### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GP1BA) # 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}}" "GP1BA" "glycoprotein Ib (platelet), alpha polypeptide" "17" "pter-p12" "unknown" "NG_008767.2" "UD_132118705578" "" "https://www.LOVD.nl/GP1BA" "" "1" "4439" "2811" "606672" "1" "1" "1" "1" "This database is one of the EAHAD Coagulation Factor Variant Databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GP1BA_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2018-12-07 17:17:29" "00006" "2025-12-13 19:37:13" ## 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}}" "00008735" "GP1BA" "glycoprotein Ib (platelet), alpha polypeptide" "001" "NM_000173.5" "" "NP_000164.5" "" "" "" "-75" "2426" "1959" "4835592" "4838325" "" "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" "" "" "00089" "BBS1" "Bardet-Biedl syndrome, type 1 (BBS-1)" "AR;DR" "209900" "" "" "" "00015" "2012-11-26 09:02:23" "00006" "2021-12-10 21:51:32" "00143" "BSS" "Bernard-Soulier syndrome" "AR" "231200" "" "" "" "00006" "2013-06-12 11:01:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01423" "BSSA2" "Bernard-Soulier syndrome, type A2, autosomal dominant (BSSA-2)" "AD" "153670" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01532" "VWDP" "von Willebrand disease, pseudo (VWDP)" "AD" "177820" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01984" "-" "neuropathy, optic, ischemic, nonarteritic anterior, susceptibility to" "AR" "258660" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "GP1BA" "00143" "GP1BA" "01423" "GP1BA" "01532" "GP1BA" "01984" ## Individuals ## Do not remove or alter this header ## ## Count = 113 "{{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}}" "00016596" "" "" "" "1" "" "00090" "{PMID:Savoia 2011:21173099},{PMID:Savoia 2014:24934643}" "" "" "" "" "" "0" "" "" "South America" "" "00016597" "" "" "" "1" "" "00090" "{PMID:Simsek 1994:7819107},{PMID:Savoia 2014:24934643}" "" "" "" "Spain" "" "0" "" "" "" "" "00016598" "" "" "" "1" "" "00090" "{PMID:Rand 2010:20658588},{PMID:Savoia 2014:24934643}" "" "" "" "Portugal" "" "0" "" "" "" "" "00016599" "" "" "" "1" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Italy" "" "0" "" "" "" "" "00016600" "" "" "" "1" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "" "" "0" "" "" "" "" "00016601" "" "" "" "2" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Algeria" "" "0" "" "" "" "" "00016615" "" "" "" "2" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Italy" "" "0" "" "" "" "" "00016617" "" "" "" "1" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Switzerland" "" "0" "" "" "" "" "00016621" "" "" "" "1" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Morocco" "" "0" "" "" "" "" "00016624" "" "" "" "1" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "" "" "0" "" "" "" "" "00016625" "" "" "" "2" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Algeria" "" "0" "" "" "" "" "00016628" "" "" "" "2" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Algeria" "" "0" "" "" "" "" "00016630" "" "" "" "1" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Brazil;Japan" "" "0" "" "" "" "" "00016633" "" "" "" "2" "" "00090" "{PMID:Savoia 2014:24934643}" "" "" "" "Germany" "" "0" "" "" "" "" "00016635" "" "" "" "1" "" "00090" "{PMID:Glembotsky 2012:22672365},{PMID:Savoia 2014:24934643}" "" "" "" "Bolivia" "" "0" "" "" "Indigenous" "" "00016636" "" "" "" "2" "" "00090" "{PMID:Afrasiabi 2007:17763149},{PMID:Savoia 2014:24934643}" "" "" "" "Iran" "" "0" "" "" "" "" "00016649" "" "" "" "1" "" "00090" "{PMID:Vettore 2008:18791947},{PMID:Savoia 2014:24934643}" "" "" "" "Italy" "" "0" "" "" "" "" "00016650" "" "" "" "1" "" "00090" "{PMID:Sumitha 2011:21699652},{PMID:Savoia 2014:24934643}" "" "" "" "" "" "0" "" "" "" "" "00016651" "" "" "" "1" "" "00090" "{PMID:Savoia 2011:21173099},{PMID:Savoia 2014:24934643}" "" "" "" "Italy" "" "0" "" "" "" "" "00016652" "" "" "" "1" "" "00090" "{PMID:Vettore 2011:21993687},{PMID:Savoia 2014:24934643}" "" "" "" "Italy" "" "0" "" "" "" "" "00016653" "" "" "" "3" "" "00090" "{PMID:de la Selle 1995:7873390}, {PMID:Ulsemer 2000:10928479},{PMID:Savoia 2014:24934643}" "" "" "" "Algeria" "" "0" "" "" "" "" "00016654" "" "" "" "2" "" "00090" "{PMID:Rosenberg 2007:17083647},{PMID:Savoia 2014:24934643}" "" "" "" "Uzbekistan" "" "0" "" "" "" "" "00016655" "" "" "" "1" "" "00090" "{PMID:Imai 2009:19448529},{PMID:Savoia 2014:24934643}" "" "" "" "Japan" "" "0" "" "" "" "" "00016657" "" "" "" "1" "" "00090" "{PMID:Sumitha 2011:21699652},{PMID:Savoia 2014:24934643}" "" "" "" "" "" "0" "" "" "" "" "00016658" "" "" "" "1" "" "00090" "{PMID:Kunishima 1994:7949089},{PMID:Savoia 2014:24934643}" "" "" "" "Japan" "" "0" "" "" "" "" "00016659" "" "" "" "1" "" "00090" "{PMID:Ware 1990:2308962}" "" "" "" "" "" "0" "" "" "" "" "00016663" "" "" "" "1" "" "00090" "{PMID:Gohda 2007:16916536}" "" "" "" "Japan" "" "0" "" "" "" "" "00016664" "" "" "" "1" "" "00090" "{PMID:Li 1996:8950770}" "" "" "" "" "" "0" "" "" "" "" "00016668" "" "" "" "1" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016671" "" "" "" "1" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016674" "" "" "" "1" "" "00090" "{PMID:Simsek et al 1994:7855797}" "" "" "" "" "" "0" "" "" "" "" "00016679" "" "" "" "1" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016681" "" "" "" "2" "" "00090" "{PMID:Li 1995:7579348}" "" "" "" "" "" "0" "" "" "African-American" "" "00016683" "" "" "" "1" "" "00090" "{PMID:Antonucci 2000:10996832}" "" "" "" "" "" "0" "" "" "African-American" "" "00016684" "" "" "" "1" "" "00090" "{PMID:De Marco 1990:1694864}, {PMID:Ware 1993:7690774}" "" "" "" "Italy" "" "0" "" "" "" "" "00016685" "" "" "" "2" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016686" "" "" "" "1" "" "00090" "{PMID:Kanaji 1997:9241731}" "" "" "" "" "" "0" "" "" "" "" "00016687" "" "" "" "1" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016688" "" "" "" "1" "" "00090" "{PMID:Ali 2013:23402648}" "" "" "" "India" "" "0" "" "" "" "" "00016689" "" "" "" "1" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016690" "" "" "" "1" "" "00090" "{PMID:Bowers 2006:16788318}" "" "" "" "" "" "0" "" "" "" "" "00016691" "" "" "" "1" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016692" "" "" "" "1" "" "00090" "{PMID:Ali 2013:23402648}" "" "" "" "India" "" "0" "" "" "" "" "00016693" "" "" "" "1" "" "00090" "{PMID:Gohda 2007:16916536}" "" "" "" "Japan" "" "0" "" "" "" "" "00016694" "" "" "" "1" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016695" "" "" "" "1" "" "00090" "{PMID:Noda 1995:8772211}" "" "" "" "" "" "0" "" "" "" "" "00016699" "" "" "" "1" "" "00090" "{PMID:Mitsui 1998:9628437}" "" "" "" "" "" "0" "" "" "" "" "00016700" "" "" "" "2" "" "00090" "{PMID:Ali 2014:23995613}" "" "" "" "India" "" "0" "" "" "" "" "00016702" "" "" "" "1" "" "00090" "{PMID:Kenny 1997:9326229}" "" "" "" "Germany" "" "0" "" "" "" "" "00016704" "" "" "" "1" "" "00090" "{PMID:Afshar-Kharghan 1997:9326230}" "" "" "" "Germany" "" "0" "" "" "" "" "00016706" "" "" "" "1" "" "00090" "{PMID:Koskela 1999:10089893}" "" "" "" "Finland" "" "0" "" "" "" "" "00016712" "" "" "" "1" "" "00090" "{PMID:Yamamoto 2013:23414566}" "" "" "" "Japan" "" "0" "" "" "" "" "00016714" "" "" "" "1" "" "00090" "{PMID:Afshar-Kharghan 2000:11054083}" "" "" "" "Germany" "" "0" "" "" "" "" "00016715" "" "" "" "2" "" "00090" "{PMID:Kenny 1998:9639514}" "" "" "" "Iceland" "" "0" "" "" "" "" "00016716" "" "" "" "1" "" "00090" "{PMID:Koskela 1999:10089893}" "" "" "" "Finland" "" "0" "" "" "" "" "00016717" "" "" "" "1" "" "00090" "{PMID:Margaglione 1999:10235425}" "" "" "" "Italy" "" "0" "" "" "" "" "00016719" "" "" "" "2" "" "00090" "{PMID:Gonzalez-Manchon 2001:11776304}" "" "" "" "Spain" "" "0" "" "" "" "" "00016722" "" "" "" "1" "" "00090" "{PMID:Yamamoto 2013:23414566}" "" "" "" "Japan" "" "0" "" "" "" "" "00016724" "" "" "" "1" "" "00090" "{PMID:Kanaji 1997:9241731}" "" "" "" "" "" "0" "" "" "" "" "00016729" "" "" "" "1" "" "00090" "{PMID:Sumitha 2011:21699652}" "" "" "" "India" "" "0" "" "" "" "" "00016796" "" "" "" "1" "" "00090" "{PMID:Sumitha 2011:21699652},{PMID:Savoia 2014:24934643}" "" "" "" "India" "" "0" "" "" "" "" "00208161" "" "" "" "1" "" "01884" "" "" "F" "" "Iran" "" "0" "" "" "" "?" "00208162" "" "" "" "1" "" "00006" "{PMID:Miller 1992:1730088}" "3-generation family, affected father" "M" "no" "United States" "" "0" "" "" "" "01730088-Pat!.i" "00208163" "" "" "" "1" "" "00006" "{PMID:Miller 1992:1730088}" "3-generation family, affected daughter" "F" "no" "United States" "" "0" "" "" "" "01730088-PatII.2" "00208164" "" "" "" "1" "" "00006" "{PMID:Miller 1992:1730088}" "3-generation family, addected son" "M" "no" "United States" "" "0" "" "" "" "01730088-PatIII.1" "00208165" "" "" "" "1" "" "00006" "{PMID:Miller 1992:1730088}" "3-generation family, affected daughter" "F" "no" "United States" "" "0" "" "" "" "01730088-PatIII.2" "00208166" "" "" "" "6" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "Asia, South-East" "01577776-con" "00208167" "" "" "" "11" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "African-American" "01577776-con" "00208168" "" "" "" "8" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "Australia" "" "0" "" "" "Aborigine" "01577776-con" "00208169" "" "" "" "7" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "white" "01577776-con" "00208170" "" "" "" "1" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "Asia, South-East" "01577776-con" "00208171" "" "" "" "22" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "Asia, South-East" "01577776-con" "00208172" "" "" "" "27" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "African-American" "01577776-con" "00208173" "" "" "" "40" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "Australia" "" "0" "" "" "Aborigine" "01577776-con" "00208174" "" "" "" "36" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "white" "01577776-con" "00208175" "" "" "" "17" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "Asia, South-East" "01577776-con" "00208176" "" "" "" "4" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "African-American" "01577776-con" "00208177" "" "" "" "5" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "Australia" "" "0" "" "" "Aborigine" "01577776-con" "00208178" "" "" "" "8" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "white" "01577776-con" "00208179" "" "" "" "4" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "Asia, South-East" "01577776-con" "00208180" "" "" "" "3" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "African-American" "01577776-con" "00208181" "" "" "" "2" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "white" "01577776-con" "00208182" "" "" "" "1" "" "00006" "{PMID:Lopez 