### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NCF2) # 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}}" "NCF2" "neutrophil cytosolic factor 2" "1" "q25" "unknown" "LRG_88" "UD_132085227086" "" "https://www.LOVD.nl/NCF2" "" "1" "7661" "4688" "608515" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NCF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-13 09:29:15" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014349" "NCF2" "transcript variant 1" "004" "NM_000433.3" "" "NP_000424.2" "" "" "" "-275" "2137" "1581" "183559739" "183524697" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01832" "CGD2" "granulomatous disease, chronic, due to deficiency of NCF-2, type 2" "AR" "233710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05349" "CGD" "granulomatous disease, chronic" "" "" "" "" "" "00006" "2017-11-24 16:14:58" "00006" "2023-02-13 16:42:42" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NCF2" "01832" "NCF2" "05349" ## Individuals ## Do not remove or alter this header ## ## Count = 109 "{{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}}" "00229607" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229608" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229609" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229610" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229611" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229612" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229613" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229614" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229615" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229616" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229617" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229618" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229619" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229620" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229621" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229622" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229623" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00229624" "" "" "" "1" "" "00233" "" "" "" "" "" "" "0" "" "" "" "" "00289610" "" "" "" "83" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289611" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289612" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308684" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00308685" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00384628" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "M" "yes" "Israel" "" "0" "" "" "" "Family 6 patient 1" "00415501" "" "" "" "1" "" "00006" "{PMID:Kannengiesser 2008:18546332}, {DOI:Kannengiesser 2008:10.1002/humu.20820}" "" "" "" "France" "" "0" "" "" "" "" "00415502" "" "" "" "1" "" "00006" "{PMID:Kannengiesser 2008:18546332}, {DOI:Kannengiesser 2008:10.1002/humu.20820}" "" "" "" "France" "" "0" "" "" "" "" "00415503" "" "" "" "1" "" "00006" "{PMID:Kannengiesser 2008:18546332}, {DOI:Kannengiesser 2008:10.1002/humu.20820}" "" "" "" "France" "" "0" "" "" "" "" "00415515" "" "" "" "4" "" "00006" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "2-generation family, 4 affected (2F, 2M)" "M" "yes" "Israel" "" "0" "" "" "Arab" "FamPat20" "00415516" "" "" "00415515" "1" "" "00006" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "sib" "M" "yes" "Israel" "" "0" "" "" "Arab" "FamPat21" "00415517" "" "" "00415515" "1" "" "00006" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "cousin" "F" "yes" "Israel" "" "0" "" "" "Arab" "FamPat22" "00415518" "" "" "00415515" "1" "" "00006" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "cousin" "F" "yes" "Israel" "" "0" "" "" "Arab" "FamPat23" "00431636" "" "" "" "6" "" "00006" "{PMID:Vignesh 2021:33259975}, {PMID:Rawat 2021:33717137}" "5-generation family, 6 affected (5F, M)" "F;M" "" "India" "" "0" "" "" "" "FamPat5;NCF2-Pat1" "00431743" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat2" "00431744" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat3" "00431745" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat4" "00431746" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat5" "00431747" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat6" "00431748" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat7" "00431749" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat8" "00431750" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat9" "00431751" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat10" "00431752" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat11" "00431753" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat12" "00431754" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat13" "00431755" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat14" "00431756" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat15" "00431757" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat16" "00431758" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat17" "00431759" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat18" "00431760" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat19" "00431761" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat20" "00431762" "" "" "" "1" "" "00006" "{PMID:Rawat 2021:33717137}" "patient" "" "" "India" "" "0" "" "" "" "NCF2-Pat21" "00431898" "" "" "" "1" "" "00006" "{PMID:Kulkarni 2018:30470980}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "Pat43" "00431899" "" "" "" "1" "" "00006" "{PMID:Kulkarni 2018:30470980}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "India" "" "0" "" "" "" "Pat51" "00431900" "" "" "" "1" "" "00006" "{PMID:Kulkarni 2018:30470980}" "patient" "F" "" "India" "" "0" "" "" "" "Pat60" "00431901" "" "" "" "1" "" "00006" "{PMID:Kulkarni 2018:30470980}" "patient" "M" "" "India" "" "0" "" "" "" "Pat77" "00431902" "" "" "" "1" "" "00006" "{PMID:Kulkarni 2018:30470980}" "patient" "F" "" "India" "" "0" "" "" "" "Pat92" "00431903" "" "" "" "1" "" "00006" "{PMID:Kulkarni 2018:30470980}" "patient" "M" "" "India" "" "0" "" "" "" "Pat117" "00432127" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31456102}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "" "Pat75" "00432128" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31456102}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "" "Pat76" "00432153" "" "" "" "1" "" "00006" "{PMID:Ying 2014:24722620}, {PMID:Wu 2017:28251166}" "" "" "" "China" "" "0" "" "" "" "Pat136" "00432154" "" "" "" "1" "" "00006" "{PMID:Ying 2014:24722620}, {PMID:Wu 2017:28251166}" "" "" "" "China" "" "0" "" "" "" "Pat137" "00432178" "" "" "" "1" "" "00006" "{PMID:Wu 2017:28251166}" "" "M" "" "China" "" "0" "" "" "" "Pat43" "00432252" "" "" "" "1" "" "00006" "{PMID:Gentsch 2010:19953534}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Pakistan" "" "0" "" "" "" "Fam4Pat5" "00432253" "" "" "" "2" "" "00006" "{PMID:Gentsch 2010:19953534}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "Lebanon" "" "0" "" "" "" "Fam1Pat1/2" "00432254" "" "" "" "1" "" "00006" "{PMID:Gentsch 2010:19953534}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Lebanon" "" "0" "" "" "" "Fam2Pat3" "00432255" "" "" "" "1" "" "00006" "{PMID:Gentsch 2010:19953534}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Lebanon" "" "0" "" "" "" "Fam3Pat4" "00432306" "" "" "" "1" "" "00006" "{PMID:Li 2019:30761141}" "" "" "" "China" "" "0" "" "" "" "Pat15(N0169)" "00432330" "" "" "" "1" "" "00006" "{PMID:Raptaki 2013:24081483}" "" "M" "" "Greece" "" "0" "" "" "" "PatV" "00432331" "" "" "" "2" "" "00006" "{PMID:Raptaki 2013:24081483}" "2-generation family, 2 affected, unaffected parents" "M" "" "Greece" "" "0" "" "" "" "PatW" "00432332" "" "" "00432331" "1" "" "00006" "{PMID:Raptaki 2013:24081483}" "relative" "M" "" "Greece" "14y" "0" "" "" "" "PatX" "00432345" "" "" "" "1" "" "00006" "{PMID:Beghin 2018:29223406}" "" "F" "" "Italy" "" "0" "" "" "" "Pat14" "00432349" "" "" "" "1" "" "00006" "{PMID:Kutukculer 2019:30506560}" "" "" "" "Turkey" "" "0" "" "" "" "Pat3" "00432521" "" "" "" "8" "" "00006" "{PMID:Wolach 2017:27701760}" "4 families, 8 affected" "" "" "Israel" "" "0" "" "" "" "" "00432522" "" "" "" "8" "" "00006" "{PMID:Wolach 2017:27701760}" "family, 8 affected" "" "" "Israel" "" "0" "" "" "" "" "00432523" "" "" "" "2" "" "00006" "{PMID:Wolach 2017:27701760}" "family, 2 affected" "" "" "Israel" "" "0" "" "" "" "" "00432524" "" "" "" "14" "" "00006" "{PMID:Wolach 2017:27701760}" "5 families, 14 affected" "" "" "Israel" "" "0" "" "" "" "" "00432713" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29560547}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "China" "" "0" "" "" "" "Pat163" "00432714" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29560547}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "China" "" "0" "" "" "" "Pat164" "00432715" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29560547}" "" "" "" "China" "" "0" "" "" "" "Pat165" "00432716" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29560547}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "China" "" "0" "" "" "" "Pat166" "00432717" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29560547}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "China" "" "0" "" "" "" "Pat167" "00432718" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29560547}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "China" "" "0" "" "" "" "Pat168" "00432719" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29560547}" "2-generation family, 1 affected, unaffected carrier mother" "" "" "China" "" "0" "" "" "" "Pat169" "00432863" "" "" "" "1" "" "00006" "{PMID:Gao 2019:30716179}" "2-generation family, 1 affected, unaffected parents" "" "" "China" "" "0" "" "" "" "PatB12" "00432864" "" "" "" "1" "" "00006" "{PMID:Gao 2019:30716179}" "2-generation family, 1 affected, unaffected parents" "" "" "China" "" "0" "" "" "" "PatB13" "00432865" "" "" "" "1" "" "00006" "{PMID:Gao 2019:30716179}" "2-generation family, 1 affected, unaffected parents" "" "" "China" "" "0" "" "" "" "PatB14" "00432866" "" "" "" "1" "" "00006" "{PMID:Gao 2019:30716179}" "2-generation family, 1 affected, unaffected parents" "" "" "China" "" "0" "" "" "" "PatB15" "00433026" "" "" "" "1" "" "00006" "{PMID:Martel 2012:22562447}" "2-generation family, heterozygous carrier