### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITGB3) # 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}}" "ITGB3" "integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)" "17" "q21.32" "unknown" "NC_000017.10" "UD_132118861090" "" "https://www.LOVD.nl/ITGB3" "" "1" "6156" "3690" "173470" "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/ITGB3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-12-10 15:53:10" "00006" "2025-12-16 16:39:42" ## 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}}" "00010204" "ITGB3" "integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)" "001" "NM_000212.2" "" "NP_000203.2" "" "" "" "-20" "4874" "2367" "45331208" "45390077" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02093" "GT2;BDPLT23" "thrombasthenia, Glanzmann, type 2" "AR" "619267" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-12-12 10:01:24" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "07095" "GT" "thrombasthenia, Glanzmann\'s" "" "" "" "" "" "00006" "2024-07-01 11:24:10" "00006" "2025-12-12 09:59:13" "07096" "BDPLT24" "bleeding disorder, platelet, type 24" "AD" "619271" "" "" "" "00006" "2024-07-01 11:27:52" "" "" "07213" "FMAIT" "fetomaternal alloimmune thrombocytopenia" "" "" "" "" "" "00006" "2025-12-10 15:54:10" "00006" "2025-12-13 18:58:46" "07215" "BDPLT" "bleeding disorder, platelet type" "" "" "" "" "" "00006" "2025-12-13 08:58:08" "" "" "07216" "FMAIT1" "fetomaternal alloimmune thrombocytopenia, type 1" "" "621264" "" "" "" "00006" "2025-12-13 18:59:19" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "ITGB3" "02093" "ITGB3" "07095" "ITGB3" "07096" "ITGB3" "07213" "ITGB3" "07216" ## Individuals ## Do not remove or alter this header ## ## Count = 147 "{{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}}" "00291771" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304588" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00358957" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71918" "00358972" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70559" "00451682" "" "" "00451684" "1" "" "04716" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "older brother" "F" "no" "China" "05y" "0" "" "" "Asian" "Pat1" "00451684" "" "" "" "2" "" "04716" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "5-generation family, 2 affected (1F, 1M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "China" "05y" "0" "" "" "Asia" "Pat2" "00470752" "" "" "" "1" "" "00006" "{PMID:Bajt 1992:1371279}" "" "" "" "United States" "" "0" "" "" "" "PatET" "00470754" "" "" "" "1" "" "00006" "{PMID:Lanza 1992:1602006}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "PatMS" "00470755" "" "" "" "2" "" "00006" "{PMID:Loftus 1990:2392682}" "family, 2 affected sibs" "" "" "United States" "" "0" "" "" "" "family" "00470756" "" "" "" "1" "" "00006" "{PMID:Chen 1992:1438206}" "" "" "" "United States" "" "0" "" "" "" "PatP" "00470757" "" "" "" "1" "" "00006" "{PMID:Wang 1992:1430225}" "" "" "" "United States" "" "0" "" "" "" "Pen(b)" "00470760" "" "" "" "1" "" "00006" "{PMID:Newman 1989:2565345}" "" "" "" "United States" "" "0" "" "" "" "Pl(A2)" "00470761" "" "" "" "1" "" "00006" "{PMID:Kuipers 1993:8093349}, {PMID:Kroll 1990:2257303}" "" "" "" "Germany" "" "0" "" "" "" "Sra" "00470762" "" "" "" "1" "" "00006" "{PMID:Simsek 1993:8471765}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "patient" "00470763" "" "" "" "1" "" "00006" "{PMID:McFarland 1993:8507868}, {PMID:Wang 1993:7694683}" "3-generation family, 1 affected, unaffectedheterozygous carrier father" "M" "" "Canada" "" "0" "" "" "Fillipines" "FamPatIII2" "00470764" "" "" "" "1" "" "00006" "{PMID:Wang 1993:7694683}" "" "" "" "Canada" "" "0" "" "" "" "control" "00470765" "" "" "" "1" "" "00006" "{PMID:Wang 1993:7694683}" "" "" "" "" "" "0" "" "" "" "TU-PatC" "00470766" "" "" "" "1" "" "00006" "{PMID:Wang 1993:7694683}" "" "" "" "" "" "0" "" "" "" "TU-PatD" "00470767" "" "" "" "1" "" "00006" "{PMID:Wang 1993:7694683}" "" "" "" "" "" "0" "" "" "jew;Kurdistan" "control" "00470768" "" "" "" "1" "" "00006" "{PMID:Grimaldi 1996:8781422}" "" "F" "yes" "China" "" "0" "" "" "" "patient" "00470769" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470770" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470771" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470772" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470773" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470774" "" "" "" "1" "" "00006" "{PMID:Newman 1991:2014236}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470778" "" "" "" "1" "" "00006" "{PMID:Rosenberg 1997:9160670}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Israel" "" "0" "" "" "jew;Iraq" "FamPatII2" "00470779" "" "" "" "1" "" "00006" "{PMID:Rosenberg 1997:9160670}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470780" "" "" "" "1" "" "00006" "{PMID:Rosenberg 1997:9160670}" "family" "" "" "Israel" "" "0" "" "" "jew;Iraq" "family" "00470781" "" "" "" "1" "" "00006" "{PMID:Wang 1997:9351872}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "United States" "" "0" "" "" "African-American" "PatRM" "00470782" "" "" "" "1" "" "00006" "{PMID:Ferrer 1998:9845537}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "white" "patient" "00470796" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT03" "00470797" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT04" "00470798" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT07" "00470799" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT08" "00470800" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT09" "00470801" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT11" "00470802" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT16" "00470803" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT17" "00470804" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT20" "00470805" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT21" "00470806" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT25" "00470807" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT32" "00470808" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT33" "00470809" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT34" "00470810" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT39" "00470811" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT40" "00470812" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT42" "00470813" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT48" "00470814" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT50" "00470815" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT53" "00470816" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "M" "" "India" "" "0" "" "" "" "GT55" "00470817" "" "" "" "2" "" "00006" "{PMID:Peretz 2006:16463284}" "family, 2 affected sibs" "F" "" "India" "" "0" "" "" "" "GT60-1" "00470818" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT60-2" "00470819" "" "" "" "1" "" "00006" "{PMID:Peretz 2006:16463284}" "" "F" "" "India" "" "0" "" "" "" "GT64" "00470820" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "MR" "00470821" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "SM" "00470822" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "LPR" "00470823" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "F" "" "Italy" "" "0" "" "" "" "GI" "00470824" "" "" "" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "patient" "M" "" "Italy" "" "0" "" "" "" "DOM" "00470825" "" "" "" "3" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "family, 3 affected" "F" "" "Italy" "" "0" "" "" "" "CI" "00470826" "" "" "00470825" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "twin brother" "M" "" "Italy" "" "0" "" "" "" "CD" "00470827" "" "" "00470825" "1" "" "00006" "{PMID:D\'Andrea 2002:12083483}" "sib" "F" "" "Italy" "" "0" "" "" "" "CG" "00470846" "" "" "" "1" "" "00006" "{PMID:Jin 1996:8878424}" "2-generation family, 1 affected, unaffected mother" "F" "" "United States" "" "0" "" "" "African-American" "RS" "00470847" "" "" "" "1" "" "00006" "{PMID:Zimrin 1990:2341395}" "" "" "" "United States" "" "0" "" "" "" "control" "00470848" "" "" "" "1" "" "00006" "{PMID:Zimrin 1990:2341395}" "" "" "" "United States" "" "0" "" "" "" "control" "00470849" "" "" "" "1" "" "00006" "{PMID:Zimrin 1990:2341395}" "" "" "" "United States" "" "0" "" "" "" "control" "00470868" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-19" "00470869" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "Africa-N" "CabGT-20" "00470870" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-21" "00470871" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "South Africa" "" "0" "" "" "" "CabGT-22" "00470872" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-23" "00470873" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "Africa-N" "CabGT-24" "00470874" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "" "CabGT-25" "00470875" "" "" "" "1" "" "00006" "{PMID:Jallu 2010:20020534}" "patient" "" "" "France" "" "0" "" "" "Africa-N" "CabGT-26" "00470876" "" "" "" "1" "" "00006" "{PMID:Nurden 2002:11897046}, {PMID:Nurden 2015:25728920}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "France" "" "0" "" "" "" "RM;GT9" "00470878" "" "" "" "1" "" "00006" "{PMID:Vinciguerra 1995:8571304}, {PMID:Negrier 1998:9450787}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "" "Fam1" "00470880" "" "" "" "2" "" "00006" "{PMID:Negrier 1998:9450787}" "2-generation family, 2 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "Pat3" "00470902" "" "" "" "5" "" "00006" "{PMID:Ghevaert 2008:18065693}" "4-generation family, 5 affected (5F)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "family" "00470903" "" "" "" "18" "" "00006" "{PMID:Gresele 2009:19336737}" "5-generation family, 18 affected (12F, 6M)" "F" "" "Italy" "" "0" "" "" "" "FamA" "00470904" "" "" "" "2" "" "00006" "{PMID:Gresele 2009:19336737}" "2-generation family, affected mother/daughter" "F" "" "Italy" "" "0" "" "" "" "Fam2" "00470905" "" "" "" "1" "" "00006" "{PMID:Jayo 2010:20081061}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Spain" "" "0" "" "" "" "patient" "00470906" "" "" "" "10" "" "00006" "{PMID:Kobayashi 2013:23253071}" "4-generation family, 10 affected (6F, 4M)" "F;M" "" "Japan" "" "0" "" "" "" "family" "00470910" "" "" "" "1" "" "00006" "{PMID:Sachs 2012:22116617}" "3-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "Germany" "" "0" "" "" "" "PatIII1" "00470911" "" "" "" "1" "" "00006" "{PMID:Peterson 2010:19821948}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "" "" "United States" "" "0" "" "" "" "Pat1(Sta)" "00470912" "" "" "" "1" "" "00006" "{PMID:Peterson 2010:19821948}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "" "" "United States" "" "0" "" "" "" "Pat3(Nos)" "00470914" "" "" "" "1" "" "00006" "{PMID:Sullivan 2017:28518345}" "" "" "" "United States" "" "0" "" "" "" "patient" "00470915" "" "" "" "1" "" "00006" "{PMID:Holzwarth 2020:31859394}" "" "F" "" "Germany" "" "0" "" "" "" "patient" "00470916" "" "" "" "1" "" "00006" "{PMID:Simsek 1994:7863631}" "3-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "Netherlands" "" "0" "" "" "" "patient" "00470917" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470918" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470919" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470920" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470921" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470922" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470923" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "patient" "00470944" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "yes" "France" "" "0" "" "" "Africa" "GT1" "00470945" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "" "France" "" "0" "" "" "" "GT3" "00470947" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 2 affected brothers" "M" "no" "France" "" "0" "" "" "" "GT5" "00470948" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "yes" "France;Algeria" "" "0" "" "" "" "GT6" "00470949" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brother" "F" "no" "France" "" "0" "" "" "" "GT7" "00470953" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brother (died at birth)" "F" "yes" "France" "" "0" "" "" "" "GT12" "00470962" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "France" "" "0" "" "" "" "GT23" "00470968" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brother" "F" "no" "United States" "" "0" "" "" "" "GT30" "00470970" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected brother/sister" "M" "" "United States" "" "0" "" "" "Laos" "GT33a" "00470972" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 2 affected sisters" "F" "no" "United States" "" "0" "" "" "" "GT35a" "00470974" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "no" "Switzerland;United States" "" "0" "" "" "" "GT38" "00470979" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brither" "F" "yes" "Morocco" "7y" "0" "" "" "" "GT43a" "00470983" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "France" "" "0" "" "" "" "GT48" "00470985" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "" "M" "yes" "France" "" "0" "" "" "" "GT50" "00470986" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "France" "" "0" "" "" "Africa" "GT51" "00470988" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "Argentina;Brazil" "" "0" "" "" "" "GT53" "00470989" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "no" "Argentina;Italy" "" "0" "" "" "" "GT54" "00470993" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "M" "likely" "France;Italy" "" "0" "" "" "" "GT60" "00470994" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, affected sister/brother (deceased)" "F" "no" "France;Italy" "" "0" "" "" "" "GT61" "00470995" "" "" "" "2" "" "00006" "{PMID:Nurden 2015:25728920}" "2-generation family, 2 affected sisters" "F" "no" "France" "" "0" "" "" "" "GT62" "00471002" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "yes" "France" "" "0" "" "" "Arab" "GT70" "00471004" "" "" "" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "patient, no affected relatives" "F" "" "France" "" "0" "" "" "" "GT73" "00471008" "" "" "00470970" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "sister" "F" "" "United States" "" "0" "" "" "Laos" "GT33b" "00471009" "" "" "00470972" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "sister" "F" "no" "United States" "" "0" "" "" "" "GT35b" "00471013" "" "" "00470979" "1" "" "00006" "{PMID:Nurden 2015:25728920}" "brother" "M" "yes" "Morocco" "" "0" "" "" "" "GT43b" "00471059" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT11" "00471063" "" "" "" "2" "" "00006" "{PMID:Zhou 2018:29675921}" "family, 2 affected siblings" "M" "no" "China" "" "0" "" "" "Han" "GT15a" "00471064" "" "" "00471063" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "brother" "M" "no" "China" "" "0" "" "" "Han" "GT15b" "00471074" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT23" "00471076" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT25" "00471079" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT28" "00471082" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT31" "00471084" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT33" "00471087" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT36" "00471089" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "no" "China" "" "0" "" "" "Han" "GT38" "00471092" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "M" "no" "China" "" "0" "" "" "Han" "GT41" "00471093" "" "" "" "1" "" "00006" "{PMID:Zhou 2018:29675921}" "patient, no family history" "F" "yes" "China" "" "0" "" "" "Han" "GT42" "00471102" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT10" "00471103" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT11" "00471109" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT2" "00471112" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT24" "00471114" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT28" "00471115" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT3" "00471116" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT30" "00471117" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT31" "00471121" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT39" "00471122" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT41" "00471125" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT53" "00471128" "" "" "" "2" "" "00006" "{PMID:Kannan 