1992:1577776}" "" "" "" "" "" "0" "" "" "" "01577776-con" "00208183" "" "" "" "1" "" "00006" "{PMID:Ware 1990:2308962}" "3-generation family, affected father" "M" "no" "United States" "" "0" "" "" "" "02308962-PatII.1" "00208184" "" "" "" "3" "" "00006" "{PMID:Ware 1990:2308962}" "3-generation family, unaffected mother, son, daughter" "" "no" "United States" "" "0" "" "" "" "02308962-Pats" "00208185" "" "" "" "7" "" "00006" "{PMID:Miller 1991:2052556}" "3-generation family, 7 affecteds" "" "no" "United States" "" "0" "" "" "" "02052556-Pats" "00208190" "" "" "" "1" "" "00006" "{PMID:Russell 1993:8384898}" "" "" "" "" "" "0" "" "" "" "?" "00208191" "" "" "" "1" "" "00006" "{PMID:Holmberg 1997:9233564}" "" "" "" "" "" "0" "" "" "" "?" "00208193" "" "" "" "1" "" "00006" "{PMID:Ulrichts 2003:12775575}" "" "" "" "" "" "0" "" "" "" "?" "00208194" "" "" "" "1" "" "00006" "{PMID:Matsubara 2003:14521605}" "" "" "" "" "" "0" "" "" "" "?" "00208195" "" "" "" "1" "" "00006" "{PMID:Kunishima 2006:16519708}" "" "" "" "" "" "0" "" "" "" "?" "00208196" "" "" "" "1" "" "00006" "{PMID:Rosenberg 2007:17083647}" "" "" "" "" "" "0" "" "" "" "?" "00208199" "" "" "" "1" "" "00006" "{PMID:Savoia 2011:21173099}" "" "F" "" "Italy" "" "0" "" "" "" "21173099-Fam1Pat1" "00208200" "" "" "" "1" "" "00006" "{PMID:Berndt 2011:21357716}" "" "" "" "" "" "0" "" "" "" "?" "00208201" "" "" "" "1" "" "00006" "{PMID:Berndt 2011:21357716}" "" "" "" "" "" "0" "" "" "" "?" "00208204" "" "" "" "1" "" "01882" "{PMID:Woods 2014:24474090}" "" "M" "no" "Argentina" "" "0" "" "" "white" "24474090-Pat" "00208205" "" "" "" "1" "" "01882" "" "" "M" "no" "Argentina" "" "0" "" "" "white" "?" "00208988" "" "" "" "1" "" "00006" "{PMID:Nurden 2007:17264965}" "" "" "" "France" "" "0" "" "" "" "17264965-Pat" "00208989" "" "" "" "2" "" "00006" "{PMID:Favaloro 2007:17916098}" "2-generation family, affected female and grand daugther" "F" "" "Australia" "" "0" "" "" "" "17916098-FamCas1/2" "00208990" "" "" "" "1" "" "00006" "{PMID:Favaloro 2007:17916098}" "" "F" "" "Australia" "" "0" "" "" "" "17916098-FamCas3" "00208991" "" "" "" "2" "" "00006" "{PMID:Enayat 2012:23014764}" "two patients" "" "" "Iran" "" "0" "" "" "" "23014764" "00208992" "" "" "" "2" "" "00006" "{PMID:Takahashi 1995:7833477}" "2-generation family, affected father/daugther" "F;M" "" "Japan" "" "0" "" "" "" "07833477-FamB" "00208993" "" "" "" "1" "" "00006" "{PMID:Takahashi 1995:7833477}" "2-generation family, affected father/daugther" "F;M" "" "Japan" "" "0" "" "" "" "07833477-FamA" "00208994" "" "" "" "2" "" "00006" "{PMID:Takahashi 1995:7833477}" "two families" "" "" "Japan" "" "0" "" "" "" "07833477-Pats" "00208996" "" "" "" "3" "" "00006" "{PMID:Othman 2005:15705799}" "3-generation family, affected mother, daughter, grand daughter" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15705799-Fam" "00208997" "" "" "" "9" "" "00006" "{PMID:Savoia 2001:11222377}" "3-generation family, 9 affected (3F, 6M)" "F;M" "" "Italy" "" "0" "" "" "" "11222377-FamTP-1" "00208998" "" "" "" "9" "" "00006" "{PMID:Savoia 2001:11222377}" "4-generation family, 9 affected (5F, 9M)" "F;M" "" "Italy" "" "0" "" "" "" "11222377-FamTP-2" "00291785" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306219" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "122" "00324662" "" "" "" "1" "" "01882" "" "" "M" "no" "Argentina" "" "0" "" "" "white" "" "00403752" "" "" "" "1" "" "01882" "" "" "F" "no" "Argentina" "" "0" "" "" "white" "" "00470902" "" "" "" "5" "" "00006" "{PMID:Ghevaert 2008:18065693}" "4-generation family, 5 affected (5F)" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "family" "00470929" "" "" "" "1" "" "00006" "{PMID:Bizarro 1988:3376462}, {PMID:Kuijpers 1992:1346615}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 113 "{{individualid}}" "{{diseaseid}}" "00016596" "00143" "00016597" "00143" "00016598" "00143" "00016599" "00143" "00016600" "00143" "00016601" "00143" "00016615" "00143" "00016617" "00089" "00016621" "00143" "00016624" "00143" "00016625" "00143" "00016628" "00143" "00016630" "00143" "00016633" "00143" "00016635" "00143" "00016636" "00143" "00016649" "00143" "00016650" "00143" "00016651" "00143" "00016652" "00143" "00016653" "00143" "00016654" "00143" "00016655" "00143" "00016657" "00143" "00016658" "00143" "00016659" "00143" "00016663" "00143" "00016664" "00143" "00016668" "00143" "00016671" "00143" "00016674" "00143" "00016679" "00143" "00016681" "00143" "00016683" "00143" "00016684" "00143" "00016685" "00143" "00016686" "00143" "00016687" "00143" "00016688" "00143" "00016689" "00143" "00016690" "00143" "00016691" "00143" "00016692" "00143" "00016693" "00143" "00016694" "00143" "00016695" "00143" "00016699" "00143" "00016700" "00143" "00016702" "00143" "00016704" "00143" "00016706" "00143" "00016712" "00143" "00016714" "00143" "00016715" "00143" "00016716" "00143" "00016717" "00143" "00016719" "00143" "00016722" "00143" "00016724" "00143" "00016729" "00143" "00016796" "00143" "00208161" "01532" "00208162" "00143" "00208163" "00143" "00208164" "00143" "00208165" "00143" "00208166" "00000" "00208167" "00000" "00208168" "00000" "00208169" "00000" "00208170" "00000" "00208171" "00000" "00208172" "00000" "00208173" "00000" "00208174" "00000" "00208175" "00000" "00208176" "00000" "00208177" "00000" "00208178" "00000" "00208179" "00000" "00208180" "00000" "00208181" "00000" "00208182" "00000" "00208183" "00143" "00208184" "00000" "00208185" "01532" "00208190" "01532" "00208191" "00143" "00208193" "00198" "00208194" "01532" "00208195" "00198" "00208196" "00143" "00208199" "00143" "00208200" "00143" "00208201" "00143" "00208204" "01532" "00208205" "01532" "00208988" "01532" "00208989" "01532" "00208990" "01532" "00208991" "01532" "00208992" "01532" "00208993" "01532" "00208994" "01532" "00208996" "01532" "00208997" "00143" "00208998" "00143" "00291785" "00198" "00306219" "01423" "00324662" "00143" "00403752" "00143" "00470902" "07215" "00470929" "07213" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00089, 00143, 00198, 01423, 01532, 01984, 07213, 07215 ## Count = 50 "{{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}}" "0000155931" "01532" "00208161" "01884" "Unknown" "" "BS 4; multimer profile absent" "" "" "" "VWF:Ag 0.71; VWF:Rco 0.2; FVIII:C 0.32" "" "" "" "" "VWDP" "pseudo-von Willebrand disease" "" "0000155932" "00143" "00208162" "00006" "Familial, autosomal dominant" "" "thrombocytopenia, increased mean platelet volume" "" "" "" "" "" "" "" "" "BSSA-1" "Bernard-Soulier syndrome" "" "0000155933" "00143" "00208163" "00006" "Familial, autosomal dominant" "" "thrombocytopenia, increased mean platelet volume" "" "" "" "" "" "" "" "" "BSSA-1" "Bernard-Soulier syndrome" "" "0000155934" "00143" "00208164" "00006" "Familial, autosomal dominant" "" "thrombocytopenia, increased mean platelet volume" "" "" "" "" "" "" "" "" "BSSA-1" "Bernard-Soulier syndrome" "" "0000155935" "00143" "00208165" "00006" "Familial, autosomal dominant" "" "thrombocytopenia, increased mean platelet volume" "" "" "" "" "" "" "" "" "BSSA-1" "Bernard-Soulier syndrome" "" "0000155936" "00000" "00208166" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155937" "00000" "00208167" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155938" "00000" "00208168" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155939" "00000" "00208169" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155940" "00000" "00208170" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155941" "00000" "00208171" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155942" "00000" "00208172" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155943" "00000" "00208173" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155944" "00000" "00208174" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155945" "00000" "00208175" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155946" "00000" "00208176" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155947" "00000" "00208177" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155948" "00000" "00208178" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155949" "00000" "00208179" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155950" "00000" "00208180" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155951" "00000" "00208181" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155952" "00000" "00208182" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155953" "00143" "00208183" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Bernard-Soulier syndrome" "" "0000155954" "00000" "00208184" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "-" "" "0000155955" "01532" "00208185" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "VWDP" "pseudo-von Willebrand disease" "" "0000155960" "01532" "00208190" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWDP" "pseudo-von Willebrand disease" "" "0000155961" "00143" "00208191" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bernard-Soulier syndrome" "" "0000155963" "00198" "00208193" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "VWF binding, association with" "" "0000155964" "01532" "00208194" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "VWDP" "pseudo-von Willebrand disease" "" "0000155965" "00198" "00208195" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macrothrombocytopaenia" "" "0000155966" "00143" "00208196" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bernard-Soulier syndrome" "" "0000155969" "00143" "00208199" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bernard-Soulier syndrome" "" "0000155970" "00143" "00208200" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bernard-Soulier syndrome" "" "0000155971" "00143" "00208201" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Bernard-Soulier syndrome" "" "0000155974" "01532" "00208204" "01882" "Familial, autosomal dominant" "" "BS 11; multimer profile absent HMW; severe bleeding symptoms, macrothrombocytopenia, mild spontaneous platelet aggregation, positive RIPA 0.3 and 0.4 mg/mL, von Willebrand factor ristocetin cofactor (VWF:RCo) to antigen (VWF:Ag) < 0.2, normal VWF propeptide/VWF:Ag ratio, RIPA mixing tests and cryoprecipitate challenge positive for PT-VWD" "" "" "" "VWF:Ag 47; VWF:Rco 1; FVIII:C 46" "" "" "" "" "VWDP" "pseudo-von Willebrand disease" "" "0000155975" "01532" "00208205" "01882" "Familial, autosomal dominant" "" "BS 10; multimer profile absent HMW" "" "" "" "VWF:Ag 131; VWF:Rco 1; VWF:CB 70; FVIII:C 100" "" "" "" "" "VWDP" "pseudo-von Willebrand