### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKLR) # 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}}" "PKLR" "pyruvate kinase, liver and RBC" "1" "q22" "unknown" "NG_011677.1" "UD_132085327854" "" "https://www.LOVD.nl/PKLR" "" "1" "9020" "5313" "609712" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PKLR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-02-17 09:27:59" "00000" "2025-11-01 13:22:20" ## 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}}" "00016246" "PKLR" "transcript variant 1" "001" "NM_000298.5" "" "NP_000289.1" "" "" "" "-39" "3004" "1725" "155271225" "155259084" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00310" "favism" "favism, susceptibility to" "" "134700" "" "" "X-linked dominant; merged with OMIM 305900" "00006" "2014-01-24 11:35:49" "00006" "2019-08-05 19:51:00" "01164" "-" "adenosine triphosphate, elevated" "AD" "102900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-02-17 09:10:50" "01971" "CIPA" "pain insensitivity, congenital, with anhidrosis (CIPA)" "AR" "256800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-10-27 15:31:57" "02045" "pyr.kin. deficiency" "pyruvate kinase deficiency" "AR" "266200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-02-17 09:10:02" "05120" "anemia" "anemia" "" "" "" "" "" "00006" "2016-01-23 01:57:01" "00006" "2025-09-17 10:06:25" "05471" "PVNH7" "heterotopia, nodular, periventricular, type 7" "AD" "617201" "" "autosomal dominant" "" "00006" "2018-08-24 17:08:46" "00006" "2024-04-19 19:00:58" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PKLR" "01164" "PKLR" "02045" ## Individuals ## Do not remove or alter this header ## ## Count = 862 "{{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}}" "00217266" "" "" "" "1" "" "00052" "{PMID:Indo 2001:11668614}" "" "M" "" "United States" "" "0" "" "" "Mexico" "11668614-KI115" "00228901" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2003:12393511}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Denmark" "" "0" "" "" "" "Pat1" "00228902" "" "" "" "4" "" "01679" "{PMID:Van Wijk 2003:12393511}" "4 unaffected compound heterozygous carriers" "" "" "Denmark" "" "0" "" "" "" "carriers" "00228903" "" "" "" "34" "" "01679" "{PMID:Van Wijk 2003:12393511}" "analysis 241 controls" "" "" "Denmark" "" "0" "" "" "" "control" "00228904" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2003:12393511}" "analysis 241 controls" "" "" "Denmark" "" "0" "" "" "" "control" "00228905" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam4" "00228906" "" "" "" "1" "" "01679" "" "" "" "" "Spain" "" "0" "" "" "" "" "00228907" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam54" "00228908" "" "" "" "1" "" "01679" "" "" "" "" "Germany" "" "0" "" "" "" "" "00228909" "" "" "" "1" "" "01679" "{PMID:Marcello 2008:18708292}" "" "M" "" "Italy" "" "0" "" "" "" "patient" "00228910" "" "" "" "1" "" "01679" "{PMID:Manco 2000:11054094}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat3" "00228911" "" "" "" "1" "" "01679" "{PMID:Manco 2000:11054094}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat4" "00228912" "" "" "" "1" "" "01679" "{PMID:Manco 2000:11054094}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat1" "00228913" "" "" "" "1" "" "01679" "{PMID:Manco 2000:11054094}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat2" "00228914" "" "" "" "1" "" "01679" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00228915" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}" "" "" "" "Italy" "" "0" "" "" "" "Pat19" "00228916" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "African American" "Pat10" "00228917" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat16" "00228918" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}" "" "F" "" "Italy" "" "0" "" "" "" "PP" "00228919" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}" "" "F" "" "Italy" "" "0" "" "" "" "SI" "00228920" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}" "" "M" "" "Italy" "" "0" "" "" "" "RGC" "00228921" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}" "" "F" "" "Italy" "" "0" "" "" "" "MC" "00228922" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "Italy" "" "0" "" "" "" "Pat3" "00228923" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "Italy" "" "0" "" "" "" "Pat6" "00228924" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "Italy" "" "0" "" "" "" "Pat7" "00228925" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "Italy" "" "0" "" "" "" "Pat12" "00228926" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}" "" "" "" "Italy" "" "0" "" "" "" "Pat7" "00228927" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat11;Pat25" "00228928" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}" "" "" "" "Italy" "" "0" "" "" "" "Pat22" "00228929" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam39" "00228930" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam40" "00228931" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam41" "00228932" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam42" "00228933" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam43" "00228934" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam44" "00228935" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam45" "00228936" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam46" "00228937" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam47" "00228938" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam48" "00228939" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam49" "00228940" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam50" "00228941" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam51" "00228942" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam52" "00228943" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam53" "00228944" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam55" "00228945" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam56" "00228946" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat8;Pat8" "00228948" "" "" "" "29" "" "01679" "{PMID:Beutler 1997:9090535}, Zürcher 1965" "65-member 3-generation family, 29 affected; family also segregating beta-thalassemia" "F;M" "" "Netherlands" "" "0" "" "" "" "family" "00228949" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat23" "00228950" "" "" "" "1" "" "01679" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "" "" "Japan" "" "0" "" "" "" "" "00228951" "" "" "" "1" "" "01679" "" "" "" "" "China" "" "0" "" "" "" "" "00228952" "" "" "" "2" "" "01679" "{PMID:Van Wijk 2009:19085939}" "2-generation family, 2 affected sisters" "F" "" "Netherlands" "" "0" "" "" "" "Pat26" "00228953" "" "" "" "1" "" "01679" "" "" "" "" "Iran" "" "0" "" "" "" "" "00228954" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "F" "" "Germany" "" "0" "" "" "" "Pat1" "00228955" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Czech Republic" "" "0" "" "" "" "Pat30" "00228956" "" "" "" "1" "" "01679" "{PMID:Uenaka 1995:7702630}" "" "M" "" "Japan" "" "0" "" "" "" "patient" "00228957" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "F" "" "Germany" "" "0" "" "" "" "Pat2" "00228958" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00228959" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Oman" "" "0" "" "" "" "Pat12; Pat5" "00228960" "" "" "" "2" "" "01679" "{PMID:Van Wijk 2009:19085939}" "2-generation family, 2 affected sisters" "F" "" "Netherlands" "" "0" "" "" "" "Pat4" "00228961" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat2;Pat17" "00228962" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00228963" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00228964" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Australia" "" "0" "" "" "" "Pat6;Pat4" "00228965" "" "" "" "1" "" "01679" "" "" "" "" "China" "" "0" "" "" "" "" "00228966" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "DM;Pat1" "00228967" "" "" "" "1" "" "01679" "{PMID:Kanno 1997:9166866}" "" "F" "" "Japan" "" "0" "" "" "" "PatAomori" "00228968" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam16" "00228969" "" "" "" "1" "" "01679" "{PMID:Costa 2005:15642665}" "3-generation family" "" "" "Viet Nam" "" "0" "" "" "" "Fam1" "00228970" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat14" "00228971" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat6" "00228972" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "African American" "Pat1" "00228973" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat1" "00228974" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat6" "00228975" "" "" "00228960" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "sister" "F" "" "Netherlands" "" "0" "" "" "" "Pat5" "00228976" "" "" "" "1" "" "01679" "{PMID:Rouger 1996:8616073}" "" "" "" "France" "" "0" "" "" "" "Pat2" "00228977" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam5" "00228978" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam36" "00228979" "" "" "" "1" "" "01679" "{PMID:Rouger 1996:8616073}" "" "" "" "France" "" "0" "" "" "" "Pat1" "00228980" "" "" "" "1" "" "01679" "" "" "" "" "Spain" "" "0" "" "" "" "" "00228981" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "M" "" "Germany" "" "0" "" "" "" "Pat3" "00228982" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam11" "00228983" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam14" "00228984" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam23" "00228985" "" "" "" "1" "" "01679" "{PMID:Pissard 2007:17382129}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "white" "Pat4" "00228986" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00228987" "" "" "" "1" "" "01679" "{PMID:Neubauer 1991:2018831}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "yes" "Turkey" "" "0" "" "" "" "FamPatDG" "00228989" "" "" "" "1" "" "01679" "{PMID:Cohen-Solal 1998:9886305}" "" "F" "" "Guinea" "" "0" "" "" "" "patient" "00228990" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat12" "00228991" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Ireland" "" "0" "" "" "" "Pat10;Pat7" "00228992" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat8" "00228993" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00228994" "" "" "" "1" "" "01679" "" "" "" "" "(Denmark)" "" "0" "" "" "" "" "00228995" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00228996" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat3" "00228997" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Denmark" "" "0" "" "" "" "Pat16" "00228998" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Finland" "" "0" "" "" "" "Pat19" "00228999" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Pakistan" "" "0" "" "" "" "Pat13;Pat24" "00229000" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "SR" "00229001" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229003" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Czech Republic" "" "0" "" "" "" "Pat24" "00229004" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat5" "00229005" "" "" "" "1" "" "01679" "{PMID:Demina 1998:9657767}" "" "" "" "United States" "" "0" "" "" "white" "Pat1" "00229006" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat13" "00229007" "" "" "" "1" "" "01679" "{PMID:Neubauer 1991:2018831}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Lebanon" "" "0" "" "" "Turkish" "FamPatMO" "00229008" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Turkey" "" "0" "" "" "Turkish" "Pat36" "00229010" "" "" "00228952" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "sister" "F" "" "Netherlands" "" "0" "" "" "" "Pat27" "00229011" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "MU" "00229012" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat1;Pat2" "00229013" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2004:15059150}" "" "F" "" "Netherlands" "" "0" "" "" "" "patient" "00229014" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "MD" "00229015" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "IF;Pat51" "00229016" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "F" "" "Spain" "" "0" "" "" "" "Pat12" "00229017" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam30" "00229018" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Ireland" "" "0" "" "" "" "Pat9;Pat6" "00229019" "" "" "" "1" "" "01679" "no variant 2nd chromosome" "" "" "" "England" "" "0" "" "" "" "Pat21" "00229020" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "OG" "00229022" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat8;Pat22" "00229023" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat9;Pat23" "00229024" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229025" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229026" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam3" "00229027" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam21" "00229028" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "white" "" "00229029" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "white" "" "00229031" "" "" "" "1" "" "01679" "" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00229032" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat10;Pat6" "00229033" "" "" "" "1" "" "01679" "{PMID:Raphael 2007:17654506}" "" "F" "" "Netherlands" "" "0" "" "" "" "Case1" "00229034" "" "" "" "1" "" "01679" "{PMID:Kanno 1994:7949104}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "" "China" "" "0" "" "" "" "FamHK" "00229035" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat13" "00229036" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat20" "00229037" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat15;Pat41" "00229038" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam2" "00229039" "" "" "" "2" "" "01679" "{PMID:Pissard 2006:16704447}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "Fam28a" "00229040" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam31" "00229041" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "" "Pat6" "00229042" "" "" "" "1" "" "01679" "{PMID:Lakomek 1994:7948315}" "" "F" "" "" "" "0" "" "" "Europe-E" "Case2-VW" "00229043" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "M" "" "Spain" "" "0" "" "" "" "Pat3" "00229044" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "F" "" "Germany" "" "0" "" "" "" "Pat10" "00229045" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat4" "00229046" "" "" "" "1" "" "01679" "{PMID:Percy 2007:17574881}" "" "" "" "Ireland" "" "0" "" "" "" "Pat1" "00229047" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat2" "00229049" "" "" "" "1" "" "01679" "{PMID:Rouger 1996:8616073}" "" "" "" "France" "" "0" "" "" "" "Pat11" "00229050" "" "" "" "1" "" "01679" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00229051" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat18" "00229052" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229053" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "FR;Pat8" "00229054" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat21" "00229055" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam20" "00229056" "" "" "" "1" "" "01679" "" "" "" "" "Ghana" "" "0" "" "" "" "" "00229057" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands Antilles" "" "0" "" "" "" "Pat32" "00229058" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Ghana" "" "0" "" "" "" "Pat14" "00229059" "" "" "" "1" "" "01679" "{PMID:Manco 2009:19320017}" "" "" "" "Portugal" "" "0" "" "" "" "patient" "00229060" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "SC;Pat43" "00229061" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Ireland" "" "0" "" "" "" "Pat8;Pat5" "00229063" "" "" "" "1" "" "01679" "" "" "" "" "France" "" "0" "" "" "" "" "00229064" "" "" "" "1" "" "01679" "" "" "" "" "(Netherlands)" "" "0" "" "" "" "" "00229065" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229066" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "F" "" "Germany" "" "0" "" "" "" "Pat7" "00229067" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat16;Pat31" "00229068" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229069" "" "" "" "1" "" "01679" "{PMID:Aizawa 2003:12949894}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00229070" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam6" "00229071" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "M" "" "Germany" "" "0" "" "" "" "Pat4" "00229072" "" "" "" "1" "" "01679" "{PMID:Demina 1998:9657767}" "" "" "" "India" "" "0" "" "" "" "Pat2" "00229073" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat1" "00229074" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "" "0" "" "" "China" "Pat31" "00229075" "" "" "" "2" "" "01679" "{PMID:Demina 1998:9657767}" "2-generation family, affected sister/brother" "F;M" "" "India" "" "0" "" "" "" "Pat3" "00229076" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "" "" "0" "" "" "Asia" "Pat20" "00229077" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam1" "00229078" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam19" "00229079" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat18;Pat35" "00229080" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "HK" "00229081" "" "" "" "1" "" "01679" "{PMID:Raphael 2007:17654506}, {PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "00y04m" "0" "" "" "" "Case2;Pat29" "00229082" "" "" "" "2" "" "01679" "{PMID:Kanno 1997:9166866}" "dizygotic twin pair," "F" "" "Nepal" "" "0" "" "" "" "PatKowA" "00229083" "" "" "00229082" "1" "" "01679" "{PMID:Kanno 1997:9166866}" "twinB" "F" "" "Nepal" "" "0" "" "" "" "PatKowB" "00229084" "" "" "" "2" "" "01679" "{PMID:Pissard 2006:16704447}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "Fam12" "00229086" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "M" "" "Germany" "" "0" "" "" "" "Pat5" "00229087" "" "" "" "1" "" "01679" "{PMID:Gupta 2007:17191259}" "" "M" "yes" "India" "" "0" "" "" "" "family" "00229088" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "MS" "00229089" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat24" "00229090" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "CA;Pat52" "00229091" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "" "Italy" "" "0" "" "" "" "PL;Pat44" "00229092" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat4" "00229093" "" "" "" "1" "" "01679" "{PMID:Manco 2008:18846674}" "" "" "" "Portugal" "" "0" "" "" "" "patient" "00229094" "" "" "" "1" "" "01679" "" "" "" "" "Colombia" "" "0" "" "" "" "" "00229096" "" "" "" "1" "" "01679" "{PMID:Demina 1998:9657767}" "" "" "" "Portugal" "" "0" "" "" "" "Pat5" "00229097" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat8" "00229098" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "ZM;Pat16" "00229099" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "RG;Pat15" "00229100" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat5;Pat14" "00229101" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat20;Pat45" "00229102" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat21;Pat32" "00229103" "" "" "" "1" "" "01679" "" "" "" "" "Bangladesh" "" "0" "" "" "" "" "00229104" "" "" "" "1" "" "01679" "" "" "" "" "Chile" "" "0" "" "" "" "" "00229105" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat3;Pat3" "00229106" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat9;Pat9" "00229107" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "England" "" "0" "" "" "" "Pat22" "00229108" "" "" "" "1" "" "01679" "{PMID:Pastore 1998:9482576}" "" "" "" "Italy" "" "0" "" "" "" "Pat4" "00229110" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229111" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229112" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat13;Pat18" "00229113" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat5;Pat5" "00229114" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229115" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam32" "00229116" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Faroe Islands" "" "0" "" "" "" "Pat13" "00229117" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam29" "00229118" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat14" "00229119" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "M" "" "Spain" "" "0" "" "" "" "Pat2" "00229120" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229121" "" "" "" "1" "" "01679" "{PMID:Pastore 1998:9482576}" "" "" "" "Italy" "" "0" "" "" "" "Pat3" "00229122" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229123" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "Lebanon" "" "0" "" "" "" "Pat14" "00229124" "" "" "" "1" "" "01679" "{PMID:Cotton 2001:11548197}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Tunisia" "" "0" "" "" "" "patient" "00229125" "" "" "" "1" "" "01679" "" "" "" "" "Colombia" "" "0" "" "" "" "" "00229126" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "F" "" "Spain" "" "0" "" "" "" "Pat11" "00229127" "" "" "" "1" "" "01679" "{PMID:Demina 1998:9657767}" "" "" "" "Portugal" "" "0" "" "" "" "Pat4" "00229128" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "Portugal" "" "0" "" "" "" "Pat17" "00229129" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat27" "00229130" "" "" "" "1" "" "01679" "" "" "" "" "United States" "" "0" "" "" "white" "" "00229131" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "Northern Europe" "" "00229132" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "Italy" "" "0" "" "" "" "Pat4" "00229133" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "VJ" "00229134" "" "" "" "1" "" "01679" "{PMID:Kanno 1997:9166866}" "" "F" "" "Japan" "" "0" "" "" "" "PatKamata" "00229135" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "F" "" "Germany" "" "0" "" "" "" "Pat6" "00229136" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Czech Republic" "" "0" "" "" "" "Pat6;Pat6" "00229137" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Pat10;Pat10" "00229138" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Pat20" "00229139" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat37" "00229140" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "F" "" "Spain" "" "0" "" "" "" "Pat6" "00229141" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "JP" "00229142" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Syria" "" "0" "" "" "Syrian" "Pat21" "00229143" "" "" "" "1" "" "01679" "" "" "" "" "China" "" "0" "" "" "" "" "00229144" "" "" "" "2" "" "01679" "{PMID:Pissard 2006:16704447}" "family, affected twin pair" "" "" "France" "" "0" "" "" "" "Fam17" "00229146" "" "" "" "1" "" "01679" "{PMID:Pissard 2007:17382129}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "white" "Pat1" "00229147" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat7;Pat7" "00229148" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat13" "00229149" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "Canada" "" "0" "" "" "white" "Pat11" "00229150" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam15" "00229151" "" "" "" "1" "" "01679" "" "" "" "" "Canada" "" "0" "" "" "French" "" "00229152" "" "" "" "2" "" "01679" "{PMID:Van Solinge 1997:9389718}" "3-generation family, affected brother/sister (different fathers), unaffected heterozygous carrier parents/relatives" "F" "" "Denmark" "" "0" "" "" "" "Fam1PatIII2" "00229153" "" "" "" "2" "" "01679" "{PMID:Pissard 2006:16704447}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "Fam7" "00229155" "" "" "" "1" "" "01679" "{PMID:Kanno 1993:8476433}" "" "" "" "Japan" "" "0" "" "" "" "patient" "00229156" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam35" "00229157" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat2" "00229158" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat3" "00229159" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat5" "00229160" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat6" "00229161" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam9" "00229162" "" "" "" "1" "" "01679" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00229164" "" "" "" "2" "" "01679" "{PMID:Kanno 1991:1896471}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "Japan" "" "0" "" "" "" "FamPatYK" "00229165" "" "" "00229164" "1" "" "01679" "{PMID:Kanno 1991:1896471}" "sister" "F" "" "Japan" "" "0" "" "" "" "FamPatFK" "00229167" "" "" "" "1" "" "01679" "{PMID:Kanno 1992:1536957}" "" "" "yes" "Japan" "" "0" "" "" "" "Fukushima" "00229169" "" "" "" "1" "" "01679" "{PMID:Kanno 1994:7949104}" "" "" "" "Japan" "" "0" "" "" "" "Sendai" "00229170" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat2" "00229171" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00229172" "" "" "" "1" "" "01679" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00229173" "" "" "" "2" "" "01679" "{PMID:Van Wijk 2009:19085939}" "2-generation family, affected sister/brother" "F" "" "Netherlands" "" "0" "" "" "" "Pat17" "00229174" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "England" "" "0" "" "" "" "Pat23" "00229175" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat2;Pat46" "00229176" "" "" "" "1" "" "01679" "{PMID:Lakomek 1994:7948315}" "" "" "" "" "" "0" "" "" "Kurdistan" "Case1-MM" "00229177" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "Brazil" "" "0" "" "" "" "Pat18" "00229178" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat11" "00229179" "" "" "" "1" "" "01679" "{PMID:Kanno 1992:1536957}" "" "" "" "Japan" "" "0" "" "" "" "Tokyo" "00229180" "" "" "" "1" "" "01679" "{PMID:Kanno 1992:1536957}" "" "" "" "Japan" "" "0" "" "" "" "Nagasaki" "00229182" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat7" "00229183" "" "" "00229039" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "relative Fam28a" "" "" "France" "" "0" "" "" "" "Fam28b" "00229184" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat11" "00229185" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat8;Pat19" "00229186" "" "" "" "1" "" "01679" "" "" "" "" "Spain" "" "0" "" "" "" "" "00229187" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "" "" "0" "" "" "Arab" "Pat19" "00229188" "" "" "" "2" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229189" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Pat11;Pat11" "00229190" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229191" "" "" "" "2" "" "01679" "{PMID:Pissard 2006:16704447}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "Fam8" "00229193" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat17;Pat36" "00229194" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229195" "" "" "" "1" "" "01679" "{PMID:Rouger 1996:8616073}" "" "" "" "France" "" "0" "" "" "" "Pat7" "00229196" "" "" "" "1" "" "01679" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00229197" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat7" "00229198" "" "" "" "1" "" "01679" "{PMID:Manco 2010:19758413}" "" "F" "" "Spain" "" "0" "" "" "" "patient" "00229199" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat18" "00229200" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "BM" "00229201" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat11;Pat20" "00229202" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat9;Pat21" "00229203" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "TS" "00229204" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam33" "00229205" "" "" "" "1" "" "01679" "{PMID:Rouger 1996:8650134}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "France" "" "0" "" "" "" "patient" "00229206" "" "" "" "2" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "" "Germany" "" "0" "" "" "" "Pat1;Pat1" "00229207" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat10;Pat48" "00229208" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "" "" "00229209" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "BT" "00229210" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "PS" "00229211" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "DS" "00229212" "" "" "" "1" "" "01679" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00229213" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam24" "00229214" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam26" "00229215" "" "" "" "1" "" "01679" "" "" "" "" "Canada" "" "0" "" "" "French" "" "00229216" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "M" "" "Spain" "" "0" "" "" "" "Pat4" "00229217" "" "" "" "2" "" "01679" "{PMID:Pissard 