "c.547-49dup" "r.(=)" "p.(=)" ""
"0000281482" "00009843" "10" "862" "-4" "862" "-4" "c.862-4A>G" "r.spl?" "p.?" ""
"0000289420" "00009843" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Thr447=)" ""
"0000289421" "00009843" "90" "373" "1" "373" "1" "c.373+1G>T" "r.spl?" "p.?" ""
"0000345455" "00009843" "50" "1459" "0" "1459" "0" "c.1459G>T" "r.(?)" "p.(Glu487Ter)" ""
"0000527325" "00009843" "30" "1056" "0" "1056" "0" "c.1056A>G" "r.(?)" "p.(Ile352Met)" ""
"0000527326" "00009843" "30" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Val174=)" ""
"0000527327" "00009843" "90" "201" "-1" "201" "-1" "c.201-1G>C" "r.spl?" "p.?" ""
"0000591584" "00009843" "11" "-56" "0" "-56" "0" "c.-56T>C" "r.(?)" "p.(=)" "1"
"0000591585" "00009843" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_7"
"0000591586" "00009843" "99" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1Lys)" "1"
"0000591587" "00009843" "55" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.Met1Arg" "1"
"0000591588" "00009843" "55" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.Ala2Thr" "1"
"0000591589" "00009843" "55" "5" "0" "5" "0" "c.5C>G" "r.(?)" "p.Ala2Gly" "1"
"0000591590" "00009843" "55" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "1"
"0000591591" "00009843" "75" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "1"
"0000591592" "00009843" "55" "9" "0" "9" "0" "c.9C>G" "r.(?)" "p.Leu3Leu" "1"
"0000591593" "00009843" "55" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.Leu4Leu" "1"
"0000591594" "00009843" "55" "13" "0" "13" "0" "c.13T>C" "r.(?)" "p.Phe5Leu" "1"
"0000591595" "00009843" "55" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.Leu9Val" "1"
"0000591596" "00009843" "99" "25" "0" "25" "0" "c.25del" "r.(?)" "p.Val10Serfs*5" "1"
"0000591597" "00009843" "55" "26" "0" "26" "0" "c.26T>A" "r.(?)" "p.Leu9His" "1"
"0000591598" "00009843" "53" "30" "0" "30" "0" "c.30C>T" "r.(?)" "p.Val10Val" "1"
"0000591599" "00009843" "53" "31" "0" "31" "0" "c.31A>T" "r.(?)" "p.Met11Leu" "1"
"0000591600" "00009843" "53" "38" "0" "38" "0" "c.38G>T" "r.(?)" "p.Gly13Val" "1"
"0000591601" "00009843" "11" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Val14Met)" "1"
"0000591602" "00009843" "53" "42" "0" "42" "0" "c.42G>A" "r.(?)" "p.Val14Val" "1"
"0000591603" "00009843" "53" "46" "0" "46" "0" "c.46A>C" "r.(?)" "p.Arg16Arg" "1"
"0000591604" "00009843" "53" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.Arg16Arg" "1"
"0000591605" "00009843" "55" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.Glu18Lys" "1"
"0000591606" "00009843" "53" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.Gly20Arg" "1"
"0000591607" "00009843" "53" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.Thr21Thr" "1"
"0000591608" "00009843" "57" "65" "0" "65" "0" "c.65C>T" "r.(?)" "p.Ala22Val" "1"
"0000591609" "00009843" "53" "73" "0" "73" "0" "c.73G>C" "r.(?)" "p.Gly25Arg" "1"
"0000591610" "00009843" "57" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.Pro26Ser" "1"
"0000591611" "00009843" "53" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.Pro26Leu" "1"
"0000591612" "00009843" "57" "80" "0" "80" "0" "c.80C>T" "r.(?)" "p.Ser27Phe" "1"
"0000591613" "00009843" "53" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.Ser27Ser" "1"
"0000591614" "00009843" "53" "84" "0" "84" "0" "c.84A>G" "r.(?)" "p.Ser28Ser" "1"
"0000591615" "00009843" "53" "92" "0" "92" "0" "c.92C>G" "r.(?)" "p.Thr31Arg" "2"
"0000591616" "00009843" "53" "93" "0" "93" "0" "c.93A>T" "r.(?)" "p.Thr31Thr" "2"
"0000591617" "00009843" "53" "96" "0" "96" "0" "c.96A>C" "r.(?)" "p.Pro32Pro" "2"
"0000591618" "00009843" "57" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.Asn34Asp" "2"
"0000591619" "00009843" "97" "104" "0" "107" "0" "c.104_107dup" "r.(?)" "p.(Ile37Tyrfs*3)" "2"
"0000591620" "00009843" "99" "105" "0" "105" "0" "c.105dup" "r.(?)" "p.(Thr36Tyrfs*3)" "2"
"0000591621" "00009843" "99" "105" "0" "105" "0" "c.105dup" "r.(?)" "p.(Thr36Tyrfs*3)" "2"
"0000591622" "00009843" "99" "106" "0" "107" "0" "c.106_107insT" "r.(?)" "p.(Thr36Ilefs*3)" "2"
"0000591623" "00009843" "57" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.Ile37Thr" "2"
"0000591624" "00009843" "99" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.Ile37Thr" "2"
"0000591625" "00009843" "53" "111" "0" "111" "0" "c.111T>C" "r.(?)" "p.Ile37Ile" "2"
"0000591626" "00009843" "97" "114" "0" "135" "0" "c.114_135del" "r.(?)" "Ser39Tyrfs*16" "2"
"0000591627" "00009843" "53" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.Ser39Ser" "2"
"0000591628" "00009843" "57" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.Pro44Ser" "2"
"0000591629" "00009843" "57" "131" "0" "131" "0" "c.131C>G" "r.(?)" "p.Pro44Arg" "2"
"0000591630" "00009843" "99" "131" "0" "131" "0" "c.131del" "r.(?)" "p.Pro44Leufs*18" "2"
"0000591631" "00009843" "53" "133" "0" "133" "0" "c.133A>G" "r.(?)" "p.Ile45Val" "2"
"0000591632" "00009843" "53" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.Ile45Ile" "2"
"0000591633" "00009843" "53" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.Val46Ile" "2"
"0000591634" "00009843" "53" "139" "0" "139" "0" "c.139T>C" "r.(?)" "p.Tyr47His" "2"
"0000591635" "00009843" "57" "144" "0" "153" "0" "c.144_153del" "r.(?)" "p.Trp48*" "2"
"0000591636" "00009843" "57" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.Gln51Arg" "2"
"0000591637" "00009843" "53" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.Ile52Ile" "2"
"0000591638" "00009843" "53" "159" "0" "159" "0" "c.159G>A" "r.(?)" "p.Met53Ile" "2"
"0000591639" "00009843" "57" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.Gln55Arg" "2"
"0000591640" "00009843" "57" "165" "0" "165" "0" "c.165G>C" "r.(?)" "p.Gln55His" "2"
"0000591641" "00009843" "97" "166" "0" "166" "0" "c.166del" "r.(?)" "p.Val56Serfs*6" "2"
"0000591642" "00009843" "53" "167" "0" "167" "0" "c.167T>G" "r.(?)" "p.Val56Gly" "2"
"0000591643" "00009843" "99" "170" "0" "170" "0" "c.170del" "r.(?)" "p.(Pro57Leufs*5)" "2"
"0000591644" "00009843" "53" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.Thr60Thr" "2"
"0000591645" "00009843" "11" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Val61Ile)" "2"
"0000591646" "00009843" "99" "182" "0" "182" "0" "c.182T>A" "r.(?)" "p.Val61Glu" "2"
"0000591647" "00009843" "57" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.Val61Ala" "2"
