### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STAT1) # 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}}" "STAT1" "signal transducer and activator of transcription 1, 91kDa" "2" "q32.2-q32.3" "unknown" "LRG_111" "UD_132118692589" "" "https://www.LOVD.nl/STAT1" "STAT1base " "1" "11362" "6772" "600555" "1" "1" "1" "1" "We gratefully acknowledge the efforts of Esther van de Vosse, curating this database until 2020. \r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/STAT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2024-01-12 19:30:00" "00000" "2025-02-07 18:57:27" ## 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}}" "00020436" "STAT1" "transcript variant alpha" "001" "NM_007315.3" "" "NP_009330.1" "" "" "" "-388" "3920" "2253" "191878976" "191833762" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03438" "IMD31B" "immunodeficiency, type 31B, mycobacterial and viral infections, autosomal recessive (IMD-31B)" "AR" "613796" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03566" "IMD31C;CANDF7" "immunodeficiency, type 31C, autosomal dominant (IMD-31C, candidiasis, familial, type 7 (CANDF-7))" "AD" "614162" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04677" "IMD31A" "immunodeficiency, type 31A, mycobacteriosis, autosomal dominant (IMD-31A)" "AD" "614892" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "STAT1" "03438" "STAT1" "03566" "STAT1" "04677" ## Individuals ## Do not remove or alter this header ## ## Count = 122 "{{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}}" "00080572" "" "" "" "1" "" "00006" "{PMID 11452125:Dupuis 2001}" "autosomal dominant, partial STAT1 defectalso son reported later as asymptomatic: 16934001-Pat_C.III.2" "F" "" "France" "" "0" "" "" "" "" "00080573" "" "" "" "1" "" "00006" "{PMID 11452125:Dupuis 2001}" "family, 1 affected" "F" "" "United States" "" "0" "" "" "" "" "00080574" "" "" "" "1" "" "01723" "{PMID:Dupuis 2003:12590259}" "family, 1 affected" "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00080575" "" "" "" "1" "" "01723" "{PMID:Dupuis 2003:12590259}" "family, 1 affected" "F" "" "Saudi Arabia" "" "0" "" "" "" "" "00080576" "" "" "" "1" "" "01723" "{PMID:Chapgier 2006a:16585605}" "family, 1 affected" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00080577" "" "" "" "3" "" "00006" "{PMID16934001:Chapgier 2006b}" "family, 3 affecteds" "F" "" "Germany" "" "0" "" "" "" "" "00080578" "" "" "" "1" "" "00006" "{PMID:Chapgier 2006b:16934001}" "family, 1 affected, 2 asymptomatic" "M" "no" "Germany" "" "0" "" "" "" "" "00080579" "" "" "" "2" "" "01723" "{PMID:Chapgier 2009:19436109}" "family, 2 affecteds" "M" "yes" "Israel" "" "0" "" "" "" "" "00080580" "" "" "" "4" "" "00006" "{PMID:van de Veerdonk 2011:21714643}" "family, 4 affecteds; one family member later reported: 22195034_Fam1P4" "M" "" "Netherlands" "" "0" "" "" "" "" "00080581" "" "" "" "5" "" "00006" "{PMID:van de Veerdonk 2011:21714643}" "family, 5 affecteds" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080582" "" "" "" "3" "" "00006" "{PMID:van de Veerdonk 2011:21714643}" "family, 3 affecteds" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080583" "" "" "" "3" "" "00006" "{PMID21714643:van de Veerdonk 2011} (PMID26255980:Zheng 2015}" "family, 3 affecteds; 2 more patients from this family in Zheng et al 2015" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080584" "" "" "" "2" "" "00006" "{PMID:van de Veerdonk 2011:21714643}" "family, 2 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00080585" "" "" "" "2" "" "01723" "{PMID:Kong 2010:20841510}" "family, 2 affecteds" "M" "" "Saudi Arabia" "" "0" "" "" "" "" "00080586" "" "" "" "1" "" "00006" "{PMID21057861:Kristensen 2011}" "family, 1 affected" "F" "" "(Denmark)" "" "0" "" "" "" "" "00080587" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 2 affecteds, 1 no genetics" "" "" "Israel" "" "0" "" "" "" "" "00080588" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 6 affecteds, 4 no genetics" "" "" "France" "" "0" "" "" "" "" "00080589" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 2 affecteds" "" "" "Turkey" "" "0" "" "" "" "" "00080590" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 2 affecteds" "" "" "Japan" "" "0" "" "" "" "" "00080591" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 2 affecteds" "" "" "France" "" "0" "" "" "" "" "00080592" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 4 affecteds, 2 no genetics" "" "" "France" "" "0" "" "" "" "" "00080593" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family with 3 members affected, 1 no genetics" "" "" "France" "" "0" "" "" "" "" "00080594" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected, 1 no genetics" "M" "" "France" "" "0" "" "" "" "" "00080595" "" "" "" "6" "" "00006" "{PMID:Liu 2011:21727188}" "family with 7 members affected, 1 no genetics" "" "" "Germany" "" "0" "" "" "" "" "00080596" "" "" "" "3" "" "00006" "{PMID:Liu 2011:21727188}" "family, 3 affecteds" "" "" "Argentina" "" "0" "" "" "" "" "00080597" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected" "F" "" "Germany" "" "0" "" "" "" "" "00080598" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected" "F" "" "France" "" "0" "" "" "" "" "00080599" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}, {PMID:Soltesz 2013:23709754}" "family, 1 affected" "M" "" "Ukraine" "" "0" "" "" "" "" "00080600" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected" "F" "" "Mexico" "" "0" "" "" "" "" "00080601" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 2 affecteds" "" "" "Switzerland" "" "0" "" "" "" "" "00080602" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected" "M" "" "Switzerland" "" "0" "" "" "" "" "00080603" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected" "F" "" "Germany" "" "0" "" "" "" "" "00080604" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected" "M" "" "Germany" "" "0" "" "" "" "" "00080605" "" "" "" "2" "" "00006" "{PMID:Liu 2011:21727188}" "family, 3 affecteds, 1 no genetics" "" "" "France" "" "0" "" "" "" "" "00080606" "" "" "" "1" "" "00006" "{PMID:Liu 2011:21727188}" "family, 1 affected" "F" "" "Germany" "" "0" "" "" "" "" "00080607" "" "" "" "3" "" "01723" "{PMID:Smeekens 2011:22195034}" "family, 3 affecteds" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080608" "" "" "" "3" "" "01723" "{PMID:Smeekens 2011:22195034}" "family, 3 affecteds" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080609" "" "" "" "1" "" "01723" "{PMID:Vairo 2011:21772053}" "family, 1 affected" "M" "yes" "Pakistan" "" "0" "" "" "" "" "00080610" "" "" "" "1" "" "01723" "{PMID:Takezaki 2012:22730530}" "family, 1 affected" "M" "no" "Japan" "" "0" "" "" "" "" "00080611" "" "" "" "1" "" "01723" "{PMID:Takezaki 2012:22730530}" "family, 1 affected" "M" "no" "Japan" "" "0" "" "" "" "" "00080612" "" "" "" "2" "" "01723" "{PMID:de Jong 1998:9603733}" "family, 2 affected, 1 asymptomatic" "M" "no" "Japan" "" "0" "" "" "" "" "00080613" "" "" "" "1" "" "01723" "{PMID:Tsumura 2012:22573496}" "family, 1 affected" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00080614" "" "" "" "1" "" "01723" "{PMID:Sampaio 2012:22437822}" "family, 1 affected" "M" "no" "(United States)" "" "0" "" "" "" "" "00080615" "" "" "" "2" "" "01723" "{PMID:Hori 2012:22847544}" "family, 2 affecteds" "F" "?" "(Japan)" "" "0" "" "" "" "" "00080616" "" "" "" "2" "" "01723" "{PMID:Averbuch 2011:20962705}, {PMID:Shamriz 2013:24569307}" "family, 2 affecteds" "M" "yes" "Israel" "" "0" "" "" "islamic" "" "00080617" "" "" "" "2" "" "01723" "{PMID:Hirata 2013:23585529}" "family, 2 affecteds" "M" "no" "Japan" "" "0" "" "" "" "" "00080618" "" "" "" "1" "" "01723" "{PMID:Wang 2012:23245795}" "family, 1 affected" "F" "no" "China" "" "0" "" "" "Han Chinese" "" "00080619" "" "" "" "1" "" "01723" "{PMID:Sampaio 2013:23541320}" "family, 1 affected" "F" "?" "United States" "" "0" "" "" "Hispanic" "" "00080620" "" "" "" "1" "" "01723" "{PMID:Sampaio 2013:23541320}" "family, 1 affected" "F" "?" "United States" "" "0" "" "" "white" "" "00080621" "" "" "" "1" "" "01723" "{PMID:Sampaio 2013:23541320}" "family, 1 affected" "M" "?" "(United States)" "" "0" "" "" "white" "" "00080622" "" "" "" "1" "" "01723" "{PMID:Sampaio 2013:23541320}" "family, 1 affected" "M" "?" "(United States)" "" "0" "" "" "" "" "00080623" "" "" "" "1" "" "01723" "{PMID:Sampaio 2013:23541320}" "family, 1 affected" "F" "no" "(United States)" "" "0" "" "" "" "" "00080624" "" "" "" "3" "" "01723" "{PMID:Al Rushood 2013:23541088}" "family, 3 affecteds" "M" "?" "(Canada)" "" "0" "" "" "" "" "00080625" "" "" "" "1" "" "01723" "{PMID:Aldave 2013:24105462}" "family, 1 affected" "F" "no" "Peru" "" "0" "" "" "Mestizo" "" "00080626" "" "" "" "1" "" "01723" "{PMID:Soltesz 2013:23709754}" "family, 1 affected" "F" "?" "Czech Republic" "" "0" "" "" "" "" "00080627" "" "" "" "2" "" "01723" "{PMID:Soltesz 2013:23709754}" "family, 2 affecteds" "F" "?" "Czech Republic" "" "0" "" "" "" "" "00080628" "" "" "" "2" "" "01723" "{PMID:Liu 2011:21727188}, {PMID:Soltesz 2013:23709754}" "family, 2 affecteds" "F" "?" "Hungary" "" "0" "" "" "" "" "00080629" "" "" "" "1" "" "01723" "{PMID:Soltesz 2013:23709754}" "family, 1 affected" "F" "?" "Russian Federation" "" "0" "" "" "" "" "00080630" "" "" "" "1" "" "01723" "{PMID:Soltesz 2013:23709754}" "family, 1 affected" "F" "?" "Russian Federation" "" "0" "" "" "" "" "00080631" "" "" "" "1" "" "01723" "{PMID:Soltesz 2013:23709754}" "family, 1 affected" "M" "?" "Ukraine" "" "0" "" "" "" "" "00080632" "" "" "" "1" "" "01723" "{PMID:Sharfe 2014:24239102}" "autosomal dominant or haploinsufficiency? STAT1 defect" "M" "no" "(Canada)" "" "0" "" "" "English" "" "00080633" "" "" "" "1" "" "01723" "{PMID:Sharfe 2014:24239102}" "autosomal dominant or haploinsufficiency? STAT1 defect" "F" "no" "(Canada)" "" "0" "" "" "English descent" "" "00080634" "" "" "" "1" "" "01723" "{PMID:Sharfe 2014:24239102}" "autosomal dominant or haploinsufficiency? STAT1 defect" "M" "no" "(Canada)" "" "0" "" "" "English descent" "" "00080635" "" "" "" "1" "" "01723" "{PMID:Sharfe 2014:24239102}" "autosomal dominant or haploinsufficiency? STAT1 defect" "F" "no" "(Canada)" "" "0" "" "" "Iranian descent" "" "00080636" "" "" "" "1" "" "01723" "{PMID:Sharfe 2014:24239102}" "autosomal dominant or haploinsufficiency? STAT1 defect" "M" "no" "(Canada)" "" "0" "" "" "" "" "00080637" "" "" "" "4" "" "01723" "{PMID:Romberg 2013:23403048}" "family, 4 affecteds" "F" "no" "United States" "" "0" "" "" "" "" "00080638" "" "" "" "1" "" "01723" "{PMID:Kumar 2014:24709374}" "family, 1 affected" "M" "no" "(United States)" "" "0" "" "" "mixed Asian/African" "" "00080639" "" "" "" "1" "" "01723" "{PMID:Tanimura 2015:26080282}" "family, 1 affected" "M" "?" "Japan" "" "0" "" "" "" "" "00080640" "" "" "" "2" "" "01723" "{PMID:Kataoka 2015:26242301}" "family, 2 affecteds" "M" "no" "Japan" "" "0" "" "" "" "" "00080641" "" "" "" "1" "" "01723" "{PMID:Zheng 2015:26255980}" "family, 1 affected" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080642" "" "" "" "1" "" "01723" "{PMID:Zheng 2015:26255980}" "family, 1 affected" "M" "?" "Netherlands" "" "0" "" "" "" "" "00080643" "" "" "" "1" "" "01723" "{PMID:Giardino 2016:26467763}" "family, 1 affected" "M" "no" "Italy" "" "0" "" "" "" "" "00080644" "" "" "" "3" "" "01723" "{PMID:Martinez-Martinez 2015:26514428}" "family, 3 affecteds" "M" "?" "Spain" "" "0" "" "" "" "" "00080645" "" "" "" "1" "" "01723" "{PMID:Nielsen 2015:26494717}" "family, 1 affected" "F" "?" "Denmark" "" "0" "" "" "" "" "00080646" "" "" "" "1" "" "01723" "{PMID:Zerbe 2016:26743090}" "family, 1 affected" "F" "?" "United States" "" "0" "" "" "African American" "" "00080647" "" "" "" "1" "" "01723" "{PMID:Zerbe 2016:26743090}" "family, 1 affected" "M" "?" "United States" "" "0" "" "" "" "" "00080648" "" "" "" "1" "" "01723" "{PMID:Zerbe 2016:26743090}" "family, 1 affected" "M" "?" "United States" "" "0" "" "" "Hispanic" "" "00080649" "" "" "" "5" "" "01723" "{PMID:Dhalla 2015:26621323}" "family, 5 affecteds" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080650" "" "" "" "2" "" "01723" "{PMID:Kilic 2014:25367169}" "family, 2 affecteds" "M" "no" "Turkey" "" "0" "" "" "" "" "00080651" "" "" "" "1" "" "01723" "{PMID:Yamazaki 2014:25288569}" "family, 1 affected" "F" "no" "Japan" "" "0" "" "" "" "" "00080652" "" "" "" "2" "" "01723" "{PMID:Yamazaki 2014:25288569}" "family, 2 affecteds" "F" "?" "Japan" "" "0" "" "" "" "" "00080653" "" "" "" "2" "" "01723" "{PMID:Mizoguchi 2014:24343863}" "family, 2 affecteds" "M" "?" "Japan" "" "0" "" "" "" "" "00080654" "" "" "" "1" "" "01723" "{PMID:Mizoguchi 2014:24343863}" "family, 1 affected" "M" "?" "Japan" "" "0" "" "" "" "" "00080655" "" "" "" "2" "" "01723" "{PMID:Mizoguchi 2014:24343863}" "family, 2 affecteds" "M" "?" "Japan" "" "0" "" "" "" "" "00080656" "" "" "" "2" "" "01723" "{PMID:Mizoguchi 2014:24343863}" "family, 2 affecteds" "F" "?" "Japan" "" "0" "" "" "" "" "00080657" "" "" "" "1" "" "01723" "{PMID:Mizoguchi 2014:24343863}" "family, 1 affected" "M" "?" "Japan" "" "0" "" "" "" "" "00080658" "" "" "" "1" "" "01723" "{PMID:Uzel 2013:23534974}" "family, 1 affected" "M" "?" "United States" "" "0" "" "" "Hispanic" "" "00080659" "" "" "" "1" "" "01723" "{PMID:Uzel 2013:23534974}" "family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" "" "00080660" "" "" "" "1" "" "01723" "{PMID:Uzel 2013:23534974}" "family, 1 affected" "F" "?" "(United States)" "" "0" "" "" "Korean" "" "00080661" "" "" "" "1" "" "01723" "{PMID:Uzel 2013:23534974}" "family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" "" "00080662" "" "" "" "1" "" "01723" "{PMID:Uzel 2013:23534974}" "family, 1 affected" "M" "?" "United States" "" "0" "" "" "white" "" "00080663" "" "" "" "1" "" "01723" "{PMID:Mekki 2014:24335902}" "family, 1 