2006:16704447}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "Fam25" "00229219" "" "" "" "1" "" "01679" "{PMID:Park-Hah 2005:15870493}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea" "" "0" "" "" "" "patient" "00229220" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat14;Pat49" "00229222" "" "" "" "1" "" "01679" "{PMID:Kanno 1992:1536957}" "" "" "" "Japan" "" "0" "" "" "" "Maebashi" "00229223" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Guinea" "" "0" "" "" "" "Pat23;Pat53" "00229224" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229225" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat25" "00229226" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "DK" "00229227" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "AP" "00229228" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat4;Pat10" "00229229" "" "" "" "12" "" "01679" "{PMID:Sedan 2004:15491302}" "9-generation family, 12 affected (4F, 8M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Switzerland" "" "0" "" "" "Swiss" "family" "00229230" "" "" "" "1" "" "01679" "{PMID:Kanno 1994:7949104}" "" "" "" "Japan" "" "0" "" "" "" "PatTT" "00229232" "" "" "" "3" "" "01679" "{PMID:Kanno 1994:8161798}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "United States" "" "0" "" "" "Amish" "FamPatII6/JY/AY" "00229233" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229234" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "white" "Pat4" "00229235" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat10" "00229236" "" "" "" "1" "" "01679" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00229237" "" "" "" "1" "" "01679" "{PMID:Kanno 1993:8481523}" "" "F" "" "Japan" "" "0" "" "" "" "patient" "00229238" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat16" "00229239" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229240" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "M" "" "Spain" "" "0" "" "" "" "Pat10" "00229241" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229242" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "white" "" "00229243" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat19" "00229244" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Albania" "" "0" "" "" "" "Pat22" "00229245" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "white" "Pat14" "00229246" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "Hispanic" "Pat28" "00229247" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "" "" "0" "" "" "Hispanic" "Pat5" "00229248" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat16" "00229249" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "Hispanic" "" "00229250" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "" "" "00229251" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229252" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229254" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam13" "00229255" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00229256" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "F" "" "Germany" "" "0" "" "" "" "Pat9" "00229258" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat14" "00229263" "" "" "" "1" "" "01679" "" "" "" "" "India" "" "0" "" "" "" "" "00229264" "" "" "" "1" "" "01679" "" "" "" "" "India" "" "0" "" "" "" "" "00229265" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "AB" "00229266" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "UN" "00229267" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "" "" "00229268" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "" "" "00229271" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00229272" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "M" "" "Portugal" "" "0" "" "" "" "Pat1" "00229273" "" "" "" "1" "" "01679" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "gypsy" "Pat3;Pat3" "00229274" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "gypsy" "Pat6" "00229275" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "gypsy" "Pat9" "00229276" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "gypsy" "Pat29" "00229277" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "" "" "00229279" "" "" "" "3" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229280" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "England" "" "0" "" "" "" "Pat24" "00229281" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229282" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat15" "00229283" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "MM;PAt50" "00229284" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "AI;Pat40" "00229285" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat7" "00229286" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat8" "00229287" "" "" "" "1" "" "01679" "{PMID:Manco 1999:10354117}" "" "F" "" "Portugal" "" "0" "" "" "" "Pat9" "00229288" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat1;Pat42" "00229289" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat5;Pat36" "00229290" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam22" "00229291" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam37" "00229292" "" "" "" "1" "" "01679" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00229293" "" "" "" "1" "" "01679" "" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00229294" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "Kurdish" "" "00229295" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "England" "" "0" "" "" "" "Pat25" "00229296" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat26" "00229297" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat27" "00229298" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat28" "00229299" "" "" "" "1" "" "01679" "{PMID:Pastore 1998:9482576}" "" "" "" "Italy" "" "0" "" "" "" "Pat5" "00229301" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "F" "" "Spain" "" "0" "" "" "" "Pat5" "00229306" "" "" "" "1" "" "01679" "{PMID:Percy 2007:17574881}" "" "" "" "Ireland" "" "0" "" "" "" "Pat3" "00229307" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229309" "" "" "" "1" "" "01679" "{PMID:Kedar 2009:18759866}" "" "" "" "India" "" "0" "" "" "" "PP" "00229310" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Denmark" "" "0" "" "" "" "Pat34" "00229311" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat15" "00229312" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Faroe Islands" "" "0" "" "" "" "Pat28" "00229314" "" "" "" "1" "" "01679" "" "" "" "" "Italy" "" "0" "" "" "" "" "00229315" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "" "" "00229316" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat3" "00229318" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229319" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229320" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229323" "" "" "" "1" "" "01679" "" "" "" "" "Spain" "" "0" "" "" "" "" "00229325" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat1" "00229326" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat7" "00229327" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat25" "00229328" "" "" "" "1" "" "01679" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00229330" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "white" "Pat15" "00229331" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat9" "00229332" "" "" "" "1" "" "01679" "{PMID:Percy 2007:17574881}" "" "" "" "Ireland" "" "0" "" "" "" "Pat2" "00229333" "" "" "" "1" "" "01679" "{PMID:Rouger 1996:8616073}" "" "" "" "France" "" "0" "" "" "" "Pat9" "00229334" "" "" "" "1" "" "01679" "{PMID:Pastore 1998:9482576}" "" "" "" "Italy" "" "0" "" "" "" "Pat6" "00229335" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229336" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat8" "00229338" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat4;Pat4" "00229339" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat2" "00229340" "" "" "" "1" "" "01679" "{PMID:Percy 2007:17574881}" "" "" "" "Ireland" "" "0" "" "" "" "Pat4" "00229341" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229342" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "" "" "0" "" "" "Hispanic" "Pat2" "00229343" "" "" "" "1" "" "01679" "{PMID:Zarza 1999:10374175}" "" "" "" "Spain" "" "0" "" "" "" "patient" "00229344" "" "" "" "1" "" "01679" "{PMID:Demina 1998:9657767}" "" "F" "" "Brazil" "" "0" "" "" "white" "Pat6" "00229345" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "Northern Europe" "" "00229346" "" "" "" "1" "" "01679" "{PMID:Zarza 2000:10702808}" "" "M" "" "Spain" "" "0" "" "" "" "patient" "00229347" "" "" "" "1" "" "01679" "{PMID:Pastore 1998:9482576}" "" "" "" "Italy" "" "0" "" "" "" "Pat2" "00229348" "" "" "" "1" "" "01679" "{PMID:Demina 1998:9657767}" "" "" "" "Puerto Rico;Romania" "" "0" "" "" "" "Pat7" "00229349" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat3" "00229350" "" "" "" "1" "" "01679" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat4" "00229351" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat17" "00229352" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat22" "00229353" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat23" "00229354" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat26" "00229355" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "Pat30" "00229356" "" "" "" "1" "" "01679" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "DA;Pat26" "00229357" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "" "" "0" "" "" "Northern Europe" "Pat15" "00229358" "" "" "" "1" "" "01679" "{PMID:Zanella 2001:11328279}" "" "" "" "" "" "0" "" "" "Northern Europe" "Pat16" "00229359" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam10" "00229360" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam18" "00229361" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam27" "00229362" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam34" "00229363" "" "" "" "1" "" "01679" "{PMID:Pissard 2007:17382129}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "white" "Pat2" "00229364" "" "" "" "1" "" "01679" "{PMID:Pissard 2007:17382129}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "white" "Pat5" "00229365" "" "" "" "1" "" "01679" "" "" "" "" "South Africa" "" "0" "" "" "" "" "00229366" "" "" "" "1" "" "01679" "{PMID:Rouger 1996:8616073}" "" "" "" "France" "" "0" "" "" "" "Pat3" "00229367" "" "" "" "1" "" "01679" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00229368" "" "" "" "1" "" "01679" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00229369" "" "" "" "1" "" "01679" "" "" "" "" "Canada" "" "0" "" "" "French" "" "00229370" "" "" "" "1" "" "01679" "" "" "" "" "United States" "" "0" "" "" "white" "" "00229372" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "white" "Pat13" "00229374" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "white" "Pat12" "00229375" "" "" "" "1" "" "01679" "{PMID:Lakomek 1994:7948315}, {PMID:Kugler 1999:10354118}" "" "M" "" "Germany" "" "0" "" "" "" "Case3-SS" "00229376" "" "" "" "1" "" "01679" "{PMID:Lakomek 1994:7948315}" "" "F" "" "Germany" "" "0" "" "" "" "Case4-NB" "00229377" "" "" "" "2" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "2-generation family, 2 affected, brothers unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat2;Pat2" "00229378" "" "" "" "1" "" "01679" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat12;Pat12" "00229379" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat15" "00229380" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Pat17" "00229381" "" "" "" "1" "" "01679" "{PMID:Lenzner 1997:9057665}" "" "" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Pat19" "00229382" "" "" "00229152" "1" "" "01679" "{PMID:Van Solinge 1997:9389718}" "" "M" "" "Denmark" "" "0" "" "" "" "Fam1PatIII1" "00229383" "" "" "" "1" "" "01679" "{PMID:Pastore 1998:9482576}" "" "" "" "Italy" "" "0" "" "" "" "Pat1" "00229386" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat12" "00229387" "" "" "" "1" "" "01679" "" "" "" "" "Portugal" "" "0" "" "" "" "" "00229388" "" "" "" "1" "" "01679" "" "" "" "" "Ireland" "" "0" "" "" "" "" "00229389" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229390" "" "" "" "1" "" "01679" "" "" "" "" "" "" "0" "" "" "white" "" "00229391" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Denmark" "" "0" "" "" "" "Pat33" "00229392" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat9" "00229393" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat12" "00229394" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat20" "00229395" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "United States" "" "0" "" "" "African American" "Pat10" "00229396" "" "" "" "1" "" "01679" "{PMID:Pissard 2007:17382129}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "France" "" "0" "" "" "white" "Pat3" "00229400" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "white" "Pat11" "00229401" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat15" "00229406" "" "" "" "1" "" "01679" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00229407" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "M" "" "Spain" "" "0" "" "" "" "Pat8" "00229408" "" "" "" "1" "" "01679" "" "" "" "" "Brazil" "" "0" "" "" "" "" "00229409" "" "" "" "1" "" "01679" "{PMID:Manco 2009:19309805}, {PMID:Manco 2009:19309787}" "" "F" "" "Sao Tome and Principe" "" "0" "" "" "Africa-W" "patient" "00229410" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00229411" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00229412" "" "" "" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "Pat35" "00229413" "" "" "" "16" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229414" "" "" "" "5" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229415" "" "" "" "49" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229416" "" "" "" "19" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229417" "" "" "" "5" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229418" "" "" "" "2" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229419" "" "" "" "1" "" "01679" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00229420" "" "" "" "1" "" "01679" "" "" "" "" "Turkey" "" "0" "" "" "Turkish" "" "00229422" "" "" "" "1" "" "01679" "{PMID:Kugler 2000:10679942}" "" "F" "" "Germany" "" "0" "" "" "" "Pat8" "00229423" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00229424" "" "" "" "1" "" "01679" "{PMID:Baronciani 1995:7655861}" "" "" "" "United States" "" "0" "" "" "white" "Pat3" "00229425" "" "" "" "1" "" "01679" "{PMID:Beutler 2000:10828047}" "" "" "" "United States" "" "0" "" "" "white" "Pat5" "00229426" "" "" "" "3" "" "01679" "{PMID:Baronciani 1995:7655861}" "family, 3 affected sibs" "" "" "" "" "0" "" "" "Arab" "Pat7" "00229427" "" "" "" "1" "" "01679" "{PMID:Zarza 1998:9827908}" "" "M" "" "Spain" "" "0" "" "" "" "Pat1" "00229428" "" "" "" "1" "" "01679" "" "" "" "" "Spain" "" "0" "" "" "" "" "00229429" "" "" "" "1" "" "01679" "" "" "" "" "United States" "" "0" "" "" "white" "" "00229430" "" "" "" "1" "" "01679" "" "" "" "" "Japan" "" "0" "" "" "" "" "00229431" "" "" "" "1" "" "01679" "{PMID:Pissard 2006:16704447}" "" "" "" "France" "" "0" "" "" "" "Fam38" "00229432" "" "" "00229173" "1" "" "01679" "{PMID:Van Wijk 2009:19085939}" "brother" "M" "" "Netherlands" "" "0" "" "" "" "Pat18" "00229433" "" "" "" "1" "" "01679" "" "" "" "" "United States" "" "0" "" "" "white" "" "00289531" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326805" "" "" "" "1" "" "03531" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "M" "" "Tunisia" "" "0" "" "" "" "Fam3P18" "00403117" "" "" "" "3" "" "00006" "{PMID:Rehman 2022:35168679}" "3-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamPatIII6" "00403136" "" "" "" "1" "" "00006" "{PMID:Van Wijk 2009:19085939}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat38" "00403155" "" "" "" "2" "" "00006" "{PMID:Jaouani 2017:28133914}" "2-generation family, affected mother/son, unaffected heterozygous carrier relatives" "M" "yes" "Tunisia" "" "0" "" "" "" "FamIIPatII2" "00403156" "" "" "00403155" "1" "" "00006" "{PMID:Jaouani 2017:28133914}" "mother" "F" "" "Tunisia" "" "0" "" "" "" "FamIIPatI2" "00403157" "" "" "" "1" "" "00006" "{PMID:Jaouani 2017:28133914}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Tunisia" "" "0" "" "" "" "FamIIIPatII1" "00403158" "" "" "" "1" "" "00006" "{PMID:Jaouani 2017:28133914}" "" "M" "" "Tunisia" "" "0" "" "" "" "PatI1" "00403159" "" "" "" "1" "" "00006" "{PMID:Jaouani 2017:28133914}" "" "M" "" "Tunisia" "" "0" "" "" "" "PatI2" "00403160" "" "" "" "1" "" "00006" "{PMID:Jaouani 2017:28133914}" "2-generation family, 1 affected" "M" "" "Tunisia" "" "0" "" "" "" "FamIPatI1" "00403287" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat1" "00403288" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat2" "00403289" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat3" "00403290" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat4" "00403291" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat5" "00403292" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat6" "00403293" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat7" "00403294" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat8" "00403295" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat9" "00403296" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat10" "00403297" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat11" "00403298" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat12" "00403299" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat13" "00403300" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat14" "00403301" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat15" "00403302" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat16" "00403303" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat17" "00403304" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat18" "00403305" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat19" "00403306" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat20" "00403307" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat21" "00403308" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat22" "00403309" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat23" "00403310" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat24" "00403311" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat25" "00403312" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat26" "00403313" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat27" "00403314" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat28" "00403315" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat29" "00403316" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat30" "00403317" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat31" "00403318" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat32" "00403319" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat33" "00403320" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat34" "00403321" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat35" "00403322" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat36" "00403323" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat37" "00403324" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat38" "00403325" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat39" "00403326" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat40" "00403327" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat41" "00403328" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat42" "00403329" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat43" "00403330" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat44" "00403331" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat45" "00403332" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat46" "00403333" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat47" "00403334" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat48" "00403335" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat49" "00403336" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat50" "00403337" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat51" "00403338" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat52" "00403339" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat53" "00403340" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat54" "00403341" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat55" "00403342" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat56" "00403343" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat57" "00403344" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat58" "00403345" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat59" "00403346" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat60" "00403347" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat61" "00403348" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat62" "00403349" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat63" "00403350" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat64" "00403351" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat65" "00403352" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat66" "00403353" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat67" "00403354" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat68" "00403355" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat69" "00403356" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat70" "00403357" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat71" "00403358" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat72" "00403359" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat73" "00403360" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat74" "00403361" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat75" "00403362" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat76" "00403363" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat77" "00403364" "" "" "" "1" "" "00006" "{PMID:Bianchi 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"" "" "" "Pat174" "00403461" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat175" "00403462" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat176" "00403463" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat177" "00403464" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat178" "00403465" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat179" "00403466" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat180" "00403467" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat181" "00403468" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat182" "00403469" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat183" "00403470" "" "" "" "1" "" "00006" "{PMID:Bianchi 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"{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat213" "00403500" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat214" "00403501" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat215" "00403502" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat216" "00403503" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat217" "00403504" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "Roma" "Pat218" "00403505" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat219" "00403506" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat220" "00403507" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat221" "00403508" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat222" "00403509" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat223" "00403510" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat224" "00403511" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "United States" "" "0" "" "" "Amish" "Pat225" "00403512" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat226" "00403513" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat227" "00403514" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat228" "00403515" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat229" "00403516" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat230" "00403517" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat231" "00403518" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat232" "00403519" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat233" "00403520" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat234" "00403521" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat235" "00403522" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat236" "00403523" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat237" "00403524" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat238" "00403525" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat239" "00403526" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat240" "00403527" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat241" "00403528" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat242" "00403529" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat243" "00403530" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat244" "00403531" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat245" "00403532" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat246" "00403533" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat247" "00403534" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat248" "00403535" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat249" "00403536" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat250" "00403537" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat251" "00403538" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat252" "00403539" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat253" "00403540" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat254" "00403541" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat255" "00403542" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat256" "00403543" "" "" "" "1" "" "00006" "{PMID:Bianchi 2020:32043619}" "" "" "" "" "" "0" "" "" "" "Pat257" "00403544" "" "" "" "1" "" "00006" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "United States" "" "0" "" "" "white" "control" "00403585" "" "" "" "1" "" "00006" "{PMID:Yaish 2014:24969675}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "" "patient" "00403586" "" "" "" "1" "" "00006" "{PMID:De Vooght 2002:12382367}" "" "" "" "Netherlands" "" "0" "" "" "" "patient" "00403587" "" "" "" "1" "" "00006" "{PMID:Diez 2005:15870173}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "patient" "00403588" "" "" "" "1" "" "00006" "{PMID:Zarza 1998:9827908}" "" "F" "" "Spain" "" "0" "" "" "" "Pat7" "00403589" "" "" "" "1" "" "00006" "{PMID:Zarza 1998:9827908}" "" "F" "" "Spain" "" "0" "" "" "" "Pat9" "00403590" "" "" "" "2" "" "00006" "{PMID:Van Solinge 1997:9389718}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Denmark" "" "0" "" "" "" "Fam2PatII1" "00403591" "" "" "00403590" "1" "" "00006" "{PMID:Van Solinge 