parents" "" "" "France" "" "0" "" "" "" "Pat22" "00433305" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "M" "" "Turkey" "" "0" "" "" "" "FamD1Pat1" "00433306" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD2Pat2" "00433307" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD3Pat3" "00433308" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD4Pat4" "00433309" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD5Pat5" "00433310" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "M" "" "Turkey" "" "0" "" "" "" "FamD6Pat6" "00433311" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD7Pat7" "00433312" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD8Pat8" "00433313" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD9Pat9" "00433314" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "M" "" "Turkey" "" "0" "" "" "" "FamD10Pat10" "00433315" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "M" "" "Turkey" "" "0" "" "" "" "FamD11Pat11" "00433316" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "F" "" "Turkey" "" "0" "" "" "" "FamD12Pat12" "00433317" "" "" "" "1" "" "00006" "{PMID:Koker 2013:23910690}" "" "M" "" "Turkey" "" "0" "" "" "" "FamD13Pat13" "00433465" "" "" "" "1" "" "00006" "{PMID:Aygun 2020:32512560}" "2-generation family, 1 affected" "F" "yes" "Turkey" "" "0" "" "" "" "Fam14Pat23" "00433466" "" "" "" "1" "" "00006" "{PMID:Aygun 2020:32512560}" "2-generation family, 1 affected" "M" "yes" "Turkey" "" "0" "" "" "" "Fam15Pat24" "00433467" "" "" "" "1" "" "00006" "{PMID:Aygun 2020:32512560}" "2-generation family, 1 affected" "F" "yes" "Turkey" "" "0" "" "" "" "Fam16Pat25" "00433473" "" "" "" "1" "" "00006" "{PMID:Aygun 2020:32512560}" "2-generation family, 1 affected" "F" "yes" "Turkey" "" "0" "" "" "" "Fam22Pat31" "00433494" "" "" "" "1" "" "00006" "{PMID:Bakri 2009:18773283}" "3-generation family, 1 affected, unaffected carrier parents/relatives" "M" "yes" "Jordan" "" "0" "" "" "" "FamC" "00433495" "" "" "" "1" "" "00006" "{PMID:Bakri 2009:18773283}" "4-generation family, 1 affected, unaffected carrier parents/relatives" "F" "yes" "Jordan" "" "0" "" "" "" "FamF" "00433496" "" "" "" "1" "" "00006" "{PMID:Bakri 2009:18773283}" "3-generation family, 2 affected brothers, unaffected carrier parents/relatives" "M" "yes" "Jordan" "" "0" "" "" "" "FamF" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 109 "{{individualid}}" "{{diseaseid}}" "00229607" "01832" "00229608" "01832" "00229609" "01832" "00229610" "01832" "00229611" "01832" "00229612" "01832" "00229613" "00000" "00229614" "01832" "00229615" "01832" "00229616" "01832" "00229617" "01832" "00229618" "01832" "00229619" "01832" "00229620" "01832" "00229621" "01832" "00229622" "01832" "00229623" "00000" "00229624" "00000" "00289610" "00198" "00289611" "00198" "00289612" "00198" "00308684" "00000" "00308685" "00000" "00384628" "00198" "00415501" "05349" "00415502" "05349" "00415503" "05349" "00415515" "05349" "00415516" "05349" "00415517" "05349" "00415518" "05349" "00431636" "05349" "00431743" "05349" "00431744" "05349" "00431745" "05349" "00431746" "05349" "00431747" "05349" "00431748" "05349" "00431749" "05349" "00431750" "05349" "00431751" "05349" "00431752" "05349" "00431753" "05349" "00431754" "05349" "00431755" "05349" "00431756" "05349" "00431757" "05349" "00431758" "05349" "00431759" "05349" "00431760" "05349" "00431761" "05349" "00431762" "05349" "00431898" "05349" "00431899" "05349" "00431900" "05349" "00431901" "05349" "00431902" "05349" "00431903" "05349" "00432127" "05349" "00432128" "05349" "00432153" "05349" "00432154" "05349" "00432178" "05349" "00432252" "05349" "00432253" "05349" "00432254" "05349" "00432255" "05349" "00432306" "05349" "00432330" "05349" "00432331" "05349" "00432332" "05349" "00432345" "05349" "00432349" "05349" "00432521" "05349" "00432522" "05349" "00432523" "05349" "00432524" "05349" "00432713" "05349" "00432714" "05349" "00432715" "05349" "00432716" "05349" "00432717" "05349" "00432718" "05349" "00432719" "05349" "00432863" "05349" "00432864" "05349" "00432865" "05349" "00432866" "05349" "00433026" "05349" "00433305" "05349" "00433306" "05349" "00433307" "05349" "00433308" "05349" "00433309" "05349" "00433310" "05349" "00433311" "05349" "00433312" "05349" "00433313" "05349" "00433314" "05349" "00433315" "05349" "00433316" "05349" "00433317" "05349" "00433465" "05349" "00433466" "05349" "00433467" "05349" "00433473" "05349" "00433494" "05349" "00433495" "05349" "00433496" "05349" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01832, 05349 ## Count = 85 "{{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}}" "0000278418" "00198" "00384628" "00000" "Unknown" "" "Retinitis pigmentosa (?) and chronic granulomatous disease (AR)" "" "" "" "" "" "" "" "" "Mixed" "Chronic granulomatous disease and retinitis pigmentosa (contiguous gene deletion syndrome, McLeod phenotype)" "" "0000307292" "05349" "00415501" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000307293" "05349" "00415502" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000307294" "05349" "00415503" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000307300" "05349" "00415515" "00006" "Familial, autosomal recessive" "3m" "see paper; ..." "1m" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000307301" "05349" "00415516" "00006" "Familial, autosomal recessive" "21d" "see paper; ..." "21d" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000307302" "05349" "00415517" "00006" "Familial, autosomal recessive" "4y6m" "see paper; ..." "7m" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000307303" "05349" "00415518" "00006" "Familial, autosomal recessive" "2m" "see paper; ..." "1m" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000322311" "05349" "00431743" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322312" "05349" "00431744" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322313" "05349" "00431745" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322314" "05349" "00431746" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322315" "05349" "00431747" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322316" "05349" "00431748" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322317" "05349" "00431749" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322318" "05349" "00431750" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322319" "05349" "00431751" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322320" "05349" "00431752" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322321" "05349" "00431753" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322322" "05349" "00431754" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322323" "05349" "00431755" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322324" "05349" "00431756" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322325" "05349" "00431757" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322326" "05349" "00431758" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322327" "05349" "00431759" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322328" "05349" "00431760" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322329" "05349" "00431761" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322330" "05349" "00431762" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322467" "05349" "00431898" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322468" "05349" "00431899" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322469" "05349" "00431900" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322470" "05349" "00431901" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322471" "05349" "00431902" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322472" "05349" "00431903" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322694" "05349" "00432127" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322695" "05349" "00432128" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322720" "05349" "00432153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322721" "05349" "00432154" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322745" "05349" "00432178" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322819" "05349" "00432252" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000322820" "05349" "00432253" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000322821" "05349" "00432254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000322822" "05349" "00432255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000322874" "05349" "00432306" "00006" "Familial, autosomal recessive" "" "see paper; ..., alive, stopped anti-BCG treatment)" "" "" "" "" "" "" "" "" "CGD1" "chronic granulomatous diseas" "" "0000322898" "05349" "00432330" "00006" "Familial, autosomal recessive" "1.8y" "Otitis media, adenophlegmon- Candida parapsilosis, lymphadenitis" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322899" "05349" "00432331" "00006" "Familial, autosomal recessive" "2.5y" "Pneumonia aspergillosis, gastroenteritis salmonellosis" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322900" "05349" "00432332" "00006" "Familial, autosomal recessive" "3y" "14y-died; pneumonia (aspergillosis), cervical lymphadenitis, hepatic abscess, sternal & vertebral osteomyelitis (aspergillosis), cervical and submaxillary lymphadenitis, septicaemia" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322913" "05349" "00432345" "00006" "Familial, autosomal recessive" "27m" "pneumonia, cardiomyopathy" "9m" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000322916" "05349" "00432349" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000323083" "05349" "00432521" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000323084" "05349" "00432522" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000323085" "05349" "00432523" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000323086" "05349" "00432524" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous diseas" "" "0000323275" "05349" "00432713" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323276" "05349" "00432714" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323277" "05349" "00432715" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323278" "05349" "00432716" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323279" "05349" "00432717" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323280" "05349" "00432718" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323281" "05349" "00432719" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323425" "05349" "00432863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323426" "05349" "00432864" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323427" "05349" "00432865" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323428" "05349" "00432866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323558" "05349" "00433026" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323826" "05349" "00433305" "00006" "Familial, autosomal recessive" "" "" "" "<1y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323827" "05349" "00433306" "00006" "Familial, autosomal