### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITGB2) # 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}}" "ITGB2" "integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)" "21" "q22.3" "unknown" "NC_000021.8" "UD_132118579570" "" "https://www.LOVD.nl/ITGB2" "" "1" "6155" "3689" "600065" "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/ITGB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2022-09-09 10:24:06" "00006" "2025-01-23 20:34:42" ## 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}}" "00001177" "ITGB2" "transcript variant 1" "002" "NM_000211.3" "" "NP_000202.2" "" "" "" "-233" "2725" "2310" "46305868" "46340965" "00000" "2012-09-13 13:16:24" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01240" "LAD1" "leukocyte adhesion deficiency, type I" "AR" "116920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-08-15 16:06:30" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "06956" "LAD" "leukocyte adhesion deficiency" "" "" "" "" "" "00006" "2022-08-15 16:05:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ITGB2" "01240" "ITGB2" "06956" ## Individuals ## Do not remove or alter this header ## ## Count = 446 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00180511" "" "" "" "110" "" "02555" "{PMID:Lee 2014:25155097}" "Korean cohort" "F;M" "" "Korea" "" "0" "{DB:Uveo2994?snp=rs235326&t=1535703522}" "" "Korean" "" "00245209" "" "" "" "1" "" "02967" "{PMID:Bruno 2011:21850686}, {DOI:Bruno 2011:10.1002/humu.21581}" "" "" "" "Australia" "" "0" "" "" "" "Pat6" "00293024" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305892" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "0" "" "" "" "7" "00334546" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335017" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00417866" "" "" "" "1" "" "00006" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "association analysis 106 biliary atresia patients/108 unrelated healthy controls" "" "" "China" "" "0" "" "" "" "cases" "00417867" "" "" "" "1" "" "00006" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "association analysis 106 biliary atresia patients/108 unrelated healthy controls" "" "" "China" "" "0" "" "" "" "cases" "00417868" "" "" "" "1" "" "00006" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "association analysis 106 biliary atresia patients/108 unrelated healthy controls" "" "" "China" "" "0" "" "" "" "cases" "00417869" "" "" "" "1" "" "00006" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "association analysis 106 biliary atresia patients/108 unrelated healthy controls" "" "" "China" "" "0" "" "" "" "cases" "00417870" "" "" "" "1" "" "00006" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "association analysis 106 biliary atresia patients/108 unrelated healthy controls" "" "" "China" "" "0" "" "" "" "cases" "00417871" "" "" "" "1" "" "00006" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "association analysis 106 biliary atresia patients/108 unrelated healthy controls" "" "" "China" "" "0" "" "" "" "cases" "00417872" "" "" "" "1" "" "00006" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "association analysis 106 biliary atresia patients/108 unrelated healthy controls" "" "" "China" "" "0" "" "" "" "cases" "00417876" "" "" "" "1" "" "00006" "{PMID:Cox 2008:17618138}, {DOI:Cox 2008:10.1016/j.tripleo.2007.02.026}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" "00417878" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Iran" "" "0" "" "" "" "Pat1" "00417879" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Iran" "" "0" "" "" "" "Pat2" "00417880" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Iran" "" "0" "" "" "" "Pat3" "00417881" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Iran" "" "0" "" "" "" "Pat4" "00417882" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Iran" "" "0" "" "" "" "Pat5" "00417883" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Iran" "" "0" "" "" "" "Pat6" "00417884" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Iran" "" "0" "" "" "" "Pat7" "00417885" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Iran" "" "0" "" "" "" "Pat8" "00417886" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Teimourian 2019: 29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat9" "00417887" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Iran" "" "0" "" "" "" "Pat10" "00417888" "" "" "" "1" "" "04389" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Iran" "" "0" "" "" "" "Pat11" "00417889" "" "" "" "1" "" "04389" "{PMID:Rivera-Matos 1995:7472832}, {DOI:Rivera-Matos 1995:10.1016/s0022-3476(95)70169-9}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417890" "" "" "" "2" "" "04389" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Pat1" "00417891" "" "" "00417890" "1" "" "04389" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "sister" "00417892" "" "" "" "1" "" "04389" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00417893" "" "" "" "2" "" "04389" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "yes" "Switzerland" "" "0" "" "" "" "Pat3" "00417894" "" "" "00417893" "1" "" "04389" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "brother" "M" "yes" "Switzerland" "" "0" "" "" "" "brother" "00417895" "" "" "" "1" "" "04389" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Pat4" "00417896" "" "" "" "3" "" "04389" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "2-generation family, 3 affected sibs" "M" "" "" "" "0" "" "" "gypsy" "Pat5" "00417897" "" "" "00417896" "1" "" "04389" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "F" "" "" "" "0" "" "" "gypsy" "sib" "00417898" "" "" "00417896" "1" "" "04389" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "F" "" "" "" "0" "" "" "gypsy" "sib" "00417899" "" "" "" "2" "" "04389" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "2 generation family, 2 affected sibs, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatE;Pat6" "00417900" "" "" "00417899" "1" "" "04389" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "sib PatE" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatK" "00417901" "" "" "" "1" "" "04389" "{PMID:Nelson 1992:1346613}, {PMID:Uzel 2008:28328327}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00417902" "" "" "" "1" "" "04389" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00417903" "" "" "" "1" "" "04389" "{PMID:Wardlaw 1990:1694220}, {DOI:Wardlaw 1990:10.1084/jem.172.1.335}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Wright 1995: 7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "M" "" "" "" "0" "" "" "" "Pat14;PatG" "00417904" "" "" "" "1" "" "04389" "{PMID:Sligh 1992:1346132}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "United States" "" "0" "" "" "" "" "00417905" "" "" "" "1" "" "04389" "{PMID:Sligh 1992:1346132}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "United States" "" "0" "" "" "" "" "00417906" "" "" "" "1" "" "04389" "{PMID:Lopez 1993:7901025}, {DOI:Lopez 1993:10.1002/eji.1830231111}" "" "F" "" "" "" "0" "" "" "" "" "00417907" "" "" "" "1" "" "04389" "{PMID:Lopez 1993:7901025}, {DOI:Lopez 1993:10.1002/eji.1830231111}, {PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "?;PatC" "00417908" "" "" "" "1" "" "04389" "{PMID:Fiorini 2002:12377933}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "" "" "0" "" "" "" "" "00417909" "" "" "" "1" "" "04389" "{PMID:Tsai 2008:17651379}, {DOI:Tsai 2008:10.1111/j.1399-3038.2007.00590.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Taiwan" "" "0" "" "" "" "patient" "00417910" "" "" "" "1" "" "04389" "{PMID:Allende 2000:10712675}, {DOI:Allende 2000:10.1046/j.1365-2567.2000.00960.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Spain" "" "0" "" "" "" "" "00417911" "" "" "" "2" "" "04389" "{PMID:Matsuura 1992:1590804}, {DOI:Matsuura 1992:10.1016/s0006-291x(05)80047-6}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "2 generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "PatY" "00417912" "" "" "00417911" "1" "" "04389" "{PMID:Matsuura 1992:1590804}, {DOI:Matsuura 1992:10.1016/s0006-291x(05)80047-6}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "brother" "M" "" "Japan" "" "0" "" "" "" "patient" "00417913" "" "" "" "1" "" "04389" "{PMID:Matsuura 1992:1590804}, {DOI:Matsuura 1992:10.1016/s0006-291x(05)80047-6}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Japan" "" "0" "" "" "" "PatK" "00417914" "" "" "" "1" "" "04389" "{PMID:Hogg 1999:9884339}, {DOI:Hogg 1999:10.1172/JCI3312}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00417915" "" "" "" "1" "" "04389" "{PMID:Wardlaw 1990:1694220}, {DOI:Wardlaw 1990:10.1084/jem.172.1.335}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417916" "" "" "" "1" "" "04389" "{PMID:Corbi 1992:1352501}, {DOI:Corbi 1992:10.1002/eji.1830220730}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417917" "" "" "" "1" "" "04389" "{PMID:Back 1992:1347532}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417918" "" "" "" "1" "" "04389" "{PMID:Ohashi 1993:7509236}, {DOI:Ohashi 1993:10.1002/humu.1380020606}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Japan" "" "0" "" "" "" "" "00417919" "" "" "" "1" "" "04389" "{PMID:Arnaout 1990:1968911}, {DOI:Arnaout 1990:10.1172/JCI114529}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "patient" "00417920" "" "" "" "1" "" "04389" "{PMID:Pollard 2001:11332677}, {DOI:Pollard 2001:10.1097/00006454-200104000-00019}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Canada" "" "0" "" "" "" "" "00417921" "" "" "" "1" "" "04389" "{PMID:Mathew 2000:10886250}, {DOI:Mathew 20000:10.1046/j.1365-2249.2000.01277.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417922" "" "" "" "1" "" "04389" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00417923" "" "" "" "1" "" "04389" "{PMID:Back 1993:7686755}, {DOI:Back 1993:10.1006/bbrc.1993.1712}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417924" "" "" "" "1" "" "04389" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "Hispanic" "family" "00417925" "" "" "" "1" "" "04389" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "Hispanic" "family" "00417926" "" "" "" "1" "" "04389" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "Hispanic" "family" "00417927" "" "" "" "1" "" "04389" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "Hispanic" "family" "00417928" "" "" "" "1" "" "04389" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatB" "00417929" "" "" "" "1" "" "04389" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatC" "00417930" "" "" "" "1" "" "04389" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatR" "00417931" "" "" "" "1" "" "04389" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat1" "00417932" "" "" "" "1" "" "04389" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "2 generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat2" "00417933" "" "" "" "1" "" "04389" "{PMID:Hixson 2004:14512306}, {DOI:Hixson 2004:10.1182/blood-2003-08-2780}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "United States" "" "0" "" "" "" "" "00417934" "" "" "" "1" "" "04389" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417935" "" "" "" "1" "" "04389" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417936" "" "" "" "1" "" "04389" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417937" "" "" "" "1" "" "04389" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417938" "" "" "" "2" "" "04389" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "2 generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "PatA" "00417939" "" "" "" "1" "" "04389" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417940" "" "" "00417938" "1" "" "04389" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "sib" "M" "" "" "" "0" "" "" "" "PatB" "00417941" "" "" "" "1" "" "04389" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "United States" "" "0" "" "" "" "PatD" "00417942" "" "" "" "1" "" "04389" "{PMID:Tone 2007:17244687}, {DOI:Tone 2007:10.1182/blood-2007-08-039057}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00417943" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417944" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417945" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417946" "" "" "" "1" "" "04389" "Law unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "" "" "0" "" "" "" "" "00417947" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417948" "" "" "" "1" "" "04389" "CLB unpunl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Lorusso 2006: 16595236}, {DOI:Lorusso 2006:10.1016/j.fertnstert.2005.03.092}" "" "F" "" "" "" "0" "" "" "" "" "00417949" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417950" "" "" "" "1" "" "04389" "{PMID:Vahlquist 2015:24995649}, {DOI:Vahlquist 2015:10.2340/00015555-1929}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417951" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417952" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417953" "" "" "" "1" "" "04389" "Parvaneh unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417954" "" "" "" "1" "" "04389" "Malawista 2003, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Palestine" "" "0" "" "" "" "" "00417955" "" "" "" "1" "" "04389" "{PMID:Van De Vijver:22134107}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2011.10.004}" "" "M" "" "India" "" "0" "" "" "" "Pat2" "00417956" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:22134107}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "Pat14" "00417957" "" "" "" "1" "" "04389" "Mathews unpubl, Madkaikar unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "F" "" "" "" "0" "" "" "" "" "00417958" "" "" "" "1" "" "04389" "Madkaikar unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "M" "" "" "" "0" "" "" "" "" "00417959" "" "" "" "1" "" "04389" "{PMID:Fiorini 2002:12377933}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "" "" "0" "" "" "" "PatA" "00417960" "" "" "" "1" "" "04389" "{PMID:Fiorini 2002:12377933}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Eyerich 2009:19171538}, {DOI:Eyerich 2009:10.1684/ejd.2008.0552}" "" "F" "" "Italy" "" "0" "" "" "" "PatB" "00417961" "" "" "" "1" "" "04389" "Castriconi 2007, Fiorini 2002, {PMID:Fiorini 2009:19864007}, De Rose 2018, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417962" "" "" "" "1" "" "04389" "Castriconi 2007, De Rose 2018, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00417963" "" "" "" "1" "" "04389" "{PMID:Li 2010:20529581}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "China" "" "0" "" "" "" "" "00417964" "" "" "" "1" "" "04389" "Halioui 2006 , {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Tunisia" "" "0" "" "" "" "" "00417965" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417966" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417967" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417968" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Guan 2015:25514840}, {DOI:Guan 2015:10.1016/j.bcmd.2014.11.005}" "" "F" "" "" "" "0" "" "" "" "" "00417969" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417970" "" "" "" "1" "" "04389" "{PMID:Hinze 2010:20807363}, {DOI:Hinze 2010:10.1111/j.1525-1470.2010.01260.x }, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "United States" "" "0" "" "" "" "" "00417971" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417972" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417973" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417974" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417975" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417976" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417977" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417978" "" "" "" "1" "" "04389" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417979" "" "" "" "1" "" "04389" "Beloh/Schwarz unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Turkey" "" "0" "" "" "" "girl" "00417980" "" "" "" "1" "" "04389" "NIH/Unal unp, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00417981" "" "" "" "1" "" "04389" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Israel" "" "0" "" "" "" "" "00417982" "" "" "" "1" "" "04389" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Israel" "" "0" "" "" "" "" "00417983" "" "" "" "1" "" "04389" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Israel" "" "0" "" "" "" "" "00417984" "" "" "" "1" "" "04389" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Israel" "" "0" "" "" "" "" "00417985" "" "" "" "1" "" "04389" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "Israel" "" "0" "" "" "" "" "00417986" "" "" "" "1" "" "04389" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Israel" "" "0" "" "" "" "" "00417987" "" "" "" "1" "" "04389" "Somech unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417988" "" "" "" "1" "" "04389" "{PMID:Uzel 2010, Abs P256:20136937}, {DOI:Uzel 2010, Abs P256:10.1111/j.1365-2362.2009.02244.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "Pat7" "00417989" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417990" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417991" "" "" "" "1" "" "04389" "Fischer unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417992" "" "" "" "1" "" "04389" "Fischer unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417993" "" "" "" "1" "" "04389" "{PMID:Cher 2011:21195692}, {DOI:Cher 2011:10.1016/j.bbrc.2010.12.124}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "Singapore" "" "0" "" "" "" "" "00417994" "" "" "" "1" "" "04389" "Klein unpubl., , {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417995" "" "" "" "1" "" "04389" "Klein unpubl., , {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417996" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00417997" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417998" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00417999" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00418000" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00418001" "" "" "" "1" "" "04389" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "" "" "0" "" "" "" "" "00418002" "" "" "" "1" "" "04389" "Somech unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "M" "" "" "" "0" "" "" "" "" "00418003" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00418004" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "Pat2" "00418005" "" "" "" "1" "" "04389" "Mathews unpubl, Law unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "F" "" "" "" "0" "" "" "" "" "00418006" "" "" "" "1" "" "04389" "{PMID:Esmaeili 2014:24338230}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00418007" "" "" "" "1" "" "04389" "{PMID:Esmaeili 2014:24338230}" "" "M" "" "" "" "0" "" "" "" "Pat2" "00418008" "" "" "" "1" "" "04389" "{PMID:Esmaeili 2014:24338230}" "" "M" "" "" "" "0" "" "" "" "Pat3" "00418009" "" "" "" "1" "" "04389" "{PMID:Esmaeili 2014:24338230}" "" "M" "" "" "" "0" "" "" "" "Pat4" "00418010" "" "" "" "1" "" "04389" "{PMID:Garcia 2012:21899942}, {DOI:Garcia 2012:10.1016/j.aller.2011.05.013}" "" "M" "" "Spain" "" "0" "" "" "" "" "00418011" "" "" "" "1" "" "04389" "{PMID:Rawat 2011:21553206}, {DOI:Rawat 2011:10.1007/s12098-011-0417-x}" "" "M" "" "India" "" "0" "" "" "" "" "00418012" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "M" "" "Israel" "" "0" "" "" "" "Pat13" "00418013" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat1" "00418014" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat2" "00418015" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat3" "00418016" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Iran" "" "0" "" "" "" "Pat4" "00418017" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat5" "00418018" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat6" "00418019" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Iran" "" "0" "" "" "" "Pat7" "00418020" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat5" "00418021" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat6" "00418022" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat7" "00418023" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat18" "00418024" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat24" "00418025" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat22" "00418026" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat30" "00418027" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat17" "00418028" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat25" "00418029" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat8" "00418030" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Yadav 2021:33325540}, {DOI:Yadav 2021:10.1111/sji.13010}" "" "F" "" "" "" "0" "" "" "" "Pat9" "00418031" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat10" "00418032" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat11" "00418033" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat12" "00418034" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat15" "00418035" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat16" "00418036" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat19" "00418037" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat21" "00418038" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat13" "00418039" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat20" "00418040" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "India" "" "0" "" "" "" "Pat23" "00418041" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Madkaikar 2015:25876705}, {DOI:Madkaikar 2015:10.1007/s10875-015-0155-3}" "" "M" "" "" "" "0" "" "" "" "Pat26" "00418042" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Madkaikar 2015:25876705}, {DOI:Madkaikar 2015:10.1007/s10875-015-0155-3}" "" "F" "" "" "" "0" "" "" "" "Pat27" "00418043" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Madkaikar 2015:25876705}, {DOI:Madkaikar 2015:10.1007/s10875-015-0155-3}" "" "M" "" "" "" "0" "" "" "" "Pat28" "00418044" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "M" "" "" "" "0" "" "" "" "Pat29" "00418045" "" "" "" "1" "" "04389" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "F" "" "India" "" "0" "" "" "" "Pat1" "00418046" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "F" "" "Israel" "" "0" "" "" "" "Pat14" "00418047" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "M" "" "Iran" "" "0" "" "" "" "Pat9" "00418048" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat10" "00418049" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat11" "00418050" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "F" "" "Iran" "" "0" "" "" "" "Pat12" "00418051" "" "" "" "1" "" "04389" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}, {PMID:Teimourian 2017:28445705}, {DOI:Teimourian 2017:10.1016/j.imlet.2017.04.012}" "" "F" "" "Iran" "" "0" "" "" "" "P13" "00418052" "" "" "" "1" "" "04389" "Jafari unpubl., {PMID:Grabowski 2019:30630937}, {DOI:Grabowski 2019:10.1074/mcp.RA118.001141}" "" "F" "" "Germany" "" "0" "" "" "" "" "00418053" "" "" "" "1" "" "04389" "Jafari unpubl., {PMID:Grabowski 2019:30630937}, {DOI:Grabowski 2019:10.1074/mcp.RA118.001141}" "" "M" "" "Germany" "" "0" "" "" "" "" "00418054" "" "" "" "1" "" "04389" "Jafari unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "" "" "0" "" "" "" "" "00418055" "" "" "" "1" "" "04389" "{PMID:Cabanillas 2016:27492259}, {DOI:Cabanillas 2016:10.1007/s10875-016-0322-1}" "" "F" "" "" "" "0" "" "" "" "" "00418056" "" "" "" "1" "" "04389" "{PMID:Celiksoy 2021:34333755}, {DOI:Celiksoy 2021:10.1007/s12026-021-09222-3}" "" "M" "" "Turkey" "" "0" "" "" "" "3 sibs" "00418057" "" "" "" "1" "" "04389" "{PMID:Celiksoy 2021:34333755}, {DOI:Celiksoy 2021:10.1007/s12026-021-09222-3}" "" "M" "" "Turkey" "" "0" "" "" "" "3 sibs" "00418058" "" "" "" "1" "" "04389" "{PMID:Celiksoy 2021:34333755}, {DOI:Celiksoy 2021:10.1007/s12026-021-09222-3}" "" "F" "" "Turkey" "" "0" "" "" "" "3 sibs" "00418059" "" "" "" "1" "" "04389" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "F" "" "Italy" "" "0" "" "" "" "P4" "00418060" "" "" "" "1" "" "04389" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "M" "" "Italy" "" "0" "" "" "" "P6" "00418061" "" "" "" "1" "" "04389" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "M" "" "Italy" "" "0" "" "" "" "P7" "00418062" "" "" "" "1" "" "04389" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "M" "" "Italy" "" "0" "" "" "" "P8" "00418063" "" "" "" "1" "" "04389" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "" "" "0" "" "" "" "L4" "00418064" "" "" "" "1" "" "04389" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "" "" "0" "" "" "" "L6" "00418065" "" "" "" "1" "" "04389" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "" "" "0" "" "" "" "L8" "00418066" "" "" "" "1" "" "04389" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "" "" "0" "" "" "" "L9" "00418067" "" "" "" "1" "" "04389" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "" "" "0" "" "" "" "L11" "00418068" "" "" "" "1" "" "04389" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "" "" "0" "" "" "" "L12" "00418069" "" "" "" "1" "" "04389" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "" "" "0" "" "" "" "L18" "00418070" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "F" "" "Israel" "" "0" "" "" "Arab" "Pat10" "00418071" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "M" "" "Israel" "" "0" "" "" "Arab" "Pat11" "00418072" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "M" "" "Israel" "" "0" "" "" "Arab" "Pat15" "00418073" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "M" "" "Israel" "" "0" "" "" "Arab" "Pat16" "00418074" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "F" "" "Israel" "" "0" "" "" "Arab" "Pat17" "00418075" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "F" "" "Israel" "" "0" "" "" "Arab" "Pat9" "00418076" "" "" "" "1" "" "04389" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "M" "" "Israel" "" "0" "" "" "Arab" "Pat12" "00418077" "" "" "" "1" "" "04389" "Harvey 2020 (Ir Med J. 113:129-131)" "" "M" "" "Ireland" "" "0" "" "" "" "" "00418078" "" "" "" "1" "" "04389" "{PMID:Lin 2018:30078245}, {DOI:Lin 2018:10.3760/cma.j.issn.0578-1310.2018.08.012}, {PMID:Hu 2018:30041527}" "" "F" "" "China" "" "0" "" "" "" "" "00418079" "" "" "" "1" "" "04389" "{PMID:Hu 2014:25443357}, {DOI:Hu 2014:10.1016/j.jfma.2012.11.008}" "" "M" "" "Taiwan" "" "0" "" "" "China" "" "00418080" "" "" "" "1" "" "04389" "{PMID:Kurosawa 2018:28538512}, {DOI:Kurosawa 2018:10.1097/MPH.0000000000000853}" "" "F" "" "Japan" "" "0" "" "" "" "" "00418081" "" "" "" "1" "" "04389" "{PMID:Kwon 2020:32009323}, {DOI:Kwon 2020:10.4168/aair.2020.12.2.292}" "" "F" "" "Korea" "" "0" "" "" "" "" "00418082" "" "" "" "1" "" "04389" "{PMID:Kwon 2020:32009323}, {DOI:Kwon 2020:10.4168/aair.2020.12.2.292}" "" "F" "" "Korea" "" "0" "" "" "" "" "00418083" "" "" "" "1" "" "04389" "{PMID:Lee 2012:23268471}, {DOI:Lee 2012:10.1097/WOX.0b013e31824af5e3}" "" "M" "" "Singapore" "" "0" "" "" "" "Pat5" "00418084" "" "" "" "1" "" "04389" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "F" "" "Iran" "" "0" "" "" "" "" "00418085" "" "" "" "1" "" "04389" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "F" "" "Iran" "" "0" "" "" "" "" "00418086" "" "" "" "1" "" "04389" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "F" "" "Iran" "" "0" "" "" "" "" "00418087" "" "" "" "1" "" "04389" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "F" "" "Iran" "" "0" "" "" "" "" "00418088" "" "" "" "1" "" "04389" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "F" "" "Iran" "" "0" "" "" "" "" "00418089" "" "" "" "1" "" "04389" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418090" "" "" "" "1" "" "04389" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418091" "" "" "" "1" "" "04389" "Mathews unpubl{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "M" "" "India" "" "0" "" "" "" "" "00418092" "" "" "" "1" "" "04389" "Mathews unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "India" "" "0" "" "" "" "" "00418093" "" "" "" "1" "" "04389" "Iran unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "M" "" "Iran" "" "0" "" "" "" "" "00418094" "" "" "" "1" "" "04389" "Köker unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418095" "" "" "" "1" "" "04389" "Köker unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418096" "" "" "" "1" "" "04389" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418097" "" "" "" "1" "" "04389" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "M" "" "Turkey" "" "0" "" "" "" "" "00418098" "" "" "" "1" "" "04389" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418099" "" "" "" "1" "" "04389" "Köker unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Turkey" "" "0" "" "" "" "" "00418100" "" "" "" "1" "" "04389" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "" "" "Turkey" "" "0" "" "" "" "" "00418101" "" "" "" "1" "" "04389" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "" "" "Turkey" "" "0" "" "" "" "" "00418102" "" "" "" "1" "" "04389" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "M" "" "China" "" "0" "" "" "" "Pat1" "00418103" "" "" "" "1" "" "04389" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "F" "" "China" "" "0" "" "" "" "Pat2" "00418104" "" "" "" "1" "" "04389" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "M" "" "China" "" "0" "" "" "" "Pat3" "00418105" "" "" "" "1" "" "04389" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "F" "" "China" "" "0" "" "" "" "Pat4" "00418106" "" "" "" "1" "" "04389" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "F" "" "China" "" "0" "" "" "" "Pat5" "00418107" "" "" "" "1" "" "04389" "{PMID:Qureshi 2020:32793328}, {DOI:Qureshi 2020:10.1016/j.waojou.2020.100133}" "" "F" "" "Pakistan" "" "0" "" "" "" "Pat8" "00418108" "" "" "" "1" "" "04389" "{PMID:Strickler 2015:25858935}, {DOI:Strickler 2015:10.1136/bcr-2014-208973}" "" "F" "" "Chile" "" "0" "" "" "" "" "00418109" "" "" "" "1" "" "04389" "{PMID:Sun 2019:30919141}, {DOI:Sun 2019:10.1007/s10875-019-00617-4}" "" "M" "" "China" "" "0" "" "" "" "Pat6" "00418110" "" "" "" "1" "" "04389" "{PMID:Sun 2019:30919141}, {DOI:Sun 2019:10.1007/s10875-019-00617-4}" "" "F" "" "China" "" "0" "" "" "" "Pat7" "00418111" "" "" "" "1" "" "04389" "{PMID:Teimourian 2017:28445705}, {DOI:Teimourian 2017:10.1016/j.imlet.2017.04.012}" "" "F" "" "Iran" "" "0" "" "" "" "Pat1" "00418112" "" "" "" "1" "" "04389" "{PMID:Teimourian 2017:28445705}, {DOI:Teimourian 2017:10.1016/j.imlet.2017.04.012}" "" "F" "" "Iran" "" "0" "" "" "" "Pat2" "00418113" "" "" "" "1" "" "04389" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "M" "" "Pakistan" "" "0" "" "" "" "Pat1" "00418114" "" "" "" "1" "" "04389" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "M" "" "Pakistan" "" "0" "" "" "" "Pat2" "00418115" "" "" "" "1" "" "04389" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "M" "" "Pakistan" "" "0" "" "" "" "Pat3" "00418116" "" "" "" "1" "" "04389" "{PMID:Tipu 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"" "" "" "Pat10" "00418123" "" "" "" "1" "" "04389" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "F" "" "Pakistan" "" "0" "" "" "" "Pat11" "00418124" "" "" "" "1" "" "04389" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "F" "" "Pakistan" "" "0" "" "" "" "Pat12" "00418125" "" "" "" "1" "" "04389" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "M" "" "Pakistan" "" "0" "" "" "" "Pat13" "00418126" "" "" "" "1" "" "04389" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "F" "" "Pakistan" "" "0" "" "" "" "Pat14" "00418127" "" "" "" "1" "" "04389" "{PMID:Yamazaki-Nakashimada 2015:25527966}, {DOI:Yamazaki-Nakashimada 2015:10.1007/s12026-014-8619-8}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat1" "00418128" "" "" "" "1" "" "04389" "{PMID:Yamazaki-Nakashimada 2015:25527966}, {DOI:Yamazaki-Nakashimada 2015:10.1007/s12026-014-8619-8}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat2" "00418129" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL1" "00418130" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL2" "00418131" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL3" "00418132" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL4" "00418133" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL5" "00418134" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL6" "00418135" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL7" "00418136" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL8" "00418137" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL9" "00418138" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL10" "00418139" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL11" "00418140" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL12" "00418141" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL13" "00418142" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL14" "00418143" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL15" "00418144" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL16" "00418145" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "M" "" "Iran" "" "0" "" "" "" "PatL17" "00418146" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "F" "" "Iran" "" "0" "" "" "" "PatL18" "00418147" "" "" "" "1" "" "04389" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019}" "" "M" "" "Iran" "" "0" "" "" "" "PatL19" "00418148" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat1" "00418149" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat2" "00418150" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat3" "00418151" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat4" "00418152" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat5" "00418153" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat6" "00418154" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat7" "00418155" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "F" "" "Syria" "" "0" "" "" "" "Pat8" "00418156" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Syria" "" "0" "" "" "" "Pat9 2x" "00418157" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Syria" "" "0" "" "" "" "Pat9 2x" "00418158" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Syria" "" "0" "" "" "" "Pat10" "00418159" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Iraq" "" "0" "" "" "" "Pat11" "00418160" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Syria" "" "0" "" "" "" "Pat12 2x" "00418161" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "F" "" "Syria" "" "0" "" "" "" "Pat12 2x" "00418162" "" "" "" "1" "" "04389" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat13" "00418163" "" "" "" "1" "" "04389" "{PMID:Zhang 2019:31374327}, {DOI:Zhang 2019:10.1016/j.gene.2019.144027}" "" "M" "" "China" "" "0" "" "" "" "" "00418164" "" "" "" "1" "" "04389" "Klein unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418165" "" "" "" "1" "" "04389" "Klein unpubl.