disease" "" "0000157594" "01532" "00208989" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "VWDP" "" "" "0000157595" "01532" "00208990" "00006" "Unknown" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "VWDP" "abnormal bleeding during Caesarean section" "" "0000157596" "01532" "00208991" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "VWDP" "von Willebrand disease" "" "0000157597" "01532" "00208992" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "VWDP" "von Willebrand disease" "" "0000157598" "01532" "00208993" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "VWDP" "von Willebrand disease" "" "0000157599" "01532" "00208994" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "VWDP" "platelet-type vWD" "" "0000157601" "01532" "00208996" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "VWDP" "von Willebrand disease" "" "0000157602" "00143" "00208997" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "BSS" "" "" "0000157603" "00143" "00208998" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "BSS" "" "" "0000232068" "01423" "00306219" "03695" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000243163" "00143" "00324662" "01882" "Familial, autosomal recessive" "59y" "reduced platelets count (121 x109/L), presence of macro-platelets, with a mean platelet volume of 10.9 fL (7-10.5 fL), slightly normal with a period of latency with 1.2 mg/mL RIPA. Remaining laboratory studies showed normal results, including platelet aggregation, clotting and fibrinolytic systems. GPIb and GPIIb-IIIa expression studies showed 50% of expression with CD42 and normal expression with both CD41 and CD61." "59y" "59y" "BSS carrier" "GPIba" "" "" "" "" "heterozygous disease-causing variant" "mild low macrothrombocytopenia" "" "0000296457" "00143" "00403752" "01882" "Familial, autosomal recessive" "" "brother: BSS carrier;\r\ndaughter and sister with macrothrombocytopenia, and bleeding symptoms" "" "" "ecchymosis, bleeding after cesarean section (ISTH-BAT=6); 72x109/L platelets; MPV=18.7fL" "GPIba" "" "" "" "" "BSS" "macrothrombocytopenia" "" "0000355781" "07215" "00470902" "00006" "Familial, autosomal dominant" "" "see paper; ..., mild thrombocytopenia, platelet anisocytosis, giant platelets" "" "" "" "" "" "" "" "" "BDPLT24" "bleeding disorder" "" "0000355798" "07213" "00470929" "00006" "Familial" "" "see paper; ..., thrombocytopenia, amegakaryocytosis; birth-petechiae, no\r\nbacteriological signs of sepsis, small hemorrhagic blister on palate, platelet count 6x10+9/L" "" "" "" "" "" "" "" "" "" "neonatal alloimmune thrombocytopenia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 113 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016550" "00016599" "1" "00090" "00090" "2014-05-23 10:46:13" "" "" "?" "DNA" "" "" "0000016551" "00016600" "1" "00090" "00090" "2014-05-23 12:38:27" "" "" "?" "DNA" "" "" "0000016552" "00016601" "1" "00090" "00090" "2014-05-23 12:46:08" "" "" "?" "DNA" "" "" "0000016569" "00016615" "1" "00090" "00090" "2014-05-23 13:56:59" "" "" "?" "DNA" "" "" "0000016572" "00016617" "1" "00090" "00090" "2014-05-23 14:13:03" "" "" "?" "DNA" "" "" "0000016576" "00016621" "1" "00090" "00090" "2014-05-23 14:36:52" "" "" "?" "DNA" "" "" "0000016579" "00016624" "1" "00090" "00090" "2014-05-23 14:44:58" "" "" "?" "DNA" "" "" "0000016580" "00016625" "1" "00090" "00090" "2014-05-23 14:52:19" "" "" "?" "DNA" "" "" "0000016582" "00016628" "1" "00090" "00090" "2014-05-23 15:14:13" "" "" "?" "DNA" "" "" "0000016585" "00016630" "1" "00090" "00090" "2014-05-23 15:20:10" "" "" "?" "DNA" "" "" "0000016588" "00016633" "1" "00090" "00090" "2014-05-23 15:27:25" "" "" "?" "DNA" "" "" "0000016591" "00016636" "1" "00090" "00090" "2014-05-23 15:35:14" "" "" "?" "DNA" "" "" "0000016606" "00016649" "1" "00090" "00090" "2014-05-26 11:47:58" "" "" "?" "DNA" "" "" "0000016607" "00016650" "1" "00090" "00090" "2014-05-26 11:53:11" "" "" "?" "DNA" "" "" "0000016608" "00016651" "1" "00090" "00090" "2014-05-26 11:59:25" "" "" "?" "DNA" "" "" "0000016609" "00016652" "1" "00090" "00090" "2014-05-26 12:08:50" "" "" "?" "DNA" "" "" "0000016610" "00016653" "1" "00090" "00090" "2014-05-26 12:15:31" "" "" "?" "DNA" "" "" "0000016611" "00016654" "1" "00090" "00090" "2014-05-26 12:24:50" "" "" "?" "DNA" "" "" "0000016612" "00016596" "1" "00090" "00090" "2014-05-26 13:14:17" "" "" "?" "DNA" "" "" "0000016613" "00016597" "1" "00090" "00090" "2014-05-26 13:23:18" "" "" "?" "DNA" "" "" "0000016614" "00016598" "1" "00090" "00090" "2014-05-26 13:30:14" "" "" "?" "DNA" "" "" "0000016615" "00016635" "1" "00090" "00090" "2014-05-26 13:41:50" "" "" "?" "DNA" "" "" "0000016616" "00016655" "1" "00090" "00090" "2014-05-26 14:18:36" "" "" "?" "DNA" "" "" "0000016617" "00016657" "1" "00090" "00090" "2014-05-26 14:27:16" "" "" "?" "DNA" "" "" "0000016618" "00016658" "1" "00090" "00090" "2014-05-26 14:34:15" "" "" "?" "DNA" "" "" "0000016620" "00016659" "1" "00090" "00090" "2014-05-26 15:21:28" "" "" "?" "DNA" "" "" "0000016624" "00016663" "1" "00090" "00090" "2014-05-26 16:52:43" "" "" "?" "DNA" "" "" "0000016625" "00016664" "1" "00090" "00090" "2014-05-26 17:00:50" "" "" "?" "DNA" "" "" "0000016629" "00016668" "1" "00090" "00090" "2014-05-26 17:27:40" "" "" "?" "DNA" "" "" "0000016632" "00016671" "1" "00090" "00090" "2014-05-26 17:34:31" "" "" "?" "DNA" "" "" "0000016636" "00016674" "1" "00090" "00090" "2014-05-26 17:44:15" "" "" "?" "DNA" "" "" "0000016640" "00016679" "1" "00090" "00090" "2014-05-26 17:53:37" "" "" "?" "DNA" "" "" "0000016642" "00016681" "1" "00090" "00090" "2014-05-26 18:08:25" "" "" "?" "DNA" "" "" "0000016644" "00016683" "1" "00090" "00090" "2014-05-26 18:14:09" "" "" "?" "DNA" "" "" "0000016645" "00016684" "1" "00090" "00090" "2014-05-26 18:26:41" "" "" "?" "DNA" "" "" "0000016646" "00016685" "1" "00090" "00090" "2014-05-26 21:56:20" "" "" "?" "DNA" "" "" "0000016647" "00016686" "1" "00090" "00090" "2014-05-26 22:03:11" "" "" "?" "DNA" "" "" "0000016648" "00016687" "1" "00090" "00090" "2014-05-26 22:09:40" "" "" "?" "DNA" "" "" "0000016649" "00016688" "1" "00090" "00090" "2014-05-26 22:14:40" "" "" "?" "DNA" "" "" "0000016650" "00016689" "1" "00090" "00090" "2014-05-26 22:18:58" "" "" "?" "DNA" "" "" "0000016651" "00016690" "1" "00090" "00090" "2014-05-26 22:23:41" "" "" "?" "DNA" "" "" "0000016652" "00016691" "1" "00090" "00090" "2014-05-26 22:28:02" "" "" "?" "DNA" "" "" "0000016653" "00016692" "1" "00090" "00090" "2014-05-26 22:32:18" "" "" "?" "DNA" "" "" "0000016654" "00016693" "1" "00090" "00090" "2014-05-26 22:36:32" "" "" "?" "DNA" "" "" "0000016655" "00016694" "1" "00090" "00090" "2014-05-26 22:40:56" "" "" "?" "DNA" "" "" "0000016656" "00016695" "1" "00090" "00090" "2014-05-26 22:46:49" "" "" "?" "DNA" "" "" "0000016661" "00016699" "1" "00090" "00090" "2014-05-27 09:52:06" "" "" "?" "DNA" "" "" "0000016662" "00016700" "1" "00090" "00090" "2014-05-27 09:57:25" "" "" "?" "DNA" "" "" "0000016663" "00016702" "1" "00090" "00090" "2014-05-27 10:02:46" "" "" "?" "DNA" "" "" "0000016665" "00016704" "1" "00090" "00090" "2014-05-27 10:08:05" "" "" "?" "DNA" "" "" "0000016668" "00016706" "1" "00090" "00090" "2014-05-27 10:13:59" "" "" "?" "DNA" "" "" "0000016674" "00016712" "1" "00090" "00090" "2014-05-27 11:26:38" "" "" "?" "DNA" "" "" "0000016675" "00016714" "1" "00090" "00090" "2014-05-27 11:39:10" "" "" "?" "DNA" "" "" "0000016676" "00016715" "1" "00090" "00090" "2014-05-27 11:47:50" "" "" "?" "DNA" "" "" "0000016677" "00016716" "1" "00090" "00090" "2014-05-27 12:00:05" "" "" "?" "DNA" "" "" "0000016679" "00016717" "1" "00090" "00090" "2014-05-27 12:09:08" "" "" "?" "DNA" "" "" "0000016681" "00016719" "1" "00090" "00090" "2014-05-27 12:38:35" "" "" "?" "DNA" "" "" "0000016684" "00016722" "1" "00090" "00090" "2014-05-27 13:27:49" "00090" "2014-05-27 13:44:55" "?" "DNA" "" "" "0000016686" "00016724" "1" "00090" "00090" "2014-05-27 13:36:20" "" "" "?" "DNA" "" "" "0000016690" "00016729" "1" "00090" "00090" "2014-05-27 15:06:52" "" "" "?" "DNA" "" "" "0000016759" "00016796" "1" "00090" "00090" "2014-05-28 15:12:23" "" "" "?" "DNA" "" "" "0000209208" "00208161" "1" "01884" "00006" "2013-01-18 21:02:46" "" "" "SEQ" "DNA" "" "" "0000209209" "00208162" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000209210" "00208163" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000209211" "00208164" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000209212" "00208165" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000209213" "00208166" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209214" "00208167" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209215" "00208168" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209216" "00208169" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209217" "00208170" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209218" "00208171" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209219" "00208172" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209220" "00208173" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209221" "00208174" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209222" "00208175" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209223" "00208176" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209224" "00208177" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209225" "00208178" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209226" "00208179" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209227" "00208180" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209228" "00208181" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR" "DNA" "" "" "0000209229" "00208182" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "PCR;SEQ" "DNA" "" "" "0000209230" "00208183" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209231" "00208184" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209232" "00208185" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209237" "00208190" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209238" "00208191" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209240" "00208193" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209241" "00208194" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209242" "00208195" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209243" "00208196" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209246" "00208199" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209247" "00208200" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209248" "00208201" "1" "00006" "00006" "2013-01-20 12:40:53" "" "" "SEQ" "DNA" "" "" "0000209251" "00208204" "1" "01882" "00006" "2018-11-26 