1997:9389718}" "sister" "F" "" "Denmark" "" "0" "" "" "" "Fam2PatII12" "00403774" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat11" "00403775" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat12" "00403776" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat38" "00403777" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat39" "00403778" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat44" "00403779" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat47" "00403780" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat54" "00403781" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat7" "00403782" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat8" "00403783" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat13" "00403784" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat27" "00403785" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat28" "00403786" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat29" "00403787" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat30" "00403788" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "F" "" "Italy" "" "0" "" "" "" "Pat33" "00403789" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat50" "00403790" "" "" "" "1" "" "00006" "{PMID:Zanella 2007:17360088}" "" "M" "" "Italy" "" "0" "" "" "" "Pat6" "00403791" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germany" "" "0" "" "" "" "Pat29" "00403817" "" "" "" "1" "" "00006" "{PMID:Rouger 1996:8616073}" "" "" "" "France" "" "0" "" "" "" "Pat8" "00403888" "" "" "" "1" "" "00006" "{PMID:Li 2014:24601847}" "" "M" "" "China" "" "0" "" "" "" "patient" "00403890" "" "" "" "4" "" "00006" "{PMID:Manco 2001:11846742}" "screen 616 random individuals" "" "" "Portugal" "" "0" "" "" "" "controls" "00403891" "" "" "" "1" "" "00006" "{PMID:Manco 2001:11846742}" "screen random individuals" "" "" "Portugal" "" "0" "" "" "" "controls" "00403893" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403894" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403895" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403896" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403901" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403902" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403903" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403904" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403905" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403907" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403908" "" "" "" "1" "" "00006" "{PMID:Lenzner 1997:9522120}" "analysis 110 controls" "" "" "Germany" "" "0" "" "" "" "controls" "00403910" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Czech Republic" "" "0" "" "" "" "Pat1" "00403912" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "2-generation family, 1 affected, unaffected heterozygous mother" "" "" "Czech Republic" "" "0" "" "" "" "Pat2" "00403913" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat3" "00403914" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Czech Republic" "" "0" "" "" "" "Pat4" "00403915" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Czech Republic" "" "0" "" "" "" "Pat8" "00403916" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Czech Republic" "" "0" "" "" "" "Pat9" "00403917" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat10" "00403918" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat11" "00403919" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat5" "00403920" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat6" "00403921" "" "" "" "1" "" "00006" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Czech Republic" "" "0" "" "" "" "Pat7" "00403928" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403929" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403930" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403931" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403932" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403933" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403934" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403935" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403936" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403937" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403938" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403939" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403940" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403941" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403942" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403943" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403944" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403945" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403946" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403947" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403948" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403949" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403950" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403951" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403952" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403953" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403954" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403955" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403956" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403957" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403958" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403959" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403960" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403961" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403962" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403963" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403964" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403965" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403966" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403967" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403968" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403969" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403970" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403971" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403972" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403973" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403974" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403975" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403976" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403977" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403978" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403979" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403980" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403981" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403982" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403983" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403984" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403985" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403986" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403987" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403988" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403989" "" "" "" "1" "" "00006" "{PMID:Berghout 2012:21833022}" "analysis 387 individuals from malaria-endemic and other regions" "" "" "" "" "0" "" "" "" "" "00403990" "" "" "" "7" "" "00006" "{PMID:Yavarian 2008:17977029}" "analysis 74 individuals reduced PK activity" "" "" "Iran" "" "0" "" "" "" "" "00419629" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20011" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 867 "{{individualid}}" "{{diseaseid}}" "00217266" "01971" "00217266" "02045" "00228901" "02045" "00228902" "00000" "00228903" "00000" "00228904" "00000" "00228905" "02045" "00228906" "02045" "00228907" "02045" "00228908" "02045" "00228909" "02045" "00228910" "02045" "00228911" "02045" "00228912" "02045" "00228913" 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"00403921" "02045" "00403928" "00000" "00403929" "00000" "00403930" "00000" "00403931" "00000" "00403932" "00000" "00403933" "00000" "00403934" "00000" "00403935" "00000" "00403936" "00000" "00403937" "00000" "00403938" "00000" "00403939" "00000" "00403940" "00000" "00403941" "00000" "00403942" "00000" "00403943" "00000" "00403944" "00000" "00403945" "00000" "00403946" "00000" "00403947" "00000" "00403948" "00000" "00403949" "00000" "00403950" "00000" "00403951" "00000" "00403952" "00000" "00403953" "00000" "00403954" "00000" "00403955" "00000" "00403956" "00000" "00403957" "00000" "00403958" "00000" "00403959" "00000" "00403960" "00000" "00403961" "00000" "00403962" "00000" "00403963" "00000" "00403964" "00000" "00403965" "00000" "00403966" "00000" "00403967" "00000" "00403968" "00000" "00403969" "00000" "00403970" "00000" "00403971" "00000" "00403972" "00000" "00403973" "00000" "00403974" "00000" "00403975" "00000" "00403976" "00000" "00403977" "00000" "00403978" "00000" "00403979" "00000" "00403980" "00000" "00403981" "00000" "00403982" "00000" "00403983" "00000" "00403984" "00000" "00403985" "00000" "00403986" "00000" "00403987" "00000" "00403988" "00000" "00403989" "00000" "00403990" "02045" "00419629" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00310, 01164, 01971, 02045, 05120, 05471 ## Count = 331 "{{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}}" "0000165717" "01971" "00217266" "00052" "Unknown" "" "pyruvate kinase deficiency" "" "" "" "" "" "" "" "" "CIPA" "pain insensitivity congenital anhidrosis" "" "0000166509" "02045" "00217266" "00006" "Familial, autosomal recessive" "" "pyruvate kinase deficiency" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "" "0000172727" "02045" "00228915" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172728" "02045" "00228922" "01679" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000172729" "02045" "00228923" "01679" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000172730" "02045" "00228924" "01679" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000172731" "02045" "00228925" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172732" "02045" "00228926" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172733" "02045" "00228927" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172734" "02045" "00228928" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172735" "02045" "00228959" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172736" "02045" "00228961" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172737" "02045" "00228964" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172738" "02045" "00228987" "01679" "Isolated (sporadic)" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172739" "02045" "00228999" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172740" "02045" "00229012" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172741" "02045" "00229022" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172742" "02045" "00229023" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172743" "02045" "00229032" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172744" "02045" "00229037" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172745" "02045" "00229067" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172746" "02045" "00229079" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172747" "02045" "00229100" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172748" "02045" "00229101" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172749" "02045" "00229102" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172750" "02045" "00229112" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172751" "02045" "00229123" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172752" "02045" "00229132" "01679" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000172755" "02045" "00229167" "01679" "Isolated (sporadic)" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172757" "02045" "00229175" "01679" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000172758" "02045" "00229185" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172759" "02045" "00229193" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172760" "02045" "00229201" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172761" "02045" "00229202" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172762" "02045" "00229207" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172763" "02045" "00229219" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172764" "02045" "00229220" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172765" "02045" "00229223" "01679" "Unknown" "" "mild/moderate" "" "" "" "" "" "" "" "" "" "" "" "0000172766" "02045" "00229228" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172767" "02045" "00229273" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172768" "02045" "00229288" "01679" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000172769" "02045" "00229289" "01679" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000172770" "02045" "00229357" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172771" "02045" "00229358" "01679" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000172772" "02045" "00228956" "01679" "Unknown" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172773" "02045" "00229034" "01679" "Unknown" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172774" "02045" "00229164" "01679" "Unknown" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172775" "02045" "00229165" "01679" "Unknown" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172776" "02045" "00229169" "01679" "Unknown" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172777" "02045" "00229230" "01679" "Unknown" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000172779" "02045" "00229232" "01679" "Unknown" "" "hemolytic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000295864" "02045" "00403117" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000295865" "02045" "00229412" "00006" "Familial, autosomal recessive" "02y" "see paper; ..." "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000295902" "01164" "00228948" "00006" "Familial, autosomal dominant" "" "see paper; ..., elevated erythrocyte ATP levels" "" "" "" "" "" "" "" "" "" "adenosine triphosphate, elevated" "" "0000295903" "00310" "00403160" "00006" "Familial, X-linked dominant" "44y" "hemolytic anemia triggered by fava beans ingestion" "" "" "" "" "" "" "" "" "" "" "" "0000296027" "02045" "00403287" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 6.1 g/dl; no gallstones; iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296028" "02045" "00403288" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.2 g/dl; no gallstones" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296029" "02045" "00403289" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 9.3 g/dl; no gallstones; iron overload" "" "0y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296030" "02045" "00403290" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones" "" "4y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296031" "02045" "00403291" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.4 g/dl; no gallstones" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296032" "02045" "00403292" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 4.3 g/dl; no gallstones" "" "1y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296033" "02045" "00403293" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.3 g/dl; gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296034" "02045" "00403294" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.7 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296035" "02045" "00403295" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296036" "02045" "00403296" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones; no iron overload" "" "5y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296037" "02045" "00403297" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.8 g/dl; no gallstones" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296038" "02045" "00403298" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.4 g/dl; gallstones" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296039" "02045" "00403299" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.6 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296040" "02045" "00403300" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 10.7 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296041" "02045" "00403301" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 12.8 g/dl; no gallstones; iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296042" "02045" "00403302" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 7.5 g/dl; no gallstones" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296043" "02045" "00403303" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8 g/dl; gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296044" "02045" "00403304" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.3 g/dl; no gallstones" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296045" "02045" "00403305" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7.1 g/dl; no gallstones" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296046" "02045" "00403306" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 10.5 g/dl; no gallstones; no iron overload" "" "1y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296047" "02045" "00403307" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 8.3 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296048" "02045" "00403308" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 7.3 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296049" "02045" "00403309" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296050" "02045" "00403310" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.1 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296051" "02045" "00403311" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.7 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296052" "02045" "00403312" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 11.2 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296053" "02045" "00403313" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.9 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296054" "02045" "00403314" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.2 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296055" "02045" "00403315" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.7 g/dl; gallstones; no iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296056" "02045" "00403316" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.2 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296057" "02045" "00403317" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.5 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296058" "02045" "00403318" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.8 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296059" "02045" "00403319" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.9 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296060" "02045" "00403320" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.1 g/dl; no gallstones; no iron overload" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296061" "02045" "00403321" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.5 g/dl; gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296062" "02045" "00403322" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.2 g/dl; no gallstones; no iron overload" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296063" "02045" "00403323" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.7 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296064" "02045" "00403324" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10 g/dl; gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296065" "02045" "00403325" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296066" "02045" "00403326" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.7 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296067" "02045" "00403327" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.7 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296068" "02045" "00403328" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.5 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296069" "02045" "00403329" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.1 g/dl; gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296070" "02045" "00403330" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.5 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296071" "02045" "00403331" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.4 g/dl; gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296072" "02045" "00403332" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.9 g/dl; gallstones; iron overload" "" "1y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296073" "02045" "00403333" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 9.4 g/dl; gallstones; iron overload" "" "2y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296074" "02045" "00403334" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.5 g/dl; gallstones" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296075" "02045" "00403335" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8 g/dl; gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296076" "02045" "00403336" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.6 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296077" "02045" "00403337" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.8 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296078" "02045" "00403338" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296079" "02045" "00403339" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.7 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296080" "02045" "00403340" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.7 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296081" "02045" "00403341" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.8 g/dl; no gallstones" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296082" "02045" "00403342" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.4 g/dl; no gallstones" "" "10y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296083" "02045" "00403343" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.6 g/dl; gallstones" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296084" "02045" "00403344" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.9 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296085" "02045" "00403345" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 9.9 g/dl; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296086" "02045" "00403346" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.3 g/dl; gallstones; no iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296087" "02045" "00403347" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.2 g/dl; gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296088" "02045" "00403348" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.6 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296089" "02045" "00403349" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.1 g/dl; no gallstones; no iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296090" "02045" "00403350" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 9.9 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296091" "02045" "00403351" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.4 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296092" "02045" "00403352" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.5 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296093" "02045" "00403353" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.6 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296094" "02045" "00403354" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.8 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296095" "02045" "00403355" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 8.9 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296096" "02045" "00403356" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.8 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296097" "02045" "00403357" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.6 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296098" "02045" "00403358" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.8 g/dl; gallstones" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296099" "02045" "00403359" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.4 g/dl; gallstones; iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296100" "02045" "00403360" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.1 g/dl; no gallstones; no iron overload" "" "30y11m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296101" "02045" "00403361" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.9 g/dl; no gallstones; no iron overload" "" "30y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296102" "02045" "00403362" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.5 g/dl; gallstones; iron overload" "" "1y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296103" "02045" "00403363" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 14.2 g/dl; gallstones; no iron overload" "" "15y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296104" "02045" "00403364" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 13.1 g/dl; no gallstones" "" "35y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296105" "02045" "00403365" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.4 g/dl; gallstones; iron overload" "" "35y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296106" "02045" "00403366" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.9 g/dl; gallstones; iron overload" "" "0y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296107" "02045" "00403367" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.5 g/dl; no gallstones; no iron overload" "" "8y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296108" "02045" "00403368" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.1 g/dl; gallstones; no iron overload" "" "15y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296109" "02045" "00403369" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.3 g/dl; no gallstones; no iron overload" "" "30y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296110" "02045" "00403370" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.6 g/dl; gallstones; iron overload" "" "12y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296111" "02045" "00403371" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.8 g/dl; gallstones; iron overload" "" "4y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296112" "02045" "00403372" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296113" "02045" "00403373" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 9.6 g/dl; gallstones; no iron overload" "" "50y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296114" "02045" "00403374" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.7 g/dl; no gallstones; no iron overload" "" "25y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296115" "02045" "00403375" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 9.9 g/dl; no gallstones; no iron overload" "" "14y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296116" "02045" "00403376" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.4 g/dl; gallstones; no iron overload" "" "12y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296117" "02045" "00403377" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.3 g/dl; no gallstones; iron overload" "" "2y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296118" "02045" "00403378" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.9 g/dl; no iron overload" "" "36y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296119" "02045" "00403379" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.5 g/dl; gallstones; no iron overload" "" "24y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296120" "02045" "00403380" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.9 