2009:19691478}" "family, 2 affected" "" "" "India" "" "0" "" "" "" "GT59" "00471134" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT72" "00471135" "" "" "" "1" "" "00006" "{PMID:Kannan 2009:19691478}" "patient" "" "" "India" "" "0" "" "" "" "GT9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 147 "{{individualid}}" "{{diseaseid}}" "00291771" "00198" "00304588" "00198" "00358957" "04214" "00358972" "04214" "00451682" "02093" "00451684" "02093" "00470752" "02093" "00470754" "02093" "00470755" "02093" "00470756" "02093" "00470757" "00198" "00470760" "00198" "00470761" "00198" "00470762" "02093" "00470763" "07213" "00470764" "00000" "00470765" "00000" "00470766" "00000" "00470767" "00000" "00470768" "02093" "00470769" "02093" "00470770" "02093" "00470771" "02093" "00470772" "02093" "00470773" "02093" "00470774" "02093" "00470778" "02093" "00470779" "02093" "00470780" "02093" "00470781" "02093" "00470782" "02093" "00470796" "02093" "00470797" "02093" "00470798" "02093" "00470799" "02093" "00470800" "02093" "00470801" "02093" "00470802" "02093" "00470803" "02093" "00470804" "02093" "00470805" "02093" "00470806" "02093" "00470807" "02093" "00470808" "02093" "00470809" "02093" "00470810" "02093" "00470811" "02093" "00470812" "02093" "00470813" "02093" "00470814" "02093" "00470815" "02093" "00470816" "02093" "00470817" "02093" "00470818" "02093" "00470819" "02093" "00470820" "02093" "00470821" "02093" "00470822" "02093" "00470823" "02093" "00470824" "02093" "00470825" "02093" "00470826" "02093" "00470827" "02093" "00470846" "02093" "00470847" "00000" "00470848" "00000" "00470849" "00000" "00470868" "07095" "00470869" "07095" "00470870" "07095" "00470871" "07095" "00470872" "07095" "00470873" "07095" "00470874" "07095" "00470875" "07095" "00470876" "07095" "00470878" "07095" "00470880" "07095" "00470902" "07215" "00470903" "07215" "00470904" "07215" "00470905" "07215" "00470906" "07215" "00470910" "07213" "00470911" "07213" "00470912" "07213" "00470914" "07213" "00470915" "07213" "00470916" "07213" "00470917" "07213" "00470918" "07213" "00470919" "07213" "00470920" "07213" "00470921" "07213" "00470922" "07213" "00470923" "07213" "00470944" "07095" "00470945" "07095" "00470947" "07095" "00470948" "07095" "00470949" "07095" "00470953" "07095" "00470962" "07095" "00470968" "07095" "00470970" "07095" "00470972" "07095" "00470974" "07095" "00470979" "07095" "00470983" "07095" "00470985" "07095" "00470986" "07095" "00470988" "07095" "00470989" "07095" "00470993" "07095" "00470994" "07095" "00470995" "07095" "00471002" "07095" "00471004" "07095" "00471008" "07095" "00471009" "07095" "00471013" "07095" "00471059" "07095" "00471063" "07095" "00471064" "07095" "00471074" "07095" "00471076" "07095" "00471079" "07095" "00471082" "07095" "00471084" "07095" "00471087" "07095" "00471089" "07095" "00471092" "07095" "00471093" "07095" "00471102" "07095" "00471103" "07095" "00471109" "07095" "00471112" "07095" "00471114" "07095" "00471115" "07095" "00471116" "07095" "00471117" "07095" "00471121" "07095" "00471122" "07095" "00471125" "07095" "00471128" "07095" "00471134" "07095" "00471135" "07095" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02093, 04214, 07095, 07096, 07213, 07215, 07216 ## Count = 127 "{{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}}" "0000254255" "04214" "00358957" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254270" "04214" "00358972" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000340345" "02093" "00451684" "04716" "Familial, autosomal recessive" "14y" "Easy bleeding (HP:0011889), Subcutaneous hemorrhage (HP:0001933), Epistaxis (HP:0000421), Gingival bleeding(HP:0000225), Oral cavity bleeding (HP:0030140), Menorrhagia (HP:0000132); brother died 5y-oral cavity/nasal hemorrhage" "00y01m" "14y" "Subcutaneous hemorrhage (HP:0001933)" "" "" "" "" "" "GT2" "Glanzmann’s thrombasthenia" "" "0000340358" "02093" "00451682" "00006" "Familial, autosomal recessive" "" "see paper; ..., died 5y-oral cavity/nasal hemorrhage" "" "" "" "" "" "" "" "" "GT2" "Glanzmann\'s thrombasthenia" "" "0000355648" "02093" "00470752" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355650" "02093" "00470754" "00006" "Familial, autosomal recessive" "19y" "see paper; ..." "" "" "" "" "" "" "" "" "GT2" "Glanzmann\'s thrombasthenia" "" "0000355651" "02093" "00470755" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355652" "02093" "00470756" "00006" "Familial, autosomal recessive" "" "see paper; ..., life-long bleeding tendency, failure\r\nof platelets to aggregate and bind fibrinogen in response to agonists such as ADP, collagen, or thrombin" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355654" "02093" "00470762" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., childhood severe hemorrhagic diathesis, epistaxis, gingival bleeding, menorrhagia, (regular transfusions whole blood and/or platelets" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355655" "02093" "00470768" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., lifelong epistaxis, gum bleeding, petechias, purpura; severe monorrhagia, anemia, need for whole-blood transfusion; normal coagulation assays; prolonged bleeding time; absent clot retraction; decreased glass bead retention; absent platelet aggregation in response to adenine diphosphate/pinephrine/collagen; normal initial slope of platelet aggregation in response to ristocetin, but with a diminished maximal extent." "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355656" "02093" "00470769" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355657" "02093" "00470770" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355658" "02093" "00470771" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355659" "02093" "00470772" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355660" "02093" "00470773" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355661" "02093" "00470774" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355665" "02093" "00470778" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355666" "02093" "00470779" "00006" "Familial, autosomal recessive" "" "see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355667" "02093" "00470780" "00006" "Familial, autosomal recessive" "" "see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355668" "02093" "00470781" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal platelet counts, severe bleeding since birth" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355669" "02093" "00470782" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., from birth mucocutaneous bleeding episodes, unprovoked bruising, copious menstrual hemorrhages" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355683" "02093" "00470796" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355684" "02093" "00470797" "00006" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355685" "02093" "00470798" "00006" "Familial, autosomal recessive" "3y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355686" "02093" "00470799" "00006" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355687" "02093" "00470800" "00006" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355688" "02093" "00470801" "00006" "Familial, autosomal recessive" "12y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355689" "02093" "00470802" "00006" "Familial, autosomal recessive" "11y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355690" "02093" "00470803" "00006" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355691" "02093" "00470804" "00006" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355692" "02093" "00470805" "00006" "Familial, autosomal recessive" "33y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355693" "02093" "00470806" "00006" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355694" "02093" "00470807" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355695" "02093" "00470808" "00006" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355696" "02093" "00470809" "00006" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355697" "02093" "00470810" "00006" "Familial, autosomal recessive" "14y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355698" "02093" "00470811" "00006" "Familial, autosomal recessive" "6y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355699" "02093" "00470812" "00006" "Familial, autosomal recessive" "26y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355700" "02093" "00470813" "00006" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355701" "02093" "00470814" "00006" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355702" "02093" "00470815" "00006" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355703" "02093" "00470816" "00006" "Familial, autosomal recessive" "21y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355704" "02093" "00470817" "00006" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355705" "02093" "00470818" "00006" "Familial, autosomal recessive" "25y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355706" "02093" "00470819" "00006" "Familial, autosomal recessive" "16y" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355707" "02093" "00470820" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "3y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355708" "02093" "00470821" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "16y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355709" "02093" "00470822" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "7y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355710" "02093" "00470823" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "6y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355711" "02093" "00470824" "00006" "Familial, autosomal recessive" "" "see paper; ..., mild" "" "2y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355712" "02093" "00470825" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "1y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355713" "02093" "00470826" "00006" "Familial, autosomal recessive" "" "see paper; ..., moderate" "" "1y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355714" "02093" "00470827" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe" "" "9y" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355733" "02093" "00470846" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., lifelong bleeding history, primarily nasal/gingival mucosa, menses" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355752" "07095" "00470868" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355753" "07095" "00470869" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355754" "07095" "00470870" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355755" "07095" "00470871" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355756" "07095" "00470872" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355757" "07095" "00470873" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355758" "07095" "00470874" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355759" "07095" "00470875" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355760" "07095" "00470876" "00006" "Familial, autosomal recessive" "73y" "see paper; ..., lifelong mucocutaneous bleeding history" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355762" "07095" "00470878" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355763" "07095" "00470880" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., bleeding" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355781" "07215" "00470902" "00006" "Familial, autosomal dominant" "" "see paper; ..., mild thrombocytopenia, platelet anisocytosis, giant platelets" "" "" "" "" "" "" "" "" "BDPLT24" "bleeding disorder" "" "0000355782" "07215" "00470903" "00006" "Familial, autosomal dominant" "" "see paper; ..., moderate thrombocytopenia, large platelets, defective platelet function, moderate-severe mucocutaneous bleeding" "" "" "" "" "" "" "" "" "BDPLT24" "bleeding disorder" "" "0000355783" "07215" "00470904" "00006" "Familial, autosomal dominant" "" "see paper; ..., moderate thrombocytopenia, large platelets, defective platelet function, moderate-severe mucocutaneous bleeding" "" "" "" "" "" "" "" "" "BDPLT24" "bleeding disorder" "" "0000355784" "07215" "00470905" "00006" "Isolated (sporadic)" "43y" "see paper; ..., severe bleeding phenotype, defective platelet aggregation/adhesion" "" "" "" "" "" "" "" "" "BDPLT24" "bleeding disorder" "" "0000355785" "07215" "00470906" "00006" "Familial, autosomal dominant" "" "see paper; ..., thrombocytopenia, anisocytosis" "" "" "" "" "" "" "" "" "BDPLT24" "bleeding disorder" "" "0000355789" "07213" "00470910" "00006" "Familial" "" "see paper; ..., birth-39w, facial petechiae, cephalic haematoma, no intracranial bleeding; pregnancy dalteparin treatment (previous miscarriages 10w, 21w)" "" "" "" "" "" "" "" "" "FMAIT1" "nfacial petechiae and cephalic haematoma, but no intracranial bleeding" "" "0000355790" "07213" "00470763" "00006" "Familial" "" "see paper; ..., neonatal alloimmune thrombocytopenia" "" "" "" "" "" "" "" "" "FMAIT1" "neonatal alloimmune thrombocytopenia" "" "0000355791" "07213" "00470911" "00006" "Familial" "" "see paper; ..., birth-36w ceasarean section (fetal distress during labor), scattered petechial hemorrhages" "" "" "" "" "" "" "" "" "FMAIT1" "neonatal alloimmune thrombocytopenia" "" "0000355792" "07213" "00470912" "00006" "Familial" "" "see paper; ..., birth scattered petechial hemorrhages, PLT count 14×10+9/L" "" "" "" "" "" "" "" "" "FMAIT1" "neonatal alloimmune thrombocytopenia" "" "0000355794" "07213" "00470915" "00006" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "FMAIT1" "neonatal alloimmune thrombocytopenia" "" "0000355795" "07213" "00470916" "00006" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "FMAIT1" "neonatal alloimmune thrombocytopenia" "" "0000355807" "07095" "00470944" "00006" "Familial, autosomal recessive" "9y" "significant bruising, persistant bleeding after surgery, major episodes of epistaxis, gingivorragia, tonsillar haemorrhage; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355808" "07095" "00470945" "00006" "Familial, autosomal recessive" "32y" "sometimes severe with hospitalisation. epistaxis, ecchymoses, purpura since birth, gastrointestinal bleeding, excessive menstrual bleeding; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355810" "07095" "00470947" "00006" "Familial, autosomal recessive" "7y" "epistaxis, easy bruising, post-traumatic bleeding, subarachnoid hemorrhage; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355811" "07095" "00470948" "00006" "Familial, autosomal recessive" "19y" "easy bruising, gingivorragia. severe bleeding syndrome; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355812" "07095" "00470949" "00006" "Familial, autosomal recessive" "18y" "easy bruising and epistaxis; absent platelet aggregation ADP, some response with other agonists; WHO4 bleeding score 1" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355816" "07095" "00470953" "00006" "Familial, autosomal recessive" "61y" "easy bruising, epistaxis, hematuria, heavy bleeding at menarche; absent platelet aggregation; WHO4 bleeding score 3; type 2 diabetes; Factor V Leiden" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355825" "07095" "00470962" "00006" "Familial, autosomal recessive" "19y" "severe epistaxis, easy bruising, gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355831" "07095" "00470968" "00006" "Familial, autosomal recessive" "" "epistaxis, gastrointestinal bleeding, diffuse bruising mainly with trauma; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355833" "07095" "00470970" "00006" "Familial, autosomal recessive" "" "deceased (car accident); severe from birth, epistaxis, gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355835" "07095" "00470972" "00006" "Familial, autosomal recessive" "18y" "severe life-threatening bleeding especially epistaxis. severe gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4; bone marrow transplant" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355837" "07095" "00470974" "00006" "Familial, autosomal recessive" "9y" "lifelong petechiae, easy bruising, gastrointestinal bleedings.; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355842" "07095" "00470979" "00006" "Familial, autosomal