"0000591648" "00009843" "57" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.Glu62Lys" "2"
"0000591649" "00009843" "99" "188" "0" "188" "0" "c.188T>G" "r.(?)" "p.(Val63Gly)" "2"
"0000591650" "00009843" "99" "188" "0" "188" "0" "c.188T>G" "r.(?)" "p.(Val63Gly)" "2"
"0000591651" "00009843" "99" "188" "0" "188" "0" "c.188T>G" "r.(?)" "p.(Val63Gly)" "2"
"0000591652" "00009843" "99" "188" "0" "188" "0" "c.188T>G" "r.(?)" "p.(Val63Gly)" "2"
"0000591653" "00009843" "99" "188" "0" "188" "0" "c.188T>G" "r.(?)" "p.(Val63Gly)" "2"
"0000591654" "00009843" "99" "197" "0" "197" "0" "c.197A>G" "r.(?)" "p.(Tyr66Cys)" "2"
"0000591655" "00009843" "57" "197" "0" "197" "0" "c.197A>T" "r.(?)" "p.Tyr66Phe" "2"
"0000591656" "00009843" "97" "200" "1" "200" "1" "c.200+1G>A" "RNA undetectable" "p.(splicing?)" "2i"
"0000591657" "00009843" "99" "201" "-2" "201" "-2" "c.201-2A>G" "201-302del" "p.(Asn70_Lys103del)" "2i"
"0000591658" "00009843" "53" "213" "0" "213" "0" "c.213A>C" "r.(?)" "p.Ser71Ser" "3"
"0000591659" "00009843" "53" "216" "0" "216" "0" "c.216A>G" "r.(?)" "p.Glu72Glu" "3"
"0000591660" "00009843" "53" "222" "0" "222" "0" "c.222T>A" "r.(?)" "p.Ile74Ile" "3"
"0000591661" "00009843" "57" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.Asp75Gly" "3"
"0000591662" "00009843" "57" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.Ala76Thr" "3"
"0000591663" "00009843" "53" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.Ala76Val" "3"
"0000591664" "00009843" "99" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.Cys77Tyr" "3"
"0000591665" "00009843" "99" "230" "0" "230" "0" "c.230G>T" "r.(?)" "p.(Cys77Phe)" "3"
"0000591666" "00009843" "57" "236" "0" "236" "0" "c.236A>G" "r.(?)" "p.Asn79Ser" "3"
"0000591667" "00009843" "53" "246" "0" "246" "0" "c.246T>C" "r.(?)" "p.His82His" "3"
"0000591668" "00009843" "57" "250" "0" "250" "0" "c.250T>C" "r.(?)" "p.Tyr84His" "3"
"0000591669" "00009843" "57" "251" "0" "251" "0" "c.251A>T" "r.(?)" "p.Tyr84Phe" "3"
"0000591670" "00009843" "99" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Cys85Tyr)" "3"
"0000591671" "00009843" "57" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.Asn86Ser" "3"
"0000591672" "00009843" "53" "258" "0" "258" "0" "c.258T>C" "r.(?)" "p.Asn86Asn" "3"
"0000591673" "00009843" "99" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.Ile87Thr" "3"
"0000591674" "00009843" "99" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.Ile87Thr" "3"
"0000591675" "00009843" "99" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.Ile87Thr" "3"
"0000591676" "00009843" "99" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.Ile87Thr" "3"
"0000591677" "00009843" "99" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.Ile87Thr" "3"
"0000591678" "00009843" "99" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.Ile87Thr" "3"
"0000591679" "00009843" "99" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.Ile87Thr" "3"
"0000591680" "00009843" "53" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.Gly92Asp" "3"
"0000591681" "00009843" "53" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.Asn96Asp" "3"
"0000591682" "00009843" "99" "295" "0" "306" "0" "c.295_306del" "r.(?)" "p.Trp99_Val102del" "3"
"0000591683" "00009843" "53" "321" "0" "321" "0" "c.321A>T" "r.(?)" "p.Gly107Gly" "3"
"0000591684" "00009843" "53" "325" "0" "325" "0" "c.325A>G" "r.(?)" "p.Lys109Glu" "3"
"0000591685" "00009843" "53" "326" "0" "326" "0" "c.326A>G" "r.(?)" "p.Lys109Arg" "3"
"0000591686" "00009843" "53" "336" "0" "336" "0" "c.336C>T" "r.(?)" "p.Ala112Ala" "3"
"0000591687" "00009843" "99" "339" "0" "339" "0" "c.339T>A" "r.(?)" "p.(Tyr113*)" "3"
"0000591688" "00009843" "53" "345" "0" "345" "0" "c.345G>A" "r.(?)" "p.Lys115Lys" "3"
"0000591689" "00009843" "99" "347" "0" "347" "0" "c.347C>A" "r.(?)" "p.Ser116*" "3"
"0000591690" "00009843" "99" "347" "0" "347" "0" "c.347C>A" "r.(?)" "p.Ser116*" "3"
"0000591691" "00009843" "57" "365" "0" "365" "0" "c.365G>T" "r.(?)" "p.Cys122Phe" "3"
"0000591692" "00009843" "53" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.Arg123Gln" "3"
"0000591693" "00009843" "53" "371" "0" "371" "0" "c.371A>T" "r.(?)" "p.Asp124Val" "3"
"0000591694" "00009843" "99" "373" "1" "373" "1" "c.373+1G>T" "r.201_373del" "p.Val68Lysfs*6" "3i"
"0000591695" "00009843" "99" "373" "1" "373" "1" "c.373+1G>T" "r.201_373del" "p.Val68Lysfs*6" "3i"
"0000591696" "00009843" "99" "373" "1" "373" "1" "c.373+1G>T" "r.spl?" "p.Val68Lysfs*6" "3i"
"0000591697" "00009843" "53" "379" "0" "379" "0" "c.379A>C" "r.(?)" "p.Ile127Leu" "4"
"0000591698" "00009843" "53" "380" "0" "380" "0" "c.380T>C" "r.(?)" "p.Ile127Thr" "4"
"0000591699" "00009843" "53" "381" "0" "381" "0" "c.381T>G" "r.(?)" "p.Ile127Met" "4"
"0000591700" "00009843" "57" "385" "0" "385" "0" "c.385C>A" "r.(?)" "p.Pro129Thr" "4"
"0000591701" "00009843" "53" "393" "0" "393" "0" "c.393A>C" "r.(?)" "p.Lys131Asn" "4"
"0000591702" "00009843" "53" "396" "0" "396" "0" "c.396G>A" "r.(?)" "p.Leu132Leu" "4"
"0000591703" "00009843" "53" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.Asp133Gly" "4"
"0000591704" "00009843" "53" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.Ile134Ile" "4"
"0000591705" "00009843" "53" "411" "0" "411" "0" "c.411G>C" "r.(?)" "p.Glu137Asp" "4"
"0000591706" "00009843" "53" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.Glu138Lys" "4"
"0000591707" "00009843" "57" "412" "0" "414" "0" "c.412_414del" "r.(?)" "p.Glu138del" "4"
"0000591708" "00009843" "53" "424" "0" "424" "0" "c.424A>T" "r.(?)" "p.Met142Leu" "4"
"0000591709" "00009843" "53" "428" "0" "428" "0" "c.428T>C" "r.(?)" "p.Ile143Thr" "4"
"0000591710" "00009843" "53" "429" "0" "429" "0" "c.429T>G" "r.(?)" "p.Ile143Met" "4"
"0000591711" "00009843" "57" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.Pro148Ser" "4"
"0000591712" "00009843" "57" "443" "0" "443" "0" "c.443C>G" "r.(?)" "p.Pro148Arg" "4"
"0000591713" "00009843" "53" "444" "0" "444" "0" "c.444T>G" "r.(?)" "p.Pro148Pro" "4"
"0000591714" "00009843" "11" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Ser149Leu)" "4"
"0000591715" "00009843" "53" "447" "0" "447" "0" "c.447A>G" "r.(?)" "p.Ser149Ser" "4"
"0000591716" "00009843" "99" "453" "0" "453" "0" "c.453del" "r.(?)" "(Phe151Leufs*2)" "4"
"0000591717" "00009843" "53" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.Asn153Asp" "4"