recessive" "" "" "" "2y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323828" "05349" "00433307" "00006" "Familial, autosomal recessive" "" "" "" "4y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323829" "05349" "00433308" "00006" "Familial, autosomal recessive" "" "" "" "2y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323830" "05349" "00433309" "00006" "Familial, autosomal recessive" "" "" "" "3y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323831" "05349" "00433310" "00006" "Familial, autosomal recessive" "" "" "" "<1y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323832" "05349" "00433311" "00006" "Familial, autosomal recessive" "" "" "" "17y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323833" "05349" "00433312" "00006" "Familial, autosomal recessive" "" "" "" "5y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323834" "05349" "00433313" "00006" "Familial, autosomal recessive" "" "" "" "2y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323835" "05349" "00433314" "00006" "Familial, autosomal recessive" "" "" "" "5y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323836" "05349" "00433315" "00006" "Familial, autosomal recessive" "" "" "" "<1y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323837" "05349" "00433316" "00006" "Familial, autosomal recessive" "" "" "" "2y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323838" "05349" "00433317" "00006" "Familial, autosomal recessive" "" "" "" "1y" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323941" "05349" "00433465" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323942" "05349" "00433466" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323943" "05349" "00433467" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CGD4" "chronic granulomatous disease" "" "0000323949" "05349" "00433473" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323957" "05349" "00433494" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323958" "05349" "00433495" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" "0000323959" "05349" "00433496" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CGD2" "chronic granulomatous disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 109 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000230700" "00229607" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230701" "00229608" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230702" "00229609" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230703" "00229610" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230704" "00229611" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230705" "00229612" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230706" "00229613" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230707" "00229614" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230708" "00229615" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230709" "00229616" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230710" "00229617" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230711" "00229618" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230712" "00229619" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230713" "00229620" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230714" "00229621" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230715" "00229622" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230716" "00229623" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000230717" "00229624" "1" "00233" "00233" "2012-03-01 11:16:54" "" "" "SEQ" "DNA" "" "" "0000290778" "00289610" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290779" "00289611" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290780" "00289612" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309829" "00308684" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000309830" "00308685" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000385856" "00384628" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000416782" "00415501" "1" "00006" "00006" "2022-08-14 15:26:58" "" "" "SEQ" "DNA" "" "" "0000416783" "00415502" "1" "00006" "00006" "2022-08-14 15:26:58" "" "" "SEQ" "DNA" "" "" "0000416784" "00415503" "1" "00006" "00006" "2022-08-14 15:26:58" "" "" "SEQ" "DNA" "" "" "0000416796" "00415515" "1" "00006" "00006" "2022-08-14 17:07:06" "" "" "SEQ" "DNA" "" "" "0000416797" "00415516" "1" "00006" "00006" "2022-08-14 17:07:06" "" "" "SEQ" "DNA" "" "" "0000416798" "00415517" "1" "00006" "00006" "2022-08-14 17:07:06" "" "" "SEQ" "DNA" "" "" "0000416799" "00415518" "1" "00006" "00006" "2022-08-14 17:07:06" "" "" "SEQ" "DNA" "" "" "0000433069" "00431636" "1" "00006" "00006" "2023-02-15 17:35:49" "" "" "SEQ" "DNA" "" "" "0000433176" "00431743" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433177" "00431744" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433178" "00431745" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433179" "00431746" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433180" "00431747" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433181" "00431748" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433182" "00431749" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433183" "00431750" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433184" "00431751" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433185" "00431752" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433186" "00431753" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433187" "00431754" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433188" "00431755" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433189" "00431756" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433190" "00431757" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433191" "00431758" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433192" "00431759" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433193" "00431760" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433194" "00431761" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433195" "00431762" "1" "00006" "00006" "2023-02-16 09:59:05" "" "" "SEQ" "DNA" "" "" "0000433339" "00431898" "1" "00006" "00006" "2023-02-17 16:20:37" "" "" "SEQ" "DNA" "" "" "0000433340" "00431899" "1" "00006" "00006" "2023-02-17 16:20:37" "" "" "SEQ" "DNA" "" "" "0000433341" "00431900" "1" "00006" "00006" "2023-02-17 16:20:37" "" "" "SEQ" "DNA" "" "" "0000433342" "00431901" "1" "00006" "00006" "2023-02-17 16:20:37" "" "" "SEQ" "DNA" "" "" "0000433343" "00431902" "1" "00006" "00006" "2023-02-17 16:20:37" "" "" "SEQ" "DNA" "" "" "0000433344" "00431903" "1" "00006" "00006" "2023-02-17 16:20:37" "" "" "SEQ" "DNA" "" "" "0000433567" "00432127" "1" "00006" "00006" "2023-02-20 12:57:46" "" "" "SEQ" "DNA" "" "" "0000433568" "00432128" "1" "00006" "00006" "2023-02-20 12:57:46" "" "" "SEQ" "DNA" "" "" "0000433593" "00432153" "1" "00006" "00006" "2023-02-20 12:57:46" "" "" "SEQ" "DNA" "" "" "0000433594" "00432154" "1" "00006" "00006" "2023-02-20 12:57:46" "" "" "SEQ" "DNA" "" "" "0000433618" "00432178" "1" "00006" "00006" "2023-02-20 12:57:46" "" "" "SEQ" "DNA" "" "" "0000433692" "00432252" "1" "00006" "00006" "2023-02-20 18:25:02" "" "" "PCR;SEQ" "DNA" "" "" "0000433693" "00432253" "1" "00006" "00006" "2023-02-20 18:28:49" "00006" "2023-02-20 18:32:57" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000433694" "00432254" "1" "00006" "00006" "2023-02-20 18:28:49" "" "" "PCR;SEQ" "DNA" "" "" "0000433695" "00432255" "1" "00006" "00006" "2023-02-20 18:28:49" "" "" "PCR;SEQ" "DNA" "" "" "0000433746" "00432306" "1" "00006" "00006" "2023-02-21 19:31:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433770" "00432330" "1" "00006" "00006" "2023-02-21 21:00:41" "" "" "SEQ" "DNA" "" "" "0000433771" "00432331" "1" "00006" "00006" "2023-02-21 21:00:41" "" "" "SEQ" "DNA" "" "" "0000433772" "00432332" "1" "00006" "00006" "2023-02-21 21:00:41" "" "" "SEQ" "DNA" "" "" "0000433785" "00432345" "1" "00006" "00006" "2023-02-21 21:57:45" "" "" "SEQ" "DNA" "" "" "0000433789" "00432349" "1" "00006" "00006" "2023-02-22 10:53:34" "" "" "SEQ" "DNA" "" "" "0000433963" "00432521" "1" "00006" "00006" "2023-02-23 14:46:43" "" "" "SEQ" "DNA" "" "" "0000433964" "00432522" "1" "00006" "00006" "2023-02-23 14:46:43" "" "" "SEQ" "DNA" "" "" "0000433965" "00432523" "1" "00006" "00006" "2023-02-23 14:46:43" "" "" "SEQ" "DNA" "" "" "0000433966" "00432524" "1" "00006" "00006" "2023-02-23 14:46:43" "" "" "SEQ" "DNA" "" "" "0000434155" "00432713" "1" "00006" "00006" "2023-02-26 12:07:05" "" "" "SEQ;SSCA" "DNA" "" "" "0000434156" "00432714" "1" "00006" "00006" "2023-02-26 12:07:05" "" "" "SEQ;SSCA" "DNA" "" "" "0000434157" "00432715" "1" "00006" "00006" "2023-02-26 12:07:05" "" "" "SEQ;SSCA" "DNA" "" "" "0000434158" "00432716" "1" "00006" "00006" "2023-02-26 12:07:05" "" "" "SEQ;SSCA" "DNA" "" "" "0000434159" "00432717" "1" "00006" "00006" "2023-02-26 12:07:05" "" "" "SEQ;SSCA" "DNA" "" "" "0000434160" "00432718" "1" "00006" "00006" "2023-02-26 12:07:05" "" "" "SEQ;SSCA" "DNA" "" "" "0000434161" "00432719" "1" "00006" "00006" "2023-02-26 12:07:05" "" "" "SEQ;SSCA" "DNA" "" "" "0000434305" "00432863" "1" "00006" "00006" "2023-02-26 14:58:31" "" "" "SEQ" "DNA" "" "" "0000434306" "00432864" "1" "00006" "00006" "2023-02-26 14:58:31" "" "" "SEQ" "DNA" "" "" "0000434307" "00432865" "1" "00006" "00006" "2023-02-26 14:58:31" "" "" "SEQ" "DNA" "" "" "0000434308" "00432866" "1" "00006" "00006" "2023-02-26 14:58:31" "" "" "SEQ" "DNA" "" "" "0000434455" "00433026" "1" "00006" "00006" "2023-02-28 09:43:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000434759" "00433305" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434760" "00433306" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434761" "00433307" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434762" "00433308" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434763" "00433309" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434764" "00433310" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434765" "00433311" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434766" "00433312" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434767" "00433313" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434768" "00433314" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434769" "00433315" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434770" "00433316" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434771" "00433317" "1" "00006" "00006" "2023-03-03 19:10:31" "" "" "SEQ" "DNA" "" "" "0000434920" "00433465" "1" "00006" "00006" "2023-03-09 19:05:46" "" "" "SEQ" "DNA" "" "" "0000434921" "00433466" "1" "00006" "00006" "2023-03-09 19:05:46" "" "" "SEQ" "DNA" "" "" "0000434922" "00433467" "1" "00006" "00006" "2023-03-09 