{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "F" "" "Turkey" "" "0" "" "" "" "" "00418167" "" "" "" "1" "" "04389" "{PMID:Moutsopoulos 2017:28328326}, {DOI:Moutsopoulos 2017:10.1056/NEJMoa1612197}" "" "M" "" "" "" "0" "" "" "" "" "00418168" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "F" "" "India" "" "0" "" "" "" "Pat1" "00418169" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat2" "00418170" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "F" "" "India" "" "0" "" "" "" "Pat3" "00418171" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "F" "" "India" "" "0" "" "" "" "Pat4" "00418172" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat5" "00418173" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat6" "00418174" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "F" "" "India" "" "0" "" "" "" "Pat7" "00418175" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "F" "" "India" "" "0" "" "" "" "Pat8" "00418176" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "F" "" "India" "" "0" "" "" "" "Pat9" "00418177" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat10" "00418178" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat11" "00418179" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat20" "00418180" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat13" "00418181" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat14" "00418182" "" "" "" "1" "" "04389" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "M" "" "India" "" "0" "" "" "" "Pat15" "00418183" "" "" "" "1" "" "04389" 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"Egypt" "" "0" "" "" "" "boy" "00418294" "" "" "" "1" "" "04389" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "F" "" "Pakistan" "" "0" "" "" "" "boy" "00418295" "" "" "" "1" "" "04389" "{PMID:Hao 2021:33942430}, {DOI:Hao 2021:10.1002/humu.24216}" "" "F" "" "China" "" "0" "" "" "" "" "00418296" "" "" "" "1" "" "04389" "{PMID:Stranneheim 2021:33726816}, {DOI:Stranneheim 2021:10.1186/s13073-021-00855-5}" "" "" "" "" "" "0" "" "" "" "" "00418297" "" "" "" "1" "" "04389" "{PMID:Wang 2020:31965297}, {DOI:Wang 2020:10.1007/s00439-019-02103-8}" "" "M" "" "China" "" "0" "" "" "" "boy" "00418298" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat1" "00418299" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "F" "" "Algeria" "" "0" "" "" "" "Pat2" "00418300" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat3" "00418301" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat4" "00418302" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat5" "00418303" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "F" "" "Algeria" "" "0" "" "" "" "Pat6" "00418304" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat7" "00418305" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "F" "" "Algeria" "" "0" "" "" "" "Pat8" "00418306" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "F" "" "Algeria" "" "0" "" "" "" "Pat9" "00418307" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat10" "00418308" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "F" "" "Algeria" "" "0" "" "" "" "Pat11" "00418309" "" "" "" "1" "" "04389" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "M" "" "Algeria" "" "0" "" "" "" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 440 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00180511" "05467" "00245209" "01240" "00293024" "00198" "00305892" "00198" "00334546" "05793" "00335017" "05793" "00417866" "00198" "00417876" "06956" "00417878" "06956" "00417879" "06956" "00417880" "06956" "00417881" "06956" "00417882" "06956" "00417883" "06956" "00417884" "06956" "00417885" "06956" "00417886" "06956" "00417887" "06956" "00417888" "06956" "00417889" "06956" "00417890" "06956" "00417891" "06956" "00417892" "06956" "00417893" "06956" "00417894" "06956" "00417895" "06956" "00417896" "06956" "00417897" "06956" "00417898" "06956" "00417899" "06956" "00417900" "06956" "00417901" "06956" "00417902" "06956" "00417903" "06956" "00417904" "06956" "00417905" "06956" "00417906" "06956" "00417907" 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"00418171" "06956" "00418172" "06956" "00418173" "06956" "00418174" "06956" "00418175" "06956" "00418176" "06956" "00418177" "06956" "00418178" "06956" "00418179" "06956" "00418180" "06956" "00418181" "06956" "00418182" "06956" "00418183" "06956" "00418184" "06956" "00418185" "06956" "00418186" "06956" "00418187" "06956" "00418188" "06956" "00418189" "06956" "00418190" "06956" "00418191" "06956" "00418192" "06956" "00418193" "06956" "00418194" "06956" "00418195" "06956" "00418196" "06956" "00418197" "06956" "00418198" "06956" "00418199" "06956" "00418200" "06956" "00418201" "06956" "00418202" "06956" "00418203" "06956" "00418204" "06956" "00418205" "06956" "00418206" "06956" "00418207" "06956" "00418208" "06956" "00418209" "06956" "00418210" "06956" "00418211" "06956" "00418212" "06956" "00418213" "06956" "00418214" "06956" "00418215" "06956" "00418216" "06956" "00418217" "06956" "00418218" "06956" "00418219" "06956" "00418220" "06956" "00418221" "06956" "00418222" "06956" "00418223" "06956" "00418224" "06956" "00418225" "06956" "00418226" "06956" "00418227" "06956" "00418228" "06956" "00418229" "06956" "00418230" "06956" "00418231" "06956" "00418232" "06956" "00418233" "06956" "00418234" "06956" "00418235" "06956" "00418236" "06956" "00418237" "06956" "00418238" "06956" "00418239" "06956" "00418240" "06956" "00418241" "06956" "00418242" "06956" "00418243" "06956" "00418244" "06956" "00418245" "06956" "00418246" "06956" "00418247" "06956" "00418248" "06956" "00418249" "06956" "00418250" "06956" "00418251" "06956" "00418252" "06956" "00418253" "06956" "00418254" "06956" "00418255" "06956" "00418256" "06956" "00418257" "06956" "00418258" "06956" "00418259" "06956" "00418260" "06956" "00418261" "06956" "00418262" "06956" "00418263" "06956" "00418264" "06956" "00418265" "06956" "00418266" "06956" "00418267" "06956" "00418268" "06956" "00418269" "06956" "00418270" "06956" "00418271" "06956" "00418272" "06956" "00418273" "06956" "00418274" "06956" "00418275" "06956" "00418276" "06956" "00418277" "06956" "00418278" "06956" "00418279" "06956" "00418280" "06956" "00418281" "06956" "00418282" "06956" "00418283" "06956" "00418284" "06956" "00418285" "06956" "00418286" "06956" "00418287" "06956" "00418288" "06956" "00418289" "06956" "00418290" "06956" "00418291" "06956" "00418292" "06956" "00418293" "06956" "00418294" "06956" "00418295" "06956" "00418296" "06956" "00418297" "06956" "00418298" "06956" "00418299" "06956" "00418300" "06956" "00418301" "06956" "00418302" "06956" "00418303" "06956" "00418304" "06956" "00418305" "06956" "00418306" "06956" "00418307" "06956" "00418308" "06956" "00418309" "06956" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01240, 05467, 05793, 06956 ## Count = 439 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000142906" "05467" "00180511" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000231739" "00198" "00305892" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD" "leukocyte adhesion deficiency" "" "0000253236" "05793" "00334546" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253299" "05793" "00335017" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000309239" "00198" "00417866" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "biliary atresia" "" "0000309243" "06956" "00417876" "00006" "Familial, autosomal recessive" "03y" "see paper" "" "" "" "" "" "" "" "" "LAD" "leukocyte adhesion deficiency" "" "0000309245" "06956" "00417878" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309246" "06956" "00417879" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309247" "06956" "00417880" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309248" "06956" "00417881" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309249" "06956" "00417882" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309250" "06956" "00417883" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309251" "06956" "00417884" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309252" "06956" "00417885" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309253" "06956" "00417886" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309254" "06956" "00417887" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309255" "06956" "00417888" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309256" "06956" "00417889" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309257" "06956" "00417890" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309258" "06956" "00417891" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309259" "06956" "00417892" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309260" "06956" "00417893" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309261" "06956" "00417894" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309262" "06956" "00417895" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309263" "06956" "00417896" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309264" "06956" "00417897" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309265" "06956" "00417898" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309266" "06956" "00417899" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309267" "06956" "00417900" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309268" "06956" "00417901" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309269" "06956" "00417902" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309270" "06956" "00417903" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309271" "06956" "00417904" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309272" "06956" "00417905" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309273" "06956" "00417906" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309274" "06956" "00417907" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309275" "06956" "00417908" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309276" "06956" "00417909" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309277" "06956" "00417910" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309278" "06956" "00417911" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309279" "06956" "00417912" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309280" "06956" "00417913" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309281" "06956" "00417914" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309282" "06956" "00417915" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309283" "06956" "00417916" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309284" "06956" "00417917" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309285" "06956" "00417918" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309286" "06956" "00417919" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309287" "06956" "00417920" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309288" "06956" "00417921" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+/-" "leukocyte adhesion deficiency" "" "0000309289" "06956" "00417922" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309290" "06956" "00417923" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309291" "06956" "00417924" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309292" "06956" "00417925" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309293" "06956" "00417926" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309294" "06956" "00417927" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309295" "06956" "00417928" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0/-" "leukocyte adhesion deficiency" "" "0000309296" "06956" "00417929" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309297" "06956" "00417930" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309298" "06956" "00417931" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309299" "06956" "00417932" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309300" "06956" "00417933" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309301" "06956" "00417934" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309302" "06956" "00417935" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309303" "06956" "00417936" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309304" "06956" "00417937" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309305" "06956" "00417938" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309306" "06956" "00417939" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309307" "06956" "00417940" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309308" "06956" "00417941" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309309" "06956" "00417942" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309310" "06956" "00417943" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309311" "06956" "00417944" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309312" "06956" "00417945" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309313" "06956" "00417946" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309314" "06956" "00417947" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309315" "06956" "00417948" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309316" "06956" "00417949" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309317" "06956" "00417950" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309318" "06956" "00417951" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309319" "06956" "00417952" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309320" "06956" "00417953" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309321" "06956" "00417954" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309322" "06956" "00417955" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309323" "06956" "00417956" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309324" "06956" "00417957" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309325" "06956" "00417958" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309326" "06956" "00417959" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309327" "06956" "00417960" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0/-" "leukocyte adhesion deficiency" "" "0000309328" "06956" "00417961" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309329" "06956" "00417962" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309330" "06956" "00417963" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309331" "06956" "00417964" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309332" "06956" "00417965" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309333" "06956" "00417966" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309334" "06956" "00417967" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309335" "06956" "00417968" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309336" "06956" "00417969" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309337" "06956" "00417970" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309338" "06956" "00417971" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309339" "06956" "00417972" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309340" "06956" "00417973" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309341" "06956" "00417974" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309342" "06956" "00417975" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309343" "06956" "00417976" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309344" "06956" "00417977" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309345" "06956" "00417978" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309346" "06956" "00417979" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309347" "06956" "00417980" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309348" "06956" "00417981" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0/-" "leukocyte adhesion deficiency" "" "0000309349" "06956" "00417982" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0/-" "leukocyte adhesion deficiency" "" "0000309350" "06956" "00417983" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0/-" "leukocyte adhesion deficiency" "" "0000309351" "06956" "00417984" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309352" "06956" "00417985" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309353" "06956" "00417986" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309354" "06956" "00417987" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309355" "06956" "00417988" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309356" "06956" "00417989" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309357" "06956" "00417990" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309358" "06956" "00417991" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309359" "06956" "00417992" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309360" "06956" "00417993" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309361" "06956" "00417994" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309362" "06956" "00417995" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309363" "06956" "00417996" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309364" "06956" "00417997" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309365" "06956" "00417998" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309366" "06956" "00417999" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309367" "06956" "00418000" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0/-" "leukocyte adhesion deficiency" "" "0000309368" "06956" "00418001" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309369" "06956" "00418002" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309370" "06956" "00418003" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309371" "06956" "00418004" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309372" "06956" "00418005" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309373" "06956" "00418006" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309374" "06956" "00418007" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309375" "06956" "00418008" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309376" "06956" "00418009" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309377" "06956" "00418010" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309378" "06956" "00418011" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309379" "06956" "00418012" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-/+" "leukocyte adhesion deficiency" "" "0000309380" "06956" "00418013" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309381" "06956" "00418014" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309382" "06956" "00418015" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309383" "06956" "00418016" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309384" "06956" "00418017" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309385" "06956" "00418018" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309386" "06956" "00418019" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309387" "06956" "00418020" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309388" "06956" "00418021" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309389" "06956" "00418022" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309390" "06956" "00418023" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309391" "06956" "00418024" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309392" "06956" "00418025" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309393" "06956" "00418026" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309394" "06956" "00418027" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309395" "06956" "00418028" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309396" "06956" "00418029" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309397" "06956" "00418030" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309398" "06956" "00418031" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309399" "06956" "00418032" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309400" "06956" "00418033" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309401" "06956" "00418034" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309402" "06956" "00418035" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309403" "06956" "00418036" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309404" "06956" "00418037" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309405" "06956" "00418038" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309406" "06956" "00418039" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309407" "06956" "00418040" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309408" "06956" "00418041" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309409" "06956" "00418042" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309410" "06956" "00418043" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309411" "06956" "00418044" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309412" "06956" "00418045" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309413" "06956" "00418046" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309414" "06956" "00418047" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309415" "06956" "00418048" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309416" "06956" "00418049" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309417" "06956" "00418050" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309418" "06956" "00418051" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309419" "06956" "00418052" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309420" "06956" "00418053" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309421" "06956" "00418054" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309422" "06956" "00418055" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309423" "06956" "00418056" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309424" "06956" "00418057" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309425" "06956" "00418058" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-" "leukocyte adhesion deficiency" "" "0000309426" "06956" "00418059" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309427" "06956" "00418060" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I-/+" "leukocyte adhesion deficiency" "" "0000309428" "06956" "00418061" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309429" "06956" "00418062" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309430" "06956" "00418063" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309431" "06956" "00418064" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309432" "06956" "00418065" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309433" "06956" "00418066" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309434" "06956" "00418067" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309435" "06956" "00418068" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309436" "06956" "00418069" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309437" "06956" "00418070" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309438" "06956" "00418071" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309439" "06956" "00418072" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309440" "06956" "00418073" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309441" "06956" "00418074" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309442" "06956" "00418075" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309443" "06956" "00418076" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309444" "06956" "00418077" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309445" "06956" "00418078" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309446" "06956" "00418079" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309447" "06956" "00418080" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309448" "06956" "00418081" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309449" "06956" "00418082" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309450" "06956" "00418083" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309451" "06956" "00418084" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309452" "06956" "00418085" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309453" "06956" "00418086" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309454" "06956" "00418087" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309455" "06956" "00418088" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309456" "06956" "00418089" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309457" "06956" "00418090" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309458" "06956" "00418091" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309459" "06956" "00418092" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309460" "06956" "00418093" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309461" "06956" "00418094" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309462" "06956" "00418095" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309463" "06956" "00418096" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309464" "06956" "00418097" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309465" "06956" "00418098" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309466" "06956" "00418099" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309467" "06956" "00418100" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309468" "06956" "00418101" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309469" "06956" "00418102" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309470" "06956" "00418103" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309471" "06956" "00418104" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309472" "06956" "00418105" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309473" "06956" "00418106" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309474" "06956" "00418107" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309475" "06956" "00418108" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309476" "06956" "00418109" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309477" "06956" "00418110" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309478" "06956" "00418111" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0/՟" "leukocyte adhesion deficiency" "" "0000309479" "06956" "00418112" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309480" "06956" "00418113" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309481" "06956" "00418114" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309482" "06956" "00418115" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309483" "06956" "00418116" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309484" "06956" "00418117" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309485" "06956" "00418118" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309486" "06956" "00418119" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309487" "06956" "00418120" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309488" "06956" "00418121" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309489" "06956" "00418122" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309490" "06956" "00418123" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309491" "06956" "00418124" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309492" "06956" "00418125" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309493" "06956" "00418126" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309494" "06956" "00418127" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309495" "06956" "00418128" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309496" "06956" "00418129" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309497" "06956" "00418130" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309498" "06956" "00418131" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309499" "06956" "00418132" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309500" "06956" "00418133" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309501" "06956" "00418134" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309502" "06956" "00418135" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309503" "06956" "00418136" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309504" "06956" "00418137" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309505" "06956" "00418138" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309506" "06956" "00418139" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309507" "06956" "00418140" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309508" "06956" "00418141" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309509" "06956" "00418142" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309510" "06956" "00418143" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309511" "06956" "00418144" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309512" "06956" "00418145" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309513" "06956" "00418146" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309514" "06956" "00418147" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309515" "06956" "00418148" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309516" "06956" "00418149" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309517" "06956" "00418150" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309518" "06956" "00418151" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309519" "06956" "00418152" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309520" "06956" "00418153" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309521" "06956" "00418154" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309522" "06956" "00418155" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309523" "06956" "00418156" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309524" "06956" "00418157" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309525" "06956" "00418158" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309526" "06956" "00418159" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309527" "06956" "00418160" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309528" "06956" "00418161" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309529" "06956" "00418162" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309530" "06956" "00418163" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309531" "06956" "00418164" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309532" "06956" "00418165" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309534" "06956" "00418167" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309535" "06956" "00418168" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukocyte adhesion deficiency" "" "0000309536" "06956" "00418169" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "leukocyte adhesion deficiency" "" "0000309537" "06956" "00418170" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309538" "06956" "00418171" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309539" "06956" "00418172" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309540" "06956" "00418173" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309541" "06956" "00418174" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309542" "06956" "00418175" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309543" "06956" "00418176" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309544" "06956" "00418177" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309545" "06956" "00418178" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309546" "06956" "00418179" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309547" "06956" "00418180" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309548" "06956" "00418181" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309549" "06956" "00418182" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309550" "06956" "00418183" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309551" "06956" "00418184" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309552" "06956" "00418185" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309553" "06956" "00418186" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309554" "06956" "00418187" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309555" "06956" "00418188" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309556" "06956" "00418189" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309557" "06956" "00418190" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309558" "06956" "00418191" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309559" "06956" "00418192" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309560" "06956" "00418193" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309561" "06956" "00418194" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309562" "06956" "00418195" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309563" "06956" "00418196" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309564" "06956" "00418197" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309565" "06956" "00418198" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309566" "06956" "00418199" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309567" "06956" "00418200" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309568" "06956" "00418201" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309569" "06956" "00418202" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309570" "06956" "00418203" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309571" "06956" "00418204" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309572" "06956" "00418205" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309573" "06956" "00418206" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309574" "06956" "00418207" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309575" "06956" "00418208" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309576" "06956" "00418209" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309577" "06956" "00418210" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309578" "06956" "00418211" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309579" "06956" "00418212" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309580" "06956" "00418213" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309581" "06956" "00418214" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309582" "06956" "00418215" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309583" "06956" "00418216" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309584" "06956" "00418217" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309585" "06956" "00418218" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309586" "06956" "00418219" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309587" "06956" "00418220" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309588" "06956" "00418221" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309589" "06956" "00418222" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309590" "06956" "00418223" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309591" "06956" "00418224" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309592" "06956" "00418225" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309593" "06956" "00418226" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309594" "06956" "00418227" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309595" "06956" "00418228" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309596" "06956" "00418229" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309597" "06956" "00418230" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309598" "06956" "00418231" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309599" "06956" "00418232" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309600" "06956" "00418233" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309601" "06956" "00418234" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309602" "06956" "00418235" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309603" "06956" "00418236" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309604" "06956" "00418237" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309605" "06956" "00418238" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309606" "06956" "00418239" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309607" "06956" "00418240" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309608" "06956" "00418241" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309609" "06956" "00418242" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309610" "06956" "00418243" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309611" "06956" "00418244" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309612" "06956" "00418245" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309613" "06956" "00418246" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309614" "06956" "00418247" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I՟" "leukocyte