"0000591718" "00009843" "53" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.Asp155Asp" "4"
"0000591719" "00009843" "53" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.Glu156Lys" "4"
"0000591720" "00009843" "53" "471" "0" "471" "0" "c.471G>T" "r.(?)" "p.Gln157His" "4"
"0000591721" "00009843" "53" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.Glu158Lys" "4"
"0000591722" "00009843" "53" "477" "0" "477" "0" "c.477C>T" "r.(?)" "p.Val159Val" "4"
"0000591723" "00009843" "53" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.Asp160Asn" "4"
"0000591724" "00009843" "53" "481" "0" "481" "0" "c.481T>C" "r.(?)" "p.Tyr161His" "4"
"0000591725" "00009843" "53" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.Pro163Pro" "4"
"0000591726" "00009843" "53" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.Glu164Lys" "4"
"0000591727" "00009843" "53" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.Asn173Asp" "4"
"0000591728" "00009843" "53" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.Asn173Ser" "4"
"0000591729" "00009843" "57" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.Val174Met" "4"
"0000591730" "00009843" "53" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.Val174Val" "4"
"0000591731" "00009843" "99" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Tyr175Metfs*2)" "4"
"0000591732" "00009843" "99" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Tyr175Metfs*2)" "4"
"0000591733" "00009843" "99" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Tyr175Metfs*2)" "4"
"0000591734" "00009843" "99" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Tyr175Metfs*2)" "4"
"0000591735" "00009843" "77" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Tyr175Metfs*2)" "4"
"0000591736" "00009843" "53" "525" "0" "525" "0" "c.525T>C" "r.(?)" "p.Tyr175Tyr" "4"
"0000591737" "00009843" "53" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.Asn179Asn" "4"
"0000591738" "00009843" "15" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.Gly180Arg" "4"
"0000591739" "00009843" "53" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.Glu182Gly" "4"
"0000591740" "00009843" "33" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.Ile183Val" "5"
"0000591741" "00009843" "53" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.Ile183Val" "5"
"0000591742" "00009843" "53" "548" "0" "548" "0" "c.548T>A" "r.(?)" "p.Ile183Asn" "5"
"0000591743" "00009843" "53" "549" "0" "549" "0" "c.549C>G" "r.(?)" "p.Ile183Met" "5"
"0000591744" "00009843" "53" "559" "0" "559" "0" "c.559A>C" "r.(?)" "p.Ile187Leu" "5"
"0000591745" "00009843" "99" "563" "0" "566" "0" "c.563_566del" "r.(?)" "p.Leu188Argfs*14" "5"
"0000591746" "00009843" "99" "563" "0" "566" "0" "c.563_566del" "r.(?)" "p.Leu188Argfs*14" "5"
"0000591747" "00009843" "99" "563" "0" "566" "0" "c.563_566del" "r.(?)" "p.Leu188Argfs*14" "5"
"0000591748" "00009843" "99" "563" "0" "566" "0" "c.563_566del" "r.(?)" "p.Leu188Argfs*14" "5"
"0000591749" "00009843" "53" "566" "0" "566" "0" "c.566C>A" "r.(?)" "p.Thr189Lys" "5"
"0000591750" "00009843" "53" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.Thr189Thr" "5"
"0000591751" "00009843" "33" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.Gln190Arg" "5"
"0000591752" "00009843" "57" "584" "0" "584" "0" "c.584G>T" "r.(?)" "p.Cys195Phe" "5"
"0000591753" "00009843" "53" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.Asp196Asn" "5"
"0000591754" "00009843" "53" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.Asp196Asp" "5"
"0000591755" "00009843" "53" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.Glu197Lys" "5"
"0000591756" "00009843" "53" "595" "0" "595" "0" "c.595C>G" "r.(?)" "p.Gln199Glu" "5"
"0000591757" "00009843" "53" "596" "0" "596" "0" "c.596A>G" "r.(?)" "p.Gln199Arg" "5"
"0000591758" "00009843" "53" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.Cys200Tyr" "5"
"0000591759" "00009843" "53" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.Gln201Gln" "5"
"0000591760" "00009843" "53" "609" "0" "609" "0" "c.609G>A" "r.(?)" "p.Ala203Ala" "5"
"0000591761" "00009843" "53" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.Pro205Ser" "5"
"0000591762" "00009843" "53" "615" "0" "615" "0" "c.615A>C" "r.(?)" "p.Pro205Pro" "5"
"0000591763" "00009843" "53" "619" "0" "619" "0" "c.619T>A" "r.(?)" "p.Ser207Thr" "5"
"0000591764" "00009843" "53" "625" "0" "625" "0" "c.625C>A" "r.(?)" "p.Leu209Met" "5"
"0000591765" "00009843" "53" "627" "0" "627" "0" "c.627G>A" "r.(?)" "p.Leu209Leu" "5"
"0000591766" "00009843" "53" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.Ser211Phe" "5"
"0000591767" "00009843" "57" "640" "0" "640" "0" "c.640T>A" "r.(?)" "p.Cys214Ser" "5"
"0000591768" "00009843" "53" "653" "0" "653" "0" "c.653A>C" "r.(?)" "p.Glu218Ala" "5"
"0000591769" "00009843" "99" "653" "0" "655" "0" "c.653_655del" "r.(?)" "p.Glu218del" "5"
"0000591770" "00009843" "77" "653" "0" "655" "0" "c.653_655del" "r.(?)" "p.Glu218del" "5"
"0000591771" "00009843" "77" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "5"
"0000591772" "00009843" "53" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.Leu221Leu" "5"
"0000591773" "00009843" "53" "663" "0" "663" "0" "c.663A>T" "r.(?)" "p.Leu221Phe" "5"
"0000591774" "00009843" "53" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.His222Tyr" "5"
"0000591775" "00009843" "53" "665" "0" "665" "0" "c.665A>G" "r.(?)" "p.His222Arg" "5"
"0000591776" "00009843" "53" "666" "0" "666" "0" "c.666T>G" "r.(?)" "p.His222Gln" "5"
"0000591777" "00009843" "53" "667" "0" "667" "0" "c.667G>C" "r.(?)" "p.Val223Leu" "5"
"0000591778" "00009843" "77" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Trp224*)" "5"
"0000591779" "00009843" "53" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.Gly225Ser" "5"
"0000591780" "00009843" "53" "674" "0" "674" "0" "c.674G>T" "r.(?)" "p.Gly225Val" "5"
"0000591781" "00009843" "53" "676" "0" "676" "0" "c.676G>T" "r.(?)" "p.Val226Phe" "5"
"0000591782" "00009843" "57" "679" "0" "679" "0" "c.679dup" "r.(?)" "p.Thr227Asnfs*3" "5"
"0000591783" "00009843" "99" "683" "0" "683" "0" "c.683del" "r.(?)" "p.(Thr228Metfs*16)" "5"
"0000591784" "00009843" "53" "685" "0" "685" "0" "c.685G>C" "r.(?)" "p.Glu229Gln" "5"
"0000591785" "00009843" "53" "694" "0" "694" "0" "c.694A>G" "r.(?)" "p.Lys232Glu" "5"