19:05:46" "" "" "SEQ" "DNA" "" "" "0000434928" "00433473" "1" "00006" "00006" "2023-03-09 19:05:46" "" "" "SEQ" "DNA" "" "" "0000434949" "00433494" "1" "00006" "00006" "2023-03-10 11:03:23" "" "" "SEQ" "DNA" "" "" "0000434950" "00433495" "1" "00006" "00006" "2023-03-10 11:03:23" "" "" "SEQ" "DNA" "" "" "0000434951" "00433496" "1" "00006" "00006" "2023-03-10 11:03:23" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 106 "{{screeningid}}" "{{geneid}}" "0000230700" "NCF2" "0000230701" "NCF2" "0000230702" "NCF2" "0000230703" "NCF2" "0000230704" "NCF2" "0000230705" "NCF2" "0000230706" "NCF2" "0000230707" "NCF2" "0000230708" "NCF2" "0000230709" "NCF2" "0000230710" "NCF2" "0000230711" "NCF2" "0000230712" "NCF2" "0000230713" "NCF2" "0000230714" "NCF2" "0000230715" "NCF2" "0000230716" "NCF2" "0000230717" "NCF2" "0000309829" "NCF2" "0000309830" "NCF2" "0000385856" "NCF2" "0000416782" "NCF2" "0000416783" "NCF2" "0000416784" "NCF2" "0000416796" "NCF2" "0000416797" "NCF2" "0000416798" "NCF2" "0000416799" "NCF2" "0000433069" "NCF2" "0000433176" "NCF2" "0000433177" "NCF2" "0000433178" "NCF2" "0000433179" "NCF2" "0000433180" "NCF2" "0000433181" "NCF2" "0000433182" "NCF2" "0000433183" "NCF2" "0000433184" "NCF2" "0000433185" "NCF2" "0000433186" "NCF2" "0000433187" "NCF2" "0000433188" "NCF2" "0000433189" "NCF2" "0000433190" "NCF2" "0000433191" "NCF2" "0000433192" "NCF2" "0000433193" "NCF2" "0000433194" "NCF2" "0000433195" "NCF2" "0000433339" "NCF2" "0000433340" "NCF2" "0000433341" "NCF2" "0000433342" "NCF2" "0000433343" "NCF2" "0000433344" "NCF2" "0000433567" "NCF2" "0000433568" "NCF2" "0000433593" "NCF2" "0000433594" "NCF2" "0000433618" "NCF2" "0000433692" "NCF2" "0000433693" "NCF2" "0000433694" "NCF2" "0000433695" "NCF2" "0000433746" "NCF1" "0000433770" "NCF2" "0000433771" "NCF2" "0000433772" "NCF2" "0000433785" "NCF2" "0000433789" "NCF2" "0000433963" "NCF2" "0000433964" "NCF2" "0000433965" "NCF2" "0000433966" "NCF2" "0000434155" "NCF2" "0000434156" "NCF2" "0000434157" "NCF2" "0000434158" "NCF2" "0000434159" "NCF2" "0000434160" "NCF2" "0000434161" "NCF2" "0000434305" "NCF2" "0000434306" "NCF2" "0000434307" "NCF2" "0000434308" "NCF2" "0000434455" "NCF2" "0000434759" "NCF2" "0000434760" "NCF2" "0000434761" "NCF2" "0000434762" "NCF2" "0000434763" "NCF2" "0000434764" "NCF2" "0000434765" "NCF2" "0000434766" "NCF2" "0000434767" "NCF2" "0000434768" "NCF2" "0000434769" "NCF2" "0000434770" "NCF2" "0000434771" "CYBB" "0000434920" "NCF2" "0000434921" "NCF2" "0000434922" "CYBA" "0000434928" "NCF2" "0000434949" "NCF2" "0000434950" "NCF2" "0000434951" "NCF2" ## 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 = 187 "{{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}}" "0000251198" "0" "10" "1" "183533175" "183533175" "subst" "0.0122014" "02326" "NCF2_000024" "g.183533175A>C" "" "" "" "NCF2(NM_000433.3):c.1001-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183564040A>C" "" "benign" "" "0000296335" "0" "10" "1" "183542387" "183542387" "subst" "0.498753" "02325" "NCF2_000027" "g.183542387T>C" "" "" "" "NCF2(NM_000433.4):c.542A>G (p.K181R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183573252T>C" "" "benign" "" "0000299909" "0" "30" "1" "183559358" "183559358" "subst" "0" "02326" "NCF2_000030" "g.183559358T>G" "" "" "" "NCF2(NM_000433.3):c.107A>C (p.H36P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183590223T>G" "" "likely benign" "" "0000299910" "0" "30" "1" "183532580" "183532580" "subst" "0.0344495" "02326" "NCF2_000023" "g.183532580G>T" "" "" "" "NCF2(NM_000433.3):c.1167C>A (p.H389Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183563445G>T" "" "likely benign" "" "0000299911" "0" "30" "1" "183532436" "183532436" "subst" "0.00111727" "02326" "NCF2_000022" "g.183532436C>T" "" "" "" "NCF2(NM_000433.3):c.1184G>A (p.R395Q), NCF2(NM_001127651.3):c.1184G>A (p.R395Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183563301C>T" "" "likely benign" "" "0000299912" "0" "10" "1" "183532364" "183532364" "subst" "0.00549352" "02326" "NCF2_000021" "g.183532364T>A" "" "" "" "NCF2(NM_000433.3):c.1256A>T (p.N419I), NCF2(NM_000433.4):c.1256A>T (p.N419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183563229T>A" "" "benign" "" "0000299913" "0" "30" "1" "183559283" "183559283" "subst" "0.00152533" "02326" "NCF2_000029" "g.183559283C>G" "" "" "" "NCF2(NM_001127651.3):c.174+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183590148C>G" "" "likely benign" "" "0000299914" "0" "30" "1" "183543653" "183543653" "subst" "0" "02326" "NCF2_000028" "g.183543653G>A" "" "" "" "NCF2(NM_001127651.3):c.470C>T (p.S157F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183574518G>A" "" "likely benign" "" "0000299915" "0" "90" "1" "183536417" "183536417" "del" "0" "02326" "NCF2_000026" "g.183536417del" "" "" "" "NCF2(NM_000433.3):c.778delC (p.Q260Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183567282del" "" "pathogenic" "" "0000302921" "0" "10" "1" "183536358" "183536358" "subst" "0.00213874" "01943" "NCF2_000025" "g.183536358G>A" "" "" "" "NCF2(NM_000433.3):c.836C>T (p.T279M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183567223G>A" "" "benign" "" "0000302922" "0" "30" "1" "183559372" "183559372" "subst" "0.000121827" "01943" "NCF2_000031" "g.183559372G>A" "" "" "" "NCF2(NM_000433.3):c.93C>T (p.A31=), NCF2(NM_001127651.3):c.93C>T (p.A31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183590237G>A" "" "likely benign" "" "0000350030" "0" "90" "1" "183536100" "183536100" "subst" "0" "02327" "NCF2_000032" "g.183536100G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183566965G>C" "" "pathogenic" "" "0000472288" "0" "95" "1" "183559340" "183559340" "subst" "0" "00233" "NCF2_000009" "g.183559340T>C" "" "{PMID:Roos et al (2010):20167518}" "" "" "submitted through SIB; {EXP:065002}" "Unknown" "" "" "0" "" "" "g.183590205T>C" "" "pathogenic" "" "0000472289" "0" "95" "1" "183559335" "183559335" "subst" "0" "00233" "NCF2_000004" "g.183559335C>G" "" "{PMID:Yu et al (2008):18625437}" "" "" "submitted through SIB; {EXP:065004}" "Unknown" "" "" "0" "" "" "g.183590200C>G" "" "pathogenic" "" "0000472290" "0" "95" "1" "183559335" "183559335" "subst" "0" "00233" "NCF2_000005" "g.183559335C>G" "" "{PMID:Cross et al (2000):11112388}" "" "" "submitted through SIB; {EXP:065004}" "Unknown" "" "" "0" "" "" "g.183590200C>G" "" "pathogenic" "" "0000472291" "0" "95" "1" "183559335" "183559335" "subst" "0" "00233" "NCF2_000010" "g.183559335C>A" "" "{PMID:Roos et al (2010):20167518}" "" "" "submitted through SIB; {EXP:065003}" "Unknown" "" "" "0" "" "" "g.183590200C>A" "" "pathogenic" "" "0000472292" "0" "95" "1" "183556057" "183556057" "subst" "8.12117E-6" "00233" "NCF2_000015" "g.183556057C>T" "" "{PMID:Noack et al (1999):10598813}" "" "" "submitted through SIB; {EXP:017388}" "Unknown" "" "" "0" "" "" "g.183586922C>T" "" "pathogenic" "" "0000472293" "0" "95" "1" "183556054" "183556054" "subst" "0" "00233" "NCF2_000017" "g.183556054C>T" "" "{PMID:de Boer et al (1994):8286749}" "" "" "submitted through SIB; {EXP:008904}" "Unknown" "" "" "0" "" "" "g.183586919C>T" "" "pathogenic" "" "0000472294" "0" "95" "1" "183556052" "183556052" "subst" "4.06058E-6" "00233" "NCF2_000007" "g.183556052T>C" "" "{PMID:Patiño et al (1999):10498624}" "" "" "submitted through SIB; {EXP:065006}; Polymorphism" "Unknown" "" "" "0" "" "" "g.183586917T>C" "" "pathogenic" "" "0000472295" "0" "95" "1" "183546821" "183546821" "subst" "4.06075E-6" "00233" "NCF2_000001" "g.183546821G>C" "" "{PMID:Köker et al (2009):19624736}" "" "" "submitted through SIB; {EXP:065007}" "Unknown" "" "" "0" "" "" "g.183577686G>C" "" "pathogenic" "" "0000472296" "0" "95" "1" "183546795" "183546795" "subst" "0" "00233" "NCF2_000011" "g.183546795C>G" "" "{PMID:Roos et al (2010):20167518}" "" "" "submitted through SIB; {EXP:065009}" "Unknown" "" "" "0" "" "" "g.183577660C>G" "" "pathogenic" "" "0000472297" "0" "95" "1" "183546777" "183546777" "subst" "0" "00233" "NCF2_000003" "g.183546777T>A" "" "{PMID:Yu et al (2008):18625437}" "" "" "submitted through SIB; {EXP:065010}" "Unknown" "" "" "0" "" "" "g.183577642T>A" "" "pathogenic" "" "0000472298" "0" "95" "1" "183543740" "183543740" "subst" "0" "00233" "NCF2_000016" "g.183543740G>A" "" "{PMID:Noack et al (1999):10598813}" "" "" "submitted through SIB; {EXP:017389}" "Unknown" "" "" "0" "" "" "g.183574605G>A" "" "pathogenic" "" "0000472299" "0" "95" "1" "183543714" "183543714" "subst" "0" "00233" "NCF2_000012" "g.183543714A>T" "" "{PMID:Roos et al (2010):20167518}" "" "" "submitted through SIB; {EXP:065011}" "Unknown" "" "" "0" "" "" "g.183574579A>T" "" "pathogenic" "" "0000472300" "0" "95" "1" "183543704" "183543704" "subst" "0" "00233" "NCF2_000018" "g.183543704G>T" "" "{PMID:Roos et al (2010):20167518}" "" "" "submitted through SIB; {EXP:065012}" "Unknown" "" "" "0" "" "" "g.183574569G>T" "" "pathogenic" "" "0000472301" "0" "95" "1" "183542424" "183542424" "subst" "0" "00233" "NCF2_000013" "g.183542424G>C" "" "{PMID:Roos et al (2010):20167518}" "" "" "submitted through SIB; {EXP:065013}" "Unknown" "" "" "0" "" "" "g.183573289G>C" "" "pathogenic" "" "0000472302" "0" "95" "1" "183542378" "183542378" "subst" "1.21831E-5" "00233" "NCF2_000014" "g.183542378C>G" "" "{PMID:Roos et al (2010):20167518}" "" "" "submitted through SIB; {EXP:065014}" "Unknown" "" "" "0" "" "" "g.183573243C>G" "" "pathogenic" "" "0000472303" "0" "95" "1" "183542324" "183542324" "subst" "4.06095E-6" "00233" "NCF2_000002" "g.183542324G>A" "" "{PMID:Köker et al (2009):19624736}" "" "" "submitted through SIB; {EXP:065016}" "Unknown" "" "" "0" "" "" "g.183573189G>A" "" "pathogenic" "" "0000472304" "0" "95" "1" "183534856" "183534856" "subst" "0" "00233" "NCF2_000006" "g.183534856C>T" "" "{PMID:Patiño et al (1999):10498624}" "" "" "submitted through SIB; {EXP:018478}; Polymorphism" "Unknown" "" "" "0" "" "" "g.183565721C>T" "" "pathogenic" "" "0000472305" "0" "95" "1" "183532642" "183532642" "subst" "4.88126E-5" "00233" "NCF2_000008" "g.183532642C>T" "" "{PMID:Noack et al (1999):10598813}" "" "" "submitted through SIB; {EXP:065017}; Polymorphism" "Unknown" "" "" "0" "" "" "g.183563507C>T" "" "pathogenic" "" "0000504401" "0" "30" "1" "183529339" "183529339" "subst" "0.00444264" "01943" "NCF2_000033" "g.183529339G>A" "" "" "" "NCF2(NM_000433.3):c.1360C>T (p.P454S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183560204G>A" "" "likely benign" "" "0000504402" "0" "10" "1" "183532364" "183532364" "subst" "0.00549352" "02325" "NCF2_000021" "g.183532364T>A" "" "" "" "NCF2(NM_000433.3):c.1256A>T (p.N419I), NCF2(NM_000433.4):c.1256A>T (p.N419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183563229T>A" "" "benign" "" "0000504403" "0" "30" "1" "183532436" "183532436" "subst" "0.00111727" "01943" "NCF2_000022" "g.183532436C>T" "" "" "" "NCF2(NM_000433.3):c.1184G>A (p.R395Q), NCF2(NM_001127651.3):c.1184G>A (p.R395Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183563301C>T" "" "likely benign" "" "0000504404" "0" "30" "1" "183532445" "183532445" "subst" "0.00147905" "02326" "NCF2_000034" "g.183532445G>C" "" "" "" "NCF2(NM_001127651.3):c.1179-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183563310G>C" "" "likely benign" "" "0000504405" "0" "30" "1" "183532590" "183532590" "subst" "0.00217041" "02326" "NCF2_000035" "g.183532590C>T" "" "" "" "NCF2(NM_001127651.3):c.1157G>A (p.R386Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183563455C>T" "" "likely benign" "" "0000504406" "0" "50" "1" "183536457" "183536457" "subst" "3.25341E-5" "01943" "NCF2_000036" "g.183536457C>T" "" "" "" "NCF2(NM_000433.3):c.737G>A (p.R246H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183567322C>T" "" "VUS" "" "0000504407" "0" "30" "1" "183556052" "183556052" "subst" "4.06058E-6" "01943" "NCF2_000007" "g.183556052T>C" "" "" "" "NCF2(NM_000433.3):c.235A>G (p.M79V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183586917T>C" "" "likely benign" "" "0000504408" "0" "50" "1" "183559352" "183559352" "subst" "0.00121822" "01943" "NCF2_000037" "g.183559352C>T" "" "" "" "NCF2(NM_000433.3):c.113G>A (p.R38Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183590217C>T" "" "VUS" "" "0000504409" "0" "50" "1" "183559353" "183559353" "subst" "0.000113703" "01943" "NCF2_000038" "g.183559353G>A" "" "" "" "NCF2(NM_000433.3):c.112C>T (p.R38W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183590218G>A" "" "VUS" "" "0000605019" "0" "30" "1" "183559414" "183559414" "subst" "7.31071E-5" "01943" "NCF2_000039" "g.183559414C>T" "" "" "" "NCF2(NM_000433.3):c.51G>A (p.A17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183590279C>T" "" "likely benign" "" "0000647467" "1" "30" "1" "183532580" "183532580" "subst" "0.0344495" "03575" "NCF2_000023" "g.183532580G>T" "83/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "83 heterozygous, no homozygous; {DB:CLININrs17849502}" "Germline" "" "rs17849502" "0" "" "" "g.183563445G>T" "" "likely benign" "" "0000647468" "1" "50" "1" "183532666" "183532666" "subst" "0.001916" "03575" "NCF2_000040" "g.183532666T>A" "9/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs147744729}" "Germline" "" "rs147744729" "0" "" "" "g.183563531T>A" "" "VUS" "" "0000647469" "1" "30" "1" "183536358" "183536358" "subst" "0.00213874" "03575" "NCF2_000025" "g.183536358G>A" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs13306581}" "Germline" "" "rs13306581" "0" "" "" "g.183567223G>A" "" "likely benign" "" "0000653821" "0" "50" "1" "183525353" "183525353" "subst" "0" "01943" "NCF2_000041" "g.183525353C>A" "" "" "" "NCF2(NM_000433.3):c.1481G>T (p.W494L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183556218C>A" "" "VUS" "" "0000675559" "0" "10" "1" "183532437" "183532437" "subst" "0.0183339" "02325" "NCF2_000042" "g.183532437G>A" "" "" "" "NCF2(NM_000433.3):c.1183C>T (p.R395W), NCF2(NM_000433.4):c.1183C>T (p.R395W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675560" "0" "30" "1" "183559372" "183559372" "subst" "0.000121827" "02326" "NCF2_000031" "g.183559372G>A" "" "" "" "NCF2(NM_000433.3):c.93C>T (p.A31=), NCF2(NM_001127651.3):c.93C>T (p.A31=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684731" "0" "30" "1" "183532437" "183532437" "subst" "0.0183339" "00004" "NCF2_000042" "g.183532437G>A" "frequency 0.089" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.183563302G>A" "" "likely benign" "" "0000684732" "0" "30" "1" "183536358" "183536358" "subst" "0.00213874" "00004" "NCF2_000025" "g.183536358G>A" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.183567223G>A" "" "likely benign" "" "0000687954" "0" "10" "1" "183532437" "183532437" "subst" "0.0183339" "02326" "NCF2_000042" "g.183532437G>A" "" "" "" "NCF2(NM_000433.3):c.1183C>T (p.R395W), NCF2(NM_000433.4):c.1183C>T (p.R395W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000687955" "0" "50" "1" "183532666" "183532666" "subst" "0.001916" "01943" "NCF2_000040" "g.183532666T>A" "" "" "" "NCF2(NM_000433.3):c.1081A>T (p.T361S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717025" "0" "10" "1" "183536061" "183536061" "subst" "0.00135226" "02326" "NCF2_000043" "g.183536061C>T" "" "" "" "NCF2(NM_000433.3):c.918G>A (p.Q306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717026" "0" "50" "1" "183546741" "183546741" "subst" "0" "02325" "NCF2_000044" "g.183546741G>T" "" "" "" "NCF2(NM_000433.4):c.359C>A (p.A120D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798947" "0" "30" "1" "183534901" "183534901" "subst" "0.000219337" "01943" "NCF2_000045" "g.183534901G>A" "" "" "" "NCF2(NM_000433.3):c.938C>T (p.P313L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798948" "0" "30" "1" "183543774" "183543774" "subst" "0.000243786" "02326" "NCF2_000046" "g.183543774G>A" "" "" "" "NCF2(NM_000433.3):c.367-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813013" "3" "70" "1" "183556091" "183556091" "subst" "4.06068E-6" "00000" "NCF2_000047" "g.183556091G>A" "" "{PMID:Ehrenberg 2019:31814694}" "" "NCF2 (NM_001127651.2; OMIM: 608515): c.196C>T; p.Arg66* (hom) (chronic granulomatous disease), ?/(RP)" "homozygous" "Germline" "yes" "" "0" "" "" "g.183586956G>A" "" "likely pathogenic" "" "0000857170" "0" "30" "1" "183556093" "183556093" "subst" "2.03032E-5" "02326" "NCF2_000048" "g.183556093T>C" "" "" "" "NCF2(NM_000433.3):c.194A>G (p.N65S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874869" "0" "10" "1" "183559352" "183559352" "subst" "0.00121822" "00006" "NCF2_000037" "g.183559352C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183590217C>T" "" "benign" "" "0000874870" "0" "10" "1" "183556052" "183556052" "subst" "4.06058E-6" "00006" "NCF2_000007" "g.183556052T>C" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183586917T>C" "" "benign" "" "0000874871" "0" "10" "1" "183543638" "183543638" "subst" "1.21837E-5" "00006" "NCF2_000057" "g.183543638G>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183574503G>A" "" "benign" "" "0000874872" "0" "10" "1" "183542387" "183542387" "subst" "0.498753" "00006" "NCF2_000027" "g.183542387T>C" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183573252T>C" "" "benign" "" "0000874873" "0" "10" "1" "183542323" "183542323" "subst" "0.0344116" "00006" "NCF2_000056" "g.183542323C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183573188C>T" "" "benign" "" "0000874874" "0" "10" "1" "183536358" "183536358" "subst" "0.00213874" "00006" "NCF2_000025" "g.183536358G>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "836T>C" "" "SUMMARY record" "" "" "0" "" "" "g.183567223G>A" "" "benign" "" "0000874875" "0" "10" "1" "183536089" "183536089" "subst" "0.00304155" "00006" "NCF2_000055" "g.183536089A>G" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "890C>T" "" "SUMMARY record" "" "" "0" "" "" "g.183566954A>G" "" "benign" "" "0000874876" "0" "10" "1" "183536084" "183536084" "subst" "0" "00006" "NCF2_000054" "g.183536084G>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183566949G>A" "" "benign" "" "0000874877" "0" "10" "1" "183534935" "183534935" "subst" "0.492937" "00006" "NCF2_000053" "g.183534935C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183565800C>T" "" "benign" "" "0000874878" "0" "10" "1" "183534856" "183534856" "subst" "0" "00006" "NCF2_000006" "g.183534856C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183565721C>T" "" "benign" "" "0000874879" "0" "10" "1" "183532666" "183532666" "subst" "0.001916" "00006" "NCF2_000040" "g.183532666T>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183563531T>A" "" "benign" "" "0000874880" "0" "10" "1" "183532642" "183532642" "subst" "4.88126E-5" "00006" "NCF2_000008" "g.183532642C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183563507C>T" "" "benign" "" "0000874881" "0" "10" "1" "183532590" "183532590" "subst" "0.00217041" "00006" "NCF2_000035" "g.183532590C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183563455C>T" "" "benign" "" "0000874882" "0" "10" "1" "183532580" "183532580" "subst" "0.0344495" "00006" "NCF2_000023" "g.183532580G>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183563445G>T" "" "benign" "" "0000874883" "0" "10" "1" "183532437" "183532437" "subst" "0.0183339" "00006" "NCF2_000042" "g.183532437G>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183563302G>A" "" "benign" "" "0000874884" "0" "10" "1" "183532436" "183532436" "subst" "0.00111727" "00006" "NCF2_000022" "g.183532436C>T" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183563301C>T" "" "benign" "" "0000874885" "0" "10" "1" "183532365" "183532365" "subst" "0" "00006" "NCF2_000052" "g.183532365T>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183563230T>A" "" "benign" "" "0000874886" "0" "10" "1" "183529339" "183529339" "subst" "0.00444264" "00006" "NCF2_000033" "g.183529339G>A" "" "{PMID:Roos 2021:16608528}, {DOI:Roos 2021:10.1016/j.bcmd.2021.102596}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.183560204G>A" "" "benign" "" "0000876224" "3" "90" "1" "183546734" "183546738" "del" "0" "00006" "NCF2_000049" "g.183546734_183546738del" "" "{PMID:Kannengiesser 2008:18546332}, {DOI:Kannengiesser 2008:10.1002/humu.20820}" "" "364_ 366+2delGAGGT" "" "Germline" "" "" "0" "" "" "g.183577599_183577603del" "" "pathogenic (recessive)" "" "0000876225" "3" "90" "1" "183546733" "183546733" "subst" "0" "00006" "NCF2_000050" "g.183546733C>T" "" "{PMID:Kannengiesser 2008:18546332}, {DOI:Kannengiesser 2008:10.1002/humu.20820}" "" "364+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000876226" "3" "90" "1" "183536114" "183536115" "del" "0" "00006" "NCF2_000051" "g.183536114_183536115del" "" "{PMID:Kannengiesser 2008:18546332}, {DOI:Kannengiesser 2008:10.1002/humu.20820}" "" "866_867delGT (Val267LeufsX8)" "" "Germline" "" "" "0" "" "" "g.183566979_183566980del" "" "pathogenic (recessive)" "" "0000876241" "3" "90" "1" "183546796" "183546796" "subst" "4.06068E-5" "00006" "NCF2_000058" "g.183546796G>A" "" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "" "" "" "Germline" "" "" "0" "" "" "g.183577661G>A" "" "pathogenic (recessive)" "" "0000876242" "3" "90" "1" "183546796" "183546796" "subst" "4.06068E-5" "00006" "NCF2_000058" "g.183546796G>A" "" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "" "" "" "Germline" "" "" "0" "" "" "g.183577661G>A" "" "pathogenic (recessive)" "" "0000876243" "3" "90" "1" "183546796" "183546796" "subst" "4.06068E-5" "00006" "NCF2_000058" "g.183546796G>A" "" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "" "" "" "Germline" "" "" "0" "" "" "g.183577661G>A" "" "pathogenic (recessive)" "" "0000876244" "3" "90" "1" "183546796" "183546796" "subst" "4.06068E-5" "00006" "NCF2_000058" "g.183546796G>A" "" "{PMID:Wolach 2008:18708296}, {DOI:Wolach 2008:10.1016/j.clim.2008.06.012}" "" "" "" "Germline" "" "" "0" "" "" "g.183577661G>A" "" "pathogenic (recessive)" "" "0000882967" "0" "30" "1" "183534907" "183534907" "subst" "0" "02326" "NCF2_000059" "g.183534907C>A" "" "" "" "NCF2(NM_000433.3):c.932G>T (p.S311I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882968" "0" "30" "1" "183536490" "183536490" "subst" "0" "02326" "NCF2_000060" "g.183536490A>T" "" "" "" "NCF2(NM_000433.3):c.714-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882969" "0" "30" "1" "183542366" "183542366" "subst" "0.000641619" "02326" "NCF2_000061" "g.183542366C>T" "" "" "" "NCF2(NM_000433.3):c.563G>A (p.R188K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882970" "0" "30" "1" "183559371" "183559371" "subst" "3.65464E-5" "02326" "NCF2_000062" "g.183559371C>T" "" "" "" "NCF2(NM_000433.3):c.94G>A (p.V32I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910856" "0" "30" "1" "183536345" "183536345" "subst" "2.4462E-5" "02326" "NCF2_000063" "g.183536345G>A" "" "" "" "NCF2(NM_000433.3):c.849C>T (p.N283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910857" "0" "50" "1" "183536457" "183536457" "subst" "3.25341E-5" "02327" "NCF2_000036" "g.183536457C>T" "" "" "" "NCF2(NM_000433.3):c.737G>A (p.R246H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918700" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Vignesh 2021:33259975}, {PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "yes" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918809" "1" "90" "1" "183532648" "183532648" "subst" "0" "00006" "NCF2_000072" "g.183532648G>A" "" "{PMID:Rawat 2021:33717137}" "" "[1179-2A>T;1099C>T]" "" "Germline" "" "" "0" "" "" "g.183563513G>A" "" "pathogenic (recessive)" "" "0000918810" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918811" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918812" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918813" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918814" "3" "90" "1" "183543614" "183543621" "del" "4.06101E-6" "00006" "NCF2_000077" "g.183543614_183543621del" "" "{PMID:Rawat 2021:33717137}" "" "501+1_+8delGTAAGCGT" "" "Germline" "" "" "0" "" "" "g.183574479_183574486del" "" "pathogenic (recessive)" "" "0000918815" "3" "90" "1" "183532598" "183532599" "del" "0" "00006" "NCF2_000070" "g.183532598_183532599del" "" "{PMID:Rawat 2021:33717137}" "" "" "" "Germline" "" "" "0" "" "" "g.183563463_183563464del" "" "pathogenic (recessive)" "" "0000918816" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918817" "3" "90" "1" "183556058" "183556058" "subst" "1.62423E-5" "00006" "NCF2_000086" "g.183556058G>A" "" "{PMID:Rawat 2021:33717137}" "" "" "" "Germline" "" "" "0" "" "" "g.183586923G>A" "" "pathogenic (recessive)" "" "0000918818" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918819" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918820" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "835_836delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918821" "1" "90" "1" "183532580" "183532580" "subst" "0.0344495" "00006" "NCF2_000023" "g.183532580G>T" "" "{PMID:Rawat 2021:33717137}" "" "[1178+1G>A;1167C>A]" "" "Germline" "" "" "0" "" "" "g.183563445G>T" "" "pathogenic (recessive)" "" "0000918822" "3" "90" "1" "183536359" "183536360" "del" "0" "00006" "NCF2_000064" "g.183536359_183536360del" "" "{PMID:Rawat 2021:33717137}" "" "834_835delAC" "" "Germline" "" "" "0" "" "" "g.183567224_183567225del" "" "pathogenic (recessive)" "" "0000918823" "3" "90" "1" "183532598" "183532599" "del" "0" "00006" "NCF2_000070" "g.183532598_183532599del" "" "{PMID:Rawat 2021:33717137}" "" "1148_1149 TG del" "" "Germline" "" "" "0" "" "" "g.183563463_183563464del" "" "pathogenic (recessive)" "" "0000918824" "3" "90" "1" "183559392" "183559392" "subst" "0" "00006" "NCF2_000089" "g.183559392C>T" "" "{PMID:Rawat 2021:33717137}" "" "" "" "Germline" "" "" "0" "" "" "g.183590257C>T" "" "pathogenic (recessive)" "" "0000918825" "3" "90" "1" "183542379" "183542379" "subst" "1.21833E-5" "00006" "NCF2_000075" "g.183542379G>A" "" "{PMID:Rawat 2021:33717137}" "" "" "" "Germline" "" "" "0" "" "" "g.183573244G>A" "" "pathogenic (recessive)" "" "0000918826" "3" "90" "1" "183543704" "183543704" "del" "0" "00006" "NCF2_000080" "g.183543704del" "" "{PMID:Rawat 2021:33717137}" "" "" "" "Germline" "" "" "0" "" "" "g.183574569del" "" "pathogenic (recessive)" "" "0000918827" "3" "90" "1" "183542379" "183542379" "subst" "1.21833E-5" "00006" "NCF2_000075" "g.183542379G>A" "" "{PMID:Rawat 2021:33717137}" "" "" "" "Germline" "" "" "0" "" "" "g.183573244G>A" "" "pathogenic (recessive)" "" "0000918828" "3" "90" "1" "183546733" "183546843" "del" "0" "00006" "NCF2_000082" "g.(183543757_183546733)_(183546843_183556029)del" "" "{PMID:Rawat 2021:33717137}" "" "del ex3" "" "Germline" "" "" "0" "" "" "g.(183574622_183577598)_(183577708_183586894)del" "" "pathogenic (recessive)" "" "0000918841" "2" "90" "1" "183532648" "183532648" "subst" "0" "00006" "NCF2_000072" "g.183532648G>A" "" "{PMID:Rawat 2021:33717137}" "" "[1179-2A>T;1099C>T]" "" "Germline" "" "" "0" "" "" "g.183563513G>A" "" "pathogenic (recessive)" "" "0000918842" "2" "90" "1" "183532580" "183532580" "subst" "0.0344495" "00006" "NCF2_000023" "g.183532580G>T" "" "{PMID:Rawat 2021:33717137}" "" "[1178+1G>A;1167C>A]" "" "Germline" "" "" "0" "" "" "g.183563445G>T" "" "pathogenic (recessive)" "" "0000918986" "1" "90" "1" "183556091" "183556091" "subst" "4.06068E-6" "00006" "NCF2_000047" "g.183556091G>A" "" "{PMID:Kulkarni 2018:30470980}" "" "" "" "Germline" "" "" "0" "" "" "g.183586956G>A" "" "pathogenic (recessive)" "" "0000918987" "3" "90" "1" "183532598" "183532599" "del" "0" "00006" "NCF2_000070" "g.183532598_183532599del" "" "{PMID:Kulkarni 2018:30470980}" "" "1148_1149TGdel" "" "Germline" "" "" "0" "" "" "g.183563463_183563464del" "" "pathogenic (recessive)" "" "0000918988" "3" "90" "1" "183542379" "183542379" "subst" "1.21833E-5" "00006" "NCF2_000075" "g.183542379G>A" "" "{PMID:Kulkarni 2018:30470980}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.183573244G>A" "" "pathogenic (recessive)" "" "0000918989" "3" "90" "1" "183559392" "183559392" "subst" "0" "00006" "NCF2_000089" "g.183559392C>T" "" "{PMID:Kulkarni 2018:30470980}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.183590257C>T" "" "pathogenic (recessive)" "" "0000918990" "3" "90" "1" "183556029" "183559705" "del" "0" "00006" "NCF2_000085" "g.(183546843_183556029)_(183559705_?)del" "" "{PMID:Kulkarni 2018:30470980}" "" "del ex1-2" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(183577708_183586894)_(183590570_?)del" "" "pathogenic (recessive)" "" "0000918991" "3" "90" "1" "183542379" "183542379" "subst" "1.21833E-5" "00006" "NCF2_000075" "g.183542379G>A" "" "{PMID:Kulkarni 2018:30470980}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.183573244G>A" "" "pathogenic (recessive)" "" "0000919043" "2" "90" "1" "183542378" "183542378" "subst" "1.21831E-5" "00006" "NCF2_000014" "g.183542378C>G" "" "{PMID:Kulkarni 2018:30470980}" "" "" "" "Germline" "" "" "0" "" "" "g.183573243C>G" "" "pathogenic (recessive)" "" "0000919195" "3" "90" "1" "183546796" "183546796" "subst" "4.06068E-5" "00006" "NCF2_000058" "g.183546796G>A" "" "{PMID:Wang 2019:31456102}" "" "" "" "Germline" "" "" "0" "" "" "g.183577661G>A" "" "pathogenic (recessive)" "" "0000919196" "3" "90" "1" "183556054" "183556054" "subst" "0" "00006" "NCF2_000017" "g.183556054C>T" "" "{PMID:Wang 2019:31456102}" "" "" "" "Germline" "" "" "0" "" "" "g.183586919C>T" "" "pathogenic (recessive)" "" "0000919221" "3" "90" "1" "183559328" "183559328" "subst" "0" "00006" "NCF2_000088" "g.183559328A>C" "" "{PMID:Ying 2014:24722620}, {PMID:Wu 2017:28251166}" "" "" "" "Germline" "" "" "0" "" "" "g.183590193A>C" "" "pathogenic (recessive)" "" "0000919222" "3" "90" "1" "183532614" "183532619" "del" "0" "00006" "NCF2_000071" "g.183532614_183532619del" "" "{PMID:Ying 2014:24722620}, {PMID:Wu 2017:28251166}" "" "" "" "Germline" "" "" "0" "" "" "g.183563479_183563484del" "" "pathogenic (recessive)" "" "0000919246" "3" "90" "1" "183542379" "183542379" "subst" "1.21833E-5" "00006" "NCF2_000075" "g.183542379G>A" "" "{PMID:Wu 2017:28251166}" "" "" "" "Germline" "" "" "0" "" "" "g.183573244G>A" "" "pathogenic (recessive)" "" "0000919331" "3" "90" "1" "183542975" "183544355" "del" "0" "00006" "NCF2_000065" "g.183542975_183544355del" "" "{PMID:Gentsch 2010:19953534}" "" "del ex5" "" "Germline" "" "" "0" "" "" "g.183573840_183575220del" "" "pathogenic (recessive)" "" "0000919332" "3" "90" "1" "183542954" "183544334" "del" "0" "00006" "NCF2_000066" "g.183542954_183544334del" "" "{PMID:Gentsch 2010:19953534}" "" "366+2401_502-527del1380" "" "Germline" "yes" "" "0" "" "" "g.183573819_183575199del" "" "pathogenic (recessive)" "" "0000919333" "3" "90" "1" "183542954" "183544334" "del" "0" "00006" "NCF2_000066" "g.183542954_183544334del" "" "{PMID:Gentsch 2010:19953534}" "" "366+2401_502-527del1380" "" "Germline" "yes" "" "0" "" "" "g.183573819_183575199del" "" "pathogenic (recessive)" "" "0000919334" "3" "90" "1" "183542954" "183544334" "del" "0" "00006" "NCF2_000066" "g.183542954_183544334del" "" "{PMID:Gentsch 2010:19953534}" "" "366+2401_502-527del1380" "" "Germline" "yes" "" "0" "" "" "g.183573819_183575199del" "" "pathogenic (recessive)" "" "0000919387" "1" "90" "7" "74193642" "74193642" "subst" "0" "00006" 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"g.183586894C>T" "" "pathogenic (recessive)" "" "0000919431" "3" "90" "1" "0" "0" "" "0" "00006" "NPHS2_000000" "g.?" 