adhesion deficiency" "" "0000309615" "06956" "00418248" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309616" "06956" "00418249" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309617" "06956" "00418250" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309618" "06956" "00418251" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309619" "06956" "00418252" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309620" "06956" "00418253" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309621" "06956" "00418254" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309622" "06956" "00418255" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309623" "06956" "00418256" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309624" "06956" "00418257" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309625" "06956" "00418258" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309626" "06956" "00418259" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309627" "06956" "00418260" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309628" "06956" "00418261" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309629" "06956" "00418262" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309630" "06956" "00418263" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309631" "06956" "00418264" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309632" "06956" "00418265" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309633" "06956" "00418266" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309634" "06956" "00418267" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309635" "06956" "00418268" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309636" "06956" "00418269" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309637" "06956" "00418270" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309638" "06956" "00418271" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309639" "06956" "00418272" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309640" "06956" "00418273" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309641" "06956" "00418274" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309642" "06956" "00418275" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309643" "06956" "00418276" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309644" "06956" "00418277" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309645" "06956" "00418278" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309646" "06956" "00418279" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309647" "06956" "00418280" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I+" "leukocyte adhesion deficiency" "" "0000309648" "06956" "00418281" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309649" "06956" "00418282" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309650" "06956" "00418283" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309651" "06956" "00418284" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309652" "06956" "00418285" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309653" "06956" "00418286" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309654" "06956" "00418287" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309655" "06956" "00418288" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309656" "06956" "00418289" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309657" "06956" "00418290" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309658" "06956" "00418291" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309659" "06956" "00418292" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309660" "06956" "00418293" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309661" "06956" "00418294" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309662" "06956" "00418295" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309663" "06956" "00418296" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309664" "06956" "00418297" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I?" "leukocyte adhesion deficiency" "" "0000309665" "06956" "00418298" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309666" "06956" "00418299" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309667" "06956" "00418300" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309668" "06956" "00418301" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309669" "06956" "00418302" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309670" "06956" "00418303" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309671" "06956" "00418304" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309672" "06956" "00418305" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309673" "06956" "00418306" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309674" "06956" "00418307" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309675" "06956" "00418308" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309676" "06956" "00418309" "04389" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" "0000309677" "01240" "00245209" "02967" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LAD-I0" "leukocyte adhesion deficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 446 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000181448" "00180511" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000246321" "00245209" "1" "02967" "02967" "2011-06-30 07:27:23" "00006" "2011-06-30 16:25:45" "SEQ" "DNA" "" "" "0000294192" "00293024" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307023" "00305892" "1" "03695" "03695" "2020-07-05 13:45:58" "" "" "SEQ-NG" "DNA" "" "" "0000335775" "00334546" "1" "04011" "04011" "2021-03-01 14:30:48" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336246" "00335017" "1" "04011" "04011" "2021-03-03 02:58:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000419161" "00417866" "1" "00006" "00006" "2022-09-27 12:31:07" "" "" "SEQ" "DNA" "" "" "0000419162" "00417867" "1" "00006" "00006" "2022-09-27 12:31:07" "" "" "SEQ" "DNA" "" "" "0000419163" "00417868" "1" "00006" "00006" "2022-09-27 12:40:34" "" "" "SEQ" "DNA" "" "" "0000419164" "00417869" "1" "00006" "00006" "2022-09-27 12:41:13" "" "" "SEQ" "DNA" "" "" "0000419165" "00417870" "1" "00006" "00006" "2022-09-27 12:41:26" "" "" "SEQ" "DNA" "" "" "0000419166" "00417871" "1" "00006" "00006" "2022-09-27 12:41:38" "" "" "SEQ" "DNA" "" "" "0000419167" "00417872" "1" "00006" "00006" "2022-09-27 12:41:50" "" "" "SEQ" "DNA" "" "" "0000419171" "00417876" "1" "00006" "00006" "2022-09-27 15:16:55" "" "" "SEQ" "DNA" "" "" "0000419173" "00417878" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419174" "00417879" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419175" "00417880" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419176" "00417881" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419177" "00417882" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419178" "00417883" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419179" "00417884" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419180" "00417885" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419181" "00417886" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419182" "00417887" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419183" "00417888" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419184" "00417889" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419185" "00417890" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419186" "00417891" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419187" "00417892" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419188" "00417893" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419189" "00417894" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419190" "00417895" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419191" "00417896" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419192" "00417897" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419193" "00417898" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419194" "00417899" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419195" "00417900" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419196" "00417901" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419197" "00417902" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419198" "00417903" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419199" "00417904" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419200" "00417905" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419201" "00417906" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419202" "00417907" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419203" "00417908" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419204" "00417909" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419205" "00417910" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419206" "00417911" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419207" "00417912" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419208" "00417913" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419209" "00417914" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419210" "00417915" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419211" "00417916" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419212" "00417917" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419213" "00417918" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419214" "00417919" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419215" "00417920" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419216" "00417921" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419217" "00417922" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419218" "00417923" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419219" "00417924" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419220" "00417925" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419221" "00417926" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419222" "00417927" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419223" "00417928" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419224" "00417929" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419225" "00417930" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419226" "00417931" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419227" "00417932" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419228" "00417933" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419229" "00417934" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419230" "00417935" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419231" "00417936" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419232" "00417937" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419233" "00417938" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419234" "00417939" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419235" "00417940" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419236" "00417941" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419237" "00417942" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419238" "00417943" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419239" "00417944" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419240" "00417945" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419241" "00417946" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419242" "00417947" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419243" "00417948" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419244" "00417949" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419245" "00417950" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419246" "00417951" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419247" "00417952" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419248" "00417953" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419249" "00417954" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419250" "00417955" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419251" "00417956" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419252" "00417957" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419253" "00417958" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419254" "00417959" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419255" "00417960" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419256" "00417961" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419257" "00417962" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419258" "00417963" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419259" "00417964" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419260" "00417965" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419261" "00417966" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419262" "00417967" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419263" "00417968" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419264" "00417969" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419265" "00417970" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419266" "00417971" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419267" "00417972" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419268" "00417973" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419269" "00417974" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419270" "00417975" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419271" "00417976" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419272" "00417977" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419273" "00417978" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419274" "00417979" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419275" "00417980" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419276" "00417981" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419277" "00417982" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419278" "00417983" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419279" "00417984" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419280" "00417985" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419281" "00417986" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419282" "00417987" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419283" "00417988" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419284" "00417989" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419285" "00417990" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419286" "00417991" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419287" "00417992" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419288" "00417993" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419289" "00417994" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419290" "00417995" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419291" "00417996" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419292" "00417997" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419293" "00417998" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419294" "00417999" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419295" "00418000" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419296" "00418001" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419297" "00418002" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419298" "00418003" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419299" "00418004" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419300" "00418005" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419301" "00418006" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419302" "00418007" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419303" "00418008" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419304" "00418009" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419305" "00418010" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419306" "00418011" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419307" "00418012" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419308" "00418013" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419309" "00418014" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419310" "00418015" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419311" "00418016" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419312" "00418017" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419313" "00418018" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419314" "00418019" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419315" "00418020" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419316" "00418021" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419317" "00418022" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419318" "00418023" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419319" "00418024" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419320" "00418025" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419321" "00418026" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419322" "00418027" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419323" "00418028" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419324" "00418029" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419325" "00418030" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419326" "00418031" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419327" "00418032" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419328" "00418033" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419329" "00418034" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419330" "00418035" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419331" "00418036" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419332" "00418037" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419333" "00418038" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419334" "00418039" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419335" "00418040" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419336" "00418041" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419337" "00418042" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419338" "00418043" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419339" "00418044" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419340" "00418045" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419341" "00418046" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419342" "00418047" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419343" "00418048" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419344" "00418049" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419345" "00418050" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419346" "00418051" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419347" "00418052" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419348" "00418053" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419349" "00418054" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419350" "00418055" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419351" "00418056" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419352" "00418057" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419353" "00418058" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419354" "00418059" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419355" "00418060" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419356" "00418061" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419357" "00418062" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419358" "00418063" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419359" "00418064" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419360" "00418065" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419361" "00418066" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419362" "00418067" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419363" "00418068" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419364" "00418069" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419365" "00418070" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419366" "00418071" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419367" "00418072" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419368" "00418073" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419369" "00418074" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419370" "00418075" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419371" "00418076" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419372" "00418077" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419373" "00418078" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419374" "00418079" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419375" "00418080" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419376" "00418081" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419377" "00418082" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419378" "00418083" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419379" "00418084" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419380" "00418085" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419381" "00418086" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419382" "00418087" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419383" "00418088" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419384" "00418089" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419385" "00418090" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419386" "00418091" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419387" "00418092" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419388" "00418093" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419389" "00418094" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419390" "00418095" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419391" "00418096" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419392" "00418097" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419393" "00418098" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419394" "00418099" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419395" "00418100" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419396" "00418101" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419397" "00418102" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419398" "00418103" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419399" "00418104" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419400" "00418105" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419401" "00418106" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419402" "00418107" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419403" "00418108" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419404" "00418109" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419405" "00418110" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419406" "00418111" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419407" "00418112" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419408" "00418113" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419409" "00418114" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419410" "00418115" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419411" "00418116" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419412" "00418117" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419413" "00418118" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419414" "00418119" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419415" "00418120" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419416" "00418121" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419417" "00418122" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419418" "00418123" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419419" "00418124" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419420" "00418125" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419421" "00418126" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419422" "00418127" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419423" "00418128" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419424" "00418129" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419425" "00418130" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419426" "00418131" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419427" "00418132" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419428" "00418133" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419429" "00418134" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419430" "00418135" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419431" "00418136" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419432" "00418137" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419433" "00418138" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419434" "00418139" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419435" "00418140" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419436" "00418141" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419437" "00418142" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419438" "00418143" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419439" "00418144" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419440" "00418145" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419441" "00418146" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419442" "00418147" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419443" "00418148" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419444" "00418149" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000419445" "00418150" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419446" "00418151" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419447" "00418152" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419448" "00418153" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419449" "00418154" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419450" "00418155" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419451" "00418156" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419452" "00418157" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419453" "00418158" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419454" "00418159" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419455" "00418160" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419456" "00418161" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419457" "00418162" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419458" "00418163" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419459" "00418164" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419460" "00418165" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419462" "00418167" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419463" "00418168" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419464" "00418169" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419465" "00418170" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419466" "00418171" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419467" "00418172" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419468" "00418173" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419469" "00418174" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419470" "00418175" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419471" "00418176" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419472" "00418177" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419473" "00418178" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419474" "00418179" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419475" "00418180" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419476" "00418181" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419477" "00418182" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419478" "00418183" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419479" "00418184" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419480" "00418185" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419481" "00418186" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419482" "00418187" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419483" "00418188" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419484" "00418189" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419485" "00418190" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419486" "00418191" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419487" "00418192" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419488" "00418193" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419489" "00418194" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419490" "00418195" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419491" "00418196" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419492" "00418197" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419493" "00418198" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419494" "00418199" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419495" "00418200" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419496" "00418201" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419497" "00418202" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419498" "00418203" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419499" "00418204" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419500" "00418205" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419501" "00418206" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419502" "00418207" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419503" "00418208" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419504" "00418209" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419505" "00418210" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419506" "00418211" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419507" "00418212" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419508" "00418213" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419509" "00418214" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419510" "00418215" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419511" "00418216" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419512" "00418217" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419513" "00418218" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419514" "00418219" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419515" "00418220" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419516" "00418221" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419517" "00418222" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419518" "00418223" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419519" "00418224" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419520" "00418225" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419521" "00418226" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419522" "00418227" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419523" "00418228" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419524" "00418229" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419525" "00418230" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419526" "00418231" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419527" "00418232" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419528" "00418233" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419529" "00418234" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419530" "00418235" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419531" "00418236" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419532" "00418237" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419533" "00418238" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419534" "00418239" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419535" "00418240" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419536" "00418241" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419537" "00418242" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419538" "00418243" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419539" "00418244" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419540" "00418245" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419541" "00418246" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419542" "00418247" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419543" "00418248" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419544" "00418249" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419545" "00418250" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419546" "00418251" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419547" "00418252" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419548" "00418253" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419549" "00418254" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419550" "00418255" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419551" "00418256" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419552" "00418257" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419553" "00418258" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419554" "00418259" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419555" "00418260" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419556" "00418261" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419557" "00418262" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419558" "00418263" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419559" "00418264" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419560" "00418265" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419561" "00418266" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419562" "00418267" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419563" "00418268" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419564" "00418269" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419565" "00418270" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419566" "00418271" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419567" "00418272" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419568" "00418273" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419569" "00418274" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419570" "00418275" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419571" "00418276" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419572" "00418277" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419573" "00418278" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419574" "00418279" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419575" "00418280" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419576" "00418281" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419577" "00418282" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419578" "00418283" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419579" "00418284" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419580" "00418285" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419581" "00418286" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419582" "00418287" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419583" "00418288" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419584" "00418289" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419585" "00418290" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419586" "00418291" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419587" "00418292" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419588" "00418293" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419589" "00418294" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419590" "00418295" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419591" "00418296" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419592" "00418297" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419593" "00418298" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419594" "00418299" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419595" "00418300" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419596" "00418301" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419597" "00418302" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419598" "00418303" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419599" "00418304" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419600" "00418305" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419601" "00418306" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419602" "00418307" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419603" "00418308" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" "0000419604" "00418309" "1" "04389" "00006" "2022-09-27 