"0000591786" "00009843" "53" "698" "0" "698" "0" "c.698A>C" "r.(?)" "p.Glu233Ala" "5"
"0000591787" "00009843" "53" "702" "0" "702" "0" "c.702T>C" "r.(?)" "p.Val234Val" "5"
"0000591788" "00009843" "57" "703" "0" "703" "0" "c.703del" "r.(?)" "p.Cys235Valfs*9" "5"
"0000591789" "00009843" "53" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.Thr237Thr" "5"
"0000591790" "00009843" "53" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.Ile238Thr" "5"
"0000591791" "00009843" "53" "718" "0" "718" "0" "c.718A>G" "r.(?)" "p.Asn240Asp" "5"
"0000591792" "00009843" "53" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.Ser241Asn" "5"
"0000591793" "00009843" "53" "723" "0" "723" "0" "c.723C>T" "r.(?)" "p.Ser241Ser" "5"
"0000591794" "00009843" "57" "724" "0" "724" "0" "c.724A>G" "r.(?)" "p.Ser242Gly" "5"
"0000591795" "00009843" "53" "729" "0" "729" "0" "c.729A>G" "r.(?)" "p.Ile243Met" "5"
"0000591796" "00009843" "53" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.Lys244Arg" "5"
"0000591797" "00009843" "53" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.Leu247Phe" "6"
"0000591798" "00009843" "53" "740" "0" "740" "0" "c.740T>C" "r.(?)" "p.Leu247Pro" "6"
"0000591799" "00009843" "53" "751" "0" "751" "0" "c.751G>C" "r.(?)" "p.Val251Leu" "6"
"0000591800" "00009843" "53" "771" "0" "771" "0" "c.771C>A" "r.(?)" "p.Leu257Leu" "6"
"0000591801" "00009843" "53" "774" "0" "774" "0" "c.774T>C" "r.(?)" "p.Phe258Phe" "6"
"0000591802" "00009843" "99" "774" "0" "777" "0" "c.774_777del" "r.(?)" "p.(Phe258Leufs*18)" "6"
"0000591803" "00009843" "57" "775" "0" "775" "0" "c.775C>G" "r.(?)" "p.Leu259Val" "6"
"0000591804" "00009843" "33" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.Val264Ile" "6"
"0000591805" "00009843" "99" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*12)" "6"
"0000591806" "00009843" "53" "796" "0" "796" "0" "c.796A>G" "r.(?)" "p.Ile266Val" "6"
"0000591807" "00009843" "99" "805" "0" "805" "0" "c.805del" "r.(?)" "p.(Tyr269Ilefs*8)" "6"
"0000591808" "00009843" "57" "805" "0" "805" "0" "c.805T>A" "r.(?)" "p.Tyr269Asn" "6"
"0000591809" "00009843" "99" "813" "0" "816" "0" "c.813_816del" "r.(?)" "p.(Lys272Leufs*4)" "6"
"0000591810" "00009843" "99" "813" "0" "816" "0" "c.813_816del" "r.(?)" "p.(Lys272Leufs*4)" "6"
"0000591811" "00009843" "99" "817" "0" "817" "0" "c.817dup" "r.(?)" "p.Ile273Asnfs*2" "6"
"0000591812" "00009843" "99" "819" "0" "819" "0" "c.819del" "r.(?)" "p.(Asn274Ilefs*3)" "6"
"0000591813" "00009843" "99" "819" "0" "819" "0" "c.819del" "r.(?)" "p.(Asn274Ilefs*3)" "6"
"0000591814" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591815" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591816" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591817" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591818" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591819" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591820" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591821" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591822" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591823" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591824" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000591825" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591826" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591827" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591828" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591829" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591830" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591831" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591832" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591833" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591834" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591835" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591836" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591837" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591838" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591839" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591840" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591841" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591842" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591843" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591844" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591845" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591846" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591847" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591848" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591849" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591850" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591851" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591852" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591853" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591854" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.Asn274Hisfs*2" "6"
"0000591855" "00009843" "57" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.Pro275Thr" "6"
"0000591856" "00009843" "53" "826" "0" "826" "0" "c.826T>C" "r.(?)" "p.Leu276Leu" "6"
"0000591857" "00009843" "57" "831" "0" "831" "0" "c.831G>T" "r.(?)" "p.Lys277Asn" "6"
"0000591858" "00009843" "99" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Glu278*)" "6"
"0000591859" "00009843" "99" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Glu278*)" "6"
"0000591860" "00009843" "57" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.Ile281Val" "6"
"0000591861" "00009843" "57" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.Ile281Met" "6"
"0000591862" "00009843" "57" "844" "0" "846" "0" "c.844_846del" "r.(?)" "p.Ile282del" "6"
"0000591863" "00009843" "57" "857" "0" "857" "0" "c.857C>T" "r.(?)" "p.Ser286Phe" "6"
"0000591864" "00009843" "35" "864" "0" "864" "0" "c.864C>G" "r.(?)" "p.(Ile288Met)" "7"
"0000591865" "00009843" "53" "864" "0" "864" "0" "c.864C>G" "r.(?)" "p.Ile288Met" "7"
"0000591866" "00009843" "57" "866" "0" "866" "0" "c.866C>G" "r.(?)" "p.Ser289Cys" "7"
"0000591867" "00009843" "53" "897" "0" "897" "0" "c.897A>G" "r.(?)" "p.Lys299Lys" "7"
"0000591868" "00009843" "53" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.Tyr304Cys" "7"