recessive" "7y" "7y-deceased (severe epistaxis); severe epistaxis; WHO4 bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355846" "07095" "00470983" "00006" "Familial, autosomal recessive" "10y" "ecchymoses, frequent hematomas, rare epistaxis. no serious episode of spontaneous bleeding. trauma-related bleeding. diagnosed at 66 years of age; WHO4 bleeding score 2" "" "" "" "" "" "" "" "" "GT2" "intellectual disability" "" "0000355848" "07095" "00470985" "00006" "Familial, autosomal recessive" "78y" "moderate bleeding syndrome, ecchymoses, gingivorrhagia; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "" "GT2" "intellectual disability" "" "0000355849" "07095" "00470986" "00006" "Familial, autosomal recessive" "29y" "epistaxis and mucocutaneous bleeding; absent platelet aggregation; WHO4 bleeding score 2" "" "" "" "" "" "" "" "" "GT2" "intellectual disability" "" "0000355851" "07095" "00470988" "00006" "Familial, autosomal recessive" "16y" "epistaxis, hematomas; absent platelet aggregation; WHO4 bleeding score 1" "" "" "" "" "" "" "" "" "GT2" "intellectual disability" "" "0000355852" "07095" "00470989" "00006" "Familial, autosomal recessive" "33y" "19y-hematomas, gingivorrhagia, bleeding after tooth extraction; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355856" "07095" "00470993" "00006" "Familial, autosomal recessive" "54y" "epistaxis, easy bruising, gingivorrhagia, gastrointestinal bleeding (adult); absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355857" "07095" "00470994" "00006" "Familial, autosomal recessive" "49y" "easy bruising, tonsil bleeding. menorrhagia.; absent platelet aggregation; WHO4 bleeding score 3; transient ischemic attack" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355858" "07095" "00470995" "00006" "Familial, autosomal recessive" "58y" "oesophegal bleeding, easy bruising, gingivorrhagia, menorrhagia. bleeding after tooth extraction. bleeding less frequent in later life.; absent platelet aggregation; WHO4 bleeding score 3; chronic lymphocytopenia" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355865" "07095" "00471002" "00006" "Familial, autosomal recessive" "21y" "bleeding since birth, bruising, purpura, hematomas. gastrointestinal bleeding, oropharynx bleeding, epistaxis, menorrhagia.; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355867" "07095" "00471004" "00006" "Unknown" "34y" "post-traumatic ecchymoses, epistaxis- severe during childhood. gingivorrhagias, menorrhagia.; absent platelet aggregation; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" "0000355871" "07095" "00471008" "00006" "Familial, autosomal recessive" "" "deceased (car accident); severe from birth, epistaxis, gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355872" "07095" "00471009" "00006" "Familial, autosomal recessive" "16y" "severe life-threatening bleeding especially epistaxis. severe gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4; bone marrow transplant" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355876" "07095" "00471013" "00006" "Familial, autosomal recessive" "11y" "moderate, epistaxis, purpura, ecchymoses, petechia. much bleeding at circumcision; WHO4 bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "severe adolescent idiopathic scoliosis" "" "0000355890" "07095" "00471059" "00006" "Familial, autosomal recessive" "12y" "menorrhagia, gingival bleeding, bruising, purpura, ecchymosis; no mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355894" "07095" "00471063" "00006" "Familial, autosomal recessive" "15y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355895" "07095" "00471064" "00006" "Familial, autosomal recessive" "9y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding; mitigation; normal platelet number; bleeding score 2" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355905" "07095" "00471074" "00006" "Familial, autosomal recessive" "11y" "menorrhagia, bruising, purpura, ecchymosis, gingival bleeding, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355907" "07095" "00471076" "00006" "Familial, autosomal recessive" "26y" "epistaxis, gingival bleeding, rupture of corpus luteum, menorrhagia, infertility; no mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355910" "07095" "00471079" "00006" "Familial, autosomal recessive" "6y" "bruising, purpura, ecchymosis, post traumatic hemorrhage, gastrointestinal bleeding, epistaxis, gingival bleeding; mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355913" "07095" "00471082" "00006" "Unknown" "13y" "bruising, purpura, ecchymosis, epistaxis, gingival bleeding; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355915" "07095" "00471084" "00006" "Familial, autosomal recessive" "12y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355918" "07095" "00471087" "00006" "Unknown" "8y" "intestinal intussusception and gastrointestinal bleeding, bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 4" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355920" "07095" "00471089" "00006" "Unknown" "23y" "bruising, purpura, ecchymosis, menorrhagia; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355923" "07095" "00471092" "00006" "Familial, autosomal recessive" "5y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355924" "07095" "00471093" "00006" "Familial, autosomal recessive" "9y" "bruising, purpura, ecchymosis, epistaxis; no mitigation; normal platelet number; bleeding score 3" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355936" "07095" "00471102" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355937" "07095" "00471103" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355943" "07095" "00471109" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355946" "07095" "00471112" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355948" "07095" "00471114" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355949" "07095" "00471115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355950" "07095" "00471116" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355951" "07095" "00471117" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355955" "07095" "00471121" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355956" "07095" "00471122" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355959" "07095" "00471125" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355962" "07095" "00471128" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "GT2" "Glanzmann thrombasthenia" "" "0000355968" "07095" "00471134" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" "0000355969" "07095" "00471135" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Glanzmann thrombasthenia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 147 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000292939" "00291771" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305717" "00304588" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000360194" "00358957" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360209" "00358972" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000453288" "00451684" "1" "04716" "04716" "2024-06-28 14:08:31" "" "" "SEQ-NG" "DNA" "peripheral blood" "whole exome sequencing" "0000453301" "00451682" "1" "04716" "00006" "2024-07-01 11:07:58" "00006" "2024-07-01 11:10:00" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472419" "00470752" "1" "00006" "00006" "2025-12-08 19:48:35" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472421" "00470754" "1" "00006" "00006" "2025-12-10 09:39:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472422" "00470755" "1" "00006" "00006" "2025-12-10 09:51:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472423" "00470756" "1" "00006" "00006" "2025-12-10 09:59:04" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472424" "00470757" "1" "00006" "00006" "2025-12-10 15:05:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472426" "00470760" "1" "00006" "00006" "2025-12-10 15:15:22" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472427" "00470761" "1" "00006" "00006" "2025-12-10 15:22:55" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472428" "00470762" "1" "00006" "00006" "2025-12-10 15:30:42" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472429" "00470763" "1" "00006" "00006" "2025-12-10 15:54:46" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472430" "00470764" "1" "00006" "00006" "2025-12-10 16:11:59" "" "" "SEQ" "DNA" "" "" "0000472431" "00470765" "1" "00006" "00006" "2025-12-10 16:16:51" "" "" "SEQ" "DNA" "" "" "0000472432" "00470766" "1" "00006" "00006" "2025-12-10 16:21:08" "" "" "SEQ" "DNA" "" "" "0000472433" "00470767" "1" "00006" "00006" "2025-12-10 16:31:47" "" "" "SEQ" "DNA" "" "" "0000472434" "00470768" "1" "00006" "00006" "2025-12-10 17:02:24" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472435" "00470769" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472436" "00470770" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472437" "00470771" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472438" "00470772" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472439" "00470773" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472440" "00470774" "1" "00006" "00006" "2025-12-10 17:39:32" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472444" "00470778" "1" "00006" "00006" "2025-12-10 18:02:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472445" "00470779" "1" "00006" "00006" "2025-12-10 18:02:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472446" "00470780" "1" "00006" "00006" "2025-12-10 18:02:49" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472447" "00470781" "1" "00006" "00006" "2025-12-10 19:12:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472448" "00470782" "1" "00006" "00006" "2025-12-10 19:26:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472462" "00470796" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472463" "00470797" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472464" "00470798" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472465" "00470799" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472466" "00470800" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472467" "00470801" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472468" "00470802" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472469" "00470803" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472470" "00470804" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472471" "00470805" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472472" "00470806" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472473" "00470807" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472474" "00470808" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472475" "00470809" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472476" "00470810" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472477" "00470811" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472478" "00470812" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472479" "00470813" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472480" "00470814" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472481" "00470815" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472482" "00470816" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472483" "00470817" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472484" "00470818" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472485" "00470819" "1" "00006" "00006" "2025-12-10 22:28:29" "" "" "SSCA;SEQ" "DNA" "" "" "0000472486" "00470820" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472487" "00470821" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472488" "00470822" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472489" "00470823" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472490" "00470824" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472491" "00470825" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472492" "00470826" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472493" "00470827" "1" "00006" "00006" "2025-12-11 13:47:17" "" "" "SEQ" "DNA" "" "" "0000472512" "00470846" "1" "00006" "00006" "2025-12-12 08:37:59" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000472513" "00470847" "1" "00006" "00006" "2025-12-12 09:18:45" "" "" "SEQ" "DNA" "" "" "0000472514" "00470848" "1" "00006" "00006" "2025-12-12 09:21:43" "" "" "SEQ" "DNA" "" "" "0000472515" "00470849" "1" "00006" "00006" "2025-12-12 09:24:03" "" "" "SEQ" "DNA" "" "" "0000472534" "00470868" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472535" "00470869" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472536" "00470870" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472537" "00470871" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472538" "00470872" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472539" "00470873" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472540" "00470874" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472541" "00470875" "1" "00006" "00006" "2025-12-12 10:04:12" "" "" "SEQ" "DNA" "" "" "0000472542" "00470876" "1" "00006" "00006" "2025-12-12 10:14:24" "" "" "SEQ;SSCA" "DNA" "" "" "0000472544" "00470878" "1" "00006" "00006" "2025-12-12 10:53:39" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472546" "00470880" "1" "00006" "00006" "2025-12-12 11:11:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472568" "00470902" "1" "00006" "00006" "2025-12-13 09:00:23" "" "" "SEQ" "DNA" "" "6-gene panel" "0000472569" "00470903" "1" "00006" "00006" "2025-12-13 09:12:28" "00006" "2025-12-13 09:16:45" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000472570" "00470904" "1" "00006" "00006" "2025-12-13 09:20:18" "" "" "SEQ" "DNA" "" "" "0000472571" "00470905" "1" "00006" "00006" "2025-12-13 09:30:03" "" "" "SEQ" "DNA" "" "" "0000472572" "00470906" "1" "00006" "00006" "2025-12-13 09:53:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472576" "00470910" "1" "00006" "00006" "2025-12-13 15:29:39" "" "" "SEQ" "DNA" "" "" "0000472577" "00470911" "1" "00006" "00006" "2025-12-13 15:55:36" "" "" "SEQ" "DNA" "" "" "0000472578" "00470912" "1" "00006" "00006" "2025-12-13 16:03:54" "" "" "SEQ" "DNA" "" "" "0000472580" "00470914" "1" "00006" "00006" "2025-12-13 16:17:58" "" "" "SEQ" "DNA" "" "" "0000472581" "00470915" "1" "00006" "00006" "2025-12-13 16:26:22" "" "" "SEQ" "DNA" "" "" "0000472582" "00470916" "1" "00006" "00006" "2025-12-13 17:06:32" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000472583" "00470917" "1" "00006" "00006" "2025-12-13 17:32:28" "" "" "SEQ" "DNA" "" "" "0000472584" "00470918" "1" "00006" "00006" "2025-12-13 17:35:57" "" "" "SEQ" "DNA" "" "" "0000472585" "00470919" "1" "00006" "00006" "2025-12-13 17:37:44" "" "" "SEQ" "DNA" "" "" "0000472586" "00470920" "1" "00006" "00006" "2025-12-13 17:41:46" "" "" "SEQ" "DNA" "" "" "0000472587" "00470921" "1" "00006" "00006" "2025-12-13 17:44:18" "" "" "SEQ" "DNA" "" "" "0000472588" "00470922" "1" "00006" "00006" "2025-12-13 18:16:08" "" "" "SEQ" "DNA" "" "" "0000472589" "00470923" "1" "00006" "00006" "2025-12-13 18:19:48" "" "" "SEQ" "DNA" "" "" "0000472610" "00470944" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472611" "00470945" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472613" "00470947" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472614" "00470948" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472615" "00470949" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472619" "00470953" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472628" "00470962" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472634" "00470968" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472636" "00470970" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472638" "00470972" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472640" "00470974" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472645" "00470979" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472649" "00470983" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472651" "00470985" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472652" "00470986" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472654" "00470988" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472655" "00470989" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472659" "00470993" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472660" "00470994" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472661" "00470995" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472668" "00471002" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472670" "00471004" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472674" "00471008" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472675" "00471009" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472679" "00471013" "1" "00006" "00006" "2025-12-14 