19:45:48" "00006" "2018-11-26 20:26:33" "SEQ" "DNA" "" "" "0000209252" "00208205" "1" "01882" "00006" "2018-11-26 20:24:10" "" "" "SEQ" "DNA" "" "" "0000210043" "00208988" "1" "00006" "00006" "2018-12-20 19:29:58" "" "" "SEQ" "DNA" "" "" "0000210044" "00208989" "1" "00006" "00006" "2018-12-20 19:37:24" "" "" "SEQ" "DNA" "" "" "0000210045" "00208990" "1" "00006" "00006" "2018-12-20 19:40:18" "" "" "SEQ" "DNA" "" "" "0000210046" "00208991" "1" "00006" "00006" "2018-12-20 19:46:04" "" "" "SEQ" "DNA" "" "" "0000210047" "00208992" "1" "00006" "00006" "2018-12-20 19:52:13" "" "" "SEQ" "DNA" "" "" "0000210048" "00208993" "1" "00006" "00006" "2018-12-20 19:58:18" "" "" "SEQ" "DNA" "" "" "0000210049" "00208994" "1" "00006" "00006" "2018-12-20 20:01:22" "" "" "SEQ" "DNA" "" "" "0000210050" "00208996" "1" "00006" "00006" "2018-12-21 09:16:49" "" "" "SEQ" "DNA" "" "" "0000210052" "00208997" "1" "00006" "00006" "2018-12-21 17:48:23" "" "" "SEQ" "DNA" "" "" "0000210053" "00208998" "1" "00006" "00006" "2018-12-21 17:51:24" "" "" "SEQ" "DNA" "" "" "0000292953" "00291785" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307352" "00306219" "1" "03695" "03695" "2020-07-11 10:09:40" "" "" "SEQ-NG" "DNA" "" "" "0000325871" "00324662" "1" "01882" "01882" "2020-12-21 16:13:15" "" "" "SEQ" "DNA" "" "" "0000404997" "00403752" "1" "01882" "01882" "2022-02-21 15:28:29" "" "" "PCR" "DNA" "" "" "0000472568" "00470902" "1" "00006" "00006" "2025-12-13 09:00:23" "" "" "SEQ" "DNA" "" "6-gene panel" "0000472595" "00470929" "1" "00006" "00006" "2025-12-13 19:23:47" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 111 "{{screeningid}}" "{{geneid}}" "0000016550" "GP1BA" "0000016551" "GP1BA" "0000016552" "GP1BA" "0000016569" "GP1BA" "0000016572" "GP1BA" "0000016576" "GP1BA" "0000016579" "GP1BA" "0000016580" "GP1BA" "0000016582" "GP1BA" "0000016585" "GP1BA" "0000016588" "GP1BA" "0000016591" "GP1BA" "0000016606" "GP1BA" "0000016607" "GP1BA" "0000016608" "GP1BA" "0000016609" "GP1BA" "0000016610" "GP1BA" "0000016611" "GP1BA" "0000016612" "GP1BA" "0000016613" "GP1BA" "0000016614" "GP1BA" "0000016615" "GP1BA" "0000016616" "GP1BA" "0000016617" "GP1BA" "0000016618" "GP1BA" "0000016620" "GP1BA" "0000016624" "GP1BA" "0000016625" "GP1BA" "0000016629" "GP1BA" "0000016632" "GP1BA" "0000016636" "GP1BA" "0000016640" "GP1BA" "0000016642" "GP1BA" "0000016644" "GP1BA" "0000016645" "GP1BA" "0000016646" "GP1BA" "0000016647" "GP1BA" "0000016648" "GP1BA" "0000016649" "GP1BA" "0000016650" "GP1BA" "0000016651" "GP1BA" "0000016652" "GP1BA" "0000016653" "GP1BA" "0000016654" "GP1BA" "0000016655" "GP1BA" "0000016656" "GP1BA" "0000016661" "GP1BA" "0000016662" "GP1BA" "0000016663" "GP1BA" "0000016665" "GP1BA" "0000016668" "GP1BA" "0000016674" "GP1BA" "0000016675" "GP1BA" "0000016676" "GP1BA" "0000016677" "GP1BA" "0000016679" "GP1BA" "0000016681" "GP1BA" "0000016684" "GP1BA" "0000016686" "GP1BA" "0000016690" "GP1BB" "0000016759" "GP9" "0000209208" "GP1BA" "0000209209" "GP1BA" "0000209210" "GP1BA" "0000209211" "GP1BA" "0000209212" "GP1BA" "0000209213" "GP1BA" "0000209214" "GP1BA" "0000209215" "GP1BA" "0000209216" "GP1BA" "0000209217" "GP1BA" "0000209218" "GP1BA" "0000209219" "GP1BA" "0000209220" "GP1BA" "0000209221" "GP1BA" "0000209222" "GP1BA" "0000209223" "GP1BA" "0000209224" "GP1BA" "0000209225" "GP1BA" "0000209226" "GP1BA" "0000209227" "GP1BA" "0000209228" "GP1BA" "0000209229" "GP1BA" "0000209230" "GP1BA" "0000209231" "GP1BA" "0000209232" "GP1BA" "0000209237" "GP1BA" "0000209238" "GP1BA" "0000209240" "GP1BA" "0000209241" "GP1BA" "0000209242" "GP1BA" "0000209243" "GP1BA" "0000209246" "GP1BA" "0000209247" "GP1BA" "0000209248" "GP1BA" "0000209251" "GP1BA" "0000209252" "GP1BA" "0000210043" "GP1BA" "0000210044" "GP1BA" "0000210045" "GP1BA" "0000210046" "GP1BA" "0000210047" "GP1BA" "0000210048" "GP1BA" "0000210049" "GP1BA" "0000210050" "GP1BA" "0000210052" "GP1BA" "0000210053" "GP1BA" "0000307352" "GP1BA" "0000325871" "GP1BA" "0000404997" "GP1BA" "0000472595" "GP1BA" ## 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 = 181 "{{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}}" "0000036419" "1" "90" "17" "4836454" "4836489" "del" "0" "00090" "GP1BA_000028" "g.4836454_4836489del" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4933159_4933194del" "" "pathogenic" "" "0000036420" "3" "90" "17" "4835900" "4835900" "subst" "4.08367E-6" "00090" "GP1BA_000029" "g.4835900A>C" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4932605A>C" "" "pathogenic (recessive)" "" "0000036421" "3" "70" "17" "4835922" "4835930" "del" "0" "00090" "GP1BA_000030" "g.4835922_4835930del" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4932627_4932635del" "" "likely pathogenic" "" "0000036422" "3" "50" "17" "4836005" "4836005" "subst" "0.00150656" "00090" "GP1BA_000031" "g.4836005A>G" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4932710A>G" "" "VUS" "" "0000036437" "3" "90" "17" "4836003" "4836003" "del" "0" "00090" "GP1BA_000033" "g.4836003del" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4932708del" "" "pathogenic (recessive)" "" "0000036438" "3" "90" "17" "4836003" "4836003" "del" "0" "00090" "GP1BA_000033" "g.4836003del" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4932708del" "" "pathogenic (recessive)" "" "0000036443" "3" "90" "17" "4836315" "4836315" "subst" "0" "00090" "GP1BA_000020" "g.4836315T>C" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4933020T>C" "" "pathogenic (recessive)" "" "0000036446" "3" "90" "17" "4836337" "4836337" "subst" "0" "00090" "GP1BA_000034" "g.4836337C>G" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4933042C>G" "" "pathogenic (recessive)" "" "0000036447" "3" "90" "17" "4836483" "4836485" "del" "0" "00090" "GP1BA_000035" "g.4836483_4836485del" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4933188_4933190del" "" "pathogenic (recessive)" "" "0000036449" "3" "90" "17" "4836483" "4836485" "del" "0" "00090" "GP1BA_000035" "g.4836483_4836485del" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4933188_4933190del" "" "pathogenic (recessive)" "" "0000036452" "1" "90" "17" "4836572" "4836572" "subst" "4.06111E-6" "00090" "GP1BA_000012" "g.4836572T>A" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4933277T>A" "" "pathogenic (recessive)" "" "0000036454" "2" "90" "17" "4836002" "4836002" "subst" "0" "00090" "GP1BA_000032" "g.4836002A>T" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4932707A>T" "" "pathogenic (recessive)" "" "0000036456" "1" "90" "17" "4836485" "4836485" "subst" "4.0624E-6" "00090" "GP1BA_000036" "g.4836485C>T" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4933190C>T" "" "pathogenic (recessive)" "" "0000036458" "2" "90" "17" "4837500" "4837501" "delins" "0" "00090" "GP1BA_000037" "g.4837500_4837501delinsTGG" "" "{PMID:Savoia 2014:24934643}" "" "" "" "Germline" "" "" "0" "" "" "g.4934205_4934206delinsTGG" "" "pathogenic (recessive)" "" "0000036459" "3" "90" "17" "4836053" "4836053" "dup" "0" "00090" "GP1BA_000038" "g.4836053dup" "" "{PMID:Afrasiabi 2007:17763149}" "" "" "" "Germline" "" "" "0" "" "" "g.4932758dup" "" "pathogenic (recessive)" "" "0000036474" "3" "90" "17" "4836064" "4836067" "del" "0" "00090" "GP1BA_000039" "g.4836064_4836067del" "" "{PMID:Vettore 2008:18791947}" "" "" "" "Germline" "" "" "0" "" "" "g.4932769_4932772del" "" "pathogenic (recessive)" "" "0000036475" "3" "90" "17" "4836238" "4836239" "ins" "0" "00090" "GP1BA_000040" "g.4836238_4836239insGA" "" "{PMID:Sumitha 2011:21699652}" "" "339insGA" "" "Germline" "" "" "0" "" "" "g.4932943_4932944insGA" "" "pathogenic (recessive)" "" "0000036476" "3" "90" "17" "4836275" "4836275" "subst" "0" "00090" "GP1BA_000022" "g.4836275A>G" "" "{PMID:Savoia 2011:21173099}" "" "" "" "Germline" "" "" "0" "" "" "g.4932980A>G" "" "pathogenic (recessive)" "" "0000036477" "3" "90" "17" "4836275" "4836275" "subst" "0" "00090" "GP1BA_000022" "g.4836275A>G" "" "{PMID:Vettore 2011:21993687}" "" "" "" "Germline" "" "" "0" "" "" "g.4932980A>G" "" "pathogenic (recessive)" "" "0000036478" "3" "90" "17" "4836483" "4836485" "del" "0" "00090" "GP1BA_000035" "g.4836483_4836485del" "" "{PMID:de la Salle 1995:7873390}, {PMID:Ulsemer 2000:10928479}" "" "" "" "Germline" "" "" "0" "" "" "g.4933188_4933190del" "" "pathogenic (recessive)" "" "0000036479" "3" "90" "17" "4836566" "4836566" "subst" "4.06111E-6" "00090" "GP1BA_000024" "g.4836566T>G" "" "{PMID:Rosenberg 2007:17083647}" "" "" "" "Germline" "" "" "0" "" "" "g.4933271T>G" "" "pathogenic (recessive)" "" "0000036480" "3" "90" "17" "4836572" "4836572" "subst" "4.06111E-6" "00090" "GP1BA_000012" "g.4836572T>A" "" "{PMID:Savoia 2011:21173099}" "" "" "" "Germline" "" "" "0" "" "" "g.4933277T>A" "" "pathogenic (recessive)" "" "0000036481" "3" "90" "17" "4836572" "4836572" "subst" "4.06111E-6" "00090" "GP1BA_000012" "g.4836572T>A" "" "{PMID:Simsek 1994:7819107}" "" "" "" "Germline" "" "" "0" "" "" "g.4933277T>A" "" "pathogenic (recessive)" "" "0000036482" "3" "90" "17" "4836572" "4836572" "subst" "4.06111E-6" "00090" "GP1BA_000012" "g.4836572T>A" "" "{PMID:Rand 2010:20658588}" "" "" "" "Germline" "" "" "0" "" "" "g.4933277T>A" "" "pathogenic (recessive)" "" "0000036483" "3" "90" "17" "4836781" "4836781" "subst" "0" "00090" "GP1BA_000042" "g.4836781C>G" "" "{PMID:Glembotsky 2012:22672365}" "" "" "" "Germline" "" "" "0" "" "" "g.4933486C>G" "" "pathogenic (recessive)" "" "0000036484" "3" "90" "17" "4836993" "4837000" "del" "0" "00090" "GP1BA_000043" "g.4836993_4837000del" "" "{PMID:Imai 2009:19448529}" "" "" "" "Germline" "" "" "0" "" "" "g.4933698_4933705del" "" "pathogenic (recessive)" "" "0000036485" "3" "90" "17" "4837156" "4837156" "dup" "0" "00090" "GP1BA_000044" "g.4837156dup" "" "{PMID:Sumitha 2011:21699652}" "" "1253_1257dupC (Pro418_419fsX52)" "" "Germline" "" "" "0" "" "" "g.4933861dup" "" "pathogenic (recessive)" "" "0000036486" "3" "90" "17" "4837356" "4837356" "subst" "0" "00090" "GP1BA_000013" "g.4837356C>A" "" "{PMID:Kunishima 1994:7949089}" "" "" "" "Germline" "" "" "0" "" "" "g.4934061C>A" "" "pathogenic (recessive)" "" "0000036488" "1" "90" "17" "4836976" "4836976" "subst" "0" "00090" "GP1BA_000004" "g.4836976G>A" "" "{PMID:Ware 1990:2308962}" "" "" "" "Germline" "" "" "0" "" "" "g.4933681G>A" "" "pathogenic" "" "0000036494" "3" "90" "17" "4836002" "4836002" "subst" "0" "00090" "GP1BA_000032" "g.4836002A>T" "" "{PMID:Gohda 2007:16916536}" "" "" "" "Germline" "" "" "0" "" "" "g.4932707A>T" "" "pathogenic (recessive)" "" "0000036495" "3" "90" "17" "4836003" "4836003" "del" "0" "00090" "GP1BA_000033" "g.4836003del" "" "{PMID:Li 1996:8950770}" "" "" "" "Germline" "" "" "0" "" "" "g.4932708del" "" "pathogenic (recessive)" "" "0000036498" "3" "90" "17" "4836135" "4836135" "dup" "0" "00090" "GP1BA_000045" "g.4836135dup" "" "{PMID:Ali 2014:23995613}" "" "" "" "Germline" "" "" "0" "" "" "g.4932840dup" "" "pathogenic (recessive)" "" "0000036501" "3" "90" "17" "4836165" "4836165" "dup" "0" "00090" "GP1BA_000046" "g.4836165dup" "" "{PMID:Ali 2014:23995613}" "" "" "" "Germline" "" "" "0" "" "" "g.4932870dup" "" 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"GP1BA(NM_000173.7):c.