"0000591869" "00009843" "53" "920" "0" "920" "0" "c.920T>G" "r.(?)" "p.Leu307Arg" "7"
"0000591870" "00009843" "57" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.Thr309Lys" "7"
"0000591871" "00009843" "53" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.Thr309Thr" "7"
"0000591872" "00009843" "57" "932" "0" "932" "0" "c.932A>C" "r.(?)" "p.Tyr311Ser" "7"
"0000591873" "00009843" "53" "933" "0" "933" "0" "c.933C>T" "r.(?)" "p.Tyr311Tyr" "7"
"0000591874" "00009843" "57" "938" "0" "938" "0" "c.938C>G" "r.(?)" "p.Pro313Arg" "7"
"0000591875" "00009843" "57" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.Glu317Gly" "7"
"0000591876" "00009843" "53" "953" "0" "953" "0" "c.953A>G" "r.(?)" "p.Lys318Arg" "7"
"0000591877" "00009843" "53" "957" "0" "957" "0" "c.957G>A" "r.(?)" "p.Glu319Glu" "7"
"0000591878" "00009843" "53" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.Val320Val" "7"
"0000591879" "00009843" "53" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.Val321Ile" "7"
"0000591880" "00009843" "53" "974" "0" "974" "0" "c.974C>T" "r.(?)" "p.Pro325Leu" "7"
"0000591881" "00009843" "53" "975" "0" "975" "0" "c.975G>A" "r.(?)" "p.Pro325Pro" "7"
"0000591882" "00009843" "57" "979" "0" "979" "0" "c.979T>A" "r.(?)" "p.Ser327Thr" "7"
"0000591883" "00009843" "53" "984" "0" "984" "0" "c.984A>G" "r.(?)" "p.Pro328Pro" "7"
"0000591884" "00009843" "57" "988" "0" "988" "0" "c.988A>G" "r.(?)" "p.Thr330Ala" "7"
"0000591885" "00009843" "11" "1004" "0" "1004" "0" "c.1004A>C" "r.(?)" "p.(His335Pro)" "7"
"0000591886" "00009843" "57" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.Thr336Ile" "7"
"0000591887" "00009843" "53" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.Thr336Thr" "7"
"0000591888" "00009843" "57" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.Glu337Lys" "7"
"0000591889" "00009843" "57" "1013" "0" "1013" "0" "c.1013A>G" "r.(?)" "p.Asp338Gly" "7"
"0000591890" "00009843" "53" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.Asn339Ser" "7"
"0000591891" "00009843" "35" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.(Val343Met)" "7"
"0000591892" "00009843" "53" "1027" "0" "1027" "0" "c.1027G>A" "r.(?)" "p.Val343Met" "7"
"0000591893" "00009843" "75" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(His345Arg)" "7"
"0000591894" "00009843" "53" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.His345Arg" "7"
"0000591895" "00009843" "53" "1037" "0" "1037" "0" "c.1037C>T" "r.(?)" "p.Thr346Ile" "7"
"0000591896" "00009843" "53" "1038" "0" "1038" "0" "c.1038A>G" "r.(?)" "p.Thr346Thr" "7"
"0000591897" "00009843" "57" "1043" "0" "1043" "0" "c.1043A>C" "r.(?)" "p.Glu348Ala" "7"
"0000591898" "00009843" "53" "1047" "0" "1047" "0" "c.1047T>G" "r.(?)" "p.Leu349Leu" "7"
"0000591899" "00009843" "57" "1048" "0" "1048" "0" "c.1048T>C" "r.(?)" "p.Ser350Pro" "7"
"0000591900" "00009843" "57" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.Ser350Phe" "7"
"0000591901" "00009843" "53" "1050" "0" "1050" "0" "c.1050T>G" "r.(?)" "p.Ser350Ser" "7"
"0000591902" "00009843" "53" "1051" "0" "1051" "0" "c.1051A>C" "r.(?)" "p.Ser351Arg" "7"
"0000591903" "00009843" "53" "1054" "0" "1054" "0" "c.1054A>G" "r.(?)" "p.Ile352Val" "7"
"0000591904" "00009843" "11" "1056" "0" "1056" "0" "c.1056A>G" "r.(?)" "p.(Ile352Met)" "7"
"0000591905" "00009843" "53" "1069" "0" "1069" "0" "c.1069A>G" "r.(?)" "p.Thr357Ala" "7"
"0000591906" "00009843" "53" "1081" "0" "1081" "0" "c.1081A>T" "r.(?)" "p.Asn361Tyr" "7"
"0000591907" "00009843" "53" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.Asp364Asp" "7"
"0000591908" "00009843" "53" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.Val365Met" "7"
"0000591909" "00009843" "53" "1100" "0" "1100" "0" "c.1100C>T" "r.(?)" "p.Pro367Leu" "7"
"0000591910" "00009843" "53" "1101" "0" "1101" "0" "c.1101G>A" "r.(?)" "p.Pro367Pro" "7"
"0000591911" "00009843" "53" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.Thr372Thr" "7"
"0000591912" "00009843" "53" "1120" "0" "1120" "0" "c.1120A>G" "r.(?)" "p.Ile374Val" "7"
"0000591913" "00009843" "57" "1132" "0" "1133" "0" "c.1132_1133del" "r.(?)" "p.Ser378Phefs*6" "7"
"0000591914" "00009843" "53" "1141" "0" "1141" "0" "c.1141C>A" "r.(?)" "p.Pro381Thr" "7"
"0000591915" "00009843" "53" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.Asn385Asn" "7"
"0000591916" "00009843" "57" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.Gln386*" "7"
"0000591917" "00009843" "57" "1159" "0" "1159" "0" "c.1159T>C" "r.(?)" "p.Ser387Pro" "7"
"0000591918" "00009843" "53" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.Gly390Asp" "7"
"0000591919" "00009843" "53" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.Ile392Ile" "7"
"0000591920" "00009843" "53" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.Ala393Thr" "7"
"0000591921" "00009843" "57" "1187" "0" "1187" "0" "c.1187C>T" "r.(?)" "p.Ser396Leu" "7"
"0000591922" "00009843" "53" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.Ser396Ser" "7"
"0000591923" "00009843" "33" "1190" "0" "1190" "0" "c.1190A>G" "r.(?)" "p.(Tyr397Cys)" "7"
"0000591924" "00009843" "53" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.His398His" "7"
"0000591925" "00009843" "57" "1204" "0" "1230" "0" "c.1204_1230del" "r.(?)" "p.Cys402_Asn410del" "7"
"0000591926" "00009843" "57" "1205" "0" "1205" "0" "c.1205dup" "r.(?)" "p.Cys402Trpfs*3" "7"
"0000591927" "00009843" "53" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.Cys402Tyr" "7"
"0000591928" "00009843" "53" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.Ser405Asn" "7"
"0000591929" "00009843" "53" "1217" "0" "1217" "0" "c.1217A>T" "r.(?)" "p.Asp406Val" "7"
"0000591930" "00009843" "53" "1220" "0" "1220" "0" "c.1220A>C" "r.(?)" "p.His407Pro" "7"
"0000591931" "00009843" "53" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.His407His" "7"
"0000591932" "00009843" "53" "1228" "0" "1228" "0" "c.1228A>G" "r.(?)" "p.Asn410Asp" "7"
"0000591933" "00009843" "53" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.Gly411Ser" "7"
"0000591934" "00009843" "53" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.Gly411Asp" "7"
"0000591935" "00009843" "53" "1235" "0" "1235" "0" "c.1235T>C" "r.(?)" "p.Phe412Ser" "7"
"0000591936" "00009843" "53" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.Phe412Phe" "7"
"0000591937" "00009843" "53" "1238" "0" "1238" "0" "c.1238A>T" "r.(?)" "p.Asp413Val" "7"