affected" "F" "yes" "Tunisia" "" "0" "" "" "" "" "00080664" "" "" "" "1" "" "01723" "{PMID:Sobh 2016:26948078}" "family, 1 affected" "F" "no" "(United States)" "" "0" "" "" "" "" "00080665" "" "" "" "1" "" "01723" "{PMID:Lee 2014:24188975}" "family, 1 affected" "M" "?" "China" "" "0" "" "" "" "" "00080666" "" "" "" "1" "" "01723" "{PMID:Lee 2014:24188975}" "family, 1 affected" "F" "?" "China" "" "0" "" "" "" "" "00080667" "" "" "" "1" "" "01723" "{PMID:Lee 2014:24188975}" "family, 1 affected" "F" "?" "China" "" "0" "" "" "" "" "00080668" "" "" "" "1" "" "01723" "{PMID:Frans 2014:25042743}" "family, 1 affected" "M" "no" "Belgium" "" "0" "" "" "" "" "00080669" "" "" "" "1" "" "01723" "{PMID:Wildbaum 2013:23791509}" "family, 1 affected" "F" "?" "Israel" "" "0" "" "" "" "" "00080670" "" "" "" "1" "" "01723" "{PMID:Mossner 2016:26787170}" "family, 1 affected" "M" "?" "(Germany)" "" "0" "" "" "Tunisian-German" "" "00080671" "" "" "" "1" "" "01723" "{PMID:Higgins 2015:25662309}" "family, 1 affected" "F" "?" "(Ireland)" "" "0" "" "" "" "" "00080672" "" "" "" "1" "" "01723" "{PMID:Kobbe 2016:27063510}" "family, 1 affected" "M" "no" "Germany" "" "0" "" "" "" "" "00080673" "" "" "" "2" "" "01723" "{PMID:Depner 2016:26604104}" "family, 2 affecteds" "" "?" "Brazil" "" "0" "" "" "" "" "00080674" "" "" "" "4" "" "01723" "{PMID:Depner 2016:26604104}" "family, 4 affecteds" "" "?" "United States" "" "0" "" "" "not specified" "" "00080675" "" "" "" "3" "" "01723" "{PMID:Depner 2016:26604104}" "family, 3 affecteds" "" "?" "Norway" "" "0" "" "" "" "" "00080676" "" "" "" "3" "" "01723" "{PMID:Depner 2016:26604104}" "family, 3 affecteds" "" "?" "Norway" "" "0" "" "" "" "" "00080677" "" "" "" "3" "" "01723" "{PMID:Depner 2016:26604104}" "family, 3 affecteds" "" "?" "Germany" "" "0" "" "" "" "" "00080678" "" "" "" "4" "" "01723" "{PMID:Depner 2016:26604104}" "family, 4 affecteds" "" "?" "Germany" "" "0" "" "" "" "" "00080679" "" "" "" "2" "" "01723" "{PMID:Depner 2016:26604104}" "family, 2 affecteds" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "" "00080680" "" "" "" "2" "" "01723" "{PMID:Depner 2016:26604104}" "family, 2 affecteds" "" "" "Germany" "" "0" "" "" "" "" "00080681" "" "" "" "3" "" "01723" "{PMID:Depner 2016:26604104}" "family, 3 affecteds" "" "" "Canada" "" "0" "" "" "" "" "00080682" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080683" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "Belgium" "" "0" "" "" "" "" "00080684" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "Brazil" "" "0" "" "" "" "" "00080685" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "Colombia" "" "0" "" "" "" "" "00080686" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "Germany" "" "0" "" "" "" "" "00080687" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "Belgium" "" "0" "" "" "" "" "00080688" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00080689" "" "" "" "1" "" "01723" "{PMID:Depner 2016:26604104}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "" "00433066" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "4y" "0" "" "" "" "Pat37,1" "00433077" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "United States" "" "0" "" "" "Europe" "Pat50,1" "00433085" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat61,1" "00433086" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "F" "" "Norway" "" "0" "" "" "" "Pat62,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 122 "{{individualid}}" "{{diseaseid}}" "00080572" "04677" "00080573" "04677" "00080574" "03438" "00080575" "03438" "00080576" "03438" "00080577" "04677" "00080578" "04677" "00080579" "03438" "00080580" "03566" "00080581" "03566" "00080582" "03566" "00080583" "03566" "00080584" "03566" "00080585" "03438" "00080586" "03438" "00080587" "03566" "00080588" "03566" "00080589" "03566" "00080590" "03566" "00080591" "03566" "00080592" "03566" "00080593" "03566" "00080594" "03566" "00080595" "03566" "00080596" "03566" "00080597" "03566" "00080598" "03566" "00080599" "03566" "00080600" "03566" "00080601" "03566" "00080602" "03566" "00080603" "03566" "00080604" "03566" "00080605" "03566" "00080606" "03566" "00080607" "03566" "00080608" "03566" "00080609" "03438" "00080610" "03566" "00080611" "03566" "00080612" "04677" "00080613" "04677" "00080614" "04677" "00080615" "03566" "00080616" "03438" "00080617" "04677" "00080618" "03566" "00080619" "00198" "00080620" "00198" "00080621" "00198" "00080622" "00198" "00080623" "00198" "00080624" "03566" "00080625" "03566" "00080626" "03566" "00080627" "03566" "00080628" "03566" "00080629" "03566" "00080630" "03566" "00080631" "03566" "00080632" "00198" "00080633" "00198" "00080634" "00198" "00080635" "00198" "00080636" "00198" "00080637" "03566" "00080638" "03566" "00080639" "03566" "00080640" "03566" "00080641" "03566" "00080642" "03566" "00080643" "03566" "00080644" "03566" "00080645" "03566" "00080646" "03566" "00080647" "03566" "00080648" "03566" "00080649" "03566" "00080650" "03566" "00080651" "03566" "00080652" "03566" "00080653" "03566" "00080654" "03566" "00080655" "03566" "00080656" "03566" "00080657" "03566" "00080658" "03566" "00080659" "03566" "00080660" "03566" "00080661" "03566" "00080662" "03566" "00080663" "03566" "00080664" "03566" "00080665" "03566" "00080666" "03566" "00080667" "03566" "00080668" "03566" "00080669" "03566" "00080670" "03566" "00080671" "03566" "00080672" "03566" "00080673" "03566" "00080674" "03566" "00080675" "03566" "00080676" "03566" "00080677" "03566" "00080678" "03566" "00080679" "03566" "00080680" "03566" "00080681" "03566" "00080682" "03566" "00080683" "03566" "00080684" "03566" "00080685" "03566" "00080686" "03566" "00080687" "03566" "00080688" "03566" "00080689" "03566" "00433066" "05292" "00433077" "05292" "00433085" "05292" "00433086" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03438, 03566, 04677, 05292 ## Count = 122 "{{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}}" "0000060136" "04677" "00080572" "00006" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060137" "04677" "00080573" "00006" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060138" "03438" "00080574" "01723" "Familial, autosomal recessive" "" "mycobacteriosis & viral infections" "" "" "" "" "" "" "" "" "" "" "" "0000060139" "03438" "00080575" "01723" "Familial, autosomal recessive" "" "mycobacteriosis & viral infection" "" "" "" "" "" "" "" "" "" "" "" "0000060140" "03438" "00080576" "01723" "Familial, autosomal recessive" "" "mycobacteriosis & viral infection" "" "" "" "" "" "" "" "" "" "" "" "0000060141" "04677" "00080577" "00006" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060142" "04677" "00080578" "00006" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060143" "03438" "00080579" "01723" "Familial, autosomal recessive" "" "mycobacteriosis & viral infection" "" "" "" "" "" "" "" "" "" "" "" "0000060144" "03566" "00080580" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060145" "03566" "00080581" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060146" "03566" "00080582" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060147" "03566" "00080583" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060148" "03566" "00080584" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060149" "03438" "00080585" "01723" "Familial, autosomal recessive" "" "mycobacteriosis & viral infections" "" "" "" "" "" "" "" "" "" "" "" "0000060150" "03438" "00080586" "00006" "Familial, autosomal recessive" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060151" "03566" "00080587" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060152" "03566" "00080588" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060153" "03566" "00080589" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060154" "03566" "00080590" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060155" "03566" "00080591" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060156" "03566" "00080592" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060157" "03566" "00080593" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060158" "03566" "00080594" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060159" "03566" "00080595" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060160" "03566" "00080596" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060161" "03566" "00080597" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060162" "03566" "00080598" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060163" "03566" "00080599" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060164" "03566" "00080600" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060165" "03566" "00080601" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060166" "03566" "00080602" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060167" "03566" "00080603" "00006" "Familial, autosomal dominant" "" "Chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060168" "03566" "00080604" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060169" "03566" "00080605" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060170" "03566" "00080606" "00006" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060171" "03566" "00080607" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060172" "03566" "00080608" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060173" "03438" "00080609" "01723" "Familial, autosomal recessive" "" "Mycobacteriosis, viral infection & Aspergillus fumigatus" "" "" "" "" "" "" "" "" "" "" "" "0000060174" "03566" "00080610" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060175" "03566" "00080611" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060176" "04677" "00080612" "01723" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060177" "04677" "00080613" "01723" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060178" "04677" "00080614" "01723" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060179" "03566" "00080615" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060180" "03438" "00080616" "01723" "Familial, autosomal recessive" "" "mycobacteriosis & viral infections & more" "" "" "" "" "" "" "" "" "" "" "" "0000060181" "04677" "00080617" "01723" "Familial, autosomal dominant" "" "mycobacteriosis" "" "" "" "" "" "" "" "" "" "" "" "0000060182" "03566" "00080618" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060183" "00198" "00080619" "01723" "Familial, autosomal dominant" "" "IMD-31C like; chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060184" "00198" "00080620" "01723" "Familial, autosomal dominant" "" "IMD-31C like; chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060185" "00198" "00080621" "01723" "Familial, autosomal dominant" "" "IMD-31C like; chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060186" "00198" "00080622" "01723" "Familial, autosomal dominant" "" "IMD-31C like; chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060187" "00198" "00080623" "01723" "Familial, autosomal dominant" "" "IMD-31C like; chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060188" "03566" "00080624" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060189" "03566" "00080625" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060190" "03566" "00080626" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060191" "03566" "00080627" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060192" "03566" "00080628" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)also: herpes" "" "" "" "" "" "" "" "" "" "" "" "0000060193" "03566" "00080629" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060194" "03566" "00080630" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060195" "03566" "00080631" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060196" "00198" "00080632" "01723" "Isolated (sporadic)" "" "IMD-31C?; chronic mucocutaneous candidiasis (CMC), also bacterial infections" "" "" "" "" "" "" "" "" "" "" "" "0000060197" "00198" "00080633" "01723" "Isolated (sporadic)" "" "IMD-31C like; chronic mucocutaneous candidiasis (CMC), also viral and bacterial infections" "" "" "" "" "" "" "" "" "" "" "" "0000060198" "00198" "00080634" "01723" "Isolated (sporadic)" "" "IMD-31C?; various viral and bacterial infections" "" "" "" "" "" "" "" "" "" "" "" "0000060199" "00198" "00080635" "01723" "Isolated (sporadic)" "" "IMD-31A?; mycobacteriosis, other bacterial and viral infections" "" "" "" "" "" "" "" "" "" "" "" "0000060200" "00198" "00080636" "01723" "Isolated (sporadic)" "" "IMD-31A?; fevers, skin boils, diarrhea, autoimmmune" "" "" "" "" "" "" "" "" "" "" "" "0000060201" "03566" "00080637" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060202" "03566" "00080638" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060203" "03566" "00080639" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) and aortic aneurysms" "" "" "" "" "" "" "" "" "" "" "" "0000060204" "03566" "00080640" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC), severe Tuberculosis" "" "" "" "" "" "" "" "" "" "" "" "0000060205" "03566" "00080641" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060206" "03566" "00080642" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060207" "03566" "00080643" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060208" "03566" "00080644" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060209" "03566" "00080645" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060210" "03566" "00080646" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML)" "" "" "" "" "" "" "" "" "" "" "" "0000060211" "03566" "00080647" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML)" "" "" "" "" "" "" "" "" "" "" "" "0000060212" "03566" "00080648" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & Progressive multifocal leukoencephalopathy (PML)" "" "" "" "" "" "" "" "" "" "" "" "0000060213" "03566" "00080649" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060214" "03566" "00080650" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & viral