g/dl; gallstones; iron overload" "" "15y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296121" "02045" "00403381" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.8 g/dl; gallstones; no iron overload" "" "19y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296122" "02045" "00403382" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.8 g/dl; gallstones; no iron overload" "" "15y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296123" "02045" "00403383" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11 g/dl; no gallstones; no iron overload" "" "29y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296124" "02045" "00403384" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.1 g/dl; no gallstones; no iron overload" "" "33y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296125" "02045" "00403385" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.2 g/dl; no gallstones; no iron overload" "" "0y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296126" "02045" "00403386" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 7 g/dl; no gallstones; iron overload" "" "1y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296127" "02045" "00403387" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.6 g/dl; no gallstones; no iron overload" "" "0y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296128" "02045" "00403388" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 8 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296129" "02045" "00403389" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.5 g/dl; no gallstones" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296130" "02045" "00403390" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.5 g/dl; gallstones; no iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296131" "02045" "00403391" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 8.3 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296132" "02045" "00403392" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 9.1 g/dl; gallstones; no iron overload" "" "1y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296133" "02045" "00403393" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.4 g/dl; no gallstones; no iron overload" "" "3y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296134" "02045" "00403394" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.2 g/dl; no gallstones" "" "1y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296135" "02045" "00403395" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 9.9 g/dl; no gallstones" "" "3y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296136" "02045" "00403396" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.2 g/dl; gallstones; iron overload" "" "13y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296137" "02045" "00403397" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7.9 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296138" "02045" "00403398" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.5 g/dl; gallstones" "" "13y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296139" "02045" "00403399" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.4 g/dl; gallstones" "" "3y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296140" "02045" "00403400" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.2 g/dl; no gallstones" "" "11y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296141" "02045" "00403401" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 9 g/dl; no gallstones" "" "1y11m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296142" "02045" "00403402" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 6.4 g/dl; gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296143" "02045" "00403403" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 7.6 g/dl; no gallstones; iron overload" "" "2y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296144" "02045" "00403404" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 10.3 g/dl; no gallstones; iron overload" "" "2y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296145" "02045" "00403405" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 7.7 g/dl; no gallstones" "" "1y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296146" "02045" "00403406" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 8.2 g/dl; no gallstones; no iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296147" "02045" "00403407" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 4.3 g/dl; no gallstones; iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296148" "02045" "00403408" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.2 g/dl; gallstones; no iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296149" "02045" "00403409" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 10.2 g/dl; gallstones; iron overload" "" "5y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296150" "02045" "00403410" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.7 g/dl; gallstones; no iron overload" "" "0y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296151" "02045" "00403411" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 9.5 g/dl; no gallstones; no iron overload" "" "1y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296152" "02045" "00403412" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7.6 g/dl; no gallstones; no iron overload" "" "1y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296153" "02045" "00403413" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.7 g/dl; no gallstones; no iron overload" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296154" "02045" "00403414" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.1 g/dl; gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296155" "02045" "00403415" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.2 g/dl; no gallstones" "" "5y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296156" "02045" "00403416" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 8.4 g/dl; no gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296157" "02045" "00403417" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 8.6 g/dl; no gallstones; iron overload" "" "3y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296158" "02045" "00403418" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 7.7 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296159" "02045" "00403419" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.9 g/dl; no gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296160" "02045" "00403420" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.6 g/dl; gallstones" "" "5y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296161" "02045" "00403421" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12 g/dl; gallstones; no iron overload" "" "60y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296162" "02045" "00403422" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7.7 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296163" "02045" "00403423" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.1 g/dl; gallstones; iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296164" "02045" "00403424" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7.4 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296165" "02045" "00403425" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.1 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296166" "02045" "00403426" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones; no iron overload" "" "5y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296167" "02045" "00403427" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.3 g/dl; no gallstones; no iron overload" "" "5y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296168" "02045" "00403428" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.8 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296169" "02045" "00403429" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.8 g/dl; gallstones; iron overload" "" "25y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296170" "02045" "00403430" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.2 g/dl; no gallstones" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296171" "02045" "00403431" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.6 g/dl; gallstones" "" "42y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296172" "02045" "00403432" "00006" "Familial, autosomal recessive" "" "not transfused" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296173" "02045" "00403433" "00006" "Familial, autosomal recessive" "" "not transfused" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296174" "02045" "00403434" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 10 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296175" "02045" "00403435" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 9.8 g/dl; gallstones" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296176" "02045" "00403436" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 8.1 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296177" "02045" "00403437" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 7.4 g/dl; gallstones; no iron overload" "" "8y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296178" "02045" "00403438" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 7.3 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296179" "02045" "00403439" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11 g/dl; no gallstones; no iron overload" "" "1y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296180" "02045" "00403440" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 8.7 g/dl; no gallstones; iron overload" "" "10y11m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296181" "02045" "00403441" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.9 g/dl; no gallstones" "" "1y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296182" "02045" "00403442" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.1 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296183" "02045" "00403443" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.5 g/dl; gallstones; iron overload" "" "9y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296184" "02045" "00403444" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.2 g/dl; no gallstones; iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296185" "02045" "00403445" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.3 g/dl; no gallstones; iron overload" "" "7y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296186" "02045" "00403446" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.8 g/dl; no gallstones" "" "0y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296187" "02045" "00403447" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 8.3 g/dl; no gallstones; iron overload" "" "0y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296188" "02045" "00403448" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.9 g/dl; no gallstones; iron overload" "" "0y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296189" "02045" "00403449" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.3 g/dl; no gallstones; no iron overload" "" "44y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296190" "02045" "00403450" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 8.2 g/dl; gallstones; iron overload" "" "20y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296191" "02045" "00403451" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 8 g/dl; no gallstones; iron overload" "" "1y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296192" "02045" "00403452" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 10.6 g/dl; gallstones; no iron overload" "" "3y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296193" "02045" "00403453" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 9.1 g/dl; no gallstones; no iron overload" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296194" "02045" "00403454" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 8 g/dl; gallstones; iron overload" "" "0y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296195" "02045" "00403455" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 10.2 g/dl; iron overload" "" "30y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296196" "02045" "00403456" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.9 g/dl; no gallstones" "" "6y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296197" "02045" "00403457" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.5 g/dl; no gallstones" "" "6y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296198" "02045" "00403458" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 8.7 g/dl; no gallstones" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296199" "02045" "00403459" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 7.6 g/dl; gallstones; no iron overload" "" "0y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296200" "02045" "00403460" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.1 g/dl; no gallstones" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296201" "02045" "00403461" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.9 g/dl; no gallstones" "" "0y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296202" "02045" "00403462" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 7.7 g/dl; gallstones; iron overload" "" "10y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296203" "02045" "00403463" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 11.5 g/dl; gallstones; iron overload" "" "47y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296204" "02045" "00403464" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 7.4 g/dl; no gallstones; iron overload" "" "33y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296205" "02045" "00403465" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 8.3 g/dl; no gallstones" "" "9y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296206" "02045" "00403466" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 10.7 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296207" "02045" "00403467" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.9 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296208" "02045" "00403468" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.5 g/dl; gallstones" "" "12y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296209" "02045" "00403469" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 12.3 g/dl; gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296210" "02045" "00403470" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296211" "02045" "00403471" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8 g/dl; gallstones" "" "1y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296212" "02045" "00403472" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 6.7 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296213" "02045" "00403473" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.7 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296214" "02045" "00403474" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 11.5 g/dl; no gallstones" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296215" "02045" "00403475" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.7 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296216" "02045" "00403476" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin . g/dl; gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296217" "02045" "00403477" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.1 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296218" "02045" "00403478" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7 g/dl; no gallstones; iron overload" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296219" "02045" "00403479" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 7.5 g/dl; no gallstones" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296220" "02045" "00403480" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 9.7 g/dl; no gallstones" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296221" "02045" "00403481" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.8 g/dl; no gallstones; iron overload" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296222" "02045" "00403482" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296223" "02045" "00403483" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 8.8 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296224" "02045" "00403484" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 10 g/dl; iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296225" "02045" "00403485" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 7.3 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296226" "02045" "00403486" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.2 g/dl; gallstones; iron overload" "" "1y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296227" "02045" "00403487" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.9 g/dl; gallstones; iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296228" "02045" "00403488" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 6.5 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296229" "02045" "00403489" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.5 g/dl; gallstones" "" "34y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296230" "02045" "00403490" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 9.6 g/dl; no gallstones; iron overload" "" "0y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296231" "02045" "00403491" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 9.7 g/dl; no gallstones; no iron overload" "" "1y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296232" "02045" "00403492" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 6.6 g/dl; no gallstones; no iron overload" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296233" "02045" "00403493" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 6.5 g/dl; no gallstones" "" "6y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296234" "02045" "00403494" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 8.6 g/dl; gallstones; no iron overload" "" "2y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296235" "02045" "00403495" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12 g/dl; gallstones; iron overload" "" "47y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296236" "02045" "00403496" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 7.2 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296237" "02045" "00403497" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 8.4 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296238" "02045" "00403498" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7.6 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296239" "02045" "00403499" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 8.6 g/dl; no gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296240" "02045" "00403500" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; gallstones; iron overload" "" "0y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296241" "02045" "00403501" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.1 g/dl; no gallstones; iron overload" "" "0y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296242" "02045" "00403502" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 8.4 g/dl; no gallstones; iron overload" "" "1y11m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296243" "02045" "00403503" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 6.8 g/dl; no gallstones; no iron overload" "" "3y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296244" "02045" "00403504" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.7 g/dl; gallstones; iron overload" "" "4y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296245" "02045" "00403505" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 13.9 g/dl; no gallstones; no iron overload" "" "27y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296246" "02045" "00403506" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9 g/dl; gallstones; iron overload" "" "1y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296247" "02045" "00403507" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.9 g/dl; gallstones; iron overload" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296248" "02045" "00403508" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.1 g/dl; gallstones" "" "33y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296249" "02045" "00403509" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.5 g/dl; gallstones; iron overload" "" "2y11m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296250" "02045" "00403510" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.3 g/dl; gallstones; iron overload" "" "32y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296251" "02045" "00403511" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 8.2 g/dl; gallstones; iron overload" "" "0y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296252" "02045" "00403512" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 8.5 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296253" "02045" "00403513" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 6.6 g/dl; gallstones; no iron overload" "" "2y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296254" "02045" "00403514" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 11.3 g/dl; gallstones" "" "0y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296255" "02045" "00403515" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11 g/dl; gallstones; no iron overload" "" "21y11m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296256" "02045" "00403516" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 6 g/dl; no gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296257" "02045" "00403517" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 10.2 g/dl; gallstones; no iron overload" "" "16y11m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296258" "02045" "00403518" "00006" "Familial, autosomal recessive" "" "splenectomy, regularly transfused; hemoglobin 9.3 g/dl; no gallstones; iron overload" "" "0y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296259" "02045" "00403519" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.1 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296260" "02045" "00403520" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 7.1 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296261" "02045" "00403521" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; gallstones" "" "6y6m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296262" "02045" "00403522" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.5 g/dl; iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296263" "02045" "00403523" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.6 g/dl; gallstones; no iron overload" "" "23y7m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296264" "02045" "00403524" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.1 g/dl; no gallstones" "" "31y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296265" "02045" "00403525" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.5 g/dl; no gallstones; no iron overload" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296266" "02045" "00403526" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 11.4 g/dl; no gallstones; no iron overload" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296267" "02045" "00403527" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.7 g/dl; gallstones; no iron overload" "" "3y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296268" "02045" "00403528" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 7.5 g/dl; gallstones; no iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296269" "02045" "00403529" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.7 g/dl; gallstones; iron overload" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296270" "02045" "00403530" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.4 g/dl; gallstones; iron overload" "" "0y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296271" "02045" "00403531" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 9 g/dl" "" "16y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296272" "02045" "00403532" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 9.9 g/dl; gallstones; no iron overload" "" "0y5m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296273" "02045" "00403533" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 12.2 g/dl; gallstones; no iron overload" "" "19y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296274" "02045" "00403534" "00006" "Familial, autosomal recessive" "" "no splenectomy, not regularly transfused; hemoglobin 9.6 g/dl; gallstones" "" "1y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296275" "02045" "00403535" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7.4 g/dl; no gallstones" "" "0y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296276" "02045" "00403536" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 10.6 g/dl; gallstones; no iron overload" "" "12y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296277" "02045" "00403537" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 10.8 g/dl; gallstones; no iron overload" "" "11y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296278" "02045" "00403538" "00006" "Familial, autosomal recessive" "" "no splenectomy, not transfused; hemoglobin 8.3 g/dl; no gallstones" "" "0y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296279" "02045" "00403539" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.5 g/dl; gallstones; iron overload" "" "0y8m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296280" "02045" "00403540" "00006" "Familial, autosomal recessive" "" "splenectomy, not transfused; hemoglobin 8.4 g/dl; gallstones" "" "16y3m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296281" "02045" "00403541" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 8.1 g/dl; no gallstones; iron overload" "" "1y2m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296282" "02045" "00403542" "00006" "Familial, autosomal recessive" "" "no splenectomy, regularly transfused; hemoglobin 7 g/dl; no gallstones; iron overload" "" "0y1m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296283" "02045" "00403543" "00006" "Familial, autosomal recessive" "" "splenectomy, not regularly transfused; hemoglobin 6.5 g/dl; no gallstones; iron overload" "" "2y10m" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296324" "02045" "00403585" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe hemolytic jaundice, low erythrocyte pyruvate kinase enzymatic activity (<2 U/g hemoglobin)" "" "" "" "" "" "" "" "" "" "" "" "0000296471" "02045" "00403774" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; exchange transfusion; >50 tansfusions; splenectomy" "" "12y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296472" "02045" "00403775" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; >30 tansfusions; no splenectomy" "" "4y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296473" "02045" "00403776" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no exchange transfusion; no splenectomy" "" "19y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296474" "02045" "00403777" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no exchange transfusion; no splenectomy" "" "32y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296475" "02045" "00403778" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no exchange transfusion; no splenectomy" "" "43y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296476" "02045" "00403779" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no