-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4932600T>C" "" "benign" "" "0000284757" "0" "10" "17" "4837955" "4837955" "dup" "0" "02326" "GP1BA_000065" "g.4837955dup" "" "" "" "GP1BA(NM_000173.7):c.*97dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4934660dup" "" "benign" "" "0000284758" "0" "30" "17" "4837204" "4837204" "subst" "0.00283364" "02326" "GP1BA_000007" "g.4837204C>T" "" "" "" "GP1BA(NM_000173.7):c.1305C>T (p.T435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4933909C>T" "" "likely benign" "" "0000288601" "0" "10" "17" "4837183" "4837193" "del" "0" "01943" "GP1BA_000064" "g.4837183_4837193del" "" "" "" "GP1BA(NM_000173.5):c.1284_1294delAGAGCCCGCCC (p.E429Qfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4933888_4933898del" "" "benign" "" "0000288602" "0" "10" "17" "4837210" "4837248" "del" "0" "01943" "GP1BA_000063" "g.4837210_4837248del" "" "" "" "GP1BA(NM_000173.5):c.1311_1349del (p.S441_T453del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4933915_4933953del" "" "benign" "" "0000325134" "0" "30" "17" "4836005" "4836005" "subst" "0.00150656" "01804" "GP1BA_000031" "g.4836005A>G" "" "" "" "GP1BA(NM_000173.5):c.106A>G (p.(Arg36Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4932710A>G" "" "likely benign" "" "0000340182" "0" "10" "17" "4836673" "4836673" "subst" "0.0218113" "02327" "GP1BA_000066" "g.4836673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4933378C>T" "" "benign" "" "0000340185" "0" "30" "17" "4837204" "4837204" "subst" "0.00283364" "02327" "GP1BA_000007" "g.4837204C>T" "" "" "" "GP1BA(NM_000173.7):c.1305C>T (p.T435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.4933909C>T" "" "likely benign" "" "0000439341" "0" "50" "17" "4836692" "4836692" "subst" "0" "01884" "GP1BA_000001" "g.4836692G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.4933397G>T" "" "VUS" "" "0000439342" "1" "90" "17" "4836116" "4836116" "subst" "0" "00006" "GP1BA_000002" "g.4836116C>T" "" "{PMID:Miller 1992:01730088}, {OMIM606672:0004}" "" "259C>T (F57L)" "not in 266 control chromosomes" "Unknown" "yes" "" "0" "" "" "g.4932821C>T" "" "pathogenic (dominant)" "" "0000439343" "11" "90" "17" "4836116" "4836116" "subst" "0" "00006" "GP1BA_000002" "g.4836116C>T" "" "{PMID:Miller 1992:01730088}, {OMIM606672:0004}" "" "259C>T (F57L)" "not in 266 control chromosomes" "Germline" "yes" "" "0" "" "" "g.4932821C>T" "" "pathogenic (dominant)" "" "0000439344" "21" "90" "17" "4836116" "4836116" "subst" "0" "00006" "GP1BA_000002" "g.4836116C>T" "" "{PMID:Miller 1992:01730088}, {OMIM606672:0004}" "" "259C>T (F57L)" "not in 266 control chromosomes" "Germline" "yes" "" "0" "" "" "g.4932821C>T" "" "pathogenic (dominant)" "" "0000439345" "21" "90" "17" "4836116" "4836116" "subst" "0" "00006" "GP1BA_000002" "g.4836116C>T" "" "{PMID:Miller 1992:01730088}, {OMIM606672:0004}" "" "259C>T (F57L)" "not in 266 control chromosomes" "Germline" "yes" "" "0" "" "" "g.4932821C>T" "" "pathogenic (dominant)" "" "0000439346" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "6/50 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439347" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "11/49 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439348" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "8/53 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439349" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "7/54 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439350" "1" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "1/50 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439351" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "22/50 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439352" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "27/49 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439353" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "40/53 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439354" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "36/54 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439355" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "17/50 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439356" "2" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "17/50 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439357" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "4/49 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439358" "2" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "4/49 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439359" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "5/53 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439360" "2" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "5/53 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439361" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "8/54 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439362" "2" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "8/54 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439363" "1" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "4/50 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439364" "1" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "3/49 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439365" "1" "50" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "2/54 individuals" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "VUS" "" "0000439366" "1" "50" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "VUS" "" "0000439367" "1" "11" "17" "4837204" "4837204" "subst" "0.00283364" "00006" "GP1BA_000007" "g.4837204C>T" "" "{PMID:Lopez 1992:01577776}" "" "" "C\' allele" "Germline" "" "" "0" "" "" "g.4933909C>T" "" "benign" "" "0000439368" "21" "90" "17" "4836976" "4836976" "subst" "0" "00006" "GP1BA_000004" "g.4836976G>A" "" "{PMID:Ware 1990:02308962}, {OMIM606672:0001}" "AvaII-" "1613G>A (Trp343*)" "unknown variant 2nd chromosome" "Germline" "yes" "rs121908061" "0" "" "" "g.4933681G>A" "" "pathogenic (dominant)" "" "0000439369" "1" "90" "17" "4836976" "4836976" "subst" "0" "00006" "GP1BA_000004" "g.4836976G>A" "" "{PMID:Ware 1990:02308962}" "AvaII-" "1613G>A (Trp343*)" "" "Germline" "yes" "rs121908061" "0" "" "" "g.4933681G>A" "" "pathogenic (dominant)" "" "0000439370" "0" "90" "17" "4836645" "4836645" "subst" "0" "00006" "GP1BA_000003" "g.4836645G>T" "" "{PMID:Miller 1991:02052556}, {OMIM606672:0003}" "" "788T>G (Val233Gly)" "not in 332 control chromosomes" "Germline" "yes" "rs121908062" "0" "" "" "g.4933350G>T" "" "pathogenic (dominant)" "" "0000439375" "0" "90" "17" "4836662" "4836662" "subst" "0" "00006" "GP1BA_000014" "g.4836662A>G" "" "{PMID:Russell 1993:08384898}" "" "" "" "Germline" "" "" "0" "" "" "g.4933367A>G" "" "pathogenic" "" "0000439376" "0" "90" "17" "4837519" "4837519" "subst" "2.84699E-5" "00006" "GP1BA_000015" "g.4837519G>A" "" "{PMID:Holmberg 1997:09233564}" "" "4610G>A (W498*)" "" "Unknown" "" "" "0" "" "" "g.4934224G>A" "" "pathogenic" "" "0000439378" "0" "51" "17" "4836381" "4836381" "subst" "0.0980009" "00006" "GP1BA_000009" "g.4836381C>T" "" "{PMID:Ulrichts 2003:12775575}" "" "" "" "Unknown" "" "rs6065" "0" "" "" "g.4933086C>T" "" "VUS" "" "0000439379" "0" "90" "17" "4836644" "4836644" "subst" "0" "00006" "GP1BA_000017" "g.4836644G>A" "" "{PMID:Matsubara 2003:14521605}" "" "" "" "Unknown" "" "" "0" "" "" "g.4933349G>A" "" "pathogenic" "" "0000439380" "0" "90" "17" "4836107" "4836107" "subst" "0" "00006" "GP1BA_000018" "g.4836107T>G" "" "{PMID:Kunishima 2006:16519708}" "" "" "" "Unknown" "" "" "0" "" "" "g.4932812T>G" "" "pathogenic" "" "0000439381" "3" "90" "17" "4836567" "4836567" "subst" "0" "00006" "GP1BA_000019" "g.4836567G>C" "" "{PMID:Rosenberg 2007:17083647}" "" "" "" "Germline" "" "" "0" "" "" "g.4933272G>C" "" "pathogenic" "" "0000439384" "0" "90" "17" "4836275" "4836275" "subst" "0" "00006" "GP1BA_000022" "g.4836275A>G" "" "{PMID:Savoia 2011:21173099}" "" "" "" "Germline" "" "" "0" "" "" "g.4932980A>G" "" "pathogenic" "" "0000439385" "0" "90" "17" "4836068" "4836068" "subst" "0" "00006" "GP1BA_000023" "g.4836068A>C" "" "{PMID:Berndt 2011:21357716}" "" "" "" "Unknown" "" "" "0" "" "" "g.4932773A>C" "" "pathogenic" "" "0000439386" "0" "90" "17" "4836566" "4836566" "subst" "4.06111E-6" "00006" "GP1BA_000024" "g.4836566T>G" "" "{PMID:Berndt 2011:21357716}" "" "" "" "Unknown" "" "" "0" "" "" "g.4933271T>G" "" "pathogenic" "" "0000439388" "0" "90" "17" "4837084" "4837084" "" "0" "00006" "GP1BA_000069" "g.4837084C>D" "54/100 BSS cases" "{PMID:Sumitha 2011:21699652}" "" "Pro395Pro" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000439389" "0" "90" "17" "4836636" "4836636" "subst" "0" "01882" "GP1BA_000026" "g.4836636G>T" "" "{PMID:Woods 2014:24474090}" "" "3805G>T (Trp230Leu)" "variant not maternal, father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.4933341G>T" "" "pathogenic (dominant)" "" "0000439390" "0" "90" "17" "4836662" "4836662" "subst" "0" "01882" "GP1BA_000027" "g.4836662A>G" "" "" "" "806A>G (Met239Val)" "p.Met239Val (conventional numbering)" "Germline" "yes" "" "0" "" "" "g.4933367A>G" "" "pathogenic (dominant)" "" "0000439391" "0" "50" "17" "4835895" "4835895" "subst" "0.159271" "00006" "GP1BA_000008" "g.4835895T>C" "" "{PMID:Othman 2008:18492106}" "" "" "" "Germline" "" "rs2243093" "0" "" "" "g.4932600T>C" "" "VUS" "" "0000439392" "1" "10" "17" "4837165" "4837165" "subst" "0" "00006" "GP1BA_000068" "g.4837165C>T" "" "{PMID:Sumitha 2011:21699652}" "" "" "" "Germline" "" "" "0" "" "" "g.4933870C>T" "" "benign" "" "0000439393" "3" "10" "17" "4837132" "4837132" "subst" "0.000211689" "00006" "GP1BA_000070" "g.4837132A>G" "" "{PMID:Sumitha 2011:21699652}" "" "" "" "Germline" "" "" "0" "" "" "g.4933837A>G" "" "benign" "" "0000441196" "0" "90" "17" "4836644" "4836644" "subst" "0" "00006" "GP1BA_000017" "g.4836644G>A" "" "{PMID:Nurden 2007:17264965}" "" "Gly233Ser" "" "Unknown" "" "" "0" "" "" "g.4933349G>A" "" "pathogenic (dominant)" "" "0000441197" "1" "90" "17" "4836645" "4836645" "subst" "0" "00006" "GP1BA_000003" "g.4836645G>T" "" "{PMID:Favaloro 2007:17916098}" "" "Gly233Ser" "" "Germline" "yes" "" "0" "" "" "g.4933350G>T" "" "pathogenic (dominant)" "" "0000441198" "0" "90" "17" "4836645" "4836645" "subst" "0" "00006" "GP1BA_000003" "g.4836645G>T" "" "{PMID:Favaloro 2007:17916098}" "" "Gly233Ser" "" "Unknown" "" "" "0" "" "" "g.4933350G>T" "" "pathogenic (dominant)" "" "0000441199" "0" "90" "17" "4836650" "4836650" "subst" "0" "00006" "GP1BA_000071" "g.4836650G>T" "" "{PMID:Enayat 2012:23014764}" "" "Asp235Tyr" "" "Unknown" "" "" "0" "" "" "g.4933355G>T" "" "pathogenic (dominant)" "" "0000441200" "11" "90" "17" "4836662" "4836662" "subst" "0" "00006" "GP1BA_000014" "g.4836662A>G" "" "{PMID:Takahashi 1995:07833477}" "" "1299A>G (M239V)" "" "Germline" "yes" "" "0" "" "" "g.4933367A>G" "" "pathogenic (dominant)" "" "0000441201" "0" "90" "17" "4836662" "4836662" "subst" "0" "00006" "GP1BA_000014" "g.4836662A>G" "" "{PMID:Takahashi 1995:07833477}" "" "1299A>G (M239V)" "" "Germline" "yes" "" "0" "" "" "g.4933367A>G" "" "pathogenic (dominant)" "" "0000441202" "0" "90" "17" "4836662" "4836662" "subst" "0" "00006" "GP1BA_000014" "g.4836662A>G" "" "{PMID:Takahashi 1995:07833477}" "" "1299A>G (M239V)" "" "Germline" "" "" "0" "" "" "g.4933367A>G" "" "pathogenic (dominant)" "" "0000441203" "0" "10" "17" "4836381" "4836381" "subst" "0.0980009" "00006" "GP1BA_000009" "g.4836381C>T" "" "{PMID:Takahashi 1995:07833477}" "" "1018C>T" "" "Germline" "" "" "0" "" "" "g.4933086C>T" "" "benign" "" "0000441204" "0" "11" "17" "4836155" "4836155" "subst" "0.000247768" "00006" "GP1BA_000072" "g.4836155C>T" "" "{PMID:Othman 2008:18492106}" "" "Leu70Phe" "" "Germline" "" "" "0" "" "" "g.4932860C>T" "" "benign" "" "0000441205" "0" "11" "17" "4836381" "4836381" "subst" "0.0980009" "00006" "GP1BA_000009" "g.4836381C>T" "" "{PMID:Othman 2008:18492106}" "" "Thr145Met" "" "Germline" "" "rs6065" "0" "" "" "g.4933086C>T" "" "benign" "" "0000441206" "21" "90" "17" "4837284" "4837310" "del" "0" "00006" "GP1BA_000073" "g.4837284_4837310del" "" "{PMID:Othman 2005:15705799}" "" "4374-4400del (Pro421-Ser429del)" "" "Germline" "yes" "" "0" "" "" "g.4933989_4934015del" "" "pathogenic (dominant)" "" "0000441207" "0" "11" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "" "" "" "" "reference D-allele (1 repeat unit SEPAPSPTTPEPT)" "SUMMARY record" "" "" "0" "" "" "g.4933886_4933963del" "" "benign" "" "0000441208" "0" "10" "17" "4837132" "4837248" "del" "0" "00006" "GP1BA_000074" "g.4837132_4837248del" "" "" "" "1219_1335del" "" "Germline" "" "" "0" "" "" "g.4933837_4933953del" "" "benign" "" "0000441209" "0" "10" "17" "4837181" "4837258" "del" "0" "00006" "GP1BA_000006" "g.4837181_4837258del" "" "" "" "1234_1311del" "" "Germline" "" "" "0" "" "" "g.4933886_4933963del" "" "benign" "" "0000441210" "0" "11" "17" "4837171" "4837209" "dup" "0" "00006" "GP1BA_000075" "g.4837171_4837209dup" "" "" "" "" "reference DA-allele (4 repeat units SEPAPSPTTPEPT)" "SUMMARY record" "" "" "0" "" "" "g.4933876_4933914dup" "" "benign" "" "0000441211" "2" "51" "17" "4837142" "4837258" "" "0" "00006" "GP1BA_000076" "g.4837142_4837258=" "" "{PMID:Lopez 1992:01577776}" "" "" "" "Germline" "" "" "0" "" "" "g.4933847_4933963=" "" "benign" "" "0000441212" "0" "11" "17" "4837142" "4837258" "" "0" "00006" "GP1BA_000076" "g.4837142_4837258=" "" "" "" "" "reference B-allele (3 repeat units SEPAPSPTTPEPT)" "SUMMARY record" "" "" "0" "" "" "g.4933847_4933963=" "" "benign" "" "0000441213" "0" "11" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "" "" "" "" "reference C-allele (2 repeat units SEPAPSPTTPEPT)" "SUMMARY record" "" "" "0" "" "" "g.4933925_4933963del" "" "benign" "" "0000441214" "0" "10" "17" "4835895" "4835895" "subst" "0.159271" "00006" "GP1BA_000008" "g.4835895T>C" "" "{PMID:Othman 2005:15705799}" "" "" "" "Germline" "" "" "0" "" "" "g.4932600T>C" "" "benign" "" "0000441215" "3" "11" "17" "4837220" "4837258" "del" "0" "00006" "GP1BA_000005" "g.4837220_4837258del" "" "{PMID:Othman 2005:15705799}" "" "" "" "Germline" "" "" "0" "" "" "g.4933925_4933963del" "" "benign" "" "0000441216" "1" "99" "17" "4836414" "4836414" "subst" "0" "00006" "GP1BA_000011" "g.4836414C>T" "" "{PMID:Savoia 2001:11222377}" "" "Ala156Val" "" "Germline" "yes" "" "0" "" "" "g.4933119C>T" "" "pathogenic (dominant)" "" "0000441217" "1" "99" "17" "4836414" "4836414" "subst" "0" "00006" "GP1BA_000011" "g.4836414C>T" "" "{PMID:Savoia 2001:11222377}" "" "Ala156Val" "" "Germline" "yes" "" "0" "" "" "g.4933119C>T" "" "pathogenic (dominant)" "" "0000441219" "1" "50" "17" "4837499" "4837499" "subst" "4.47642E-5" "00006" "GP1BA_000025" "g.4837499T>C" "" "{PMID:Sumitha 2011:21699652}" "" "1522T>C (Tyr508His)" "" "Germline" "" "" "0" "" "" "g.4934204T>C" "" "VUS" "" "0000562216" "0" "10" "17" "4836105" "4836105" "subst" "0.00175431" "02327" "GP1BA_000078" "g.4836105C>T" "" "" "" "GP1BA(NM_000173.5):c.206C>T (p.(Pro69Leu)), GP1BA(NM_000173.7):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4932810C>T" "" "benign" "" "0000562217" "0" "30" "17" "4836105" "4836105" "subst" "0.00175431" "02326" "GP1BA_000078" "g.4836105C>T" "" "" "" "GP1BA(NM_000173.5):c.206C>T (p.(Pro69Leu)), GP1BA(NM_000173.7):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4932810C>T" "" "likely benign" "" "0000562218" "0" "30" "17" "4836114" "4836114" "subst" "0.00158797" "01943" "GP1BA_000079" "g.4836114G>A" "" "" "" "GP1BA(NM_000173.5):c.215G>A (p.R72H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4932819G>A" "" "likely benign" "" "0000562219" "0" "90" "17" "4836174" "4836174" "del" "0" "02327" "GP1BA_000047" "g.4836174del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4932879del" "" "pathogenic" "" "0000562220" "0" "50" "17" "4836861" "4836861" "subst" "4.06121E-6" "02327" "GP1BA_000080" "g.4836861C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4933566C>A" "" "VUS" "" "0000616680" "0" "70" "17" "4836254" "4836254" "dup" "0" "02327" "GP1BA_000083" "g.4836254dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4932959dup" "" "likely pathogenic" "" "0000616681" "0" "10" "17" "4836973" "4836973" "subst" "0.0688545" "02327" "GP1BA_000084" "g.4836973A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.4933678A>G" "" "benign" "" "0000649642" "1" "10" "17" "4836673" "4836673" "subst" "0.0218113" "03575" "GP1BA_000066" "g.4836673C>T" "29/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous, no homozygous; {DB:CLININrs6066}" "Germline" "" "rs6066" "0" "" "" "g.4933378C>T" "" "benign" "" "0000673978" "11" "70" "17" "4836636" "4836636" "subst" "0" "03695" "GP1BA_000026" "g.4836636G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000709026" "0" "90" "17" "4836591" "4836591" "subst" "0" "01882" "GP1BA_000085" "g.4836591A>G" "" "" "" "g.1000A>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000726501" "0" "70" "17" "4836348" "4836348" "subst" "0" "02327" "GP1BA_000086" "g.4836348A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726502" "0" "10" "17" "4836381" "4836381" "subst" "0.0980009" "02327" "GP1BA_000009" "g.4836381C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726503" "0" "10" "17" "4837210" "4837210" "subst" "0.381156" "02327" "GP1BA_000087" "g.4837210A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726504" "0" "50" "17" "4837744" "4837748" "del" "0.000398235" "02327" "GP1BA_000088" "g.4837744_4837748del" "" "" "" "GP1BA(NM_000173.7):c.1845_1849del (p.(Asn616ProfsTer29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808086" "0" "30" "17" "4835995" "4835995" "subst" "0" "01943" "GP1BA_000089" "g.4835995C>T" "" "" "" "GP1BA(NM_000173.5):c.96C>T (p.N32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808087" "0" "50" "17" "4837715" "4837715" "subst" "1.21855E-5" "01943" "GP1BA_000090" "g.4837715C>T" "" "" "" "GP1BA(NM_000173.5):c.1816C>T (p.R606C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000841237" "1" "70" "17" "4836137" "4836137" "subst" "0" "01882" "GP1BA_000091" "g.4836137A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACGS" "0000841238" "2" "70" "17" "4836591" "4836591" "subst" "0" "01882" "GP1BA_000085" "g.4836591A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACGS" "0000854993" "0" "70" "17" "4836644" "4836644" "subst" "0" "02327" "GP1BA_000017" "g.4836644G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000894034" "0" "30" "17" "4837070" "4837070" "subst" "0.00133261" "02326" "GP1BA_000092" "g.4837070C>T" "" "" "" "GP1BA(NM_000173.7):c.1171C>T (p.P391S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914890" "0" "30" "17" "4837131" "4837131" "subst" "0.000963967" "02326" "GP1BA_000093" "g.4837131C>T" "" "" "" "GP1BA(NM_000173.7):c.1232C>T (p.P411L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914891" "0" "50" "17" "4837662" "4837662" "subst" "0.000263979" "02327" "GP1BA_000094" "g.4837662T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914892" "0" "30" "17" "4837783" "4837783" "subst" "1.62668E-5" "02325" "GP1BA_000095" "g.4837783C>T" "" "" "" "GP1BA(NM_000173.7):c.1884C>T (p.P628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930816" "0" "30" "17" "4836157" "4836157" "subst" "0" "02326" "GP1BA_000096" "g.4836157C>T" "" "" "" "GP1BA(NM_000173.7):c.258C>T (p.L86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930817" "0" "30" "17" "4837132" "4837170" "del" "6.16199E-5" "02326" "GP1BA_000097" "g.4837132_4837170del" "" "" "" "GP1BA(NM_000173.7):c.1219_1296delins39 (p.S441_T453del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969060" "0" "50" "17" "4841334" "4841334" "subst" "8.12216E-6" "02327" "GP1BA_000098" "g.4841334T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969061" "0" "30" "17" "4842257" "4842257" "subst" "0.00207976" "02327" "GP1BA_000099" "g.4842257G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982620" "0" "30" "17" "4836289" "4836289" "subst" "9.74888E-5" "02326" "GP1BA_000100" "g.4836289G>A" "" "" "" "GP1BA(NM_000173.7):c.390G>A (p.S130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003401" "0" "30" "17" "4836105" "4836105" "subst" "0.00175431" "01804" "GP1BA_000078" "g.4836105C>T" "" "" "" "GP1BA(NM_000173.5):c.206C>T (p.(Pro69Leu)), GP1BA(NM_000173.7):c.206C>T (p.P69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003402" "0" "30" "17" "4836233" "4836233" "subst" "5.28146E-5" "01804" "GP1BA_000101" "g.4836233G>A" "" "" "" "GP1BA(NM_000173.5):c.334G>A (p.(Gly112Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003403" "0" "30" "17" "4837317" "4837317" "subst" "1.63968E-5" "01804" "GP1BA_000102" "g.4837317C>T" "" "" "" "GP1BA(NM_000173.5):c.1418C>T (p.