16:04:35" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 441 "{{screeningid}}" "{{geneid}}" "0000246321" "ITGB2" "0000307023" "ITGB2" "0000419161" "ITGB2" "0000419162" "ITGB2" "0000419163" "ITGB2" "0000419164" "ITGB2" "0000419165" "ITGB2" "0000419166" "ITGB2" "0000419167" "ITGB2" "0000419171" "ITGB2" "0000419173" "ITGB2" "0000419174" "ITGB2" "0000419175" "ITGB2" "0000419176" "ITGB2" "0000419177" "ITGB2" "0000419178" "ITGB2" "0000419179" "ITGB2" "0000419180" "ITGB2" "0000419181" "ITGB2" "0000419182" "ITGB2" "0000419183" "ITGB2" "0000419184" "ITGB2" "0000419185" "ITGB2" "0000419186" "ITGB2" "0000419187" "ITGB2" "0000419188" "ITGB2" "0000419189" "ITGB2" "0000419190" "ITGB2" "0000419191" "ITGB2" "0000419192" "ITGB2" "0000419193" "ITGB2" "0000419194" "ITGB2" "0000419195" "ITGB2" "0000419196" "ITGB2" "0000419197" "ITGB2" "0000419198" "ITGB2" "0000419199" "ITGB2" "0000419200" "ITGB2" "0000419201" "ITGB2" "0000419202" "ITGB2" "0000419203" "ITGB2" "0000419204" "ITGB2" "0000419205" "ITGB2" "0000419206" "ITGB2" "0000419207" "ITGB2" "0000419208" "ITGB2" "0000419209" "ITGB2" "0000419210" "ITGB2" "0000419211" "ITGB2" "0000419212" "ITGB2" "0000419213" "ITGB2" "0000419214" "ITGB2" "0000419215" "ITGB2" "0000419216" "ITGB2" "0000419217" "ITGB2" "0000419218" "ITGB2" "0000419219" "ITGB2" "0000419220" "ITGB2" "0000419221" "ITGB2" "0000419222" "ITGB2" "0000419223" "ITGB2" "0000419224" "ITGB2" "0000419225" "ITGB2" "0000419226" "ITGB2" "0000419227" "ITGB2" "0000419228" "ITGB2" "0000419229" "ITGB2" "0000419230" "ITGB2" "0000419231" "ITGB2" "0000419232" "ITGB2" "0000419233" "ITGB2" "0000419234" "ITGB2" "0000419235" "ITGB2" "0000419236" "ITGB2" "0000419237" "ITGB2" "0000419238" "ITGB2" "0000419239" "ITGB2" "0000419240" "ITGB2" "0000419241" "ITGB2" "0000419242" "ITGB2" "0000419243" "ITGB2" "0000419244" "ITGB2" "0000419245" "ITGB2" "0000419246" "ITGB2" "0000419247" "ITGB2" "0000419248" "ITGB2" "0000419249" "ITGB2" "0000419250" "ITGB2" "0000419251" "ITGB2" "0000419252" "ITGB2" "0000419253" "ITGB2" "0000419254" "ITGB2" "0000419255" "ITGB2" "0000419256" "ITGB2" "0000419257" "ITGB2" "0000419258" "ITGB2" "0000419259" "ITGB2" "0000419260" "ITGB2" "0000419261" "ITGB2" "0000419262" "ITGB2" "0000419263" "ITGB2" "0000419264" "ITGB2" "0000419265" "ITGB2" "0000419266" "ITGB2" "0000419267" "ITGB2" "0000419268" "ITGB2" "0000419269" "ITGB2" "0000419270" "ITGB2" "0000419271" "ITGB2" "0000419272" "ITGB2" "0000419273" "ITGB2" "0000419274" "ITGB2" "0000419275" "ITGB2" "0000419276" "ITGB2" "0000419277" "ITGB2" "0000419278" "ITGB2" "0000419279" "ITGB2" "0000419280" "ITGB2" "0000419281" "ITGB2" "0000419282" "ITGB2" "0000419283" "ITGB2" "0000419284" "ITGB2" "0000419285" "ITGB2" "0000419286" "ITGB2" "0000419287" "ITGB2" "0000419288" "ITGB2" "0000419289" "ITGB2" "0000419290" "ITGB2" "0000419291" "ITGB2" "0000419292" "ITGB2" "0000419293" "ITGB2" "0000419294" "ITGB2" "0000419295" "ITGB2" "0000419296" "ITGB2" "0000419297" "ITGB2" "0000419298" "ITGB2" "0000419299" "ITGB2" "0000419300" "ITGB2" "0000419301" "ITGB2" "0000419302" "ITGB2" "0000419303" "ITGB2" "0000419304" "ITGB2" "0000419305" "ITGB2" "0000419306" "ITGB2" "0000419307" "ITGB2" "0000419308" "ITGB2" "0000419309" "ITGB2" "0000419310" "ITGB2" "0000419311" "ITGB2" "0000419312" "ITGB2" "0000419313" "ITGB2" "0000419314" "ITGB2" "0000419315" "ITGB2" "0000419316" "ITGB2" "0000419317" "ITGB2" "0000419318" "ITGB2" "0000419319" "ITGB2" "0000419320" "ITGB2" "0000419321" "ITGB2" "0000419322" "ITGB2" "0000419323" "ITGB2" "0000419324" "ITGB2" "0000419325" "ITGB2" "0000419326" "ITGB2" "0000419327" "ITGB2" "0000419328" "ITGB2" "0000419329" "ITGB2" "0000419330" "ITGB2" "0000419331" "ITGB2" "0000419332" "ITGB2" "0000419333" "ITGB2" "0000419334" "ITGB2" "0000419335" "ITGB2" "0000419336" "ITGB2" "0000419337" "ITGB2" "0000419338" "ITGB2" "0000419339" "ITGB2" "0000419340" "ITGB2" "0000419341" "ITGB2" "0000419342" "ITGB2" "0000419343" "ITGB2" "0000419344" "ITGB2" "0000419345" "ITGB2" "0000419346" "ITGB2" "0000419347" "ITGB2" "0000419348" "ITGB2" "0000419349" "ITGB2" "0000419350" "ITGB2" "0000419351" "ITGB2" "0000419352" "ITGB2" "0000419353" "ITGB2" "0000419354" "ITGB2" "0000419355" "ITGB2" "0000419356" "ITGB2" "0000419357" "ITGB2" "0000419358" "ITGB2" "0000419359" "ITGB2" "0000419360" "ITGB2" "0000419361" "ITGB2" "0000419362" "ITGB2" "0000419363" "ITGB2" "0000419364" "ITGB2" "0000419365" "ITGB2" "0000419366" "ITGB2" "0000419367" "ITGB2" "0000419368" "ITGB2" "0000419369" "ITGB2" "0000419370" "ITGB2" "0000419371" "ITGB2" "0000419372" "ITGB2" "0000419373" "ITGB2" "0000419374" "ITGB2" "0000419375" "ITGB2" "0000419376" "ITGB2" "0000419377" "ITGB2" "0000419378" "ITGB2" "0000419379" "ITGB2" "0000419380" "ITGB2" "0000419381" "ITGB2" "0000419382" "ITGB2" "0000419383" "ITGB2" "0000419384" "ITGB2" "0000419385" "ITGB2" "0000419386" "ITGB2" "0000419387" "ITGB2" "0000419388" "ITGB2" "0000419389" "ITGB2" "0000419390" "ITGB2" "0000419391" "ITGB2" "0000419392" "ITGB2" "0000419393" "ITGB2" "0000419394" "ITGB2" "0000419395" "ITGB2" "0000419396" "ITGB2" "0000419397" "ITGB2" "0000419398" "ITGB2" "0000419399" "ITGB2" "0000419400" "ITGB2" "0000419401" "ITGB2" "0000419402" "ITGB2" "0000419403" "ITGB2" "0000419404" "ITGB2" "0000419405" "ITGB2" "0000419406" "ITGB2" "0000419407" "ITGB2" "0000419408" "ITGB2" "0000419409" "ITGB2" "0000419410" "ITGB2" "0000419411" "ITGB2" "0000419412" "ITGB2" "0000419413" "ITGB2" "0000419414" "ITGB2" "0000419415" "ITGB2" "0000419416" "ITGB2" "0000419417" "ITGB2" "0000419418" "ITGB2" "0000419419" "ITGB2" "0000419420" "ITGB2" "0000419421" "ITGB2" "0000419422" "ITGB2" "0000419423" "ITGB2" "0000419424" "ITGB2" "0000419425" "ITGB2" "0000419426" "ITGB2" "0000419427" "ITGB2" "0000419428" "ITGB2" "0000419429" "ITGB2" "0000419430" "ITGB2" "0000419431" "ITGB2" "0000419432" "ITGB2" "0000419433" "ITGB2" "0000419434" "ITGB2" "0000419435" "ITGB2" "0000419436" "ITGB2" "0000419437" "ITGB2" "0000419438" "ITGB2" "0000419439" "ITGB2" "0000419440" "ITGB2" "0000419441" "ITGB2" "0000419442" "ITGB2" "0000419443" "ITGB2" "0000419444" "ITGB2" "0000419445" "ITGB2" "0000419446" "ITGB2" "0000419447" "ITGB2" "0000419448" "ITGB2" "0000419449" "ITGB2" "0000419450" "ITGB2" "0000419451" "ITGB2" "0000419452" "ITGB2" "0000419453" "ITGB2" "0000419454" "ITGB2" "0000419455" "ITGB2" "0000419456" "ITGB2" "0000419457" "ITGB2" "0000419458" "ITGB2" "0000419459" "ITGB2" "0000419460" "ITGB2" "0000419462" "ITGB2" "0000419463" "ITGB2" "0000419464" "ITGB2" "0000419465" "ITGB2" "0000419466" "ITGB2" "0000419467" "ITGB2" "0000419468" "ITGB2" "0000419469" "ITGB2" "0000419470" "ITGB2" "0000419471" "ITGB2" "0000419472" "ITGB2" "0000419473" "ITGB2" "0000419474" "ITGB2" "0000419475" "ITGB2" "0000419476" "ITGB2" "0000419477" "ITGB2" "0000419478" "ITGB2" "0000419479" "ITGB2" "0000419480" "ITGB2" "0000419481" "ITGB2" "0000419482" "ITGB2" "0000419483" "ITGB2" "0000419484" "ITGB2" "0000419485" "ITGB2" "0000419486" "ITGB2" "0000419487" "ITGB2" "0000419488" "ITGB2" "0000419489" "ITGB2" "0000419490" "ITGB2" "0000419491" "ITGB2" "0000419492" "ITGB2" "0000419493" "ITGB2" "0000419494" "ITGB2" "0000419495" "ITGB2" "0000419496" "ITGB2" "0000419497" "ITGB2" "0000419498" "ITGB2" "0000419499" "ITGB2" "0000419500" "ITGB2" "0000419501" "ITGB2" "0000419502" "ITGB2" "0000419503" "ITGB2" "0000419504" "ITGB2" "0000419505" "ITGB2" "0000419506" "ITGB2" "0000419507" "ITGB2" "0000419508" "ITGB2" "0000419509" "ITGB2" "0000419510" "ITGB2" "0000419511" "ITGB2" "0000419512" "ITGB2" "0000419513" "ITGB2" "0000419514" "ITGB2" "0000419515" "ITGB2" "0000419516" "ITGB2" "0000419517" "ITGB2" "0000419518" "ITGB2" "0000419519" "ITGB2" "0000419520" "ITGB2" "0000419521" "ITGB2" "0000419522" "ITGB2" "0000419523" "ITGB2" "0000419524" "ITGB2" "0000419525" "ITGB2" "0000419526" "ITGB2" "0000419527" "ITGB2" "0000419528" "ITGB2" "0000419529" "ITGB2" "0000419530" "ITGB2" "0000419531" "ITGB2" "0000419532" "ITGB2" "0000419533" "ITGB2" "0000419534" "ITGB2" "0000419535" "ITGB2" "0000419536" "ITGB2" "0000419537" "ITGB2" "0000419538" "ITGB2" "0000419539" "ITGB2" "0000419540" "ITGB2" "0000419541" "ITGB2" "0000419542" "ITGB2" "0000419543" "ITGB2" "0000419544" "ITGB2" "0000419545" "ITGB2" "0000419546" "ITGB2" "0000419547" "ITGB2" "0000419548" "ITGB2" "0000419549" "ITGB2" "0000419550" "ITGB2" "0000419551" "ITGB2" "0000419552" "ITGB2" "0000419553" "ITGB2" "0000419554" "ITGB2" "0000419555" "ITGB2" "0000419556" "ITGB2" "0000419557" "ITGB2" "0000419558" "ITGB2" "0000419559" "ITGB2" "0000419560" "ITGB2" "0000419561" "ITGB2" "0000419562" "ITGB2" "0000419563" "ITGB2" "0000419564" "ITGB2" "0000419565" "ITGB2" "0000419566" "ITGB2" "0000419567" "ITGB2" "0000419568" "ITGB2" "0000419569" "ITGB2" "0000419570" "ITGB2" "0000419571" "ITGB2" "0000419572" "ITGB2" "0000419573" "ITGB2" "0000419574" "ITGB2" "0000419575" "ITGB2" "0000419576" "ITGB2" "0000419577" "ITGB2" "0000419578" "ITGB2" "0000419579" "ITGB2" "0000419580" "ITGB2" "0000419581" "ITGB2" "0000419582" "ITGB2" "0000419583" "ITGB2" "0000419584" "ITGB2" "0000419585" "ITGB2" "0000419586" "ITGB2" "0000419587" "ITGB2" "0000419588" "ITGB2" "0000419589" "ITGB2" "0000419590" "ITGB2" "0000419591" "ITGB2" "0000419592" "ITGB2" "0000419593" "ITGB2" "0000419594" "ITGB2" "0000419595" "ITGB2" "0000419596" "ITGB2" "0000419597" "ITGB2" "0000419598" "ITGB2" "0000419599" "ITGB2" "0000419600" "ITGB2" "0000419601" "ITGB2" "0000419602" "ITGB2" "0000419603" "ITGB2" "0000419604" "ITGB2" ## 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 = 651 "{{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}}" "0000006027" "3" "50" "21" "46335401" "46335401" "subst" "0" "00037" "ITGB2_000017" "g.46335401C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.44915486C>T" "" "VUS" "" "0000248728" "0" "10" "21" "46311813" "46311813" "subst" "0.679584" "02325" "ITGB2_000005" "g.46311813A>G" "" "" "" "ITGB2(NM_000211.5):c.1323T>C (p.V441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44891898A>G" "" "benign" "" "0000281585" "0" "10" "21" "46314907" "46314907" "subst" "0.999935" "02325" "ITGB2_000007" "g.46314907T>A" "" "" "" "ITGB2(NM_000211.5):c.1062A>T (p.Q354H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44894992=" "" "benign" "" "0000281586" "0" "10" "21" "46313442" "46313442" "subst" "0.224489" "02325" "ITGB2_000006" "g.46313442G>T" "" "" "" "ITGB2(NM_000211.5):c.1101C>A (p.V367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44893527G>T" "" "benign" "" "0000281587" "0" "10" "21" "46328099" "46328099" "subst" "0" "02325" "ITGB2_000014" "g.46328099T>C" "" "" "" "ITGB2(NM_000211.5):c.148-1089A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44908184T>C" "" "benign" "" "0000281588" "0" "10" "21" "46320313" "46320313" "subst" "0.246766" "02325" "ITGB2_000010" "g.46320313C>T" "" "" "" "ITGB2(NM_000211.5):c.819G>A (p.G273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44900398C>T" "" "benign" "" "0000285394" "0" "30" "21" "46309429" "46309429" "subst" "0.0015174" "02326" "ITGB2_000003" "g.46309429C>T" "" "" "" "ITGB2(NM_001127491.3):c.1658-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44889514C>T" "" "likely benign" "" "0000285395" "0" "30" "21" "46323456" "46323456" "subst" "0.0020287" "02326" "ITGB2_000012" "g.46323456G>A" "" "" "" "ITGB2(NM_001127491.3):c.329-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44903541G>A" "" "likely benign" "" "0000285396" "0" "30" "21" "46321557" "46321557" "subst" "3.24897E-5" "02326" "ITGB2_000011" "g.46321557C>G" "" "" "" "ITGB2(NM_000211.3):c.591G>C (p.E197D), ITGB2(NM_001127491.3):c.591G>C (p.E197D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44901642C>G" "" "likely benign" "" "0000285397" "0" "30" "21" "46320304" "46320304" "subst" "0.000134043" "02326" "ITGB2_000009" "g.46320304G>A" "" "" "" "ITGB2(NM_001127491.3):c.828C>T (p.G276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44900389G>A" "" "likely benign" "" "0000289764" "0" "30" "21" "46310145" "46310145" "subst" "0.000580198" "01943" "ITGB2_000004" "g.46310145C>T" "" "" "" "ITGB2(NM_000211.3):c.1413-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44890230C>T" "" "likely benign" "" "0000289765" "0" "30" "21" "46326996" "46326996" "subst" "0.0016913" "01943" "ITGB2_000013" "g.46326996C>T" "" "" "" "ITGB2(NM_000211.3):c.162G>A (p.P54=), ITGB2(NM_001127491.3):c.162G>A (p.P54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44907081C>T" "" "likely benign" "" "0000289766" "0" "10" "21" "46308630" "46308630" "subst" "0.00194858" "01943" "ITGB2_000002" "g.46308630G>C" "" "" "" "ITGB2(NM_000211.3):c.2058C>G (p.L686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44888715G>C" "" "benign" "" "0000289767" "0" "50" "21" "46320303" "46320303" "subst" "3.24968E-5" "01943" "ITGB2_000008" "g.46320303C>T" "" "" "" "ITGB2(NM_000211.3):c.829G>A (p.A277T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44900388C>T" "" "VUS" "" "0000338141" "0" "90" "21" "46314976" "46314976" "subst" "0" "02327" "ITGB2_000015" "g.46314976C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44895061C>T" "" "pathogenic" "" "0000338142" "0" "10" "21" "46340843" "46340843" "subst" "0" "02327" "ITGB2_000016" "g.46340843A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44920928A>G" "" "benign" "" "0000340123" "0" "10" "21" "46311813" "46311813" "subst" "0.679584" "02327" "ITGB2_000005" "g.46311813A>G" "" "" "" "ITGB2(NM_000211.5):c.1323T>C (p.V441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44891898A>G" "" "benign" "" "0000344787" "0" "10" "21" "46314907" "46314907" "subst" "0.999935" "02327" "ITGB2_000007" "g.46314907T>A" "" "" "" "ITGB2(NM_000211.5):c.1062A>T (p.Q354H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44894992=" "" "benign" "" "0000405144" "0" "50" "21" "46311813" "46311813" "subst" "0" "02555" "ITGB2_000016" "g.46311813A>C" "110/610 cases" "{PMID:Lee 2014:25155097}" "" "" "{DB:Uveo2994?snp=rs235326&t=1535703522}" "Germline" "" "rs235326" "0" "" "" "g.44891898A>C" "" "VUS" "" "0000498908" "3" "90" "21" "46314925" "46314932" "delins" "0" "02967" "ITGB2_000001" "g.46314925_46314932delinsA" "" "{PMID:Bruno 2011:21850686}, {DOI:Bruno 2011:10.1002/humu.21581}" "" "" "" "Germline" "" "" "0" "" "" "g.44895010_44895017delinsA" "" "pathogenic (recessive)" "" "0000570833" "0" "30" "21" "46308800" "46308800" "subst" "0.00504074" "01943" "ITGB2_000018" "g.46308800C>T" "" "" "" "ITGB2(NM_000211.3):c.1888G>A (p.E630K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44888885C>T" "" "likely benign" "" "0000570834" "0" "30" "21" "46309915" "46309915" "subst" "0.0022341" "02326" "ITGB2_000019" "g.46309915G>A" "" "" "" "ITGB2(NM_000211.3):c.1635C>T (p.N545=), ITGB2(NM_001127491.3):c.1635C>T (p.N545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44890000G>A" "" "likely benign" "" "0000570835" "0" "10" "21" "46314967" "46314967" "subst" "0.00274421" "01943" "ITGB2_000020" "g.46314967G>A" "" "" "" "ITGB2(NM_000211.3):c.1002C>T (p.T334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44895052G>A" "" "benign" "" "0000570836" "0" "30" "21" "46321416" "46321416" "subst" "0.000350851" "01943" "ITGB2_000021" "g.46321416G>A" "" "" "" "ITGB2(NM_000211.3):c.732C>T (p.A244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44901501G>A" "" "likely benign" "" "0000570837" "0" "50" "21" "46321546" "46321546" "subst" "4.46748E-5" "01943" "ITGB2_000022" "g.46321546G>A" "" "" "" "ITGB2(NM_000211.3):c.602C>T (p.P201L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44901631G>A" "" "VUS" "" "0000570838" "0" "30" "21" "46321623" "46321623" "subst" "0.00282947" "01943" "ITGB2_000023" "g.46321623G>A" "" "" "" "ITGB2(NM_000211.3):c.525C>T (p.T175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44901708G>A" "" "likely benign" "" "0000570839" "0" "50" "21" "46323421" "46323421" "subst" "0.000178817" "01943" "ITGB2_000024" "g.46323421G>A" "" "" "" "ITGB2(NM_000211.3):c.358C>T (p.R120W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44903506G>A" "" "VUS" "" "0000570840" "0" "30" "21" "46326996" "46326996" "subst" "0.0016913" "02326" "ITGB2_000013" "g.46326996C>T" "" "" "" "ITGB2(NM_000211.3):c.162G>A (p.P54=), ITGB2(NM_001127491.3):c.162G>A (p.P54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44907081C>T" "" "likely benign" "" "0000570841" "0" "30" "21" "46330190" "46330190" "subst" "0.00200167" "02326" "ITGB2_000025" "g.46330190G>A" "" "" "" "ITGB2(NM_000211.3):c.147+9C>T, ITGB2(NM_001127491.3):c.147+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910275G>A" "" "likely benign" "" "0000570842" "0" "30" "21" "46330254" "46330254" "subst" "0.000134066" "01943" "ITGB2_000026" "g.46330254C>T" "" "" "" "ITGB2(NM_000211.3):c.92G>A (p.S31N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910339C>T" "" "likely benign" "" "0000570843" "0" "30" "21" "46330631" "46330631" "subst" "1.22395E-5" "01943" "ITGB2_000027" "g.46330631A>G" "" "" "" "ITGB2(NM_000211.3):c.58+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910716A>G" "" "likely benign" "" "0000570844" "0" "30" "21" "46330665" "46330665" "subst" "4.07687E-6" "01943" "ITGB2_000028" "g.46330665C>G" "" "" "" "ITGB2(NM_000211.3):c.33G>C (p.L11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910750C>G" "" "likely benign" "" "0000618397" "0" "30" "21" "46306726" "46306726" "subst" "8.12282E-6" "01943" "ITGB2_000029" "g.46306726C>T" "" "" "" "ITGB2(NM_000211.3):c.2172G>A (p.K724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44886811C>T" "" "likely benign" "" "0000618398" "0" "30" "21" "46309915" "46309915" "subst" "0.0022341" "01943" "ITGB2_000019" "g.46309915G>A" "" "" "" "ITGB2(NM_000211.3):c.1635C>T (p.N545=), ITGB2(NM_001127491.3):c.1635C>T (p.N545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44890000G>A" "" "likely benign" "" "0000618399" "0" "30" "21" "46311792" "46311792" "subst" "8.15621E-6" "01943" "ITGB2_000032" "g.46311792C>T" "" "" "" "ITGB2(NM_000211.3):c.1344G>A (p.R448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44891877C>T" "" "likely benign" "" "0000618400" "0" "50" "21" "46320375" "46320375" "subst" "4.11933E-6" "01943" "ITGB2_000033" "g.46320375G>T" "" "" "" "ITGB2(NM_000211.3):c.757C>A (p.R253S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44900460G>T" "" "VUS" "" "0000618401" "0" "30" "21" "46321602" "46321602" "subst" "1.22108E-5" "01943" "ITGB2_000034" "g.46321602C>T" "" "" "" "ITGB2(NM_000211.3):c.546G>A (p.T182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44901687C>T" "" "likely benign" "" "0000618402" "0" "30" "21" "46330194" "46330194" "subst" "8.16907E-6" "01943" "ITGB2_000035" "g.46330194C>T" "" "" "" "ITGB2(NM_000211.3):c.147+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910279C>T" "" "likely benign" "" "0000624230" "0" "50" "21" "46308638" "46308638" "subst" "0.000402302" "01943" "ITGB2_000030" "g.46308638G>A" "" "" "" "ITGB2(NM_000211.3):c.2050C>T (p.R684C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44888723G>A" "" "VUS" "" "0000624231" "0" "30" "21" "46311778" "46311778" "subst" "0.000527254" "02326" "ITGB2_000031" "g.46311778C>T" "" "" "" "ITGB2(NM_001127491.3):c.1358G>A (p.S453N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44891863C>T" "" "likely benign" "" "0000650881" "1" "30" "21" "46309312" "46309312" "subst" "0.00881088" "03575" "ITGB2_000036" "g.46309312G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs5030672}" "Germline" "" "rs5030672" "0" "" "" "g.44889397G>A" "" "likely benign" "" "0000658849" "0" "30" "21" "46306313" "46306313" "subst" "3.65494E-5" "01943" "ITGB2_000037" "g.46306313C>T" "" "" "" "ITGB2(NM_000211.3):c.2280G>A (p.T760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44886398C>T" "" "likely benign" "" "0000658850" "0" "30" "21" "46308719" "46308719" "subst" "6.53937E-5" "01943" "ITGB2_000038" "g.46308719C>T" "" "" "" "ITGB2(NM_000211.3):c.1969G>A (p.V657M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44888804C>T" "" "likely benign" "" "0000658851" "0" "30" "21" "46326930" "46326930" "subst" "0.000146204" "02326" "ITGB2_000039" "g.46326930G>A" "" "" "" "ITGB2(NM_001127491.3):c.228C>T (p.D76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44907015G>A" "" "likely benign" "" "0000673560" "11" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "03695" "ITGB2_000040" "g.46320315C>T" "" "no variant 2nd allele reported" "" "" "" "De novo" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000681740" "0" "10" "21" "46309312" "46309312" "subst" "0.00881088" "02325" "ITGB2_000036" "g.46309312G>A" "" "" "" "ITGB2(NM_000211.3):c.1756C>T (p.R586W), ITGB2(NM_000211.5):c.1756C>T (p.R586W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000681741" "0" "50" "21" "46309950" "46309950" "subst" "0" "01804" "ITGB2_000041" "g.46309950A>G" "" "" "" "ITGB2(NM_000211.3):c.1600T>C (p.(Cys534Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693068" "0" "50" "21" "46326976" "46326976" "subst" "8.16207E-6" "01943" "ITGB2_000042" "g.46326976C>T" "" "" "" "ITGB2(NM_000211.3):c.182G>A (p.R61H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727944" "0" "10" "21" "46330628" "46330628" "subst" "0.127018" "02327" "ITGB2_000043" "g.46330628C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000734664" "0" "70" "21" "46323286" "46323286" "subst" "1.21895E-5" "04011" "ITGB2_000044" "g.46323286G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735437" "0" "70" "21" "46309312" "46309312" "subst" "0.00881088" "04011" "ITGB2_000036" "g.46309312G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000809419" "0" "30" "21" "46309270" "46309270" "subst" "2.45572E-5" "01943" "ITGB2_000045" "g.46309270C>T" "" "" "" "ITGB2(NM_000211.3):c.1798G>A (p.V600I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855984" "0" "30" "21" "46309312" "46309312" "subst" "0.00881088" "02326" "ITGB2_000036" "g.46309312G>A" "" "" "" "ITGB2(NM_000211.3):c.1756C>T (p.R586W), ITGB2(NM_000211.5):c.1756C>T (p.R586W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855985" "0" "50" "21" "46321557" "46321557" "subst" "3.24897E-5" "01943" "ITGB2_000011" "g.46321557C>G" "" "" "" "ITGB2(NM_000211.3):c.591G>C (p.E197D), ITGB2(NM_001127491.3):c.591G>C (p.E197D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855986" "0" "30" "21" "46323263" "46323263" "subst" "1.22018E-5" "02326" "ITGB2_000047" "g.46323263C>T" "" "" "" "ITGB2(NM_000211.3):c.499+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866653" "0" "90" "21" "46313397" "46313397" "subst" "0" "01943" "ITGB2_000046" "g.46313397G>T" "" "" "" "ITGB2(NM_000211.3):c.1146C>A (p.Y382*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866654" "0" "30" "21" "46330190" "46330190" "subst" "0.00200167" "01943" "ITGB2_000025" "g.46330190G>A" "" "" "" "ITGB2(NM_000211.3):c.147+9C>T, ITGB2(NM_001127491.3):c.147+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000879097" "0" "70" "21" "46306138" "46306138" "=" "0" "00006" "ITGB2_000048" "g.46306138=" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "" "allele frequency significnatly increased in biliary atresia cases" "Germline" "" "" "0" "" "" "g.44886223=" "" "association" "" "0000879098" "0" "70" "21" "46306138" "46306138" "subst" "0" "00006" "ITGB2_000049" "g.46306138G>T" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "" "allele frequency decreased in biliary atresia cases" "Germline" "" "" "0" "" "" "g.44886223G>T" "" "association" "" "0000879099" "0" "30" "21" "46340843" "46340843" "subst" "0" "00006" "ITGB2_000016" "g.46340843A>G" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "" "" "Germline" "" "" "0" "" "" "g.44920928A>G" "" "likely benign" "" "0000879100" "0" "30" "21" "46330229" "46330229" "subst" "0.0191714" "00006" "ITGB2_000050" "g.46330229C>T" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "" "" "Germline" "" "" "0" "" "" "g.44910314C>T" "" "likely benign" "" "0000879101" "0" "30" "21" "46313442" "46313442" "subst" "0.224489" "00006" "ITGB2_000006" "g.46313442G>T" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "" "" "Germline" "" "" "0" "" "" "g.44893527G>T" "" "likely benign" "" "0000879102" "0" "30" "21" "46320313" "46320313" "subst" "0.246766" "00006" "ITGB2_000010" "g.46320313C>T" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "" "" "Germline" "" "" "0" "" "" "g.44900398C>T" "" "likely benign" "" "0000879103" "0" "30" "21" "46341645" "46341645" "subst" "0" "00006" "ITGB2_000051" "g.46341645G>A" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "-680C/T (c.-913C>T)" "" "Germline" "" "" "0" "" "" "g.44921730G>A" "" "likely benign" "" "0000879104" "0" "90" "21" "46306138" "46306138" "subst" "0" "00006" "ITGB2_000049" "g.46306138G>T" "" "{PMID:Zhao 2013: 23921155}, {DOI:Zhao 2013:10.1159/000352025}" "" "" "in vitro expression cloning showed significantly reduced luciferase activity" "In vitro (cloned)" "" "" "0" "" "" "g.44886223G>T" "" "NA" "" "0000879105" "0" "10" "21" "46320313" "46320313" "subst" "0.246766" "04389" "ITGB2_000010" "g.46320313C>T" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44900398C>T" "" "benign" "" "0000879106" "0" "10" "21" "46313442" "46313442" "subst" "0.224489" "04389" "ITGB2_000006" "g.46313442G>T" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44893527G>T" "" "benign" "" "0000879107" "0" "10" "21" "46340843" "46340843" "subst" "0" "04389" "ITGB2_000016" "g.46340843A>G" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44920928A>G" "" "benign" "" "0000879108" "0" "10" "21" "46341135" "46341135" "subst" "0" "04389" "ITGB2_000242" "g.46341135G>A" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44921220G>A" "" "benign" "" "0000879109" "0" "10" "21" "46330674" "46330674" "subst" "0.211294" "04389" "ITGB2_000087" "g.46330674C>A" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44910759C>A" "" "benign" "" "0000879110" "0" "10" "21" "46326996" "46326996" "subst" "0.0016913" "04389" "ITGB2_000013" "g.46326996C>T" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44907081C>T" "" "benign" "" "0000879111" "0" "10" "21" "46326929" "46326929" "subst" "0.000726945" "04389" "ITGB2_000214" "g.46326929C>T" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44907014C>T" "" "benign" "" "0000879112" "0" "10" "21" "46326815" "46326815" "subst" "0.156802" "04389" "ITGB2_000208" "g.46326815C>T" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44906900C>T" "" "benign" "" "0000879113" "0" "10" "21" "46323273" "46323273" "subst" "0.0209577" "04389" "ITGB2_000190" "g.46323273G>A" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44903358G>A" "" "benign" "" "0000879114" "0" "10" "21" "46321677" "46321677" "subst" "0.17176" "04389" "ITGB2_000189" "g.46321677G>A" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44901762G>A" "" "benign" "" "0000879115" "0" "10" "21" "46321659" "46321659" "subst" "0.158892" "04389" "ITGB2_000187" "g.46321659C>A" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44901744C>A" "" "benign" "" "0000879116" "0" "10" "21" "46320403" "46320403" "subst" "0.124979" "04389" "ITGB2_000166" "g.46320403C>T" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44900488C>T" "" "benign" "" "0000879117" "0" "10" "21" "46315022" "46315022" "subst" "0.228396" "04389" "ITGB2_000133" "g.46315022C>T" "" "{PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44895107C>T" "" "benign" "" "0000879118" "0" "10" "21" "46311813" "46311813" 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"0" "" "" "g.44903541G>A" "" "benign" "" "0000879126" "0" "10" "21" "46321561" "46321561" "subst" "0" "04389" "ITGB2_000179" "g.46321561T>G" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44901646T>G" "" "benign" "" "0000879127" "0" "10" "21" "46321416" "46321416" "subst" "0.000350851" "04389" "ITGB2_000021" "g.46321416G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44901501G>A" "" "benign" "" "0000879128" "0" "10" "21" "46320325" "46320325" "subst" "0.000532157" "04389" "ITGB2_000157" "g.46320325G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44900410G>A" "" "benign" "" "0000879129" "0" "10" "21" "46320322" "46320322" "subst" "0.00132016" "04389" "ITGB2_000155" "g.46320322C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44900407C>T" "" "benign" "" "0000879130" "0" "10" "21" "46319069" "46319069" "subst" "0.0186168" "04389" "ITGB2_000141" "g.46319069T>C" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44899154T>C" "" "benign" "" "0000879131" "0" "10" "21" "46314967" "46314967" "subst" "0.00274421" "04389" "ITGB2_000020" "g.46314967G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44895052G>A" "" "benign" "" "0000879132" "0" "10" "21" "46314943" "46314943" "subst" "0.000909874" "04389" "ITGB2_000130" "g.46314943C>G" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44895028C>G" "" "benign" "" "0000879133" "0" "10" "21" "46313371" "46313371" "subst" "0.000759379" "04389" "ITGB2_000117" "g.46313371G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44893456G>A" "" "benign" "" "0000879134" "0" "10" "21" "46310053" "46310053" "subst" "0.000443075" "04389" "ITGB2_000104" "g.46310053C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44890138C>T" "" "benign" "" "0000879135" "0" "10" "21" "46310008" "46310008" "subst" "0.00201592" "04389" "ITGB2_000101" "g.46310008G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44890093G>A" "" "benign" "" "0000879136" "0" "10" "21" "46309915" "46309915" "subst" "0.0022341" "04389" "ITGB2_000019" "g.46309915G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44890000G>A" "" "benign" "" "0000879137" "0" "10" "21" "46308800" "46308800" "subst" "0.00504074" "04389" "ITGB2_000018" "g.46308800C>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44888885C>T" "" "benign" "" "0000879138" "0" "10" "21" "46308795" "46308795" "subst" "0.0047415" "04389" "ITGB2_000069" "g.46308795G>A" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44888880G>A" "" "benign" "" "0000879139" "0" "10" "21" "46308630" "46308630" "subst" "0.00194858" "04389" "ITGB2_000002" "g.46308630G>C" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44888715G>C" "" "benign" "" "0000879140" "0" "10" "21" "46306138" "46306138" "subst" "0" "04389" "ITGB2_000049" "g.46306138G>T" "" "{PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.44886223G>T" "" "benign" "" "0000879144" "21" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "00006" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Cox 2008:17618138}, {DOI:Cox 2008:10.1016/j.tripleo.2007.02.026}" "" "G284S" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic (recessive)" "" "0000879145" "11" "90" "21" "46321457" "46321457" "subst" "0" "00006" "ITGB2_000053" "g.46321457C>G" "" "{PMID:Cox 2008:17618138}, {DOI:Cox 2008:10.1016/j.tripleo.2007.02.026}" "" "D231H" "" "Germline" "" "" "0" "" "" "g.44901542C>G" "" "pathogenic (recessive)" "" "0000879148" "3" "90" "21" "46313401" "46313401" "del" "0" "04389" "ITGB2_000118" "g.46313401del" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1143delC" "" "Germline" "" "" "0" "" "" "g.44893486del" "" "pathogenic" "" "0000879149" "3" "90" "21" "46323456" "46323456" "subst" "0" "04389" "ITGB2_000207" "g.46323456G>T" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903541G>T" "" "pathogenic" "" "0000879150" "3" "90" "21" "46306751" "46306751" "subst" "0" "04389" "ITGB2_000059" "g.46306751C>G" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44886836C>G" "" "pathogenic" "" "0000879151" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879152" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879153" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879154" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879155" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879156" "3" "90" "21" "46320293" "46320293" "del" "0" "04389" "ITGB2_000153" "g.46320293del" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Teimourian 2019: 29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "c.843delC" "" "Germline" "" "" "0" "" "" "g.44900378del" "" "pathogenic" "" "0000879157" "3" "90" "21" "46308784" "46308784" "del" "0" "04389" "ITGB2_000068" "g.46308784del" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1907delA" "" "Germline" "" "" "0" "" "" "g.44888869del" "" "pathogenic" "" "0000879158" "3" "90" "21" "46308784" "46308784" "del" "0" "04389" "ITGB2_000068" "g.46308784del" "" "{PMID:Parvaneh 2010:20549317}, {DOI:Parvaneh 2010:10.1007/s10875-010-9433-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1907delA" "" "Germline" "" "" "0" "" "" "g.44888869del" "" "pathogenic" "" "0000879159" "1" "90" "21" "46305868" "46340965" "del" "0" "04389" "ITGB2_000056" "g.(?