21:30:56" "" "" "SEQ" "DNA" "" "" "0000472728" "00471059" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472732" "00471063" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472733" "00471064" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472743" "00471074" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472745" "00471076" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472748" "00471079" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472751" "00471082" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472753" "00471084" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472756" "00471087" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472758" "00471089" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472761" "00471092" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472762" "00471093" "1" "00006" "00006" "2025-12-15 16:46:45" "" "" "SEQ" "DNA" "" "" "0000472772" "00471102" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472773" "00471103" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472779" "00471109" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472782" "00471112" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472784" "00471114" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472785" "00471115" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472786" "00471116" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472787" "00471117" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472791" "00471121" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472792" "00471122" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472795" "00471125" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472798" "00471128" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472804" "00471134" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" "0000472805" "00471135" "1" "00006" "00006" "2025-12-16 16:39:38" "" "" "CSGE;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 142 "{{screeningid}}" "{{geneid}}" "0000453288" "ITGB3" "0000453301" "ITGB3" "0000472419" "ITGB3" "0000472421" "ITGB3" "0000472422" "ITGB3" "0000472423" "ITGB3" "0000472424" "ITGB3" "0000472426" "ITGB3" "0000472427" "ITGB3" "0000472428" "ITGB3" "0000472429" "ITGB3" "0000472430" "ITGB3" "0000472431" "ITGB3" "0000472432" "ITGB3" "0000472433" "ITGB3" "0000472434" "ITGB3" "0000472435" "ITGB3" "0000472436" "ITGB3" "0000472437" "ITGB3" "0000472438" "ITGB3" "0000472439" "ITGB3" "0000472440" "ITGB3" "0000472444" "ITGB3" "0000472445" "ITGB3" "0000472446" "ITGB3" "0000472447" "ITGB3" "0000472448" "ITGB3" "0000472462" "ITGB3" "0000472463" "ITGB3" "0000472464" "ITGB3" "0000472465" "ITGB3" "0000472466" "ITGB3" "0000472467" "ITGB3" "0000472468" "ITGB3" "0000472469" "ITGB3" "0000472470" "ITGB3" "0000472471" "ITGB3" "0000472472" "ITGB3" "0000472473" "ITGB3" "0000472474" "ITGB3" "0000472475" "ITGB3" "0000472476" "ITGB3" "0000472477" "ITGB3" "0000472478" "ITGB3" "0000472479" "ITGB3" "0000472480" "ITGB3" "0000472481" "ITGB3" "0000472482" "ITGB3" "0000472483" "ITGB3" "0000472484" "ITGB3" "0000472485" "ITGB3" "0000472486" "ITGB3" "0000472487" "ITGB3" "0000472488" "ITGB3" "0000472489" "ITGB3" "0000472490" "ITGB3" "0000472491" "ITGB3" "0000472492" "ITGB3" "0000472493" "ITGB3" "0000472512" "ITGB3" "0000472513" "ITGB3" "0000472514" "ITGB3" "0000472515" "ITGB3" "0000472534" "ITGB3" "0000472535" "ITGB3" "0000472536" "ITGB3" "0000472537" "ITGB3" "0000472538" "ITGB3" "0000472539" "ITGB3" "0000472540" "ITGB3" "0000472541" "ITGB3" "0000472542" "ITGB3" "0000472544" "ITGB3" "0000472546" "ITGB3" "0000472569" "ITGB3" "0000472570" "ITGB3" "0000472571" "ITGB3" "0000472572" "ITGB3" "0000472576" "ITGB3" "0000472577" "ITGB3" "0000472578" "ITGB3" "0000472580" "ITGB3" "0000472581" "ITGB3" "0000472582" "ITGB3" "0000472583" "ITGB3" "0000472584" "ITGB3" "0000472585" "ITGB3" "0000472586" "ITGB3" "0000472587" "ITGB3" "0000472588" "ITGB3" "0000472589" "ITGB3" "0000472610" "ITGB3" "0000472611" "ITGB3" "0000472613" "ITGB3" "0000472614" "ITGB3" "0000472615" "ITGB3" "0000472619" "ITGB3" "0000472628" "ITGB3" "0000472634" "ITGB3" "0000472636" "ITGB3" "0000472638" "ITGB3" "0000472640" "ITGB3" "0000472645" "ITGB3" "0000472649" "ITGB3" "0000472651" "ITGB3" "0000472652" "ITGB3" "0000472654" "ITGB3" "0000472655" "ITGB3" "0000472659" "ITGB3" "0000472660" "ITGB3" "0000472661" "ITGB3" "0000472668" "ITGB3" "0000472670" "ITGB3" "0000472674" "ITGB3" "0000472675" "ITGB3" "0000472679" "ITGB3" "0000472728" "ITGB3" "0000472732" "ITGB3" "0000472733" "ITGB3" "0000472743" "ITGB3" "0000472745" "ITGB3" "0000472748" "ITGB3" "0000472751" "ITGA2B" "0000472753" "ITGB3" "0000472756" "ITGB3" "0000472758" "ITGA2B" "0000472761" "ITGB3" "0000472762" "ITGB3" "0000472772" "ITGB3" "0000472773" "ITGB3" "0000472779" "ITGB3" "0000472782" "ITGB3" "0000472784" "ITGB3" "0000472785" "ITGB3" "0000472786" "ITGB3" "0000472787" "ITGB3" "0000472791" "ITGB3" "0000472792" "ITGB3" "0000472795" "ITGB3" "0000472798" "ITGB3" "0000472804" "ITGB3" "0000472805" "ITGB3" ## 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 = 231 "{{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}}" "0000248694" "0" "10" "17" "45368337" "45368337" "subst" "0.38618" "02325" "ITGB3_000001" "g.45368337A>C" "" "" "" "ITGB3(NM_000212.3):c.1143A>C (p.V381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47290971A>C" "" "benign" "" "0000248695" "0" "10" "17" "45369777" "45369777" "subst" "0.285563" "02325" "ITGB3_000003" "g.45369777A>G" "" "" "" "ITGB3(NM_000212.3):c.1533A>G (p.E511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292411A>G" "" "benign" "" "0000289768" "0" "50" "17" "45369757" "45369757" "subst" "4.07216E-6" "01943" "ITGB3_000002" "g.45369757C>T" "" "" "" "ITGB3(NM_000212.2):c.1513C>T (p.R505C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292391C>T" "" "VUS" "" "0000289769" "0" "10" "17" "45369788" "45369788" "subst" "0.00264032" "01943" "ITGB3_000004" "g.45369788G>A" "" "" "" "ITGB3(NM_000212.2):c.1544G>A (p.R515Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292422G>A" "" "benign" "" "0000338125" "0" "10" "17" "45385012" "45385012" "subst" "0.429796" "02327" "ITGB3_000009" "g.45385012C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47307646C>T" "" "benign" "" "0000340106" "0" "10" "17" "45368337" "45368337" "subst" "0.38618" "02327" "ITGB3_000001" "g.45368337A>C" "" "" "" "ITGB3(NM_000212.3):c.1143A>C (p.V381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47290971A>C" "" "benign" "" "0000340107" "0" "10" "17" "45369777" "45369777" "subst" "0.285563" "02327" "ITGB3_000003" "g.45369777A>G" "" "" "" "ITGB3(NM_000212.3):c.1533A>G (p.E511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292411A>G" "" "benign" "" "0000340108" "0" "10" "17" "45369789" "45369789" "subst" "0.28557" "02327" "ITGB3_000008" "g.45369789G>A" "" "" "" "ITGB3(NM_000212.3):c.1545G>A (p.R515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292423G>A" "" "benign" "" "0000347250" "0" "10" "17" "45360730" "45360730" "subst" "0.12126" "02327" "ITGB3_000005" "g.45360730T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47283364T>C" "" "benign" "" "0000349000" "0" "50" "17" "45369509" "45369509" "subst" "0" "02327" "ITGB3_000006" "g.45369509G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292143G>A" "" "VUS" "" "0000350542" "0" "50" "17" "45369577" "45369577" "subst" "0.000158404" "02327" "ITGB3_000007" "g.45369577G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47292211G>A" "" "VUS" "" "0000562092" "0" "30" "17" "45331299" "45331299" "subst" "0.000553737" "02326" "ITGB3_000010" "g.45331299C>T" "" "" "" "ITGB3(NM_000212.2):c.72C>T (p.G24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47253933C>T" "" "likely benign" "" "0000562093" "0" "10" "17" "45369789" "45369789" "subst" "0.28557" "02325" "ITGB3_000008" "g.45369789G>A" "" "" "" "ITGB3(NM_000212.3):c.1545G>A (p.R515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47292423G>A" "" "benign" "" "0000616650" "0" "70" "17" "45384980" "45384980" "subst" "0" "02327" "ITGB3_000011" "g.45384980C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47307614C>T" "" "likely pathogenic" "" "0000649628" "1" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "03575" "ITGB3_000012" "g.45361875T>G" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121918452}" "Germline" "" "rs121918452" "0" "" "" "g.47284509T>G" "" "pathogenic" "" "0000669405" "3" "30" "17" "45388209" "45388209" "subst" "0" "03575" "ITGB3_000013" "g.45388209G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs17225109}" "Germline" "" "rs17225109" "0" "" "" "g.47310843G>A" "" "likely benign" "" "0000680909" "0" "50" "17" "45368429" "45368429" "subst" "0" "02327" "ITGB3_000014" "g.45368429G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692384" "0" "50" "17" "45369541" "45369541" "subst" "2.43752E-5" "02327" "ITGB3_000015" "g.45369541C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692385" "0" "30" "17" "45369924" "45369924" "subst" "0" "02327" "ITGB3_000016" "g.45369924G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726473" "0" "10" "17" "45360896" "45360896" "subst" "0.00422975" "02327" "ITGB3_000017" "g.45360896T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000759740" "0" "70" "17" "45367568" "45367573" "del" "0" "03779" "ITGB3_000019" "g.45367568_45367573del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000760006" "0" "50" "17" "45369820" "45369820" "subst" "2.87017E-5" "00000" "ITGB3_000020" "g.45369820G>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.47292454G>C" "" "VUS" "" "0000760069" "0" "50" "17" "45364443" "45364443" "subst" "0" "00000" "ITGB3_000018" "g.45364443T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.47287077T>C" "" "VUS" "" "0000808058" "0" "50" "17" "45362004" "45362004" "subst" "0.000523926" "02327" "ITGB3_000021" "g.45362004C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854970" "0" "30" "17" "45369775" "45369775" "subst" "2.44493E-5" "01943" "ITGB3_000022" "g.45369775G>A" "" "" "" "ITGB3(NM_000212.2):c.1531G>A (p.E511K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854971" "0" "30" "17" "45377906" "45377906" "subst" "4.46769E-5" "01943" "ITGB3_000023" "g.45377906G>A" "" "" "" "ITGB3(NM_000212.2):c.1976G>A (p.R659H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000878563" "0" "70" "17" "45361929" "45361929" "subst" "0" "03779" "ITGB3_000024" "g.45361929G>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000914872" "0" "10" "17" "45377825" "45377825" "subst" "0.0882384" "02327" "ITGB3_000025" "g.45377825T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930802" "0" "70" "17" "45369700" "45369700" "subst" "0" "02327" "ITGB3_000026" "g.45369700T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950934" "0" "10" "17" "45331267" "45331267" "subst" "0.000832151" "02326" "ITGB3_000027" "g.45331267G>A" "" "" "" "ITGB3(NM_000212.2):c.40G>A (p.V14M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950935" "0" "70" "17" "45363761" "45363761" "subst" "0" "02326" "ITGB3_000028" "g.45363761T>A" "" "" "" "ITGB3(NM_000212.2):c.750T>A (p.D250E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950936" "0" "30" "17" "45387528" "45387528" "subst" "4.46744E-5" "02326" "ITGB3_000029" "g.45387528G>A" "" "" "" "ITGB3(NM_000212.2):c.2325G>A (p.E775=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982576" "0" "70" "17" "45360907" "45360907" "subst" "0" "01804" "ITGB3_000030" "g.45360907T>A" "" "" "" "ITGB3(NM_000212.3):c.353T>A (p.(Leu118His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982577" "0" "50" "17" "45361815" "45361815" "subst" "1.62444E-5" "01804" "ITGB3_000031" "g.45361815C>T" "" "" "" "ITGB3(NM_000212.3):c.368C>T (p.(Ser123Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982578" "0" "50" "17" "45367092" "45367092" "subst" "0.00013401" "01804" "ITGB3_000032" "g.45367092A>G" "" "" "" "ITGB3(NM_000212.3):c.985A>G (p.(Asn329Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982579" "0" "50" "17" "45367132" "45367132" "subst" "4.87417E-5" "01804" "ITGB3_000033" "g.45367132A>G" "" "" "" "ITGB3(NM_000212.3):c.1025A>G (p.(Asn342Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982580" "0" "50" "17" "45369546" "45369546" "subst" "0" "01804" "ITGB3_000034" "g.45369546G>C" "" "" "" "ITGB3(NM_000212.3):c.1302G>C (p.(Gln434His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982581" "0" "90" "17" "45369883" "45369883" "subst" "0" "01804" "ITGB3_000035" "g.45369883T>G" "" "" "" "ITGB3(NM_000212.3):c.1639T>G (p.(Cys547Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982582" "0" "30" "17" "45376914" "45376914" "subst" "1.6492E-5" "02326" "ITGB3_000036" "g.45376914A>G" "" "" "" "ITGB3(NM_000212.2):c.1913+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987867" "3" "90" "17" "45376767" "45376785" "delins" "0" "04716" "ITGB3_000037" "g.45376767_45376785delinsGTCACA" "" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "" "1784–1802delinsGTCACA" "" "Germline" "yes" "" "0" "" "" "g.47299401_47299419delinsGTCACA" "" "pathogenic" "" "0000987884" "3" "90" "17" "45376767" "45376785" "delins" "0" "04716" "ITGB3_000037" "g.45376767_45376785delinsGTCACA" "" "{PMID:Li 2024:34404052}, {DOI:Li 2024:10.1159/000517050}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47299401_47299419delinsGTCACA" "" "pathogenic (recessive)" "" "0001003356" "0" "50" "17" "45368350" "45368350" "subst" "2.03049E-5" "01804" "ITGB3_000038" "g.45368350C>T" "" "" "" "ITGB3(NM_000212.2):c.1156C>T (p.(Arg386Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003357" "0" "50" "17" "45376842" "45376842" "subst" "0" "01804" "ITGB3_000039" "g.45376842A>G" "" "" "" "ITGB3(NM_000212.2):c.1859A>G (p.(Tyr620Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003358" "0" "50" "17" "45387560" "45387560" "subst" "1.21865E-5" "01804" "ITGB3_000040" "g.45387560G>A" "" "" "" "ITGB3(NM_000212.2):c.2357G>A (p.(Arg786Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041934" "0" "30" "17" "45360839" "45360839" "subst" "0.000312838" "01804" "ITGB3_000041" "g.45360839C>T" "" "" "" "ITGB3(NM_000212.3):c.285C>T (p.(Leu95=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041935" "0" "50" "17" "45376833" "45376833" "subst" "6.09276E-5" "01804" "ITGB3_000042" "g.45376833C>T" "" "" "" "ITGB3(NM_000212.3):c.1850C>T (p.(Pro617Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041936" "0" "50" "17" "45384939" "45384939" "subst" "0" "01804" "ITGB3_000043" "g.45384939C>T" "" "" "" "ITGB3(NM_000212.3):c.2237C>T (p.(Thr746Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041937" "0" "90" "17" "45384950" "45384950" "subst" "3.65545E-5" "01804" "ITGB3_000044" "g.45384950C>T" "" "" "" "ITGB3(NM_000212.3):c.2248C>T (p.(Arg750*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045048" "0" "70" "17" "45385008" "45385008" "subst" "0" "03779" "ITGB3_000045" "g.45385008G>A" "" "" "" "" "" "Unknown" "" "rs2547623844" "0" "" "" "" "" "likely pathogenic" "" "0001056061" "0" "50" "17" "45377915" "45377915" "subst" "2.84333E-5" "01804" "ITGB3_000046" "g.45377915G>A" "" "" "" "ITGB3(NM_000212.3):c.1985G>A (p.