infection" "" "" "" "" "" "" "" "" "" "" "" "0000060215" "03566" "00080651" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060216" "03566" "00080652" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060217" "03566" "00080653" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060218" "03566" "00080654" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060219" "03566" "00080655" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060220" "03566" "00080656" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060221" "03566" "00080657" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060222" "03566" "00080658" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC)& IPEX-like features" "" "" "" "" "" "" "" "" "" "" "" "0000060223" "03566" "00080659" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & IPEX-like features" "" "" "" "" "" "" "" "" "" "" "" "0000060224" "03566" "00080660" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & IPEX-like features" "" "" "" "" "" "" "" "" "" "" "" "0000060225" "03566" "00080661" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & IPEX-like features" "" "" "" "" "" "" "" "" "" "" "" "0000060226" "03566" "00080662" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis (CMC) & IPEX-like features" "" "" "" "" "" "" "" "" "" "" "" "0000060227" "03566" "00080663" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060228" "03566" "00080664" "01723" "Isolated (sporadic)" "" "chronic mucocutaneous candidiasis (CMC)" "" "" "" "" "" "" "" "" "" "" "" "0000060229" "03566" "00080665" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060230" "03566" "00080666" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060231" "03566" "00080667" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060232" "03566" "00080668" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060233" "03566" "00080669" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060234" "03566" "00080670" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060235" "03566" "00080671" "01723" "Familial, autosomal dominant" "" "chronic mucocutaneous candidiasis" "" "" "" "" "" "" "" "" "" "" "" "0000060236" "03566" "00080672" "01723" "Familial, autosomal dominant" "" "CMC and CVID" "" "" "" "" "" "" "" "" "" "" "" "0000060237" "03566" "00080673" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060238" "03566" "00080674" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060239" "03566" "00080675" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060240" "03566" "00080676" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060241" "03566" "00080677" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060242" "03566" "00080678" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060243" "03566" "00080679" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060244" "03566" "00080680" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060245" "03566" "00080681" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060246" "03566" "00080682" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060247" "03566" "00080683" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060248" "03566" "00080684" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060249" "03566" "00080685" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060250" "03566" "00080686" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060251" "03566" "00080687" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060252" "03566" "00080688" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060253" "03566" "00080689" "01723" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323592" "05292" "00433066" "00006" "Unknown" "4y" "combined immunodeficiency (not SCID), selective T cell deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323603" "05292" "00433077" "00006" "Unknown" "13y" "common variable immunodeficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323611" "05292" "00433085" "00006" "Unknown" "4y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000323612" "05292" "00433086" "00006" "Unknown" "12y" "defect in innate immunity including mucocutaneous candidiasis, hyper IgE syndrome, mendelian susceptibility to mycobacterial disease, and complement deficiency" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 122 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080665" "00080572" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-04-07 11:17:50" "SEQ" "DNA" "" "" "0000080666" "00080573" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-04 12:01:43" "SEQ" "DNA" "" "" "0000080667" "00080574" "1" "01723" "01723" "2012-08-14 10:35:55" "01723" "2016-04-07 11:18:18" "SEQ" "DNA" "" "" "0000080668" "00080575" "1" "01723" "01723" "2012-08-14 10:48:59" "01723" "2016-04-07 11:20:02" "SEQ" "DNA" "" "" "0000080669" "00080576" "1" "01723" "01723" "2012-08-14 10:57:47" "01723" "2016-04-07 11:19:03" "SEQ" "RNA" "" "" "0000080670" "00080577" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-04-07 11:12:33" "SEQ" "DNA" "" "" "0000080671" "00080578" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-04-07 11:17:06" "SEQ" "DNA" "" "" "0000080672" "00080579" "1" "01723" "01723" "2012-08-14 11:13:15" "01723" "2016-04-07 11:17:28" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000080673" "00080580" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:53:36" "SEQ" "DNA" "" "" "0000080674" "00080581" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:52:08" "SEQ" "DNA" "" "" "0000080675" "00080582" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:52:08" "SEQ" "DNA" "" "" "0000080676" "00080583" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:53:36" "SEQ" "DNA" "" "" "0000080677" "00080584" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:52:08" "SEQ" "DNA" "" "" "0000080678" "00080585" "1" "01723" "01723" "2012-08-13 17:43:39" "01723" "2016-04-07 11:14:40" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000080679" "00080586" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-04-07 11:15:02" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000080680" "00080587" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:52:08" "SEQ" "DNA" "" "" "0000080681" "00080588" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:55:38" "SEQ" "DNA" "" "" "0000080682" "00080589" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:56:06" "SEQ" "DNA" "" "" "0000080683" "00080590" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:56:33" "SEQ" "DNA" "" "" "0000080684" "00080591" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:57:04" "SEQ" "DNA" "" "" "0000080685" "00080592" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:57:47" "SEQ" "DNA" "" "" "0000080686" "00080593" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:52:56" "SEQ" "DNA" "" "" "0000080687" "00080594" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:53:26" "SEQ" "DNA" "" "" "0000080688" "00080595" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:42:25" "SEQ" "DNA" "" "" "0000080689" "00080596" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:53:36" "SEQ" "DNA" "" "" "0000080690" "00080597" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:53:36" "SEQ" "DNA" "" "" "0000080691" "00080598" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2013-10-23 10:53:36" "SEQ" "DNA" "" "" "0000080692" "00080599" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:41:15" "SEQ" "DNA" "" "" "0000080693" "00080600" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:58:23" "SEQ" "DNA" "" "" "0000080694" "00080601" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:58:50" "SEQ" "DNA" "" "" "0000080695" "00080602" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:41:56" "SEQ" "DNA" "" "" "0000080696" "00080603" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:40:48" "SEQ" "DNA" "" "" "0000080697" "00080604" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:51:55" "SEQ" "DNA" "" "" "0000080698" "00080605" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:51:11" "SEQ" "DNA" "" "" "0000080699" "00080606" "1" "00006" "00006" "2012-08-13 16:50:19" "01723" "2016-03-08 14:54:19" "SEQ" "DNA" "" "" "0000080700" "00080607" "1" "01723" "01723" "2012-08-13 16:50:19" "01723" "2013-10-23 10:53:36" "SEQ" "DNA" "" "" "0000080701" "00080608" "1" "01723" "01723" "2012-08-13 16:50:19" "01723" "2013-10-23 10:53:36" "SEQ" "DNA" "" "" "0000080702" "00080609" "1" "01723" "01723" "2012-08-13 17:27:27" "01723" "2016-04-07 11:14:13" "SEQ" "DNA" "" "" "0000080703" "00080610" "1" "01723" "01723" "2012-08-14 12:40:58" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080704" "00080611" "1" "01723" "01723" "2012-08-14 12:49:11" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080705" "00080612" "1" "01723" "01723" "2012-08-14 13:02:01" "01723" "2016-04-07 11:21:27" "SEQ" "DNA" "" "" "0000080706" "00080613" "1" "01723" "01723" "2012-08-14 13:08:32" "01723" "2016-04-07 11:16:35" "SEQ" "DNA" "" "" "0000080707" "00080614" "1" "01723" "01723" "2012-08-14 13:23:09" "01723" "2016-04-07 11:18:41" "SEQ" "DNA" "" "" "0000080708" "00080615" "1" "01723" "01723" "2012-08-14 13:38:00" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080709" "00080616" "1" "01723" "01723" "2013-10-02 15:42:02" "01723" "2016-04-13 17:15:30" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000080710" "00080617" "1" "01723" "01723" "2013-10-02 15:52:21" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080711" "00080618" "1" "01723" "01723" "2013-10-02 16:02:09" "01723" "2016-03-07 11:48:38" "SEQ-NG-I" "DNA" "" "" "0000080712" "00080619" "1" "01723" "01723" "2013-10-02 16:18:30" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080713" "00080620" "1" "01723" "01723" "2013-10-02 16:25:44" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080714" "00080621" "1" "01723" "01723" "2013-10-02 16:30:28" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080715" "00080622" "1" "01723" "01723" "2013-10-02 16:35:22" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080716" "00080623" "1" "01723" "01723" "2013-10-02 16:39:45" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080717" "00080624" "1" "01723" "01723" "2013-10-02 16:46:49" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080718" "00080625" "1" "01723" "01723" "2013-11-15 14:11:19" "01723" "2013-11-15 14:23:08" "SEQ" "DNA" "" "" "0000080719" "00080626" "1" "01723" "01723" "2013-11-15 14:41:56" "01723" "2013-11-15 14:48:27" "SEQ" "DNA" "" "" "0000080720" "00080627" "1" "01723" "01723" "2013-11-15 14:53:05" "01723" "2013-11-15 15:02:20" "SEQ" "DNA" "" "" "0000080721" "00080628" "1" "01723" "01723" "2013-11-15 15:05:22" "01723" "2013-11-15 15:59:14" "SEQ" "DNA" "" "" "0000080722" "00080629" "1" "01723" "01723" "2013-11-15 15:14:20" "01723" "2013-11-15 15:23:49" "SEQ" "DNA" "" "" "0000080723" "00080630" "1" "01723" "01723" "2013-11-15 15:27:31" "01723" "2013-11-15 15:33:07" "SEQ" "DNA" "" "" "0000080724" "00080631" "1" "01723" "01723" "2013-11-15 15:36:18" "01723" "2013-11-15 15:43:06" "SEQ-NG-I" "DNA" "" "" "0000080725" "00080632" "1" "01723" "01723" "2016-03-01 17:12:21" "01723" "2016-03-07 11:35:47" "SEQ" "DNA" "" "" "0000080726" "00080633" "1" "01723" "01723" "2016-03-01 17:20:25" "01723" "2016-03-07 11:45:16" "SEQ" "DNA" "" "" "0000080727" "00080634" "1" "01723" "01723" "2016-03-02 09:37:34" "01723" "2016-03-07 11:46:21" "SEQ" "DNA" "" "" "0000080728" "00080635" "1" "01723" "01723" "2016-03-02 10:07:32" "01723" "2016-04-07 11:15:47" "SEQ" "DNA" "" "" "0000080729" "00080636" "1" "01723" "01723" "2016-03-02 10:15:17" "01723" "2016-04-07 11:19:31" "SEQ" "DNA" "" "" "0000080730" "00080637" "1" "01723" "01723" "2016-03-02 11:22:12" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080731" "00080638" "1" "01723" "01723" "2016-03-02 11:39:37" "01723" "2016-03-07 11:48:38" "SEQ" "RNA" "" "" "0000080732" "00080639" "1" "01723" "01723" "2016-03-02 11:57:50" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080733" "00080640" "1" "01723" "01723" "2016-03-02 12:11:07" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080734" "00080641" "1" "01723" "01723" "2016-03-02 13:04:47" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080735" "00080642" "1" "01723" "01723" "2016-03-02 13:13:03" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080736" "00080643" "1" "01723" "01723" "2016-03-02 13:42:56" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080737" "00080644" "1" "01723" "01723" "2016-03-02 14:06:53" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080738" "00080645" "1" "01723" "01723" "2016-03-02 14:31:43" "00006" "2017-07-21 10:14:00" "SEQ" "DNA" "" "" "0000080739" "00080646" "1" "01723" "01723" "2016-03-02 15:16:04" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080740" "00080647" "1" "01723" "01723" "2016-03-02 15:55:24" "00006" "2017-07-21 10:14:00" "arrayCGH" "DNA" "" "" "0000080741" "00080648" "1" "01723" "01723" "2016-03-02 16:06:58" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080742" "00080649" "1" "01723" "01723" "2016-03-02 16:12:26" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080743" "00080650" "1" "01723" "01723" "2016-03-02 16:39:20" "00006" "2017-07-21 10:14:00" "?" "DNA" "" "" "0000080744" "00080651" "1" "01723" "01723" "2016-03-02 16:57:31" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080745" "00080652" "1" "01723" "01723" "2016-03-02 17:04:23" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080746" "00080653" "1" "01723" "01723" "2016-03-03 09:51:17" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080747" "00080654" "1" "01723" "01723" "2016-03-03 09:54:53" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080748" "00080655" "1" "01723" "01723" "2016-03-03 09:57:43" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080749" "00080656" "1" "01723" "01723" "2016-03-03 