exchange transfusion; 3 tansfusions; no splenectomy" "" "55y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296477" "02045" "00403780" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no exchange transfusion; no splenectomy" "" "24y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296478" "02045" "00403781" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; no exchange transfusion; >50 tansfusions; no splenectomy" "" "5y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296479" "02045" "00403782" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; exchange transfusion; >100 tansfusions; splenectomy" "" "6y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296480" "02045" "00403783" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; no exchange transfusion; 1 tansfusions; no splenectomy" "" "1y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296481" "02045" "00403784" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no exchange transfusion; splenectomy" "" "28y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296482" "02045" "00403785" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no exchange transfusion; 10 tansfusions; splenectomy" "" "39y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296483" "02045" "00403786" "00006" "Familial, autosomal recessive" "" "no neonatal jaundice; no splenectomy" "" "" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296484" "02045" "00403787" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; exchange transfusion; 1 tansfusions; splenectomy" "" "1y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296485" "02045" "00403788" "00006" "Familial, autosomal recessive" "" "15 tansfusions; no splenectomy" "" "23y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296486" "02045" "00403789" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; exchange transfusion; 3 tansfusions;no splenectomy" "" "16y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000296487" "02045" "00403790" "00006" "Familial, autosomal recessive" "" "neonatal jaundice; exchange transfusion; >30 tansfusions; no splenectomy" "" "1y" "" "" "" "" "" "" "" "pyruvate kinase deficiency" "" "0000310910" "00198" "00419629" "02300" "Familial, autosomal recessive" "1y" "" "" "" "" "" "" "" "" "" "" "metabolic abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 862 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000218335" "00217266" "1" "00052" "00006" "2011-07-27 16:54:38" "" "" "PCR;SEQ" "DNA" "" "" "0000229992" "00228901" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000229994" "00228902" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000229996" "00228903" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "PCR;ASO" "DNA" "" "" "0000229997" "00228904" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "PCR;ASO" "DNA" "" "" "0000229998" "00228905" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000229999" "00228906" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230000" "00228907" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230002" "00228908" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230003" "00228909" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230004" "00228910" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230005" "00228911" "1" "01679" "01679" "2012-12-18 15:11:13" "00006" "2022-02-19 09:51:55" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000230006" "00228912" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230007" "00228913" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230008" "00228914" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230009" "00228915" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230010" "00228916" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230011" "00228917" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230012" "00228918" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230013" "00228919" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230014" "00228920" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230015" "00228921" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230016" "00228922" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230017" "00228923" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230018" "00228924" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230019" "00228925" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230020" "00228926" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230021" "00228927" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230022" "00228928" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230023" "00228929" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230024" "00228930" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230025" "00228931" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230026" "00228932" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230027" "00228933" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230028" "00228934" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230029" "00228935" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230030" "00228936" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230031" "00228937" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230032" "00228938" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230033" "00228939" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230034" "00228940" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230035" "00228941" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230036" "00228942" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230037" "00228943" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230038" "00228944" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230039" "00228945" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230040" "00228946" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230042" "00228948" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230043" "00228949" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230044" "00228950" "1" "01679" "00006" "2011-10-18 21:25:23" "" "" "SEQ" "DNA" "" "" "0000230045" "00228951" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230046" "00228952" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230047" "00228953" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230048" "00228954" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230049" "00228955" "1" "01679" "00006" "2011-10-18 21:25:23" "" "" "SEQ" "DNA" "" "" "0000230050" "00228956" "1" "01679" "00006" "2011-10-18 21:25:23" "00006" "2022-02-18 22:19:58" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230051" "00228957" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230052" "00228958" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230053" "00228959" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230054" "00228960" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230055" "00228961" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230056" "00228962" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230057" "00228963" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230058" "00228964" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230059" "00228965" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230060" "00228966" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230061" "00228967" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230062" "00228968" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230063" "00228969" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230064" "00228970" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230065" "00228971" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230066" "00228972" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230067" "00228973" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230068" "00228974" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230069" "00228975" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230070" "00228976" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230071" "00228977" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230072" "00228978" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230073" "00228979" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230074" "00228980" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230075" "00228981" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230076" "00228982" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230077" "00228983" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230078" "00228984" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230079" "00228985" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230080" "00228986" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230081" "00228987" "1" "01679" "01679" "2011-11-20 12:53:49" "" "" "SEQ" "DNA" "" "" "0000230083" "00228989" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230084" "00228990" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230085" "00228991" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230086" "00228992" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230087" "00228993" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230088" "00228994" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230089" "00228995" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230090" "00228996" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230091" "00228997" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230092" "00228998" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230093" "00228999" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230094" "00229000" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230095" "00229001" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230097" "00229003" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230098" "00229004" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230099" "00229005" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230100" "00229006" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230101" "00229007" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230102" "00229008" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230104" "00229010" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230105" "00229011" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230106" "00229012" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230107" "00229013" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230108" "00229014" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230109" "00229015" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230110" "00229016" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230111" "00229017" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230112" "00229018" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230113" "00229019" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230114" "00229020" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230116" "00229022" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230117" "00229023" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230118" "00229024" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230119" "00229025" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230120" "00229026" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230121" "00229027" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230122" "00229028" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230123" "00229029" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230125" "00229031" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230126" "00229032" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230127" "00229033" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230128" "00229034" "1" "01679" "01679" "2011-11-20 12:53:49" "" "" "SEQ" "DNA" "" "" "0000230129" "00229035" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230130" "00229036" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230131" "00229037" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230132" "00229038" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230133" "00229039" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230134" "00229040" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230135" "00229041" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230136" "00229042" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230137" "00229043" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230138" "00229044" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230139" "00229045" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230140" "00229046" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230141" "00229047" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230143" "00229049" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230144" "00229050" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230145" "00229051" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230146" "00229052" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" 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"1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230378" "00229283" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230379" "00229284" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230380" "00229285" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230381" "00229286" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230382" "00229287" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000230383" "00229288" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230384" "00229289" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "SEQ" "DNA" "" "" "0000230385" "00229290" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230386" "00229291" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230387" "00229292" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" 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15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230456" "00229361" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230457" "00229362" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "DHPLC;SEQ" "DNA" "" "" "0000230458" "00229363" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230459" "00229364" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230460" "00229365" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230461" "00229366" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230462" "00229367" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230463" "00229368" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230464" "00229369" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230465" "00229370" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230467" "00229372" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230469" "00229374" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230470" "00229375" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230471" "00229376" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230472" "00229377" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230473" "00229378" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230474" "00229379" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230475" "00229380" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230476" "00229381" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230477" "00229382" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230478" "00229383" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230481" "00229386" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230482" "00229387" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230483" "00229388" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230484" "00229389" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230485" "00229390" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230486" "00229391" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230487" "00229392" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230488" "00229393" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230489" "00229394" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230490" "00229395" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230491" "00229396" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230495" "00229400" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230496" "00229401" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230501" "00229406" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230502" "00229407" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230503" "00229408" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230504" "00229409" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230505" "00229410" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "SEQ" "DNA" "" "" "0000230506" "00229411" "1" "01679" "01679" "2012-12-18 15:11:14" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230507" "00229412" "1" "01679" "01679" "2012-12-18 15:11:14" "00006" "2022-02-17 09:35:11" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000230508" "00229413" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "PCR" "DNA" "" "" "0000230509" "00229414" "1" "01679" "01679" "2012-12-18 15:11:13" "" "" "PCR" "DNA" "" "" 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"2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404631" "00403391" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404632" "00403392" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404633" "00403393" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404634" "00403394" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404635" "00403395" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404636" "00403396" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404637" "00403397" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404638" "00403398" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404639" "00403399" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404640" "00403400" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404641" "00403401" "1" "00006" "00006" 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"2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404653" "00403413" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404654" "00403414" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404655" "00403415" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404656" "00403416" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404657" "00403417" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404658" "00403418" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404659" "00403419" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404660" "00403420" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404661" "00403421" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404662" "00403422" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404663" "00403423" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404664" "00403424" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404665" "00403425" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404666" "00403426" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404667" "00403427" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404668" "00403428" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404669" "00403429" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404670" "00403430" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404671" "00403431" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404672" "00403432" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404673" "00403433" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404674" "00403434" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404675" "00403435" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404676" "00403436" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404677" "00403437" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404678" "00403438" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404679" "00403439" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404680" "00403440" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404681" "00403441" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404682" "00403442" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404683" "00403443" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404684" "00403444" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404685" "00403445" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404686" "00403446" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404687" "00403447" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404688" "00403448" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404689" "00403449" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404690" "00403450" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404691" "00403451" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404692" "00403452" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404693" "00403453" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404694" "00403454" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404695" "00403455" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404696" "00403456" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404697" "00403457" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404698" "00403458" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404699" "00403459" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404700" "00403460" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404701" "00403461" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404702" "00403462" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404703" "00403463" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404704" "00403464" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404705" "00403465" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404706" "00403466" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404707" "00403467" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404708" "00403468" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404709" "00403469" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404710" "00403470" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404711" "00403471" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404712" "00403472" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404713" "00403473" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404714" "00403474" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404715" "00403475" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404716" "00403476" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404717" "00403477" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404718" "00403478" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404719" "00403479" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404720" "00403480" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404721" "00403481" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404722" "00403482" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404723" "00403483" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404724" "00403484" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404725" "00403485" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404726" "00403486" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404727" "00403487" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404728" "00403488" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404729" "00403489" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404730" "00403490" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404731" "00403491" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404732" "00403492" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404733" "00403493" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404734" "00403494" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404735" "00403495" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404736" "00403496" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404737" "00403497" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404738" "00403498" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404739" "00403499" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404740" "00403500" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404741" "00403501" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404742" "00403502" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404743" "00403503" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404744" "00403504" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404745" "00403505" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404746" "00403506" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404747" "00403507" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404748" "00403508" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404749" "00403509" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404750" "00403510" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404751" "00403511" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404752" "00403512" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404753" "00403513" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404754" "00403514" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404755" "00403515" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404756" "00403516" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404757" "00403517" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404758" "00403518" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404759" "00403519" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404760" "00403520" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404761" "00403521" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404762" "00403522" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404763" "00403523" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404764" "00403524" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404765" "00403525" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404766" "00403526" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404767" "00403527" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404768" "00403528" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404769" "00403529" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404770" "00403530" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404771" "00403531" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404772" "00403532" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404773" "00403533" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404774" "00403534" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404775" "00403535" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404776" "00403536" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404777" "00403537" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404778" "00403538" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404779" "00403539" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404780" "00403540" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404781" "00403541" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404782" "00403542" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404783" "00403543" "1" "00006" "00006" "2022-02-18 12:12:02" "" "" "SEQ" "DNA" "" "" "0000404784" "00403544" "1" "00006" "00006" "2022-02-18 13:21:18" "" "" "SEQ" "DNA" "" "" "0000404825" "00403585" "1" "00006" "00006" "2022-02-19 09:02:47" "" "" "SEQ;SEQ-NG" "DNA" "" "27-gene panel" "0000404826" "00403586" "1" "00006" "00006" "2022-02-19 09:15:47" "" "" "SEQ" "DNA" "" "" "0000404827" "00403587" "1" "00006" "00006" "2022-02-19 