"0000591938" "00009843" "57" "1244" "0" "1244" "0" "c.1244A>C" "r.(?)" "p.Asp415Ala" "7"
"0000591939" "00009843" "57" "1246" "0" "1246" "0" "c.1246T>G" "r.(?)" "p.Ser416Ala" "7"
"0000591940" "00009843" "53" "1251" "0" "1251" "0" "c.1251C>G" "r.(?)" "p.Ser417Arg" "7"
"0000591941" "00009843" "53" "1260" "0" "1260" "0" "c.1260A>G" "r.(?)" "p.Glu420Glu" "7"
"0000591942" "00009843" "53" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.His422Arg" "7"
"0000591943" "00009843" "35" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Ser423Asn)" "7"
"0000591944" "00009843" "53" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.Ser423Asn" "7"
"0000591945" "00009843" "53" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.Ser423Ser" "7"
"0000591946" "00009843" "53" "1272" "0" "1272" "0" "c.1272C>T" "r.(?)" "p.Ser424Ser" "7"
"0000591947" "00009843" "53" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.Pro431Ser" "7"
"0000591948" "00009843" "53" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.Pro431Leu" "7"
"0000591949" "00009843" "53" "1298" "0" "1298" "0" "c.1298A>G" "r.(?)" "p.Asn433Ser" "7"
"0000591950" "00009843" "55" "1302" "0" "1304" "0" "c.1302_1304del" "r.(?)" "p.Asn434del" "7"
"0000591951" "00009843" "53" "1303" "0" "1303" "0" "c.1303A>G" "r.(?)" "p.Lys435Glu" "7"
"0000591952" "00009843" "53" "1305" "0" "1305" "0" "c.1305A>T" "r.(?)" "p.Lys435Asn" "7"
"0000591953" "00009843" "53" "1307" "0" "1307" "0" "c.1307G>A" "r.(?)" "p.Gly436Asp" "7"
"0000591954" "00009843" "53" "1320" "0" "1320" "0" "c.1320A>G" "r.(?)" "p.Thr440Thr" "7"
"0000591955" "00009843" "57" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.Glu441Lys" "7"
"0000591956" "00009843" "53" "1325" "0" "1325" "0" "c.1325G>T" "r.(?)" "p.Gly442Val" "7"
"0000591957" "00009843" "53" "1331" "0" "1331" "0" "c.1331A>C" "r.(?)" "p.Glu444Ala" "7"
"0000591958" "00009843" "53" "1336" "0" "1336" "0" "c.1336A>T" "r.(?)" "p.Ile446Leu" "7"
"0000591959" "00009843" "53" "1337" "0" "1337" "0" "c.1337T>A" "r.(?)" "p.Ile446Lys" "7"
"0000591960" "00009843" "53" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.Thr447Thr" "7"
"0000591961" "00009843" "53" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.Val448Ile" "7"
"0000591962" "00009843" "53" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.Ala451Thr" "7"
"0000591963" "00009843" "53" "1353" "0" "1353" "0" "c.1353C>A" "r.(?)" "p.Ala451Ala" "7"
"0000591964" "00009843" "53" "1360" "0" "1360" "0" "c.1360T>G" "r.(?)" "p.Ser454Ala" "7"
"0000591965" "00009843" "53" "1368" "0" "1368" "0" "c.1368T>G" "r.(?)" "p.Gly456Gly" "7"
"0000591966" "00009843" "53" "1380" "0" "1380" "0" "c.1380A>G" "r.(?)" "p.Pro460Pro" "7"
"0000591967" "00009843" "53" "1383" "0" "1383" "0" "c.1383T>C" "r.(?)" "p.His461His" "7"
"0000591968" "00009843" "53" "1389" "0" "1389" "0" "c.1389A>C" "r.(?)" "p.Leu463Leu" "7"
"0000591969" "00009843" "57" "1391" "0" "1391" "0" "c.1391T>C" "r.(?)" "p.Val464Ala" "7"
"0000591970" "00009843" "57" "1393" "0" "1393" "0" "c.1393G>T" "r.(?)" "p.Asp465Tyr" "7"
"0000591971" "00009843" "11" "1400" "0" "1400" "0" "c.1400T>C" "r.(?)" "p.(Leu467Pro)" "7"
"0000591972" "00009843" "57" "1403" "0" "1403" "0" "c.1403T>G" "r.(?)" "p.Val468Gly" "7"
"0000591973" "00009843" "53" "1413" "0" "1413" "0" "c.1413C>T" "r.(?)" "p.Ser471Ser" "7"
"0000591974" "00009843" "53" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.Gly472Ser" "7"
"0000591975" "00009843" "53" "1415" "0" "1415" "0" "c.1415G>T" "r.(?)" "p.Gly472Val" "7"
"0000591976" "00009843" "53" "1431" "0" "1431" "0" "c.1431T>C" "r.(?)" "p.Ile477Ile" "7"
"0000591977" "00009843" "53" "1434" "0" "1434" "0" "c.1434T>C" "r.(?)" "p.Gly478Gly" "7"
"0000591978" "00009843" "57" "1438" "0" "1438" "0" "c.1438A>G" "r.(?)" "p.Arg480Gly" "7"
"0000591979" "00009843" "77" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ser485Phe)" "7"
"0000591980" "00009843" "53" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.Lys486Glu" "7"
"0000591981" "00009843" "53" "1457" "0" "1457" "0" "c.1457A>G" "r.(?)" "p.Lys486Arg" "7"
"0000591982" "00009843" "77" "1459" "0" "1459" "0" "c.1459G>T" "r.(?)" "p.(Glu487*)" "7"
"0000591983" "00009843" "53" "1467" "0" "1467" "0" "c.1467A>G" "r.(?)" "p.Ser489Ser" "7"
"0000651848" "00009843" "30" "489" "0" "489" "0" "c.489C>T" "r.(=)" "p.(=)" ""
"0000655489" "00009843" "30" "216" "0" "216" "0" "c.216A>G" "r.(?)" "p.(Glu72=)" ""
"0000655490" "00009843" "50" "188" "0" "188" "0" "c.188T>G" "r.(?)" "p.(Val63Gly)" ""
"0000677636" "00009843" "10" "862" "-4" "862" "-4" "c.862-4A>G" "r.spl?" "p.?" ""
"0000677637" "00009843" "10" "547" "-49" "547" "-49" "c.547-49dup" "r.(=)" "p.(=)" ""
"0000677638" "00009843" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" ""
"0000689630" "00009843" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(Asp364=)" ""
"0000689631" "00009843" "90" "373" "1" "373" "1" "c.373+1G>T" "r.spl?" "p.?" ""
"0000689632" "00009843" "50" "181" "0" "181" "0" "c.181G>A" "r.(?)" "p.(Val61Ile)" ""
"0000708349" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" "6"
"0000708350" "00009843" "99" "523" "0" "523" "0" "c.523del" "r.(?)" "p.(Tyr175Metfs*2)" ""
"0000708351" "00009843" "99" "662" "0" "662" "0" "c.662T>G" "r.(?)" "p.(Leu221*)" ""
"0000708352" "00009843" "00" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" ""
"0000708353" "00009843" "00" "86" "-1" "93" "0" "c.86-1_93del" "r.spl?" "p.?" ""
"0000708354" "00009843" "99" "0" "0" "0" "0" "c.0" "r.0" "p.0" "1_7"
"0000708355" "00009843" "00" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" ""
"0000708356" "00009843" "95" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" ""
"0000708357" "00009843" "00" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" ""
"0000708358" "00009843" "99" "114" "0" "135" "0" "c.114_135del" "r.(?)" "p.(Ser39Tyrfs*16)" ""
"0000708359" "00009843" "97" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Trp99Arg)" ""
"0000708360" "00009843" "99" "476" "0" "476" "0" "c.476del" "r.(?)" "p.(Val159Alafs*18)" ""
"0000708361" "00009843" "97" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" ""
"0000708362" "00009843" "99" "819" "0" "822" "0" "c.819_822del" "r.(?)" "p.(Asn274Hisfs*2)" ""
"0000708363" "00009843" "99" "201" "-1" "201" "-1" "c.201-1G>T" "r.spl?" "p.?" "i2"
"0000720691" "00009843" "30" "100" "0" "100" "0" "c.100A>G" "r.(?)" "p.(Asn34Asp)" ""