10:02:47" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080750" "00080657" "1" "01723" "01723" "2016-03-03 10:06:26" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080751" "00080658" "1" "01723" "01723" "2016-03-03 11:05:51" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080752" "00080659" "1" "01723" "01723" "2016-03-03 11:10:42" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080753" "00080660" "1" "01723" "01723" "2016-03-03 11:13:21" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080754" "00080661" "1" "01723" "01723" "2016-03-03 11:16:52" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080755" "00080662" "1" "01723" "01723" "2016-03-03 11:19:10" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080756" "00080663" "1" "01723" "01723" "2016-03-04 11:33:12" "01723" "2016-03-07 11:48:38" "SEQ" "DNA" "" "" "0000080757" "00080664" "1" "01723" "01723" "2016-03-15 09:42:51" "01723" "2016-03-15 09:43:30" "SEQ" "DNA" "" "" "0000080758" "00080665" "1" "01723" "01723" "2016-03-21 14:47:20" "" "" "SEQ" "DNA" "" "" "0000080759" "00080666" "1" "01723" "01723" "2016-03-21 14:52:15" "01723" "2016-03-21 14:54:11" "SEQ" "DNA" "" "" "0000080760" "00080667" "1" "01723" "01723" "2016-03-21 14:57:36" "" "" "SEQ" "DNA" "" "" "0000080761" "00080668" "1" "01723" "01723" "2016-03-21 15:16:58" "" "" "SEQ" "DNA" "" "" "0000080762" "00080669" "1" "01723" "01723" "2016-03-21 15:26:25" "" "" "SEQ" "DNA" "" "" "0000080763" "00080670" "1" "01723" "01723" "2016-03-24 10:20:41" "" "" "SEQ" "DNA" "" "" "0000080764" "00080671" "1" "01723" "01723" "2016-03-24 12:43:21" "01723" "2016-03-24 12:43:29" "SEQ" "DNA" "" "" "0000080765" "00080672" "1" "01723" "01723" "2016-05-02 11:12:52" "" "" "SEQ" "DNA" "" "" "0000080766" "00080673" "1" "01723" "01723" "2016-05-02 11:52:19" "" "" "SEQ" "DNA" "" "" "0000080767" "00080674" "1" "01723" "01723" "2016-05-02 12:04:18" "" "" "SEQ" "DNA" "" "" "0000080768" "00080675" "1" "01723" "01723" "2016-05-02 12:53:28" "" "" "SEQ" "DNA" "" "" "0000080769" "00080676" "1" "01723" "01723" "2016-05-02 12:57:59" "" "" "SEQ" "DNA" "" "" "0000080770" "00080677" "1" "01723" "01723" "2016-05-02 13:01:46" "" "" "SEQ" "DNA" "" "" "0000080771" "00080678" "1" "01723" "01723" "2016-05-02 13:15:51" "" "" "SEQ" "DNA" "" "" "0000080772" "00080679" "1" "01723" "01723" "2016-05-02 13:25:48" "01723" "2016-05-02 15:20:20" "SEQ" "DNA" "" "" "0000080773" "00080680" "1" "01723" "01723" "2016-05-02 13:29:39" "" "" "SEQ" "DNA" "" "" "0000080774" "00080681" "1" "01723" "01723" "2016-05-02 13:39:40" "" "" "SEQ" "DNA" "" "" "0000080775" "00080682" "1" "01723" "01723" "2016-05-02 13:49:09" "01723" "2016-05-02 15:19:55" "SEQ" "DNA" "" "" "0000080776" "00080683" "1" "01723" "01723" "2016-05-02 13:52:28" "" "" "SEQ" "DNA" "" "" "0000080777" "00080684" "1" "01723" "01723" "2016-05-02 13:55:49" "" "" "SEQ" "DNA" "" "" "0000080778" "00080685" "1" "01723" "01723" "2016-05-02 13:58:33" "" "" "SEQ" "DNA" "" "" "0000080779" "00080686" "1" "01723" "01723" "2016-05-02 14:00:40" "" "" "SEQ" "DNA" "" "" "0000080780" "00080687" "1" "01723" "01723" "2016-05-02 14:06:12" "01723" "2016-05-02 15:21:35" "SEQ" "DNA" "" "" "0000080781" "00080688" "1" "01723" "01723" "2016-05-02 14:09:44" "01723" "2016-05-02 15:21:11" "SEQ" "DNA" "" "" "0000080782" "00080689" "1" "01723" "01723" "2016-05-02 15:08:12" "01723" "2016-05-02 15:20:42" "SEQ" "DNA" "" "" "0000434497" "00433066" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434508" "00433077" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434516" "00433085" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434517" "00433086" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 118 "{{screeningid}}" "{{geneid}}" "0000080665" "STAT1" "0000080666" "STAT1" "0000080667" "STAT1" "0000080668" "STAT1" "0000080669" "STAT1" "0000080670" "STAT1" "0000080671" "STAT1" "0000080672" "STAT1" "0000080673" "STAT1" "0000080674" "STAT1" "0000080675" "STAT1" "0000080676" "STAT1" "0000080677" "STAT1" "0000080678" "STAT1" "0000080679" "STAT1" "0000080680" "STAT1" "0000080681" "STAT1" "0000080682" "STAT1" "0000080683" "STAT1" "0000080684" "STAT1" "0000080685" "STAT1" "0000080686" "STAT1" "0000080687" "STAT1" "0000080688" "STAT1" "0000080689" "STAT1" "0000080690" "STAT1" "0000080691" "STAT1" "0000080692" "STAT1" "0000080693" "STAT1" "0000080694" "STAT1" "0000080695" "STAT1" "0000080696" "STAT1" "0000080697" "STAT1" "0000080698" "STAT1" "0000080699" "STAT1" "0000080700" "STAT1" "0000080701" "STAT1" "0000080702" "STAT1" "0000080703" "STAT1" "0000080704" "STAT1" "0000080705" "STAT1" "0000080706" "STAT1" "0000080707" "STAT1" "0000080708" "STAT1" "0000080709" "STAT1" "0000080710" "STAT1" "0000080711" "STAT1" "0000080712" "STAT1" "0000080713" "STAT1" "0000080714" "STAT1" "0000080715" "STAT1" "0000080716" "STAT1" "0000080717" "STAT1" "0000080718" "STAT1" "0000080719" "STAT1" "0000080720" "STAT1" "0000080721" "STAT1" "0000080722" "STAT1" "0000080723" "STAT1" "0000080724" "STAT1" "0000080725" "STAT1" "0000080726" "STAT1" "0000080727" "STAT1" "0000080728" "STAT1" "0000080729" "STAT1" "0000080730" "STAT1" "0000080731" "STAT1" "0000080732" "STAT1" "0000080733" "STAT1" "0000080734" "STAT1" "0000080735" "STAT1" "0000080736" "STAT1" "0000080737" "STAT1" "0000080738" "STAT1" "0000080739" "STAT1" "0000080740" "STAT1" "0000080741" "STAT1" "0000080742" "STAT1" "0000080743" "STAT1" "0000080744" "STAT1" "0000080745" "STAT1" "0000080746" "STAT1" "0000080747" "STAT1" "0000080748" "STAT1" "0000080749" "STAT1" "0000080750" "STAT1" "0000080751" "STAT1" "0000080752" "STAT1" "0000080753" "STAT1" "0000080754" "STAT1" "0000080755" "STAT1" "0000080756" "STAT1" "0000080757" "STAT1" "0000080758" "STAT1" "0000080759" "STAT1" "0000080760" "STAT1" "0000080761" "STAT1" "0000080762" "STAT1" "0000080763" "STAT1" "0000080764" "STAT1" "0000080765" "STAT1" "0000080766" "STAT1" "0000080767" "STAT1" "0000080768" "STAT1" "0000080769" "STAT1" "0000080770" "STAT1" "0000080771" "STAT1" "0000080772" "STAT1" "0000080773" "STAT1" "0000080774" "STAT1" "0000080775" "STAT1" "0000080776" "STAT1" "0000080777" "STAT1" "0000080778" "STAT1" "0000080779" "STAT1" "0000080780" "STAT1" "0000080781" "STAT1" "0000080782" "STAT1" ## 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 = 199 "{{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}}" "0000129627" "0" "95" "2" "191840556" "191840556" "subst" "0" "00006" "STAT1_000001" "g.191840556A>G" "" "{PMID:Dupuis 2001:11452125}, {OMIM600555:0001}" "" "2116T>C" "AD Loss-of-function (LOF) variant; de novo, in patient" "De novo" "" "" "0" "" "" "g.190975830A>G" "" "pathogenic" "" "0000129628" "1" "95" "2" "191840556" "191840556" "subst" "0" "00006" "STAT1_000001" "g.191840556A>G" "" "{PMID:Dupuis 2001:11452125}, {OMIM600555:0001}" "" "2116T>C" "loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190975830A>G" "" "pathogenic" "" "0000129629" "3" "99" "2" "191843697" "191843698" "del" "0" "01723" "STAT1_000025" "g.191843697_191843698del" "" "{PMID:Dupuis 2003:12590259}" "" "1757-1758delAG" "AR loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190978971_190978972del" "" "pathogenic" "" "0000129630" "3" "97" "2" "191843656" "191843656" "subst" "0" "01723" "STAT1_000026" "g.191843656A>G" "" "{PMID:Dupuis 2003:12590259}" "" "" "AR loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190978930A>G" "" "pathogenic" "" "0000129631" "3" "99" "2" "191841698" "191841698" "dup" "0" "01723" "STAT1_000004" "g.191841698dup" "" "{PMID:Chapgier 2006a:16585605}" "" "1928insA" "AR loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190976972dup" "" "pathogenic" "" "0000129632" "1" "95" "2" "191856033" "191856033" "subst" "0" "00006" "STAT1_000023" "g.191856033C>G" "" "{PMID:Chapgier 2006b:16934001}, {OMIM600555:0005}" "" "" "AD loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190991307C>G" "" "pathogenic" "" "0000129633" "1" "95" "2" "191848425" "191848425" "subst" "0" "00006" "STAT1_000005" "g.191848425C>A" "" "{PMID:Chapgier 2006b:16934001}, {OMIM600555:0004}" "" "" "AD loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190983699C>A" "" "pathogenic" "" "0000129634" "3" "97" "2" "191840587" "191840587" "subst" "0" "01723" "STAT1_000006" "g.191840587G>A" "" "{PMID:Chapgier 2009:19436109}" "" "C2086T" "AR loss-of-function (LOF) variantAffects splicing; mRNA containing exon 23 severely reduced" "Germline" "" "" "0" "" "" "g.190975861G>A" "" "pathogenic" "" "0000129635" "1" "95" "2" "191859911" "191859911" "subst" "0" "00006" "STAT1_000007" "g.191859911G>A" "" "{PMID:van de Veerdonk 2011:21714643}, {OMIM600555:0008}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129636" "1" "95" "2" "191859931" "191859931" "subst" "0" "00006" "STAT1_000008" "g.191859931G>A" "" "{PMID:van de Veerdonk 2011:21714643}, {OMIM600555:0009}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129637" "1" "95" "2" "191859931" "191859931" "subst" "0" "00006" "STAT1_000008" "g.191859931G>A" "" "{PMID:van de Veerdonk 2011:21714643}, {OMIM600555:0009}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129638" "1" "95" "2" "191859911" "191859911" "subst" "0" "00006" "STAT1_000007" "g.191859911G>A" "" "{PMID:van de Veerdonk 2011:21714643}, {OMIM600555:0008}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129639" "1" "95" "2" "191859931" "191859931" "subst" "0" "00006" "STAT1_000008" "g.191859931G>A" "" "{PMID:van de Veerdonk 2011:21714643}, {OMIM600555:0009}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129640" "3" "99" "2" "191862973" "191862973" "subst" "0" "01723" "STAT1_000009" "g.191862973C>A" "" "{PMID:Kong 2010:20841510}, {OMIM600555:0007}" "" "" "AR Loss-of-function (LOF) variant.The aa substitution itself has no effect. The transcript lacking exon 8 does not produce a protein." "Germline" "" "" "0" "" "" "g.190998247C>A" "" "pathogenic" "" "0000129641" "11" "95" "2" "191862944" "191862944" "subst" "0" "00006" "STAT1_000011" "g.191862944T>C" "" "{PMID:Kristensen 2011:21057861}" "" "16034A>G" "AR Loss-of-function (LOF) variant. substitution, affects splicing" "Germline" "" "" "0" "" "" "g.190998218T>C" "" "pathogenic" "" "0000129642" "1" "95" "2" "191859931" "191859931" "subst" "0" "00006" "STAT1_000008" "g.191859931G>A" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0009}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129643" "1" "97" "2" "191859910" "191859910" "subst" "0" "00006" "STAT1_000013" "g.191859910C>T" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0010}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129644" "1" "97" "2" "191859910" "191859910" "subst" "0" "00006" "STAT1_000013" "g.191859910C>T" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0010}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129645" "1" "97" "2" "191859910" "191859910" "subst" "0" "00006" "STAT1_000013" "g.191859910C>T" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0010}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129646" "1" "97" "2" "191859910" "191859910" "subst" "0" "00006" "STAT1_000013" "g.191859910C>T" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0010}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129647" "1" "97" "2" "191859874" "191859874" "subst" "0" "00006" "STAT1_000014" "g.191859874T>A" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0011}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995148T>A" "" "pathogenic" "" "0000129648" "1" "97" "2" "191862972" "191862972" "subst" "0" "00006" "STAT1_000015" "g.191862972T>C" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0012}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190998246T>C" "" "pathogenic" "" "0000129649" "1" "97" "2" "191862972" "191862972" "subst" "0" "00006" "STAT1_000015" "g.191862972T>C" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0012}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190998246T>C" "" "pathogenic" "" "0000129650" "1" "95" "2" "191864373" "191864373" "subst" "0" "00006" "STAT1_000016" "g.191864373A>G" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0013}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190999647A>G" "" "pathogenic" "" "0000129651" "1" "95" "2" "191859911" "191859911" "subst" "0" "00006" "STAT1_000007" "g.191859911G>A" "" "{PMID:Liu 2011:21727188}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129652" "1" "95" "2" "191859911" "191859911" "subst" "0" "00006" "STAT1_000007" "g.191859911G>A" "" "{PMID:Liu 2011:21727188}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129653" "1" "95" "2" "191859911" "191859911" "subst" "0" "00006" "STAT1_000007" "g.191859911G>A" "" "{PMID:Liu 2011:21727188}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129654" "0" "95" "2" "191864399" "191864399" "subst" "0" "00006" "STAT1_000017" "g.191864399T>C" "" "{PMID:Liu 2011:21727188}, {PMID:Soltesz 2013:23709754} {OMIM600555:0014}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190999673T>C" "" "pathogenic" "" "0000129655" "1" "97" "2" "191859869" "191859869" "subst" "0" "00006" "STAT1_000018" "g.191859869T>C" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0015}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995143T>C" "" "pathogenic" "" "0000129656" "1" "97" "2" "191859869" "191859869" "subst" "0" "00006" "STAT1_000018" "g.191859869T>C" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0015}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995143T>C" "" "pathogenic" "" "0000129657" "1" "95" "2" "191864385" "191864385" "subst" "0" "00006" "STAT1_000019" "g.191864385A>T" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0016}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190999659A>T" "" "pathogenic" "" "0000129658" "1" "95" "2" "191864400" "191864400" "subst" "0" "00006" "STAT1_000020" "g.191864400C>G" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0017}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190999674C>G" "" "pathogenic" "" "0000129659" "1" "97" "2" "191862970" "191862970" "subst" "0" "00006" "STAT1_000056" "g.191862970C>N" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0018}" "" "DNA