_46305868)_(46340965_?)del" "" "{PMID:Rivera-Matos 1995:7472832}, {DOI:Rivera-Matos 1995:10.1016/s0022-3476(95)70169-9}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "del entire gene" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.(?_44885953)_(44921050_?)del" "" "pathogenic" "" "0000879160" "3" "90" "21" "46330591" "46331422" "del" "0" "04389" "ITGB2_000233" "g.46330591_46331422del" "" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "del ex2" "" "Germline" "" "" "0" "" "" "g.44910676_44911507del" "" "pathogenic" "" "0000879161" "3" "90" "21" "46330591" "46331422" "del" "0" "04389" "ITGB2_000233" "g.46330591_46331422del" "" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "del ex2" "" "Germline" "" "" "0" "" "" "g.44910676_44911507del" "" "pathogenic" "" "0000879162" "3" "90" "21" "46321660" "46321660" "subst" "8.27568E-6" "04389" "ITGB2_000188" "g.46321660A>C" "" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "variant not found in father, possible maternal disomy" "Germline" "" "" "0" "" "" "g.44901745A>C" "" "pathogenic" "" "0000879163" "3" "90" "21" "46326959" "46326959" "subst" "4.06501E-6" "04389" "ITGB2_000216" "g.46326959G>A" "" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "C199T" "" "Germline" "" "" "0" "" "" "g.44907044G>A" "" "pathogenic" "" "0000879164" "3" "90" "21" "46326959" "46326959" "subst" "4.06501E-6" "04389" "ITGB2_000216" "g.46326959G>A" "" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "C199T" "" "Germline" "" "" "0" "" "" "g.44907044G>A" "" "pathogenic" "" "0000879165" "3" "90" "21" "46320378" "46320378" "subst" "0" "04389" "ITGB2_000163" "g.46320378A>G" "" "{PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "T754C" "" "Germline" "" "" "0" "" "" "g.44900463A>G" "" "pathogenic" "" "0000879166" "3" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879167" "3" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879168" "3" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879169" "1" "90" "21" "46320404" "46320404" "subst" "1.22246E-5" "04389" "ITGB2_000167" "g.46320404G>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44900489G>T" "" "pathogenic" "" "0000879170" "1" "90" "21" "46320404" "46320404" "subst" "1.22246E-5" "04389" "ITGB2_000167" "g.46320404G>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44900489G>T" "" "pathogenic" "" "0000879171" "21" "90" "21" "46320404" "46320404" "subst" "1.22246E-5" "04389" "ITGB2_000167" "g.46320404G>T" "" "{PMID:Nelson 1992:1346613}, {PMID:Uzel 2008:28328327}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900489G>T" "" "pathogenic" "" "0000879172" "1" "90" "21" "46314948" "46314948" "subst" "0" "04389" "ITGB2_000131" "g.46314948C>G" "" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "" "Germline" "" "" "0" "" "" "g.44895033C>G" "" "pathogenic" "" "0000879173" "1" "90" "21" "46323333" "46323333" "subst" "0" "04389" "ITGB2_000196" "g.46323333A>G" "" "{PMID:Wardlaw 1990:1694220}, {DOI:Wardlaw 1990:10.1084/jem.172.1.335}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Wright 1995: 7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "" "Germline" "" "" "0" "" "" "g.44903418A>G" "" "pathogenic" "" "0000879174" "1" "90" "21" "46330696" "46330696" "subst" "0" "04389" "ITGB2_000239" "g.46330696A>T" "" "{PMID:Sligh 1992:1346132}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "Met1Lys" "" "Germline" "" "" "0" "" "" "g.44910781A>T" "" "pathogenic" "" "0000879175" "1" "90" "21" "46308618" "46308618" "del" "0" "04389" "ITGB2_000065" "g.46308618del" "" "{PMID:Sligh 1992:1346132}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.2070delT" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44888703del" "" "pathogenic" "" "0000879176" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "{PMID:Lopez 1993:7901025}, {DOI:Lopez 1993:10.1002/eji.1830231111}" "" "c.119_128del10" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879177" "3" "90" "21" "46309948" "46309948" "subst" "1.62562E-5" "04389" "ITGB2_000099" "g.46309948G>T" "" "{PMID:Lopez 1993:7901025}, {DOI:Lopez 1993:10.1002/eji.1830231111}, {PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44890033G>T" "" "pathogenic" "" "0000879178" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "{PMID:Fiorini 2002:12377933}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879179" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Tsai 2008:17651379}, {DOI:Tsai 2008:10.1111/j.1399-3038.2007.00590.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879180" "3" "90" "21" "46323318" "46323487" "del" "0" "04389" "ITGB2_000194" "g.46323318_46323487del" "" "{PMID:Allende 2000:10712675}, {DOI:Allende 2000:10.1046/j.1365-2567.2000.00960.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.329-37_461del169" "" "Germline" "" "" "0" "" "" "g.44903403_44903572del" "" "pathogenic" "" "0000879181" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Matsuura 1992:1590804}, {DOI:Matsuura 1992:10.1016/s0006-291x(05)80047-6}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879182" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Matsuura 1992:1590804}, {DOI:Matsuura 1992:10.1016/s0006-291x(05)80047-6}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879183" "3" "90" "21" "46323397" "46323397" "subst" "8.12328E-6" "04389" "ITGB2_000205" "g.46323397C>T" "" "{PMID:Matsuura 1992:1590804}, {DOI:Matsuura 1992:10.1016/s0006-291x(05)80047-6}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>T" "" "pathogenic" "" "0000879184" "1" "90" "21" "46323367" "46323367" "subst" "0" "04389" "ITGB2_000197" "g.46323367A>G" "" "{PMID:Hogg 1999:9884339}, {DOI:Hogg 1999:10.1172/JCI3312}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903452A>G" "" "pathogenic" "" "0000879185" "1" "90" "21" "46321643" "46321643" "subst" "0" "04389" "ITGB2_000186" "g.46321643C>T" "" "{PMID:Wardlaw 1990:1694220}, {DOI:Wardlaw 1990:10.1084/jem.172.1.335}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44901728C>T" "" "pathogenic" "" "0000879186" "1" "90" "21" "46321643" "46321643" "subst" "0" "04389" "ITGB2_000186" "g.46321643C>T" "" "{PMID:Corbi 1992:1352501}, {DOI:Corbi 1992:10.1002/eji.1830220730}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "possible splice defect variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44901728C>T" "" "pathogenic" "" "0000879187" "21" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Back 1992:1347532}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "606C>T" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879188" "1" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Ohashi 1993:7509236}, {DOI:Ohashi 1993:10.1002/humu.1380020606}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879189" "3" "10" "21" "46321561" "46321561" "subst" "0" "04389" "ITGB2_000179" "g.46321561T>G" "" "{PMID:Arnaout 1990:1968911}, {DOI:Arnaout 1990:10.1172/JCI114529}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "r.587a>c" "" "Germline" "" "" "0" "" "" "g.44901646T>G" "" "benign" "" "0000879190" "1" "90" "21" "46321533" "46321534" "ins" "0" "04389" "ITGB2_000177" "g.46321533_46321534insT" "" "{PMID:Pollard 2001:11332677}, {DOI:Pollard 2001:10.1097/00006454-200104000-00019}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44901618_44901619insT" "" "pathogenic" "" "0000879191" "1" "90" "21" "46321457" "46321457" "subst" "0" "04389" "ITGB2_000053" "g.46321457C>G" "" "{PMID:Mathew 2000:10886250}, {DOI:Mathew 20000:10.1046/j.1365-2249.2000.01277.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901542C>G" "" "pathogenic" "" "0000879192" "1" "90" "21" "46320323" "46320323" "subst" "2.03103E-5" "04389" "ITGB2_000156" "g.46320323G>A" "" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "" "Germline" "" "" "0" "" "" "g.44900408G>A" "" "pathogenic" "" "0000879193" "1" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Back 1993:7686755}, {DOI:Back 1993:10.1006/bbrc.1993.1712}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879194" "3" "90" "21" "46314883" "46314883" "subst" "4.06177E-6" "04389" "ITGB2_000122" "g.46314883C>G" "" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44894968C>G" "" "pathogenic" "" "0000879195" "3" "90" "21" "46314883" "46314883" "subst" "4.06177E-6" "04389" "ITGB2_000122" "g.46314883C>G" "" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44894968C>G" "" "pathogenic" "" "0000879196" "3" "90" "21" "46314883" "46314883" "subst" "4.06177E-6" "04389" "ITGB2_000122" "g.46314883C>G" "" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44894968C>G" "" "pathogenic" "" "0000879197" "3" "90" "21" "46314883" "46314883" "subst" "4.06177E-6" "04389" "ITGB2_000122" "g.46314883C>G" "" "{PMID:Kishimoto 1989:2464599}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44894968C>G" "" "pathogenic" "" "0000879198" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879199" "3" "90" "21" "46311881" "46311882" "del" "0" "04389" "ITGB2_000115" "g.46311881_46311882del" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1256_1257delAG *" "" "Germline" "" "" "0" "" "" "g.44891966_44891967del" "" "pathogenic" "" "0000879200" "1" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879201" "3" "90" "21" "46323387" "46323387" "subst" "8.12189E-6" "04389" "ITGB2_000201" "g.46323387T>G" "" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903472T>G" "" "pathogenic" "" "0000879202" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879203" "1" "90" "21" "0" "0" "" "0" "04389" "CSTB_000023" "g.?" "" "{PMID:Hixson 2004:14512306}, {DOI:Hixson 2004:10.1182/blood-2003-08-2780}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "1622del36" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000879204" "1" "90" "21" "46310053" "46310053" "del" "0" "04389" "ITGB2_000105" "g.46310053del" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1498delG" "" "Germline" "" "" "0" "" "" "g.44890138del" "" "pathogenic" "" "0000879205" "3" "90" "21" "46310053" "46310053" "del" "0" "04389" "ITGB2_000105" "g.46310053del" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1498delG" "" "Germline" "" "" "0" "" "" "g.44890138del" "" "pathogenic" "" "0000879206" "1" "90" "21" "46310053" "46310053" "del" "0" "04389" "ITGB2_000105" "g.46310053del" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1498delG" "" "Germline" "" "" "0" "" "" "g.44890138del" "" "pathogenic" "" "0000879207" "1" "90" "21" "46310053" "46310053" "del" "0" "04389" "ITGB2_000105" "g.46310053del" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1498delG" "" "Germline" "" "" "0" "" "" "g.44890138del" "" "pathogenic" "" "0000879208" "3" "90" "21" "46309190" "46310138" "del" "0" "04389" "ITGB2_000075" "g.(46308811_46309190)_(46310138_46311723)del" "" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1412_?del2114" "" "Germline" "" "" "0" "" "" "g.(44888896_44889275)_(44890223_44891808)del" "" "pathogenic" "" "0000879209" "1" "90" "21" "46310053" "46310053" "del" "0" "04389" "ITGB2_000105" "g.46310053del" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1498delG" "" "Germline" "" "" "0" "" "" "g.44890138del" "" "pathogenic" "" "0000879210" "3" "90" "21" "46309190" "46310138" "del" "0" "04389" "ITGB2_000075" "g.(46308811_46309190)_(46310138_46311723)del" "" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1412_?del2114" "" "Germline" "" "" "0" "" "" "g.(44888896_44889275)_(44890223_44891808)del" "" "pathogenic" "" "0000879211" "1" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879212" "1" "90" "21" "46326829" "46326829" "subst" "0" "04389" "ITGB2_000209" "g.46326829C>T" "" "{PMID:Tone 2007:17244687}, {DOI:Tone 2007:10.1182/blood-2007-08-039057}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44906914C>T" "" "pathogenic" "" "0000879213" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879214" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879215" "3" "90" "21" "46309928" "46309928" "delins" "0" "04389" "ITGB2_000097" "g.46309928delinsGGTCTGCGCTACAACTGCGCTGT" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1622delGinsACAGCGCAGTTGTAGCGCAGACC" "" "Germline" "" "" "0" "" "" "g.44890013delinsGGTCTGCGCTACAACTGCGCTGT" "" "pathogenic" "" "0000879216" "3" "90" "21" "46309960" "46309960" "subst" "0" "04389" "ITGB2_000100" "g.46309960G>C" "" "Law unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44890045G>C" "" "pathogenic" "" "0000879217" "1" "90" "21" "46321457" "46321457" "subst" "0" "04389" "ITGB2_000053" "g.46321457C>G" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901542C>G" "" "pathogenic" "" "0000879218" "1" "90" "21" "46323379" "46323379" "subst" "8.1215E-6" "04389" "ITGB2_000198" "g.46323379C>T" "" "CLB unpunl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Lorusso 2006: 16595236}, {DOI:Lorusso 2006:10.1016/j.fertnstert.2005.03.092}" "" "" "" "Germline" "" "" "0" "" "" "g.44903464C>T" "" "pathogenic" "" "0000879219" "3" "90" "21" "46308611" "46308611" "subst" "0" "04389" "ITGB2_000064" "g.46308611G>A" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44888696G>A" "" "pathogenic" "" "0000879220" "1" "90" "21" "46330216" "46330216" "subst" "8.13941E-6" "04389" "ITGB2_000222" "g.46330216T>G" "" "{PMID:Vahlquist 2015:24995649}, {DOI:Vahlquist 2015:10.2340/00015555-1929}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44910301T>G" "" "pathogenic" "" "0000879221" "3" "90" "21" "46323333" "46323333" "subst" "0" "04389" "ITGB2_000196" "g.46323333A>G" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903418A>G" "" "pathogenic" "" "0000879222" "1" "90" "21" "46330269" "46330269" "dup" "0" "04389" "ITGB2_000229" "g.46330269dup" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.77dupC" "" "Germline" "" "" "0" "" "" "g.44910354dup" "" "pathogenic" "" "0000879223" "3" "90" "21" "46309948" "46309948" "subst" "1.62562E-5" "04389" "ITGB2_000099" "g.46309948G>T" "" "Parvaneh unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44890033G>T" "" "pathogenic" "" "0000879224" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "Malawista 2003, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879225" "3" "90" "21" "46314910" "46314912" "delins" "0" "04389" "ITGB2_000125" "g.46314910_46314912delinsN[35]" "" "{PMID:Van De Vijver:22134107}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2011.10.004}" "" "c.1057_1059delins35 (Val353_Ser769delinsSerSerHis)" "" "Germline" "" "" "0" "" "" "g.44894995_44894997delinsN[35]" "" "pathogenic" "" "0000879226" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Madkaikar 2015:22134107}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879227" "3" "90" "21" "46314910" "46314912" "delins" "0" "04389" "ITGB2_000125" "g.46314910_46314912delinsN[35]" "" "Mathews unpubl, {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}, Madkaikar unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.1057_1059delins35 (Val353_Ser769delinsSerSerHis)" "" "Germline" "" "" "0" "" "" "g.44894995_44894997delinsN[35]" "" "pathogenic" "" "0000879228" "1" "90" "21" "46314910" "46314912" "delins" "0" "04389" "ITGB2_000125" "g.46314910_46314912delinsN[35]" "" "Madkaikar unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.1057_1059delins35 (Val353_Ser769delinsSerSerHis)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44894995_44894997delinsN[35]" "" "pathogenic" "" "0000879229" "3" "90" "21" "0" "0" "" "0" "04389" "CSTB_000023" "g.?" "" "{PMID:Fiorini 2002:12377933}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000879230" "3" "90" "21" "46309234" "46309234" "subst" "0" "04389" "ITGB2_000079" "g.46309234A>G" "" "{PMID:Fiorini 2002:12377933}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Eyerich 2009:19171538}, {DOI:Eyerich 2009:10.1684/ejd.2008.0552}" "" "" "" "Germline" "" "" "0" "" "" "g.44889319A>G" "" "pathogenic" "" "0000879231" "1" "90" "21" "46330267" "46330267" "subst" "4.06256E-6" "04389" "ITGB2_000228" "g.46330267T>A" "" "Castriconi 2007, Fiorini 2002, {PMID:Fiorini 2009:19864007}, De Rose 2018, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44910352T>A" "" "pathogenic" "" "0000879232" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "Castriconi 2007, De Rose 2018, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879233" "3" "90" "21" "46319076" "46319076" "subst" "0" "04389" "ITGB2_000143" "g.46319076T>A" "" "{PMID:Li 2010:20529581}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44899161T>A" "" "pathogenic" "" "0000879234" "3" "90" "21" "46310053" "46310053" "del" "0" "04389" "ITGB2_000105" "g.46310053del" "" "Halioui 2006 , {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1498delG" "" "Germline" "" "" "0" "" "" "g.44890138del" "" "pathogenic" "" "0000879235" "3" "90" "21" "46311746" "46311748" "delins" "0" "04389" "ITGB2_000110" "g.46311746_46311748delinsTG" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1388_1390delGCTinsCA" "" "Germline" "" "" "0" "" "" "g.44891831_44891833delinsTG" "" "pathogenic" "" "0000879236" "1" "90" "21" "46330216" "46330216" "subst" "8.13941E-6" "04389" "ITGB2_000222" "g.46330216T>G" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44910301T>G" "" "pathogenic" "" "0000879237" "1" "90" "21" "46326972" "46326972" "subst" "0" "04389" "ITGB2_000217" "g.46326972G>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44907057G>T" "" "pathogenic" "" "0000879238" "1" "90" "21" "46320323" "46320323" "subst" "2.03103E-5" "04389" "ITGB2_000156" "g.46320323G>A" "" "GeneDx unpubl., {PMID:Guan 2015:25514840}, {DOI:Guan 2015:10.1016/j.bcmd.2014.11.005}" "" "" "" "Germline" "" "" "0" "" "" "g.44900408G>A" "" "pathogenic" "" "0000879239" "3" "90" "21" "46326974" "46326974" "subst" "0" "04389" "ITGB2_000218" "g.46326974A>G" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44907059A>G" "" "pathogenic" "" "0000879240" "3" "90" "21" "46326844" "46326844" "subst" "8.52882E-5" "04389" "ITGB2_000211" "g.46326844A>G" "" "{PMID:Hinze 2010:20807363}, {DOI:Hinze 2010:10.1111/j.1525-1470.2010.01260.x }, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44906929A>G" "" "pathogenic" "" "0000879241" "1" "90" "21" "46321436" "46321436" "subst" "0" "04389" "ITGB2_000171" "g.46321436C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901521C>T" "" "pathogenic" "" "0000879242" "1" "90" "21" "46330267" "46330267" "subst" "4.06256E-6" "04389" "ITGB2_000228" "g.46330267T>A" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44910352T>A" "" "pathogenic" "" "0000879243" "1" "90" "21" "46310129" "46310129" "del" "4.07515E-6" "04389" "ITGB2_000107" "g.46310129del" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1421delC" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44890214del" "" "pathogenic" "" "0000879244" "1" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879245" "1" "90" "21" "46323397" "46323397" "subst" "8.12328E-6" "04389" "ITGB2_000205" "g.46323397C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>T" "" "pathogenic" "" "0000879246" "1" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879247" "3" "90" "21" "46314883" "46314883" "subst" "4.06177E-6" "04389" "ITGB2_000122" "g.46314883C>G" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44894968C>G" "" "pathogenic" "" "0000879248" "1" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879249" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "Beloh/Schwarz unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879250" "3" "90" "21" "46330240" "46330240" "subst" "0" "04389" "ITGB2_000226" "g.46330240A>T" "" "NIH/Unal unp, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44910325A>T" "" "pathogenic" "" "0000879251" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879252" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879253" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879254" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879255" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879256" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Simon 2010:21103413}, {DOI:Simon 2010:10.1371/journal.pone.0013659}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879257" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "Somech unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.119_128del10" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879258" "1" "90" "21" "46323330" "46323330" "subst" "0" "04389" "ITGB2_000195" "g.46323330C>T" "" "{PMID:Uzel 2010, Abs P256:20136937}, {DOI:Uzel 2010, Abs P256:10.1111/j.1365-2362.2009.02244.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44903415C>T" "" "pathogenic" "" "0000879259" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879260" "3" "90" "21" "46320286" "46320286" "subst" "0" "04389" "ITGB2_000151" "g.46320286G>T" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44900371G>T" "" "pathogenic" "" "0000879261" "3" "90" "21" "46330651" "46330651" "del" "0" "04389" "ITGB2_000235" "g.46330651del" "" "Fischer unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.49delC" "" "Germline" "" "" "0" "" "" "g.44910736del" "" "pathogenic" "" "0000879262" "1" "90" "21" "46321628" "46321628" "subst" "0" "04389" "ITGB2_000185" "g.46321628T>C" "" "Fischer unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901713T>C" "" "pathogenic" "" "0000879263" "11" "90" "21" "46282852" "46310554" "del" "0" "04389" "ITGB2_000054" "g.46282852_46310554del" "" "{PMID:Cher 2011:21195692}, {DOI:Cher 2011:10.1016/j.bbrc.2010.12.124}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "g.43201_PTTG1IP:10890del27703 (NM_000211.3_c.1413-416_[NM_004339.3:c.169-1665]del)" "" "Germline" "" "" "0" "" "" "g.44862937_44890639del" "" "pathogenic" "" "0000879264" "3" "90" "21" "46326890" "46326890" "del" "0" "04389" "ITGB2_000213" "g.46326890del" "" "Klein unpubl., , {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.268delG" "" "Germline" "" "" "0" "" "" "g.44906975del" "" "pathogenic" "" "0000879265" "1" "90" "21" "46330229" "46330229" "del" "0" "04389" "ITGB2_000224" "g.46330229del" "" "Klein unpubl., , {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.120delG" "" "Germline" "" "" "0" "" "" "g.44910314del" "" "pathogenic" "" "0000879266" "3" "90" "21" "46307769" "46310286" "delins" "0" "04389" "ITGB2_000062" "g.46307769_46310286delinsTTTT" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1413-149_2080+839del2518insAAAA" "" "Germline" "" "" "0" "" "" "g.44887854_44890371delinsTTTT" "" "pathogenic" "" "0000879267" "1" "90" "21" "46313401" "46313401" "del" "0" "04389" "ITGB2_000118" "g.46313401del" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1143delC" "" "Germline" "" "" "0" "" "" "g.44893486del" "" "pathogenic" "" "0000879268" "3" "90" "21" "46309398" "46309398" "subst" "0" "04389" "ITGB2_000091" "g.46309398C>G" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44889483C>G" "" "pathogenic" "" "0000879269" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879270" "1" "90" "21" "46320363" "46320363" "subst" "0" "04389" "ITGB2_000159" "g.46320363G>A" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900448G>A" "" "pathogenic" "" "0000879271" "3" "90" "21" "46311723" "46311912" "del" "0" "04389" "ITGB2_000108" "g.(46310138_46311723)_(46311912_46313318)del" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "del ex11" "" "Germline" "" "" "0" "" "" "g.(44890223_44891808)_(44891997_44893403)del" "" "pathogenic" "" "0000879272" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "Somech unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.119_128del10" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879273" "3" "90" "21" "46309918" "46309918" "subst" "0" "04389" "ITGB2_000095" "g.46309918G>C" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44890003G>C" "" "pathogenic" "" "0000879274" "1" "90" "21" "46309918" "46309918" "subst" "0" "04389" "ITGB2_000095" "g.46309918G>C" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44890003G>C" "" "pathogenic" "" "0000879275" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "Mathews unpubl, {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}Law unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879276" "3" "90" "21" "46323397" "46323397" "subst" "8.12328E-6" "04389" "ITGB2_000205" "g.46323397C>T" "" "{PMID:Esmaeili 2014:24338230}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>T" "" "pathogenic" "" "0000879277" "3" "90" "21" "46306752" "46306752" "subst" "0" "04389" "ITGB2_000061" "g.46306752C>G" "" "{PMID:Esmaeili 2014:24338230}" "" "" "" "Germline" "" "" "0" "" "" "g.44886837C>G" "" "pathogenic" "" "0000879278" "3" "90" "21" "46309189" "46309189" "subst" "0" "04389" "ITGB2_000073" "g.46309189A>G" "" "{PMID:Esmaeili 2014:24338230}" "" "" "" "Germline" "" "" "0" "" "" "g.44889274A>G" "" "pathogenic" "" "0000879279" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Esmaeili 2014:24338230}" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879280" "3" "90" "21" "46321643" "46321643" "subst" "0" "04389" "ITGB2_000186" "g.46321643C>T" "" "{PMID:Garcia 2012:21899942}, {DOI:Garcia 2012:10.1016/j.aller.2011.05.013}" "" "" "" "Germline" "" "" "0" "" "" "g.44901728C>T" "" "pathogenic" "" "0000879281" "3" "90" "21" "46309300" "46309300" "subst" "0" "04389" "ITGB2_000088" "g.46309300A>G" "" "{PMID:Rawat 2011:21553206}, {DOI:Rawat 2011:10.1007/s12098-011-0417-x}" "" "" "" "Germline" "" "" "0" "" "" "g.44889385A>G" "" "pathogenic" "" "0000879282" "3" "90" "21" "46320363" "46320363" "subst" "0" "04389" "ITGB2_000159" "g.46320363G>A" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.44900448G>A" "" "pathogenic" "" "0000879283" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879284" "3" "90" "21" "46323397" "46323397" "subst" "8.12328E-6" "04389" "ITGB2_000205" "g.46323397C>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>T" "" "pathogenic" "" "0000879285" "3" "90" "21" "46309247" "46309247" "subst" "0" "04389" "ITGB2_000082" "g.46309247G>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44889332G>T" "" "pathogenic" "" "0000879286" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879287" "3" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879288" "3" "90" "21" "46309246" "46309246" "subst" "0" "04389" "ITGB2_000081" "g.46309246G>A" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44889331G>A" "" "pathogenic" "" "0000879289" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879290" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879291" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879292" "3" "90" "21" "46311872" "46311872" "subst" "0" "04389" "ITGB2_000114" "g.46311872G>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44891957G>A" "" "pathogenic" "" "0000879293" "3" "90" "21" "46308800" "46308800" "subst" "0" "04389" "ITGB2_000070" "g.46308800C>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44888885C>A" "" "pathogenic" "" "0000879294" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879295" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879296" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879297" "3" "90" "21" "46319013" "46319013" "subst" "4.0626E-6" "04389" "ITGB2_000136" "g.46319013G>T" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44899098G>T" "" "pathogenic" "" "0000879298" "3" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879299" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879300" "3" "90" "21" "46321643" "46321643" "subst" "0" "04389" "ITGB2_000186" "g.46321643C>T" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Yadav 2021:33325540}, {DOI:Yadav 2021:10.1111/sji.13010}" "" "" "" "Germline" "" "" "0" "" "" "g.44901728C>T" "" "pathogenic" "" "0000879301" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879302" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879303" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879304" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879305" "3" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879306" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879307" "3" "90" "21" "46320323" "46320323" "subst" "2.03103E-5" "04389" "ITGB2_000156" "g.46320323G>A" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44900408G>A" "" "pathogenic" "" "0000879308" "1" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879309" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "1224intron10+4A>G" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879310" "3" "90" "21" "46308812" "46308812" "subst" "0" "04389" "ITGB2_000072" "g.46308812T>G" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "IVS13-2A>C" "" "Germline" "" "" "0" "" "" "g.44888897T>G" "" "pathogenic" "" "0000879311" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Madkaikar 2015:25876705}, {DOI:Madkaikar 2015:10.1007/s10875-015-0155-3}" "" "1224intron10+4A>G" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879312" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Madkaikar 2015:25876705}, {DOI:Madkaikar 2015:10.1007/s10875-015-0155-3}" "" "1224intron10+4A>G" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879313" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}, {PMID:Madkaikar 2015:25876705}, {DOI:Madkaikar 2015:10.1007/s10875-015-0155-3}" "" "1224intron10+4A>G" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879314" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "1224intron10+4A>G" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879315" "3" "90" "21" "46314910" "46314912" "delins" "0" "04389" "ITGB2_000126" "g.46314910_46314912delinsN[15]" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "c.1057_1059delins15 (Val353_Ser769delinsSerSerAsn)" "" "Germline" "" "" "0" "" "" "g.44894995_44894997delinsN[15]" "" "pathogenic" "" "0000879316" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879317" "3" "90" "21" "46309300" "46309300" "subst" "0" "04389" "ITGB2_000088" "g.46309300A>G" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44889385A>G" "" "pathogenic" "" "0000879318" "3" "90" "21" "46309247" "46309247" "subst" "0" "04389" "ITGB2_000082" "g.46309247G>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44889332G>T" "" "pathogenic" "" "0000879319" "3" "90" "21" "46309246" "46309246" "subst" "0" "04389" "ITGB2_000081" "g.46309246G>A" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44889331G>A" "" "pathogenic" "" "0000879320" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879321" "3" "90" "21" "46309383" "46309383" "subst" "0" "04389" "ITGB2_000090" "g.46309383C>T" "" "{PMID:Teimourian 2019:29750748}, {DOI:Teimourian 2019:10.1097/MPH.0000000000001221}, {PMID:Teimourian 2017:28445705}, {DOI:Teimourian 2017:10.1016/j.imlet.2017.04.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44889468C>T" "" "pathogenic" "" "0000879322" "3" "90" "21" "46321442" "46321442" "subst" "0" "04389" "ITGB2_000173" "g.46321442C>A" "" "Jafari unpubl., {PMID:Grabowski 2019:30630937}, {DOI:Grabowski 2019:10.1074/mcp.RA118.001141}" "" "" "" "Germline" "" "" "0" "" "" "g.44901527C>A" "" "pathogenic" "" "0000879323" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "Jafari unpubl., {PMID:Grabowski 2019:30630937}, {DOI:Grabowski 2019:10.1074/mcp.RA118.001141}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879324" "1" "90" "21" "46309398" "46309398" "subst" "0" "04389" "ITGB2_000091" "g.46309398C>G" "" "Jafari unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44889483C>G" "" "pathogenic" "" "0000879325" "3" "90" "21" "46323379" "46323379" "subst" "0" "04389" "ITGB2_000199" "g.46323379C>A" "" "{PMID:Cabanillas 2016:27492259}, {DOI:Cabanillas 2016:10.1007/s10875-016-0322-1}" "" "" "" "Germline" "" "" "0" "" "" "g.44903464C>A" "" "pathogenic" "" "0000879326" "3" "90" "21" "46321616" "46321616" "subst" "0" "04389" "ITGB2_000184" "g.46321616G>A" "" "{PMID:Celiksoy 2021:34333755}, {DOI:Celiksoy 2021:10.1007/s12026-021-09222-3}" "" "" "" "Germline" "" "" "0" "" "" "g.44901701G>A" "" "pathogenic" "" "0000879327" "3" "90" "21" "46321616" "46321616" "subst" "0" "04389" "ITGB2_000184" "g.46321616G>A" "" "{PMID:Celiksoy 2021:34333755}, {DOI:Celiksoy 2021:10.1007/s12026-021-09222-3}" "" "" "" "Germline" "" "" "0" "" "" "g.44901701G>A" "" "pathogenic" "" "0000879328" "3" "90" "21" "46321616" "46321616" "subst" "0" "04389" "ITGB2_000184" "g.46321616G>A" "" "{PMID:Celiksoy 2021:34333755}, {DOI:Celiksoy 2021:10.1007/s12026-021-09222-3}" "" "" "" "Germline" "" "" "0" "" "" "g.44901701G>A" "" "pathogenic" "" "0000879329" "3" "90" "21" "46326890" "46326890" "del" "0" "04389" "ITGB2_000213" "g.46326890del" "" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "c.268delG" "" "Germline" "" "" "0" "" "" "g.44906975del" "" "pathogenic" "" "0000879330" "3" "90" "21" "46306347" "46306347" "subst" "0" "04389" "ITGB2_000057" "g.46306347T>C" "" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "IVS15-2A>G" "" "Germline" "" "" "0" "" "" "g.44886432T>C" "" "pathogenic" "" "0000879331" "3" "90" "21" "46330267" "46330267" "subst" "4.06256E-6" "04389" "ITGB2_000228" "g.46330267T>A" "" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "" "" "Germline" "" "" "0" "" "" "g.44910352T>A" "" "pathogenic" "" "0000879332" "1" "90" "21" "46320323" "46320323" "subst" "2.03103E-5" "04389" "ITGB2_000156" "g.46320323G>A" "" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "" "" "Germline" "" "" "0" "" "" "g.44900408G>A" "" "pathogenic" "" "0000879333" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879334" "3" "90" "21" "46309918" "46309918" "subst" "0" "04389" "ITGB2_000095" "g.46309918G>C" "" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "Germline" "" "" "0" "" "" "g.44890003G>C" "" "pathogenic" "" "0000879335" "3" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879336" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879337" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879338" "3" "90" "21" "46330697" "46330697" "subst" "0" "04389" "ITGB2_000240" "g.46330697T>A" "" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "Germline" "" "" "0" "" "" "g.44910782T>A" "" "pathogenic" "" "0000879339" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Deshpande 2016:26924654}, {DOI:Deshpande 2016:10.1007/s12098-016-2051-0}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879340" "3" "90" "21" "46313446" "46313446" "del" "0" "04389" "ITGB2_000119" "g.46313446del" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "c.1099delG" "" "Germline" "" "" "0" "" "" "g.44893531del" "" "pathogenic" "" "0000879341" "3" "90" "21" "46313446" "46313446" "del" "0" "04389" "ITGB2_000119" "g.46313446del" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "c.1099delG" "" "Germline" "" "" "0" "" "" "g.44893531del" "" "pathogenic" "" "0000879342" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879343" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879344" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879345" "3" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879346" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Wolach 2019:30412664}, {DOI:Wolach 2019:10.1111/eci.13047}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879347" "3" "90" "21" "46314935" "46314935" "subst" "0" "04389" "ITGB2_000128" "g.46314935A>G" "" "Harvey 2020 (Ir Med J. 113:129-131)" "" "" "" "Germline" "" "" "0" "" "" "g.44895020A>G" "" "pathogenic" "" "0000879348" "1" "90" "21" "46319023" "46319023" "del" "0" "04389" "ITGB2_000138" "g.46319023del" "" "{PMID:Lin 2018:30078245}, {DOI:Lin 2018:10.3760/cma.j.issn.0578-1310.2018.08.012}, {PMID:Hu 2018:30041527}" "" "c.954delC" "" "Germline" "" "" "0" "" "" "g.44899108del" "" "pathogenic" "" "0000879349" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Hu 2014:25443357}, {DOI:Hu 2014:10.1016/j.jfma.2012.11.008}" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879350" "1" "90" "21" "46330638" "46330657" "dup" "0" "04389" "ITGB2_000234" "g.46330638_46330657dup" "" "{PMID:Kurosawa 2018:28538512}, {DOI:Kurosawa 2018:10.1097/MPH.0000000000000853}" "" "c.41_58+2dup20" "" "Germline" "" "" "0" "" "" "g.44910723_44910742dup" "" "pathogenic" "" "0000879351" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kwon 2020:32009323}, {DOI:Kwon 2020:10.4168/aair.2020.12.2.292}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879352" "1" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kwon 2020:32009323}, {DOI:Kwon 2020:10.4168/aair.2020.12.2.292}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879353" "3" "90" "21" "46314885" "46314976" "del" "0" "04389" "ITGB2_000123" "g.