"0000735445" "00009843" "50" "1430" "0" "1430" "0" "c.1430T>C" "r.(?)" "p.(Ile477Thr)" ""
"0000802330" "00009843" "30" "566" "0" "566" "0" "c.566C>A" "r.(?)" "p.(Thr189Lys)" ""
"0000802331" "00009843" "30" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.(Arg16=)" ""
"0000851087" "00009843" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Thr336=)" ""
"0000851088" "00009843" "50" "85" "3963" "85" "3963" "c.85+3963A>G" "r.(=)" "p.(=)" ""
"0000860183" "00009843" "30" "1101" "0" "1101" "0" "c.1101G>A" "r.(?)" "p.(Pro367=)" ""
"0000887055" "00009843" "30" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Gly180Arg)" ""
"0000887056" "00009843" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Pro163=)" ""
"0000887057" "00009843" "30" "380" "0" "380" "0" "c.380T>C" "r.(?)" "p.(Ile127Thr)" ""
"0000912409" "00009843" "30" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Lys136Arg)" ""
"0000948659" "00009843" "30" "713" "0" "713" "0" "c.713T>C" "r.(?)" "p.(Ile238Thr)" ""
"0000948660" "00009843" "30" "566" "0" "566" "0" "c.566C>A" "r.(?)" "p.(Thr189Lys)" ""
"0000948661" "00009843" "90" "373" "1" "373" "1" "c.373+1G>T" "r.spl?" "p.?" ""
"0000995348" "00009843" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" ""
"0000995349" "00009843" "50" "380" "0" "380" "0" "c.380T>C" "r.(?)" "p.(Ile127Thr)" ""
"0001014178" "00009843" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Glu197Lys)" ""
"0001025174" "00009843" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Thr447=)" ""
"0001035496" "00009843" "90" "373" "1" "373" "1" "c.373+1G>T" "r.spl?" "p.?" ""
"0001046053" "00009843" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Pro130Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 417
"{{screeningid}}" "{{variantid}}"
"0000261763" "0000591584"
"0000261763" "0000591587"
"0000261763" "0000591588"
"0000261763" "0000591589"
"0000261763" "0000591591"
"0000261763" "0000591592"
"0000261763" "0000591593"
"0000261763" "0000591594"
"0000261763" "0000591595"
"0000261763" "0000591597"
"0000261763" "0000591598"
"0000261763" "0000591599"
"0000261763" "0000591600"
"0000261763" "0000591601"
"0000261763" "0000591602"
"0000261763" "0000591603"
"0000261763" "0000591604"
"0000261763" "0000591605"
"0000261763" "0000591606"
"0000261763" "0000591607"
"0000261763" "0000591608"
"0000261763" "0000591609"
"0000261763" "0000591610"
"0000261763" "0000591611"
"0000261763" "0000591612"
"0000261763" "0000591613"
"0000261763" "0000591614"
"0000261763" "0000591615"
"0000261763" "0000591616"
"0000261763" "0000591617"
"0000261763" "0000591618"
"0000261763" "0000591623"
"0000261763" "0000591625"
"0000261763" "0000591627"
"0000261763" "0000591628"
"0000261763" "0000591629"
"0000261763" "0000591631"
"0000261763" "0000591632"
"0000261763" "0000591633"
"0000261763" "0000591634"
"0000261763" "0000591635"
"0000261763" "0000591636"
"0000261763" "0000591637"
"0000261763" "0000591638"
"0000261763" "0000591639"
"0000261763" "0000591640"
"0000261763" "0000591642"
"0000261763" "0000591644"
"0000261763" "0000591645"
"0000261763" "0000591647"
"0000261763" "0000591648"
"0000261763" "0000591655"
"0000261763" "0000591658"
"0000261763" "0000591659"
"0000261763" "0000591660"
"0000261763" "0000591661"
"0000261763" "0000591662"
"0000261763" "0000591663"
"0000261763" "0000591666"
"0000261763" "0000591667"
"0000261763" "0000591668"
"0000261763" "0000591669"
"0000261763" "0000591671"
"0000261763" "0000591672"
"0000261763" "0000591680"
"0000261763" "0000591681"
"0000261763" "0000591683"
"0000261763" "0000591684"
"0000261763" "0000591685"
"0000261763" "0000591686"
"0000261763" "0000591688"
"0000261763" "0000591691"
"0000261763" "0000591692"
"0000261763" "0000591693"
"0000261763" "0000591697"
"0000261763" "0000591698"
"0000261763" "0000591699"
"0000261763" "0000591700"
"0000261763" "0000591701"
"0000261763" "0000591702"
"0000261763" "0000591703"
"0000261763" "0000591704"
"0000261763" "0000591705"
"0000261763" "0000591706"
"0000261763" "0000591707"
"0000261763" "0000591708"
"0000261763" "0000591709"
"0000261763" "0000591710"
"0000261763" "0000591711"
"0000261763" "0000591712"
"0000261763" "0000591713"
"0000261763" "0000591715"
"0000261763" "0000591717"
"0000261763" "0000591718"
"0000261763" "0000591719"
"0000261763" "0000591720"
"0000261763" "0000591721"
"0000261763" "0000591722"
"0000261763" "0000591723"
"0000261763" "0000591724"
"0000261763" "0000591725"
"0000261763" "0000591726"
"0000261763" "0000591727"
"0000261763" "0000591728"
"0000261763" "0000591729"
"0000261763" "0000591730"
"0000261763" "0000591736"
"0000261763" "0000591737"
"0000261763" "0000591738"
"0000261763" "0000591739"
"0000261763" "0000591740"
"0000261763" "0000591741"
"0000261763" "0000591742"
"0000261763" "0000591743"
"0000261763" "0000591744"
"0000261763" "0000591749"
"0000261763" "0000591750"
"0000261763" "0000591752"
"0000261763" "0000591753"
"0000261763" "0000591754"
"0000261763" "0000591755"
"0000261763" "0000591756"
"0000261763" "0000591757"
"0000261763" "0000591758"
"0000261763" "0000591759"
"0000261763" "0000591760"
"0000261763" "0000591761"
"0000261763" "0000591762"
"0000261763" "0000591763"
"0000261763" "0000591764"
"0000261763" "0000591765"
"0000261763" "0000591766"
"0000261763" "0000591767"
"0000261763" "0000591768"
"0000261763" "0000591772"
"0000261763" "0000591773"
"0000261763" "0000591774"
"0000261763" "0000591775"
"0000261763" "0000591776"
"0000261763" "0000591777"
"0000261763" "0000591779"
"0000261763" "0000591780"
"0000261763" "0000591781"
"0000261763" "0000591782"
"0000261763" "0000591784"
"0000261763" "0000591785"
"0000261763" "0000591786"
"0000261763" "0000591787"
"0000261763" "0000591788"
"0000261763" "0000591789"
"0000261763" "0000591790"
"0000261763" "0000591791"
"0000261763" "0000591792"
"0000261763" "0000591793"
"0000261763" "0000591794"
"0000261763" "0000591795"
"0000261763" "0000591796"
"0000261763" "0000591797"
"0000261763" "0000591798"
"0000261763" "0000591799"
"0000261763" "0000591800"
"0000261763" "0000591801"
"0000261763" "0000591803"
"0000261763" "0000591804"
"0000261763" "0000591806"
"0000261763" "0000591808"
"0000261763" "0000591855"
"0000261763" "0000591856"
"0000261763" "0000591857"
"0000261763" "0000591860"
"0000261763" "0000591861"
"0000261763" "0000591862"
"0000261763" "0000591863"
"0000261763" "0000591864"
"0000261763" "0000591865"