change not specified" "gain-of-function (GOF) variant\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.190998244C>D" "" "pathogenic" "" "0000129660" "1" "95" "2" "191862970" "191862970" "subst" "0" "00006" "STAT1_000056" "g.191862970C>N" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0018}" "" "DNA change not specified" "gain-of-function (GOF) variant\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.190998244C>D" "" "pathogenic" "" "0000129661" "1" "97" "2" "191859919" "191859919" "subst" "0" "00006" "STAT1_000022" "g.191859919T>G" "" "{PMID:Liu 2011:21727188}, {OMIM600555:0019}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995193T>G" "" "pathogenic" "" "0000129662" "0" "95" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Smeekens 2011:22195034}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129663" "0" "95" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Smeekens 2011:22195034}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129664" "3" "99" "2" "191872289" "191872289" "subst" "0" "01723" "STAT1_000012" "g.191872289C>G" "" "{PMID:Vairo 2011:21772053}" "" "" "AR Loss-of-function (LOF) variant.substitution, affects splicing" "Germline" "" "" "0" "" "" "g.191007563C>G" "" "pathogenic" "" "0000129665" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Takezaki 2012:22730530}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129666" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Takezaki 2012:22730530}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129667" "11" "97" "2" "191841607" "191841607" "subst" "0" "01723" "STAT1_000028" "g.191841607T>C" "" "{PMID:\tTsumura 2012:22573496}" "" "" "AD loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190976881T>C" "" "pathogenic" "" "0000129668" "0" "97" "2" "191841716" "191841716" "subst" "0" "01723" "STAT1_000029" "g.191841716T>C" "" "{PMID:\tTsumura 2012:22573496}" "" "" "AD loss-of-function (LOF) variant" "Unknown" "" "" "0" "" "" "g.190976990T>C" "" "pathogenic" "" "0000129669" "0" "97" "2" "191841664" "191841664" "subst" "0" "01723" "STAT1_000030" "g.191841664A>T" "" "{PMID:Sampaio 2012:22437822}" "" "" "AD loss-of-function (LOF) variant" "De novo" "" "" "0" "" "" "g.190976938A>T" "" "pathogenic" "" "0000129670" "11" "97" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Hori 2012:22847544}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129671" "3" "99" "2" "191840587" "191840587" "subst" "0" "01723" "STAT1_000006" "g.191840587G>A" "" "{PMID:Averbuch 2011:20962705}" "" "P696S" "AR loss-of-function (LOF) variant. Affects splicing; 2086c>u mRNA severely reduced" "Germline" "" "" "0" "" "" "g.190975861G>A" "" "pathogenic" "" "0000129672" "21" "99" "2" "191840571" "191840571" "subst" "0" "01723" "STAT1_000031" "g.191840571T>C" "" "{PMID:Hirata 2013:23585529}" "" "" "AD loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.190975845T>C" "" "pathogenic" "" "0000129673" "0" "99" "2" "191862972" "191862972" "subst" "0" "01723" "STAT1_000015" "g.191862972T>C" "" "{PMID:Wang 2012:23245795}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190998246T>C" "" "pathogenic" "" "0000129674" "0" "99" "2" "191854381" "191854381" "subst" "0" "01723" "STAT1_000032" "g.191854381C>T" "" "{PMID:Sampaio 2013:23541320}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190989655C>T" "" "pathogenic" "" "0000129675" "0" "99" "2" "191859931" "191859931" "subst" "0" "01723" "STAT1_000008" "g.191859931G>A" "" "{PMID:Sampaio 2013:23541320}, {OMIM600555:0009}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129676" "0" "99" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Sampaio 2013:23541320}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129677" "0" "99" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000033" "g.191859911G>C" "" "{PMID:Sampaio 2013:23541320}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190995185G>C" "" "pathogenic" "" "0000129678" "0" "99" "2" "191864379" "191864379" "subst" "0" "01723" "STAT1_000034" "g.191864379A>G" "" "{PMID:Sampaio 2013:23541320}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190999653A>G" "" "pathogenic" "" "0000129679" "0" "99" "2" "191851590" "191851590" "subst" "0" "01723" "STAT1_000035" "g.191851590A>T" "" "{PMID:Al Rushood 2013:23541088}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986864A>T" "" "pathogenic" "" "0000129680" "0" "97" "2" "191851612" "191851612" "subst" "0" "01723" "STAT1_000036" "g.191851612T>C" "" "{PMID:Aldave 2013:24105462}" "" "N397D" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986886T>C" "" "pathogenic" "" "0000129681" "0" "99" "2" "191864356" "191864356" "subst" "0" "01723" "STAT1_000037" "g.191864356G>T" "" "{PMID:Soltesz 2013:23709754}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190999630G>T" "" "pathogenic" "" "0000129682" "10" "99" "2" "191859931" "191859931" "subst" "0" "01723" "STAT1_000008" "g.191859931G>A" "" "{PMID:Soltesz 2013:23709754}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129683" "0" "99" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Toth 2012:22748593} {PMID:Soltesz 2013:23709754}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129684" "0" "99" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Soltesz 2013:23709754}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129685" "0" "99" "2" "191859877" "191859877" "subst" "0" "01723" "STAT1_000038" "g.191859877T>C" "" "{PMID:Soltesz 2013:23709754}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995151T>C" "" "pathogenic" "" "0000129686" "0" "99" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Soltesz 2013:23709754}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129687" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Sharfe 2014:24239102}" "" "C1154T" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129688" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Sharfe 2014:24239102}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129689" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Sharfe 2014:24239102}" "" "" "loss-of-function (LOF) variant" "De novo" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129690" "0" "97" "2" "191859850" "191859850" "subst" "0" "01723" "STAT1_000039" "g.191859850A>G" "" "{PMID:Sharfe 2014:24239102}" "" "not specified" "AD loss-of-function (LOF) variant? not experimentally proven" "De novo" "" "" "0" "" "" "g.190995124A>G" "" "pathogenic" "" "0000129691" "0" "97" "2" "191856021" "191856021" "subst" "0" "01723" "STAT1_000040" "g.191856021A>G" "" "{PMID:Sharfe 2014:24239102}" "" "not specified" "AD loss-of-function (LOF) variant" "De novo" "" "" "0" "" "" "g.190991295A>G" "" "pathogenic" "" "0000129692" "0" "97" "2" "191862663" "191862663" "subst" "0" "01723" "STAT1_000041" "g.191862663T>C" "" "{PMID:Romberg 2013:23403048}" "" "E235A, E235G in correction" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190997937T>C" "" "pathogenic" "" "0000129693" "0" "97" "2" "191851782" "191851782" "subst" "0" "01723" "STAT1_000042" "g.191851782C>G" "" "{PMID:Kumar 2014:24709374}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190987056C>G" "" "pathogenic" "" "0000129694" "0" "97" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Tanimura 2015:26080282}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129695" "21" "97" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Kataoka 2015:26242301}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129696" "0" "97" "2" "191859868" "191859868" "subst" "0" "01723" "STAT1_000043" "g.191859868G>A" "" "{PMID:Zheng 2015:26255980}" "" "not specified" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995142G>A" "" "pathogenic" "" "0000129697" "0" "97" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Zheng 2015:26255980}" "" "not specified" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129698" "0" "97" "2" "191851642" "191851642" "subst" "0" "01723" "STAT1_000044" "g.191851642T>C" "" "{PMID:Giardino 2016:26467763}" "" "not specified" "gain-of-function (GOF) muation" "De novo" "" "" "0" "" "" "g.190986916T>C" "" "pathogenic" "" "0000129699" "0" "97" "2" "191859837" "191859837" "subst" "0" "01723" "STAT1_000045" "g.191859837T>G" "" "{PMID:Martinez-Martinez 2015:26514428}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190995111T>G" "" "pathogenic" "" "0000129700" "0" "97" "2" "191859931" "191859931" "subst" "0" "01723" "STAT1_000008" "g.191859931G>A" "" "{PMID:Nielsen 2015:26494717}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129701" "0" "97" "2" "191851602" "191851602" "subst" "0" "01723" "STAT1_000046" "g.191851602A>T" "" "{PMID:Zerbe 2016:26743090}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986876A>T" "" "pathogenic" "" "0000129702" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Zerbe 2016:26743090}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129703" "0" "97" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Zerbe 2016:26743090}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129704" "0" "97" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Dhalla 2015:26621323}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129705" "0" "97" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Kilic 2014:25367169}" "" "820G>A (reverse sequence)" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129706" "0" "97" "2" "191859899" "191859899" "subst" "0" "01723" "STAT1_000047" "g.191859899T>C" "" "{PMID:Yamazaki 2014:25288569}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190995173T>C" "" "pathogenic" "" "0000129707" "0" "97" "2" "191851650" "191851650" "subst" "0" "01723" "STAT1_000048" "g.191851650C>T" "" "{PMID:Yamazaki 2014:25288569}" "" "text 1150G>A, in Fig 1151G>A" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986924C>T" "" "pathogenic" "" "0000129708" "0" "97" "2" "191854378" "191854378" "subst" "0" "01723" "STAT1_000049" "g.191854378G>T" "" "{PMID:Mizoguchi 2014:24343863}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190989652G>T" "" "pathogenic" "" "0000129709" "0" "97" "2" "191862972" "191862972" "subst" "0" "01723" "STAT1_000015" "g.191862972T>C" "" "{PMID:Mizoguchi 2014:24343863}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190998246T>C" "" "pathogenic" "" "0000129710" "0" "97" "2" "191859931" "191859931" "subst" "0" "01723" "STAT1_000008" "g.191859931G>A" "" "{PMID:Mizoguchi 2014:24343863}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129711" "0" "97" "2" "191856005" "191856005" "subst" "0" "01723" "STAT1_000050" "g.191856005G>A" "" "{PMID:Mizoguchi 2014:24343863}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190991279G>A" "" "pathogenic" "" "0000129712" "0" "97" "2" "191851632" "191851632" "subst" "0" "01723" "STAT1_000051" "g.191851632A>G" "" "{PMID:Mizoguchi 2014:24343863}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986906A>G" "" "pathogenic" "" "0000129713" "0" "97" "2" "191862947" "191862947" "subst" "0" "01723" "STAT1_000052" "g.191862947C>A" "" "{PMID:Uzel 2013:23534974}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190998221C>A" "" "pathogenic" "" "0000129714" "0" "97" "2" "191854365" "191854365" "subst" "0" "01723" "STAT1_000053" "g.191854365A>C" "" "{PMID:Uzel 2013:23534974}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190989639A>C" "" "pathogenic" "" "0000129715" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Uzel 2013:23534974}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129716" "0" "97" "2" "191859935" "191859935" "subst" "0.00238467" "01723" "STAT1_000054" "g.191859935C>T" "" "{PMID:Uzel 2013:23534974}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995209C>T" "" "pathogenic" "" "0000129717" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Uzel 2013:23534974}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129718" "0" "97" "2" "191864405" "191864405" "subst" "0" "01723" "STAT1_000055" "g.191864405A>C" "" "{PMID:Mekki 2014:24335902}" "" "876T>G" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190999679A>C" "" "pathogenic" "" "0000129719" "0" "97" "2" "191841740" "191841740" "subst" "0" "01723" "STAT1_000057" "g.191841740G>A" "" "{PMID:Sobh 2016:26948078}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190977014G>A" "" "pathogenic" "" "0000129720" "0" "97" "2" "191859931" "191859931" "subst" "0" "01723" "STAT1_000008" "g.191859931G>A" "" "{PMID:Lee 2014:24188975}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129721" "0" "97" "2" "191854364" "191854364" "subst" "0" "01723" "STAT1_000058" "g.191854364C>A" "" "{PMID:Lee 2014:24188975}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190989638C>A" "" "pathogenic" "" "0000129722" "0" "97" "2" "191859868" "191859868" "subst" "0" "01723" "STAT1_000043" "g.191859868G>A" "" "{PMID:Lee 2014:24188975}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995142G>A" "" "pathogenic" "" "0000129723" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Frans 2014:25042743}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129724" "0" "97" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Wildbaum 2013:23791509}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129725" "0" "97" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Mossner 2016:26787170}" "" "DNA change not specified" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129726" "0" "97" "2" "191851642" "191851642" "subst" "0" "01723" "STAT1_000044" "g.191851642T>C" "" "{PMID:Higgins 2015:25662309}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986916T>C" "" "pathogenic" "" "0000129727" "0" "97" "2" "191864379" "191864379" "subst" "0" "01723" "STAT1_000034" "g.191864379A>G" "" "{PMID:Kobbe 