(Thr473Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026979" "0" "30" "17" "4841381" "4841381" "subst" "2.43744E-5" "02327" "GP1BA_000103" "g.4841381G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041962" "0" "30" "17" "4837171" "4837171" "subst" "0" "02325" "GP1BA_000104" "g.4837171G>A" "" "" "" "GP1BA(NM_000173.7):c.1272G>A (p.P424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041963" "0" "50" "17" "4837744" "4837748" "del" "0.000398235" "01804" "GP1BA_000088" "g.4837744_4837748del" "" "" "" "GP1BA(NM_000173.7):c.1845_1849del (p.(Asn616ProfsTer29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001061208" "0" "30" "17" "4836105" "4836105" "subst" "0.00175431" "00006" "GP1BA_000078" "g.4836105C>T" "" "{PMID:Ghevaert 2008:18065693}" "" "" "" "Germline" "no" "" "0" "" "" "g.4932810C>T" "" "benign" "" "0001061243" "11" "50" "17" "4836381" "4836381" "subst" "0.0980009" "00006" "GP1BA_000009" "g.4836381C>T" "" "{PMID:Kuijpers 1992:1346615}" "SfaNI+;Aha2-" "434C>T (Thr145Met)" "variant causes fetomaternal platelet incompatibility with maternal antibodies crossing the placenta" "Germline" "" "" "0" "" "" "g.4933086C>T" "" "pathogenic (paternal)" "" ## 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 GP1BA ## Count = 181 "{{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}}" "0000036419" "00008735" "90" "555" "0" "590" "0" "c.555_590del" "r.(?)" "p.(Asn185_Glu197delinsLys)" "2" "" "0000036420" "00008735" "90" "1" "0" "1" "0" "c.1A>C" "r.(?)" "p.(Met1?)" "2" "" "0000036421" "00008735" "70" "23" "0" "31" "0" "c.23_31del" "r.(?)" "p.(Leu8_Leu10del)" "2" "" "0000036422" "00008735" "50" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Arg36Gly)" "2" "" "0000036437" "00008735" "90" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Lys35Argfs*4)" "2" "" "0000036438" "00008735" "90" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Lys35Argfs*4)" "2" "" "0000036443" "00008735" "90" "416" "0" "416" "0" "c.416T>C" "r.(?)" "p.(Leu139Pro)" "2" "" "0000036446" "00008735" "90" "438" "0" "438" "0" "c.438C>G" "r.(?)" "p.(Tyr146*)" "2" "" "0000036447" "00008735" "90" "584" "0" "586" "0" "c.584_586del" "r.(?)" "p.(Leu195del)" "2" "" "0000036449" "00008735" "90" "584" "0" "586" "0" "c.584_586del" "r.(?)" "p.(Leu195del)" "2" "" "0000036452" "00008735" "90" "673" "0" "673" "0" "c.673T>A" "r.(?)" "p.(Cys225Ser)" "2" "" "0000036454" "00008735" "90" "103" "0" "103" "0" "c.103A>T" "r.(?)" "p.(Lys35*)" "2" "" "0000036456" "00008735" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Gln196*)" "2" "" "0000036458" "00008735" "90" "1601" "0" "1602" "0" "c.1601_1602delinsTGG" "r.(?)" "p.(Tyr534Leufs*83)" "2" "" "0000036459" "00008735" "90" "154" "0" "154" "0" "c.154dup" "r.(?)" "p.(Leu52Profs*5)" "2" "" "0000036474" "00008735" "90" "165" "0" "168" "0" "c.165_168del" "r.(?)" "p.(Ser55Argfs*12)" "2" "" "0000036475" "00008735" "90" "339" "0" "340" "0" "c.339_340insGA" "r.(?)" "p.(Thr114Glufs*16)" "2" "" "0000036476" "00008735" "90" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Asn126Asp)" "2" "" "0000036477" "00008735" "90" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Asn126Asp)" "2" "" "0000036478" "00008735" "90" "584" "0" "586" "0" "c.584_586del" "r.(?)" "p.(Leu195del)" "2" "" "0000036479" "00008735" "90" "667" "0" "667" "0" "c.667T>G" "r.(?)" "p.(Trp223Gly)" "2" "" "0000036480" "00008735" "90" "673" "0" "673" "0" "c.673T>A" "r.(?)" "p.(Cys225Ser)" "2" "" "0000036481" "00008735" "90" "673" "0" "673" "0" "c.673T>A" "r.(?)" "p.(Cys225Ser)" "2" "" "0000036482" "00008735" "90" "673" "0" "673" "0" "c.673T>A" "r.(?)" "p.(Cys225Ser)" "2" "" "0000036483" "00008735" "90" "882" "0" "882" "0" "c.882C>G" "r.(?)" "p.(Tyr294*)" "2" "" "0000036484" "00008735" "90" "1094" "0" "1101" "0" "c.1094_1101del" "r.(?)" "p.(Leu365Argfs*14)" "2" "" "0000036485" "00008735" "90" "1257" "0" "1257" "0" "c.1257dup" "r.(?)" "p.(Ser420Glnfs*78)" "2" "" "0000036486" "00008735" "90" "1457" "0" "1457" "0" "c.1457C>A" "r.(?)" "p.(Ser486*)" "2" "" "0000036488" "00008735" "90" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Trp359*)" "2" "" "0000036494" "00008735" "90" "103" "0" "103" "0" "c.103A>T" "r.(?)" "p.(Lys35*)" "2" "" "0000036495" "00008735" "90" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Lys35Argfs*4)" "2" "" "0000036498" "00008735" "90" "236" "0" "236" "0" "c.236dup" "r.(?)" "p.(Asp79Glufs*2)" "2" "" "0000036501" "00008735" "90" "266" "0" "266" "0" "c.266dup" "r.(?)" "p.(Asp89Glufs*63)" "2" "" "0000036505" "00008735" "90" "275" "0" "275" "0" "c.275del" "r.(?)" "p.(Leu92Argfs*20)" "2" "" "0000036509" "00008735" "90" "278" "0" "278" "0" "c.278dup" "r.(?)" "p.(Val94Serfs*58)" "2" "" "0000036511" "00008735" "90" "434" "0" "434" "0" "c.434T>C" "r.(?)" "p.(Leu145Pro)" "2" "" "0000036513" "00008735" "90" "434" "0" "434" "0" "c.434T>C" "r.(?)" "p.(Leu145Pro)" "2" "" "0000036514" "00008735" "90" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "2" "" "0000036515" "00008735" "90" "785" "0" "785" "0" "c.785T>G" "r.(?)" "p.(Val262Gly)" "2" "" "0000036516" "00008735" "90" "932" "0" "933" "0" "c.932_933del" "r.(?)" "p.(Val311Glyfs*39)" "2" "" "0000036517" "00008735" "90" "941" "0" "941" "0" "c.941dup" "r.(?)" "p.(Thr316Hisfs*35)" "2" "" "0000036518" "00008735" "90" "1012" "0" "1012" "0" "c.1012dup" "r.(?)" "p.(Met338Asnfs*13)" "2" "" "0000036519" "00008735" "90" "1064" "0" "1064" "0" "c.1064dup" "r.(?)" "p.(Pro357Thrfs*2)" "2" "" "0000036520" "00008735" "90" "1077" "0" "1077" "0" "c.1077del" "r.(?)" "p.(Trp359*)" "2" "" "0000036521" "00008735" "90" "1436" "0" "1436" "0" "c.1436dup" "r.(?)" "p.(Leu479Phefs*19)" "2" "" "0000036522" "00008735" "90" "1454" "0" "1454" "0" "c.1454dup" "r.(?)" "p.(Ser486Ilefs*12)" "2" "" "0000036523" "00008735" "90" "1454" "0" "1454" "0" "c.1454dup" "r.(?)" "p.(Ser486Ilefs*12)" "2" "" "0000036524" "00008735" "90" "1465" "0" "1465" "0" "c.1465del" "r.(?)" "p.(Glu489Asnfs*64)" "2" "" "0000036525" "00008735" "90" "1480" "0" "1480" "0" "c.1480del" "r.(?)" "p.(Thr494Profs*59)" "2" "" "0000036528" "00008735" "90" "1480" "0" "1480" "0" "c.1480del" "r.(?)" "p.(Thr494Profs*59)" "2" "" "0000036530" "00008735" "90" "1592" "0" "1592" "0" "c.1592del" "r.(?)" "p.(Leu531Argfs*22)" "2" "" "0000036531" "00008735" "90" "1601" "0" "1602" "0" "c.1601_1602del" "r.(?)" "p.(Tyr534Cysfs*82)" "2" "" "0000036533" "00008735" "90" "1601" "0" "1602" "0" "c.1601_1602del" "r.(?)" "p.(Tyr534Cysfs*82)" "2" "" "0000036535" "00008735" "90" "1601" "0" "1602" "0" "c.1601_1602del" "r.(?)" "p.(Tyr534Cysfs*82)" "2" "" "0000036544" "00008735" "90" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Gln587*)" "2" "" "0000036545" "00008735" "90" "165" "0" "168" "0" "c.165_168del" "r.(?)" "p.(Ser55Argfs*12)" "2" "" "0000036546" "00008735" "90" "1601" "0" "1602" "0" "c.1601_1602del" "r.(?)" "p.(Tyr534Cysfs*82)" "2" "" "0000036547" "00008735" "90" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Cys81Arg)" "2" "" "0000036548" "00008735" "90" "1620" "0" "1620" "0" "c.1620G>A" "r.(?)" "p.(Trp540*)" "2" "" "0000036549" "00008735" "90" "434" "0" "434" "0" "c.434T>C" "r.(?)" "p.(Leu145Pro)" "2" "" "0000036550" "00008735" "90" "1601" "0" "1602" "0" "c.1601_1602del" "r.(?)" "p.(Tyr534Cysfs*82)" "2" "" "0000036552" "00008735" "90" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "2" "" "0000036553" "00008735" "90" "555" "0" "590" "0" "c.555_590del" "r.(?)" "p.(Asn185_Glu197delinsLys)" "2" "" "0000036556" "00008735" "90" "673" "0" "673" "0" "c.673T>A" "r.(?)" "p.(Cys225Ser)" "2" "" "0000036557" "00008735" "90" "1454" "0" "1454" "0" "c.1454dup" "r.(?)" "p.(Ser486Ilefs*12)" "2" "" "0000036559" "00008735" "90" "1039" "0" "1039" "0" "c.1039G>T" "r.(?)" "p.(Glu347*)" "2" "" "0000036561" "00008735" "90" "1480" "0" "1480" "0" "c.1480del" "r.(?)" "p.(Thr494Profs*59)" "2" "" "0000036562" "00008735" "90" "1454" "0" "1454" "0" "c.1454dup" "r.(?)" "p.(Ser486Ilefs*12)" "2" "" "0000036564" "00008735" "90" "1480" "0" "1480" "0" "c.1480del" "r.(?)" "p.(Thr494Profs*59)" "2" "" "0000281115" "00008735" "10" "-5" "0" "-5" "0" "c.-5T>C" "r.(?)" "p.(=)" "" "" "0000284757" "00008735" "10" "2056" "0" "2056" "0" "c.*97dup" "r.(?)" "p.(=)" "" "" "0000284758" "00008735" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Thr435=)" "" "" "0000288601" "00008735" "10" "1284" "0" "1294" "0" "c.1284_1294del" "r.(?)" "p.(Glu429GlnfsTer65)" "" "" "0000288602" "00008735" "10" "1311" "0" "1349" "0" "c.1311_1349del" "r.(?)" "p.(Ser441_Thr453del)" "" "" "0000325134" "00008735" "30" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Arg36Gly)" "" "" "0000340182" "00008735" "10" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Asn258=)" "" "" "0000340185" "00008735" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Thr435=)" "" "" "0000439341" "00008735" "50" "793" "0" "793" "0" "c.793G>T" "r.(?)" "p.(Asp265Tyr)" "2" "" "0000439342" "00008735" "90" "217" "0" "217" "0" "c.217C>T" "r.217c>u" "p.Leu73Phe" "2" "" "0000439343" "00008735" "90" "217" "0" "217" "0" "c.217C>T" "r.217c>u" "p.Leu73Phe" "2" "" "0000439344" "00008735" "90" "217" "0" "217" "0" "c.217C>T" "r.217c>u" "p.Leu73Phe" "2" "" "0000439345" "00008735" "90" "217" "0" "217" "0" "c.217C>T" "r.217c>u" "p.Leu73Phe" "2" "" "0000439346" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439347" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439348" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439349" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439350" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439351" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439352" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439353" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439354" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439355" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439356" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439357" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439358" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439359" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439360" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439361" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439362" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439363" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439364" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439365" "00008735" "50" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000439366" "00008735" "50" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000439367" "00008735" "11" "1305" "0" "1305" "0" "c.1305C>T" "r.(=)" "p.(=)" "2" "C\'" "0000439368" "00008735" "90" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Trp359*)" "2" "" "0000439369" "00008735" "90" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Trp359*)" "2" "" "0000439370" "00008735" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "2" "" "0000439375" "00008735" "90" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Met255Val)" "2" "" "0000439376" "00008735" "90" "1620" "0" "1620" "0" "c.1620G>A" "r.