(Arg662His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061016" "3" "90" "17" "45363730" "45363730" "subst" "0" "00006" "ITGB3_000047" "g.45363730G>A" "" "{PMID:Bajt 1992:1371279}" "" "G>A R214Q" "" "Germline" "" "rs121918444" "0" "" "" "g.47286364G>A" "" "pathogenic (recessive)" "" "0001061018" "3" "90" "17" "45363729" "45363729" "subst" "1.23067E-5" "00006" "ITGB3_000048" "g.45363729C>T" "" "{PMID:Lanza 1992:1602006}" "" "738C>T (Arg214Trp)" "" "Germline" "" "rs121918446" "0" "" "" "g.47286363C>T" "" "pathogenic (recessive)" "" "0001061019" "3" "90" "17" "45361880" "45361880" "subst" "0" "00006" "ITGB3_000049" "g.45361880G>T" "" "{PMID:Loftus 1990:2392682}" "" "(D119Y)" "" "Germline" "" "rs121918445" "0" "" "" "g.47284514G>T" "" "pathogenic (recessive)" "" "0001061020" "1" "90" "17" "45387535" "45387535" "subst" "0" "00006" "ITGB3_000050" "g.45387535T>C" "" "{PMID:Chen 1992:1438206}" "" "2259C>T (Ser752Pro)" "variant 2nd chromosome not reported (allele not expressed on mRNA level)" "Germline" "" "rs121918447" "0" "" "" "g.47310169T>C" "" "pathogenic (recessive)" "" "0001061022" "0" "50" "17" "45361953" "45361953" "subst" "0.00228628" "00006" "ITGB3_000051" "g.45361953G>A" "" "{PMID:Wang 1992:1430225}, {PMID:Shibata 1986:3798869}" "" "526G>A (Arg143Gln)" "Pen(a)/Pen(b) platelet alloantigen system implicated in fetomaternal alloimmune thrombocytopenia-1 (FMAIT1) and posttransfusion thrombocytopenic purpura" "Germline" "" "" "0" "" "" "g.47284587G>A" "" "VUS" "" "0001061024" "0" "50" "17" "45360730" "45360730" "subst" "0.12126" "00006" "ITGB3_000005" "g.45360730T>C" "" "{PMID:Newman 1989:2565345}" "" "196T>C (Leu33Pro)" "" "Germline" "" "rs5918" "0" "" "" "g.47283364T>C" "" "VUS" "" "0001061025" "10" "50" "17" "45369541" "45369541" "subst" "2.43752E-5" "00006" "ITGB3_000052" "g.45369541C>G" "" "{PMID:Kuipers 1993:8093349}" "" "1267C>G (Pro407Ala)" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "rs121918448" "0" "" "" "g.47292175C>G" "" "pathogenic (paternal)" "" "0001061026" "3" "90" "17" "45351870" "45351871" "delins" "0" "00006" "ITGB3_000053" "g.45351870_45351871delinsTT" "" "{PMID:Simsek 1993:8471765}" "" "3450_34501GG>TT" "" "Germline" "" "" "0" "" "" "g.47274504_47274505delinsTT" "" "pathogenic (recessive)" "" "0001061027" "3" "50" "17" "45351866" "45351866" "subst" "0" "00006" "ITGB3_000054" "g.45351866A>C" "" "{PMID:Simsek 1993:8471765}" "" "" "" "Germline" "" "" "0" "" "" "g.47274500A>C" "" "VUS" "" "0001061029" "0" "50" "17" "45369788" "45369788" "subst" "0.00264032" "00006" "ITGB3_000004" "g.45369788G>A" "" "{PMID:Wang 1993:7694683}" "" "1564G>A (Arg489Gln)" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.47292422G>A" "" "pathogenic (paternal)" "" "0001061030" "1" "30" "17" "45369789" "45369789" "subst" "0.28557" "00006" "ITGB3_000008" "g.45369789G>A" "10/27 controls" "{PMID:Wang 1993:7694683}" "" "" "" "Germline" "" "" "0" "" "" "g.47292423G>A" "" "likely benign" "" "0001061031" "1" "30" "17" "45369789" "45369789" "subst" "0.28557" "00006" "ITGB3_000008" "g.45369789G>A" "" "{PMID:Wang 1993:7694683}" "" "" "" "Germline" "" "" "0" "" "" "g.47292423G>A" "" "likely benign" "" "0001061032" "2" "50" "17" "45369788" "45369788" "subst" "0.00264032" "00006" "ITGB3_000004" "g.45369788G>A" "" "{PMID:Wang 1993:7694683}" "" "1564G>A (Arg489Gln)" "" "Germline" "" "" "0" "" "" "g.47292422G>A" "" "pathogenic (!)" "" "0001061033" "1" "50" "17" "45369788" "45369788" "subst" "0.00264032" "00006" "ITGB3_000004" "g.45369788G>A" "" "{PMID:Wang 1993:7694683}" "" "" "" "Germline" "" "" "0" "" "" "g.47292422G>A" "" "pathogenic (!)" "" "0001061034" "0" "30" "17" "45369789" "45369789" "subst" "0" "00006" "ITGB3_000055" "g.45369789G>C" "" "{PMID:Wang 1993:7694683}" "" "" "" "Germline" "" "" "0" "" "" "g.47292423G>C" "" "likely benign" "" "0001061036" "3" "90" "17" "45368393" "45368393" "subst" "0" "00006" "ITGB3_000056" "g.45368393G>A" "" "{PMID:Grimaldi 1996:8781422}" "" "1219G>A Cys374Tyr" "" "Germline" "" "" "0" "" "" "g.47291027G>A" "" "pathogenic (recessive)" "" "0001061037" "3" "90" "17" "45380103" "45380113" "del" "0" "00006" "ITGB3_000121" "g.45380103_45380113del" "" "{PMID:Newman 1991:2014236}" "" "" "" "Germline" "" "" "0" "" "" "g.47302737_47302747del" "" "pathogenic (recessive)" "" "0001061038" "3" "90" "17" "45380103" "45380113" "del" "0" "00006" "ITGB3_000121" "g.45380103_45380113del" "" "{PMID:Newman 1991:2014236}" "" "" "" "Germline" "" "" "0" "" "" "g.47302737_47302747del" "" "pathogenic (recessive)" "" "0001061039" "3" "90" "17" "45380103" "45380113" "del" "0" "00006" "ITGB3_000121" "g.45380103_45380113del" "" "{PMID:Newman 1991:2014236}" "" "" "" "Germline" "" "" "0" "" "" "g.47302737_47302747del" "" "pathogenic (recessive)" "" "0001061040" "3" "90" "17" "45380103" "45380113" "del" "0" "00006" "ITGB3_000121" "g.45380103_45380113del" "" "{PMID:Newman 1991:2014236}" "" "" "" "Germline" "" "" "0" "" "" "g.47302737_47302747del" "" "pathogenic (recessive)" "" "0001061041" "3" "90" "17" "45380103" "45380113" "del" "0" "00006" "ITGB3_000121" "g.45380103_45380113del" "" "{PMID:Newman 1991:2014236}" "" "" "" "Germline" "" "" "0" "" "" "g.47302737_47302747del" "" "pathogenic (recessive)" "" "0001061042" "3" "90" "17" "45380103" "45380113" "del" "0" "00006" "ITGB3_000121" "g.45380103_45380113del" "" "{PMID:Newman 1991:2014236}" "" "" "" "Germline" "" "" "0" "" "" "g.47302737_47302747del" "" "pathogenic (recessive)" "" "0001061046" "3" "90" "17" "45374812" "45384865" "del" "0" "00006" "ITGB3_000115" "g.45374812_45384865del" "" "{PMID:Rosenberg 1997:9160670}" "" "del ex10-13" "" "Germline" "" "" "0" "" "" "g.47297446_47307499del" "" "pathogenic (recessive)" "" "0001061047" "3" "90" "17" "45374812" "45384865" "del" "0" "00006" "ITGB3_000115" "g.45374812_45384865del" "" "{PMID:Rosenberg 1997:9160670}" "" "del ex10-13" "" "Germline" "" "" "0" "" "" "g.47297446_47307499del" "" "pathogenic (recessive)" "" "0001061048" "3" "90" "17" "45374812" "45384865" "del" "0" "00006" "ITGB3_000115" "g.45374812_45384865del" "" "{PMID:Rosenberg 1997:9160670}" "" "del ex10-13" "" "Germline" "" "" "0" "" "" "g.47297446_47307499del" "" "pathogenic (recessive)" "" "0001061049" "21" "90" "17" "45384950" "45384950" "subst" "3.65545E-5" "00006" "ITGB3_000044" "g.45384950C>T" "" "{PMID:Wang 1997:9351872}" "" "C2268T (Arg724Ter)" "" "Germline" "" "" "0" "" "" "g.47307584C>T" "" "pathogenic (recessive)" "" "0001061050" "10" "90" "17" "45376774" "45376774" "del" "0" "00006" "ITGB3_000057" "g.45376774del" "" "{PMID:Wang 1997:9351872}" "" "T1811del" "no mRNA of allele detected" "Germline/De novo (untested)" "" "" "0" "" "" "g.47299408del" "" "pathogenic (recessive)" "" "0001061051" "3" "90" "17" "45377854" "45377854" "subst" "0" "00006" "ITGB3_000058" "g.45377854G>T" "" "{PMID:Ferrer 1998:9845537}" "" "G1846T (Glu616stop)" "" "Germline" "" "rs121918451" "0" "" "" "g.47300488G>T" "" "pathogenic (recessive)" "" "0001061065" "3" "50" "17" "45360706" "45360706" "subst" "4.07515E-6" "00006" "ITGB3_000084" "g.45360706C>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47283340C>A" "" "VUS" "" "0001061066" "1" "90" "17" "45360816" "45360816" "subst" "0" "00006" "ITGB3_000062" "g.45360816C>T" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47283450C>T" "" "pathogenic (recessive)" "" "0001061067" "3" "90" "17" "45351858" "45351858" "del" "0" "00006" "ITGB3_000083" "g.45351858del" "" "{PMID:Peretz 2006:16463284}" "" "153delG" "" "Germline" "" "" "0" "" "" "g.47274492del" "" "pathogenic (recessive)" "" "0001061068" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061069" "1" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061070" "3" "90" "17" "45351820" "45351820" "subst" "0" "00006" "ITGB3_000082" "g.45351820T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47274454T>G" "" "pathogenic (recessive)" "" "0001061071" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061072" "3" "90" "17" "45363663" "45363663" "subst" "0" "00006" "ITGB3_000097" "g.45363663C>T" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47286297C>T" "" "pathogenic (recessive)" "" "0001061073" "3" "90" "17" "45384889" "45384894" "delins" "0" "00006" "ITGB3_000124" "g.45384889_45384894delinsTCATTG" "" "{PMID:Peretz 2006:16463284}" "" "[2186_2187insT;2191_2192delCTinsG;2201_2206delGCCTTG]" "two variants in cis, pathogenicity reported for combination" "Germline" "" "" "0" "" "" "g.47307523_47307528delinsTCATTG" "" "pathogenic (!)" "" "0001061074" "3" "90" "17" "45364579" "45364579" "subst" "0" "00006" "ITGB3_000106" "g.45364579C>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47287213C>A" "" "pathogenic (recessive)" "" "0001061075" "3" "90" "17" "45364579" "45364579" "subst" "0" "00006" "ITGB3_000106" "g.45364579C>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47287213C>A" "" "pathogenic (recessive)" "" "0001061076" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061077" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061078" "3" "90" "17" "45369646" "45369646" "subst" "0" "00006" "ITGB3_000112" "g.45369646G>T" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47292280G>T" "" "pathogenic (recessive)" "" "0001061079" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061080" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061081" "3" "90" "17" "45360910" "45360910" "subst" "1.63673E-5" "00006" "ITGB3_000090" "g.45360910G>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47283544G>A" "" "pathogenic (recessive)" "" "0001061082" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061083" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061084" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061085" "3" "90" "17" "45364579" "45364579" "subst" "0" "00006" "ITGB3_000106" "g.45364579C>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47287213C>A" "" "pathogenic (recessive)" "" "0001061086" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061087" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061088" "3" "90" "17" "45361875" "45361875" "subst" "2.03041E-5" "00006" "ITGB3_000012" "g.45361875T>G" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47284509T>G" "" "pathogenic (recessive)" "" "0001061090" "2" "90" "17" "45360910" "45360910" "subst" "1.63673E-5" "00006" "ITGB3_000090" "g.45360910G>A" "" "{PMID:Peretz 2006:16463284}" "" "" "" "Germline" "" "" "0" "" "" "g.47283544G>A" "" "pathogenic (recessive)" "" "0001061091" "2" "90" "17" "45369505" "45369505" "subst" "0" "00006" "ITGB3_000059" "g.45369505G>A" "" "{PMID:Peretz 2006:16463284}" "" "Val422Met" "" "Germline" "" "" "0" "" "" "g.47292139G>A" "" "pathogenic (recessive)" "" "0001061092" "3" "90" "17" "45384903" "45384908" "del" "0" "00006" "ITGB3_000125" "g.45384903_45384908del" "" "{PMID:Peretz 2006:16463284}" "" "[2186_2187insT;2191_2192delCTinsG;2201_2206delGCCTTG]" "two variants in cis, pathogenicity reported for combination" "Germline" "" "" "0" "" "" "g.47307537_47307542del" "" "pathogenic (!)" "" "0001061094" "3" "90" "17" "45360778" "45360778" "del" "4.06184E-6" "00006" "ITGB3_000088" "g.45360778del" "" "{PMID:D\'Andrea 2002:12083483}" "" "224Gdel" "" "Germline" "" "" "0" "" "" "g.47283412del" "" "pathogenic (recessive)" "" "0001061095" "1" "90" "17" "45360909" "45360909" "subst" "2.86207E-5" "00006" "ITGB3_000089" "g.45360909C>T" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47283543C>T" "" "pathogenic (recessive)" "" "0001061096" "1" "90" "17" "45360909" "45360909" "subst" "2.86207E-5" "00006" "ITGB3_000089" "g.45360909C>T" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47283543C>T" "" "pathogenic (recessive)" "" "0001061097" "3" "90" "17" "45363739" "45363739" "subst" "0" "00006" "ITGB3_000100" "g.45363739A>T" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47286373A>T" "" "pathogenic (recessive)" "" "0001061098" "1" "90" "17" "45376784" "45376784" "subst" "8.12209E-6" "00006" "ITGB3_000118" "g.45376784T>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.47299418T>C" "" "pathogenic (recessive)" "" "0001061099" "3" "90" "17" "45376784" "45376784" "subst" "8.12209E-6" "00006" "ITGB3_000118" "g.45376784T>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47299418T>C" "" "pathogenic (recessive)" "" "0001061100" "3" "90" "17" "45376784" "45376784" "subst" "8.12209E-6" "00006" "ITGB3_000118" "g.45376784T>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47299418T>C" "" "pathogenic (recessive)" "" "0001061101" "3" "90" "17" "45376784" "45376784" "subst" "8.12209E-6" "00006" "ITGB3_000118" "g.45376784T>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47299418T>C" "" "pathogenic (recessive)" "" "0001061119" "2" "90" "17" "45376784" "45376784" "subst" "8.12209E-6" "00006" "ITGB3_000118" "g.45376784T>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47299418T>C" "" "pathogenic (recessive)" "" "0001061120" "2" "90" "17" "45376784" "45376784" "subst" "8.12209E-6" "00006" "ITGB3_000118" "g.45376784T>C" "" "{PMID:D\'Andrea 2002:12083483}" "" "" "" "Germline" "" "" "0" "" "" "g.47299418T>C" "" "pathogenic (recessive)" "" "0001061128" "3" "90" "17" "45368454" "45368454" "subst" "1.21864E-5" "00006" "ITGB3_000060" "g.45368454G>A" "0/206 control chromosomes" "{PMID:Jin 1996:8878424}" "" "[1143C>A;1260G>A]" "effect on splicing only observed in combination with 1143A, not 1143C; authors describe \"intron 9 GTGAG\" insertion derived from initial misalignment mRNA reference to genomic sequence" "Germline" "" "" "0" "" "" "g.47291088G>A" "" "pathogenic (recessive)" "" "0001061129" "0" "10" "17" "45368454" "45368454" "subst" "1.21864E-5" "00006" "ITGB3_000060" "g.45368454G>A" "" "{PMID:Jin 1996:8878424}" "" "[1143A>C;1260G>A]" "analysis shows no effect on splicing only when combined with 1143C in cis" "In vitro (cloned)" "" "" "0" "" "" "g.47291088G>A" "" "NA" "" "0001061130" "0" "90" "17" "45368454" "45368454" "subst" "1.21864E-5" "00006" "ITGB3_000060" "g.45368454G>A" "" "{PMID:Jin 1996:8878424}" "" "[1143=;1260G>A]" "analysis shows effect on splicing only when combined with 1143A in cis" "In vitro (cloned)" "" "" "0" "" "" "g.47291088G>A" "" "NA" "" "0001061131" "0" "10" "17" "45368337" "45368337" "subst" "0.38618" "00006" "ITGB3_000001" "g.45368337A>C" "" "{PMID:Zimrin 1990:2341395}" "TaqI+" "1159C/A" "" "Germline" "" "" "0" "" "" "g.47290971A>C" "" "benign" "" "0001061132" "0" "10" "17" "45369789" "45369789" "subst" "0" "00006" "ITGB3_000055" "g.45369789G>C" "" "{PMID:Zimrin 1990:2341395}" "SmaI-" "1561G/C" "" "Germline" "" "" "0" "" "" "g.47292423G>C" "" "benign" "" "0001061133" "0" "10" "17" "45369777" "45369777" "subst" "0.285563" "00006" "ITGB3_000003" "g.45369777A>G" "" "{PMID:Zimrin 1990:2341395}" "" "1549A/G" "" "Germline" "" "" "0" "" "" "g.47292411A>G" "" "benign" "" "0001061153" "3" "90" "17" "45360718" "45360718" "subst" "0" "00006" "ITGB3_000085" "g.45360718A>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.47283352A>G" "" "pathogenic (recessive)" "" "0001061154" "3" "90" "17" "45351805" "45351805" "subst" "1.22062E-5" "00006" "ITGB3_000063" "g.45351805C>T" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.47274439C>T" "" "pathogenic (recessive)" "" "0001061155" "1" "90" "17" "45360745" "45360745" "subst" "0" "00006" "ITGB3_000087" "g.45360745G>A" "" "{PMID:Jallu 2010:20020534}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.47283379G>A" "" "pathogenic (recessive)" "" "0001061156" "3" "90" "17" "45361878" "45361878" "subst" "0" "00006" "ITGB3_000092" "g.45361878T>G" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.47284512T>G" "" "pathogenic (recessive)" "" "0001061157" "3" "90" "17" "45363676" "45363676" "subst" "4.10213E-6" "00006" "ITGB3_000061" "g.45363676T>C" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.47286310T>C" "" "pathogenic (recessive)" "" "0001061158" "1" "90" "17" "45363751" "45363751" "subst" "0" "00006" "ITGB3_000101" "g.45363751G>A" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.47286385G>A" "" "pathogenic (recessive)" "" "0001061159" "3" "90" "17" "45367643" "45367646" "del" "0" "00006" "ITGB3_000111" "g.45367643_45367646del" "" "{PMID:Jallu 2010:20020534}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.47290277_47290280del" "" "pathogenic (recessive)" "" "0001061160" "1" "90" "17" "45368454" "45368454" "subst" "1.21864E-5" "00006" "ITGB3_000060" "g.45368454G>A" "" "{PMID:Jallu 2010:20020534}" "" "[1143C>A;1260G>A]" "" "Germline" "" "" "0" "" "" "g.47291088G>A" "" "pathogenic (recessive)" "" "0001061166" "2" "90" "17" "45364494" "45364494" "subst" "4.06207E-6" "00006" "ITGB3_000103" "g.45364494A>T" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.47287128A>T" "" "pathogenic (recessive)" "" "0001061167" "2" "10" "17" "45368337" "45368337" "subst" "0.38618" "00006" "ITGB3_000001" "g.45368337A>C" "" "{PMID:Jallu 2010:20020534}" "" "" "" "Germline" "" "" "0" "" "" "g.47290971A>C" "" "benign" "" "0001061168" "21" "90" "17" "45363676" "45363676" "subst" "4.10213E-6" "00006" "ITGB3_000061" "g.45363676T>C" "" "{PMID:Nurden 2002:11897046}" "" "" "no variant 2nd chromosome; mother, sister and son carrier" "Germline" "" "" "0" "" "" "g.47286310T>C" "" "pathogenic (recessive)" "" "0001061170" "3" "90" "17" "45360816" "45360816" "subst" "0" "00006" "ITGB3_000062" "g.45360816C>T" "" "{PMID:Vinciguerra 