2016:27063510}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190999653A>G" "" "pathogenic" "" "0000129728" "0" "97" "2" "191862972" "191862972" "subst" "0" "01723" "STAT1_000015" "g.191862972T>C" "" "{PMID:Depner 2016:26604104}, {OMIM600555:0012}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190998246T>C" "" "pathogenic" "" "0000129729" "0" "97" "2" "191859931" "191859931" "subst" "0" "01723" "STAT1_000008" "g.191859931G>A" "" "{PMID:Depner 2016:26604104}, {OMIM600555:0009}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129730" "0" "97" "2" "191859931" "191859931" "subst" "0" "01723" "STAT1_000008" "g.191859931G>A" "" "{PMID:Depner 2016:26604104}, {OMIM600555:0009}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000129731" "0" "97" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Depner 2016:26604104}, {OMIM600555:0008}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129732" "0" "97" "2" "191859911" "191859911" "subst" "0" "01723" "STAT1_000007" "g.191859911G>A" "" "{PMID:Depner 2016:26604104}, {OMIM600555:0008}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995185G>A" "" "pathogenic" "" "0000129733" "0" "97" "2" "191859910" "191859910" "subst" "0" "01723" "STAT1_000013" "g.191859910C>T" "" "{PMID:Depner 2016:26604104}, {OMIM600555:0010}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000129734" "0" "97" "2" "191859854" "191859854" "subst" "0" "01723" "STAT1_000059" "g.191859854G>A" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190995128G>A" "" "pathogenic" "" "0000129735" "0" "97" "2" "191851612" "191851612" "subst" "0" "01723" "STAT1_000036" "g.191851612T>C" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190986886T>C" "" "pathogenic" "" "0000129736" "0" "97" "2" "191851590" "191851590" "subst" "0" "01723" "STAT1_000035" "g.191851590A>T" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Germline" "" "" "0" "" "" "g.190986864A>T" "" "pathogenic" "" "0000129737" "0" "97" "2" "191859872" "191859872" "subst" "0" "01723" "STAT1_000060" "g.191859872A>C" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190995146A>C" "" "pathogenic" "" "0000129738" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129739" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "De novo" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129740" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129741" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000027" "g.191851647G>A" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000129742" "0" "97" "2" "191851639" "191851639" "subst" "0" "01723" "STAT1_000061" "g.191851639T>C" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986913T>C" "" "pathogenic" "" "0000129743" "0" "97" "2" "191848416" "191848416" "subst" "0" "01723" "STAT1_000062" "g.191848416G>C" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190983690G>C" "" "pathogenic" "" "0000129744" "0" "97" "2" "191851647" "191851647" "subst" "0" "01723" "STAT1_000063" "g.191851647G>T" "" "{PMID:Depner 2016:26604104}" "" "" "gain-of-function (GOF) variant" "Unknown" "" "" "0" "" "" "g.190986921G>T" "" "pathogenic" "" "0000129745" "21" "97" "2" "191873826" "191873826" "subst" "0" "01723" "STAT1_000024" "g.191873826C>T" "" "{PMID:Kristensen 2011:21057861}" "" "G5151A" "AR Loss-of-function (LOF) variant" "Germline" "" "" "0" "" "" "g.191009100C>T" "" "pathogenic" "" "0000250815" "0" "30" "2" "191862937" "191862937" "subst" "0.00304107" "02326" "STAT1_000075" "g.191862937A>T" "" "" "" "STAT1(NM_007315.3):c.633+6T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190998211A>T" "" "likely benign" "" "0000251268" "0" "10" "2" "191848206" "191848206" "subst" "0" "02326" "STAT1_000068" "g.191848206A>G" "" "" "" "STAT1(NM_007315.3):c.1446+162T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190983480A>G" "" "benign" "" "0000252063" "0" "30" "2" "191850391" "191850391" "subst" "0.00184911" "02326" "STAT1_000070" "g.191850391A>G" "" "" "" "STAT1(NM_007315.3):c.1222-5T>C (p.?), STAT1(NM_007315.4):c.1222-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190985665A>G" "" "likely benign" "" "0000252064" "0" "30" "2" "191850400" "191850400" "subst" "0.000187003" "02326" "STAT1_000071" "g.191850400A>C" "" "" "" "STAT1(NM_007315.3):c.1222-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190985674A>C" "" "likely benign" "" "0000254034" "0" "30" "2" "191862937" "191862937" "subst" "0.00304107" "01943" "STAT1_000075" "g.191862937A>T" "" "" "" "STAT1(NM_007315.3):c.633+6T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190998211A>T" "" "likely benign" "" "0000313195" "0" "90" "2" "191851647" "191851647" "subst" "0" "02329" "STAT1_000027" "g.191851647G>A" "" "" "" "STAT1(NM_007315.4):c.1154C>T (p.T385M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "" "0000314158" "0" "70" "2" "191851639" "191851639" "subst" "0" "02326" "STAT1_000061" "g.191851639T>C" "" "" "" "STAT1(NM_007315.3):c.1162A>G (p.K388E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190986913T>C" "" "likely pathogenic" "" "0000314159" "0" "10" "2" "191841759" "191841759" "subst" "0.2258" "02326" "STAT1_000066" "g.191841759G>A" "" "" "" "STAT1(NM_007315.3):c.1874-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190977033G>A" "" "benign" "" "0000314160" "0" "70" "2" "191841652" "191841652" "subst" "0" "02326" "STAT1_000065" "g.191841652T>C" "" "" "" "STAT1(NM_139266.2):c.1973A>G (p.N658S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190976926T>C" "" "likely pathogenic" "" "0000314161" "0" "10" "2" "191839539" "191839539" "subst" "0.00643323" "02326" "STAT1_000064" "g.191839539C>A" "" "" "" "STAT1(NM_007315.3):c.2238+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190974813C>A" "" "benign" "" "0000314162" "0" "90" "2" "191864399" "191864399" "subst" "0" "02326" "STAT1_000017" "g.191864399T>C" "" "" "" "STAT1(NM_007315.3):c.494A>G (p.D165G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190999673T>C" "" "pathogenic" "" "0000314163" "0" "90" "2" "191859931" "191859931" "subst" "0" "02326" "STAT1_000008" "g.191859931G>A" "" "" "" "STAT1(NM_007315.3):c.800C>T (p.A267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000314164" "0" "90" "2" "191859910" "191859910" "subst" "0" "02326" "STAT1_000013" "g.191859910C>T" "" "" "" "STAT1(NM_007315.3):c.821G>A (p.R274Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995184C>T" "" "pathogenic" "" "0000314165" "0" "30" "2" "191859733" "191859733" "subst" "0" "02326" "STAT1_000074" "g.191859733G>A" "" "" "" "STAT1(NM_007315.3):c.944+54C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995007G>A" "" "likely benign" "" "0000315784" "0" "50" "2" "191848435" "191848435" "subst" "0" "01943" "STAT1_000069" "g.191848435T>A" "" "" "" "STAT1(NM_007315.3):c.1379A>T (p.N460I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190983709T>A" "" "VUS" "" "0000315785" "0" "30" "2" "191843583" "191843583" "subst" "0.00120055" "01943" "STAT1_000067" "g.191843583G>A" "" "" "" "STAT1(NM_007315.3):c.1872C>T (p.G624=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190978857G>A" "" "likely benign" "" "0000315786" "0" "30" "2" "191859935" "191859935" "subst" "0.00238467" "01943" "STAT1_000054" "g.191859935C>T" "" "" "" "STAT1(NM_007315.3):c.796G>A (p.V266I, p.(Val266Ile)), STAT1(NM_007315.4):c.796G>A (p.V266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995209C>T" "" "likely benign" "" "0000315787" "0" "30" "2" "191856001" "191856001" "subst" "0.00358184" "01943" "STAT1_000073" "g.191856001C>T" "" "" "" "STAT1(NM_007315.3):c.990G>A (p.Q330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190991275C>T" "" "likely benign" "" "0000337410" "0" "10" "2" "191841759" "191841759" "subst" "0.2258" "02327" "STAT1_000066" "g.191841759G>A" "" "" "" "STAT1(NM_007315.3):c.1874-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190977033G>A" "" "benign" "" "0000337411" "0" "30" "2" "191851706" "191851706" "subst" "0.00119517" "02327" "STAT1_000077" "g.191851706C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190986980C>A" "" "likely benign" "" "0000341317" "0" "90" "2" "191859931" "191859931" "subst" "0" "02327" "STAT1_000008" "g.191859931G>A" "" "" "" "STAT1(NM_007315.3):c.800C>T (p.A267V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995205G>A" "" "pathogenic" "" "0000342239" "0" "90" "2" "191862948" "191862948" "subst" "0" "02327" "STAT1_000080" "g.191862948T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190998222T>C" "" "pathogenic" "" "0000342505" "0" "70" "2" "191859911" "191859911" "subst" "0" "02327" "STAT1_000007" "g.191859911G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995185G>A" "" "likely pathogenic" "" "0000344011" "0" "90" "2" "191874662" "191874662" "subst" "0" "02327" "STAT1_000082" "g.191874662T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.191009936T>A" "" "pathogenic" "" "0000344692" "0" "50" "2" "191862640" "191862640" "subst" "0" "02327" "STAT1_000079" "g.191862640G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190997914G>C" "" "VUS" "" "0000344724" "0" "90" "2" "191859919" "191859919" "subst" "0" "02327" "STAT1_000022" "g.191859919T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995193T>G" "" "pathogenic" "" "0000345524" "0" "70" "2" "191840559" "191840559" "subst" "0" "02327" "STAT1_000076" "g.191840559T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190975833T>A" "" "likely pathogenic" "" "0000347770" "0" "90" "2" "191862971" "191862971" "subst" "0" "02327" "STAT1_000081" "g.191862971A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190998245A>G" "" "pathogenic" "" "0000350026" "0" "50" "2" "191859872" "191859872" "subst" "0" "02327" "STAT1_000078" "g.191859872A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.190995146A>T" "" "VUS" "" "0000513760" "0" "50" "2" "191841647" "191841658" "del" "0" "02327" "STAT1_000083" "g.191841647_191841658del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190976921_190976932del" "" "VUS" "" "0000513761" "0" "50" "2" "191841668" "191841668" "subst" "0" "02327" "STAT1_000084" "g.191841668C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190976942C>T" "" "VUS" "" "0000513762" "0" "30" "2" "191843690" "191843690" "subst" "1.22466E-5" "01804" "STAT1_000085" "g.191843690C>A" "" "" "" "STAT1(NM_007315.3):c.1765G>T (p.(Ala589Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190978964C>A" "" "likely benign" "" "0000513763" "0" "30" "2" "191849028" "191849028" "subst" "0.000527966" "01943" "STAT1_000086" "g.191849028A>C" "" "" "" "STAT1(NM_007315.3):c.1347+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190984302A>C" "" "likely benign" "" "0000513764" "0" "30" "2" "191849028" "191849028" "subst" "0.000527966" "02326" "STAT1_000086" "g.191849028A>C" "" "" "" "STAT1(NM_007315.3):c.1347+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190984302A>C" "" "likely benign" "" "0000513765" "0" "30" "2" "191850338" "191850338" "subst" "0.000397979" "01943" "STAT1_000087" "g.191850338C>T" "" "" "" "STAT1(NM_007315.3):c.1263+7G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190985612C>T" "" "likely benign" "" "0000513766" "0" "10" "2" "191850338" "191850338" "subst" "0.000397979" "02326" "STAT1_000087" "g.191850338C>T" "" "" "" "STAT1(NM_007315.3):c.1263+7G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190985612C>T" "" "benign" "" "0000513767" "0" "30" "2" "191851646" "191851646" "subst" "0.00419656" "01943" "STAT1_000088" "g.191851646C>T" "" "" "" "STAT1(NM_007315.3):c.1155G>A (p.T385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190986920C>T" "" "likely benign" "" "0000513768" "0" "10" "2" "191854331" "191854331" "subst" "0.00118525" "01943" "STAT1_000089" "g.191854331G>C" "" "" "" "STAT1(NM_007315.3):c.1097+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190989605G>C" "" "benign" "" "0000513769" "0" "30" "2" "191856001" "191856001" "subst" "0.00358184" "02326" "STAT1_000073" "g.191856001C>T" "" "" "" "STAT1(NM_007315.3):c.990G>A (p.Q330=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190991275C>T" "" "likely benign" "" "0000513770" "0" "90" "2" "191859910" "191859910" "subst" "0" "01943" "STAT1_000013" "g.191859910C>T" "" "" "" "STAT1(NM_007315.3):c.821G>A (p.R274Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190995184C>T" "" "pathogenic" "" "0000513771" "0" "30" "2" "191859935" "191859935" "subst" "0.00238467" "01804" "STAT1_000054" "g.191859935C>T" "" "" "" "STAT1(NM_007315.3):c.796G>A (p.V266I, p.(Val266Ile)), STAT1(NM_007315.4):c.796G>A (p.V266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190995209C>T" "" "likely benign" "" "0000513772" "0" "50" "2" "191862673" "191862673" "subst" "0" "01804" "STAT1_000090" "g.191862673T>C" "" "" "" "STAT1(NM_007315.3):c.694A>G (p.