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"g.183567293_183567294dup" "" "pathogenic (recessive)" "" "0000920830" "3" "90" "1" "183543621" "183543621" "subst" "0" "00006" "NCF2_000078" "g.183543621C>G" "" "{PMID:Aygun 2020:32512560}" "" "279G>C;IVS4+1G>C" "" "Germline" "" "" "0" "" "" "g.183574486C>G" "" "pathogenic (recessive)" "" "0000920831" "3" "90" "1" "183543621" "183543621" "subst" "0" "00006" "NCF2_000078" "g.183543621C>G" "" "{PMID:Aygun 2020:32512560}" "" "279G>C;IVS4+1G>C" "" "Germline" "" "" "0" "" "" "g.183574486C>G" "" "pathogenic (recessive)" "" "0000920857" "3" "90" "1" "183532574" "183532578" "del" "0" "00006" "NCF2_000067" "g.183532574_183532578del" "" "{PMID:Bakri 2009:18773283}" "" "del1169-1173" "" "Germline" "" "" "0" "" "" "g.183563439_183563443del" "" "pathogenic (recessive)" "" "0000920858" "3" "90" "1" "183532574" "183532578" "del" "0" "00006" "NCF2_000067" "g.183532574_183532578del" "" "{PMID:Bakri 2009:18773283}" "" "del1169-1173" "" "Germline" "" "" "0" "" "" "g.183563439_183563443del" "" "pathogenic (recessive)" "" "0000920859" "3" "90" "1" "183532574" "183532578" "del" "0" "00006" "NCF2_000067" "g.183532574_183532578del" "" "{PMID:Bakri 2009:18773283}" "" "del1169-1173" "" "Germline" "yes" "" "0" "" "" "g.183563439_183563443del" "" "pathogenic (recessive)" "" "0000923018" "0" "30" "1" "183525282" "183525282" "subst" "0.000495516" "02326" "NCF2_000091" "g.183525282C>G" "" "" "" "NCF2(NM_000433.3):c.1552G>C (p.D518H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923019" "0" "10" "1" "183536358" "183536358" "subst" "0.00213874" "02326" "NCF2_000025" "g.183536358G>A" "" "" "" "NCF2(NM_000433.3):c.836C>T (p.T279M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947054" "0" "50" "1" "183532666" "183532666" "subst" "0.001916" "02327" "NCF2_000040" "g.183532666T>A" "" "" "" "NCF2(NM_000433.3):c.1081A>T (p.T361S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947055" "0" "30" "1" "183559309" "183559309" "subst" "6.90669E-5" "02326" "NCF2_000092" "g.183559309G>A" "" "" "" "NCF2(NM_000433.3):c.156C>T (p.N52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990620" "0" "90" "1" "183532443" "183532443" "subst" "0" "02327" "NCF2_000072" "g.183532443T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024074" "0" "30" "1" "183532364" "183532364" "subst" "0.00549352" "02327" "NCF2_000021" "g.183532364T>A" "" "" "" "NCF2(NM_000433.3):c.1256A>T (p.N419I), NCF2(NM_000433.4):c.1256A>T (p.N419I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031525" "0" "30" "1" "183529339" "183529339" "subst" "0.00444264" "02327" "NCF2_000033" "g.183529339G>A" "" "" "" "NCF2(NM_000433.3):c.1360C>T (p.P454S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NCF2 ## Count = 187 "{{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}}" "0000251198" "00014349" "10" "1001" "-10" "1001" "-10" "c.1001-10T>G" "r.(=)" "p.(=)" "" "0000296335" "00014349" "10" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Lys181Arg)" "" "0000299909" "00014349" "30" "107" "0" "107" "0" "c.107A>C" "r.(?)" "p.(His36Pro)" "" "0000299910" "00014349" "30" "1167" "0" "1167" "0" "c.1167C>A" "r.(?)" "p.(His389Gln)" "" "0000299911" "00014349" "30" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395Gln)" "" "0000299912" "00014349" "10" "1256" "0" "1256" "0" "c.1256A>T" "r.(?)" "p.(Asn419Ile)" "" "0000299913" "00014349" "30" "174" "8" "174" "8" "c.174+8G>C" "r.(=)" "p.(=)" "" "0000299914" "00014349" "30" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Ser157Phe)" "" "0000299915" "00014349" "90" "778" "0" "778" "0" "c.778del" "r.(?)" "p.(Gln260ArgfsTer11)" "" "0000302921" "00014349" "10" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000302922" "00014349" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Ala31=)" "" "0000350030" "00014349" "90" "879" "0" "879" "0" "c.879C>G" "r.(?)" "p.(Tyr293Ter)" "" "0000472288" "00014349" "95" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(Asn42Ser)" "1" "0000472289" "00014349" "95" "130" "0" "130" "0" "c.130G>C" "r.(?)" "p.(Gly44Arg)" "1" "0000472290" "00014349" "95" "130" "0" "130" "0" "c.130G>C" "r.(?)" "p.(Gly44Arg)" "1" "0000472291" "00014349" "95" "130" "0" "130" "0" "c.130G>T" "r.(?)" "p.(Gly44Cys)" "1" "0000472292" "00014349" "95" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Arg77Gln)" "2" "0000472293" "00014349" "95" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Gly78Glu)" "2" "0000472294" "00014349" "95" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Met79Val)" "2" "0000472295" "00014349" "95" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "3" "0000472296" "00014349" "95" "305" "0" "305" "0" "c.305G>C" "r.(?)" "p.(Arg102Pro)" "3" "0000472297" "00014349" "95" "323" "0" "323" "0" "c.323A>T" "r.(?)" "p.(Asp108Val)" "3" "0000472298" "00014349" "95" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ala128Val)" "4" "0000472299" "00014349" "95" "409" "0" "409" "0" "c.409T>A" "r.(?)" "p.(Trp137Arg)" "4" "0000472300" "00014349" "95" "419" "0" "419" "0" "c.419C>A" "r.(?)" "p.(Ala140Asp)" "4" "0000472301" "00014349" "95" "505" "0" "505" "0" "c.505C>G" "r.(?)" "p.(Gln169Glu)" "5" "0000472302" "00014349" "95" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Pro)" "5" "0000472303" "00014349" "95" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "5" "0000472304" "00014349" "95" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328Lys)" "10" "0000472305" "00014349" "95" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Gly369Arg)" "12" "0000504401" "00014349" "30" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Pro454Ser)" "" "0000504402" "00014349" "10" "1256" "0" "1256" "0" "c.1256A>T" "r.(?)" "p.(Asn419Ile)" "" "0000504403" "00014349" "30" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395Gln)" "" "0000504404" "00014349" "30" "1179" "-4" "1179" "-4" "c.1179-4C>G" "r.spl?" "p.?" "" "0000504405" "00014349" "30" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000504406" "00014349" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246His)" "" "0000504407" "00014349" "30" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Met79Val)" "" "0000504408" "00014349" "50" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000504409" "00014349" "50" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Trp)" "" "0000605019" "00014349" "30" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Ala17=)" "" "0000647467" "00014349" "30" "1167" "0" "1167" "0" "c.1167C>A" "r.(?)" "p.(His389Gln)" "" "0000647468" "00014349" "50" "1081" "0" "1081" "0" "c.1081A>T" "r.(?)" "p.(Thr361Ser)" "" "0000647469" "00014349" "30" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000653821" "00014349" "50" "1481" "0" "1481" "0" "c.1481G>T" "r.(?)" "p.(Trp494Leu)" "" "0000675559" "00014349" "10" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "" "0000675560" "00014349" "30" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Ala31=)" "" "0000684731" "00014349" "30" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "" "0000684732" "00014349" "30" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000687954" "00014349" "10" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "" "0000687955" "00014349" "50" "1081" "0" "1081" "0" "c.1081A>T" "r.(?)" "p.(Thr361Ser)" "" "0000717025" "00014349" "10" "918" "0" "918" "0" "c.918G>A" "r.(?)" "p.(Gln306=)" "" "0000717026" "00014349" "50" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Ala120Asp)" "" "0000798947" "00014349" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Pro313Leu)" "" "0000798948" "00014349" "30" "367" "-18" "367" "-18" "c.367-18C>T" "r.(=)" "p.(=)" "" "0000813013" "00014349" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66*)" "" "0000857170" "00014349" "30" "194" "0" "194" "0" "c.194A>G" "r.(?)" "p.(Asn65Ser)" "" "0000874869" "00014349" "10" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Arg38Gln)" "" "0000874870" "00014349" "10" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Met79Val)" "" "0000874871" "00014349" "10" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Ala162Val)" "" "0000874872" "00014349" "10" "542" "0" "542" "0" "c.542A>G" "r.(?)" "p.(Lys181Arg)" "" "0000874873" "00014349" "10" "606" "0" "606" "0" "c.606G>A" "r.(?)" "p.(Ala202=)" "" "0000874874" "00014349" "10" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000874875" "00014349" "10" "890" "0" "890" "0" "c.890T>C" "r.(?)" "p.(Val297Ala)" "" "0000874876" "00014349" "10" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Leu299=)" "" "0000874877" "00014349" "10" "925" "-21" "925" "-21" "c.925-21G>A" "r.(?)" "p.(=)" "" "0000874878" "00014349" "10" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328Lys)" "" "0000874879" "00014349" "10" "1081" "0" "1081" "0" "c.1081A>T" "r.(?)" "p.(Thr361Ser)" "" "0000874880" "00014349" "10" "1105" "0" "1105" "0" "c.1105G>A" "r.(?)" "p.(Gly369Arg)" "" "0000874881" "00014349" "10" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0000874882" "00014349" "10" "1167" "0" "1167" "0" "c.1167C>A" "r.(?)" "p.(His389Gln)" "" "0000874883" "00014349" "10" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "" "0000874884" "00014349" "10" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Arg395Gln)" "" "0000874885" "00014349" "10" "1255" "0" "1255" "0" "c.1255A>T" "r.(?)" "p.(Asn419Tyr)" "" "0000874886" "00014349" "10" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Pro454Ser)" "" "0000876224" "00014349" "90" "364" "0" "366" "2" "c.364_366+2del" "r.spl" "p.?" "" "0000876225" "00014349" "90" "366" "1" "366" "1" "c.366+1G>A" "r.spl" "p.?" "" "0000876226" "00014349" "90" "865" "0" "866" "0" "c.865_866del" "r.(?)" "p.(Val289Serfs*6)" "" "0000876241" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000876242" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000876243" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000876244" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000882967" "00014349" "30" "932" "0" "932" "0" "c.932G>T" "r.(?)" "p.(Ser311Ile)" "" "0000882968" "00014349" "30" "714" "-10" "714" "-10" "c.714-10T>A" "r.(=)" "p.(=)" "" "0000882969" "00014349" "30" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Arg188Lys)" "" "0000882970" "00014349" "30" "94" "0" "94" "0" "c.94G>A" "r.(?)" "p.(Val32Ile)" "" "0000910856" "00014349" "30" "849" "0" "849" "0" "c.849C>T" "r.(?)" "p.(Asn283=)" "" "0000910857" "00014349" "50" "737" "0" "737" "0" "c.737G>A" "r.(?)" "p.(Arg246His)" "" "0000918700" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279Glyfs*16)" "" "0000918809" "00014349" "90" "1179" "-2" "1179" "-2" "c.1179-2A>T" "r.(?)" "p.(Gln367Ter)" "13i" "0000918810" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918811" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918812" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918813" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918814" "00014349" "90" "501" "1" "501" "8" "c.501+1_501+8del" "r.spl" "p.?" "5i" "0000918815" "00014349" "90" "1148" "0" "1149" "0" "c.1148_1149delTG" "r.(?)" "p.(Leu383ArgfsTer8)" "13" "0000918816" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918817" "00014349" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Ter)" "2" "0000918818" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918819" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918820" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918821" "00014349" "90" "1178" "1" "1178" "1" "c.1178+1G>A" "r.(?)" "p.(His389Gln)" "13i" "0000918822" "00014349" "90" "835" "0" "836" "0" "c.835_836del" "r.(?)" "p.(Thr279GlyfsTer16)" "9" "0000918823" "00014349" "90" "1148" "0" "1149" "0" "c.1148_1149del" "r.(?)" "p.(Leu383ArgfsTer8)" "12" "0000918824" "00014349" "90" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Ala25Thr)" "2" "0000918825" "00014349" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Ter)" "5" "0000918826" "00014349" "90" "419" "0" "419" "0" "c.419delC" "r.