1995:8571304}, {PMID:Negrier 1998:9450787}" "" "" "" "Germline" "" "" "0" "" "" "g.47283450C>T" "" "pathogenic (recessive)" "" "0001061172" "3" "90" "17" "45351805" "45351805" "subst" "1.22062E-5" "00006" "ITGB3_000063" "g.45351805C>T" "" "{PMID:Negrier 1998:9450787}" "" "C>T Arg8stop" "" "Germline" "yes" "" "0" "" "" "g.47274439C>T" "" "pathogenic (recessive)" "" "0001061207" "21" "90" "17" "45384947" "45384947" "subst" "0" "00006" "ITGB3_000064" "g.45384947G>C" "" "{PMID:Ghevaert 2008:18065693}" "" "" "" "Germline" "" "" "0" "" "" "g.47307581G>C" "" "pathogenic (dominant)" "" "0001061209" "21" "90" "17" "45380207" "45380207" "subst" "0" "00006" "ITGB3_000065" "g.45380207G>C" "" "{PMID:Gresele 2009:19336737}" "" "(D647_E686del)" "" "Germline" "yes" "" "0" "" "" "g.47302841G>C" "" "pathogenic (dominant)" "" "0001061210" "21" "90" "17" "45380207" "45380207" "subst" "0" "00006" "ITGB3_000065" "g.45380207G>C" "" "{PMID:Gresele 2009:19336737}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47302841G>C" "" "pathogenic (dominant)" "" "0001061211" "0" "90" "17" "45384933" "45384933" "subst" "0" "00006" "ITGB3_000066" "g.45384933T>C" "" "{PMID:Jayo 2010:20081061}" "" "T2231C (Leu718Pro)" "" "De novo" "" "" "0" "" "" "g.47307567T>C" "" "pathogenic (dominant)" "" "0001061212" "0" "10" "17" "45385012" "45385012" "subst" "0.429796" "00006" "ITGB3_000009" "g.45385012C>T" "" "{PMID:Jayo 2010:20081061}" "" "IVS14+9C>T" "" "Germline" "" "" "0" "" "" "g.47307646C>T" "" "benign" "" "0001061218" "11" "90" "17" "45384933" "45384933" "subst" "0" "00006" "ITGB3_000066" "g.45384933T>C" "" "{PMID:Kobayashi 2013:23253071}" "" "L718P" "" "Germline" "yes" "" "0" "" "" "g.47307567T>C" "" "pathogenic (dominant)" "" "0001061222" "11" "50" "17" "45376801" "45376801" "subst" "4.06108E-6" "00006" "ITGB3_000067" "g.45376801G>T" "" "{PMID:Sachs 2012:22116617}" "" "Lys580Asn" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta; reduced binding Asn580 variant compared to wild-type αIIbβ3" "Germline" "" "" "0" "" "" "g.47299435G>T" "" "likely pathogenic (paternal)" "" "0001061223" "11" "50" "17" "45361934" "45361934" "subst" "0" "00006" "ITGB3_000068" "g.45361934A>C" "" "{PMID:Peterson 2010:19821948}" "" "K137Q" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.47284568A>C" "" "pathogenic (paternal)" "" "0001061224" "11" "50" "17" "45377890" "45377890" "subst" "0.000495444" "00006" "ITGB3_000069" "g.45377890G>A" "" "{PMID:Peterson 2010:19821948}" "" "" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.47300524G>A" "" "pathogenic (paternal)" "" "0001061226" "11" "50" "17" "45361968" "45361968" "subst" "0" "00006" "ITGB3_000070" "g.45361968A>G" "" "{PMID:Sullivan 2017:28518345}" "" "" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "rs879083962" "0" "" "" "g.47284602A>G" "" "pathogenic (paternal)" "" "0001061227" "10" "50" "17" "45361920" "45361920" "subst" "4.06075E-6" "00006" "ITGB3_000071" "g.45361920A>G" "" "{PMID:Holzwarth 2020:31859394}, {GenBank:MN624129}" "" "Gln132Arg" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.47284554A>G" "" "pathogenic (paternal)" "" "0001061228" "11" "50" "17" "45377906" "45377906" "subst" "4.46769E-5" "00006" "ITGB3_000023" "g.45377906G>A" "" "{PMID:Simsek 1997:9163597}" "" "1996G>A (Arg633His)" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.47300549G>A" "" "pathogenic (paternal)" "" "0001061229" "11" "10" "17" "45369789" "45369789" "subst" "0.28557" "00006" "ITGB3_000008" "g.45369789G>A" "" "{PMID:Simsek 1997:9163597}" "" "1565G>A (Arg489Arg)" "" "Germline" "" "" "0" "" "" "g.47292423G>A" "" "benign" "" "0001061230" "11" "10" "17" "45368337" "45368337" "subst" "0.38618" "00006" "ITGB3_000001" "g.45368337A>C" "" "{PMID:Simsek 1997:9163597}" "" "1163A>C (Val355Val)" "" "Germline" "" "" "0" "" "" "g.47290971A>C" "" "benign" "" "0001061231" "0" "50" "17" "45377914" "45377914" "subst" "4.46809E-5" "00006" "ITGB3_000072" "g.45377914C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47300548C>T" "" "pathogenic (paternal)" "" "0001061232" "0" "50" "17" "45360817" "45360817" "subst" "4.87452E-5" "00006" "ITGB3_000073" "g.45360817G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47283451G>A" "" "pathogenic (paternal)" "" "0001061233" "0" "50" "17" "45376895" "45376897" "del" "0" "00006" "ITGB3_000074" "g.45376895_45376897del" "" "" "" "1909_1911delAAG (Lys637del)" "" "Germline" "" "" "0" "" "" "1912_1913+1del" "" "pathogenic (paternal)" "" "0001061234" "0" "50" "17" "45361944" "45361944" "subst" "0" "00006" "ITGB3_000075" "g.45361944C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47284578C>T" "" "pathogenic (paternal)" "" "0001061235" "0" "50" "17" "45363673" "45363673" "subst" "3.28151E-5" "00006" "ITGB3_000076" "g.45363673C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47286307C>T" "" "pathogenic (paternal)" "" "0001061236" "0" "50" "17" "45377872" "45377872" "subst" "1.21833E-5" "00006" "ITGB3_000077" "g.45377872C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47300506C>T" "" "pathogenic (paternal)" "" "0001061237" "0" "50" "17" "45351803" "45351803" "subst" "1.22089E-5" "00006" "ITGB3_000078" "g.45351803C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.47274437C>T" "" "pathogenic (paternal)" "" "0001061256" "10" "70" "17" "45376854" "45376854" "subst" "0" "00006" "ITGB3_000079" "g.45376854G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47299488G>A" "" "likely pathogenic (recessive)" "" "0001061259" "3" "90" "17" "45376897" "45376897" "subst" "0" "00006" "ITGB3_000119" "g.45376897G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47299531G>A" "" "pathogenic (recessive)" "" "0001061260" "1" "70" "17" "45360907" "45360907" "subst" "0" "00006" "ITGB3_000030" "g.45360907T>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47283541T>A" "" "likely pathogenic (recessive)" "" "0001061262" "1" "70" "17" "45362012" "45362012" "subst" "1.21846E-5" "00006" "ITGB3_000094" "g.45362012C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47284646C>T" "" "likely pathogenic (recessive)" "" "0001061263" "3" "70" "17" "45367047" "45367047" "subst" "0" "00006" "ITGB3_000108" "g.45367047G>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47289681G>T" "" "likely pathogenic (recessive)" "" "0001061264" "1" "70" "17" "45360741" "45360741" "subst" "2.03212E-5" "00006" "ITGB3_000086" "g.45360741C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47283375C>T" "" "likely pathogenic (recessive)" "" "0001061268" "3" "70" "17" "45362012" "45362012" "subst" "1.21846E-5" "00006" "ITGB3_000094" "g.45362012C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47284646C>T" "" "likely pathogenic (recessive)" "" "0001061277" "3" "70" "17" "45367138" "45367138" "subst" "0" "00006" "ITGB3_000109" "g.45367138A>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47289772A>C" "" "likely pathogenic (recessive)" "" "0001061283" "3" "90" "17" "45363789" "45363789" "subst" "8.61652E-5" "00006" "ITGB3_000102" "g.45363789G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47286423G>A" "" "pathogenic (recessive)" "" "0001061285" "1" "90" "17" "45360816" "45360816" "subst" "0" "00006" "ITGB3_000062" "g.45360816C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47283450C>T" "" "pathogenic (recessive)" "" "0001061287" "1" "70" "17" "45361839" "45361839" "subst" "4.06095E-6" "00006" "ITGB3_000091" "g.45361839G>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47284473G>C" "" "likely pathogenic (recessive)" "" "0001061289" "1" "90" "17" "45331307" "45331307" "subst" "0" "00006" "ITGB3_000081" "g.45331307G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47253941G>A" "" "pathogenic (recessive)" "" "0001061294" "3" "90" "17" "45362062" "45362062" "subst" "0" "00006" "ITGB3_000096" "g.45362062G>T" "" "{PMID:Nurden 2015:25728920}" "" "[614+1G>T;683G>A]" "variants in cis not classified individually" "Germline" "" "" "0" "" "" "g.47284696G>T" "" "pathogenic (recessive)" "" "0001061298" "1" "50" "17" "45367609" "45367609" "subst" "0" "00006" "ITGB3_000110" "g.45367609A>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47290243A>G" "" "VUS" "" "0001061300" "3" "90" "17" "45368454" "45368454" "subst" "1.21864E-5" "00006" "ITGB3_000060" "g.45368454G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47291088G>A" "" "pathogenic (recessive)" "" "0001061301" "1" "90" "17" "45364519" "45364519" "del" "0" "00006" "ITGB3_000104" "g.45364519del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47287153del" "" "pathogenic (recessive)" "" "0001061303" "1" "70" "17" "45360910" "45360910" "subst" "1.63673E-5" "00006" "ITGB3_000090" "g.45360910G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47283544G>A" "" "likely pathogenic (recessive)" "" "0001061304" "1" "70" "17" "45377949" "45377949" "subst" "0" "00006" "ITGB3_000120" "g.45377949G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47300583G>A" "" "likely pathogenic (recessive)" "" "0001061308" "3" "70" "17" "45376784" "45376784" "subst" "8.12209E-6" "00006" "ITGB3_000118" "g.45376784T>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47299418T>C" "" "likely pathogenic (recessive)" "" "0001061309" "3" "90" "17" "45360778" "45360778" "del" "4.06184E-6" "00006" "ITGB3_000088" "g.45360778del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47283412del" "" "pathogenic (recessive)" "" "0001061310" "3" "30" "17" "45331258" "45331258" "subst" "0" "00006" "ITGB3_000080" "g.45331258T>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47253892T>C" "" "likely benign" "" "0001061317" "3" "90" "17" "45362060" "45362063" "del" "0" "00006" "ITGB3_000095" "g.45362060_45362063del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47284694_47284697del" "" "pathogenic (recessive)" "" "0001061319" "1" "70" "17" "45364547" "45364547" "subst" "1.21951E-5" "00006" "ITGB3_000105" "g.45364547G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.47287181G>A" "" "likely pathogenic (recessive)" "" "0001061323" "1" "90" "17" "45360816" "45360816" "subst" "0" "00006" "ITGB3_000062" "g.45360816C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47283450C>T" "" "pathogenic (recessive)" "" "0001061324" "1" "70" "17" "45361839" "45361839" "subst" "4.06095E-6" "00006" "ITGB3_000091" "g.45361839G>C" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47284473G>C" "" "likely pathogenic (recessive)" "" "0001061328" "3" "90" "17" "45362062" "45362062" "subst" "0" "00006" "ITGB3_000096" "g.45362062G>T" "" "{PMID:Nurden 2015:25728920}" "" "[614+1G>T;683G>A]" "variants in cis not classified individually" "Germline" "" "" "0" "" "" "g.47284696G>T" "" "pathogenic (recessive)" "" "0001061330" "0" "90" "17" "45363720" "45363721" "del" "0" "00006" "ITGB3_000099" "g.45363720_45363721del" "" "{PMID:Nurden 2015:25728920}" "" "708_709del" "" "Germline" "" "" "0" "" "" "g.47286354_47286355del" "" "pathogenic (recessive)" "" "0001061331" "0" "70" "17" "45376715" "45376715" "subst" "3.24984E-5" "00006" "ITGB3_000117" "g.45376715G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47299349G>A" "" "likely pathogenic (recessive)" "" "0001061332" "2" "90" "17" "45380185" "45380185" "del" "0" "00006" "ITGB3_000122" "g.45380185del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47302819del" "" "pathogenic (recessive)" "" "0001061333" "2" "90" "17" "45361952" "45361952" "subst" "0" "00006" "ITGB3_000093" "g.45361952C>T" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47284586C>T" "" "pathogenic (recessive)" "" "0001061345" "2" "90" "17" "45380185" "45380185" "del" "0" "00006" "ITGB3_000122" "g.45380185del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47302819del" "" "pathogenic (recessive)" "" "0001061347" "2" "90" "17" "45363789" "45363789" "subst" "8.61652E-5" "00006" "ITGB3_000102" "g.45363789G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47286423G>A" "" "pathogenic (recessive)" "" "0001061350" "2" "90" "17" "45367045" "45367045" "subst" "0" "00006" "ITGB3_000107" "g.45367045A>G" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47289679A>G" "" "pathogenic (recessive)" "" "0001061352" "3" "70" "17" "45363694" "45363694" "subst" "4.10216E-6" "00006" "ITGB3_000098" "g.45363694G>A" "" "{PMID:Nurden 2015:25728920}" "" "[614+1G>T;683G>A]" "variants in cis not classified individually" "Germline" "" "" "0" "" "" "g.47286328G>A" "" "likely pathogenic (recessive)" "" "0001061354" "2" "90" "17" "45369766" "45369766" "del" "0" "00006" "ITGB3_000114" "g.45369766del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47292400del" "" "pathogenic (recessive)" "" "0001061356" "2" "90" "17" "45369700" "45369700" "del" "0" "00006" "ITGB3_000113" "g.45369700del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47292334del" "" "pathogenic (recessive)" "" "0001061357" "2" "70" "17" "45376680" "45376680" "subst" "0" "00006" "ITGB3_000116" "g.45376680G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47299314G>A" "" "likely pathogenic (recessive)" "" "0001061358" "2" "90" "17" "45384836" "45390077" "del" "0" "00006" "ITGB3_000123" "g.(45380207_45384836)_(45390077_?)del" "" "{PMID:Nurden 2015:25728920}" "" "del ex14-15" "" "Germline" "" "" "0" "" "" "g.(47302841_47307470)_(47312711_?)del" "" "pathogenic (recessive)" "" "0001061365" "2" "90" "17" "45380185" "45380185" "del" "0" "00006" "ITGB3_000122" "g.45380185del" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47302819del" "" "pathogenic (recessive)" "" "0001061366" "2" "90" "17" "45363789" "45363789" "subst" "8.61652E-5" "00006" "ITGB3_000102" "g.45363789G>A" "" "{PMID:Nurden 2015:25728920}" "" "" "" "Germline" "" "" "0" "" "" "g.47286423G>A" "" "pathogenic (recessive)" "" "0001061371" "3" "70" "17" "45363694" "45363694" "subst" "4.10216E-6" "00006" "ITGB3_000098" "g.45363694G>A" "" "{PMID:Nurden 2015:25728920}" "" "[614+1G>T;683G>A]" "variants in cis not classified individually" "Germline" "" "" "0" "" "" "g.47286328G>A" "" "likely pathogenic (recessive)" "" "0001061377" "0" "90" "17" "45360910" "45360910" "subst" "1.63673E-5" "00006" "ITGB3_000090" "g.45360910G>A" "" "{PMID:Kosaka 2025:41349512}" "" "" "in vitro expression analysis shows pronounced reduction in αIIb and β3 surface expression, loss of PAC-1 binding; authors suggest classification of variant as \"pathogenic\"" "In vitro (cloned)" "" "" "0" "" "" "g.47283544G>A" "" "NA" "" "0001061378" "0" "90" "17" "45360909" "45360909" "subst" "2.86207E-5" "00006" "ITGB3_000089" "g.45360909C>T" "" "{PMID:Kosaka 2025:41349512}" "" "" "in vitro expression analysis shows pronounced reduction in αIIb and β3 surface expression, loss of PAC-1 binding; authors suggest classification of variant as \"pathogenic\"" "In vitro (cloned)" "" "" "0" "" "" "g.47283543C>T" "" "NA" "" "0001061435" "1" "70" "17" "45364500" "45364500" "subst" "0" "00006" "ITGB3_000134" "g.45364500A>C" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.47287134A>C" "" "likely pathogenic (recessive)" "ACMG" "0001061438" "1" "90" "17" "45369769" "45369769" "del" "0" "00006" "ITGB3_000141" "g.45369769del" "" "{PMID:Zhou 2018:29675921}" "" "1525delC" "ACMG PVS1, PM1, PM2, PM3, PM4" "Germline" "" "" "0" "" "" "g.47292403del" "" "pathogenic (recessive)" "ACMG" "0001061439" "1" "90" "17" "45369769" "45369769" "del" "0" "00006" "ITGB3_000141" "g.45369769del" "" "{PMID:Zhou 2018:29675921}" "" "1525delC" "ACMG PVS1, PM1, PM2, PM3, PM4" "Germline" "" "" "0" "" "" "g.47292403del" "" "pathogenic (recessive)" "ACMG" "0001061448" "1" "90" "17" "45377910" "45377910" "subst" "0" "00006" "ITGB3_000147" "g.45377910C>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "" "0" "" "" "g.47300544C>A" "" "pathogenic (recessive)" "ACMG" "0001061450" "3" "70" "17" "45369739" "45369739" "subst" "0" "00006" "ITGB3_000140" "g.45369739T>C" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.47292373T>C" "" "likely pathogenic (recessive)" "ACMG" "0001061453" "1" "90" "17" "45376711" "45376711" "del" "0" "00006" "ITGB3_000144" "g.45376711del" "" "{PMID:Zhou 2018:29675921}" "" "1728delC" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "" "0" "" "" "g.47299345del" "" "pathogenic (recessive)" "ACMG" "0001061458" "3" "90" "17" "45363730" "45363730" "subst" "0" "00006" "ITGB3_000047" "g.45363730G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM3, PP2, PP3" "Germline" "" "rs121918444" "0" "" "" "g.47286364G>A" "" "pathogenic (recessive)" "ACMG" "0001061461" "1" "50" "17" "45376901" "45376901" "subst" "1.2269E-5" "00006" "ITGB3_000146" "g.45376901G>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM3, PP3, PP5; no variant second chromosome" "Germline" "" "" "0" "" "" "g.47299535G>T" "" "VUS" "ACMG" "0001061466" "1" "90" "17" "45376719" "45376719" "subst" "0" "00006" "ITGB3_000145" "g.45376719G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM2, PM3, PM4" "Germline" "" "" "0" "" "" "g.47299353G>A" "" "pathogenic (recessive)" "ACMG" "0001061467" "3" "90" "17" "45369544" "45369544" "del" "0" "00006" "ITGB3_000139" "g.45369544del" "" "{PMID:Zhou 2018:29675921}" "" "1300delC" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "" "0" "" "" "g.47292178del" "" "pathogenic (recessive)" "ACMG" "0001061472" "2" "90" "17" "45368393" "45368393" "subst" "0" "00006" "ITGB3_000056" "g.45368393G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PP2" "Germline" "" "rs121918449" "0" "" "" "g.47291027G>A" "" "pathogenic (recessive)" "ACMG" "0001061473" "2" "90" "17" "45368393" "45368393" "subst" "0" "00006" "ITGB3_000056" "g.45368393G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PP2" "Germline" "" "rs121918449" "0" "" "" "g.47291027G>A" "" "pathogenic (recessive)" "ACMG" "0001061474" "2" "90" "17" "45368393" "45368393" "subst" "0" "00006" "ITGB3_000056" "g.45368393G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PS3, PM1, PM2, PP2" "Germline" "" "rs121918449" "0" "" "" "g.47291027G>A" "" "pathogenic (recessive)" "ACMG" "0001061477" "2" "70" "17" "45384849" "45384849" "subst" "0" "00006" "ITGB3_000148" "g.45384849G>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.47307483G>T" "" "likely pathogenic (recessive)" "ACMG" "0001061480" "2" "90" "17" "45364550" "45364550" "subst" "0" "00006" "ITGB3_000136" "g.45364550C>T" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM2, PM3, PM4" "Germline" "" "" "0" "" "" "g.47287184C>T" "" "pathogenic (recessive)" "ACMG" "0001061482" "1" "70" "17" "45361859" "45361859" "subst" "0" "00006" "ITGB3_000129" "g.45361859G>A" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.47284493G>A" "" "likely pathogenic (recessive)" "ACMG" "0001061485" "2" "70" "17" "45369890" "45369890" "subst" "4.18302E-6" "00006" "ITGB3_000143" "g.45369890G>C" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.47292524G>C" "" "likely pathogenic (recessive)" "ACMG" "0001061488" "2" "90" "17" "45376767" "45376785" "delins" "0" "00006" "ITGB3_000037" "g.45376767_45376785delinsGTCACA" "" "{PMID:Zhou 2018:29675921}" "" "" "ACMG PVS1, PM1, PM2, PM4" "Germline" "" "" "0" "" "" "g.47299401_47299419delinsGTCACA" "" "pathogenic (recessive)" "ACMG" "0001061503" "0" "70" "17" "45331286" "45331286" "subst" "0" "00006" "ITGB3_000126" "g.45331286T>C" "" "{PMID:Kannan 2009:19691478}" "" "" "in cis with “promoter variant g.951G>A” (location not clear)" "Germline" "" "" "0" "" "" "g.47253920T>C" "" "likely pathogenic (recessive)" "" "0001061504" "0" "90" "17" "45384919" "45384919" "del" "0" "00006" "ITGB3_000149" "g.45384919del" "" "{PMID:Kannan 2009:19691478}" "" "2217delC" "" "Germline" "" "" "0" "" "" "g.47307553del" "" "pathogenic (recessive)" "" "0001061510" "3" "90" "17" "45363736" "45363736" "subst" "0" "00006" "ITGB3_000133" "g.45363736G>A" "" "{PMID:Kannan 2009:19691478}" "" "752G>A" "" "Germline" "" "" "0" "" "" "g.47286370G>A" "" "pathogenic (recessive)" "" "0001061513" "0" "70" "17" "45367060" "45367060" "subst" "4.06098E-6" "00006" "ITGB3_000137" "g.45367060T>C" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47289694T>C" "" "likely pathogenic (recessive)" "" "0001061515" "3" "70" "17" "45367138" "45367138" "subst" "0" "00006" "ITGB3_000138" "g.45367138A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47289772A>G" "" "likely pathogenic (recessive)" "" "0001061516" "3" "70" "17" "45387518" "45387518" "subst" "4.06147E-6" "00006" "ITGB3_000150" "g.45387518T>C" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47310152T>C" "" "likely pathogenic (recessive)" "" "0001061517" "3" "90" "17" "45363685" "45363685" "del" "0" "00006" "ITGB3_000132" "g.45363685del" "" "{PMID:Kannan 2009:19691478}" "" "674delA" "" "Germline" "" "" "0" "" "" "g.47286319del" "" "pathogenic (recessive)" "" "0001061518" "0" "90" "17" "45364545" "45364559" "del" "0" "00006" "ITGB3_000135" "g.45364545_45364559del" "" "{PMID:Kannan 2009:19691478}" "" "887_901delACGGGCAGTGTCATG" "" "Germline" "" "" "0" "" "" "g.47287179_47287193del" "" "pathogenic (recessive)" "" "0001061522" "0" "70" "17" "45351797" "45351797" "subst" "0" "00006" "ITGB3_000127" "g.45351797G>A" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47274431G>A" "" "likely pathogenic (recessive)" "" "0001061523" "0" "90" "17" "45364545" "45364559" "del" "0" "00006" "ITGB3_000135" "g.45364545_45364559del" "" "{PMID:Kannan 2009:19691478}" "" "887_901delACGGGCAGTGTCATG" "" "Germline" "" "" "0" "" "" "g.47287179_47287193del" "" "pathogenic (recessive)" "" "0001061526" "21" "70" "17" "45361862" "45361862" "subst" "0" "00006" "ITGB3_000130" "g.45361862G>C" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47284496G>C" "" "likely pathogenic (recessive)" "" "0001061529" "3" "90" "17" "45351860" "45351861" "delins" "0" "00006" "ITGB3_000128" "g.45351860_45351861delinsTT" "" "{PMID:Kannan 2009:19691478}" "" "155_156delGCinsTT" "in cis with “promoter variant g.951G>A” (location not clear)" "Germline" "" "" "0" "" "" "g.47274494_47274495delinsTT" "" "pathogenic (recessive)" "" "0001061535" "0" "70" "17" "45369885" "45369885" "subst" "0" "00006" "ITGB3_000142" "g.45369885C>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47292519C>G" "" "likely pathogenic (recessive)" "" "0001061536" "0" "90" "17" "45360910" "45360910" "subst" "1.63673E-5" "00006" "ITGB3_000090" "g.45360910G>A" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47283544G>A" "" "pathogenic (recessive)" "" "0001061539" "11" "90" "17" "45361869" "45361869" "subst" "0" "00006" "ITGB3_000131" "g.45361869A>G" "" "{PMID:Kannan 2009:19691478}" "" "" "" "Germline" "" "" "0" "" "" "g.47284503A>G" "" "pathogenic (recessive)" "" ## 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 ITGB3 ## Count = 231 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000248694" "00010204" "10" "1143" "0" "1143" "0" "c.1143A>C" "r.(?)" "p.(Val381=)" "" "" "0000248695" "00010204" "10" "1533" "0" "1533" "0" "c.1533A>G" "r.(?)" "p.(Glu511=)" "" "" "0000289768" "00010204" "50" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505Cys)" "" "" "0000289769" "00010204" "10" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515Gln)" "" "" "0000338125" "00010204" "10" "2301" "9" "2301" "9" "c.2301+9C>T" "r.(=)" "p.(=)" "" "" "0000340106" "00010204" "10" "1143" "0" "1143" "0" "c.1143A>C" "r.(?)" "p.(Val381=)" "" "" "0000340107" "00010204" "10" "1533" "0" "1533" "0" "c.1533A>G" "r.(?)" "p.(Glu511=)" "" "" "0000340108" "00010204" "10" "1545" "0" "1545" "0" "c.1545G>A" "r.(?)" "p.(Arg515=)" "" "" "0000347250" "00010204" "10" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "" "0000349000" "00010204" "50" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Ser422Asn)" "" "" "0000350542" "00010204" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Val445Met)" "" "" "0000562092" "00010204" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Gly24=)" "" "" "0000562093" "00010204" "10" "1545" "0" "1545" "0" "c.1545G>A" "r.(?)" "p.(Arg515=)" "" "" "0000616650" "00010204" "70" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760Cys)" "" "" "0000649628" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "" "" "0000669405" "00010204" "30" "3006" "0" "3006" "0" "c.*639G>A" "r.(=)" "p.(=)" "" "" "0000680909" "00010204" "50" "1235" "0" "1235" "0" "c.1235G>C" "r.(?)" "p.(Cys412Ser)" "" "" "0000692384" "00010204" "50" "1297" "0" "1297" "0" "c.1297C>G" "r.(?)" "p.(Pro433Ala)" "" "" "0000692385" "00010204" "30" "1680" "0" "1680" "0" "c.1680G>A" "r.(?)" "p.(Glu560=)" "" "" "0000726473" "00010204" "10" "342" "0" "342" "0" "c.342T>C" "r.(?)" "p.(Ile114=)" "" "" "0000759740" "00010204" "70" "1053" "0" "1058" "0" "c.1053_1058del" "r.(?)" "p.(Ile351_Gly353delinsMet)" "" "" "0000760006" "00010204" "50" "1576" "0" "1576" "0" "c.1576G>C" "r.(?)" "p.(Glu526Gln)" "" "" "0000760069" "00010204" "50" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Ile262Thr)" "" "" "0000808058" "00010204" "50" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Pro186Leu)" "" "" "0000854970" "00010204" "30" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Glu511Lys)" "" "" "0000854971" "00010204" "30" "1976" "0" "1976" "0" "c.1976G>A" "r.(?)" "p.(Arg659His)" "" "" "0000878563" "00010204" "70" "482" "0" "482" "0" "c.482G>T" "r.(?)" "p.(Gly161Val)" "" "" "0000914872" "00010204" "10" "1914" "-19" "1914" "-19" "c.1914-19T>C" "r.(=)" "p.(=)" "" "" "0000930802" "00010204" "70" "1456" "0" "1456" "0" "c.1456T>C" "r.(?)" "p.(Cys486Arg)" "" "" "0000950934" "00010204" "10" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Val14Met)" "" "" "0000950935" "00010204" "70" "750" "0" "750" "0" "c.750T>A" "r.(?)" "p.(Asp250Glu)" "" "" "0000950936" "00010204" "30" "2325" "0" "2325" "0" "c.2325G>A" "r.(?)" "p.(=)" "" "" "0000982576" "00010204" "70" "353" "0" "353" "0" "c.353T>A" "r.(?)" "p.(Leu118His)" "" "" "0000982577" "00010204" "50" "368" "0" "368" "0" "c.368C>T" "r.(?)" "p.(Ser123Leu)" "" "" "0000982578" "00010204" "50" "985" "0" "985" "0" "c.985A>G" "r.(?)" "p.(Asn329Asp)" "" "" "0000982579" "00010204" "50" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Asn342Ser)" "" "" "0000982580" "00010204" "50" "1302" "0" "1302" "0" "c.1302G>C" "r.(?)" "p.(Gln434His)" "" "" "0000982581" "00010204" "90" "1639" "0" "1639" "0" "c.1639T>G" "r.(?)" "p.(Cys547Gly)" "" "" "0000982582" "00010204" "30" "1913" "18" "1913" "18" "c.1913+18A>G" "r.(=)" "p.(=)" "" "" "0000987867" "00010204" "90" "1784" "0" "1802" "0" "c.1784_1802delinsGTCACA" "r.(?)" "p.(Ser595Cysfs*70)" "11" "" "0000987884" "00010204" "90" "1784" "0" "1802" "0" "c.1784_1802delinsGTCACA" "r.(?)" "p.(Ser595Cysfs*70)" "11" "" "0001003356" "00010204" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "" "0001003357" "00010204" "50" "1859" "0" "1859" "0" "c.1859A>G" "r.(?)" "p.(Tyr620Cys)" "" "" "0001003358" "00010204" "50" "2357" "0" "2357" "0" "c.2357G>A" "r.(?)" "p.(Arg786Gln)" "" "" "0001041934" "00010204" "30" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(=)" "" "" "0001041935" "00010204" "50" "1850" "0" "1850" "0" "c.1850C>T" "r.(?)" "p.(Pro617Leu)" "" "" "0001041936" "00010204" "50" "2237" "0" "2237" "0" "c.2237C>T" "r.(?)" "p.(Thr746Ile)" "" "" "0001041937" "00010204" "90" "2248" "0" "2248" "0" "c.2248C>T" "r.(?)" "p.(Arg750*)" "" "" "0001045048" "00010204" "70" "2301" "5" "2301" "5" "c.2301+5G>A" "r.(?)" "p.(?)" "" "" "0001056061" "00010204" "50" "1985" "0" "1985" "0" "c.1985G>A" "r.(?)" "p.(Arg662His)" "" "" "0001061016" "00010204" "90" "719" "0" "719" "0" "c.719G>A" "r.719G>A" "p.Arg240Gln" "" "" "0001061018" "00010204" "90" "718" "0" "718" "0" "c.718C>T" "r.718C>T" "p.Arg240Trp" "" "Strasbourg I" "0001061019" "00010204" "90" "433" "0" "433" "0" "c.433G>T" "r.433G>T" "p.Asp145Tyr" "" "" "0001061020" "00010204" "90" "2332" "0" "2332" "0" "c.2332T>C" "r.2332T>C" "p.Ser778Pro" "" "" "0001061022" "00010204" "50" "506" "0" "506" "0" "c.506G>A" "r.506G>A" "p.Arg169Gln" "" "HPA-4;Penb;Yaka" "0001061024" "00010204" "50" "176" "0" "176" "0" "c.176T>C" "r.176T>C" "p.Leu59Pro" "" "HPA-1;Pl(A2)" "0001061025" "00010204" "50" "1297" "0" "1297" "0" "c.1297C>G" "r.1297C>G" "p.Pro433Ala" "" "HPA-7;MO" "0001061026" "00010204" "90" "165" "0" "165" "1" "c.165_165+1delinsTT" "r.80_165del" "p.Gly27AspfsTer10" "2_2i" "" "0001061027" "00010204" "50" "161" "0" "161" "0" "c.161A>C" "-" "-" "2" "" "0001061029" "00010204" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.1544G>A" "p.Arg515Gln" "" "HPA-6;CA;TU" "0001061030" "00010204" "30" "1545" "0" "1545" "0" "c.1545G>A" "r.(1545G>A)" "p.(Arg515=)" "" "" "0001061031" "00010204" "30" "1545" "0" "1545" "0" "c.1545G>A" "r.(1545G>A)" "p.(Arg515=)" "" "" "0001061032" "00010204" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(1544G>A)" "p.(Arg515Gln)" "" "HPA-6;TU;CA" "0001061033" "00010204" "50" "1544" "0" "1544" "0" "c.1544G>A" "r.(1544G>A)" "p.(Arg515Gln)" "" "HPA-6;TU;CA" "0001061034" "00010204" "30" "1545" "0" "1545" "0" "c.1545G>C" "r.(1544G>C)" "p.(Arg515=)" "" "" "0001061036" "00010204" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.1199G>A" "p.Cys400Tyr" "" "" "0001061037" "00010204" "90" "2031" "0" "2041" "0" "c.2031_2041del" "r.2031_2041del" "p.Asp677GlufsTer4" "13" "" "0001061038" "00010204" "90" "2031" "0" "2041" "0" "c.2031_2041del" "r.2031_2041del" "p.Asp677GlufsTer4" "13" "" "0001061039" "00010204" "90" "2031" "0" "2041" "0" "c.2031_2041del" "r.2031_2041del" "p.Asp677GlufsTer4" "13" "" "0001061040" "00010204" "90" "2031" "0" "2041" "0" "c.2031_2041del" "r.2031_2041del" "p.Asp677GlufsTer4" "13" "" "0001061041" "00010204" "90" "2031" "0" "2041" "0" "c.2031_2041del" "r.2031_2041del" "p.Asp677GlufsTer4" "13" "" "0001061042" "00010204" "90" "2031" "0" "2041" "0" "c.2031_2041del" "r.2031_2041del" "p.Asp677GlufsTer4" "13" "" "0001061046" "00010204" "90" "1691" "-1862" "2163" "0" "c.1691-1862_2163del" "r.1691_2301del" "p.His565GlnfsTer6" "10i_13" "" "0001061047" "00010204" "90" "1691" "-1862" "2163" "0" "c.1691-1862_2163del" "r.1691_2301del" "p.His565GlnfsTer6" "10i_13" "" "0001061048" "00010204" "90" "1691" "-1862" "2163" "0" "c.1691-1862_2163del" "r.1691_2301del" "p.His565GlnfsTer6" "10i_13" "" "0001061049" "00010204" "90" "2248" "0" "2248" "0" "c.2248C>T" "r.2248C>T" "p.Arg750Ter" "" "" "0001061050" "00010204" "90" "1791" "0" "1791" "0" "c.1791del" "r.0" "p.0" "" "" "0001061051" "00010204" "90" "1924" "0" "1924" "0" "c.1924G>T" "r.1924G>T" "p.Glu642Ter" "" "" "0001061065" "00010204" "50" "166" "-14" "166" "-14" "c.166-14C>A" "r.spl?" "p.?" "2i" "" "0001061066" "00010204" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Ter)" "3" "" "0001061067" "00010204" "90" "153" "0" "153" "0" "c.153del" "r.(?)" "p.(Trp51CysfsTer16)" "2" "" "0001061068" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061069" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061070" "00010204" "90" "115" "0" "115" "0" "c.115T>G" "r.(?)" "p.(Cys39Gly)" "2" "" "0001061071" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061072" "00010204" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(His218Tyr)" "5" "" "0001061073" "00010204" "90" "2187" "0" "2192" "0" "c.2187_2192delinsTCATTG" "r.(?)" "p.(Ile730_Leu731delinsHisTrp)" "14" "" "0001061074" "00010204" "90" "921" "0" "921" "0" "c.921C>A" "r.(?)" "p.(Tyr307Ter)" "6" "" "0001061075" "00010204" "90" "921" "0" "921" "0" "c.921C>A" "r.(?)" "p.(Tyr307Ter)" "6" "" "0001061076" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061077" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061078" "00010204" "90" "1402" "0" "1402" "0" "c.1402G>T" "r.(?)" "p.(Glu468Ter)" "10" "" "0001061079" "00010204" "50" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061080" "00010204" "50" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061081" "00010204" "90" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "3" "" "0001061082" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061083" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061084" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061085" "00010204" "90" "921" "0" "921" "0" "c.921C>A" "r.(?)" "p.(Tyr307Ter)" "6" "" "0001061086" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061087" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061088" "00010204" "90" "428" "0" "428" "0" "c.428T>G" "r.(?)" "p.(Leu143Trp)" "4" "" "0001061090" "00010204" "90" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "3" "" "0001061091" "00010204" "90" "1261" "0" "1261" "0" "c.1261G>A" "r.spl?" "p.(Val421Met)" "9" "" "0001061092" "00010204" "90" "2201" "0" "2206" "0" "c.2201_2206del" "r.(?)" "p.(Gly734_Leu735del)" "14" "" "0001061094" "00010204" "90" "224" "0" "224" "0" "c.224delG" "r.(?)" "p.(Cys75LeufsTer10)" "3" "" "0001061095" "00010204" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Trp)" "3" "" "0001061096" "00010204" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Arg119Trp)" "3" "" "0001061097" "00010204" "90" "728" "0" "728" "0" "c.728A>T" "r.(?)" "p.