(Ile232Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190997947T>C" "" "VUS" "" "0000513773" "0" "10" "2" "191862749" "191862749" "subst" "0.0152536" "02326" "STAT1_000091" "g.191862749G>A" "" "" "" "STAT1(NM_007315.3):c.634-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190998023G>A" "" "benign" "" "0000513774" "0" "30" "2" "191862937" "191862937" "subst" "0.00304107" "01804" "STAT1_000075" "g.191862937A>T" "" "" "" "STAT1(NM_007315.3):c.633+6T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190998211A>T" "" "likely benign" "" "0000607353" "0" "30" "2" "191850391" "191850391" "subst" "0.00184911" "01804" "STAT1_000070" "g.191850391A>G" "" "" "" "STAT1(NM_007315.3):c.1222-5T>C (p.?), STAT1(NM_007315.4):c.1222-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190985665A>G" "" "likely benign" "" "0000607354" "0" "10" "2" "191874667" "191874667" "subst" "0.0826401" "02327" "STAT1_000095" "g.191874667A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.191009941A>G" "" "benign" "" "0000620911" "0" "50" "2" "191850375" "191850375" "subst" "0" "01943" "STAT1_000092" "g.191850375T>A" "" "" "" "STAT1(NM_007315.3):c.1233A>T (p.E411D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190985649T>A" "" "VUS" "" "0000620912" "0" "50" "2" "191850376" "191850376" "subst" "0" "01943" "STAT1_000093" "g.191850376T>A" "" "" "" "STAT1(NM_007315.3):c.1232A>T (p.E411V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190985650T>A" "" "VUS" "" "0000620913" "0" "50" "2" "191862732" "191862732" "subst" "0" "01943" "STAT1_000094" "g.191862732T>C" "" "" "" "STAT1(NM_007315.3):c.635A>G (p.E212G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190998006T>C" "" "VUS" "" "0000654476" "0" "30" "2" "191850391" "191850391" "subst" "0.00184911" "01943" "STAT1_000070" "g.191850391A>G" "" "" "" "STAT1(NM_007315.3):c.1222-5T>C (p.?), STAT1(NM_007315.4):c.1222-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190985665A>G" "" "likely benign" "" "0000654477" "0" "30" "2" "191850391" "191850391" "subst" "0.00184911" "02325" "STAT1_000070" "g.191850391A>G" "" "" "" "STAT1(NM_007315.3):c.1222-5T>C (p.?), STAT1(NM_007315.4):c.1222-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.190985665A>G" "" "likely benign" "" "0000718357" "0" "30" "2" "191844486" "191844486" "subst" "0.000536128" "02326" "STAT1_000096" "g.191844486G>A" "" "" "" "STAT1(NM_007315.3):c.1727+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718358" "0" "70" "2" "191851585" "191851585" "subst" "0" "02329" "STAT1_000072" "g.191851585G>T" "" "" "" "STAT1(NM_007315.4):c.1216C>A (p.H406N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800241" "0" "30" "2" "191840555" "191840555" "subst" "4.06931E-6" "02326" "STAT1_000097" "g.191840555C>T" "" "" "" "STAT1(NM_007315.3):c.2118G>A (p.L706=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800242" "0" "30" "2" "191850360" "191850360" "subst" "0.00013403" "02326" "STAT1_000098" "g.191850360G>C" "" "" "" "STAT1(NM_007315.3):c.1248C>G (p.(Gly416=), p.G416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800243" "0" "30" "2" "191851805" "191851805" "subst" "0.000424667" "02326" "STAT1_000099" "g.191851805A>T" "" "" "" "STAT1(NM_007315.3):c.1098-11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800244" "0" "30" "2" "191859935" "191859935" "subst" "0.00238467" "02325" "STAT1_000054" "g.191859935C>T" "" "" "" "STAT1(NM_007315.3):c.796G>A (p.V266I, p.(Val266Ile)), STAT1(NM_007315.4):c.796G>A (p.V266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849627" "0" "30" "2" "191850363" "191850363" "subst" "0" "01943" "STAT1_000100" "g.191850363A>G" "" "" "" "STAT1(NM_007315.3):c.1245T>C (p.A415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858221" "0" "30" "2" "191850360" "191850360" "subst" "0.00013403" "01804" "STAT1_000098" "g.191850360G>C" "" "" "" "STAT1(NM_007315.3):c.1248C>G (p.(Gly416=), p.G416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858222" "0" "30" "2" "191862645" "191862645" "subst" "0.000308657" "01804" "STAT1_000101" "g.191862645C>T" "" "" "" "STAT1(NM_007315.3):c.722G>A (p.(Arg241Gln)), STAT1(NM_007315.4):c.722G>A (p.R241Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884655" "0" "30" "2" "191854331" "191854331" "subst" "0.00118525" "02326" "STAT1_000089" "g.191854331G>C" "" "" "" "STAT1(NM_007315.3):c.1097+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884656" "0" "30" "2" "191859935" "191859935" "subst" "0.00238467" "02326" "STAT1_000054" "g.191859935C>T" "" "" "" "STAT1(NM_007315.3):c.796G>A (p.V266I, p.(Val266Ile)), STAT1(NM_007315.4):c.796G>A (p.V266I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911495" "0" "30" "2" "191862645" "191862645" "subst" "0.000308657" "02325" "STAT1_000101" "g.191862645C>T" "" "" "" "STAT1(NM_007315.3):c.722G>A (p.(Arg241Gln)), STAT1(NM_007315.4):c.722G>A (p.R241Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911496" "0" "50" "2" "191874599" "191874599" "subst" "8.12315E-6" "01804" "STAT1_000102" "g.191874599T>C" "" "" "" "STAT1(NM_007315.3):c.128+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920254" "1" "50" "2" "191845351" "191845351" "subst" "0" "00006" "STAT1_000104" "g.191845351A>G" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.190980625A>G" "" "VUS" "ACMG" "0000920263" "1" "90" "2" "191851647" "191851647" "subst" "0" "00006" "STAT1_000027" "g.191851647G>A" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.190986921G>A" "" "pathogenic" "ACMG" "0000920271" "1" "70" "2" "191851638" "191851638" "subst" "0" "00006" "STAT1_000105" "g.191851638T>C" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "De novo" "" "" "0" "" "" "g.190986912T>C" "" "likely pathogenic" "ACMG" "0000920272" "1" "70" "2" "191840560" "191840560" "subst" "0" "00006" "STAT1_000103" "g.191840560C>G" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.190975834C>G" "" "likely pathogenic" "ACMG" "0000923547" "0" "30" "2" "191864336" "191864336" "subst" "3.25079E-5" "02326" "STAT1_000106" "g.191864336A>G" "" "" "" "STAT1(NM_007315.3):c.541+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923548" "0" "10" "2" "191872307" "191872307" "subst" "0.00312243" "02326" "STAT1_000107" "g.191872307G>A" "" "" "" "STAT1(NM_007315.3):c.354C>T (p.N118=), STAT1(NM_007315.4):c.354C>T (p.(Asn118=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928462" "0" "30" "2" "191839630" "191839630" "subst" "0" "02326" "STAT1_000108" "g.191839630T>G" "" "" "" "STAT1(NM_007315.3):c.2164A>C (p.N722H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928463" "0" "30" "2" "191841606" "191841606" "subst" "0.000860984" "02326" "STAT1_000109" "g.191841606T>C" "" "" "" "STAT1(NM_007315.3):c.2019A>G (p.K673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947669" "0" "50" "2" "191851806" "191851806" "dup" "0" "02325" "STAT1_000110" "g.191851806dup" "" "" "" "STAT1(NM_007315.4):c.1098-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974833" "0" "50" "2" "191841625" "191841625" "subst" "0" "02329" "STAT1_000111" "g.191841625A>G" "" "" "" "STAT1(NM_001384881.1):c.2006T>C (p.L669P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974834" "0" "30" "2" "191851761" "191851761" "subst" "3.25378E-5" "01804" "STAT1_000112" "g.191851761G>A" "" "" "" "STAT1(NM_007315.4):c.1127+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974835" "0" "10" "2" "191872307" "191872307" "subst" "0.00312243" "01804" "STAT1_000107" "g.191872307G>A" "" "" "" "STAT1(NM_007315.3):c.354C>T (p.N118=), STAT1(NM_007315.4):c.354C>T (p.(Asn118=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000992326" "0" "30" "2" "191839658" "191839658" "subst" "0.00109401" "01804" "STAT1_000113" "g.191839658A>C" "" "" "" "STAT1(NM_007315.3):c.2136T>G (p.(Val712Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992327" "0" "50" "2" "191844520" "191844520" "subst" "0" "01804" "STAT1_000114" "g.191844520G>C" "" "" "" "STAT1(NM_007315.3):c.1705C>G (p.(Leu569Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992328" "0" "30" "2" "191850338" "191850338" "subst" "0.000397979" "01804" "STAT1_000087" "g.191850338C>T" "" "" "" "STAT1(NM_007315.3):c.1263+7G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992329" "0" "50" "2" "191855999" "191855999" "subst" "3.65503E-5" "01804" "STAT1_000115" "g.191855999C>T" "" "" "" "STAT1(NM_007315.3):c.992G>A (p.(Arg331Lys))" "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 STAT1 ## Count = 199 "{{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}}" "0000129627" "00020436" "95" "2117" "0" "2117" "0" "c.2117T>C" "r.(?)" "p.(Leu706Ser)" "23" "0000129628" "00020436" "95" "2117" "0" "2117" "0" "c.2117T>C" "r.(?)" "p.(Leu706Ser)" "23" "0000129629" "00020436" "99" "1760" "0" "1761" "0" "c.1760_1761del" "r.(?)" "p.(Glu587Alafs*18)" "21" "0000129630" "00020436" "97" "1799" "0" "1799" "0" "c.1799T>C" "r.(?)" "p.(Leu600Pro)" "21" "0000129631" "00020436" "99" "1927" "0" "1927" "0" "c.1927dup" "r.(?)" "p.(Thr643Asnfs*4)" "22" "0000129632" "00020436" "95" "958" "0" "958" "0" "c.958G>C" "r.(?)" "p.(Glu320Gln)" "11" "0000129633" "00020436" "95" "1389" "0" "1389" "0" "c.1389G>T" "r.(?)" "p.(Gln463His)" "17" "0000129634" "00020436" "97" "2086" "0" "2086" "0" "c.2086C>T" "r.[2060_2135del, 2086c>u]" "p.[Ala687Valfs*26, Pro696Ser]" "23" "0000129635" "00020436" "95" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129636" "00020436" "95" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129637" "00020436" "95" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129638" "00020436" "95" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129639" "00020436" "95" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129640" "00020436" "99" "603" "0" "603" "0" "c.603G>T" "r.[603g>u, 542_633del]" "p.[Lys201Asn, Glu181Glyfs*14]" "8" "0000129641" "00020436" "95" "632" "0" "632" "0" "c.632A>G" "r.542_633del" "p.Glu181Glyfs*14" "8" "0000129642" "00020436" "95" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129643" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129644" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129645" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129646" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129647" "00020436" "97" "857" "0" "857" "0" "c.857A>T" "r.(?)" "p.(Lys286Ile)" "10" "0000129648" "00020436" "97" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "8" "0000129649" "00020436" "97" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "8" "0000129650" "00020436" "95" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Cys174Arg)" "7" "0000129651" "00020436" "95" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129652" "00020436" "95" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129653" "00020436" "95" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129654" "00020436" "95" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asp165Gly)" "7" "0000129655" "00020436" "97" "862" "0" "862" "0" "c.862A>G" "r.(?)" "p.(Thr288Ala)" "10" "0000129656" "00020436" "97" "862" "0" "862" "0" "c.862A>G" "r.(?)" "p.(Thr288Ala)" "10" "0000129657" "00020436" "95" "508" "0" "508" "0" "c.508T>A" "r.(?)" "p.(Tyr170Asn)" "7" "0000129658" "00020436" "95" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Asp165His)" "7" "0000129659" "00020436" "97" "606" "0" "606" "0" "c.606G>H" "r.(?)" "p.(Met202Ile)" "8" "0000129660" "00020436" "95" "606" "0" "606" "0" "c.606G>H" "r.(?)" "p.(Met202Ile)" "8" "0000129661" "00020436" "97" "812" "0" "812" "0" "c.812A>C" "r.(?)" "p.(Gln271Pro)" "10" "0000129662" "00020436" "95" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129663" "00020436" "95" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129664" "00020436" "99" "372" "0" "372" "0" "c.372G>C" "r.274_372del" "p.Asp92_Gln124del" "5" "0000129665" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129666" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129667" "00020436" "97" "2018" "0" "2018" "0" "c.2018A>G" "r.(?)" "p.(Lys673Arg)" "22" "0000129668" "00020436" "97" "1909" "0" "1909" "0" "c.1909A>G" "r.(?)" "p.(Lys637Glu)" "22" "0000129669" "00020436" "97" "1961" "0" "1961" "0" "c.1961T>A" "r.(?)" "p.(Met654Lys)" "22" "0000129670" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129671" "00020436" "99" "2086" "0" "2086" "0" "c.2086C>T" "r.[2060_2135del, 2086c>u]" "p.[Ala687Valfs*26*, Pro696Ser]" "23" "0000129672" "00020436" "99" "2102" "0" "2102" "0" "c.2102A>G" "r.(?)" "p.(Tyr701Cys)" "23" "0000129673" "00020436" "99" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "8" "0000129674" "00020436" "99" "1057" "0" "1057" "0" "c.1057G>A" "r.(?)" "p.(Glu353Lys)" "12" "0000129675" "00020436" "99" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129676" "00020436" "99" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129677" "00020436" "99" "820" "0" "820" "0" "c.820C>G" "r.(?)" "p.(Arg274Gly)" "10" "0000129678" "00020436" "99" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Phe172Leu)" "7" "0000129679" "00020436" "99" "1211" "0" "1211" "0" "c.1211T>A" "r.(?)" "p.(Phe404Tyr)" "14" "0000129680" "00020436" "97" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Asn397Asp)" "14" "0000129681" "00020436" "99" "537" "0" "537" "0" "c.537C>A" "r.(?)" "p.(Asn179Lys)" "7" "0000129682" "00020436" "99" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129683" "00020436" "99" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129684" "00020436" "99" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129685" "00020436" "99" "854" "0" "854" "0" "c.854A>G" "r.(?)" "p.(Gln285Arg)" "10" "0000129686" "00020436" "99" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129687" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.Thr385Met" "14" "0000129688" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.Thr385Met" "14" "0000129689" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.Thr385Met" "14" "0000129690" "00020436" "97" "881" "0" "881" "0" "c.881T>C" "r.(?)" "p.Ile294Thr" "10" "0000129691" "00020436" "97" "970" "0" "970" "0" "c.970T>C" "r.(?)" "p.Cys324Arg" "11" "0000129692" "00020436" "97" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.Glu235Gly" "9" "0000129693" "00020436" "97" "1110" "0" "1110" "0" "c.1110G>C" "r.(?)" "p.Glu370Asp" "13" "0000129694" "00020436" "97" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129695" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129696" "00020436" "97" "863" "0" "863" "0" "c.863C>T" "r.(?)" "p.(Thr288Ile)" "10" "0000129697" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129698" "00020436" "97" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Thr387Ala)" "14" "0000129699" "00020436" "97" "894" "0" "894" "0" "c.894A>C" "r.(?)" "p.(Lys298Asn)" "10" "0000129700" "00020436" "97" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.Ala267Val" "10" "0000129701" "00020436" "97" "1199" "0" "1199" "0" "c.1199T>A" "r.