"0000261763" "0000591866"
"0000261763" "0000591867"
"0000261763" "0000591868"
"0000261763" "0000591869"
"0000261763" "0000591870"
"0000261763" "0000591871"
"0000261763" "0000591872"
"0000261763" "0000591873"
"0000261763" "0000591874"
"0000261763" "0000591875"
"0000261763" "0000591876"
"0000261763" "0000591877"
"0000261763" "0000591878"
"0000261763" "0000591879"
"0000261763" "0000591880"
"0000261763" "0000591881"
"0000261763" "0000591882"
"0000261763" "0000591883"
"0000261763" "0000591884"
"0000261763" "0000591885"
"0000261763" "0000591886"
"0000261763" "0000591887"
"0000261763" "0000591888"
"0000261763" "0000591889"
"0000261763" "0000591890"
"0000261763" "0000591891"
"0000261763" "0000591892"
"0000261763" "0000591893"
"0000261763" "0000591894"
"0000261763" "0000591895"
"0000261763" "0000591896"
"0000261763" "0000591897"
"0000261763" "0000591898"
"0000261763" "0000591899"
"0000261763" "0000591900"
"0000261763" "0000591901"
"0000261763" "0000591902"
"0000261763" "0000591903"
"0000261763" "0000591905"
"0000261763" "0000591906"
"0000261763" "0000591907"
"0000261763" "0000591908"
"0000261763" "0000591909"
"0000261763" "0000591910"
"0000261763" "0000591911"
"0000261763" "0000591912"
"0000261763" "0000591913"
"0000261763" "0000591914"
"0000261763" "0000591915"
"0000261763" "0000591916"
"0000261763" "0000591917"
"0000261763" "0000591918"
"0000261763" "0000591919"
"0000261763" "0000591920"
"0000261763" "0000591921"
"0000261763" "0000591922"
"0000261763" "0000591923"
"0000261763" "0000591924"
"0000261763" "0000591925"
"0000261763" "0000591926"
"0000261763" "0000591927"
"0000261763" "0000591928"
"0000261763" "0000591929"
"0000261763" "0000591930"
"0000261763" "0000591931"
"0000261763" "0000591932"
"0000261763" "0000591933"
"0000261763" "0000591934"
"0000261763" "0000591935"
"0000261763" "0000591936"
"0000261763" "0000591937"
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"0000261763" "0000591939"
"0000261763" "0000591940"
"0000261763" "0000591941"
"0000261763" "0000591942"
"0000261763" "0000591943"
"0000261763" "0000591944"
"0000261763" "0000591945"
"0000261763" "0000591946"
"0000261763" "0000591947"
"0000261763" "0000591948"
"0000261763" "0000591949"
"0000261763" "0000591950"
"0000261763" "0000591951"
"0000261763" "0000591952"
"0000261763" "0000591953"
"0000261763" "0000591954"
"0000261763" "0000591955"
"0000261763" "0000591956"
"0000261763" "0000591957"
"0000261763" "0000591958"
"0000261763" "0000591959"
"0000261763" "0000591960"
"0000261763" "0000591961"
"0000261763" "0000591962"
"0000261763" "0000591963"
"0000261763" "0000591964"
"0000261763" "0000591965"
"0000261763" "0000591966"
"0000261763" "0000591967"
"0000261763" "0000591968"
"0000261763" "0000591969"
"0000261763" "0000591970"
"0000261763" "0000591971"
"0000261763" "0000591972"
"0000261763" "0000591973"
"0000261763" "0000591974"
"0000261763" "0000591975"
"0000261763" "0000591976"
"0000261763" "0000591977"
"0000261763" "0000591978"
"0000261763" "0000591980"
"0000261763" "0000591981"
"0000261763" "0000591983"
"0000261764" "0000591814"
"0000261765" "0000591815"
"0000261766" "0000591816"
"0000261767" "0000591812"
"0000261768" "0000591817"
"0000261769" "0000591818"
"0000261770" "0000591819"
"0000261771" "0000591820"
"0000261772" "0000591821"
"0000261773" "0000591822"
"0000261774" "0000591823"
"0000261775" "0000591824"
"0000261776" "0000591811"
"0000261777" "0000591825"
"0000261778" "0000591826"
"0000261779" "0000591827"
"0000261780" "0000591858"
"0000261781" "0000591828"
"0000261782" "0000591829"
"0000261783" "0000591809"
"0000261784" "0000591830"
"0000261785" "0000591831"
"0000261786" "0000591832"
"0000261787" "0000591833"
"0000261788" "0000591834"
"0000261789" "0000591835"
"0000261790" "0000591836"
"0000261791" "0000591837"
"0000261792" "0000591838"
"0000261793" "0000591805"
"0000261794" "0000591802"
"0000261795" "0000591839"
"0000261796" "0000591840"
"0000261797" "0000591841"
"0000261798" "0000591842"
"0000261799" "0000591843"
"0000261800" "0000591844"
"0000261801" "0000591845"
"0000261802" "0000591810"
"0000261803" "0000591846"
"0000261804" "0000591807"
"0000261805" "0000591847"
"0000261806" "0000591848"
"0000261807" "0000591813"
"0000261808" "0000591849"
"0000261809" "0000591850"
"0000261810" "0000591859"
"0000261811" "0000591851"
"0000261812" "0000591982"
"0000261813" "0000591853"
"0000261814" "0000591854"
"0000261815" "0000591585"
"0000261816" "0000591586"
"0000261817" "0000591590"
"0000261818" "0000591596"
"0000261819" "0000591619"
"0000261819" "0000591656"
"0000261820" "0000591620"
"0000261821" "0000591621"
"0000261822" "0000591622"
"0000261822" "0000591654"
"0000261823" "0000591624"
"0000261823" "0000591748"
"0000261824" "0000591626"
"0000261825" "0000591630"
"0000261826" "0000591641"
"0000261827" "0000591643"
"0000261828" "0000591646"
"0000261828" "0000591769"
"0000261829" "0000591649"
"0000261830" "0000591650"
"0000261831" "0000591651"
"0000261832" "0000591652"
"0000261833" "0000591653"
"0000261834" "0000591657"
"0000261835" "0000591664"
"0000261836" "0000591665"
"0000261837" "0000591670"
"0000261838" "0000591673"
"0000261839" "0000591674"
"0000261840" "0000591675"
"0000261841" "0000591676"
"0000261842" "0000591677"
"0000261843" "0000591678"
"0000261844" "0000591679"
"0000261845" "0000591682"
"0000261846" "0000591687"
"0000261847" "0000591689"
"0000261848" "0000591690"
"0000261849" "0000591694"
"0000261849" "0000591745"
"0000261850" "0000591695"
"0000261851" "0000591696"
"0000261852" "0000591714"
"0000261853" "0000591716"
"0000261854" "0000591731"
"0000261855" "0000591732"
"0000261856" "0000591733"
"0000261857" "0000591734"
"0000261858" "0000591735"
"0000261858" "0000591770"
"0000261859" "0000591746"
"0000261860" "0000591747"
"0000261861" "0000591751"
"0000261862" "0000591771"
"0000261863" "0000591778"
"0000261864" "0000591783"
"0000261865" "0000591852"
"0000261866" "0000591904"
"0000261867" "0000591979"
"0000295159" "0000651848"
"0000325359" "0000708349"
"0000325360" "0000708350"
"0000325360" "0000708351"
"0000325361" "0000708352"
"0000325362" "0000708353"
"0000325362" "0000708354"
"0000325363" "0000708355"
"0000325363" "0000708356"
"0000325364" "0000708357"
"0000325365" "0000708358"
"0000325366" "0000708359"
"0000325366" "0000708360"
"0000325367" "0000708361"
"0000325368" "0000708362"
"0000325369" "0000708363"
"0000336248" "0000735445"