(?)" "p.(Ala140ValfsTer5)" "4" "0000918827" "00014349" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Ter)" "5" "0000918828" "00014349" "90" "258" "-1" "366" "1" "c.(257+1_258-1)_(366+1_367-1)del" "r.?" "p.?" "2i_3i" "0000918841" "00014349" "90" "1099" "0" "1099" "0" "c.1099C>T" "r.(?)" "p.(Gln367Ter)" "12" "0000918842" "00014349" "90" "1167" "0" "1167" "0" "c.1167C>A" "r.(?)" "p.(His389Gln)" "13" "0000918986" "00014349" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Ter)" "2" "0000918987" "00014349" "90" "1148" "0" "1149" "0" "c.1148_1149del" "r.(?)" "p.(Leu383ArgfsTer8)" "12" "0000918988" "00014349" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Ter)" "5" "0000918989" "00014349" "90" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Ala25Thr)" "2" "0000918990" "00014349" "90" "" "0" "" "0" "c.-241_(257+1_258-1){0}" "r.0?" "p.0?" "_1_2i" "0000918991" "00014349" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Ter)" "5" "0000919043" "00014349" "90" "551" "0" "551" "0" "c.551G>C" "r.(?)" "p.(Arg184Pro)" "5" "0000919195" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "3" "0000919196" "00014349" "90" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Gly78Glu)" "2" "0000919221" "00014349" "90" "137" "0" "137" "0" "c.137T>G" "r.(?)" "p.(Met46Arg)" "" "0000919222" "00014349" "90" "1130" "0" "1135" "0" "c.1130_1135del" "r.(?)" "p.(Asp377_Met378del)" "9" "0000919246" "00014349" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Arg184Ter)" "" "0000919331" "00014349" "90" "367" "-599" "502" "-548" "c.367-599_502-548del" "r.?" "p.?" "3i_4i" "0000919332" "00014349" "90" "367" "-577" "502" "-526" "c.367-577_502-526del" "r.367_501del" "p.Val123_Trp167" "3i_4i" "0000919333" "00014349" "90" "367" "-577" "502" "-526" "c.367-577_502-526del" "r.(367_501del)" "p.(Val123_Trp167)" "3i_4i" "0000919334" "00014349" "90" "367" "-577" "502" "-526" "c.367-577_502-526del" "r.(367_501del)" "p.(Val123_Trp167)" "3i_4i" "0000919387" "00014349" "90" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90His)" "" "0000919412" "00014349" "90" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "4" "0000919413" "00014349" "90" "502" "-1" "502" "-1" "c.502-1G>T" "r.spl" "p.[Lys168_Gln223del,Val204_Gln223del]" "5i" "0000919414" "00014349" "90" "502" "-1" "502" "-1" "c.502-1G>T" "r.spl" "p.[Lys168_Gln223del,Val204_Gln223del]" "5i" "0000919427" "00014349" "90" "257" "1" "257" "1" "c.257+1G>A" "r.spl" "p.(Ala59IlefsTer2)" "3i" "0000919431" "00014349" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000919614" "00014349" "90" "1171" "0" "1175" "0" "c.1171_1175del" "r.(?)" "p.(Lys391GlufsTer9)" "" "0000919615" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "" "0000919616" "00014349" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Ter)" "" "0000919617" "00014349" "90" "856" "-1" "1000" "1" "c.(855+1_856-1)_(1000+1_1001-1)dup" "r.(856_1000dup)" "p.?" "8i_10i" "0000919827" "00014349" "90" "137" "0" "137" "0" "c.137T>G" "r.(?)" "p.(Met46Arg)" "2" "0000919828" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "3" "0000919829" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "3" "0000919830" "00014349" "90" "278" "0" "278" "0" "c.278A>T" "r.(?)" "p.(Asp93Val)" "3" "0000919831" "00014349" "90" "1234" "0" "1234" "0" "c.1234del" "r.(?)" "p.(Asp412MetfsTer6)" "14" "0000919832" "00014349" "90" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Trp)" "13" "0000919833" "00014349" "90" "1130" "0" "1135" "0" "c.1130_1135del" "r.(?)" "p.(Asp377_Met378del)" "13" "0000919834" "00014349" "90" "475" "0" "475" "0" "c.475del" "r.(?)" "p.(Ile159SerfsTer18)" "6" "0000919835" "00014349" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Ter)" "2" "0000919836" "00014349" "90" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "8" "0000919980" "00014349" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Ter)" "1" "0000919981" "00014349" "90" "1180" "0" "1180" "0" "c.1180T>G" "r.(?)" "p.(Tyr394Asp)" "13" "0000919982" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "1" "0000919983" "00014349" "90" "" "0" "" "0" "c.172‐174delAAG" "r.(?)" "p.(Lys58del)" "1" "0000919988" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "1" "0000919989" "00014349" "90" "1180" "0" "1180" "0" "c.1180T>G" "r.(?)" "p.(Tyr394Asp)" "13" "0000919990" "00014349" "90" "1180" "0" "1180" "0" "c.1180T>G" "r.(?)" "p.(Tyr394Asp)" "13" "0000920212" "00014349" "90" "29" "0" "29" "0" "c.29G>A" "r.29g>a" "p.Trp10Ter" "1" "0000920624" "00014349" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Ter)" "3" "0000920625" "00014349" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77Ter)" "3" "0000920626" "00014349" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "4" "0000920627" "00014349" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "4" "0000920628" "00014349" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "4" "0000920629" "00014349" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "4" "0000920630" "00014349" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "4" "0000920631" "00014349" "90" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Ter)" "4" "0000920632" "00014349" "90" "409" "0" "409" "0" "c.409T>A" "r.(?)" "p.(Trp137Arg)" "5" "0000920633" "00014349" "90" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Trp137Ter)" "5" "0000920634" "00014349" "90" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Trp137Ter)" "5" "0000920635" "00014349" "90" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "6" "0000920636" "00014349" "90" "767" "0" "768" "0" "c.767_768dup" "r.(?)" "p.(Glu257LysfsTer15)" "9" "0000920638" "00014349" "90" "501" "1" "501" "1" "c.501+1G>C" "r.spl" "p.?" "5i" "0000920639" "00014349" "90" "501" "1" "501" "1" "c.501+1G>C" "r.spl" "p.?" "5i" "0000920640" "00014349" "90" "501" "1" "501" "1" "c.501+1G>C" "r.spl" "p.?" "5i" "0000920641" "00014349" "90" "501" "1" "501" "1" "c.501+1G>C" "r.spl" "p.?" "5i" "0000920642" "00014349" "90" "501" "1" "501" "1" "c.501+1G>C" "r.spl" "p.?" "5i" "0000920820" "00014349" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "" "0000920821" "00014349" "50" "279" "0" "279" "0" "c.279C>G" "r.(?)" "p.(Asp93Glu)" "" "0000920828" "00014349" "90" "767" "0" "768" "0" "c.767_768dup" "p.Glu257LysfsTer15" "p.(Glu257LysfsTer15)" "" "0000920830" "00014349" "90" "501" "1" "501" "1" "c.501+1G>C" "r.spl" "p.?" "" "0000920831" "00014349" "90" "501" "1" "501" "1" "c.501+1G>C" "r.spl" "p.?" "" "0000920857" "00014349" "90" "1171" "0" "1175" "0" "c.1171_1175del" "r.(?)" "p.(Lys391Glufs*9)" "" "0000920858" "00014349" "90" "1171" "0" "1175" "0" "c.1171_1175del" "r.(?)" "p.(Lys391Glufs*9)" "" "0000920859" "00014349" "90" "1171" "0" "1175" "0" "c.1171_1175del" "r.(?)" "p.(Lys391Glufs*9)" "" "0000923018" "00014349" "30" "1552" "0" "1552" "0" "c.1552G>C" "r.(?)" "p.(Asp518His)" "" "0000923019" "00014349" "10" "836" "0" "836" "0" "c.836C>T" "r.(?)" "p.(Thr279Met)" "" "0000947054" "00014349" "50" "1081" "0" "1081" "0" "c.1081A>T" "r.(?)" "p.(Thr361Ser)" "" "0000947055" "00014349" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(=)" "" "0000990620" "00014349" "90" "1179" "-2" "1179" "-2" "c.1179-2A>T" "r.spl?" "p.?" "" "0001024074" "00014349" "30" "1256" "0" "1256" "0" "c.1256A>T" "r.(?)" "p.(Asn419Ile)" "" "0001031525" "00014349" "30" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Pro454Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 124 "{{screeningid}}" "{{variantid}}" "0000230700" "0000472288" "0000230701" "0000472289" "0000230702" "0000472290" "0000230703" "0000472291" "0000230704" "0000472292" "0000230705" "0000472293" "0000230706" "0000472294" "0000230707" "0000472295" "0000230708" "0000472296" "0000230709" "0000472297" "0000230710" "0000472298" "0000230711" "0000472299" "0000230712" "0000472300" "0000230713" "0000472301" "0000230714" "0000472302" "0000230715" "0000472303" "0000230716" "0000472304" "0000230717" "0000472305" "0000290778" "0000647467" "0000290779" "0000647468" "0000290780" "0000647469" "0000309829" "0000684731" "0000309830" "0000684732" "0000385856" "0000813013" "0000416782" "0000876224" "0000416783" "0000876225" "0000416784" "0000876226" "0000416796" "0000876241" "0000416797" "0000876242" "0000416798" "0000876243" "0000416799" "0000876244" "0000433069" "0000918700" "0000433176" "0000918809" "0000433176" "0000918841" "0000433177" "0000918810" "0000433178" "0000918811" "0000433179" "0000918812" "0000433180" "0000918813" "0000433181" "0000918814" "0000433182" "0000918815" "0000433183" "0000918816" "0000433184" "0000918817" "0000433185" "0000918818" "0000433186" "0000918819" "0000433187" "0000918820" "0000433188" "0000918821" "0000433188" "0000918842" "0000433189" "0000918822" "0000433190" "0000918823" "0000433191" "0000918824" "0000433192" "0000918825" "0000433193" "0000918826" "0000433194" "0000918827" "0000433195" "0000918828" "0000433339" "0000918986" "0000433339" "0000919043" "0000433340" "0000918987" "0000433341" "0000918988" "0000433342" "0000918989" "0000433343" "0000918990" "0000433344" "0000918991" "0000433567" "0000919195" "0000433568" "0000919196" "0000433593" "0000919221" "0000433594" "0000919222" "0000433618" "0000919246" "0000433692" "0000919331" "0000433693" "0000919332" "0000433694" "0000919333" "0000433695" "0000919334" "0000433746" "0000919387" "0000433770" "0000919412" "0000433771" "0000919413" "0000433772" "0000919414" "0000433785" "0000919427" "0000433789" "0000919431" "0000433963" "0000919614" "0000433964" "0000919615" "0000433965" "0000919616" "0000433966" "0000919617" "0000434155" "0000919827" "0000434156" "0000919828" "0000434157" "0000919829" "0000434158" "0000919830" "0000434158" "0000919834" "0000434159" "0000919831" "0000434159" "0000919835" "0000434160" "0000919832" "0000434160" "0000919836" "0000434161" "0000919833" "0000434305" "0000919980" "0000434305" "0000919988" "0000434306" "0000919981" "0000434307" "0000919982" "0000434307" "0000919989" "0000434308" "0000919983" "0000434308" "0000919990" "0000434455" "0000920212" "0000434759" "0000920624" "0000434760" "0000920625" "0000434761" "0000920626" "0000434761" "0000920638" "0000434762" "0000920627" "0000434762" "0000920639" "0000434763" "0000920628" "0000434763" "0000920640" "0000434764" "0000920629" "0000434764" "0000920641" "0000434765" "0000920630" "0000434765" "0000920642" "0000434766" "0000920631" "0000434767" "0000920632" "0000434768" "0000920633" "0000434769" "0000920634" "0000434770" "0000920635" "0000434771" "0000920636" "0000434920" "0000920820" "0000434921" "0000920821" "0000434921" "0000920830" "0000434922" "0000920831" "0000434928" "0000920828" "0000434949" "0000920857" "0000434950" "0000920858" "0000434951" "0000920859"