(?)" "p.Leu400Gln" "14" "0000129702" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.Thr385Met" "14" "0000129703" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.Arg274Gln" "10" "0000129704" "00020436" "97" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.Arg274Trp" "10" "0000129705" "00020436" "97" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.Arg274Trp" "10" "0000129706" "00020436" "97" "832" "0" "832" "0" "c.832A>G" "r.(?)" "p.Lys278Glu" "10" "0000129707" "00020436" "97" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.Gly384Asp" "14" "0000129708" "00020436" "97" "1060" "0" "1060" "0" "c.1060C>A" "r.(?)" "p.(Leu354Met)" "12" "0000129709" "00020436" "97" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "8" "0000129710" "00020436" "97" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129711" "00020436" "97" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Pro329Leu)" "11" "0000129712" "00020436" "97" "1169" "0" "1169" "0" "c.1169T>C" "r.(?)" "p.(Met390Thr)" "14" "0000129713" "00020436" "97" "629" "0" "629" "0" "c.629G>T" "r.(?)" "p.(Arg210Ile)" "8" "0000129714" "00020436" "97" "1073" "0" "1073" "0" "c.1073T>G" "r.(?)" "p.(Leu358Trp)" "12" "0000129715" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129716" "00020436" "97" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Ile)" "10" "0000129717" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129718" "00020436" "97" "488" "0" "488" "0" "c.488T>G" "r.(?)" "p.(Leu163Arg)" "7" "0000129719" "00020436" "97" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(His629Tyr)" "22" "0000129720" "00020436" "97" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129721" "00020436" "97" "1074" "0" "1074" "0" "c.1074G>T" "r.(?)" "p.(Leu358Phe)" "12" "0000129722" "00020436" "97" "863" "0" "863" "0" "c.863C>T" "r.(?)" "p.(Thr288Ile)" "10" "0000129723" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129724" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129725" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129726" "00020436" "97" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Thr387Ala)" "14" "0000129727" "00020436" "97" "514" "0" "514" "0" "c.514T>C" "r.(?)" "p.(Phe172Leu)" "7" "0000129728" "00020436" "97" "604" "0" "604" "0" "c.604A>G" "r.(?)" "p.(Met202Val)" "8" "0000129729" "00020436" "97" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129730" "00020436" "97" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "10" "0000129731" "00020436" "97" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129732" "00020436" "97" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "10" "0000129733" "00020436" "97" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "10" "0000129734" "00020436" "97" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Pro293Ser)" "10" "0000129735" "00020436" "97" "1189" "0" "1189" "0" "c.1189A>G" "r.(?)" "p.(Asn397Asp)" "14" "0000129736" "00020436" "97" "1211" "0" "1211" "0" "c.1211T>A" "r.(?)" "p.(Phe404Tyr)" "14" "0000129737" "00020436" "97" "859" "0" "859" "0" "c.859T>G" "r.(?)" "p.(Tyr287Asp)" "10" "0000129738" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129739" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129740" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129741" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000129742" "00020436" "97" "1162" "0" "1162" "0" "c.1162A>G" "r.(?)" "p.(Lys388Glu)" "14" "0000129743" "00020436" "97" "1398" "0" "1398" "0" "c.1398C>G" "r.(?)" "p.(Ser466Arg)" "17" "0000129744" "00020436" "97" "1154" "0" "1154" "0" "c.1154C>A" "r.(?)" "p.(Thr385Lys)" "14" "0000129745" "00020436" "97" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Ala46Thr)" "4" "0000250815" "00020436" "30" "633" "6" "633" "6" "c.633+6T>A" "r.(=)" "p.(=)" "" "0000251268" "00020436" "10" "1446" "162" "1446" "162" "c.1446+162T>C" "r.(=)" "p.(=)" "" "0000252063" "00020436" "30" "1222" "-5" "1222" "-5" "c.1222-5T>C" "r.spl?" "p.?" "" "0000252064" "00020436" "30" "1222" "-14" "1222" "-14" "c.1222-14T>G" "r.(=)" "p.(=)" "" "0000254034" "00020436" "30" "633" "6" "633" "6" "c.633+6T>A" "r.(=)" "p.(=)" "" "0000313195" "00020436" "90" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "" "0000314158" "00020436" "70" "1162" "0" "1162" "0" "c.1162A>G" "r.(?)" "p.(Lys388Glu)" "" "0000314159" "00020436" "10" "1874" "-8" "1874" "-8" "c.1874-8C>T" "r.(=)" "p.(=)" "" "0000314160" "00020436" "70" "1973" "0" "1973" "0" "c.1973A>G" "r.(?)" "p.(Asn658Ser)" "" "0000314161" "00020436" "10" "2238" "17" "2238" "17" "c.2238+17G>T" "r.(=)" "p.(=)" "" "0000314162" "00020436" "90" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asp165Gly)" "" "0000314163" "00020436" "90" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "" "0000314164" "00020436" "90" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "" "0000314165" "00020436" "30" "944" "54" "944" "54" "c.944+54C>T" "r.(=)" "p.(=)" "" "0000315784" "00020436" "50" "1379" "0" "1379" "0" "c.1379A>T" "r.(?)" "p.(Asn460Ile)" "" "0000315785" "00020436" "30" "1872" "0" "1872" "0" "c.1872C>T" "r.(?)" "p.(Gly624=)" "" "0000315786" "00020436" "30" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Ile)" "" "0000315787" "00020436" "30" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Gln330=)" "" "0000337410" "00020436" "10" "1874" "-8" "1874" "-8" "c.1874-8C>T" "r.(=)" "p.(=)" "" "0000337411" "00020436" "30" "1128" "-33" "1128" "-33" "c.1128-33G>T" "r.(=)" "p.(=)" "" "0000341317" "00020436" "90" "800" "0" "800" "0" "c.800C>T" "r.(?)" "p.(Ala267Val)" "" "0000342239" "00020436" "90" "628" "0" "628" "0" "c.628A>G" "r.(?)" "p.(Arg210Gly)" "" "0000342505" "00020436" "70" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Trp)" "" "0000344011" "00020436" "90" "68" "0" "68" "0" "c.68A>T" "r.(?)" "p.(Asp23Val)" "" "0000344692" "00020436" "50" "727" "0" "727" "0" "c.727C>G" "r.(?)" "p.(Gln243Glu)" "" "0000344724" "00020436" "90" "812" "0" "812" "0" "c.812A>C" "r.(?)" "p.(Gln271Pro)" "" "0000345524" "00020436" "70" "2114" "0" "2114" "0" "c.2114A>T" "r.(?)" "p.(Glu705Val)" "" "0000347770" "00020436" "90" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Met202Thr)" "" "0000350026" "00020436" "50" "859" "0" "859" "0" "c.859T>A" "r.(?)" "p.(Tyr287Asn)" "" "0000513760" "00020436" "50" "1975" "0" "1986" "0" "c.1975_1986del" "r.(?)" "p.(Ile659_Asn662del)" "" "0000513761" "00020436" "50" "1957" "0" "1957" "0" "c.1957G>A" "r.(?)" "p.(Val653Ile)" "" "0000513762" "00020436" "30" "1765" "0" "1765" "0" "c.1765G>T" "r.(?)" "p.(Ala589Ser)" "" "0000513763" "00020436" "30" "1347" "8" "1347" "8" "c.1347+8T>G" "r.(=)" "p.(=)" "" "0000513764" "00020436" "30" "1347" "8" "1347" "8" "c.1347+8T>G" "r.(=)" "p.(=)" "" "0000513765" "00020436" "30" "1263" "7" "1263" "7" "c.1263+7G>A" "r.(=)" "p.(=)" "" "0000513766" "00020436" "10" "1263" "7" "1263" "7" "c.1263+7G>A" "r.(=)" "p.(=)" "" "0000513767" "00020436" "30" "1155" "0" "1155" "0" "c.1155G>A" "r.(?)" "p.(Thr385=)" "" "0000513768" "00020436" "10" "1097" "10" "1097" "10" "c.1097+10C>G" "r.(=)" "p.(=)" "" "0000513769" "00020436" "30" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(Gln330=)" "" "0000513770" "00020436" "90" "821" "0" "821" "0" "c.821G>A" "r.(?)" "p.(Arg274Gln)" "" "0000513771" "00020436" "30" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Ile)" "" "0000513772" "00020436" "50" "694" "0" "694" "0" "c.694A>G" "r.(?)" "p.(Ile232Val)" "" "0000513773" "00020436" "10" "634" "-16" "634" "-16" "c.634-16C>T" "r.(=)" "p.(=)" "" "0000513774" "00020436" "30" "633" "6" "633" "6" "c.633+6T>A" "r.(=)" "p.(=)" "" "0000607353" "00020436" "30" "1222" "-5" "1222" "-5" "c.1222-5T>C" "r.spl?" "p.?" "" "0000607354" "00020436" "10" "63" "0" "63" "0" "c.63T>C" "r.(?)" "p.(Leu21=)" "" "0000620911" "00020436" "50" "1233" "0" "1233" "0" "c.1233A>T" "r.(?)" "p.(Glu411Asp)" "" "0000620912" "00020436" "50" "1232" "0" "1232" "0" "c.1232A>T" "r.(?)" "p.(Glu411Val)" "" "0000620913" "00020436" "50" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Glu212Gly)" "" "0000654476" "00020436" "30" "1222" "-5" "1222" "-5" "c.1222-5T>C" "r.spl?" "p.?" "" "0000654477" "00020436" "30" "1222" "-5" "1222" "-5" "c.1222-5T>C" "r.spl?" "p.?" "" "0000718357" "00020436" "30" "1727" "12" "1727" "12" "c.1727+12C>T" "r.(=)" "p.(=)" "" "0000718358" "00020436" "70" "1216" "0" "1216" "0" "c.1216C>A" "r.(?)" "p.(His406Asn)" "" "0000800241" "00020436" "30" "2118" "0" "2118" "0" "c.2118G>A" "r.(?)" "p.(Leu706=)" "" "0000800242" "00020436" "30" "1248" "0" "1248" "0" "c.1248C>G" "r.(?)" "p.(Gly416=)" "" "0000800243" "00020436" "30" "1098" "-11" "1098" "-11" "c.1098-11T>A" "r.(=)" "p.(=)" "" "0000800244" "00020436" "30" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Ile)" "" "0000849627" "00020436" "30" "1245" "0" "1245" "0" "c.1245T>C" "r.(?)" "p.(Ala415=)" "" "0000858221" "00020436" "30" "1248" "0" "1248" "0" "c.1248C>G" "r.(?)" "p.(Gly416=)" "" "0000858222" "00020436" "30" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241Gln)" "" "0000884655" "00020436" "30" "1097" "10" "1097" "10" "c.1097+10C>G" "r.(=)" "p.(=)" "" "0000884656" "00020436" "30" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Val266Ile)" "" "0000911495" "00020436" "30" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241Gln)" "" "0000911496" "00020436" "50" "128" "3" "128" "3" "c.128+3A>G" "r.spl?" "p.?" "" "0000920254" "00020436" "50" "1627" "0" "1627" "0" "c.1627T>C" "r.(?)" "p.(Cys543Arg)" "19" "0000920263" "00020436" "90" "1154" "0" "1154" "0" "c.1154C>T" "r.(?)" "p.(Thr385Met)" "14" "0000920271" "00020436" "70" "1163" "0" "1163" "0" "c.1163A>G" "r.(?)" "p.(Lys388Arg)" "14" "0000920272" "00020436" "70" "2113" "0" "2113" "0" "c.2113G>C" "r.(?)" "p.(Glu705Gln)" "23" "0000923547" "00020436" "30" "541" "16" "541" "16" "c.541+16T>C" "r.(=)" "p.(=)" "" "0000923548" "00020436" "10" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Asn118=)" "" "0000928462" "00020436" "30" "2164" "0" "2164" "0" "c.2164A>C" "r.(?)" "p.(Asn722His)" "" "0000928463" "00020436" "30" "2019" "0" "2019" "0" "c.2019A>G" "r.(?)" "p.(=)" "" "0000947669" "00020436" "50" "1098" "-5" "1098" "-5" "c.1098-5dup" "r.spl?" "p.?" "" "0000974833" "00020436" "50" "2000" "0" "2000" "0" "c.2000T>C" "r.(?)" "p.(Leu667Pro)" "" "0000974834" "00020436" "30" "1127" "4" "1127" "4" "c.1127+4C>T" "r.spl?" "p.?" "" "0000974835" "00020436" "10" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Asn118=)" "" "0000992326" "00020436" "30" "2136" "0" "2136" "0" "c.2136T>G" "r.(?)" "p.(=)" "" "0000992327" "00020436" "50" "1705" "0" "1705" "0" "c.1705C>G" "r.(?)" "p.(Leu569Val)" "" "0000992328" "00020436" "30" "1263" "7" "1263" "7" "c.1263+7G>A" "r.(=)" "p.(=)" "" "0000992329" "00020436" "50" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Arg331Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 123 "{{screeningid}}" "{{variantid}}" "0000080665" "0000129627" "0000080666" "0000129628" "0000080667" "0000129629" "0000080668" "0000129630" "0000080669" "0000129631" "0000080670" "0000129632" "0000080671" "0000129633" "0000080672" "0000129634" "0000080673" "0000129635" "0000080674" "0000129636" "0000080675" "0000129637" "0000080676" "0000129638" "0000080677" "0000129639" "0000080678" "0000129640" "0000080679" "0000129641" "0000080679" "0000129745" "0000080680" "0000129642" "0000080681" "0000129643" "0000080682" "0000129644" "0000080683" "0000129645" "0000080684" "0000129646" "0000080685" "0000129647" "0000080686" "0000129648" "0000080687" "0000129649" "0000080688" "0000129650" "0000080689" "0000129651" "0000080690" "0000129652" "0000080691" "0000129653" "0000080692" "0000129654" "0000080693" "0000129655" "0000080694" "0000129656" "0000080695" "0000129657" "0000080696" "0000129658" "0000080697" "0000129659" "0000080698" "0000129660" "0000080699" "0000129661" "0000080700" "0000129662" "0000080701" "0000129663" "0000080702" "0000129664" "0000080703" "0000129665" "0000080704" "0000129666" "0000080705" "0000129667" "0000080706" "0000129668" "0000080707" "0000129669" "0000080708" "0000129670" "0000080709" "0000129671" "0000080710" "0000129672" "0000080711" "0000129673" "0000080712" "0000129674" "0000080713" "0000129675" "0000080714" "0000129676" "0000080715" "0000129677" "0000080716" "0000129678" "0000080717" "0000129679" "0000080718" "0000129680" "0000080719" "0000129681" "0000080720" "0000129682" "0000080721" "0000129683" "0000080722" "0000129684" "0000080723" "0000129685" "0000080724" "0000129686" "0000080725" "0000129687" "0000080726" "0000129688" "0000080727" "0000129689" "0000080728" "0000129690" "0000080729" "0000129691" "0000080730" "0000129692" "0000080731" "0000129693" "0000080732" "0000129694" "0000080733" "0000129695" "0000080734" "0000129696" "0000080735" "0000129697" "0000080736" "0000129698" "0000080737" "0000129699" "0000080738" "0000129700" "0000080739" "0000129701" "0000080740" "0000129702" "0000080741" "0000129703" "0000080742" "0000129704" "0000080743" "0000129705" "0000080744" "0000129706" "0000080745" "0000129707" "0000080746" "0000129708" "0000080747" "0000129709" "0000080748" "0000129710" "0000080749" "0000129711" "0000080750" "0000129712" "0000080751" "0000129713" "0000080752" "0000129714" "0000080753" "0000129715" "0000080754" "0000129716" "0000080755" "0000129717" "0000080756" "0000129718" "0000080757" "0000129719" "0000080758" "0000129720" "0000080759" "0000129721" "0000080760" "0000129722" "0000080761" "0000129723" "0000080762" "0000129724" "0000080763" "0000129725" "0000080764" "0000129726" "0000080765" "0000129727" "0000080766" "0000129728" "0000080767" "0000129729" "0000080768" "0000129730" "0000080769" "0000129731" "0000080770" "0000129732" "0000080771" "0000129733" "0000080772" "0000129734" "0000080773" "0000129735" "0000080774" "0000129736" "0000080775" "0000129737" "0000080776" "0000129738" "0000080777" "0000129739" "0000080778" "0000129740" "0000080779" "0000129741" "0000080780" "0000129742" "0000080781" "0000129743" "0000080782" "0000129744" "0000434497" "0000920254" "0000434508" "0000920263" "0000434516" "0000920271" "0000434517" "0000920272"