(46313460_46314885)_(46314976_46318981)del" "" "{PMID:Lee 2012:23268471}, {DOI:Lee 2012:10.1097/WOX.0b013e31824af5e3}" "" "c.994-…_1083+…del2490 ex9" "" "Germline" "" "" "0" "" "" "g.(44893545_44894970)_(44895061_44899066del" "" "pathogenic" "" "0000879354" "3" "90" "21" "46321457" "46321457" "subst" "0" "04389" "ITGB2_000053" "g.46321457C>G" "" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "" "" "Germline" "" "" "0" "" "" "g.44901542C>G" "" "pathogenic" "" "0000879355" "3" "90" "21" "46309383" "46309383" "subst" "0" "04389" "ITGB2_000090" "g.46309383C>T" "" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "" "" "Germline" "" "" "0" "" "" "g.44889468C>T" "" "pathogenic" "" "0000879356" "3" "90" "21" "46311800" "46311800" "subst" "0" "04389" "ITGB2_000111" "g.46311800C>A" "" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "" "" "Germline" "" "" "0" "" "" "g.44891885C>A" "" "pathogenic" "" "0000879357" "3" "90" "21" "46323305" "46323305" "dup" "0" "04389" "ITGB2_000193" "g.46323305dup" "" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "c.474dupC" "" "Germline" "" "" "0" "" "" "g.44903390dup" "" "pathogenic" "" "0000879358" "3" "90" "21" "46309247" "46309247" "subst" "0" "04389" "ITGB2_000082" "g.46309247G>T" "" "Mortezaee 2015 (Arch Iran Med. 18:760-764)" "" "" "" "Germline" "" "" "0" "" "" "g.44889332G>T" "" "pathogenic" "" "0000879359" "3" "90" "21" "46305868" "46306818" "del" "0" "04389" "ITGB2_000055" "g.(?_46305868)_(46306818_46308607)del" "" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "del ex15-16" "" "Germline" "" "" "0" "" "" "g.(?_44885953)_(44886903_44888692)del" "" "pathogenic" "" "0000879360" "3" "90" "21" "46305868" "46306818" "del" "0" "04389" "ITGB2_000055" "g.(?_46305868)_(46306818_46308607)del" "" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "del ex15-16" "" "Germline" "" "" "0" "" "" "g.(?_44885953)_(44886903_44888692)del" "" "pathogenic" "" "0000879361" "3" "90" "21" "46308611" "46308611" "subst" "0" "04389" "ITGB2_000064" "g.46308611G>A" "" "Mathews unpubl, {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44888696G>A" "" "pathogenic" "" "0000879362" "3" "90" "21" "46320363" "46320363" "subst" "0" "04389" "ITGB2_000159" "g.46320363G>A" "" "Mathews unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44900448G>A" "" "pathogenic" "" "0000879363" "3" "90" "21" "46320234" "46320391" "del" "0" "04389" "ITGB2_000147" "g.(46319078_46320234)_(46320391_46321406)del" "" "Iran unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "del ex7" "" "Germline" "" "" "0" "" "" "g.(44899163_44900319)_(44900476_44901491)del" "" "pathogenic" "" "0000879364" "3" "90" "21" "46321616" "46321616" "subst" "0" "04389" "ITGB2_000184" "g.46321616G>A" "" "Köker unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44901701G>A" "" "pathogenic" "" "0000879365" "3" "90" "21" "46321616" "46321616" "subst" "0" "04389" "ITGB2_000184" "g.46321616G>A" "" "Köker unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44901701G>A" "" "pathogenic" "" "0000879366" "3" "90" "21" "46323391" "46323391" "subst" "0" "04389" "ITGB2_000203" "g.46323391A>G" "" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "" "" "Germline" "" "" "0" "" "" "g.44903476A>G" "" "pathogenic" "" "0000879367" "3" "90" "21" "46323391" "46323391" "subst" "0" "04389" "ITGB2_000203" "g.46323391A>G" "" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "" "" "Germline" "" "" "0" "" "" "g.44903476A>G" "" "pathogenic" "" "0000879368" "3" "90" "21" "46323391" "46323391" "subst" "0" "04389" "ITGB2_000203" "g.46323391A>G" "" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "" "" "Germline" "" "" "0" "" "" "g.44903476A>G" "" "pathogenic" "" "0000879369" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "Köker unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879370" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879371" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{DOI:Haskologlu 2020:10.12956/tchd.685332}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879372" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879373" "11" "90" "21" "46309274" "46309274" "dup" "0" "04389" "ITGB2_000085" "g.46309274dup" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "c.1794dupC" "" "Germline" "" "" "0" "" "" "g.44889359dup" "" "pathogenic" "" "0000879374" "11" "90" "21" "46309280" "46309280" "subst" "0" "04389" "ITGB2_000086" "g.46309280G>T" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "" "" "Germline" "" "" "0" "" "" "g.44889365G>T" "" "pathogenic" "" "0000879375" "11" "90" "21" "46320284" "46320292" "del" "0" "04389" "ITGB2_000150" "g.46320284_46320292del" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "c.841_849del9" "" "Germline" "" "" "0" "" "" "g.44900369_44900377del" "" "pathogenic" "" "0000879376" "21" "90" "21" "46320363" "46320363" "subst" "0" "04389" "ITGB2_000159" "g.46320363G>A" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "" "" "Germline" "" "" "0" "" "" "g.44900448G>A" "" "pathogenic" "" "0000879377" "3" "90" "21" "46330212" "46330212" "subst" "0" "04389" "ITGB2_000221" "g.46330212C>T" "" "{PMID:Qureshi 2020:32793328}, {DOI:Qureshi 2020:10.1016/j.waojou.2020.100133}" "" "" "" "Germline" "" "" "0" "" "" "g.44910297C>T" "" "pathogenic" "" "0000879378" "3" "90" "21" "46309233" "46309233" "subst" "0" "04389" "ITGB2_000078" "g.46309233C>A" "" "{PMID:Strickler 2015:25858935}, {DOI:Strickler 2015:10.1136/bcr-2014-208973}" "" "" "" "Germline" "" "" "0" "" "" "g.44889318C>A" "" "pathogenic" "" "0000879379" "11" "90" "21" "46321407" "46321407" "del" "0" "04389" "ITGB2_000168" "g.46321407del" "" "{PMID:Sun 2019:30919141}, {DOI:Sun 2019:10.1007/s10875-019-00617-4}" "" "IVS6+1delG" "" "Germline" "" "" "0" "" "" "g.44901492del" "" "pathogenic" "" "0000879380" "11" "90" "21" "46318981" "46330701" "del" "0" "04389" "ITGB2_000134" "g.(46314976_46318981)_(46330701_46340735)del" "" "{PMID:Sun 2019:30919141}, {DOI:Sun 2019:10.1007/s10875-019-00617-4}" "" "del ex2-8" "" "Germline" "" "" "0" "" "" "g.(44895061_44899066)_(44910786_44920820)del" "" "pathogenic" "" "0000879381" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Teimourian 2017:28445705}, {DOI:Teimourian 2017:10.1016/j.imlet.2017.04.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879382" "3" "90" "21" "46320378" "46320378" "subst" "0" "04389" "ITGB2_000163" "g.46320378A>G" "" "{PMID:Teimourian 2017:28445705}, {DOI:Teimourian 2017:10.1016/j.imlet.2017.04.012}" "" "" "" "Germline" "" "" "0" "" "" "g.44900463A>G" "" "pathogenic" "" "0000879383" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879384" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879385" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879386" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879387" "3" "90" "21" "46326972" "46326972" "subst" "0" "04389" "ITGB2_000217" "g.46326972G>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44907057G>T" "" "pathogenic" "" "0000879388" "3" "90" "21" "46326972" "46326972" "subst" "0" "04389" "ITGB2_000217" "g.46326972G>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44907057G>T" "" "pathogenic" "" "0000879389" "3" "90" "21" "46326972" "46326972" "subst" "0" "04389" "ITGB2_000217" "g.46326972G>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44907057G>T" "" "pathogenic" "" "0000879390" "3" "90" "21" "46326972" "46326972" "subst" "0" "04389" "ITGB2_000217" "g.46326972G>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44907057G>T" "" "pathogenic" "" "0000879391" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879392" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879393" "3" "90" "21" "46320275" "46320275" "subst" "0" "04389" "ITGB2_000149" "g.46320275C>A" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44900360C>A" "" "pathogenic" "" "0000879394" "3" "90" "21" "46326972" "46326972" "subst" "0" "04389" "ITGB2_000217" "g.46326972G>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44907057G>T" "" "pathogenic" "" "0000879395" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879396" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Tipu 2020:32279896}, {DOI:Tipu 2020:10.1016/j.imbio.2020.151938}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879397" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Yamazaki-Nakashimada 2015:25527966}, {DOI:Yamazaki-Nakashimada 2015:10.1007/s12026-014-8619-8}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879398" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Yamazaki-Nakashimada 2015:25527966}, {DOI:Yamazaki-Nakashimada 2015:10.1007/s12026-014-8619-8}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879399" "1" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "715G>A;1062A>T" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879400" "3" "90" "21" "46308784" "46308784" "del" "0" "04389" "ITGB2_000068" "g.46308784del" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "c.1907delA" "" "Germline" "" "" "0" "" "" "g.44888869del" "" "pathogenic" "" "0000879401" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879402" "3" "90" "21" "46306751" "46306751" "subst" "0" "04389" "ITGB2_000059" "g.46306751C>G" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44886836C>G" "" "pathogenic" "" "0000879403" "3" "90" "21" "46313401" "46313401" "del" "0" "04389" "ITGB2_000118" "g.46313401del" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "c.1143delC" "" "Germline" "" "" "0" "" "" "g.44893486del" "" "pathogenic" "" "0000879404" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879405" "1" "90" "21" "46321575" "46321575" "dup" "0" "04389" "ITGB2_000180" "g.46321575dup" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "c.576dupC" "" "Germline" "" "" "0" "" "" "g.44901660dup" "" "pathogenic" "" "0000879406" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879407" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879408" "3" "90" "21" "46323456" "46323456" "subst" "0" "04389" "ITGB2_000207" "g.46323456G>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "IVS4-6C>A" "" "Germline" "" "" "0" "" "" "g.44903541G>T" "" "pathogenic" "" "0000879409" "1" "90" "21" "46320234" "46320234" "subst" "0" "04389" "ITGB2_000145" "g.46320234C>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "IVS7+1G>T" "" "Germline" "" "" "0" "" "" "g.44900319C>A" "" "pathogenic" "" "0000879410" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879411" "3" "90" "21" "46308784" "46308784" "del" "0" "04389" "ITGB2_000068" "g.46308784del" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "c.1907delA" "" "Germline" "" "" "0" "" "" "g.44888869del" "" "pathogenic" "" "0000879412" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879413" "3" "90" "21" "46321442" "46321442" "subst" "4.06471E-6" "04389" "ITGB2_000174" "g.46321442C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44901527C>T" "" "pathogenic" "" "0000879414" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879415" "3" "90" "21" "46309189" "46309189" "subst" "0" "04389" "ITGB2_000073" "g.46309189A>G" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "IVS13+2T>C" "" "Germline" "" "" "0" "" "" "g.44889274A>G" "" "pathogenic" "" "0000879416" "1" "90" "21" "46320293" "46320293" "del" "0" "04389" "ITGB2_000153" "g.46320293del" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "843delC;1062A>T" "" "Germline" "" "" "0" "" "" "g.44900378del" "" "pathogenic" "" "0000879417" "3" "90" "21" "46314939" "46314939" "subst" "0" "04389" "ITGB2_000129" "g.46314939C>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019}" "" "1030G>T;1062A>T" "" "Germline" "" "" "0" "" "" "g.44895024C>A" "" "pathogenic" "" "0000879418" "1" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879419" "3" "90" "21" "46308610" "46310139" "del" "0" "04389" "ITGB2_000062" "g.46308610_46310139del" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "c.1413_2080del" "" "Germline" "" "" "0" "" "" "g.44888695_44890224del" "" "pathogenic" "" "0000879420" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879421" "3" "90" "21" "46320346" "46320353" "dup" "0" "04389" "ITGB2_000158" "g.46320346_46320353dup" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44900431_44900438dup" "" "pathogenic" "" "0000879422" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879423" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879424" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879425" "3" "90" "21" "46326855" "46326856" "del" "0" "04389" "ITGB2_000212" "g.46326855_46326856del" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "c.305_306delAA" "" "Germline" "" "" "0" "" "" "g.44906940_44906941del" "" "pathogenic" "" "0000879426" "3" "90" "21" "46326855" "46326856" "del" "0" "04389" "ITGB2_000212" "g.46326855_46326856del" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "c.305_306delAA" "" "Germline" "" "" "0" "" "" "g.44906940_44906941del" "" "pathogenic" "" "0000879427" "3" "90" "21" "46326855" "46326856" "del" "0" "04389" "ITGB2_000212" "g.46326855_46326856del" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "c.305_306delAA" "" "Germline" "" "" "0" "" "" "g.44906940_44906941del" "" "pathogenic" "" "0000879428" "3" "90" "21" "46326855" "46326856" "del" "0" "04389" "ITGB2_000212" "g.46326855_46326856del" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "c.305_306delAA" "" "Germline" "" "" "0" "" "" "g.44906940_44906941del" "" "pathogenic" "" "0000879429" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879430" "3" "90" "21" "46326855" "46326856" "del" "0" "04389" "ITGB2_000212" "g.46326855_46326856del" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "c.305_306delAA" "" "Germline" "" "" "0" "" "" "g.44906940_44906941del" "" "pathogenic" "" "0000879431" "3" "90" "21" "46326855" "46326856" "del" "0" "04389" "ITGB2_000212" "g.46326855_46326856del" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "c.305_306delAA" "" "Germline" "" "" "0" "" "" "g.44906940_44906941del" "" "pathogenic" "" "0000879432" "3" "90" "21" "46323397" "46323397" "subst" "8.12328E-6" "04389" "ITGB2_000205" "g.46323397C>T" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>T" "" "pathogenic" "" "0000879433" "3" "90" "21" "46310015" "46310016" "del" "0" "04389" "ITGB2_000102" "g.46310015_46310016del" "" "{PMID:Zhang 2019:31374327}, {DOI:Zhang 2019:10.1016/j.gene.2019.144027}" "" "c.1537_1538delGT" "" "Germline" "" "" "0" "" "" "g.44890100_44890101del" "" "pathogenic" "" "0000879434" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "Klein unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879435" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "Klein unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879437" "3" "90" "21" "46306347" "46306347" "subst" "0" "04389" "ITGB2_000057" "g.46306347T>C" "" "{PMID:Moutsopoulos 2017:28328326}, {DOI:Moutsopoulos 2017:10.1056/NEJMoa1612197}" "" "VS15-2A>G" "" "Germline" "" "" "0" "" "" "g.44886432T>C" "" "pathogenic" "" "0000879438" "3" "90" "21" "46314907" "46314912" "delins" "0" "04389" "ITGB2_000124" "g.46314907_46314912delinsATGACATTAATTAGAGGA" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "(Val353_Ser769delinsSerSerAsn)" "" "Germline" "" "" "0" "" "" "g.44894995_44894997delinsACATTAATTAGAGGA" "" "pathogenic" "" "0000879439" "3" "90" "21" "46314907" "46314912" "delins" "0" "04389" "ITGB2_000124" "g.46314907_46314912delinsATGACATTAATTAGAGGA" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "(Val353_Ser769delinsSerSerAsn)" "" "Germline" "" "" "0" "" "" "g.44894995_44894997delinsACATTAATTAGAGGA" "" "pathogenic" "" "0000879440" "3" "90" "21" "46309918" "46309918" "subst" "0" "04389" "ITGB2_000095" "g.46309918G>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44890003G>C" "" "pathogenic" "" "0000879441" "1" "90" "21" "46309918" "46309918" "subst" "0" "04389" "ITGB2_000095" "g.46309918G>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44890003G>C" "" "pathogenic" "" "0000879442" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879443" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879444" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879445" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879446" "3" "90" "21" "46321643" "46321643" "subst" "0" "04389" "ITGB2_000186" "g.46321643C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901728C>T" "" "pathogenic" "" "0000879447" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879448" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879449" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879450" "1" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879451" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879452" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879453" "3" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879454" "3" "90" "21" "46319013" "46319013" "subst" "4.0626E-6" "04389" "ITGB2_000136" "g.46319013G>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44899098G>T" "" "pathogenic" "" "0000879455" "3" "90" "21" "46308800" "46308800" "subst" "0" "04389" "ITGB2_000070" "g.46308800C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888885C>A" "" "pathogenic" "" "0000879456" "1" "90" "21" "46311872" "46311872" "subst" "0" "04389" "ITGB2_000114" "g.46311872G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44891957G>A" "" "pathogenic" "" "0000879457" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879458" "3" "90" "21" "46320323" "46320323" "subst" "2.03103E-5" "04389" "ITGB2_000156" "g.46320323G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900408G>A" "" "pathogenic" "" "0000879459" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879460" "1" "50" "21" "46320381" "46320381" "subst" "2.03381E-5" "04389" "ITGB2_000164" "g.46320381C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "751G>A;1878-2A>C" "" "Germline" "" "" "0" "" "" "g.44900466C>T" "" "VUS" "" "0000879461" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879462" "3" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879463" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879464" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879465" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879466" "3" "90" "21" "46313315" "46313315" "subst" "1.21866E-5" "04389" "ITGB2_000116" "g.46313315T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44893400T>C" "" "pathogenic" "" "0000879467" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879468" "3" "90" "21" "46330240" "46330240" "subst" "0" "04389" "ITGB2_000226" "g.46330240A>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44910325A>T" "" "pathogenic" "" "0000879469" "3" "90" "21" "46321433" "46321433" "subst" "0" "04389" "ITGB2_000170" "g.46321433C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879470" "3" "90" "21" "46321643" "46321643" "subst" "0" "04389" "ITGB2_000186" "g.46321643C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901728C>T" "" "pathogenic" "" "0000879471" "3" "90" "21" "46321643" "46321643" "subst" "0" "04389" "ITGB2_000186" "g.46321643C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901728C>T" "" "pathogenic" "" "0000879472" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879473" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879474" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879475" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879476" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879477" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879478" "3" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879479" "3" "90" "21" "46321532" "46321532" "subst" "0" "04389" "ITGB2_000176" "g.46321532G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901617G>A" "" "pathogenic" "" "0000879480" "3" "90" "21" "46321438" "46321438" "subst" "0" "04389" "ITGB2_000172" "g.46321438A>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901523A>C" "" "pathogenic" "" "0000879481" "3" "90" "21" "46321423" "46321423" "subst" "0" "04389" "ITGB2_000169" "g.46321423T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901508T>C" "" "pathogenic" "" "0000879482" "3" "90" "21" "46320376" "46320376" "subst" "0" "04389" "ITGB2_000161" "g.46320376C>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900461C>G" "" "pathogenic" "" "0000879483" "3" "90" "21" "46309929" "46309929" "subst" "0" "04389" "ITGB2_000098" "g.46309929A>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44890014A>G" "" "pathogenic" "" "0000879484" "3" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "322C>T;758G>A" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879485" "3" "90" "21" "46323386" "46323386" "subst" "0" "04389" "ITGB2_000200" "g.46323386A>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44903471A>T" "" "pathogenic" "" "0000879486" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879487" "3" "90" "21" "46321490" "46321490" "subst" "0" "04389" "ITGB2_000175" "g.46321490C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901575C>A" "" "pathogenic" "" "0000879488" "3" "90" "21" "46309960" "46309960" "subst" "0" "04389" "ITGB2_000100" "g.46309960G>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44890045G>C" "" "pathogenic" "" "0000879489" "3" "90" "21" "46309202" "46309202" "subst" "0" "04389" "ITGB2_000076" "g.46309202A>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44889287A>T" "" "pathogenic" "" "0000879490" "3" "90" "21" "46308800" "46308800" "subst" "0" "04389" "ITGB2_000070" "g.46308800C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888885C>A" "" "pathogenic" "" "0000879491" "3" "90" "21" "46326946" "46326946" "del" "0" "04389" "ITGB2_000215" "g.46326946del" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.212delG" "" "Germline" "" "" "0" "" "" "g.44907031del" "" "pathogenic" "" "0000879492" "3" "90" "21" "46318996" "46318998" "del" "0" "04389" "ITGB2_000135" "g.46318996_46318998del" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.979_981delGTG" "" "Germline" "" "" "0" "" "" "g.44899081_44899083del" "" "pathogenic" "" "0000879493" "3" "90" "21" "46309270" "46309270" "del" "0" "04389" "ITGB2_000084" "g.46309270del" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.1798delG" "" "Germline" "" "" "0" "" "" "g.44889355del" "" "pathogenic" "" "0000879494" "3" "90" "21" "46321592" "46321592" "dup" "0" "04389" "ITGB2_000182" "g.46321592dup" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.557_558insA" "" "Germline" "" "" "0" "" "" "g.44901677dup" "" "pathogenic" "" "0000879495" "3" "90" "21" "46319033" "46319036" "dup" "0" "04389" "ITGB2_000139" "g.46319033_46319036dup" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.941_944dupACAA" "" "Germline" "" "" "0" "" "" "g.44899118_44899121dup" "" "pathogenic" "" "0000879496" "3" "90" "21" "46323279" "46323279" "subst" "0" "04389" "ITGB2_000191" "g.46323279C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44903364C>A" "" "pathogenic" "" "0000879497" "3" "90" "21" "46320391" "46320391" "subst" "0" "04389" "ITGB2_000165" "g.46320391C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900476C>T" "" "pathogenic" "" "0000879498" "3" "90" "21" "46320391" "46320391" "subst" "0" "04389" "ITGB2_000165" "g.46320391C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900476C>T" "" "pathogenic" "" "0000879499" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879500" "1" "50" "21" "46320381" "46320381" "subst" "2.03381E-5" "04389" "ITGB2_000164" "g.46320381C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "751G>A;1658-2A>G" "" "Germline" "" "" "0" "" "" "g.44900466C>T" "" "VUS" "" "0000879501" "3" "90" "21" "46308812" "46308812" "subst" "0" "04389" "ITGB2_000072" "g.46308812T>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888897T>G" "" "pathogenic" "" "0000879502" "3" "90" "21" "46308811" "46308811" "subst" "4.25431E-6" "04389" "ITGB2_000071" "g.46308811C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888896C>T" "" "pathogenic" "" "0000879503" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879504" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879505" "3" "90" "21" "46319022" "46319022" "subst" "0" "04389" "ITGB2_000137" "g.46319022G>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44899107G>T" "" "pathogenic" "" "0000879506" "3" "90" "21" "46310075" "46310078" "del" "0" "04389" "ITGB2_000106" "g.46310075_46310078del" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.1472_1475delAGGA" "" "Germline" "" "" "0" "" "" "g.44890160_44890163del" "" "pathogenic" "" "0000879507" "3" "90" "21" "46323452" "46323452" "subst" "0" "04389" "ITGB2_000206" "g.46323452T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44903537T>C" "" "pathogenic" "" "0000879508" "1" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879509" "1" "90" "21" "46320381" "46320381" "subst" "2.03381E-5" "04389" "ITGB2_000164" "g.46320381C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900466C>T" "" "pathogenic" "" "0000879510" "1" "90" "21" "46320381" "46320381" "subst" "2.03381E-5" "04389" "ITGB2_000164" "g.46320381C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900466C>T" "" "pathogenic" "" "0000879511" "1" "90" "21" "46320381" "46320381" "subst" "2.03381E-5" "04389" "ITGB2_000164" "g.46320381C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900466C>T" "" "pathogenic" "" "0000879512" "1" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879513" "3" "90" "21" "46311868" "46311915" "del" "0" "04389" "ITGB2_000113" "g.46311868_46311915del" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.1225-4_1268del48" "" "Germline" "" "" "0" "" "" "g.44891953_44892000del" "" "pathogenic" "" "0000879514" "3" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879515" "3" "90" "21" "46309228" "46309228" "subst" "0" "04389" "ITGB2_000077" "g.46309228C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44889313C>A" "" "pathogenic" "" "0000879516" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879517" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879518" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879519" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879520" "1" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879521" "1" "90" "21" "46308633" "46308633" "subst" "0" "04389" "ITGB2_000066" "g.46308633G>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888718G>T" "" "pathogenic" "" "0000879522" "3" "90" "21" "46309228" "46309228" "subst" "0" "04389" "ITGB2_000077" "g.46309228C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44889313C>A" "" "pathogenic" "" "0000879523" "3" "90" "21" "46320312" "46320312" "dup" "0" "04389" "ITGB2_000154" "g.46320312dup" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.821dupA" "" "Germline" "" "" "0" "" "" "g.44900397dup" "" "pathogenic" "" "0000879524" "3" "90" "21" "46309300" "46309300" "subst" "0" "04389" "ITGB2_000088" "g.46309300A>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44889385A>G" "" "pathogenic" "" "0000879525" "3" "90" "21" "46308611" "46308611" "subst" "0" "04389" "ITGB2_000064" "g.46308611G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888696G>A" "" "pathogenic" "" "0000879526" "3" "90" "21" "46308611" "46308611" "subst" "0" "04389" "ITGB2_000064" "g.46308611G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888696G>A" "" "pathogenic" "" "0000879527" "3" "90" "21" "46308611" "46308611" "subst" "0" "04389" "ITGB2_000064" "g.46308611G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888696G>A" "" "pathogenic" "" "0000879528" "3" "90" "21" "46319033" "46319036" "dup" "0" "04389" "ITGB2_000139" "g.46319033_46319036dup" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.941_944dupACAA" "" "Germline" "" "" "0" "" "" "g.44899118_44899121dup" "" "pathogenic" "" "0000879529" "3" "90" "21" "46323279" "46323279" "subst" "0" "04389" "ITGB2_000192" "g.46323279C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44903364C>T" "" "pathogenic" "" "0000879530" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879531" "3" "90" "21" "46308611" "46308611" "subst" "0" "04389" "ITGB2_000064" "g.46308611G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888696G>A" "" "pathogenic" "" "0000879532" "3" "90" "21" "46308611" "46308611" "subst" "0" "04389" "ITGB2_000064" "g.46308611G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888696G>A" "" "pathogenic" "" "0000879533" "3" "90" "21" "46310034" "46310034" "del" "0" "04389" "ITGB2_000103" "g.46310034del" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "c.1516delT" "" "Germline" "" "" "0" "" "" "g.44890119del" "" "pathogenic" "" "0000879534" "3" "90" "21" "46314882" "46314882" "subst" "0" "04389" "ITGB2_000121" "g.46314882T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44894967T>C" "" "pathogenic" "" "0000879535" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879536" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "Kambli/Mad unpubl. , {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879537" "3" "90" "21" "46319055" "46319055" "subst" "0" "04389" "ITGB2_000140" "g.46319055A>C" "" "Kambli/Mad unpubl. , {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44899140A>C" "" "pathogenic" "" "0000879538" "1" "90" "21" "46319033" "46319036" "dup" "0" "04389" "ITGB2_000139" "g.46319033_46319036dup" "" "Kambli/Mad unpubl. , {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.941_944dupACAA" "" "Germline" "" "" "0" "" "" "g.44899118_44899121dup" "" "pathogenic" "" "0000879539" "3" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "Kambli/Mad unpubl. , {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "IVS7+1G>A" "homozygosity likely" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879540" "3" "90" "21" "46327011" "46327011" "subst" "0" "04389" "ITGB2_000219" "g.46327011C>T" "" "Rawat unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "IVS3-1G>A" "" "Germline" "" "" "0" "" "" "g.44907096C>T" "" "pathogenic" "" "0000879541" "1" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "Kanegane unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879542" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879543" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879544" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879545" "1" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879546" "1" "90" "21" "46330219" "46330228" "del" "0" "04389" "ITGB2_000223" "g.46330219_46330228del" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.119_128del10" "" "Germline" "" "" "0" "" "" "g.44910304_44910313del" "" "pathogenic" "" "0000879547" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879548" "3" "90" "21" "46323397" "46323397" "subst" "0" "04389" "ITGB2_000204" "g.46323397C>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44903482C>A" "" "pathogenic" "" "0000879549" "3" "90" "21" "46309190" "46309190" "subst" "0" "04389" "ITGB2_000074" "g.46309190C>T" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "IVS13+1G>A" "" "Germline" "" "" "0" "" "" "g.44889275C>T" "" "pathogenic" "" "0000879550" "3" "90" "21" "46326836" "46326836" "subst" "0" "00006" "ITGB2_000210" "g.46326836G>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879551" "3" "90" "21" "46321433" "46321433" "subst" "0" "00006" "ITGB2_000170" "g.46321433C>T" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44901518C>T" "" "pathogenic" "" "0000879552" "1" "90" "21" "46308618" "46308618" "del" "0" "00006" "ITGB2_000065" "g.46308618del" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.2070delT" "" "Germline" "" "" "0" "" "" "g.44888703del" "" "pathogenic" "" "0000879553" "1" "90" "21" "46320323" "46320323" "subst" "2.03103E-5" "00006" "ITGB2_000156" "g.46320323G>A" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44900408G>A" "" "pathogenic" "" "0000879554" "1" "90" "21" "46326972" "46326972" "subst" "0" "00006" "ITGB2_000217" "g.46326972G>T" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44907057G>T" "" "pathogenic" "" "0000879555" "1" "90" "21" "46321616" "46321616" "subst" "0" "00006" "ITGB2_000184" "g.46321616G>A" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44901701G>A" "" "pathogenic" "" "0000879556" "3" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "00006" "ITGB2_000052" "g.46320282C>T" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879557" "1" "90" "21" "46323390" "46323390" "subst" "0" "00006" "ITGB2_000202" "g.46323390T>C" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44903475T>C" "" "pathogenic" "" "0000879558" "3" "90" "21" "46309398" "46309398" "subst" "0" "00006" "ITGB2_000091" "g.46309398C>G" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44889483C>G" "" "pathogenic" "" "0000879559" "3" "90" "21" "46320287" "46320289" "del" "0" "04389" "ITGB2_000152" "g.46320287_46320289del" "" "{PMID:Bouhouche 2022:35281597}, {DOI:Bouhouche 2022:10.1155/2022/1141280}" "" "c.844_846delAAC" "" "Germline" "" "" "0" "" "" "g.44900372_44900374del" "" "pathogenic" "" "0000879560" "3" "90" "21" "46309905" "46309905" "subst" "0" "04389" "ITGB2_000094" "g.46309905A>G" "" "{PMID:Fournier 2022:35312910}, {DOI:Fournier 2022:10.1007/s10875-022-01253-1}" "" "" "" "Germline" "" "" "0" "" "" "g.44889990A>G" "" "pathogenic" "" "0000879561" "3" "90" "21" "46320312" "46320312" "dup" "0" "04389" "ITGB2_000154" "g.46320312dup" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "c.821dupA" "" "Germline" "" "" "0" "" "" "g.44900397dup" "" "pathogenic" "" "0000879562" "3" "50" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "850G>A;821dupA" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "VUS" "" "0000879563" "3" "90" "21" "46330288" "46330288" "subst" "0" "04389" "ITGB2_000231" "g.46330288C>T" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "" "" "Germline" "" "" "0" "" "" "g.44910373C>T" "" "pathogenic" "" "0000879564" "3" "90" "21" "46330212" "46330212" "subst" "0" "04389" "ITGB2_000221" "g.46330212C>T" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "" "" "Germline" "" "" "0" "" "" "g.44910297C>T" "" "pathogenic" "" "0000879565" "3" "90" "21" "46309892" "46309892" "subst" "0" "04389" "ITGB2_000093" "g.46309892C>A" "" "{PMID:Hao 2021:33942430}, {DOI:Hao 2021:10.1002/humu.24216}" "" "c.1657intron12+1G>T" "" "Germline" "" "" "0" "" "" "g.44889977C>A" "" "pathogenic" "" "0000879566" "3" "90" "21" "46330235" "46330239" "del" "0" "04389" "ITGB2_000225" "g.46330235_46330239del" "" "{PMID:Stranneheim 2021:33726816}, {DOI:Stranneheim 2021:10.1186/s13073-021-00855-5}" "" "c.108_112delCATCG" "" "Germline" "" "" "0" "" "" "g.44910320_44910324del" "" "pathogenic" "" "0000879567" "1" "90" "21" "46309280" "46309280" "subst" "0" "04389" "ITGB2_000086" "g.46309280G>T" "" "{PMID:Wang 2020:31965297}, {DOI:Wang 2020:10.1007/s00439-019-02103-8}" "" "" "" "Germline" "" "" "0" "" "" "g.44889365G>T" "" "pathogenic" "" "0000879568" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879569" "3" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879570" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879571" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879572" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879573" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879574" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879575" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879576" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879577" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879578" "3" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879579" "3" "90" "21" "46311735" "46311735" "subst" "0" "04389" "ITGB2_000109" "g.46311735G>T" "" "{DOI:Kechout 2020:10.1016/j.mgene.2020.100746}" "" "" "" "Germline" "" "" "0" "" "" "g.44891820G>T" "" "pathogenic" "" "0000879580" "0" "90" "21" "46314917" "46314917" "subst" "0" "04389" "ITGB2_000127" "g.46314917T>C" "" "{PMID:Nelson 1992:1346613}, {PMID:Uzel 2008:28328327}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "De novo" "" "" "0" "" "" "g.44895002T>C" "" "pathogenic" "" "0000879581" "2" "90" "21" "46309948" "46309948" "subst" "1.62562E-5" "04389" "ITGB2_000099" "g.46309948G>T" "" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "" "Germline" "" "" "0" "" "" "g.44890033G>T" "" "pathogenic" "" "0000879582" "2" "90" "21" "46308618" "46308618" "del" "0" "04389" "ITGB2_000065" "g.46308618del" "" "{PMID:Wardlaw 1990:1694220}, {DOI:Wardlaw 1990:10.1084/jem.172.1.335}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Wright 1995: 7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "c.2070delT" "" "Germline" "" "" "0" "" "" "g.44888703del" "" "pathogenic" "" "0000879583" "2" "90" "21" "46308618" "46308618" "del" "0" "04389" "ITGB2_000065" "g.46308618del" "" "{PMID:Sligh 1992:1346132}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.2070delT" "" "Germline" "" "" "0" "" "" "g.44888703del" "" "pathogenic" "" "0000879584" "2" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Hogg 1999:9884339}, {DOI:Hogg 1999:10.1172/JCI3312}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879585" "10" "90" "21" "0" "0" "" "0" "04389" "CSTB_000023" "g.?" "" "{PMID:Back 1992:1347532}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "RNA del ex13" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000879586" "1" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Arnaout 1990:1968911}, {DOI:Arnaout 1990:10.1172/JCI114529}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "r.1777c>u" "" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879587" "2" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Mathew 2000:10886250}, {DOI:Mathew 20000:10.1046/j.1365-2249.2000.01277.