(Asp243Val)" "5" "" "0001061098" "00010204" "90" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Cys601Arg)" "11" "" "0001061099" "00010204" "90" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Cys601Arg)" "11" "" "0001061100" "00010204" "90" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Cys601Arg)" "11" "" "0001061101" "00010204" "90" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Cys601Arg)" "11" "" "0001061119" "00010204" "90" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Cys601Arg)" "11" "" "0001061120" "00010204" "90" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Cys601Arg)" "11" "" "0001061128" "00010204" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.1126_1260del" "p.Lys376_Thr420del" "9" "" "0001061129" "00010204" "10" "1260" "0" "1260" "0" "c.1260G>A" "r.1260G>A" "p.Thr420=" "9" "" "0001061130" "00010204" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.1126_1260del" "p.Lys376_Thr420del" "9" "" "0001061131" "00010204" "10" "1143" "0" "1143" "0" "c.1143A>C" "r.(=)" "p.(Val381=)" "" "" "0001061132" "00010204" "10" "1545" "0" "1545" "0" "c.1545G>C" "r.(=)" "p.(Arg515=)" "" "" "0001061133" "00010204" "10" "1533" "0" "1533" "0" "c.1533A>G" "r.(=)" "p.(Glu511=)" "" "" "0001061153" "00010204" "90" "166" "-2" "166" "-2" "c.166-2A>G" "r.spl" "p.?" "2i" "" "0001061154" "00010204" "90" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Arg34Ter)" "2" "" "0001061155" "00010204" "90" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Cys64Tyr)" "3" "" "0001061156" "00010204" "90" "431" "0" "431" "0" "c.431T>G" "r.(?)" "p.(Met144Arg)" "4" "" "0001061157" "00010204" "90" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Leu222Pro)" "5" "" "0001061158" "00010204" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "5" "" "0001061159" "00010204" "90" "1125" "3" "1125" "6" "c.1125+3_1125+6del" "r.spl" "p.?" "8i" "" "0001061160" "00010204" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(1126_1260del)" "p.(Lys376_Thr420del)" "9" "" "0001061166" "00010204" "90" "836" "0" "836" "0" "c.836A>T" "r.(?)" "p.(Lys279Met)" "6" "" "0001061167" "00010204" "10" "1143" "0" "1143" "0" "c.1143A>C" "r.(?)" "p.(Val381=)" "9" "" "0001061168" "00010204" "90" "665" "0" "665" "0" "c.665T>C" "r.(?)" "p.(Leu222Pro)" "" "" "0001061170" "00010204" "90" "262" "0" "262" "0" "c.262C>T" "r.262C>T" "p.Arg88Ter" "" "" "0001061172" "00010204" "90" "100" "0" "100" "0" "c.100C>T" "r.100C>T" "p.Arg34Ter" "" "" "0001061207" "00010204" "90" "2245" "0" "2245" "0" "c.2245G>C" "r.(?)" "p.(Asp749His)" "14" "" "0001061209" "00010204" "90" "2134" "1" "2134" "1" "c.2134+1G>C" "r.2015_2134del" "p.Asp673_Glu712del" "13i" "" "0001061210" "00010204" "90" "2134" "1" "2134" "1" "c.2134+1G>C" "r.2015_2134del" "p.Asp673_Glu712del" "13i" "" "0001061211" "00010204" "90" "2231" "0" "2231" "0" "c.2231T>C" "r.2231T>C" "p.Leu744Pro" "" "" "0001061212" "00010204" "10" "2301" "9" "2301" "9" "c.2301+9C>T" "r.2301_2302=" "p.=" "14i" "" "0001061218" "00010204" "90" "2231" "0" "2231" "0" "c.2231T>C" "r.(?)" "p.(Leu744Pro)" "" "" "0001061222" "00010204" "50" "1818" "0" "1818" "0" "c.1818G>T" "r.(?)" "p.(Lys606Asn)" "" "HPA-26;SEC" "0001061223" "00010204" "50" "487" "0" "487" "0" "c.487A>C" "r.(?)" "p.(Lys163Gln)" "" "HPA-19;STA" "0001061224" "00010204" "50" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Glu654Lys)" "" "HPA-21;NOS" "0001061226" "00010204" "50" "521" "0" "521" "0" "c.521A>G" "r.(?)" "p.(Asn174Ser)" "" "DOM" "0001061227" "00010204" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Gln158Arg)" "" "WO" "0001061228" "00010204" "50" "1976" "0" "1976" "0" "c.1976G>A" "r.1976G>A" "p.Arg659His" "" "HPA-11;GRO" "0001061229" "00010204" "10" "1545" "0" "1545" "0" "c.1545G>A" "r.1545G>A" "p.Arg515=" "" "" "0001061230" "00010204" "10" "1143" "0" "1143" "0" "c.1143A>C" "r.1143A>C" "p.Val381=" "" "" "0001061231" "00010204" "50" "1984" "0" "1984" "0" "c.1984C>T" "r.(?)" "p.(Arg662Cys)" "" "HPA-8" "0001061232" "00010204" "50" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Arg88Gln)" "" "HPA-10" "0001061233" "00010204" "50" "1912" "0" "1913" "1" "c.1912_1913+1del" "r.1911_1913del" "p.Lys638del" "" "HPA-14" "0001061234" "00010204" "50" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Thr166Ile)" "" "HPA-16" "0001061235" "00010204" "50" "662" "0" "662" "0" "c.662C>T" "r.(?)" "p.(Thr221Met)" "" "HPA-17" "0001061236" "00010204" "50" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Arg648Trp)" "" "HPA-23" "0001061237" "00010204" "50" "98" "0" "98" "0" "c.98C>T" "r.(?)" "p.(Thr33Met)" "" "HPA-29" "0001061256" "00010204" "70" "1871" "0" "1871" "0" "c.1871G>A" "r.(?)" "p.(Cys624Tyr)" "" "" "0001061259" "00010204" "90" "1913" "1" "1913" "1" "c.1913+1G>A" "r.spl" "p.?" "11i" "" "0001061260" "00010204" "70" "353" "0" "353" "0" "c.353T>A" "r.(?)" "p.(Leu118His)" "3" "" "0001061262" "00010204" "70" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Pro189Ser)" "4" "" "0001061263" "00010204" "70" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Asp314Tyr)" "7" "" "0001061264" "00010204" "70" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "3" "" "0001061268" "00010204" "70" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Pro189Ser)" "4" "" "0001061277" "00010204" "70" "1031" "0" "1031" "0" "c.1031A>C" "r.(?)" "p.(Tyr344Ser)" "7" "" "0001061283" "00010204" "90" "777" "1" "777" "1" "c.777+1G>A" "r.spl" "p.?" "5i" "" "0001061285" "00010204" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Ter)" "3" "" "0001061287" "00010204" "50" "392" "0" "392" "0" "c.392G>C" "r.(?)" "p.(Arg131Pro)" "4" "" "0001061289" "00010204" "90" "79" "1" "79" "1" "c.79+1G>A" "r.spl" "p.?" "1i" "" "0001061294" "00010204" "90" "614" "1" "614" "1" "c.614+1G>T" "r.spl" "p.?" "4i" "" "0001061298" "00010204" "50" "1094" "0" "1094" "0" "c.1094A>G" "r.(?)" "p.(Asn365Ser)" "8" "" "0001061300" "00010204" "90" "1260" "0" "1260" "0" "c.1260G>A" "r.(1126_1260del)" "p.(Lys376_Thr420del)" "9" "" "0001061301" "00010204" "90" "861" "0" "861" "0" "c.861del" "r.(?)" "p.(Arg287SerfsTer34)" "6" "" "0001061303" "00010204" "70" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "3" "" "0001061304" "00010204" "70" "2014" "5" "2014" "5" "c.2014+5G>A" "r.spl" "p.?" "12i" "" "0001061308" "00010204" "70" "1801" "0" "1801" "0" "c.1801T>C" "r.(?)" "p.(Cys601Arg)" "11" "" "0001061309" "00010204" "90" "224" "0" "224" "0" "c.224del" "r.(?)" "p.(Cys75LeufsTer10)" "3" "" "0001061310" "00010204" "30" "31" "0" "31" "0" "c.31T>C" "r.(?)" "p.(Trp11Arg)" "1" "" "0001061317" "00010204" "90" "613" "0" "614" "2" "c.613_614+2del" "r.spl" "p.?" "4_4i" "" "0001061319" "00010204" "70" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Gly297Arg)" "6" "" "0001061323" "00010204" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Arg88Ter)" "3" "" "0001061324" "00010204" "70" "392" "0" "392" "0" "c.392G>C" "r.(?)" "p.(Arg131Pro)" "4" "" "0001061328" "00010204" "90" "614" "1" "614" "1" "c.614+1G>T" "r.spl" "p.?" "4i" "" "0001061330" "00010204" "90" "709" "0" "710" "0" "c.709_710del" "r.(?)" "p.(Ser237CysfsTer13)" "5" "" "0001061331" "00010204" "70" "1732" "0" "1732" "0" "c.1732G>A" "r.(?)" "p.(Asp578Asn)" "11" "" "0001061332" "00010204" "90" "2113" "0" "2113" "0" "c.2113del" "r.(?)" "p.(Leu705CysfsTer4)" "13" "" "0001061333" "00010204" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169Ter)" "4" "" "0001061345" "00010204" "90" "2113" "0" "2113" "0" "c.2113del" "r.(?)" "p.(Leu705CysfsTer4)" "13" "" "0001061347" "00010204" "90" "777" "1" "777" "1" "c.777+1G>A" "r.spl" "p.?" "5i" "" "0001061350" "00010204" "90" "940" "-2" "940" "-2" "c.940-2A>G" "r.spl" "p.?" "6i" "" "0001061352" "00010204" "70" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "5" "" "0001061354" "00010204" "90" "1522" "0" "1522" "0" "c.1522del" "r.(?)" "p.(Gln508SerfsTer161)" "10" "" "0001061356" "00010204" "90" "1456" "0" "1456" "0" "c.1456del" "r.(?)" "p.(Cys486AlafsTer183)" "10" "" "0001061357" "00010204" "70" "1697" "0" "1697" "0" "c.1697G>A" "r.(?)" "p.(Gly566Asp)" "11" "" "0001061358" "00010204" "90" "" "0" "" "0" "c.(2134+1_2135-1)_(*2507_?)del" "r.?" "p.?" "13i_15_" "" "0001061365" "00010204" "90" "2113" "0" "2113" "0" "c.2113del" "r.(?)" "p.(Leu705CysfsTer4)" "13" "" "0001061366" "00010204" "90" "777" "1" "777" "1" "c.777+1G>A" "r.spl" "p.?" "5i" "" "0001061371" "00010204" "70" "683" "0" "683" "0" "c.683G>A" "r.(?)" "p.(Arg228His)" "5" "" "0001061377" "00010204" "90" "356" "0" "356" "0" "c.356G>A" "-" "p.Arg119Gln" "" "" "0001061378" "00010204" "90" "355" "0" "355" "0" "c.355C>T" "-" "p.Arg119Trp" "" "" "0001061435" "00010204" "70" "842" "0" "842" "0" "c.842A>C" "r.(?)" "p.(His281Pro)" "6" "" "0001061438" "00010204" "90" "1525" "0" "1525" "0" "c.1525del" "r.(?)" "p.(Gln509ArgfsTer160)" "10" "" "0001061439" "00010204" "90" "1525" "0" "1525" "0" "c.1525del" "r.(?)" "p.(Gln509ArgfsTer160)" "10" "" "0001061448" "00010204" "90" "1980" "0" "1980" "0" "c.1980C>A" "r.(?)" "p.(Tyr660Ter)" "12" "" "0001061450" "00010204" "50" "1495" "0" "1495" "0" "c.1495T>C" "r.(?)" "p.(Cys499Arg)" "10" "" "0001061453" "00010204" "90" "1728" "0" "1728" "0" "c.1728del" "r.(?)" "p.(Ser577ProfsTer92)" "11" "" "0001061458" "00010204" "90" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Arg240Gln)" "5" "" "0001061461" "00010204" "50" "1913" "5" "1913" "5" "c.1913+5G>T" "r.spl" "p.?" "11i" "" "0001061466" "00010204" "90" "1736" "0" "1736" "0" "c.1736G>A" "r.(?)" "p.(Trp579Ter)" "11" "" "0001061467" "00010204" "90" "1300" "0" "1300" "0" "c.1300del" "r.(?)" "p.(Gln434ArgfsTer9)" "10" "" "0001061472" "00010204" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Cys400Tyr)" "9" "" "0001061473" "00010204" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Cys400Tyr)" "9" "" "0001061474" "00010204" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Cys400Tyr)" "9" "" "0001061477" "00010204" "70" "2147" "0" "2147" "0" "c.2147G>T" "r.(?)" "p.(Gly716Val)" "14" "" "0001061480" "00010204" "90" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Gln298Ter)" "6" "" "0001061482" "00010204" "70" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Val138Met)" "4" "" "0001061485" "00010204" "70" "1646" "0" "1646" "0" "c.1646G>C" "r.(?)" "p.(Cys549Ser)" "10" "" "0001061488" "00010204" "90" "1784" "0" "1802" "0" "c.1784_1802delinsGTCACA" "r.(?)" "p.(Ser595CysfsTer70)" "11" "" "0001061503" "00010204" "70" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.(Leu20Pro)" "" "" "0001061504" "00010204" "90" "2217" "0" "2217" "0" "c.2217del" "r.(?)" "p.(Ile740SerfsTer89)" "" "" "0001061510" "00010204" "90" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242Gln)" "" "" "0001061513" "00010204" "70" "953" "0" "953" "0" "c.953T>C" "r.(?)" "p.(Leu318Ser)" "" "" "0001061515" "00010204" "70" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Tyr344Cys)" "" "" "0001061516" "00010204" "70" "2315" "0" "2315" "0" "c.2315T>C" "r.(?)" "p.(Leu772Pro)" "" "" "0001061517" "00010204" "90" "674" "0" "674" "0" "c.674del" "r.(?)" "p.(Gln225ArgfsTer2)" "" "" "0001061518" "00010204" "90" "887" "0" "901" "0" "c.887_901del" "r.(?)" "p.(Asp296_His300del)" "" "" "0001061522" "00010204" "70" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Cys31Tyr)" "" "" "0001061523" "00010204" "90" "887" "0" "901" "0" "c.887_901del" "r.(?)" "p.(Asp296_His300del)" "" "" "0001061526" "00010204" "70" "415" "0" "415" "0" "c.415G>C" "r.(?)" "p.(Asp139His)" "" "" "0001061529" "00010204" "50" "155" "0" "156" "0" "c.155_156delinsTT" "r.(?)" "p.(Cys52Phe)" "" "" "0001061535" "00010204" "70" "1641" "0" "1641" "0" "c.1641C>G" "r.(?)" "p.(Cys547Trp)" "" "" "0001061536" "00010204" "90" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "" "0001061539" "00010204" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 183 "{{screeningid}}" "{{variantid}}" "0000292939" "0000649628" "0000305717" "0000669405" "0000360194" "0000760006" "0000360209" "0000760069" "0000453288" "0000987867" "0000453301" "0000987884" "0000472419" "0001061016" "0000472421" "0001061018" "0000472422" "0001061019" "0000472423" "0001061020" "0000472424" "0001061022" "0000472426" "0001061024" "0000472427" "0001061025" "0000472428" "0001061026" "0000472428" "0001061027" "0000472429" "0001061029" "0000472430" "0001061030" "0000472431" "0001061031" "0000472431" "0001061032" "0000472432" "0001061033" "0000472433" "0001061034" "0000472434" "0001061036" "0000472435" "0001061037" "0000472436" "0001061038" "0000472437" "0001061039" "0000472438" "0001061040" "0000472439" "0001061041" "0000472440" "0001061042" "0000472444" "0001061046" "0000472445" "0001061047" "0000472446" "0001061048" "0000472447" "0001061049" "0000472447" "0001061050" "0000472448" "0001061051" "0000472462" "0001061065" "0000472463" "0001061066" "0000472463" "0001061090" "0000472464" "0001061067" "0000472465" "0001061068" "0000472466" "0001061069" "0000472466" "0001061091" "0000472467" "0001061070" "0000472468" "0001061071" "0000472469" "0001061072" "0000472470" "0001061073" "0000472470" "0001061092" "0000472471" "0001061074" "0000472472" "0001061075" "0000472473" "0001061076" "0000472474" "0001061077" "0000472475" "0001061078" "0000472476" "0001061079" "0000472477" "0001061080" "0000472478" "0001061081" "0000472479" "0001061082" "0000472480" "0001061083" "0000472481" "0001061084" "0000472482" "0001061085" "0000472483" "0001061086" "0000472484" "0001061087" "0000472485" "0001061088" "0000472486" "0001061094" "0000472487" "0001061095" "0000472487" "0001061119" "0000472488" "0001061096" "0000472488" "0001061120" "0000472489" "0001061097" "0000472490" "0001061098" "0000472491" "0001061099" "0000472492" "0001061100" "0000472493" "0001061101" "0000472512" "0001061128" "0000472513" "0001061131" "0000472514" "0001061132" "0000472515" "0001061133" "0000472534" "0001061153" "0000472535" "0001061154" "0000472536" "0001061155" "0000472537" "0001061156" "0000472538" "0001061157" "0000472539" "0001061158" "0000472539" "0001061166" "0000472540" "0001061159" "0000472541" "0001061160" "0000472541" "0001061167" "0000472542" "0001061168" "0000472542" "0001061256" "0000472544" "0001061170" "0000472546" "0001061172" "0000472568" "0001061207" "0000472569" "0001061209" "0000472570" "0001061210" "0000472571" "0001061211" "0000472571" "0001061212" "0000472572" "0001061218" "0000472576" "0001061222" "0000472577" "0001061223" "0000472578" "0001061224" "0000472580" "0001061226" "0000472581" "0001061227" "0000472582" "0001061228" "0000472582" "0001061229" "0000472582" "0001061230" "0000472583" "0001061231" "0000472584" "0001061232" "0000472585" "0001061233" "0000472586" "0001061234" "0000472587" "0001061235" "0000472588" "0001061236" "0000472589" "0001061237" "0000472610" "0001061259" "0000472611" "0001061260" "0000472611" "0001061330" "0000472611" "0001061331" "0000472613" "0001061262" "0000472613" "0001061332" "0000472614" "0001061263" "0000472615" "0001061264" "0000472615" "0001061333" "0000472619" "0001061268" "0000472628" "0001061277" "0000472634" "0001061283" "0000472636" "0001061285" "0000472636" "0001061345" "0000472638" "0001061287" "0000472638" "0001061347" "0000472640" "0001061289" "0000472640" "0001061350" "0000472645" "0001061294" "0000472645" "0001061352" "0000472649" "0001061298" "0000472649" "0001061354" "0000472651" "0001061300" "0000472652" "0001061301" "0000472652" "0001061356" "0000472654" "0001061303" "0000472654" "0001061357" "0000472655" "0001061304" "0000472655" "0001061358" "0000472659" "0001061308" "0000472660" "0001061309" "0000472661" "0001061310" "0000472668" "0001061317" "0000472670" "0001061319" "0000472674" "0001061323" "0000472674" "0001061365" "0000472675" "0001061324" "0000472675" "0001061366" "0000472679" "0001061328" "0000472679" "0001061371" "0000472728" "0001061435" "0000472728" "0001061472" "0000472732" "0001061438" "0000472732" "0001061473" "0000472733" "0001061439" "0000472733" "0001061474" "0000472743" "0001061448" "0000472743" "0001061477" "0000472745" "0001061450" "0000472748" "0001061453" "0000472748" "0001061480" "0000472751" "0001061482" "0000472753" "0001061458" "0000472756" "0001061461" "0000472758" "0001061485" "0000472761" "0001061466" "0000472761" "0001061488" "0000472762" "0001061467" "0000472772" "0001061503" "0000472773" "0001061504" "0000472779" "0001061510" "0000472782" "0001061513" "0000472784" "0001061515" "0000472785" "0001061516" "0000472786" "0001061517" "0000472787" "0001061518" "0000472791" "0001061522" "0000472792" "0001061523" "0000472795" "0001061526" "0000472795" "0001061539" "0000472798" "0001061529" "0000472804" "0001061535" "0000472805" "0001061536"