(?)" "p.(Trp540*)" "2" "" "0000439378" "00008735" "51" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Thr161Met)" "2" "" "0000439379" "00008735" "90" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Gly249Ser)" "2" "" "0000439380" "00008735" "90" "208" "0" "208" "0" "c.208T>G" "r.(?)" "p.(Tyr70Asp)" "2" "" "0000439381" "00008735" "90" "668" "0" "668" "0" "c.668G>C" "r.(?)" "p.(Trp223Ser)" "2" "" "0000439384" "00008735" "90" "376" "0" "376" "0" "c.376A>G" "r.(?)" "p.(Asn126Asp)" "2" "" "0000439385" "00008735" "90" "169" "0" "169" "0" "c.169A>C" "r.(?)" "p.(Asn57His)" "2" "" "0000439386" "00008735" "90" "667" "0" "667" "0" "c.667T>G" "r.(?)" "p.(Trp223Gly)" "2" "" "0000439388" "00008735" "90" "1185" "0" "1185" "0" "c.1185C>D" "r.(=)" "p.(Pro395=)" "2" "" "0000439389" "00008735" "90" "737" "0" "737" "0" "c.737G>T" "r.(?)" "p.(Trp246Leu)" "2" "" "0000439390" "00008735" "90" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Met255Val)" "2" "" "0000439391" "00008735" "50" "-5" "0" "-5" "0" "c.-5T>C" "r.(?)" "p.(=)" "2" "" "0000439392" "00008735" "10" "1266" "0" "1266" "0" "c.1266C>T" "r.(=)" "p.(Thr422=)" "" "" "0000439393" "00008735" "10" "1233" "0" "1233" "0" "c.1233A>G" "r.(=)" "p.(.Pro411=)" "" "" "0000441196" "00008735" "90" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Gly249Ser)" "2" "" "0000441197" "00008735" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "" "" "0000441198" "00008735" "90" "746" "0" "746" "0" "c.746G>T" "r.(?)" "p.(Gly249Val)" "" "" "0000441199" "00008735" "90" "751" "0" "751" "0" "c.751G>T" "r.(?)" "p.(Asp251Tyr)" "" "" "0000441200" "00008735" "90" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Met255Val)" "" "" "0000441201" "00008735" "90" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Met255Val)" "" "" "0000441202" "00008735" "90" "763" "0" "763" "0" "c.763A>G" "r.(?)" "p.(Met255Val)" "" "" "0000441203" "00008735" "10" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Thr161Met)" "" "" "0000441204" "00008735" "11" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Leu86Phe)" "2" "" "0000441205" "00008735" "11" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Thr161Met)" "2" "" "0000441206" "00008735" "90" "1385" "0" "1411" "0" "c.1385_1411del" "r.1385_1411del" "p.Pro462_Ser470del" "2" "" "0000441207" "00008735" "11" "1282" "0" "1359" "0" "c.1282_1359del" "r.(1282_1359del)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000441208" "00008735" "10" "1233" "0" "1349" "0" "c.1233_1349del" "r.(?)" "p.(Ser415_Thr453del)" "2" "" "0000441209" "00008735" "10" "1282" "0" "1359" "0" "c.1282_1359del" "r.(?)" "p.(Ser428_Thr453del)" "2" "D Ser415_Thr427[1]" "0000441210" "00008735" "11" "1272" "0" "1310" "0" "c.1272_1310dup" "r.1272_1310dup" "p.(" "" "A Ser415_Thr427[4]" "0000441211" "00008735" "51" "1243" "0" "1359" "0" "c.1243_1359=" "r.(1243_1359=)" "p.(Ser415_Thr453=)" "2" "B Ser415_Thr427[3]" "0000441212" "00008735" "11" "1243" "0" "1359" "0" "c.1243_1359=" "r.1243_1359=" "p.Ser415_Thr453=" "2" "B Ser415_Thr427[3]" "0000441213" "00008735" "11" "1321" "0" "1359" "0" "c.1321_1359del" "r.1321_1359del" "p.Ser441_Thr453del" "2" "C Ser415_Thr427[2]" "0000441214" "00008735" "10" "-5" "0" "-5" "0" "c.-5T>C" "r.(=)" "p.(=)" "" "" "0000441215" "00008735" "11" "1321" "0" "1359" "0" "c.1321_1359del" "r.(?)" "p.(Ser441_Thr453del)" "2" "C Ser415_Thr427[2]" "0000441216" "00008735" "99" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "2" "" "0000441217" "00008735" "99" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Ala172Val)" "2" "" "0000441219" "00008735" "50" "1600" "0" "1600" "0" "c.1600T>C" "r.(?)" "p.(Tyr534His)" "" "" "0000562216" "00008735" "10" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "" "0000562217" "00008735" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "" "0000562218" "00008735" "30" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Arg72His)" "" "" "0000562219" "00008735" "90" "275" "0" "275" "0" "c.275del" "r.(?)" "p.(Leu92ArgfsTer20)" "" "" "0000562220" "00008735" "50" "962" "0" "962" "0" "c.962C>A" "r.(?)" "p.(Thr321Asn)" "" "" "0000616680" "00008735" "70" "355" "0" "355" "0" "c.355dup" "r.(?)" "p.(Thr119AsnfsTer33)" "" "" "0000616681" "00008735" "10" "1074" "0" "1074" "0" "c.1074A>G" "r.(?)" "p.(Arg358=)" "" "" "0000649642" "00008735" "10" "774" "0" "774" "0" "c.774C>T" "r.(=)" "p.(=)" "" "" "0000673978" "00008735" "70" "737" "0" "737" "0" "c.737G>T" "r.(?)" "p.(Trp246Leu)" "" "" "0000709026" "00008735" "90" "692" "0" "692" "0" "c.692A>G" "r.(692a>g)" "p.(Tyr231Cys)" "2" "" "0000726501" "00008735" "70" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(Asn150Ser)" "" "" "0000726502" "00008735" "10" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Thr161Met)" "" "" "0000726503" "00008735" "10" "1311" "0" "1311" "0" "c.1311A>G" "r.(?)" "p.(Pro437=)" "" "" "0000726504" "00008735" "50" "1845" "0" "1849" "0" "c.1845_1849del" "r.(?)" "p.(Asn616Profs*29)" "" "" "0000808086" "00008735" "30" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(Asn32=)" "" "" "0000808087" "00008735" "50" "1816" "0" "1816" "0" "c.1816C>T" "r.(?)" "p.(Arg606Cys)" "" "" "0000841237" "00008735" "70" "238" "0" "238" "0" "c.238A>G" "r.(?)" "p.(Arg80Gly)" "" "" "0000841238" "00008735" "70" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "" "0000854993" "00008735" "70" "745" "0" "745" "0" "c.745G>A" "r.(?)" "p.(Gly249Ser)" "" "" "0000894034" "00008735" "30" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "" "0000914890" "00008735" "30" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Pro411Leu)" "" "" "0000914891" "00008735" "50" "1763" "0" "1763" "0" "c.1763T>C" "r.(?)" "p.(Val588Ala)" "" "" "0000914892" "00008735" "30" "1884" "0" "1884" "0" "c.1884C>T" "r.(?)" "p.(Pro628=)" "" "" "0000930816" "00008735" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(=)" "" "" "0000930817" "00008735" "30" "1233" "0" "1271" "0" "c.1233_1271del" "r.(?)" "p.(Ser441_Thr453del)" "" "" "0000969060" "00008735" "50" "5435" "0" "5435" "0" "c.*3476T>G" "r.(=)" "p.(=)" "" "" "0000969061" "00008735" "30" "6358" "0" "6358" "0" "c.*4399G>A" "r.(=)" "p.(=)" "" "" "0000982620" "00008735" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(=)" "" "" "0001003401" "00008735" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "" "0001003402" "00008735" "30" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Gly112Arg)" "" "" "0001003403" "00008735" "30" "1418" "0" "1418" "0" "c.1418C>T" "r.(?)" "p.(Thr473Ile)" "" "" "0001026979" "00008735" "30" "5482" "0" "5482" "0" "c.*3523G>A" "r.(=)" "p.(=)" "" "" "0001041962" "00008735" "30" "1272" "0" "1272" "0" "c.1272G>A" "r.(?)" "p.(=)" "" "" "0001041963" "00008735" "50" "1845" "0" "1849" "0" "c.1845_1849del" "r.(?)" "p.(Asn616Profs*29)" "" "" "0001061208" "00008735" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Pro69Leu)" "" "" "0001061243" "00008735" "50" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Thr161Met)" "" "HPA-2;KO" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 134 "{{screeningid}}" "{{variantid}}" "0000016550" "0000036419" "0000016551" "0000036420" "0000016552" "0000036421" "0000016552" "0000036422" "0000016569" "0000036437" "0000016572" "0000036438" "0000016576" "0000036443" "0000016579" "0000036446" "0000016580" "0000036447" "0000016582" "0000036449" "0000016585" "0000036452" "0000016585" "0000036454" "0000016588" "0000036456" "0000016588" "0000036458" "0000016591" "0000036459" "0000016606" "0000036474" "0000016607" "0000036475" "0000016608" "0000036476" "0000016609" "0000036477" "0000016610" "0000036478" "0000016611" "0000036479" "0000016612" "0000036480" "0000016613" "0000036481" "0000016614" "0000036482" "0000016615" "0000036483" "0000016616" "0000036484" "0000016617" "0000036485" "0000016617" "0000439392" "0000016618" "0000036486" "0000016620" "0000036488" "0000016624" "0000036494" "0000016625" "0000036495" "0000016629" "0000036498" "0000016632" "0000036501" "0000016636" "0000036505" "0000016640" "0000036509" "0000016642" "0000036511" "0000016644" "0000036513" "0000016645" "0000036514" "0000016646" "0000036515" "0000016647" "0000036516" "0000016648" "0000036517" "0000016649" "0000036518" "0000016650" "0000036519" "0000016651" "0000036520" "0000016652" "0000036521" "0000016653" "0000036522" "0000016654" "0000036523" "0000016655" "0000036524" "0000016656" "0000036525" "0000016661" "0000036528" "0000016662" "0000036530" "0000016663" "0000036531" "0000016665" "0000036533" "0000016668" "0000036535" "0000016674" "0000036544" "0000016675" "0000036545" "0000016675" "0000036546" "0000016676" "0000036547" "0000016676" "0000036548" "0000016677" "0000036549" "0000016677" "0000036550" "0000016679" "0000036552" "0000016679" "0000036553" "0000016681" "0000036556" "0000016681" "0000036557" "0000016684" "0000036559" "0000016684" "0000036561" "0000016686" "0000036562" "0000016686" "0000036564" "0000016690" "0000441219" "0000016759" "0000439393" "0000209208" "0000439341" "0000209209" "0000439342" "0000209210" "0000439343" "0000209211" "0000439344" "0000209212" "0000439345" "0000209213" "0000439346" "0000209214" "0000439347" "0000209215" "0000439348" "0000209216" "0000439349" "0000209217" "0000439350" "0000209217" "0000441211" "0000209218" "0000439351" "0000209219" "0000439352" "0000209220" "0000439353" "0000209221" "0000439354" "0000209222" "0000439355" "0000209222" "0000439356" "0000209223" "0000439357" "0000209223" "0000439358" "0000209224" "0000439359" "0000209224" "0000439360" "0000209225" "0000439361" "0000209225" "0000439362" "0000209226" "0000439363" "0000209227" "0000439364" "0000209228" "0000439365" "0000209229" "0000439366" "0000209229" "0000439367" "0000209230" "0000439368" "0000209231" "0000439369" "0000209232" "0000439370" "0000209237" "0000439375" "0000209238" "0000439376" "0000209240" "0000439378" "0000209241" "0000439379" "0000209242" "0000439380" "0000209243" "0000439381" "0000209246" "0000439384" "0000209247" "0000439385" "0000209248" "0000439386" "0000209251" "0000439389" "0000209252" "0000439390" "0000210043" "0000441196" "0000210044" "0000441197" "0000210045" "0000441198" "0000210046" "0000441199" "0000210047" "0000441200" "0000210047" "0000441203" "0000210048" "0000441201" "0000210049" "0000441202" "0000210050" "0000441206" "0000210050" "0000441214" "0000210050" "0000441215" "0000210052" "0000441216" "0000210053" "0000441217" "0000292953" "0000649642" "0000307352" "0000673978" "0000325871" "0000709026" "0000404997" "0000841237" "0000404997" "0000841238" "0000472568" "0001061208" "0000472595" "0001061243"