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879588" "2" "90" "21" "46309300" "46309300" "subst" "0" "04389" "ITGB2_000088" "g.46309300A>G" "" "{PMID:Shaw 2001:11703376}, {DOI:Shaw 2001:10.1046/j.1365-2249.2001.01661.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "" "" "Germline" "" "" "0" "" "" "g.44889385A>G" "" "pathogenic" "" "0000879589" "2" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879590" "2" "90" "21" "46306698" "46306698" "subst" "4.06081E-6" "04389" "ITGB2_000058" "g.46306698C>A" "" "{PMID:Hixson 2004:14512306}, {DOI:Hixson 2004 :10.1182/blood-2003-08-2780}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44886783C>A" "" "pathogenic" "" "0000879591" "2" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879592" "2" "90" "21" "46308770" "46308770" "del" "0" "04389" "ITGB2_000067" "g.46308770del" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1920delG" "" "Germline" "" "" "0" "" "" "g.44888855del" "" "pathogenic" "" "0000879593" "2" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879594" "2" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Fathallah 2001:12488604}, {DOI:Fathallah 2001:10.1155/S1110724301000250}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879595" "2" "90" "21" "46308618" "46308618" "del" "0" "04389" "ITGB2_000065" "g.46308618del" "" "{PMID:Uzel 2008:17875809}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.2070delT" "" "Germline" "" "" "0" "" "" "g.44888703del" "" "pathogenic" "" "0000879596" "2" "90" "21" "46321550" "46321550" "del" "0" "04389" "ITGB2_000178" "g.46321550del" "" "{PMID:Tone 2007:17244687}, {DOI:Tone 2007:10.1182/blood-2007-08-039057}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.602delC" "" "Germline" "" "" "0" "" "" "g.44901635del" "" "pathogenic" "" "0000879597" "2" "90" "21" "46320377" "46320377" "subst" "0" "04389" "ITGB2_000162" "g.46320377C>T" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900462C>T" "" "pathogenic" "" "0000879598" "2" "90" "21" "46321586" "46321586" "subst" "3.25113E-5" "04389" "ITGB2_000181" "g.46321586G>A" "" "CLB unpunl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Lorusso 2006: 16595236}, {DOI:Lorusso 2006:10.1016/j.fertnstert.2005.03.092}" "" "" "" "Germline" "" "" "0" "" "" "g.44901671G>A" "" "pathogenic" "" "0000879599" "2" "90" "21" "46308608" "46308608" "del" "0" "04389" "ITGB2_000063" "g.46308608del" "" "{PMID:Vahlquist 2015:24995649}, {DOI:Vahlquist 2015:10.2340/00015555-1929}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.2080+1delG" "" "Germline" "" "" "0" "" "" "g.44888693del" "" "pathogenic" "" "0000879600" "2" "90" "21" "46319070" "46319070" "subst" "4.06974E-6" "04389" "ITGB2_000142" "g.46319070G>A" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44899155G>A" "" "pathogenic" "" "0000879601" "2" "90" "21" "46305868" "46340965" "del" "0" "04389" "ITGB2_000056" "g.(?_46305868)_(46340965_?)del" "" "Castriconi 2007, Fiorini 2002, De Rose 2018, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "del whole gene" "" "Germline" "" "" "0" "" "" "g.(?_44885953)_(44921050_?)del" "" "pathogenic" "" "0000879602" "2" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879603" "2" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879604" "2" "90" "21" "46309412" "46309412" "subst" "0" "04389" "ITGB2_000092" "g.46309412T>C" "" "GeneDx unpubl., {PMID:Guan 2015:25514840}, {DOI:Guan 2015:10.1016/j.bcmd.2014.11.005}" "" "" "" "Germline" "" "" "0" "" "" "g.44889497T>C" "" "pathogenic" "" "0000879605" "2" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879606" "2" "90" "21" "46326959" "46326959" "subst" "4.06501E-6" "04389" "ITGB2_000216" "g.46326959G>A" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44907044G>A" "" "pathogenic" "" "0000879607" "2" "90" "21" "46308618" "46308618" "del" "0" "04389" "ITGB2_000065" "g.46308618del" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.2070delT" "" "Germline" "" "" "0" "" "" "g.44888703del" "" "pathogenic" "" "0000879608" "2" "90" "21" "46314967" "46314976" "del" "0" "04389" "ITGB2_000132" "g.46314967_46314976del" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.995_1004del10" "" "Germline" "" "" "0" "" "" "g.44895052_44895061del" "" "pathogenic" "" "0000879609" "2" "90" "21" "46309948" "46309948" "subst" "1.62562E-5" "04389" "ITGB2_000099" "g.46309948G>T" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44890033G>T" "" "pathogenic" "" "0000879610" "2" "90" "21" "46305868" "46340965" "del" "0" "04389" "ITGB2_000056" "g.(?_46305868)_(46340965_?)del" "" "GeneDx unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "del whole gene" "" "Germline" "" "" "0" "" "" "g.(?_44885953)_(44921050_?)del" "" "pathogenic" "" "0000879611" "2" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Uzel 2010, Abs P256:20136937}, {DOI:Uzel 2010, Abs P256:10.1111/j.1365-2362.2009.02244.x}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879612" "2" "90" "21" "46314881" "46314881" "subst" "0" "04389" "ITGB2_000120" "g.46314881C>G" "" "Fischer unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44894966C>G" "" "pathogenic" "" "0000879613" "21" "90" "21" "46330297" "46330297" "subst" "0" "04389" "ITGB2_000232" "g.46330297G>T" "" "{PMID:Cher 2011:21195692}, {DOI:Cher 2011:10.1016/j.bbrc.2010.12.124}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44910382G>T" "" "pathogenic" "" "0000879614" "2" "90" "21" "46308618" "46308618" "del" "0" "04389" "ITGB2_000065" "g.46308618del" "" "Klein unpubl., , {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.2070delT" "" "Germline" "" "" "0" "" "" "g.44888703del" "" "pathogenic" "" "0000879615" "2" "90" "21" "46313401" "46313401" "del" "0" "04389" "ITGB2_000118" "g.46313401del" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "c.1143delC" "" "Germline" "" "" "0" "" "" "g.44893486del" "" "pathogenic" "" "0000879616" "2" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "CLB unpubl., {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879617" "2" "90" "21" "46320234" "46320234" "subst" "0" "04389" "ITGB2_000146" "g.46320234C>G" "" "{PMID:Madkaikar 2015:25703682}, {DOI:Madkaikar 2015:10.1016/j.bcmd.2015.01.012}" "" "IVS7+1G>C" "" "Germline" "" "" "0" "" "" "g.44900319C>G" "" "pathogenic" "" "0000879618" "2" "90" "21" "46307769" "46310286" "delins" "0" "04389" "ITGB2_000062" "g.46307769_46310286delinsTTTT" "" "Jafari unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.1413-149_2080+839del2518insAAAA" "" "Germline" "" "" "0" "" "" "g.44887854_44890371delinsTTTT" "" "pathogenic" "" "0000879619" "2" "90" "21" "46320252" "46320252" "subst" "0" "04389" "ITGB2_000148" "g.46320252T>A" "" "{PMID:De Rose 2018:29548898}, {DOI:De Rose 2018:10.1016/j.clim.2018.03.005}" "" "G819A (K294*)" "" "Germline" "" "" "0" "" "" "g.44900337T>A" "" "pathogenic" "" "0000879620" "2" "90" "21" "46309266" "46309266" "subst" "0" "04389" "ITGB2_000083" "g.46309266C>A" "" "{PMID:Lin 2018:30078245}, {DOI:Lin 2018:10.3760/cma.j.issn.0578-1310.2018.08.012}, {PMID:Hu 2018:30041527}" "" "" "" "Germline" "" "" "0" "" "" "g.44889351C>A" "" "pathogenic" "" "0000879621" "2" "90" "21" "46330638" "46330657" "dup" "0" "04389" "ITGB2_000234" "g.46330638_46330657dup" "" "{PMID:Kurosawa 2018:28538512}, {DOI:Kurosawa 2018:10.1097/MPH.0000000000000853}" "" "c.41_58+2dup20" "" "Germline" "" "" "0" "" "" "g.44910723_44910742dup" "" "pathogenic" "" "0000879622" "2" "90" "21" "46330253" "46330266" "del" "0" "04389" "ITGB2_000227" "g.46330253_46330266del" "" "{PMID:Kwon 2020:32009323}, {DOI:Kwon 2020:10.4168/aair.2020.12.2.292}" "" "c.82_95del14" "" "Germline" "" "" "0" "" "" "g.44910338_44910351del" "" "pathogenic" "" "0000879623" "21" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879624" "21" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879625" "21" "90" "21" "46305868" "46340965" "del" "0" "04389" "ITGB2_000056" "g.(?_46305868)_(46340965_?)del" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "del whole gene" "" "Germline" "" "" "0" "" "" "g.(?_44885953)_(44921050_?)del" "" "pathogenic" "" "0000879626" "11" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Sun 2019/Qian 2020:30919141}, {DOI:Sun 2019/Qian 2020:10.1007/s10875-019-00617-4}, {PMID:Qian 2020:32154133}, {DOI:Qian 2020:10.21037/tp.2020.01.06}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879627" "21" "90" "21" "46320234" "46320234" "subst" "2.03307E-5" "04389" "ITGB2_000144" "g.46320234C>T" "" "{PMID:Sun 2019:30919141}, {DOI:Sun 2019:10.1007/s10875-019-00617-4}" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.44900319C>T" "" "pathogenic" "" "0000879628" "21" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "{PMID:Sun 2019:30919141}, {DOI:Sun 2019:10.1007/s10875-019-00617-4}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879629" "2" "90" "21" "46321442" "46321442" "subst" "4.06471E-6" "04389" "ITGB2_000174" "g.46321442C>T" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44901527C>T" "" "pathogenic" "" "0000879630" "2" "90" "21" "46320234" "46320234" "subst" "0" "04389" "ITGB2_000145" "g.46320234C>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "IVS7+1G>T" "" "Germline" "" "" "0" "" "" "g.44900319C>A" "" "pathogenic" "" "0000879631" "2" "10" "21" "46314907" "46314907" "subst" "0.999935" "04389" "ITGB2_000007" "g.46314907T>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44894992=" "" "benign" "" "0000879632" "2" "90" "21" "46309291" "46309291" "subst" "1.22903E-5" "04389" "ITGB2_000087" "g.46309291G>A" "" "{PMID:Yaz 2021:34310689}, {DOI:Yaz 2021:10.1111/cei.13645}" "" "" "" "Germline" "" "" "0" "" "" "g.44889376G>A" "" "pathogenic" "" "0000879633" "2" "90" "21" "46309240" "46309240" "subst" "0" "04389" "ITGB2_000080" "g.46309240G>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44889325G>T" "" "pathogenic" "" "0000879634" "2" "90" "21" "46320234" "46320234" "subst" "0" "04389" "ITGB2_000146" "g.46320234C>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900319C>G" "" "pathogenic" "" "0000879635" "2" "90" "21" "46311872" "46311872" "subst" "0" "04389" "ITGB2_000114" "g.46311872G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "1264C>T;850G>A" "" "Germline" "" "" "0" "" "" "g.44891957G>A" "" "pathogenic" "" "0000879636" "2" "90" "21" "46308812" "46308812" "subst" "0" "04389" "ITGB2_000072" "g.46308812T>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44888897T>G" "" "pathogenic" "" "0000879637" "2" "90" "21" "46309412" "46309412" "subst" "0" "04389" "ITGB2_000092" "g.46309412T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44889497T>C" "" "pathogenic" "" "0000879638" "2" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879639" "2" "90" "21" "46311853" "46311853" "subst" "4.06884E-6" "04389" "ITGB2_000112" "g.46311853A>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44891938A>C" "" "pathogenic" "" "0000879640" "2" "90" "21" "46320391" "46320391" "subst" "0" "04389" "ITGB2_000165" "g.46320391C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900476C>T" "" "pathogenic" "" "0000879641" "2" "90" "21" "46306751" "46306751" "subst" "0" "04389" "ITGB2_000060" "g.46306751C>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44886836C>A" "" "pathogenic" "" "0000879642" "2" "90" "21" "46321615" "46321615" "subst" "1.63082E-5" "04389" "ITGB2_000183" "g.46321615G>A" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44901700G>A" "" "pathogenic" "" "0000879643" "2" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879644" "2" "90" "21" "46320376" "46320376" "subst" "0" "04389" "ITGB2_000161" "g.46320376C>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "" "" "Germline" "" "" "0" "" "" "g.44900461C>G" "" "pathogenic" "" "0000879645" "2" "90" "21" "46319033" "46319036" "dup" "0" "04389" "ITGB2_000139" "g.46319033_46319036dup" "" "Kambli/Mad unpubl. , {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.941_944dupACAA?" "" "Germline" "" "" "0" "" "" "g.44899118_44899121dup" "" "pathogenic" "" "0000879646" "2" "90" "21" "46330288" "46330288" "subst" "0" "04389" "ITGB2_000231" "g.46330288C>T" "" "Kanegane unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "IVS2-1G>A" "" "Germline" "" "" "0" "" "" "g.44910373C>T" "" "pathogenic" "" "0000879647" "2" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879648" "2" "90" "21" "46326836" "46326836" "subst" "0" "04389" "ITGB2_000210" "g.46326836G>A" "" "Schwarz unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44906921G>A" "" "pathogenic" "" "0000879649" "2" "90" "21" "46340735" "46340965" "del" "0" "04389" "ITGB2_000241" "g.(46330701_46340735)_(46340965_?)del" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "del ex1" "" "Germline" "" "" "0" "" "" "g.(44910786_44920820)_(44921050_?)del" "" "pathogenic" "" "0000879650" "2" "90" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "pathogenic" "" "0000879651" "2" "90" "21" "46309923" "46309923" "subst" "8.13359E-6" "04389" "ITGB2_000096" "g.46309923G>A" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44890008G>A" "" "pathogenic" "" "0000879652" "2" "90" "21" "46309373" "46309373" "del" "0" "04389" "ITGB2_000089" "g.46309373del" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "c.1697delC" "" "Germline" "" "" "0" "" "" "g.44889458del" "" "pathogenic" "" "0000879653" "2" "90" "21" "46320323" "46320323" "subst" "2.03103E-5" "04389" "ITGB2_000156" "g.46320323G>A" "" "Holland unpubl., {PMID:Roos 2023:336696755}, {DOI:Roos 2023:10.1016/j.bcmd.2023.102726}" "" "" "" "Germline" "" "" "0" "" "" "g.44900408G>A" "" "pathogenic" "" "0000879654" "2" "90" "21" "46320315" "46320315" "subst" "1.62481E-5" "04389" "ITGB2_000040" "g.46320315C>T" "" "{PMID:Wang 2020:31965297}, {DOI:Wang 2020:10.1007/s00439-019-02103-8}" "" "" "" "Germline" "" "" "0" "" "" "g.44900400C>T" "" "pathogenic" "" "0000879655" "3" "10" "21" "46314907" "46314907" "subst" "0.999935" "04389" "ITGB2_000007" "g.46314907T>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019}" "" "1030G>T;1062A>T" "" "Germline" "" "" "0" "" "" "g.44894992=" "" "benign" "" "0000879656" "2" "50" "21" "46320282" "46320282" "subst" "4.06243E-5" "04389" "ITGB2_000052" "g.46320282C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "1264C>T;850G>A" "" "Germline" "" "" "0" "" "" "g.44900367C>T" "" "VUS" "" "0000879657" "0" "10" "21" "46321677" "46321677" "subst" "0.17176" "04389" "ITGB2_000189" "g.46321677G>A" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "" "" "Germline" "" "" "0" "" "" "g.44901762G>A" "" "benign" "" "0000879658" "3" "10" "21" "46314907" "46314907" "subst" "0.999935" "04389" "ITGB2_000007" "g.46314907T>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44894992=" "" "benign" "" "0000879659" "3" "90" "21" "46320374" "46320374" "subst" "0.000191293" "04389" "ITGB2_000160" "g.46320374C>T" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "322C>T;758G>A" "" "Germline" "" "" "0" "" "" "g.44900459C>T" "" "pathogenic" "" "0000879660" "3" "10" "21" "46314907" "46314907" "subst" "0.999935" "04389" "ITGB2_000007" "g.46314907T>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "" "" "Germline" "" "" "0" "" "" "g.44894992=" "" "benign" "" "0000879661" "1" "90" "21" "46309412" "46309412" "subst" "0" "04389" "ITGB2_000092" "g.46309412T>C" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "751G>A;1658-2A>G" "" "Germline" "" "" "0" "" "" "g.44889497T>C" "" "pathogenic" "" "0000879662" "1" "90" "21" "46308812" "46308812" "subst" "0" "04389" "ITGB2_000072" "g.46308812T>G" "" "{PMID:Kambli 2020:33391282}, {DOI:Kambli 2020:10.3389/fimmu.2020.612703}" "" "751G>A;1878-2A>C" "" "Germline" "" "" "0" "" "" "g.44888897T>G" "" "pathogenic" "" "0000879663" "1" "90" "21" "46314907" "46314907" "subst" "0.999935" "04389" "ITGB2_000007" "g.46314907T>A" "" "{PMID:Yassaee 2016:26639818}, {DOI:Yassaee 2016:10.1016/j.humimm.2015.11.019 }" "" "843delC;1062A>T" "" "Germline" "" "" "0" "" "" "g.44894992=" "" "pathogenic" "" "0000879664" "3" "90" "21" "46320312" "46320312" "dup" "0" "04389" "ITGB2_000154" "g.46320312dup" "" "{PMID:Platt 2021:32888943}, {DOI:Platt 2021:10.1016/j.jaci.2020.08.022}" "" "850G>A;821dupA" "" "Germline" "" "" "0" "" "" "g.44900397dup" "" "pathogenic" "" "0000879665" "0" "10" "21" "46326996" "46326996" "subst" "0.0016913" "04389" "ITGB2_000013" "g.46326996C>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44907081C>T" "" "benign" "" "0000879666" "0" "10" "21" "46320313" "46320313" "subst" "0.246766" "04389" "ITGB2_000010" "g.46320313C>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900398C>T" "" "benign" "" "0000879667" "3" "10" "21" "46320313" "46320313" "subst" "0.246766" "04389" "ITGB2_000010" "g.46320313C>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900398C>T" "" "benign" "" "0000879668" "3" "10" "21" "46311813" "46311813" "subst" "0.679584" "04389" "ITGB2_000005" "g.46311813A>G" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44891898A>G" "" "benign" "" "0000879669" "3" "10" "21" "46330674" "46330674" "subst" "0.211294" "04389" "ITGB2_000087" "g.46330674C>A" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44910759C>A" "" "benign" "" "0000879670" "3" "10" "21" "46320313" "46320313" "subst" "0.246766" "04389" "ITGB2_000010" "g.46320313C>T" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44900398C>T" "" "benign" "" "0000879671" "3" "10" "21" "46311813" "46311813" "subst" "0.679584" "04389" "ITGB2_000005" "g.46311813A>G" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44891898A>G" "" "benign" "" "0000879672" "0" "10" "21" "46330674" "46330674" "subst" "0.211294" "04389" "ITGB2_000087" "g.46330674C>A" "" "{PMID:Arnaout 1990:1968911}, {DOI:Arnaout 1990:10.1172/JCI114529}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "r.24g>u" "" "Germline" "" "" "0" "" "" "g.44910759C>A" "" "benign" "" "0000879673" "21" "50" "21" "46309312" "46309312" "subst" "0.00881088" "04389" "ITGB2_000036" "g.46309312G>A" "" "{PMID:Nelson 1992:1346613}, {PMID:Uzel 2008:28328327}, {DOI:Uzel 2008:10.1182/blood-2007-04-082552}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}" "" "" "" "Germline" "" "" "0" "" "" "g.44889397G>A" "" "VUS" "" "0000879674" "2" "90" "21" "46330284" "46330285" "del" "0" "04389" "ITGB2_000230" "g.46330284_46330285del" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "66_67delTC" "" "Germline" "" "" "0" "" "" "g.44910369_44910370del" "" "pathogenic" "" "0000879675" "2" "90" "21" "46330284" "46330285" "del" "0" "04389" "ITGB2_000230" "g.46330284_46330285del" "" "{PMID:Wright 1995:7705401}, {DOI:Wright 1995:10.1002/eji.1830250313}, {PMID:Van De Vijver 2012:22134107}, {DOI:Van De Vijver:10.1016/j.bcmd.2011.10.004}, {PMID:Roos 2002:11882363}, {DOI:Roos 2002:10.1016/s0301-472x(01)00782-2}" "" "67_67delTC" "" "Germline" "" "" "0" "" "" "g.44910369_44910370del" "" "pathogenic" "" "0000895515" "0" "10" "21" "46314967" "46314967" "subst" "0.00274421" "02326" "ITGB2_000020" "g.46314967G>A" "" "" "" "ITGB2(NM_000211.3):c.1002C>T (p.T334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895516" "0" "10" "21" "46320313" "46320313" "subst" "0.246766" "02327" "ITGB2_000010" "g.46320313C>T" "" "" "" "ITGB2(NM_000211.5):c.819G>A (p.G273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895517" "0" "10" "21" "46326815" "46326815" "subst" "0.156802" "02327" "ITGB2_000208" "g.46326815C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895518" "0" "10" "21" "46327026" "46327026" "subst" "0.0688207" "02327" "ITGB2_000243" "g.46327026C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895519" "0" "10" "21" "46330674" "46330674" "subst" "0.211294" "02327" "ITGB2_000087" "g.46330674C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895520" "0" "30" "21" "46330685" "46330685" "subst" "3.69007E-5" "02326" "ITGB2_000244" "g.46330685G>T" "" "" "" "ITGB2(NM_000211.3):c.13C>A (p.R5S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915463" "0" "30" "21" "46310008" "46310008" "subst" "0.00201592" "02326" "ITGB2_000101" "g.46310008G>A" "" "" "" "ITGB2(NM_000211.3):c.1542C>T (p.C514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915464" "0" "10" "21" "46313442" "46313442" "subst" "0.224489" "02327" "ITGB2_000006" "g.46313442G>T" "" "" "" "ITGB2(NM_000211.5):c.1101C>A (p.V367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915465" "0" "10" "21" "46321659" "46321659" "subst" "0.158892" "02327" "ITGB2_000187" "g.46321659C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927092" "0" "30" "21" "46311846" "46311846" "subst" "4.88373E-5" "02326" "ITGB2_000245" "g.46311846C>T" "" "" "" "ITGB2(NM_000211.3):c.1290G>A (p.A430=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927093" "0" "30" "21" "46321388" "46321388" "subst" "0.00152653" "02326" "ITGB2_000246" "g.46321388G>A" "" "" "" "ITGB2(NM_000211.3):c.741+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927094" "0" "30" "21" "46321394" "46321394" "del" "0" "02326" "ITGB2_000247" "g.46321394del" "" "" "" "ITGB2(NM_000211.3):c.741+16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927095" "0" "30" "21" "46321644" "46321644" "subst" "0.000119152" "02326" "ITGB2_000248" "g.46321644G>A" "" "" "" "ITGB2(NM_000211.3):c.504C>T (p.F168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927096" "0" "30" "21" "46330302" "46330302" "subst" "0.00333453" "02326" "ITGB2_000249" "g.46330302C>T" "" "" "" "ITGB2(NM_000211.3):c.59-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927097" "0" "30" "21" "46330647" "46330647" "subst" "2.85332E-5" "02326" "ITGB2_000250" "g.46330647G>A" "" "" "" "ITGB2(NM_000211.3):c.51C>T (p.L17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931228" "0" "30" "21" "46308719" "46308719" "subst" "6.53937E-5" "02326" "ITGB2_000038" "g.46308719C>T" "" "" "" "ITGB2(NM_000211.3):c.1969G>A (p.V657M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931229" "0" "30" "21" "46309885" "46309885" "subst" "0.000147065" "02326" "ITGB2_000251" "g.46309885G>A" "" "" "" "ITGB2(NM_000211.3):c.1657+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931230" "0" "30" "21" "46319066" "46319066" "subst" "8.1355E-6" "02326" "ITGB2_000252" "g.46319066C>T" "" "" "" "ITGB2(NM_000211.3):c.909G>A (p.S303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951518" "0" "30" "21" "46309220" "46309220" "subst" "6.56405E-5" "02326" "ITGB2_000253" "g.46309220G>A" "" "" "" "ITGB2(NM_000211.3):c.1848C>T (p.P616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984019" "0" "90" "21" "46323397" "46323397" "subst" "0" "02329" "ITGB2_000204" "g.46323397C>A" "" "" "" "ITGB2(NM_000211.3):c.382G>T (p.D128Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005795" "0" "70" "21" "46321660" "46321660" "subst" "8.27568E-6" "02327" "ITGB2_000188" "g.46321660A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 ITGB2 ## Count = 651 "{{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}}" "0000006027" "00001177" "50" "-3" "-4701" "-3" "-4701" "c.-3-4701G>A" "r.(=)" "p.(=)" "" "0000248728" "00001177" "10" "1323" "0" "1323" "0" "c.1323T>C" "r.(?)" "p.(Val441=)" "" "0000281585" "00001177" "10" "1062" "0" "1062" "0" "c.1062A>T" "r.(?)" "p.(Gln354His)" "" "0000281586" "00001177" "10" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Val367=)" "" "0000281587" "00001177" "10" "148" "-1089" "148" "-1089" "c.148-1089A>G" "r.(=)" "p.(=)" "" "0000281588" "00001177" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Gly273=)" "" "0000285394" "00001177" "30" "1658" "-19" "1658" "-19" "c.1658-19G>A" "r.(=)" "p.(=)" "" "0000285395" "00001177" "30" "329" "-6" "329" "-6" "c.329-6C>T" "r.(=)" "p.(=)" "" "0000285396" "00001177" "30" "591" "0" "591" "0" "c.591G>C" "r.(?)" "p.(Glu197Asp)" "" "0000285397" "00001177" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Gly276=)" "" "0000289764" "00001177" "30" "1413" "-8" "1413" "-8" "c.1413-8G>A" "r.(=)" "p.(=)" "" "0000289765" "00001177" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Pro54=)" "" "0000289766" "00001177" "10" "2058" "0" "2058" "0" "c.2058C>G" "r.(?)" "p.(Leu686=)" "" "0000289767" "00001177" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000338141" "00001177" "90" "994" "-1" "994" "-1" "c.994-1G>A" "r.spl?" "p.?" "" "0000338142" "00001177" "10" "-111" "0" "-111" "0" "c.-111T>C" "r.(?)" "p.(=)" "" "0000340123" "00001177" "10" "1323" "0" "1323" "0" "c.1323T>C" "r.(?)" "p.(Val441=)" "" "0000344787" "00001177" "10" "1062" "0" "1062" "0" "c.1062A>T" "r.(?)" "p.(Gln354His)" "" "0000405144" "00001177" "00" "1323" "0" "1323" "0" "c.1323T>G" "r.(=)" "p.(=)" "" "0000498908" "00001177" "90" "1037" "0" "1044" "0" "c.1037_1044delinsT" "r.(?)" "p.(Ser346Phefs*31)" "9" "0000570833" "00001177" "30" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Glu630Lys)" "" "0000570834" "00001177" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asn545=)" "" "0000570835" "00001177" "10" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Thr334=)" "" "0000570836" "00001177" "30" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Ala244=)" "" "0000570837" "00001177" "50" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Pro201Leu)" "" "0000570838" "00001177" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Thr175=)" "" "0000570839" "00001177" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000570840" "00001177" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Pro54=)" "" "0000570841" "00001177" "30" "147" "9" "147" "9" "c.147+9C>T" "r.(=)" "p.(=)" "" "0000570842" "00001177" "30" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Ser31Asn)" "" "0000570843" "00001177" "30" "58" "9" "58" "9" "c.58+9T>C" "r.(=)" "p.(=)" "" "0000570844" "00001177" "30" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Leu11=)" "" "0000618397" "00001177" "30" "2172" "0" "2172" "0" "c.2172G>A" "r.(?)" "p.(Lys724=)" "" "0000618398" "00001177" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asn545=)" "" "0000618399" "00001177" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Arg448=)" "" "0000618400" "00001177" "50" "757" "0" "757" "0" "c.757C>A" "r.(?)" "p.(Arg253Ser)" "" "0000618401" "00001177" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Thr182=)" "" "0000618402" "00001177" "30" "147" "5" "147" "5" "c.147+5G>A" "r.spl?" "p.?" "" "0000624230" "00001177" "50" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684Cys)" "" "0000624231" "00001177" "30" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Ser453Asn)" "" "0000650881" "00001177" "30" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000658849" "00001177" "30" "2280" "0" "2280" "0" "c.2280G>A" "r.(?)" "p.(Thr760=)" "" "0000658850" "00001177" "30" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Val657Met)" "" "0000658851" "00001177" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Asp76=)" "" "0000673560" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "" "0000681740" "00001177" "10" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000681741" "00001177" "50" "1600" "0" "1600" "0" "c.1600T>C" "r.(?)" "p.(Cys534Arg)" "" "0000693068" "00001177" "50" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" "" "0000727944" "00001177" "10" "58" "12" "58" "12" "c.58+12G>A" "r.(=)" "p.(=)" "" "0000734664" "00001177" "50" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Arg165Cys)" "" "0000735437" "00001177" "50" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000809419" "00001177" "30" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Val600Ile)" "" "0000855984" "00001177" "30" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000855985" "00001177" "50" "591" "0" "591" "0" "c.591G>C" "r.(?)" "p.(Glu197Asp)" "" "0000855986" "00001177" "30" "499" "17" "499" "17" "c.499+17G>A" "r.(=)" "p.(=)" "" "0000866653" "00001177" "90" "1146" "0" "1146" "0" "c.1146C>A" "r.(?)" "p.(Tyr382*)" "" "0000866654" "00001177" "30" "147" "9" "147" "9" "c.147+9C>T" "r.(=)" "p.(=)" "" "0000879097" "00001177" "70" "2455" "0" "2455" "0" "c.*145=" "r.(?)" "p.(?)" "16" "0000879098" "00001177" "70" "2455" "0" "2455" "0" "c.*145C>A" "r.(=)" "p.(=)" "16" "0000879099" "00001177" "30" "-111" "0" "-111" "0" "c.-111T>C" "r.(?)" "p.(=)" "1" "0000879100" "00001177" "30" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ser39=)" "3" "0000879101" "00001177" "30" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Val367=)" "10" "0000879102" "00001177" "30" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Gly273=)" "7" "0000879103" "00001177" "30" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "0000879104" "00001177" "90" "2455" "0" "2455" "0" "c.*145C>A" "r.(?)" "p.(?)" "16" "0000879105" "00001177" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Gly273=)" "7" "0000879106" "00001177" "10" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Val367=)" "10" "0000879107" "00001177" "10" "-111" "0" "-111" "0" "c.-111T>C" "r.(?)" "p.(=)" "1" "0000879108" "00001177" "10" "-403" "0" "-403" "0" "c.-403C>T" "r.(?)" "p.(?)" "_1" "0000879109" "00001177" "10" "24" "0" "24" "0" "c.24G>T" "r.(?)" "p.(Leu8=)" "2" "0000879110" "00001177" "10" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Pro54=)" "4" "0000879111" "00001177" "10" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Asp77Asn)" "4" "0000879112" "00001177" "10" "328" "15" "328" "15" "c.328+15G>A" "r.(?)" "p.?" "4i" "0000879113" "00001177" "10" "499" "7" "499" "7" "c.499+7C>T" "r.(?)" "p.?" "5i" "0000879114" "00001177" "10" "500" "-29" "500" "-29" "c.500-29C>T" "r.(?)" "p.?" "5i" "0000879115" "00001177" "10" "500" "-11" "500" "-11" "c.500-11G>T" "r.(?)" "p.?" "5i" "0000879116" "00001177" "10" "742" "-13" "742" "-13" "c.742-13G>A" "r.(?)" "p.?" "6i" "0000879117" "00001177" "10" "994" "-47" "994" "-47" "c.994-47G>A" "r.(?)" "p.?" "8i" "0000879118" "00001177" "10" "1323" "0" "1323" "0" "c.1323T>C" "r.(?)" "p.(Val441=)" "11" "0000879119" "00001177" "10" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "13" "0000879120" "00001177" "10" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Arg5Cys)" "2" "0000879121" "00001177" "10" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Ala10Thr)" "2" "0000879122" "00001177" "10" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Leu11=)" "2" "0000879123" "00001177" "10" "117" "0" "117" "0" "c.117G>A" "r.(?)" "p.(Ser39=)" "3" "0000879124" "00001177" "10" "147" "16" "147" "16" "c.147+16A>G" "r.(?)" "p.?" "3i" "0000879125" "00001177" "10" "329" "-6" "329" "-6" "c.329-6C>T" "r.(?)" "p.?" "4i" "0000879126" "00001177" "10" "587" "0" "587" "0" "c.587A>C" "r.(?)" "p.(Lys196Thr)" "6" "0000879127" "00001177" "10" "732" "0" "732" "0" "c.732C>T" "r.(?)" "p.(Ala244=)" "6" "0000879128" "00001177" "10" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Phe269=)" "7" "0000879129" "00001177" "10" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(Ala270=)" "7" "0000879130" "00001177" "10" "906" "0" "906" "0" "c.906A>G" "r.(?)" "p.(Pro302=)" "8" "0000879131" "00001177" "10" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Thr334=)" "9" "0000879132" "00001177" "10" "1026" "0" "1026" "0" "c.1026G>C" "r.(?)" "p.(Val342=)" "9" "0000879133" "00001177" "10" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Thr391Met)" "10" "0000879134" "00001177" "10" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Lys499=)" "12" "0000879135" "00001177" "10" "1542" "0" "1542" "0" "c.1542C>T" "r.(?)" "p.(Cys514=)" "12" "0000879136" "00001177" "10" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asn545=)" "12" "0000879137" "00001177" "10" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Glu630Lys)" "14" "0000879138" "00001177" "10" "1893" "0" "1893" "0" "c.1893C>T" "r.(?)" "p.(Cys631=)" "14" "0000879139" "00001177" "10" "2058" "0" "2058" "0" "c.2058C>G" "r.(?)" "p.(Leu686=)" "14" "0000879140" "00001177" "10" "2455" "0" "2455" "0" "c.*145C>A" "r.(?)" "p.(=)" "16" "0000879144" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "" "0000879145" "00001177" "90" "691" "0" "691" "0" "c.691G>C" "r.(?)" "p.(Asp231His)" "" "0000879148" "00001177" "90" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Tyr382ThrfsTer9)" "10" "0000879149" "00001177" "90" "329" "-6" "329" "-6" "c.329-6C>A" "r.(329_499del)" "p.?" "4i" "0000879150" "00001177" "90" "2147" "0" "2147" "0" "c.2147G>C" "r.(?)" "p.(Gly716Ala)" "15" "0000879151" "00001177" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" "6" "0000879152" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879153" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879154" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879155" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879156" "00001177" "90" "843" "0" "843" "0" "c.843del" "r.(?)" "p.(Asn282ThrfsTer41)" "7" "0000879157" "00001177" "90" "1907" "0" "1907" "0" "c.1907del" "r.(?)" "p.(Lys636ArgfsTer22)" "14" "0000879158" "00001177" "90" "1907" "0" "1907" "0" "c.1907del" "r.(?)" "p.(Lys636ArgfsTer22)" "14" "0000879159" "00001177" "90" "" "0" "" "0" "c.-233_*415{0}" "r.0" "p.0" "_1_16_" "0000879160" "00001177" "90" "-3" "-720" "58" "51" "c.-3-720_58+51del" "r.-3_58del" "p.0?" "1i_2i" "0000879161" "00001177" "90" "-3" "-720" "58" "51" "c.-3-720_58+51del" "r.-3_58del" "p.0?" "1i_2i" "0000879162" "00001177" "90" "500" "-12" "500" "-12" "c.500-12T>G" "r.500_648del" "p.Gly167ValfsTer47" "5i" "0000879163" "00001177" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67Ter)" "4" "0000879164" "00001177" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67Ter)" "4" "0000879165" "00001177" "90" "754" "0" "754" "0" "c.754T>C" "r.(?)" "p.(Trp252Arg)" "7" "0000879166" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Cys)" "13" "0000879167" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Cys)" "13" "0000879168" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Cys)" "13" "0000879169" "00001177" "90" "742" "-14" "742" "-14" "c.742-14C>A" "r.741_742ins742-12_742-1" "p.Pro247_Glu248insProSerSerGln" "6i" "0000879170" "00001177" "90" "742" "-14" "742" "-14" "c.742-14C>A" "r.741_742ins742-12_742-1" "p.Pro247_Glu248insProSerSerGln" "6i" "0000879171" "00001177" "90" "742" "-14" "742" "-14" "c.742-14C>A" "r.741_742ins742-12_742-1" "p.Pro247_Glu248insProSerSerGln" "6i" "0000879172" "00001177" "90" "1021" "0" "1021" "0" "c.1021G>C" "r.(?)" "p.(Ala341Pro)" "9" "0000879173" "00001177" "90" "446" "0" "446" "0" "c.446T>C" "r.466u>c" "p.Leu149Pro" "5" "0000879174" "00001177" "90" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "2" "0000879175" "00001177" "90" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Asp690GlufsTer25)" "14" "0000879176" "00001177" "90" "119" "0" "128" "0" "c.119_128del" "r.(?)" "p.(Gly40AlafsTer7)" "3" "0000879177" "00001177" "90" "1602" "0" "1602" "0" "c.1602C>A" "r.(?)" "p.(Cys534Ter)" "12" "0000879178" "00001177" "90" "119" "0" "128" "0" "c.119_128del" "r.(?)" "p.(Gly40AlafsTer7)" "3" "0000879179" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.[897_898ins[a;897+2_897+64],897_898ins[a;897+2_897+298],897_898ins[a;897+2_898-1]]" "p.?" "7i" "0000879180" "00001177" "90" "329" "-37" "461" "0" "c.329-37_461del" "r.spl" "p.?" "4i_5" "0000879181" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.[897_898ins[a;897+2_897+64],897_898ins[a;897+2_897+298],897_898ins[a;897+2_898-1]]" "p.?" "7i" "0000879182" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.[897_898ins[a;897+2_897+64],897_898ins[a;897+2_897+298],897_898ins[a;897+2_898-1]]" "p.?" "7i" "0000879183" "00001177" "90" "382" "0" "382" "0" "c.382G>A" "r.382g>a" "p.Asp128Asn" "5" "0000879184" "00001177" "90" "412" "0" "412" "0" "c.412T>C" "r.(?)" "p.(Ser138Pro)" "5" "0000879185" "00001177" "90" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Gly169Arg)" "6" "0000879186" "00001177" "90" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Gly169Arg)" "6" "0000879187" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879188" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879189" "00001177" "10" "587" "0" "587" "0" "c.587A>C" "r.(?)" "p.Lys196Thr" "6" "0000879190" "00001177" "90" "614" "0" "615" "0" "c.614_615insA" "r.(?)" "p.(His206AlafsTer59)" "6" "0000879191" "00001177" "90" "691" "0" "691" "0" "c.691G>C" "r.(?)" "p.(Asp231His)" "6" "0000879192" "00001177" "90" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ala270Val)" "7" "0000879193" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879194" "00001177" "90" "1083" "3" "1083" "3" "c.1083+3G>C" "r.(994_1080del)" "p.?" "9i" "0000879195" "00001177" "90" "1083" "3" "1083" "3" "c.1083+3G>C" "r.(994_1080del)" "p.?" "9i" "0000879196" "00001177" "90" "1083" "3" "1083" "3" "c.1083+3G>C" "r.(994_1080del)" "p.?" "9i" "0000879197" "00001177" "90" "1083" "3" "1083" "3" "c.1083+3G>C" "r.(994_1080del)" "p.?" "9i" "0000879198" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.850g>a" "p.Gly284Ser" "7" "0000879199" "00001177" "90" "1256" "0" "1257" "0" "c.1256_1257del" "r.1256_1257del" "p.Glu419ValfsTer27" "11" "0000879200" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.850g>a" "p.Gly284Ser" "7" "0000879201" "00001177" "90" "392" "0" "392" "0" "c.392A>C" "r.392a>c" "p.Tyr131Ser" "5" "0000879202" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.850g>a" "p.Gly284Ser" "7" "0000879203" "00001177" "90" "0" "0" "0" "0" "c.?" "r.1622_1657del" "p.Cys541_Gly553delinsTrp" "12i" "0000879204" "00001177" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Asp500ThrfsTer29)" "12" "0000879205" "00001177" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Asp500ThrfsTer29)" "12" "0000879206" "00001177" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Asp500ThrfsTer29)" "12" "0000879207" "00001177" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Asp500ThrfsTer29)" "12" "0000879208" "00001177" "90" "1413" "-1" "1877" "1" "c.(1412+1_1413-1)_(1877+1_1878-1)del" "r.(1413_1877del)" "p.?" "11i_13i" "0000879209" "00001177" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Asp500ThrfsTer29)" "12" "0000879210" "00001177" "90" "1413" "-1" "1877" "1" "c.(1412+1_1413-1)_(1877+1_1878-1)del" "r.(1413_1877del)" "p.?" "11i_13i" "0000879211" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879212" "00001177" "90" "328" "1" "328" "1" "c.328+1G>A" "r.(148_328del)" "p.(Asn50AlafsTer8)" "4i" "0000879213" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879214" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879215" "00001177" "90" "1622" "0" "1622" "0" "c.1622delinsACAGCGCAGTTGTAGCGCAGACC" "r.(?)" "p.(Cys541TyrfsTer9)" "12" "0000879216" "00001177" "90" "1590" "0" "1590" "0" "c.1590C>G" "r.(?)" "p.(Tyr530Ter)" "12" "0000879217" "00001177" "90" "691" "0" "691" "0" "c.691G>C" "r.(?)" "p.(Asp231His)" "6" "0000879218" "00001177" "90" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Asp134Asn)" "5" "0000879219" "00001177" "90" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Ter)" "14" "0000879220" "00001177" "90" "130" "0" "130" "0" "c.130A>C" "r.(?)" "p.(Thr44Pro)" "3" "0000879221" "00001177" "90" "446" "0" "446" "0" "c.446T>C" "r.spl?" "p.(Leu149Pro)" "5" "0000879222" "00001177" "90" "77" "0" "77" "0" "c.77dup" "r.(?)" "p.(Lys27GlufsTer32)" "3" "0000879223" "00001177" "90" "1602" "0" "1602" "0" "c.1602C>A" "r.(?)" "p.(Cys534Ter)" "12" "0000879224" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879225" "00001177" "90" "1057" "0" "1059" "0" "c.1057_1059delinsN[35]" "r.(?)" "p.?" "9" "0000879226" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879227" "00001177" "90" "1057" "0" "1059" "0" "c.1057_1059delinsN[35]" "r.(?)" "p.?" "9" "0000879228" "00001177" "90" "1057" "0" "1059" "0" "c.1057_1059delinsN[35]" "r.(?)" "p.?" "9" "0000879229" "00001177" "90" "0" "0" "0" "0" "c.?" "r.148_328del" "p.Asn50AlafsTer8" "3i_4i" "0000879230" "00001177" "90" "1834" "0" "1834" "0" "c.1834T>C" "r.(?)" "p.(Cys612Arg)" "13" "0000879231" "00001177" "90" "79" "0" "79" "0" "c.79A>T" "r.(?)" "p.(Lys27Ter)" "3" "0000879232" "00001177" "90" "119" "0" "128" "0" "c.119_128del" "r.(?)" "p.(Gly40AlafsTer7)" "3" "0000879233" "00001177" "90" "899" "0" "899" "0" "c.899A>T" "r.(?)" "p.(Asp300Val)" "8" "0000879234" "00001177" "90" "1498" "0" "1498" "0" "c.1498del" "r.(?)" "p.(Asp500ThrfsTer29)" "12" "0000879235" "00001177" "90" "1388" "0" "1390" "0" "c.1388_1390delinsCA" "r.(?)" "p.(Gly463AlafsTer66)" "11" "0000879236" "00001177" "90" "130" "0" "130" "0" "c.130A>C" "r.(?)" "p.(Thr44Pro)" "3" "0000879237" "00001177" "90" "186" "0" "186" "0" "c.186C>A" "r.(?)" "p.(Cys62Ter)" "4" "0000879238" "00001177" "90" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ala270Val)" "7" "0000879239" "00001177" "90" "184" "0" "184" "0" "c.184T>C" "r.(?)" "p.(Cys62Arg)" "4" "0000879240" "00001177" "90" "314" "0" "314" "0" "c.314T>C" "r.(?)" "p.(Leu105Pro)" "4" "0000879241" "00001177" "90" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Asp238Asn)" "6" "0000879242" "00001177" "90" "79" "0" "79" "0" "c.79A>T" "r.(?)" "p.(Lys27Ter)" "3" "0000879243" "00001177" "90" "1421" "0" "1421" "0" "c.1421del" "r.(?)" "p.(Thr474MetfsTer55)" "12" "0000879244" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879245" "00001177" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "5" "0000879246" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879247" "00001177" "90" "1083" "3" "1083" "3" "c.1083+3G>C" "r.(994_1080del)" "p.?" "9i" "0000879248" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879249" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879250" "00001177" "90" "106" "0" "106" "0" "c.106T>A" "r.(?)" "p.(Cys36Ser)" "3" "0000879251" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879252" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879253" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879254" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879255" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879256" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879257" "00001177" "90" "119" "0" "128" "0" "c.119_128del" "r.(?)" "p.(Gly40AlafsTer7)" "3" "0000879258" "00001177" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Gly150Asp)" "5" "0000879259" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879260" "00001177" "90" "846" "0" "846" "0" "c.846C>A" "r.(?)" "p.(Asn282Lys)" "7" "0000879261" "00001177" "90" "49" "0" "49" "0" "c.49del" "r.(?)" "p.(Leu17SerfsTer33)" "2" "0000879262" "00001177" "90" "520" "0" "520" "0" "c.520A>G" "r.(?)" "p.(Lys174Glu)" "6" "0000879263" "00001177" "90" "" "0" "" "0" "c.1413-416_*415{0}" "r.1413_∗412delins[NM_004339.2:r.169_∗1984] (Arg472fsSer*28)" "p.?" "11i_16_" "0000879264" "00001177" "90" "268" "0" "268" "0" "c.268del" "r.(?)" "p.(Asp90ThrfsTer14)" "4" "0000879265" "00001177" "90" "120" "0" "120" "0" "c.120del" "r.(?)" "p.(Gly42AlafsTer8)" "3" "0000879266" "00001177" "90" "1413" "-149" "2080" "839" "c.1413-149_2080+839delinsAAAA" "r.1413_2080del" "p.Cys472ValfsTer45" "11i_14i" "0000879267" "00001177" "90" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Tyr382ThrfsTer9)" "10" "0000879268" "00001177" "90" "1670" "0" "1670" "0" "c.1670G>C" "r.(?)" "p.(Cys557Ser)" "13" "0000879269" "00001177" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" "6" "0000879270" "00001177" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Trp)" "7" "0000879271" "00001177" "90" "1225" "-1" "1412" "1" "c.(1224+1_1225-1)_(1412+1_1413-1)del" "r.spl" "p.(Ile409ValfsTer2)" "10i_11i" "0000879272" "00001177" "90" "119" "0" "128" "0" "c.119_128del" "r.(?)" "p.(Gly40AlafsTer7)" "3" "0000879273" "00001177" "90" "1632" "0" "1632" "0" "c.1632C>G" "r.(?)" "p.(Tyr544Ter)" "12" "0000879274" "00001177" "90" "1632" "0" "1632" "0" "c.1632C>G" "r.(?)" "p.(Tyr544Ter)" "12" "0000879275" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879276" "00001177" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "5" "0000879277" "00001177" "90" "2146" "0" "2146" "0" "c.2146G>C" "r.(?)" "p.(Gly716Arg)" "15" "0000879278" "00001177" "90" "1877" "2" "1877" "2" "c.1877+2T>C" "r.(1658_1877del)" "p.?" "13i" "0000879279" "00001177" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" "6" "0000879280" "00001177" "90" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Gly169Arg)" "6" "0000879281" "00001177" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Cys590Arg)" "13" "0000879282" "00001177" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Trp)" "7" "0000879283" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879284" "00001177" "90" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Asp128Asn)" "5" "0000879285" "00001177" "90" "1821" "0" "1821" "0" "c.1821C>A" "r.(?)" "p.(Tyr607Ter)" "13" "0000879286" "00001177" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" "6" "0000879287" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Cys)" "13" "0000879288" "00001177" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Gln608Ter)" "13" "0000879289" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879290" "00001177" "90" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220Ter)" "6" "0000879291" "00001177" "90" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220Ter)" "6" "0000879292" "00001177" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Gln422Ter)" "11" "0000879293" "00001177" "90" "1888" "0" "1888" "0" "c.1888G>T" "r.(?)" "p.(Glu630Ter)" "14" "0000879294" "00001177" "90" "658" "0" "658" "0" "c.658G>T" "r.(?)" "p.(Glu220Ter)" "6" "0000879295" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879296" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879297" "00001177" "90" "962" "0" "962" "0" "c.962C>A" "r.(?)" "p.(Ala321Glu)" "8" "0000879298" "00001177" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Ter)" "4" "0000879299" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879300" "00001177" "90" "505" "0" "505" "0" "c.505G>A" "r.(?)" "p.(Gly169Arg)" "6" "0000879301" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879302" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879303" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879304" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879305" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Cys)" "13" "0000879306" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879307" "00001177" "90" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ala270Val)" "7" "0000879308" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879309" "00001177" "90" "1224" "4" "1224" "4" "c.1224+4A>G" "r.(?)" "p.?" "10i" "0000879310" "00001177" "90" "1878" "-2" "1878" "-2" "c.1878-2A>C" "r.(?)" "p.?" "13i" "0000879311" "00001177" "90" "1224" "4" "1224" "4" "c.1224+4A>G" "r.(?)" "p.?" "10i" "0000879312" "00001177" "90" "1224" "4" "1224" "4" "c.1224+4A>G" "r.(?)" "p.?" "10i" "0000879313" "00001177" "90" "1224" "4" "1224" "4" "c.1224+4A>G" "r.(?)" "p.?" "10i" "0000879314" "00001177" "90" "1224" "4" "1224" "4" "c.1224+4A>G" "r.(?)" "p.?" "10i" "0000879315" "00001177" "90" "1057" "0" "1059" "0" "c.1057_1059delinsN[15]" "r.(?)" "p.?" "9" "0000879316" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879317" "00001177" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Cys590Arg)" "13" "0000879318" "00001177" "90" "1821" "0" "1821" "0" "c.1821C>A" "r.(?)" "p.(Tyr607Ter)" "13" "0000879319" "00001177" "90" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Gln608Ter)" "13" "0000879320" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879321" "00001177" "90" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Cys562Tyr)" "13" "0000879322" "00001177" "90" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Gly236Trp)" "6" "0000879323" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879324" "00001177" "90" "1670" "0" "1670" "0" "c.1670G>C" "r.(?)" "p.(Cys557Ser)" "13" "0000879325" "00001177" "90" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Asp134Tyr)" "5" "0000879326" "00001177" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Pro178Ser)" "6" "0000879327" "00001177" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Pro178Ser)" "6" "0000879328" "00001177" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Pro178Ser)" "6" "0000879329" "00001177" "90" "268" "0" "268" "0" "c.268del" "r.(?)" 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"p.(Val600TyrfsTer33)" "13" "0000879494" "00001177" "90" "557" "0" "557" "0" "c.557dup" "r.(?)" "p.(Leu187AlafsTer78)" "6" "0000879495" "00001177" "90" "941" "0" "944" "0" "c.941_944dup" "r.(?)" "p.(Asn315LysfsTer12)" "8" "0000879496" "00001177" "90" "499" "1" "499" "1" "c.499+1G>T" "r.(329_499del)" "p.?" "5i" "0000879497" "00001177" "90" "742" "-1" "742" "-1" "c.742-1G>A" "r.(742_897del)" "p.?" "6i" "0000879498" "00001177" "90" "742" "-1" "742" "-1" "c.742-1G>A" "r.(742_897del)" "p.?" "6i" "0000879499" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879500" "00001177" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Gly251Ser)" "7" "0000879501" "00001177" "90" "1878" "-2" "1878" "-2" "c.1878-2A>C" "r.(1878_2080del)" "p.?" "13i" "0000879502" "00001177" "90" "1878" "-1" "1878" "-1" "c.1878-1G>A" "r.(1878_2080del)" "p.?" "13i" "0000879503" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879504" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879505" "00001177" "90" "953" "0" "953" "0" "c.953C>A" "r.(?)" "p.(Pro318His)" "8" "0000879506" "00001177" "90" "1472" "0" "1475" "0" "c.1472_1475del" "r.(?)" "p.(Gln491ArgfsTer37)" "12" "0000879507" "00001177" "90" "329" "-2" "329" "-2" "c.329-2A>G" "r.(329_499del)" "p.?" "4i" "0000879508" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879509" "00001177" "90" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Gly251Ser)" "7" "0000879510" "00001177" "90" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Gly251Ser)" "7" "0000879511" "00001177" "90" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Gly251Ser)" "7" "0000879512" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879513" "00001177" "90" "1225" "-4" "1268" "0" "c.1225-4_1268del" "r.(1225_1412del)" "p.(Ile409_Gln424del)" "10i_11i" "0000879514" "00001177" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Ter)" "4" "0000879515" "00001177" "90" "1840" "0" "1840" "0" "c.1840G>T" "r.(?)" "p.(Glu614Ter)" "13" "0000879516" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879517" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879518" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879519" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879520" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879521" "00001177" "90" "2055" "0" "2055" "0" "c.2055C>A" "r.(?)" "p.(Tyr685Ter)" "14" "0000879522" "00001177" "90" "1840" "0" "1840" "0" "c.1840G>T" "r.(?)" "p.(Glu614Ter)" "13" "0000879523" "00001177" "90" "821" "0" "821" "0" "c.821dup" "r.(?)" "p.(Leu275AlafsTer39)" "7" "0000879524" "00001177" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Cys590Arg)" "13" "0000879525" "00001177" "90" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Ter)" "14" "0000879526" "00001177" "90" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Ter)" "14" "0000879527" "00001177" "90" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Ter)" "14" "0000879528" "00001177" "90" "941" "0" "944" "0" "c.941_944dup" "r.(?)" "p.(Asn315LysfsTer12)" "8" "0000879529" "00001177" "90" "499" "1" "499" "1" "c.499+1G>A" "r.(329_499del)" "p.?" "5i" "0000879530" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879531" "00001177" "90" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Ter)" "14" "0000879532" "00001177" "90" "2077" "0" "2077" "0" "c.2077C>T" "r.(?)" "p.(Arg693Ter)" "14" "0000879533" "00001177" "90" "1516" "0" "1516" "0" "c.1516del" "r.(?)" "p.(Cys506AlafsTer23)" "12" "0000879534" "00001177" "90" "1083" "4" "1083" "4" "c.1083+4A>G" "r.(994_1080del)" "p.?" "9i" "0000879535" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879536" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879537" "00001177" "90" "920" "0" "920" "0" "c.920T>G" "r.(?)" "p.(Leu307Arg)" "8" "0000879538" "00001177" "90" "941" "0" "944" "0" "c.941_944dup" "r.(?)" "p.(Asn315LysfsTer12)" "8" "0000879539" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879540" "00001177" "90" "148" "-1" "148" "-1" "c.148-1G>A" "r.spl" "p.?" "3i" "0000879541" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879542" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879543" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879544" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879545" "00001177" "90" "119" "0" "128" "0" "c.119_128del" "r.(?)" "p.(Gly40AlafsTer7)" "3" "0000879546" "00001177" "90" "119" "0" "128" "0" "c.119_128del" "r.(?)" "p.(Gly40AlafsTer7)" "3" "0000879547" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879548" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "5" "0000879549" "00001177" "90" "1877" "1" "1877" "1" "c.1877+1G>A" "r.(?)" "p.?" "13i" "0000879550" "00001177" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Ter)" "4" "0000879551" "00001177" "90" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" "6" "0000879552" "00001177" "90" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Asp690GlufsTer25)" "14" "0000879553" "00001177" "90" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ala270Val)" "7" "0000879554" "00001177" "90" "186" "0" "186" "0" "c.186C>A" "r.(?)" "p.(Cys62Ter)" "4" "0000879555" "00001177" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Pro178Ser)" "6" "0000879556" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879557" "00001177" "90" "389" "0" "389" "0" "c.389A>G" "r.(?)" "p.(Tyr130Cys)" "5" "0000879558" "00001177" "90" "1670" "0" "1670" "0" "c.1670G>C" "r.(?)" "p.(Cys557Ser)" "13" "0000879559" "00001177" "90" "844" "0" "846" "0" "c.844_846del" "r.(?)" "p.(Asn282del)" "7" "0000879560" "00001177" "90" "1645" "0" "1645" "0" "c.1645T>C" "r.(?)" "p.(Cys549Arg)" "12" "0000879561" "00001177" "90" "821" "0" "821" "0" "c.821dup" "r.(?)" "p.(Leu275AlafsTer39)" "7" "0000879562" "00001177" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879563" "00001177" "90" "59" "-1" "59" "-1" "c.59-1G>A" "r.spl" "p.?" "2i" "0000879564" "00001177" "90" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Trp45Ter)" "3" "0000879565" "00001177" "90" "1657" "1" "1657" "1" "c.1657+1G>T" "r.(?)" "p.?" "12i" "0000879566" "00001177" "90" "108" "0" "112" "0" "c.108_112del" "r.(?)" "p.(Cys36Ter)" "3" "0000879567" "00001177" "90" "1788" "0" "1788" "0" "c.1788C>A" "r.(?)" "p.(Cys596Ter)" "13" "0000879568" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879569" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879570" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879571" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879572" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879573" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879574" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879575" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879576" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879577" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879578" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879579" "00001177" "90" "1401" "0" "1401" "0" "c.1401C>A" "r.(?)" "p.(Cys467Ter)" "11" "0000879580" "00001177" "90" "1052" "0" "1052" "0" "c.1052A>G" "r.1052a>g" "p.Asn351Ser" "9" "0000879581" "00001177" "90" "1602" "0" "1602" "0" "c.1602C>A" "r.(?)" "p.(Cys534Ter)" "12" "0000879582" "00001177" "90" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Asp690GlufsTer25)" "14" "0000879583" "00001177" "90" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Asp690GlufsTer25)" "14" "0000879584" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879585" "00001177" "90" "0" "0" "0" "0" "c.?" "r.1658_1877del" "p.Gly553ValfsTer7" "12i_13i" "0000879586" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.Arg593Cys" "13" "0000879587" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879588" "00001177" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Cys590Arg)" "13" "0000879589" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.1777c>u" "p.Arg593Cys" "13" "0000879590" "00001177" "90" "2200" "0" "2200" "0" "c.2200G>T" "r.2200g>u" "p.Glu734Ter" "15" "0000879591" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Cys)" "13" "0000879592" "00001177" "90" "1920" "0" "1920" "0" "c.1920del" "r.(?)" "p.(Lys641ArgfsTer17)" "14" "0000879593" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879594" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879595" "00001177" "90" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Asp690GlufsTer25)" "14" "0000879596" "00001177" "90" "602" "0" "602" "0" "c.602del" "r.(?)" "p.(Pro201ArgfsTer8)" "6" "0000879597" "00001177" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Trp252Ter)" "7" "0000879598" "00001177" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Ter)" "6" "0000879599" "00001177" "90" "2080" "1" "2080" "1" "c.2080+1del" "r.spl" "p.?" "14i" "0000879600" "00001177" "90" "905" "0" "905" "0" "c.905C>T" "r.(?)" "p.(Pro302Leu)" "8" "0000879601" "00001177" "90" "" "0" "" "0" "c.-233_*415{0}" "r.0" "p.0" "_1_16_" "0000879602" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879603" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879604" "00001177" "90" "1658" "-2" "1658" "-2" "c.1658-2A>G" "r.spl" "p.?" "12i" "0000879605" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879606" "00001177" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67Ter)" "4" "0000879607" "00001177" "90" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Asp690GlufsTer25)" "14" "0000879608" "00001177" "90" "995" "0" "1004" "0" "c.995_1004del" "r.(?)" "p.(Lys332ArgfsTer44)" "9" "0000879609" "00001177" "90" "1602" "0" "1602" "0" "c.1602C>A" "r.(?)" "p.(Cys534Ter)" "12" "0000879610" "00001177" "90" "" "0" "" "0" "c.-233_*415{0}" "r.0" "p.0" "_1_16_" "0000879611" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879612" "00001177" "90" "1083" "5" "1083" "5" "c.1083+5G>C" "r.spl" "p.?" "9i" "0000879613" "00001177" "90" "59" "-10" "59" "-10" "c.59-10C>A" "r.[58_59ins[59-43_59-11;a;59-9_59-1],=]]" "p.?" "2i" "0000879614" "00001177" "90" "2070" "0" "2070" "0" "c.2070del" "r.(?)" "p.(Asp690GlufsTer25)" "14" "0000879615" "00001177" "90" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Tyr382ThrfsTer9)" "10" "0000879616" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.spl" "p.?" "7i" "0000879617" "00001177" "90" "897" "1" "897" "1" "c.897+1G>C" "r.spl" "p.?" "7i" "0000879618" "00001177" "90" "1413" "-149" "2080" "839" "c.1413-149_2080+839delinsAAAA" "r.?" "p.?" "11i_14i" "0000879619" "00001177" "90" "880" "0" "880" "0" "c.880A>T" "r.(?)" "p.(Lys294Ter)" "7" "0000879620" "00001177" "90" "1802" "0" "1802" "0" "c.1802G>T" "r.(?)" "p.(Cys601Phe)" "13" "0000879621" "00001177" "90" "41" "0" "58" "2" "c.41_58+2dup" "r.(-3_58del)" "p.0?" "2_2i" "0000879622" "00001177" "90" "82" "0" "95" "0" "c.82_95del" "r.(?)" "p.(Phe28LeufsTer26)" "3" "0000879623" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879624" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879625" "00001177" "90" "" "0" "" "0" "c.-233_*415{0}" "r.0" "p.0" "_1_16_" "0000879626" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879627" "00001177" "90" "897" "1" "897" "1" "c.897+1G>A" "r.(742_897del)" "p.?" "7i" "0000879628" "00001177" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Ter)" "4" "0000879629" "00001177" "90" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Gly236Arg)" "6" "0000879630" "00001177" "90" "897" "1" "897" "1" "c.897+1G>T" "r.(742_897del)" "p.?" "7i" "0000879631" "00001177" "10" "1062" "0" "1062" "0" "c.1062A>T" "r.(?)" "p.(Gln354His)" "9" "0000879632" "00001177" "90" "1777" "0" "1777" "0" "c.1777C>T" "r.(?)" "p.(Arg593Cys)" "13" "0000879633" "00001177" "90" "1828" "0" "1828" "0" "c.1828C>A" "r.(?)" "p.(Pro610Thr)" "13" "0000879634" "00001177" "90" "897" "1" "897" "1" "c.897+1G>C" "r.spl" "p.?" "7i" "0000879635" "00001177" "90" "1264" "0" "1264" "0" "c.1264C>T" "r.(?)" "p.(Gln422Ter)" "11" "0000879636" "00001177" "90" "1878" "-2" "1878" "-2" "c.1878-2A>C" "r.spl" "p.?" "13i" "0000879637" "00001177" "90" "1658" "-2" "1658" "-2" "c.1658-2A>G" "r.spl" "p.?" "12i" "0000879638" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879639" "00001177" "90" "1283" "0" "1283" "0" "c.1283T>G" "r.(?)" "p.(Ile428Ser)" "11" "0000879640" "00001177" "90" "742" "-1" "742" "-1" "c.742-1G>A" "r.spl" "p.?" "6i" "0000879641" "00001177" "90" "2147" "0" "2147" "0" "c.2147G>T" "r.(?)" "p.(Gly716Val)" "15" "0000879642" "00001177" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "6" "0000879643" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879644" "00001177" "90" "756" "0" "756" "0" "c.756G>C" "r.(?)" "p.(Trp252Cys)" "7" "0000879645" "00001177" "90" "941" "0" "944" "0" "c.941_944dup" "r.(?)" "p.(Asn315LysfsTer12)" "8" "0000879646" "00001177" "90" "59" "-1" "59" "-1" "c.59-1G>A" "r.spl" "p.?" "2i" "0000879647" "00001177" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Ter)" "4" "0000879648" "00001177" "90" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Arg108Ter)" "4" "0000879649" "00001177" "90" "" "0" "" "0" "c.-233_(-4+1_-3-1){0}" "r.?" "p.0?" "_1_1i" "0000879650" "00001177" "90" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879651" "00001177" "90" "1627" "0" "1627" "0" "c.1627C>T" "r.(?)" "p.(Arg543Cys)" "12" "0000879652" "00001177" "90" "1697" "0" "1697" "0" "c.1697del" "r.(?)" "p.(Pro566ArgfsTer18)" "13" "0000879653" "00001177" "90" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Ala270Val)" "7" "0000879654" "00001177" "90" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Arg)" "7" "0000879655" "00001177" "10" "1062" "0" "1062" "0" "c.1062A>T" "r.(?)" "p.(Gln354His)" "9" "0000879656" "00001177" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Gly284Ser)" "7" "0000879657" "00001177" "10" "500" "-29" "500" "-29" "c.500-29C>T" "r.499_500=" "p.=" "5i" "0000879658" "00001177" "10" "1062" "0" "1062" "0" "c.1062A>T" "r.(?)" "p.(Gln354His)" "9" "0000879659" "00001177" "90" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253His)" "7" "0000879660" "00001177" "10" "1062" "0" "1062" "0" "c.1062A>T" "r.(?)" "p.(Gln354His)" "9" "0000879661" "00001177" "90" "1658" "-2" "1658" "-2" "c.1658-2A>G" "r.spl" "p.?" "12i" "0000879662" "00001177" "90" "1878" "-2" "1878" "-2" "c.1878-2A>C" "r.spl" "p.?" "13i" "0000879663" "00001177" "90" "1062" "0" "1062" "0" "c.1062A>T" "r.(?)" "p.(Gln354His)" "9" "0000879664" "00001177" "90" "821" "0" "821" "0" "c.821dup" "r.(?)" "p.(Leu275AlafsTer39)" "7" "0000879665" "00001177" "10" "162" "0" "162" "0" "c.162G>A" "r.162g>a" "p.Pro54=" "4" "0000879666" "00001177" "10" "819" "0" "819" "0" "c.819G>A" "r.819g>a" "p.Gly273=" "7" "0000879667" "00001177" "10" "819" "0" "819" "0" "c.819G>A" "r.819g>a" "p.Gly273=" "7" "0000879668" "00001177" "10" "1323" "0" "1323" "0" "c.1323T>C" "r.1323u>c" "p.Val441=" "11" "0000879669" "00001177" "10" "24" "0" "24" "0" "c.24G>T" "r.24g>u" "p.Leu8=" "2" "0000879670" "00001177" "10" "819" "0" "819" "0" "c.819G>A" "r.819g>a" "p.Gly273=" "7" "0000879671" "00001177" "10" "1323" "0" "1323" "0" "c.1323T>C" "r.1323u>c" "p.Val441=" "11" "0000879672" "00001177" "10" "24" "0" "24" "0" "c.24G>T" "r.(24g>u)" "p.(Leu8=)" "2" "0000879673" "00001177" "50" "1756" "0" "1756" "0" "c.1756C>T" "r.1756c>u" "p.Arg586Trp" "6i" "0000879674" "00001177" "90" "66" "0" "67" "0" "c.66_67del" "r.66_67del" "p.Gln23GlyfsTer35" "3" "0000879675" "00001177" "90" "66" "0" "67" "0" "c.66_67del" "r.66_67del" "p.Gln23GlyfsTer35" "3" "0000895515" "00001177" "10" "1002" "0" "1002" "0" "c.1002C>T" "r.(?)" "p.(Thr334=)" "" "0000895516" "00001177" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Gly273=)" "" "0000895517" "00001177" "10" "328" "15" "328" "15" "c.328+15G>A" "r.(=)" "p.(=)" "" "0000895518" "00001177" "10" "148" "-16" "148" "-16" "c.148-16G>T" "r.(=)" "p.(=)" "" "0000895519" "00001177" "10" "24" "0" "24" "0" "c.24G>T" "r.(?)" "p.(Leu8=)" "" "0000895520" "00001177" "30" "13" "0" "13" "0" "c.13C>A" "r.(?)" "p.(Arg5Ser)" "" "0000915463" "00001177" "30" "1542" "0" "1542" "0" "c.1542C>T" "r.(?)" "p.(Cys514=)" "" "0000915464" "00001177" "10" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Val367=)" "" "0000915465" "00001177" "10" "500" "-11" "500" "-11" "c.500-11G>T" "r.(=)" "p.(=)" "" "0000927092" "00001177" "30" "1290" "0" "1290" "0" "c.1290G>A" "r.(?)" "p.(Ala430=)" "" "0000927093" "00001177" "30" "741" "19" "741" "19" "c.741+19C>T" "r.(=)" "p.(=)" "" "0000927094" "00001177" "30" "741" "16" "741" "16" "c.741+16del" "r.(=)" "p.(=)" "" "0000927095" "00001177" "30" "504" "0" "504" "0" "c.504C>T" "r.(?)" "p.(Phe168=)" "" "0000927096" "00001177" "30" "59" "-15" "59" "-15" "c.59-15G>A" "r.(=)" "p.(=)" "" "0000927097" "00001177" "30" "51" "0" "51" "0" "c.51C>T" "r.(?)" "p.(Leu17=)" "" "0000931228" "00001177" "30" "1969" "0" "1969" "0" "c.1969G>A" "r.(?)" "p.(Val657Met)" "" "0000931229" "00001177" "30" "1657" "8" "1657" "8" "c.1657+8C>T" "r.(=)" "p.(=)" "" "0000931230" "00001177" "30" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(=)" "" "0000951518" "00001177" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(=)" "" "0000984019" "00001177" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Asp128Tyr)" "" "0001005795" "00001177" "70" "500" "-12" "500" "-12" "c.500-12T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 543 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006027" "0000181448" "0000405144" "0000246321" "0000498908" "0000294192" "0000650881" "0000307023" "0000673560" "0000335775" "0000734664" "0000336246" "0000735437" "0000419161" "0000879097" "0000419162" "0000879098" "0000419163" "0000879099" "0000419164" "0000879100" "0000419165" "0000879101" "0000419166" "0000879102" "0000419167" "0000879103" "0000419171" "0000879144" "0000419171" "0000879145" "0000419173" "0000879148" "0000419174" "0000879149" "0000419175" "0000879150" "0000419176" "0000879151" "0000419177" "0000879152" "0000419178" "0000879153" "0000419179" "0000879154" "0000419180" "0000879155" "0000419181" "0000879156" "0000419182" "0000879157" "0000419183" "0000879158" "0000419184" "0000879159" "0000419185" "0000879160" "0000419186" "0000879161" "0000419187" "0000879162" "0000419188" "0000879163" "0000419189" "0000879164" "0000419190" "0000879165" "0000419191" "0000879166" "0000419192" "0000879167" "0000419193" "0000879168" "0000419194" "0000879169" "0000419194" "0000879674" "0000419195" "0000879170" "0000419195" "0000879675" "0000419196" "0000879171" "0000419196" "0000879580" "0000419196" "0000879673" "0000419197" "0000879172" "0000419197" "0000879581" "0000419198" "0000879173" "0000419198" "0000879582" "0000419199" "0000879174" "0000419199" "0000879583" "0000419200" "0000879175" "0000419201" "0000879176" "0000419202" "0000879177" "0000419203" "0000879178" "0000419204" "0000879179" "0000419205" "0000879180" "0000419206" "0000879181" "0000419207" "0000879182" "0000419208" "0000879183" "0000419209" "0000879184" "0000419209" "0000879584" "0000419210" "0000879185" "0000419211" "0000879186" "0000419212" "0000879187" "0000419212" "0000879585" "0000419213" "0000879188" "0000419214" "0000879189" "0000419214" "0000879586" "0000419214" 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"0000419237" "0000879212" "0000419237" "0000879596" "0000419238" "0000879213" "0000419239" "0000879214" "0000419240" "0000879215" "0000419241" "0000879216" "0000419242" "0000879217" "0000419242" "0000879597" "0000419243" "0000879218" "0000419243" "0000879598" "0000419244" "0000879219" "0000419245" "0000879220" "0000419245" "0000879599" "0000419246" "0000879221" "0000419247" "0000879222" "0000419247" "0000879600" "0000419248" "0000879223" "0000419249" "0000879224" "0000419250" "0000879225" "0000419251" "0000879226" "0000419252" "0000879227" "0000419253" "0000879228" "0000419254" "0000879229" "0000419255" "0000879230" "0000419256" "0000879231" "0000419256" "0000879601" "0000419257" "0000879232" "0000419258" "0000879233" "0000419259" "0000879234" "0000419260" "0000879235" "0000419261" "0000879236" "0000419261" "0000879602" "0000419262" "0000879237" "0000419262" "0000879603" "0000419263" "0000879238" "0000419263" "0000879604" "0000419264" "0000879239" "0000419265" "0000879240" "0000419266" 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