09:27:19" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000404828" "00403588" "1" "00006" "00006" "2022-02-19 15:32:39" "" "" "SEQ" "DNA" "" "" "0000404829" "00403589" "1" "00006" "00006" "2022-02-19 15:43:39" "" "" "SEQ" "DNA" "" "" "0000404830" "00403590" "1" "00006" "00006" "2022-02-19 16:22:58" "" "" "SEQ" "DNA" "" "" "0000404831" "00403591" "1" "00006" "00006" "2022-02-19 16:24:55" "" "" "SEQ" "DNA" "" "" "0000405011" "00403774" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405012" "00403775" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405013" "00403776" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405014" "00403777" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405015" "00403778" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405016" "00403779" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405017" "00403780" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405018" "00403781" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405019" "00403782" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405020" "00403783" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405021" "00403784" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405022" "00403785" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405023" "00403786" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405024" "00403787" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405025" "00403788" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405026" "00403789" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405027" "00403790" "1" "00006" "00006" "2022-02-22 18:12:01" "" "" "SEQ" "DNA" "" "" "0000405028" "00403791" "1" "00006" "00006" "2022-02-22 19:47:42" "" "" "SEQ" "DNA" "" "" "0000405055" "00403817" "1" "00006" "00006" "2022-02-23 18:42:44" "" "" "SEQ" "DNA" "" "" "0000405126" "00403888" "1" "00006" "00006" "2022-02-24 18:11:05" "" "" "SEQ" "DNA" "" "" "0000405128" "00403890" "1" "00006" "00006" "2022-02-24 19:10:53" "" "" "SEQ;SSCA" "DNA" "" "" "0000405129" "00403891" "1" "00006" "00006" "2022-02-24 19:14:41" "" "" "SEQ;SSCA" "DNA" "" "" "0000405131" "00403893" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405132" "00403894" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405133" "00403895" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405134" "00403896" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405138" "00403901" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405139" "00403902" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405141" "00403903" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405142" "00403904" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405143" "00403905" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405144" "00403907" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405145" "00403908" "1" "00006" "00006" "2022-02-24 19:41:12" "" "" "SEQ" "DNA" "" "" "0000405148" "00403910" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405149" "00403912" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405150" "00403913" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405152" "00403914" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405153" "00403915" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405154" "00403916" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405155" "00403917" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405156" "00403918" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405157" "00403919" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405158" "00403920" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405159" "00403921" "1" "00006" "00006" "2022-02-24 21:19:47" "" "" "SEQ" "DNA" "" "" "0000405167" "00403928" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405168" "00403929" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405169" "00403930" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405170" "00403931" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405171" "00403932" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405172" "00403933" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405173" "00403934" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405174" "00403935" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405175" "00403936" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405176" "00403937" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405177" "00403938" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405178" "00403939" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405179" "00403940" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405180" "00403941" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405181" "00403942" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405182" "00403943" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405183" "00403944" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405184" "00403945" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405185" "00403946" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405186" "00403947" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405187" "00403948" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405188" "00403949" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405189" "00403950" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405190" "00403951" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405191" "00403952" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405192" "00403953" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405193" "00403954" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405194" "00403955" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405195" "00403956" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405196" "00403957" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405197" "00403958" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405198" "00403959" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405199" "00403960" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405200" "00403961" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405201" "00403962" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405202" "00403963" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405203" "00403964" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405204" "00403965" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405205" "00403966" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405206" "00403967" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405207" "00403968" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405208" "00403969" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405209" "00403970" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405210" "00403971" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405211" "00403972" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405212" "00403973" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405213" "00403974" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405214" "00403975" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405215" "00403976" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405216" "00403977" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405217" "00403978" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405218" "00403979" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405219" "00403980" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405220" "00403981" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405221" "00403982" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405222" "00403983" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405223" "00403984" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405224" "00403985" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405225" "00403986" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405226" "00403987" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405227" "00403988" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405228" "00403989" "1" "00006" "00006" "2022-02-25 10:23:20" "" "" "SEQ" "DNA" "" "" "0000405229" "00403990" "1" "00006" "00006" "2022-02-25 12:24:06" "" "" "SEQ" "DNA" "" "" "0000420933" "00419629" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 862 "{{screeningid}}" "{{geneid}}" "0000218335" "NTRK1" "0000229992" "PKLR" "0000229994" "PKLR" "0000229996" "PKLR" "0000229997" "PKLR" "0000229998" "PKLR" "0000229999" "PKLR" "0000230000" "PKLR" "0000230002" "PKLR" "0000230003" "PKLR" "0000230004" "PKLR" "0000230005" "PKLR" "0000230006" "PKLR" "0000230007" "PKLR" "0000230008" "PKLR" "0000230009" "PKLR" "0000230010" "PKLR" "0000230011" "PKLR" "0000230012" "PKLR" 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"0000230281" "PKLR" "0000230282" "PKLR" "0000230283" "PKLR" "0000230284" "PKLR" "0000230285" "PKLR" "0000230286" "PKLR" "0000230288" "PKLR" "0000230289" "PKLR" "0000230290" "PKLR" "0000230291" "PKLR" "0000230292" "PKLR" "0000230293" "PKLR" "0000230294" "PKLR" "0000230295" "PKLR" "0000230296" "PKLR" "0000230297" "PKLR" "0000230298" "PKLR" "0000230299" "PKLR" "0000230300" "PKLR" "0000230301" "PKLR" "0000230302" "PKLR" "0000230303" "PKLR" "0000230304" "PKLR" "0000230305" "PKLR" "0000230306" "PKLR" "0000230307" "PKLR" "0000230308" "PKLR" "0000230309" "PKLR" "0000230310" "PKLR" "0000230311" "PKLR" "0000230312" "PKLR" "0000230314" "PKLR" "0000230315" "PKLR" "0000230317" "PKLR" "0000230318" "PKLR" "0000230319" "PKLR" "0000230320" "PKLR" "0000230321" "PKLR" "0000230322" "PKLR" "0000230323" "PKLR" "0000230324" "PKLR" "0000230325" "PKLR" "0000230327" "PKLR" "0000230328" "PKLR" "0000230329" "PKLR" "0000230330" "PKLR" "0000230331" "PKLR" "0000230332" "PKLR" "0000230333" "PKLR" "0000230334" "PKLR" "0000230335" "PKLR" "0000230336" "PKLR" "0000230337" "PKLR" "0000230338" "PKLR" "0000230339" "PKLR" "0000230340" "PKLR" "0000230341" "PKLR" "0000230342" "PKLR" "0000230343" "PKLR" "0000230344" "PKLR" "0000230345" "PKLR" "0000230346" "PKLR" "0000230347" "PKLR" "0000230349" "PKLR" "0000230350" "PKLR" "0000230351" "PKLR" "0000230353" "PKLR" "0000230358" "PKLR" "0000230359" "PKLR" "0000230360" "PKLR" "0000230361" "PKLR" "0000230362" "PKLR" "0000230363" "PKLR" "0000230366" "PKLR" "0000230367" "PKLR" "0000230368" "PKLR" "0000230369" "PKLR" "0000230370" "PKLR" "0000230371" "PKLR" "0000230372" "PKLR" "0000230374" "PKLR" "0000230375" "PKLR" "0000230376" "PKLR" "0000230377" "PKLR" "0000230378" "PKLR" "0000230379" "PKLR" "0000230380" "PKLR" "0000230381" "PKLR" "0000230382" "PKLR" "0000230383" "PKLR" "0000230384" "PKLR" "0000230385" "PKLR" "0000230386" "PKLR" "0000230387" "PKLR" "0000230388" "PKLR" "0000230389" "PKLR" "0000230390" "PKLR" "0000230391" "PKLR" "0000230392" "PKLR" "0000230393" "PKLR" 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"0000230457" "PKLR" "0000230458" "PKLR" "0000230459" "PKLR" "0000230460" "PKLR" "0000230461" "PKLR" "0000230462" "PKLR" "0000230463" "PKLR" "0000230464" "PKLR" "0000230465" "PKLR" "0000230467" "PKLR" "0000230469" "PKLR" "0000230470" "PKLR" "0000230471" "PKLR" "0000230472" "PKLR" "0000230473" "PKLR" "0000230474" "PKLR" "0000230475" "PKLR" "0000230476" "PKLR" "0000230477" "PKLR" "0000230478" "PKLR" "0000230481" "PKLR" "0000230482" "PKLR" "0000230483" "PKLR" "0000230484" "PKLR" "0000230485" "PKLR" "0000230486" "PKLR" "0000230487" "PKLR" "0000230488" "PKLR" "0000230489" "PKLR" "0000230490" "PKLR" "0000230491" "PKLR" "0000230495" "PKLR" "0000230496" "PKLR" "0000230501" "PKLR" "0000230502" "PKLR" "0000230503" "PKLR" "0000230504" "PKLR" "0000230505" "PKLR" "0000230506" "PKLR" "0000230507" "PKLR" "0000230508" "PKLR" "0000230509" "PKLR" "0000230510" "PKLR" "0000230511" "PKLR" "0000230512" "PKLR" "0000230513" "PKLR" "0000230514" "PKLR" "0000230515" "PKLR" "0000230517" "PKLR" "0000230518" "PKLR" "0000230519" "PKLR" "0000230520" "PKLR" "0000230521" "PKLR" "0000230522" "PKLR" "0000230523" "PKLR" "0000230524" "PKLR" "0000230525" "PKLR" "0000230526" "PKLR" "0000230527" "PKLR" "0000230528" "PKLR" "0000328018" "PKLR" "0000328018" "UGT1A1" "0000404358" "PKLR" "0000404377" "PKLR" "0000404396" "PKLR" "0000404397" "PKLR" "0000404398" "PKLR" "0000404399" "PKLR" "0000404400" "PKLR" "0000404401" "G6PD" "0000404401" "PKLR" "0000404527" "PKLR" "0000404528" "PKLR" "0000404529" "PKLR" "0000404530" "PKLR" "0000404531" "PKLR" "0000404532" "PKLR" "0000404533" "PKLR" "0000404534" "PKLR" "0000404535" "PKLR" "0000404536" "PKLR" "0000404537" "PKLR" "0000404538" "PKLR" "0000404539" "PKLR" "0000404540" "PKLR" "0000404541" "PKLR" "0000404542" "PKLR" "0000404543" "PKLR" "0000404544" "PKLR" "0000404545" "PKLR" "0000404546" "PKLR" "0000404547" "PKLR" "0000404548" "PKLR" "0000404549" "PKLR" "0000404550" "PKLR" "0000404551" "PKLR" "0000404552" "PKLR" "0000404553" "PKLR" "0000404554" "PKLR" "0000404555" "PKLR" "0000404556" "PKLR" "0000404557" "PKLR" "0000404558" "PKLR" "0000404559" "PKLR" "0000404560" "PKLR" "0000404561" "PKLR" "0000404562" "PKLR" "0000404563" "PKLR" "0000404564" "PKLR" "0000404565" "PKLR" "0000404566" "PKLR" "0000404567" "PKLR" "0000404568" "PKLR" "0000404569" "PKLR" "0000404570" "PKLR" "0000404571" "PKLR" "0000404572" "PKLR" "0000404573" "PKLR" "0000404574" "PKLR" "0000404575" "PKLR" "0000404576" "PKLR" "0000404577" "PKLR" "0000404578" "PKLR" "0000404579" "PKLR" "0000404580" "PKLR" "0000404581" "PKLR" "0000404582" "PKLR" "0000404583" "PKLR" "0000404584" "PKLR" "0000404585" "PKLR" "0000404586" "PKLR" "0000404587" "PKLR" "0000404588" "PKLR" "0000404589" "PKLR" "0000404590" "PKLR" "0000404591" "PKLR" "0000404592" "PKLR" "0000404593" "PKLR" "0000404594" "PKLR" "0000404595" "PKLR" "0000404596" "PKLR" "0000404597" "PKLR" "0000404598" "PKLR" "0000404599" "PKLR" "0000404600" "PKLR" "0000404601" "PKLR" "0000404602" "PKLR" "0000404603" "PKLR" "0000404604" "PKLR" "0000404605" "PKLR" "0000404606" "PKLR" "0000404607" "PKLR" "0000404608" "PKLR" "0000404609" "PKLR" "0000404610" "PKLR" "0000404611" "PKLR" "0000404612" "PKLR" "0000404613" "PKLR" "0000404614" "PKLR" "0000404615" "PKLR" "0000404616" "PKLR" "0000404617" "PKLR" "0000404618" "PKLR" "0000404619" "PKLR" "0000404620" "PKLR" "0000404621" "PKLR" "0000404622" "PKLR" "0000404623" "PKLR" "0000404624" "PKLR" "0000404625" "PKLR" "0000404626" "PKLR" "0000404627" "PKLR" "0000404628" "PKLR" "0000404629" "PKLR" "0000404630" "PKLR" "0000404631" "PKLR" "0000404632" "PKLR" "0000404633" "PKLR" "0000404634" "PKLR" "0000404635" "PKLR" "0000404636" "PKLR" "0000404637" "PKLR" "0000404638" "PKLR" "0000404639" "PKLR" "0000404640" "PKLR" "0000404641" "PKLR" "0000404642" "PKLR" "0000404643" "PKLR" "0000404644" "PKLR" "0000404645" "PKLR" "0000404646" "PKLR" "0000404647" "PKLR" "0000404648" "PKLR" "0000404649" "PKLR" "0000404650" "PKLR" "0000404651" "PKLR" "0000404652" "PKLR" "0000404653" "PKLR" "0000404654" "PKLR" "0000404655" "PKLR" "0000404656" "PKLR" "0000404657" "PKLR" "0000404658" "PKLR" "0000404659" "PKLR" "0000404660" "PKLR" "0000404661" "PKLR" "0000404662" "PKLR" "0000404663" "PKLR" "0000404664" "PKLR" "0000404665" "PKLR" "0000404666" "PKLR" "0000404667" "PKLR" "0000404668" "PKLR" "0000404669" "PKLR" "0000404670" "PKLR" "0000404671" "PKLR" "0000404672" "PKLR" "0000404673" "PKLR" "0000404674" "PKLR" "0000404675" "PKLR" "0000404676" "PKLR" "0000404677" "PKLR" "0000404678" "PKLR" "0000404679" "PKLR" "0000404680" "PKLR" "0000404681" "PKLR" "0000404682" "PKLR" "0000404683" "PKLR" "0000404684" "PKLR" "0000404685" "PKLR" "0000404686" "PKLR" "0000404687" "PKLR" "0000404688" "PKLR" "0000404689" "PKLR" "0000404690" "PKLR" "0000404691" "PKLR" "0000404692" "PKLR" "0000404693" "PKLR" "0000404694" "PKLR" "0000404695" "PKLR" "0000404696" "PKLR" "0000404697" "PKLR" "0000404698" "PKLR" "0000404699" "PKLR" "0000404700" "PKLR" "0000404701" "PKLR" "0000404702" "PKLR" "0000404703" "PKLR" "0000404704" "PKLR" "0000404705" "PKLR" "0000404706" "PKLR" "0000404707" "PKLR" "0000404708" "PKLR" "0000404709" "PKLR" "0000404710" "PKLR" "0000404711" "PKLR" "0000404712" "PKLR" "0000404713" "PKLR" "0000404714" "PKLR" "0000404715" "PKLR" "0000404716" "PKLR" "0000404717" "PKLR" "0000404718" "PKLR" "0000404719" "PKLR" "0000404720" "PKLR" "0000404721" "PKLR" "0000404722" "PKLR" "0000404723" "PKLR" "0000404724" "PKLR" "0000404725" "PKLR" "0000404726" "PKLR" "0000404727" "PKLR" "0000404728" "PKLR" "0000404729" "PKLR" "0000404730" "PKLR" "0000404731" "PKLR" "0000404732" "PKLR" "0000404733" "PKLR" "0000404734" "PKLR" "0000404735" "PKLR" "0000404736" "PKLR" "0000404737" "PKLR" "0000404738" "PKLR" "0000404739" "PKLR" "0000404740" "PKLR" "0000404741" "PKLR" "0000404742" "PKLR" "0000404743" "PKLR" "0000404744" "PKLR" "0000404745" "PKLR" "0000404746" "PKLR" "0000404747" "PKLR" "0000404748" "PKLR" "0000404749" "PKLR" "0000404750" "PKLR" "0000404751" "PKLR" "0000404752" "PKLR" "0000404753" "PKLR" "0000404754" "PKLR" "0000404755" "PKLR" "0000404756" "PKLR" "0000404757" "PKLR" "0000404758" "PKLR" "0000404759" "PKLR" "0000404760" "PKLR" "0000404761" "PKLR" "0000404762" "PKLR" "0000404763" "PKLR" "0000404764" "PKLR" "0000404765" "PKLR" "0000404766" "PKLR" "0000404767" "PKLR" "0000404768" "PKLR" "0000404769" "PKLR" "0000404770" "PKLR" "0000404771" "PKLR" "0000404772" "PKLR" "0000404773" "PKLR" "0000404774" "PKLR" "0000404775" "PKLR" "0000404776" "PKLR" "0000404777" "PKLR" "0000404778" "PKLR" "0000404779" "PKLR" "0000404780" "PKLR" "0000404781" "PKLR" "0000404782" "PKLR" "0000404783" "PKLR" "0000404784" "PKLR" "0000404825" "PKLR" "0000404826" "PKLR" "0000404827" "PKLR" "0000404828" "PKLR" "0000404829" "PKLR" "0000404830" "PKLR" "0000404831" "PKLR" "0000405011" "PKLR" "0000405012" "PKLR" "0000405013" "PKLR" "0000405014" "PKLR" "0000405015" "PKLR" "0000405016" "PKLR" "0000405017" "PKLR" "0000405018" "PKLR" "0000405019" "PKLR" "0000405020" "PKLR" "0000405021" "PKLR" "0000405022" "PKLR" "0000405023" "PKLR" "0000405024" "PKLR" "0000405025" "PKLR" "0000405026" "PKLR" "0000405027" "PKLR" "0000405028" "PKLR" "0000405055" "PKLR" "0000405126" "PKLR" "0000405128" "PKLR" "0000405129" "PKLR" "0000405131" "PKLR" "0000405132" "PKLR" "0000405133" "PKLR" "0000405134" "PKLR" "0000405138" "PKLR" "0000405139" "PKLR" "0000405141" "PKLR" "0000405142" "PKLR" "0000405143" "PKLR" "0000405144" "PKLR" "0000405145" "PKLR" "0000405148" "PKLR" "0000405149" "PKLR" "0000405150" "PKLR" "0000405152" "PKLR" "0000405153" "PKLR" "0000405154" "PKLR" "0000405155" "PKLR" "0000405156" "PKLR" "0000405157" "PKLR" "0000405158" "PKLR" "0000405159" "PKLR" "0000405167" "PKLR" "0000405168" "PKLR" "0000405169" "PKLR" "0000405170" "PKLR" "0000405171" "PKLR" "0000405172" "PKLR" "0000405173" "PKLR" "0000405174" "PKLR" "0000405175" "PKLR" "0000405176" "PKLR" "0000405177" "PKLR" "0000405178" "PKLR" "0000405179" "PKLR" "0000405180" "PKLR" "0000405181" "PKLR" "0000405182" "PKLR" "0000405183" "PKLR" "0000405184" "PKLR" "0000405185" "PKLR" "0000405186" "PKLR" "0000405187" "PKLR" "0000405188" "PKLR" "0000405189" "PKLR" "0000405190" "PKLR" "0000405191" "PKLR" "0000405192" "PKLR" "0000405193" "PKLR" "0000405194" "PKLR" "0000405195" "PKLR" "0000405196" "PKLR" "0000405197" "PKLR" "0000405198" "PKLR" "0000405199" "PKLR" "0000405200" "PKLR" "0000405201" "PKLR" "0000405202" "PKLR" "0000405203" "PKLR" "0000405204" "PKLR" "0000405205" "PKLR" "0000405206" "PKLR" "0000405207" "PKLR" "0000405208" "PKLR" "0000405209" "PKLR" "0000405210" "PKLR" "0000405211" "PKLR" "0000405212" "PKLR" "0000405213" "PKLR" "0000405214" "PKLR" "0000405215" "PKLR" "0000405216" "PKLR" "0000405217" "PKLR" "0000405218" "PKLR" "0000405219" "PKLR" "0000405220" "PKLR" "0000405221" "PKLR" "0000405222" "PKLR" "0000405223" "PKLR" "0000405224" "PKLR" "0000405225" "PKLR" "0000405226" "PKLR" "0000405227" "PKLR" "0000405228" "PKLR" "0000405229" "PKLR" ## 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 = 1385 "{{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}}" "0000248226" "0" "10" "1" "155260350" "155260350" "subst" "0.333952" "02325" "PKLR_000246" "g.155260350A>G" "" "" "" "PKLR(NM_000298.6):c.*13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155290559A>G" "" "benign" "" "0000250929" "0" "10" "1" "155260350" "155260350" "subst" "0.333952" "02326" "PKLR_000246" "g.155260350A>G" "" "" "" "PKLR(NM_000298.6):c.*13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155290559A>G" "" "benign" "" "0000252548" "0" "90" "1" "155269954" "155269954" "subst" "0" "02326" "PKLR_000295" "g.155269954A>G" "" "" "" "PKLR(NM_000298.6):c.218T>C (p.L73P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155300163A>G" "" "pathogenic" "" "0000252569" "0" "90" "1" "155265347" "155265347" "subst" "0" "02326" "PKLR_000290" "g.155265347A>G" "" "" "" "PKLR(NM_000298.6):c.388T>C (p.S130P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295556A>G" "" "pathogenic" "" "0000252582" "0" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "02326" "PKLR_000289" "g.155265334A>T" "" "" "" "PKLR(NM_000298.6):c.401T>A (p.V134D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic" "" "0000252609" "0" "90" "1" "155264905" "155264905" "subst" "0" "02326" "PKLR_000283" "g.155264905A>C" "" "" "" "PKLR(NM_000298.6):c.694+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295114A>C" "" "pathogenic" "" "0000252695" "0" "50" "1" "155261684" "155261684" "subst" "4.062E-6" "02326" "PKLR_000255" "g.155261684A>G" "" "" "" "PKLR(NM_000298.6):c.1481T>C (p.I494T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291893A>G" "" "VUS" "" "0000252723" "0" "50" "1" "155263377" "155263377" "subst" "0" "02326" "PKLR_000270" "g.155263377A>G" "" "" "" "PKLR(NM_000298.6):c.1121T>C (p.L374P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293586A>G" "" "VUS" "" "0000297007" "0" "10" "1" "155260383" "155260383" "subst" "0.335811" "02325" "PKLR_000247" "g.155260383G>T" "" "" "" "PKLR(NM_000298.6):c.1705C>A (p.R569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155290592G>T" "" "benign" "" "0000298880" "0" "90" "1" "155264999" "155264999" "subst" "4.06504E-6" "02329" "PKLR_000285" "g.155264999C>T" "" "" "" "PKLR(NM_000298.6):c.602G>A (p.W201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295208C>T" "" "pathogenic" "" "0000300860" "0" "30" "1" "155271303" "155271303" "subst" "0" "02326" "PKLR_000298" "g.155271303C>A" "" "" "" "PKLR(NM_000298.6):c.-117G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155301512C>A" "" "likely benign" "" "0000300861" "0" "10" "1" "155271334" "155271334" "subst" "0" "02326" "PKLR_000299" "g.155271334G>A" "" "" "" "PKLR(NM_000298.6):c.-148C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155301543G>A" "" "benign" "" "0000300862" "0" "10" "1" "155260096" "155260096" "subst" "0" "02326" "PKLR_000245" "g.155260096G>A" "" "" "" "PKLR(NM_000298.6):c.*267C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155290305G>A" "" "benign" "" "0000300863" "0" "90" "1" "155264127" "155264127" "subst" "4.06362E-6" "02326" "PKLR_000273" "g.155264127C>G" "" "" "" "PKLR(NM_000298.6):c.1015G>C (p.D339H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294336C>G" "" "pathogenic" "" "0000300864" "0" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "02326" "PKLR_000272" "g.155264051C>T" "" "" "" "PKLR(NM_000298.6):c.1091G>A (p.G364D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic" "" "0000300865" "0" "70" "1" "155264043" "155264043" "subst" "4.06131E-6" "02326" "PKLR_000271" "g.155264043C>A" "" "" "" "PKLR(NM_000298.6):c.1099G>T (p.V367F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294252C>A" "" "likely pathogenic" "" "0000300866" "0" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "02326" "PKLR_000269" "g.155263347G>A" "" "" "" "PKLR(NM_000298.6):c.1151C>T (p.T384M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic" "" "0000300867" "0" "90" "1" "155263342" "155263342" "subst" "0" "02326" "PKLR_000268" "g.155263342C>T" "" "" "" "PKLR(NM_000298.6):c.1156G>A (p.A386T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293551C>T" "" "pathogenic" "" "0000300868" "0" "90" "1" "155263330" "155263330" "subst" "0" "02326" "PKLR_000267" "g.155263330C>T" "" "" "" "PKLR(NM_000298.6):c.1168G>A (p.D390N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293539C>T" "" "pathogenic" "" "0000300869" "0" "70" "1" "155263324" "155263324" "subst" "4.06141E-6" "02326" "PKLR_000266" "g.155263324C>T" "" "" "" "PKLR(NM_000298.6):c.1174G>A (p.A392T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293533C>T" "" "likely pathogenic" "" "0000300870" "0" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "02326" "PKLR_000265" "g.155263320T>C" "" "" "" "PKLR(NM_000298.6):c.1178A>G (p.N393S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic" "" "0000300871" "0" "50" "1" "155270053" "155270053" "subst" "0" "02326" "PKLR_000297" "g.155270053C>T" "" "" "" "PKLR(NM_000298.6):c.119G>A (p.R40Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155300262C>T" "" "VUS" "" "0000300872" "0" "50" "1" "155263276" "155263276" "subst" "0" "02326" "PKLR_000264" "g.155263276T>G" "" "" "" "PKLR(NM_000298.6):c.1222A>C (p.T408P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293485T>G" "" "VUS" "" "0000300873" "0" "90" "1" "155263275" "155263275" "subst" "0" "02326" "PKLR_000263" "g.155263275G>A" "" "" "" "PKLR(NM_000298.6):c.1223C>T (p.T408I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293484G>A" "" "pathogenic" "" "0000300874" "0" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "02326" "PKLR_000262" "g.155263229C>T" "" "" "" "PKLR(NM_000298.6):c.1269G>A (p.A423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic" "" "0000300875" "0" "50" "1" "155263106" "155263106" "subst" "0" "02326" "PKLR_000261" "g.155263106T>C" "" "" "" "PKLR(NM_000298.6):c.1298A>G (p.Y433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293315T>C" "" "VUS" "" "0000300876" "0" "90" "1" "155263086" "155263086" "subst" "8.1215E-6" "02326" "PKLR_000260" "g.155263086C>A" "" "" "" "PKLR(NM_000298.6):c.1318G>T (p.E440*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293295C>A" "" "pathogenic" "" "0000300877" "0" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "02326" "PKLR_000259" "g.155262968C>T" "" "" "" "PKLR(NM_000298.6):c.1436G>A (p.R479H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic" "" "0000300878" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "02326" "PKLR_000258" "g.155261709G>A" "" "" "" "PKLR(NM_000298.6):c.1456C>T (p.R486W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000300879" "0" "90" "1" "155261703" "155261703" "subst" "0" "02326" "PKLR_000257" "g.155261703G>A" "" "" "" "PKLR(NM_000298.6):c.1462C>T (p.R488*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291912G>A" "" "pathogenic" "" "0000300880" "0" "50" "1" "155261702" "155261702" "subst" "1.21944E-5" "02326" "PKLR_000256" "g.155261702C>T" "" "" "" "PKLR(NM_000298.6):c.1463G>A (p.R488Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291911C>T" "" "VUS" "" "0000300881" "0" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "02326" "PKLR_000254" "g.155261681G>A" "" "" "" "PKLR(NM_000298.6):c.1484C>T (p.A495V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic" "" "0000300882" "0" "90" "1" "155261673" "155261673" "subst" "8.12354E-6" "02326" "PKLR_000253" "g.155261673G>A" "" "" "" "PKLR(NM_000298.6):c.1492C>T (p.R498C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291882G>A" "" "pathogenic" "" "0000300883" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "02326" "PKLR_000252" "g.155261636C>T" "" "" "" "PKLR(NM_000298.6):c.1529G>A (p.R510Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000300884" "0" "90" "1" "155261633" "155261633" "subst" "0" "02326" "PKLR_000251" "g.155261633C>T" "" "" "" "PKLR(NM_000298.6):c.1532G>A (p.G511E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291842C>T" "" "pathogenic" "" "0000300885" "0" "90" "1" "155261553" "155261553" "subst" "0" "02326" "PKLR_000250" "g.155261553C>A" "" "" "" "PKLR(NM_000298.6):c.1612G>T (p.E538*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155291762C>A" "" "pathogenic" "" "0000300886" "0" "90" "1" "155260413" "155260413" "subst" "1.635E-5" "02326" "PKLR_000249" "g.155260413G>A" "" "" "" "PKLR(NM_000298.6):c.1675C>T (p.R559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155290622G>A" "" "pathogenic" "" "0000300887" "0" "50" "1" "155260412" "155260412" "subst" "0" "02326" "PKLR_000248" "g.155260412C>G" "" "" "" "PKLR(NM_000298.6):c.1676G>C (p.R559P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155290621C>G" "" "VUS" "" "0000300888" "0" "10" "1" "155260383" "155260383" "subst" "0.335811" "02326" "PKLR_000247" "g.155260383G>T" "" "" "" "PKLR(NM_000298.6):c.1705C>A (p.R569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155290592G>T" "" "benign" "" "0000300889" "0" "30" "1" "155269991" "155269991" "subst" "0.00323162" "02326" "PKLR_000296" "g.155269991G>A" "" "" "" "PKLR(NM_000298.6):c.181C>T (p.L61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155300200G>A" "" "likely benign" "" "0000300890" "0" "90" "1" "155265549" "155265549" "subst" "0" "02326" "PKLR_000294" "g.155265549T>G" "" "" "" "PKLR(NM_000298.6):c.284-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295758T>G" "" "pathogenic" "" "0000300891" "0" "70" "1" "155265311" "155265311" "subst" "0" "02326" "PKLR_000288" "g.155265311C>T" "" "" "" "PKLR(NM_181871.4):c.331G>A (p.A111T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295520C>T" "" "likely pathogenic" "" "0000300893" "0" "90" "1" "155265472" "155265472" "subst" "0" "02326" "PKLR_000292" "g.155265472G>A" "" "" "" "PKLR(NM_000298.6):c.359C>T (p.S120F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295681G>A" "" "pathogenic" "" "0000300894" "0" "90" "1" "155265361" "155265361" "subst" "0" "02326" "PKLR_000291" "g.155265361T>G" "" "" "" "PKLR(NM_000298.6):c.376-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295570T>G" "" "pathogenic" "" "0000300896" "0" "90" "1" "155265095" "155265095" "subst" "0" "02326" "PKLR_000286" "g.155265095T>A" "" "" "" "PKLR(NM_000298.6):c.508-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295304T>A" "" "pathogenic" "" "0000300897" "0" "10" "1" "155264974" "155264974" "subst" "2.43865E-5" "02326" "PKLR_000284" "g.155264974C>G" "" "" "" "PKLR(NM_000298.6):c.627G>C (p.R209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155295183C>G" "" "benign" "" "0000300898" "0" "30" "1" "155264448" "155264448" "subst" "5.71209E-5" "02326" "PKLR_000282" "g.155264448G>A" "" "" "" "PKLR(NM_000298.6):c.790C>T (p.L264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294657G>A" "" "likely benign" "" "0000300899" "0" "70" "1" "155264434" "155264434" "subst" "0" "02326" "PKLR_000281" "g.155264434G>T" "" "" "" "PKLR(NM_000298.6):c.804C>A (p.D268E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294643G>T" "" "likely pathogenic" "" "0000300900" "0" "10" "1" "155264424" "155264424" "subst" "0.000313722" "02326" "PKLR_000280" "g.155264424G>C" "" "" "" "PKLR(NM_000298.6):c.814C>G (p.L272V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294633G>C" "" "benign" "" "0000300901" "0" "30" "1" "155264409" "155264409" "subst" "0.000671731" "02326" "PKLR_000279" "g.155264409C>T" "" "" "" "PKLR(NM_000298.6):c.829G>A (p.E277K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294618C>T" "" "likely benign" "" "0000300902" "0" "70" "1" "155264283" "155264283" "subst" "0" "02326" "PKLR_000278" "g.155264283C>T" "" "" "" "PKLR(NM_000298.6):c.955G>A (p.G319S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294492C>T" "" "likely pathogenic" "" "0000300903" "0" "10" "1" "155264280" "155264280" "subst" "2.43853E-5" "02326" "PKLR_000277" "g.155264280C>G" "" "" "" "PKLR(NM_000298.6):c.958G>C (p.V320L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294489C>G" "" "benign" "" "0000300904" "0" "90" "1" "155264177" "155264177" "subst" "0" "02326" "PKLR_000276" "g.155264177C>A" "" "" "" "PKLR(NM_000298.6):c.966-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294386C>A" "" "pathogenic" "" "0000300905" "0" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "02326" "PKLR_000275" "g.155264149G>T" "" "" "" "PKLR(NM_000298.6):c.993C>A (p.D331E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic" "" "0000300906" "0" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "02326" "PKLR_000274" "g.155264148C>T" "" "" "" "PKLR(NM_000298.6):c.994G>A (p.G332S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic" "" "0000453967" "3" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "00006" "PKLR_000300" "g.155263026C>T" "" "{PMID:Indo 2001:11668614}" "" "" "" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic" "" "0000471342" "21" "30" "1" "155271510" "155271510" "subst" "0" "01679" "PKLR_000075" "g.155271510A>T" "" "{PMID:Van Wijk 2003:12393511}" "BstXI" "-324T>A" "not in 100 control chromosomes; allele not detecably expressed" "Germline" "" "" "0" "" "" "g.155301719A>T" "" "likely benign" "" "0000471344" "2" "50" "1" "155271434" "155271434" "del" "0" "01679" "PKLR_000074" "g.155271434del" "" "{PMID:Van Wijk 2003:12393511}" "" "-248delT" "since the individuals are not affected, variant suggested not to be deleterious" "Germline" "" "" "0" "" "" "g.155301643del" "" "likely benign" "" "0000471345" "21" "50" "1" "155271434" "155271434" "del" "0" "01679" "PKLR_000074" "g.155271434del" "" "{PMID:Van Wijk 2003:12393511}" "" "-248delT" "allele not detectably expressed" "Germline" "" "" "0" "" "" "g.155301643del" "" "benign (!)" "" "0000471347" "1" "30" "1" "155271434" "155271434" "del" "0" "01679" "PKLR_000074" "g.155271434del" "34/241 controls" "{PMID:Van Wijk 2003:12393511}" "" "-248delT" "34/241 heterozygous control" "Germline" "" "" "0" "" "" "g.155301643del" "" "likely benign" "" "0000471348" "3" "30" "1" "155271434" "155271434" "del" "0" "01679" "PKLR_000074" "g.155271434del" "1/241 controls" "{PMID:Van Wijk 2003:12393511}" "" "-248delT" "" "Germline" "" "" "0" "" "" "g.155301643del" "" "likely benign" "" "0000471350" "2" "50" "1" "155271434" "155271434" "del" "0" "01679" "PKLR_000074" "g.155271434del" "" "{PMID:Pissard 2006:16704447}" "" "-248delT" "Van Wijk wonders whther variant is described correctly" "Germline" "" "" "0" "" "" "g.155301643del" "" "VUS" "" "0000471351" "0" "90" "1" "155271342" "155271342" "subst" "0" "01679" "PKLR_000244" "g.155271342C>G" "" "Manco and Ribeiro, unpublished" "" "" "erythroid-specific promoter" "Germline" "" "" "0" "" "" "g.155301551C>G" "" "pathogenic" "" "0000471352" "1" "50" "1" "155271295" "155271295" "subst" "0" "01679" "PKLR_000132" "g.155271295G>A" "" "{PMID:Pissard 2006:16704447}, {PMID:Van Wijk 2007:17222205}" "" "-109C>T" "Van Wijk wonders whether variant -148C>T is meant; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000471353" "21" "90" "1" "155271269" "155271269" "subst" "0" "01679" "PKLR_000076" "g.155271269C>G" "" "{PMID:Van Wijk 2003:12393511}" "BsmAI" "-83G>C" "not in 100 control chromosomes; allele not detecably expressed" "Germline" "" "" "0" "" "" "g.155301478C>G" "" "pathogenic (recessive)" "" "0000471355" "0" "90" "1" "155271268" "155271268" "subst" "0" "01679" "PKLR_000243" "g.155271268C>G" "" "Kugler 2002" "" "" "PK type Hamburg\r\nVariant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000471356" "1" "90" "1" "155271259" "155271259" "subst" "0" "01679" "PKLR_000201" "g.155271259C>G" "" "{PMID:Marcello 2008:18708292}" "" "-73G>C" "variant affects erythroid-specific promoter" "Germline" "" "" "0" "" "" "g.155301468C>G" "" "pathogenic (recessive)" "" "0000471357" "2" "90" "1" "155271258" "155271258" "subst" "0" "01679" "PKLR_000062" "g.155271258T>C" "" "{PMID:Manco 2000:11054094}" "Bsu36I+" "-72A>G" "erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.155301467T>C" "" "pathogenic" "" "0000471358" "2" "90" "1" "155271258" "155271258" "subst" "0" "01679" "PKLR_000062" "g.155271258T>C" "" "{PMID:Manco 2000:11054094}" "Bsu36I+" "-72A>G" "erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.155301467T>C" "" "pathogenic (recessive)" "" "0000471359" "3" "90" "1" "155271258" "155271258" "subst" "0" "01679" "PKLR_000062" "g.155271258T>C" "" "{PMID:Manco 2000:11054094}" "Bsu36I+" "-72A>G" "erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.155301467T>C" "" "pathogenic (recessive)" "" "0000471361" "3" "90" "1" "155271258" "155271258" "subst" "0" "01679" "PKLR_000062" "g.155271258T>C" "" "{PMID:Manco 2000:11054094}" "Bsu36I+" "-72A>G" "erythroid-specific promoter varaint, reduced mRNA levels (0.2); not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.155301467T>C" "" "pathogenic (recessive)" "" "0000471363" "21" "90" "1" "155271257" "155271257" "subst" "0" "01679" "PKLR_000135" "g.155271257T>C" "" "{PMID:Coutinho et al. 2009:19036089}" "" "-72A>G" "Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000471396" "1" "90" "1" "155271077" "155271077" "subst" "4.06072E-5" "01679" "PKLR_000130" "g.155271077C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155301286C>T" "" "pathogenic" "" "0000471397" "1" "90" "1" "155271077" "155271077" "subst" "4.06072E-5" "01679" "PKLR_000130" "g.155271077C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155301286C>T" "" "pathogenic" "" "0000471398" "1" "90" "1" "155271077" "155271077" "subst" "0" "01679" "PKLR_000128" "g.155271077C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155301286C>A" "" "pathogenic" "" "0000471399" "1" "90" "1" "155270072" "155270072" "subst" "0" "01679" "PKLR_000165" "g.155270072C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "IVSA-1G>A" "" "Germline" "" "" "0" "" "" "g.155300281C>T" "" "pathogenic (recessive)" "" "0000471400" "1" "90" "1" "155270065" "155270065" "subst" "5.04755E-6" "01679" "PKLR_000001" "g.155270065G>C" "" "{PMID:Fermo 2005:15953013}" "" "" "no variant 2nd chromosome; HB, SH, UC" "Germline" "" "" "0" "" "" "g.155300274G>C" "" "pathogenic (recessive)" "" "0000471402" "1" "90" "1" "155270062" "155270062" "subst" "0" "01679" "PKLR_000176" "g.155270062C>T" "" "{PMID:Beutler 1997:9090535}" "" "" "variant suggested to interfere with phosphorylation of Ser42, inhibiting PK enzymatic activity and accounting for increased enzymatic activity" "Germline" "yes" "" "0" "" "" "g.155300271C>T" "" "benign (dominant)" "" "0000471403" "1" "90" "1" "155270054" "155270054" "subst" "0" "01679" "PKLR_000002" "g.155270054G>A" "" "{PMID:van Wijk 2009:19085939}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155300263G>A" "" "pathogenic (recessive)" "" "0000471404" "1" "90" "1" "155260390" "155260390" "subst" "0" "01679" "PKLR_000140" "g.155260390G>T" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000471405" "1" "90" "1" "155270053" "155270053" "subst" "0" "01679" "PKLR_000003" "g.155270053C>T" "" "{PMID:Van Wijk unpublished}" "" "" "" "Germline" "" "" "0" "" "" "g.155300262C>T" "" "pathogenic" "" "0000471406" "1" "90" "1" "155270013" "155270030" "del" "0" "01679" "PKLR_000222" "g.155270013_155270030del" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "g.155300222_155300239del" "" "pathogenic (recessive)" "" "0000471407" "0" "90" "1" "155270000" "155270000" "subst" "0" "01679" "PKLR_000242" "g.155270000G>A" "" "Van Wijk unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.155300209G>A" "" "pathogenic" "" "0000471408" "1" "90" "1" "155269989" "155270004" "dup" "0" "01679" "PKLR_000194" "g.155269989_155270004dup" "" "{PMID:Kugler 2000:10679942}" "" "183-184ins16bp" "" "Germline" "" "" "0" "" "" "g.155300198_155300213dup" "" "pathogenic (recessive)" "" "0000471409" "1" "90" "1" "155269954" "155269954" "subst" "0" "01679" "PKLR_000005" "g.155269954A>G" "" "{PMID:van Wijk 2009:19085939}" "" "" "DS, SI(NA), {PKLR:73pro}" "Germline" "" "" "0" "" "" "g.155300163A>G" "" "pathogenic (recessive)" "" "0000471410" "1" "90" "1" "155269943" "155269947" "del" "0" "01679" "PKLR_000050" "g.155269943_155269947del" "" "{PMID:Zanella 1997:9160692}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155300152_155300156del" "" "pathogenic" "" "0000471411" "1" "90" "1" "155269934" "155269934" "subst" "0" "01679" "PKLR_000006" "g.155269934A>G" "" "{PMID:Uenaka 1995:7702630}" "" "" "HB, SH, {PKLR:80pro}" "Germline" "" "" "0" "" "" "g.155300143A>G" "" "pathogenic (recessive)" "" "0000471412" "1" "90" "1" "155269934" "155269934" "subst" "0" "01679" "PKLR_000006" "g.155269934A>G" "" "{PMID:Kugler 2000:10679942}" "" "" "HB, SH, {PKLR:80pro}" "Germline" "" "" "0" "" "" "g.155300143A>G" "" "pathogenic (recessive)" "" "0000471413" "0" "90" "1" "155269927" "155269927" "subst" "0" "01679" "PKLR_000226" "g.155269927G>T" "" "{PMID:Finkenstedt 2008:19120353}" "" "" "" "Germline" "" "" "0" "" "" "g.155300136G>T" "" "pathogenic" "" "0000471414" "3" "90" "1" "155269928" "155269928" "del" "0" "01679" "PKLR_000089" "g.155269928del" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "delC244" "" "Germline" "" "" "0" "" "" "g.155300137del" "" "pathogenic (recessive)" "" "0000471416" "1" "90" "1" "155269903" "155269903" "subst" "0" "01679" "PKLR_000216" "g.155269903A>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "BH, SH, {PKLR:90asn}" "Germline" "" "" "0" "" "" "g.155300112A>T" "" "pathogenic (recessive)" "" "0000471417" "2" "90" "1" "155269894" "155269894" "subst" "0" "01679" "PKLR_000081" "g.155269894G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "AS, HB, {PKLR:93ile}" "Germline" "" "" "0" "" "" "g.155300103G>A" "" "pathogenic (recessive)" "" "0000471418" "0" "90" "1" "155269889" "155269889" "subst" "1.22038E-5" "01679" "PKLR_000148" "g.155269889C>T" "" "Van Wijk 2006" "" "" "BH, NA, SH, {PKLR:95arg}" "Germline" "" "" "0" "" "" "g.155300098C>T" "" "pathogenic" "" "0000471419" "0" "90" "1" "155269889" "155269889" "subst" "1.22038E-5" "01679" "PKLR_000240" "g.155269889C>T" "" "Van Wijk 2006" "" "" "PK type" "Germline" "" "" "0" "" "" "g.155300098C>T" "" "pathogenic" "" "0000471420" "11" "90" "1" "155262974" "155267979" "del" "0" "01679" "PKLR_000084" "g.155262974_155267979del" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "del5006" "deletion exons 4-11" "Germline" "" "" "0" "" "" "g.155293183_155298188del" "" "pathogenic (recessive)" "" "0000471421" "0" "90" "1" "155262974" "155267979" "del" "0" "01679" "PKLR_000084" "g.155262974_155267979del" "" "{PMID:So 2011:22183074}" "" "" "deletion 5006 bp" "Germline" "" "" "0" "" "" "g.155293183_155298188del" "" "pathogenic" "" "0000471422" "1" "90" "1" "155265549" "155265549" "subst" "0" "01679" "PKLR_000045" "g.155265549T>G" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "IVS3-2A>C" "no detectable mRNA" "Germline" "" "" "0" "" "" "g.155295758T>G" "" "pathogenic (recessive)" "" "0000471423" "1" "90" "1" "155265549" "155265549" "subst" "0" "01679" "PKLR_000054" "g.155265549T>A" "" "{PMID:Kanno 1997:9166866}" "" "IVS3-2A>T" "" "Germline" "" "" "0" "" "" "g.155295758T>A" "" "pathogenic (recessive)" "" "0000471424" "2" "90" "1" "155265360" "155265360" "subst" "0" "01679" "PKLR_000307" "g.155265360C>T" "" "{PMID:Pissard 2006:16704447}, {PMID:Van Wijk 2007:17222205}" "" "IVS3-1G>A, IVS4 c.376-1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471425" "21" "90" "1" "155262967" "155265548" "del" "0" "01679" "PKLR_000079" "g.(155261729_155262967)_(155265548_155269888)del" "" "{PMID:Costa 2005:15642665}" "" "del ex4-10" "deletion may be identical to c.283+1914_c.1434del5006" "Germline" "" "" "0" "" "" "g.(155291938_155293176)_(155295757_155300097)del" "" "pathogenic (recessive)" "" "0000471426" "1" "90" "1" "155265524" "155265524" "del" "4.0622E-6" "01679" "PKLR_000028" "g.155265524del" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155295733del" "" "pathogenic (recessive)" "" "0000471427" "1" "90" "1" "155265524" "155265524" "del" "4.0622E-6" "01679" "PKLR_000028" "g.155265524del" "" "{PMID:Beutler 2000:10828047}" "" "307Cdel" "" "Germline" "" "" "0" "" "" "g.155295733del" "" "pathogenic (recessive)" "" "0000471428" "2" "90" "1" "155265511" "155265511" "subst" "0" "01679" "PKLR_000161" "g.155265511A>G" "" "{PMID:Baronciani 1995:7655861}" "" "" "{PKLR:107thr}" "Germline" "" "" "0" "" "" "g.155295720A>G" "" "pathogenic (recessive)" "" "0000471429" "1" "90" "1" "155265511" "155265511" "subst" "0" "01679" "PKLR_000161" "g.155265511A>G" "" "{PMID:Beutler 2000:10828047}" "" "370C" "BH, LH, {PKLR:107thr}" "Germline" "" "" "0" "" "" "g.155295720A>G" "" "pathogenic (recessive)" "" "0000471430" "1" "90" "1" "155265500" "155265500" "subst" "0" "01679" "PKLR_000220" "g.155265500C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471431" "2" "90" "1" "155265500" "155265500" "subst" "0" "01679" "PKLR_000220" "g.155265500C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "SH; PK type Utrecht, {PKLR:111arg}" "Germline" "" "" "0" "" "" "g.155295709C>T" "" "pathogenic (recessive)" "" "0000471432" "1" "90" "1" "155265488" "155265488" "subst" "0" "01679" "PKLR_000146" "g.155265488C>G" "" "{PMID:Rouger 1996:8616073}" "" "C382 (Ala114Pro)" "no variant 2nd chromosome; BH, SH, DS, HB {PKLR:115pro}" "Germline" "" "" "0" "" "" "g.155295697C>G" "" "pathogenic" "" "0000471433" "2" "90" "1" "155265481" "155265484" "delins" "0" "01679" "PKLR_000120" "g.155265481_155265484delinsCAATGTT" "" "{PMID:Pissard 2006:16704447}, {PMID:Van Wijk 2007:17222205}" "" "del346–349 ins346 aacattg\t (ArgLeu>GlnHisCys)" "" "Germline" "" "" "0" "" "" "g.155295690_155295693delinsCAATGTT" "" "pathogenic (recessive)" "" "0000471434" "2" "90" "1" "155265472" "155265472" "subst" "0" "01679" "PKLR_000117" "g.155265472G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "{PKLR:120phe}" "Germline" "" "" "0" "" "" "g.155295681G>A" "" "pathogenic (recessive)" "" "0000471435" "1" "90" "1" "155265472" "155265472" "subst" "0" "01679" "PKLR_000117" "g.155265472G>A" "" "{PMID:Rouger 1996:8616073}" "" "T398 (Ser119Phe)" "no variant 2nd chromosome; AS, DI(B), SH {PKLR:120phe}" "Germline" "" "" "0" "" "" "g.155295681G>A" "" "pathogenic" "" "0000471436" "0" "90" "1" "155265472" "155265472" "subst" "0" "01679" "PKLR_000117" "g.155265472G>A" "" "Van Wijk unpublished" "" "" "{PKLR:120phe}" "Germline" "" "" "0" "" "" "g.155295681G>A" "" "pathogenic" "" "0000471437" "1" "90" "1" "155265472" "155265472" "subst" "0" "01679" "PKLR_000117" "g.155265472G>A" "" "{PMID:Kugler 2000:10679942}" "" "" "{PKLR:120phe}" "Germline" "" "" "0" "" "" "g.155295681G>A" "" "pathogenic (recessive)" "" "0000471438" "1" "90" "1" "155265468" "155265468" "subst" "0" "01679" "PKLR_000103" "g.155265468G>T" "" "{PMID:Pissard 2006:16704447}" "" "" "NA, {PKLR:121gln}" "Germline" "" "" "0" "" "" "g.155295677G>T" "" "pathogenic (recessive)" "" "0000471439" "2" "90" "1" "155265454" "155265454" "subst" "0" "01679" "PKLR_000100" "g.155265454A>G" "" "{PMID:Pissard 2006:16704447}" "" "IVS4+2T>G" "" "Germline" "" "" "0" "" "" "g.155295663A>G" "" "pathogenic (recessive)" "" "0000471440" "2" "90" "1" "155265446" "155265446" "subst" "0.0138117" "01679" "PKLR_000020" "g.155265446C>A" "" "{PMID:Pissard 2006:16704447}" "" "IVS4+10G>T" "" "Germline" "" "" "0" "" "" "g.155295655C>A" "" "pathogenic (recessive)" "" "0000471441" "2" "90" "1" "155265446" "155265446" "subst" "0.0138117" "01679" "PKLR_000020" "g.155265446C>A" "" "{PMID:Pissard 2006:16704447}" "" "IVS4+10G>T" "" "Germline" "" "" "0" "" "" "g.155295655C>A" "" "pathogenic (recessive)" "" "0000471442" "2" "90" "1" "155265446" "155265446" "subst" "0.0138117" "01679" "PKLR_000020" "g.155265446C>A" "" "{PMID:Pissard 2006:16704447}" "" "275+10G>T" "" "Germline" "" "" "0" "" "" "g.155295655C>A" "" "pathogenic (recessive)" "" "0000471443" "11" "90" "1" "155265446" "155265446" "subst" "0.0138117" "01679" "PKLR_000020" "g.155265446C>A" "" "{PMID:Pissard 2007:17382129}" "" "374+10G>T" "" "Germline" "" "" "0" "" "" "g.155295655C>A" "" "pathogenic (recessive)" "" "0000471444" "0" "90" "1" "155265361" "155265361" "subst" "0" "01679" "PKLR_000238" "g.155265361T>G" "" "Van Wijk 2006" "" "" "retention intron 4, skipping exons 5_6" "Germline" "" "" "0" "" "" "g.155295570T>G" "" "pathogenic" "" "0000471446" "3" "90" "1" "155265248" "155265248" "subst" "0" "01679" "PKLR_000012" "g.155265248G>A" "" "{PMID:Neubauer 1991:2018831}, {OMIM609712:002}" "" "394C>T (Arg132Cys)" "DL, DI(A), NA {PKLR:163cys}" "Germline" "" "" "0" "" "" "g.155295457G>A" "" "pathogenic (recessive)" "" "0000471448" "3" "90" "1" "155265346" "155265346" "subst" "0" "01679" "PKLR_000189" "g.155265346G>T" "" "{PMID:Cohen-Solal 1998:9886305}" "" "" "SH {PKLR:130tyr}" "Germline" "" "" "0" "" "" "g.155295555G>T" "" "pathogenic (recessive)" "" "0000471449" "1" "90" "1" "155265343" "155265345" "del" "0" "01679" "PKLR_000026" "g.155265343_155265345del" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155295552_155295554del" "" "pathogenic (recessive)" "" "0000471450" "1" "90" "1" "155265343" "155265345" "del" "0" "01679" "PKLR_000026" "g.155265343_155265345del" "" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "g.155295552_155295554del" "" "pathogenic (recessive)" "" "0000471451" "2" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "01679" "PKLR_000023" "g.155265334A>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "BH, SH, {PKLR:134asp}" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic (recessive)" "" "0000471452" "0" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "01679" "PKLR_000023" "g.155265334A>T" "" "Van Wijk 2001" "" "" "BH, SH, {PKLR:134asp}" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic" "" "0000471453" "0" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "01679" "PKLR_000023" "g.155265334A>T" "" "Van Wijk unpublished" "" "" "BH, SH, {PKLR:134asp}" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic" "" "0000471454" "0" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "01679" "PKLR_000023" "g.155265334A>T" "" "Van Wijk unpublished" "" "" "BH, SH, {PKLR:134asp}" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic" "" "0000471455" "1" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "01679" "PKLR_000023" "g.155265334A>T" "" "{PMID:Beutler 2000:10828047}" "" "" "BH, SH, {PKLR:134asp}" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic (recessive)" "" "0000471456" "1" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "01679" "PKLR_000023" "g.155265334A>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "BH, SH, {PKLR:134asp}" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic (recessive)" "" "0000471457" "1" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "01679" "PKLR_000023" "g.155265334A>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "BH, SH, {PKLR:134asp}" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic (recessive)" "" "0000471458" "1" "90" "1" "155265332" "155265332" "subst" "0" "01679" "PKLR_000090" "g.155265332G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "HB, {PKLR:135trp}" "Germline" "" "" "0" "" "" "g.155295541G>A" "" "pathogenic (recessive)" "" "0000471459" "21" "90" "1" "155265326" "155265326" "subst" "0" "01679" "PKLR_000085" "g.155265326C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:137thr}" "Germline" "" "" "0" "" "" "g.155295535C>T" "" "pathogenic (recessive)" "" "0000471460" "1" "90" "1" "155265308" "155265308" "subst" "0" "01679" "PKLR_000208" "g.155265308C>T" "" "{PMID:Kedar 2009:18759866}" "" "" "DI(C), NE, {PKLR:143ser}" "Germline" "" "" "0" "" "" "g.155295517C>T" "" "pathogenic (recessive)" "" "0000471461" "0" "90" "1" "155265304" "155265304" "del" "0" "01679" "PKLR_000231" "g.155265304del" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "431_434delC" "" "Germline" "" "" "0" "" "" "g.155295513del" "" "pathogenic" "" "0000471463" "1" "90" "1" "155265275" "155265275" "subst" "0" "01679" "PKLR_000217" "g.155265275C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "no variant 2nd chromosome; BH, SH, {PKLR:154thr}" "Germline" "" "" "0" "" "" "g.155295484C>T" "" "pathogenic (recessive)" "" "0000471464" "2" "90" "1" "155265271" "155265271" "subst" "0" "01679" "PKLR_000021" "g.155265271A>G" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DS, HB, SH, BH, AS, {PKLR:155pro}" "Germline" "" "" "0" "" "" "g.155295480A>G" "" "pathogenic (recessive)" "" "0000471465" "1" "90" "1" "155265259" "155265259" "subst" "0" "01679" "PKLR_000183" "g.155265259C>A" "" "{PMID:Demina 1998:9657767}" "" "" "SH, RA, AS, DL, {PKLR:159val}" "Germline" "" "" "0" "" "" "g.155295468C>A" "" "pathogenic (recessive)" "" "0000471466" "1" "90" "1" "155265259" "155265259" "subst" "0" "01679" "PKLR_000183" "g.155265259C>A" "" "{PMID:Beutler 2000:10828047}" "" "" "SH, RA, AS, DL, {PKLR:159val}" "Germline" "" "" "0" "" "" "g.155295468C>A" "" "pathogenic (recessive)" "" "0000471467" "3" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Neubauer 1991:2018831}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471468" "3" "90" "1" "155265247" "155265247" "subst" "0" "01679" "PKLR_000219" "g.155265247C>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DL, DI(A), NA, {PKLR:163leu}" "Germline" "" "" "0" "" "" "g.155295456C>A" "" "pathogenic (recessive)" "" "0000471470" "2" "90" "1" "155265241" "155265241" "subst" "0" "01679" "PKLR_000221" "g.155265241C>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "SH, {PKLR:165val}" "Germline" "" "" "0" "" "" "g.155295450C>A" "" "pathogenic (recessive)" "" "0000471471" "1" "90" "1" "155265236" "155265236" "subst" "0" "01679" "PKLR_000205" "g.155265236G>T" "" "{PMID:Kedar 2009:18759866}" "" "" "BH, SH, {PKLR:167met}" "Germline" "" "" "0" "" "" "g.155295445G>T" "" "pathogenic (recessive)" "" "0000471472" "2" "90" "1" "155265228" "155265228" "subst" "0.000181826" "01679" "PKLR_000080" "g.155265228C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "" "Germline" "" "" "0" "" "" "g.155295437C>T" "" "pathogenic (recessive)" "" "0000471473" "11" "90" "1" "155265227" "155265227" "subst" "0" "01679" "PKLR_000077" "g.155265227C>T" "" "{PMID:Van Wijk 2004:15059150}" "" "IVS5+1G>A" "reduced mRNA expression (6/56 clones)" "Germline" "" "" "0" "" "" "g.155295436C>T" "" "pathogenic (recessive)" "" "0000471474" "2" "95" "1" "155265208" "155265208" "subst" "0" "01679" "PKLR_000212" "g.155265208G>T" "" "{PMID:Kedar 2009:18759866}" "" "" "" "Germline" "" "" "0" "" "" "g.155295417G>T" "" "VUS" "" "0000471475" "3" "90" "1" "155265087" "155265087" "subst" "4.07724E-6" "01679" "PKLR_000044" "g.155265087C>G" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "NE; PK type Sassari, {PKLR:172gln}" "Germline" "" "" "0" "" "" "g.155295296C>G" "" "pathogenic (recessive)" "" "0000471477" "3" "90" "1" "155265087" "155265087" "subst" "4.07724E-6" "01679" "PKLR_000044" "g.155265087C>G" "" "{PMID:Zarza 1998:9827908}" "" "" "NE, {PKLR:172gln}" "Germline" "" "" "0" "" "" "g.155295296C>G" "" "pathogenic (recessive)" "" "0000471478" "2" "90" "1" "155265032" "155265051" "delins" "0" "01679" "PKLR_000113" "g.155265032_155265051delinsCTT" "" "{PMID:Pissard 2006:16704447}" "" "550_570delinsAAGG" "" "Germline" "" "" "0" "" "" "g.155295241_155295260delinsCTT" "" "pathogenic (recessive)" "" "0000471479" "1" "90" "1" "155265000" "155265000" "subst" "0" "01679" "PKLR_000119" "g.155265000A>K" "" "{PMID:Pissard 2006:16704447}, {PMID:Van Wijk 2007:17222205}" "" "Trp201Arg" "HI, {PKLR:201arg}" "Germline" "" "" "0" "" "" "g.155295209A>K" "" "pathogenic (recessive)" "" "0000471480" "1" "90" "1" "155264998" "155264998" "subst" "0" "01679" "PKLR_000162" "g.155264998C>T" "" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "g.155295207C>T" "" "pathogenic (recessive)" "" "0000471481" "1" "90" "1" "155264972" "155264973" "del" "4.06491E-6" "01679" "PKLR_000175" "g.155264972_155264973del" "" "{PMID:Lenzner 1997:9057665}" "" "628delGT" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155295181_155295182del" "" "pathogenic" "" "0000471482" "3" "90" "1" "155264962" "155264962" "del" "0" "01679" "PKLR_000213" "g.155264962del" "" "{PMID:Kedar 2009:18759866}" "" "644Gdel" "" "Germline" "" "" "0" "" "" "g.155295171del" "" "pathogenic (recessive)" "" "0000471484" "1" "90" "1" "155264940" "155264940" "subst" "0" "01679" "PKLR_000086" "g.155264940C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "AS, {PKLR:221asn}" "Germline" "" "" "0" "" "" "g.155295149C>T" "" "pathogenic (recessive)" "" "0000471485" "1" "90" "1" "155264940" "155264940" "subst" "0" "01679" "PKLR_000086" "g.155264940C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "AS, {PKLR:221asn}" "Germline" "" "" "0" "" "" "g.155295149C>T" "" "pathogenic (recessive)" "" "0000471486" "0" "90" "1" "155264940" "155264940" "subst" "0" "01679" "PKLR_000145" "g.155264940C>A" "" "Minucci 2010" "" "" "detected in cis with c.375+10G>T (Pissard et al, 2006a and van Wijk et al, unpublished)." "Germline" "" "" "0" "" "" "g.155295149C>A" "" "pathogenic" "" "0000471487" "0" "90" "1" "155264941" "155264943" "dup" "0" "01679" "PKLR_000232" "g.155264941_155264943dup" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "663C>CGAC" "" "Germline" "" "" "0" "" "" "g.155295150_155295152dup" "" "pathogenic" "" "0000471488" "1" "90" "1" "155264930" "155264930" "subst" "0" "01679" "PKLR_000112" "g.155264930A>G" "" "{PMID:Pissard 2006:16704447}" "" "" "BH, LH, {PKLR:224thr}" "Germline" "" "" "0" "" "" "g.155295139A>G" "" "pathogenic (recessive)" "" "0000471489" "1" "90" "1" "155264907" "155264907" "subst" "0" "01679" "PKLR_000106" "g.155264907C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "SH, TU, {PKLR:232cys}" "Germline" "" "" "0" "" "" "g.155295116C>A" "" "pathogenic (recessive)" "" "0000471490" "0" "90" "1" "155264907" "155264907" "subst" "0" "01679" "PKLR_000106" "g.155264907C>A" "" "{PMID:Titapiwatanakun 2008:18726918}" "" "" "SH, TU, {PKLR:232cys}" "Germline" "" "" "0" "" "" "g.155295116C>A" "" "pathogenic" "" "0000471491" "0" "90" "1" "155264907" "155264907" "subst" "0" "01679" "PKLR_000203" "g.155264907C>A" "" "{PMID:Titapiwatanakun 2008:18726918}" "" "" "{PKLR:232cys}" "Germline" "" "" "0" "" "" "g.155295116C>A" "" "pathogenic" "" "0000471493" "0" "90" "1" "155264905" "155264905" "subst" "0" "01679" "PKLR_000227" "g.155264905A>C" "" "Van Wijk unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.155295114A>C" "" "pathogenic" "" "0000471494" "11" "90" "1" "155264545" "155264545" "subst" "0" "01679" "PKLR_000063" "g.155264545T>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "IVS6-2A>T" "" "Germline" "" "" "0" "" "" "g.155294754T>A" "" "pathogenic (recessive)" "" "0000471495" "1" "90" "1" "155264545" "155264545" "subst" "0" "01679" "PKLR_000063" "g.155264545T>A" "" "{PMID:Raphael 2007:17654506}" "" "IVS6-2A>T" "absent mRNA (van Wijk unpublished)" "Germline" "" "" "0" "" "" "g.155294754T>A" "" "pathogenic (recessive)" "" "0000471496" "3" "90" "1" "155264297" "155264297" "subst" "4.06395E-6" "01679" "PKLR_000015" "g.155264297A>G" "" "{PMID:Kanno 1994:7949104}" "DdeI+" "" "BH, AS; {PKLR:314thr}" "Germline" "" "" "0" "" "" "g.155294506A>G" "" "pathogenic (recessive)" "" "0000471498" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471499" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471500" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471501" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471502" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Zanella 2001:11328279}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471503" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471504" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471505" "3" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471507" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471508" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471509" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Pissard 2006:16704447}" "" "Glu241Stop" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471510" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "variant 2nd chromosome described as FScod273" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471511" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471512" "21" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Lakomek 1994:7948315}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471513" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Zarza 1998:9827908}" "" "" "no variant 2nd cromosome" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic" "" "0000471514" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Kugler 2000:10679942}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471515" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471516" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471517" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471519" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Rouger 1996:8616073}" "" "T760 (Glu240end)" "Rouen1" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000471520" "0" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "Van Wijk unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic" "" "0000471521" "1" "90" "1" "155264451" "155264451" "subst" "0" "01679" "PKLR_000171" "g.155264451C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "no variant 2nd chromosome; DL, SH, {PKLR:263arg}" "Germline" "" "" "0" "" "" "g.155294660C>T" "" "pathogenic" "" "0000471522" "0" "90" "1" "155264451" "155264451" "subst" "0" "01679" "PKLR_000171" "g.155264451C>T" "4/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "DL, SH, {PKLR:263arg}" "Germline" "" "" "0" "" "" "g.155294660C>T" "" "pathogenic" "" "0000471523" "2" "90" "1" "155264451" "155264451" "subst" "0" "01679" "PKLR_000049" "g.155264451C>A" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DL, SH; {PKLR:263trp}" "Germline" "" "" "0" "" "" "g.155294660C>A" "" "pathogenic (recessive)" "" "0000471524" "1" "90" "1" "155264442" "155264442" "subst" "0" "01679" "PKLR_000125" "g.155264442C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; UC, {PKLR:266lys}" "Germline" "" "" "0" "" "" "g.155294651C>T" "" "pathogenic" "" "0000471525" "2" "90" "1" "155264430" "155264430" "subst" "8.15142E-6" "01679" "PKLR_000033" "g.155264430G>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155294639G>A" "" "pathogenic (recessive)" "" "0000471526" "2" "90" "1" "155264430" "155264430" "subst" "8.15142E-6" "01679" "PKLR_000033" "g.155264430G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "" "Germline" "" "" "0" "" "" "g.155294639G>A" "" "pathogenic (recessive)" "" "0000471527" "0" "90" "1" "155264424" "155264424" "subst" "0.000313722" "01679" "PKLR_000214" "g.155264424G>C" "" "{PMID:Alli 2008:19055867}" "" "" "BH, LH, SH, {PKLR:272val}" "Germline" "" "" "0" "" "" "g.155294633G>C" "" "pathogenic" "" "0000471528" "1" "90" "1" "155264424" "155264424" "subst" "0.000313722" "01679" "PKLR_000214" "g.155264424G>C" "" "{PMID:Van Wijk 2009:19085939}" "" "" "no variant 2nd chromosome; homozygous for hemoglobin C; BH, LH, SH, {PKLR:272val}" "Germline" "" "" "0" "" "" "g.155294633G>C" "" "pathogenic (recessive)" "" "0000471529" "1" "90" "1" "155264424" "155264424" "subst" "0.000313722" "01679" "PKLR_000214" "g.155264424G>C" "" "{PMID:Van Wijk 2009:19085939}" "" "" "no variant 2nd chromosome; BH, LH, SH, {PKLR:272val}" "Germline" "" "" "0" "" "" "g.155294633G>C" "" "pathogenic (recessive)" "" "0000471530" "1" "90" "1" "155264423" "155264423" "subst" "0" "01679" "PKLR_000143" "g.155264423A>G" "" "{PMID:Manco 2009:19320017}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155294632A>G" "" "pathogenic" "" "0000471531" "2" "90" "1" "155264415" "155264415" "subst" "4.07222E-6" "01679" "PKLR_000052" "g.155264415C>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:275arg}" "Germline" "" "" "0" "" "" "g.155294624C>T" "" "pathogenic (recessive)" "" "0000471532" "1" "90" "1" "155264415" "155264415" "subst" "8.14445E-6" "01679" "PKLR_000158" "g.155264415C>G" "" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "BH, SH, {PKLR:275arg}" "Germline" "" "" "0" "" "" "g.155294624C>G" "" "pathogenic (recessive)" "" "0000471534" "0" "90" "1" "155264415" "155264415" "del" "0" "01679" "PKLR_000200" "g.155264415del" "" "{PMID:Ayi 2008:18420493}" "" "" "" "Germline" "" "" "0" "" "" "g.155294624del" "" "pathogenic" "" "0000471535" "0" "90" "1" "155264409" "155264409" "subst" "0.000671731" "01679" "PKLR_000156" "g.155264409C>T" "" "Van Wijk unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.155294618C>T" "" "pathogenic" "" "0000471536" "0" "90" "1" "155264397" "155264397" "subst" "0" "01679" "PKLR_000138" "g.155264397C>T" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "" "LC, DI(C), {PKLR:281asn}" "Germline" "" "" "0" "" "" "g.155294606C>T" "" "pathogenic" "" "0000471537" "1" "90" "1" "155264397" "155264397" "subst" "0" "01679" "PKLR_000138" "g.155264397C>T" "" "{PMID:Kugler 2000:10679942}" "" "" "LC, DI(C), {PKLR:281asn}" "Germline" "" "" "0" "" "" "g.155294606C>T" "" "pathogenic (recessive)" "" "0000471538" "2" "90" "1" "155264379" "155264379" "subst" "0" "01679" "PKLR_000093" "g.155264379A>G" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "AS, LH, {PKLR:287leu}" "Germline" "" "" "0" "" "" "g.155294588A>G" "" "pathogenic (recessive)" "" "0000471539" "0" "90" "1" "155264379" "155264379" "subst" "0" "01679" "PKLR_000136" "g.155264379A>C" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "" "AS, LH, {PKLR:287val}" "Germline" "" "" "0" "" "" "g.155294588A>C" "" "pathogenic" "" "0000471540" "1" "90" "1" "155264376" "155264376" "subst" "0" "01679" "PKLR_000197" "g.155264376C>A" "" "{PMID:Aizawa 2003:12949894}" "" "" "BH, AS, {PKLR:288leu}" "Germline" "" "" "0" "" "" "g.155294585C>A" "" "pathogenic (recessive)" "" "0000471541" "2" "90" "1" "155264361" "155264361" "subst" "4.06603E-6" "01679" "PKLR_000122" "g.155264361C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "NE, {PKLR:293asn}" "Germline" "" "" "0" "" "" "g.155294570C>T" "" "pathogenic (recessive)" "" "0000471542" "1" "90" "1" "155264361" "155264361" "subst" "4.06603E-6" "01679" "PKLR_000122" "g.155264361C>T" "" "{PMID:Kugler 2000:10679942}" "" "" "NE, {PKLR:293asn}" "Germline" "" "" "0" "" "" "g.155294570C>T" "" "pathogenic (recessive)" "" "0000471543" "1" "90" "1" "155264354" "155264354" "subst" "0.000113831" "01679" "PKLR_000182" "g.155264354G>A" "" "{PMID:Demina 1998:9657767}" "" "" "no variant 2nd chromosome; NE, {PKLR:295val}" "Germline" "" "" "0" "" "" "g.155294563G>A" "" "pathogenic" "" "0000471544" "1" "90" "1" "155264309" "155264309" "subst" "0" "01679" "PKLR_000215" "g.155264309A>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "BH, {PKLR:310asn}" "Germline" "" "" "0" "" "" "g.155294518A>T" "" "pathogenic (recessive)" "" "0000471545" "1" "90" "1" "155264297" "155264297" "subst" "4.06395E-6" "01679" "PKLR_000015" "g.155264297A>G" "" "{PMID:Van Wijk 2009:19085939}" "" "" "BH, AS, {PKLR:314thr}" "Germline" "" "" "0" "" "" "g.155294506A>G" "" "pathogenic (recessive)" "" "0000471546" "1" "90" "1" "155264295" "155264295" "subst" "0" "01679" "PKLR_000180" "g.155264295C>T" "" "{PMID:Demina 1998:9657767}" "" "" "AS, {PKLR:315lys}" "Germline" "" "" "0" "" "" "g.155294504C>T" "" "pathogenic (recessive)" "" "0000471547" "1" "90" "1" "155264295" "155264295" "subst" "0" "01679" "PKLR_000180" "g.155264295C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "AS, {PKLR:315lys}" "Germline" "" "" "0" "" "" "g.155294504C>T" "" "pathogenic (recessive)" "" "0000471548" "11" "90" "1" "155264290" "155264290" "subst" "0" "01679" "PKLR_000078" "g.155264290G>C" "" "{PMID:Costa 2005:15642665}" "" "" "HB, UC; {PKLR:316lys}" "Germline" "" "" "0" "" "" "g.155294499G>C" "" "pathogenic (recessive)" "" "0000471549" "1" "90" "1" "155264284" "155264286" "del" "0" "01679" "PKLR_000098" "g.155264284_155264286del" "" "{PMID:Pissard 2006:16704447}, {PMID:Van Wijk 2007:17222205}" "" "Glu318del, del c.953–956" "" "Germline" "" "" "0" "" "" "g.155294493_155294495del" "" "pathogenic (recessive)" "" "0000471550" "1" "90" "1" "155264284" "155264286" "del" "0" "01679" "PKLR_000098" "g.155264284_155264286del" "" "{PMID:Pissard 2006:16704447}" "" "Glu318del, del c.953–956" "" "Germline" "" "" "0" "" "" "g.155294493_155294495del" "" "pathogenic (recessive)" "" "0000471551" "2" "90" "1" "155264280" "155264280" "subst" "0" "01679" "PKLR_000094" "g.155264280C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:320met}" "Germline" "" "" "0" "" "" "g.155294489C>T" "" "pathogenic (recessive)" "" "0000471552" "3" "90" "1" "155264150" "155264150" "subst" "4.06293E-6" "01679" "PKLR_000133" "g.155264150T>C" "" "{PMID:Kedar 2009:18759866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471553" "11" "50" "1" "155264280" "155264280" "subst" "2.43853E-5" "01679" "PKLR_000134" "g.155264280C>G" "" "{PMID:Raphael 2007:17654506}, {PMID:Van Wijk 2009:19085939}" "" "" "BH, SH; not in 100 control chromosomes, {PKLR:320leu}" "Germline" "" "" "0" "" "" "g.155294489C>G" "" "VUS" "" "0000471554" "3" "90" "1" "155264272" "155264272" "subst" "0" "01679" "PKLR_000056" "g.155264272C>A" "" "{PMID:Kanno 1997:9166866}" "HphI-" "IVS7+1G>T" "" "Germline" "" "" "0" "" "" "g.155294481C>A" "" "pathogenic (recessive)" "" "0000471556" "3" "90" "1" "155264272" "155264272" "subst" "0" "01679" "PKLR_000056" "g.155264272C>A" "" "{PMID:Kanno 1997:9166866}" "HphI-" "IVS7+1G>T" "" "Germline" "" "" "0" "" "" "g.155294481C>A" "" "pathogenic (recessive)" "" "0000471559" "1" "90" "1" "155264152" "155264152" "subst" "0" "01679" "PKLR_000101" "g.155264152G>T" "" "{PMID:Pissard 2006:16704447}" "" "" "SH, HB, {PKLR:330arg}" "Germline" "" "" "0" "" "" "g.155294361G>T" "" "pathogenic (recessive)" "" "0000471561" "1" "90" "1" "155264151" "155264151" "subst" "8.12612E-6" "01679" "PKLR_000068" "g.155264151C>T" "" "{PMID:Zanella 2001:11328279}" "" "" "no variant 2nd chromosome; LC, {PKLR:331asn}" "Germline" "" "" "0" "" "" "g.155294360C>T" "" "pathogenic (recessive)" "" "0000471562" "1" "90" "1" "155264151" "155264151" "subst" "8.12612E-6" "01679" "PKLR_000068" "g.155264151C>T" "" "{PMID:Kugler 2000:10679942}" "" "" "LC, {PKLR:331asn}" "Germline" "" "" "0" "" "" "g.155294360C>T" "" "pathogenic (recessive)" "" "0000471563" "3" "90" "1" "155264150" "155264150" "subst" "4.06293E-6" "01679" "PKLR_000133" "g.155264150T>C" "" "{PMID:Gupta 2007:17191259}" "" "" "LC, {PKLR:331gly}" "Germline" "" "" "0" "" "" "g.155294359T>C" "" "pathogenic (recessive)" "" "0000471565" "1" "90" "1" "155264150" "155264150" "subst" "4.06293E-6" "01679" "PKLR_000133" "g.155264150T>C" "" "{PMID:Kedar 2009:18759866}" "" "" "LC, {PKLR:331gly}" "Germline" "" "" "0" "" "" "g.155294359T>C" "" "pathogenic (recessive)" "" "0000471566" "2" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "01679" "PKLR_000034" "g.155264149G>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "SH; PK type Parma, {PKLR:331glu}" "Germline" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic (recessive)" "" "0000471567" "2" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "01679" "PKLR_000034" "g.155264149G>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "SH; PK type Parma, {PKLR:331glu}" "Germline" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic (recessive)" "" "0000471568" "2" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "01679" "PKLR_000034" "g.155264149G>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "SH; PK type Parma, {PKLR:331glu}" "Germline" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic (recessive)" "" "0000471569" "2" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "01679" "PKLR_000034" "g.155264149G>T" "" "{PMID:Manco 1999:10354117}" "" "" "SH, {PKLR:331glu}" "Germline" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic (recessive)" "" "0000471570" "1" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "01679" "PKLR_000034" "g.155264149G>T" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; SH, {PKLR:331glu}" "Germline" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic" "" "0000471571" "1" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "01679" "PKLR_000034" "g.155264149G>T" "" "{PMID:Manco 2008:18846674}" "" "" "SH, {PKLR:331glu}" "Germline" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic (recessive)" "" "0000471572" "0" "90" "1" "155264149" "155264149" "subst" "9.34701E-5" "01679" "PKLR_000034" "g.155264149G>T" "" "Van Wijk unpublished" "" "" "SH, {PKLR:331glu}" "Germline" "" "" "0" "" "" "g.155294358G>T" "" "pathogenic" "" "0000471574" "1" "90" "1" "155264120" "155264120" "subst" "9.34701E-5" "01679" "PKLR_000184" "g.155264120C>T" "" "{PMID:Demina 1998:9657767}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000471575" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471576" "2" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471577" "3" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471579" "3" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471581" "2" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471582" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471583" "0" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "Layton 1996" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic" "" "0000471584" "0" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "Van Wijk unpublished" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic" "" "0000471585" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471586" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471587" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000471588" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Pastore 1998:9482576}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic" "" "0000471590" "0" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "4/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic" "" "0000471591" "0" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Perseu 2010:20870434}" "" "" "SH, {PKLR:332ser}" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic" "" "0000471592" "2" "90" "1" "155264139" "155264139" "subst" "0" "01679" "PKLR_000072" "g.155264139C>T" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, AS, {PKLR:335met}" "Germline" "" "" "0" "" "" "g.155294348C>T" "" "pathogenic (recessive)" "" "0000471593" "1" "90" "1" "155264136" "155264136" "subst" "0" "01679" "PKLR_000163" "g.155264136C>A" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "no variant 2nd chromosome; AS, SH, {PKLR:336ser}" "Germline" "" "" "0" "" "" "g.155294345C>A" "" "pathogenic" "" "0000471594" "0" "90" "1" "155264136" "155264136" "subst" "0" "01679" "PKLR_000163" "g.155264136C>A" "1/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "AS, SH, {PKLR:336ser}" "Germline" "" "" "0" "" "" "g.155294345C>A" "" "pathogenic" "" "0000471595" "2" "90" "1" "155264133" "155264133" "subst" "4.06316E-6" "01679" "PKLR_000114" "g.155264133G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "AS, SH, SI(A), LC, {PKLR:337trp}" "Germline" "" "" "0" "" "" "g.155294342G>A" "" "pathogenic (recessive)" "" "0000471596" "1" "90" "1" "155264133" "155264133" "subst" "4.06316E-6" "01679" "PKLR_000114" "g.155264133G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "AS, SH, SI(A), LC, {PKLR:337trp}" "Germline" "" "" "0" "" "" "g.155294342G>A" "" "pathogenic (recessive)" "" "0000471597" "1" "90" "1" "155264132" "155264132" "subst" "0" "01679" "PKLR_000111" "g.155264132C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "AS, LC, SI(A), {PKLR:337gln}" "Germline" "" "" "0" "" "" "g.155294341C>T" "" "pathogenic (recessive)" "" "0000471598" "1" "90" "1" "155264132" "155264132" "subst" "0" "01679" "PKLR_000111" "g.155264132C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "AS, LC, SI(A), {PKLR:337gln}" "Germline" "" "" "0" "" "" "g.155294341C>T" "" "pathogenic (recessive)" "" "0000471599" "2" "90" "1" "155264132" "155264132" "subst" "0" "01679" "PKLR_000111" "g.155264132C>T" "" "{PMID:Zarza 1998:9827908}" "" "" "AS, LC, SI(A), {PKLR:337gln}" "Germline" "" "" "0" "" "" "g.155294341C>T" "" "pathogenic (recessive)" "" "0000471600" "0" "90" "1" "155264132" "155264132" "subst" "0" "01679" "PKLR_000111" "g.155264132C>T" "" "{PMID:Finkenstedt 2008:19120353}" "" "" "AS, LC, SI(A), {PKLR:337gln}" "Germline" "" "" "0" "" "" "g.155294341C>T" "" "pathogenic" "" "0000471601" "1" "90" "1" "155264132" "155264132" "subst" "0" "01679" "PKLR_000178" "g.155264132C>G" "" "{PMID:Pastore 1998:9482576}" "" "" "no variant 2nd chromosome; AS, LC, SI(A), {PKLR:337pro}" "Germline" "" "" "0" "" "" "g.155294341C>G" "" "pathogenic" "" "0000471602" "0" "90" "1" "155264132" "155264132" "subst" "0" "01679" "PKLR_000178" "g.155264132C>G" "3/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "AS, LC, SI(A), {PKLR:337pro}" "Germline" "" "" "0" "" "" "g.155294341C>G" "" "pathogenic" "" "0000471603" "3" "90" "1" "155264132" "155264132" "del" "0" "01679" "PKLR_000073" "g.155264132del" "" "{PMID:Zanella 2001:11328279}" "" "1010delG" "" "Germline" "" "" "0" "" "" "g.155294341del" "" "pathogenic (recessive)" "" "0000471605" "3" "90" "1" "155264132" "155264132" "del" "0" "01679" "PKLR_000073" "g.155264132del" "" "{PMID:Cotton 2001:11548197}" "" "1010delG" "" "Germline" "" "" "0" "" "" "g.155294341del" "" "pathogenic (recessive)" "" "0000471606" "1" "90" "1" "155264127" "155264127" "subst" "1.62545E-5" "01679" "PKLR_000004" "g.155264127C>T" "" "{PMID:Van Wijk unpublished}" "" "" "AS, LC, {PKLR:339asn}" "Germline" "" "" "0" "" "" "g.155294336C>T" "" "pathogenic" "" "0000471607" "0" "90" "1" "155264127" "155264127" "subst" "4.06362E-6" "01679" "PKLR_000149" "g.155264127C>G" "" "Van Wijk unpublished" "" "" "AS, LC, {PKLR:339his}" "Germline" "" "" "0" "" "" "g.155294336C>G" "" "pathogenic" "" "0000471608" "3" "90" "1" "155264127" "155264127" "subst" "4.06362E-6" "01679" "PKLR_000149" "g.155264127C>G" "" "{PMID:Zarza 1998:9827908}" "" "(Asp339Gln)" "AS, LC; detected in cis with c.993C>A (van Wijk, unpublished); erroneously reported to encode Asp339Gln; {PKLR:339his}" "Germline" "" "" "0" "" "" "g.155294336C>G" "" "pathogenic (recessive)" "" "0000471609" "1" "90" "1" "155264120" "155264120" "subst" "0" "01679" "PKLR_000184" "g.155264120C>T" "" "{PMID:Demina 1998:9657767}" "" "" "SI(A), SH, {PKLR:341asp}" "Germline" "" "" "0" "" "" "g.155294329C>T" "" "pathogenic (recessive)" "" "0000471610" "1" "90" "1" "155264120" "155264120" "subst" "0" "01679" "PKLR_000184" "g.155264120C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "SI(A), SH, {PKLR:341asp}" "Germline" "" "" "0" "" "" "g.155294329C>T" "" "pathogenic (recessive)" "" "0000471611" "2" "90" "1" "155264120" "155264120" "subst" "0" "01679" "PKLR_000035" "g.155264120C>G" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "SI(A), SH, {PKLR:341ala}" "Germline" "" "" "0" "" "" "g.155294329C>G" "" "pathogenic (recessive)" "" "0000471612" "0" "90" "1" "155264120" "155264120" "subst" "0" "01679" "PKLR_000035" "g.155264120C>G" "" "{PMID:Lyon 2011:21794208}" "" "" "SI(A), SH, {PKLR:341ala}" "Germline" "" "" "0" "" "" "g.155294329C>G" "" "pathogenic" "" "0000471613" "0" "90" "1" "155264118" "155264118" "subst" "0" "01679" "PKLR_000141" "g.155264118T>A" "" "Layton 1996" "" "" "SH, DI(B), {PKLR:342phe}" "Germline" "" "" "0" "" "" "g.155294327T>A" "" "pathogenic" "" "0000471614" "2" "90" "1" "155264100" "155264102" "del" "0" "01679" "PKLR_000066" "g.155264100_155264102del" "" "{PMID:Zanella 2001:11328279}" "" "" "" "Germline" "" "" "0" "" "" "g.155294309_155294311del" "" "pathogenic (recessive)" "" "0000471615" "1" "90" "1" "155264100" "155264102" "del" "0" "01679" "PKLR_000066" "g.155264100_155264102del" "" "{PMID:Kedar 2009:18759866}" "" "1042-1044AAGdel" "" "Germline" "" "" "0" "" "" "g.155294309_155294311del" "" "pathogenic (recessive)" "" "0000471616" "2" "90" "1" "155264098" "155264098" "subst" "0" "01679" "PKLR_000058" "g.155264098C>A" "" "{PMID:Kanno 1997:9166866}" "" "" "SI(A), LC, {PKLR:348asn}" "Germline" "" "" "0" "" "" "g.155294307C>A" "" "pathogenic (recessive)" "" "0000471617" "1" "90" "1" "155264087" "155264087" "subst" "4.06114E-6" "01679" "PKLR_000193" "g.155264087G>T" "" "{PMID:Kugler 2000:10679942}" "" "" "BH, SH, SI(A), {PKLR:352asp}" "Germline" "" "" "0" "" "" "g.155294296G>T" "" "pathogenic (recessive)" "" "0000471618" "21" "90" "1" "155264082" "155264084" "del" "0" "01679" "PKLR_000167" "g.155264082_155264084del" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "delAAG1060–62, 1060delAAG" "" "Germline" "" "" "0" "" "" "g.155294291_155294293del" "" "pathogenic (recessive)" "" "0000471619" "1" "90" "1" "155264082" "155264084" "del" "0" "01679" "PKLR_000167" "g.155264082_155264084del" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "delAAG1060-62, 1060delAAG" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155294291_155294293del" "" "pathogenic (recessive)" "" "0000471620" "1" "90" "1" "155264082" "155264084" "del" "0" "01679" "PKLR_000167" "g.155264082_155264084del" "" "{PMID:Lenzner 1997:9057665}" "" "1058_1063delAGA" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155294291_155294293del" "" "pathogenic" "" "0000471621" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471622" "2" "90" "1" "155264072" "155264072" "subst" "1.62441E-5" "01679" "PKLR_000186" "g.155264072A>G" "" "{PMID:Zarza 1998:9827908}" "" "" "BH, LH, {PKLR:357thr}" "Germline" "" "" "0" "" "" "g.155294281A>G" "" "pathogenic (recessive)" "" "0000471623" "1" "90" "1" "155264070" "155264070" "subst" "0" "01679" "PKLR_000206" "g.155264070C>T" "" "{PMID:Kedar 2009:18759866}" "" "" "BH, SI(AN), SH, {PKLR:358arg}" "Germline" "" "" "0" "" "" "g.155294279C>T" "" "pathogenic (recessive)" "" "0000471624" "3" "90" "1" "155264069" "155264069" "subst" "0" "01679" "PKLR_000218" "g.155264069C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "BH, SI(AN), SH, {PKLR:358glu}" "Germline" "" "" "0" "" "" "g.155294278C>T" "" "pathogenic (recessive)" "" "0000471625" "0" "90" "1" "155264069" "155264069" "subst" "0" "01679" "PKLR_000218" "g.155264069C>T" "" "{PMID:So 2011:22183074}" "" "" "BH, SI(AN), SH, {PKLR:358glu}" "Germline" "" "" "0" "" "" "g.155294278C>T" "" "pathogenic" "" "0000471626" "2" "90" "1" "155264067" "155264067" "subst" "2.84262E-5" "01679" "PKLR_000055" "g.155264067G>A" "" "{PMID:Kanno 1997:9166866}" "" "" "SI(AN), LC, {PKLR:359cys}" "Germline" "" "" "0" "" "" "g.155294276G>A" "" "pathogenic (recessive)" "" "0000471627" "1" "90" "1" "155264066" "155264066" "subst" "4.06091E-6" "01679" "PKLR_000024" "g.155264066C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "no variant 2nd chromosome; SI(AN), SH, LC, {PKLR:359his}" "Germline" "" "" "0" "" "" "g.155294275C>T" "" "pathogenic (recessive)" "" "0000471628" "2" "90" "1" "155264063" "155264063" "subst" "4.06091E-6" "01679" "PKLR_000105" "g.155264063C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "BH, SH, {PKLR:360tyr}" "Germline" "" "" "0" "" "" "g.155294272C>T" "" "pathogenic (recessive)" "" "0000471630" "11" "90" "1" "155264063" "155264063" "subst" "4.06091E-6" "01679" "PKLR_000105" "g.155264063C>T" "" "{PMID:Pissard 2007:17382129}" "" "1078G>C (C360Y)" "BH, SH, {PKLR:360tyr}" "Germline" "" "" "0" "" "" "g.155294272C>T" "" "pathogenic (recessive)" "" "0000471631" "1" "90" "1" "155264061" "155264061" "subst" "1.21829E-5" "01679" "PKLR_000164" "g.155264061T>C" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "HB, {PKLR:361asp}" "Germline" "" "" "0" "" "" "g.155294270T>C" "" "pathogenic (recessive)" "" "0000471632" "1" "90" "1" "155264061" "155264061" "subst" "1.21829E-5" "01679" "PKLR_000164" "g.155264061T>C" "" "{PMID:Lenzner 1997:9057665}, {PMID:Lenzner 1997:9057665}" "" "" "HB, {PKLR:361asp}" "Germline" "" "" "0" "" "" "g.155294270T>C" "" "pathogenic (recessive)" "" "0000471633" "2" "90" "1" "155264053" "155264053" "dup" "0" "01679" "PKLR_000025" "g.155264053dup" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "1089_1091insG" "" "Germline" "" "" "0" "" "" "g.155294262dup" "" "pathogenic (recessive)" "" "0000471634" "3" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "01679" "PKLR_000102" "g.155264051C>T" "" "{PMID:Pissard 2006:16704447}, {PMID:Van Wijk 2007:17222205}" "" "Gly364Glu" "DI(C), SH, {PKLR:364asp}" "Germline" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic (recessive)" "" "0000471636" "0" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "01679" "PKLR_000102" "g.155264051C>T" "" "Van Wijk unpublished" "" "" "DI(C), SH, {PKLR:364asp}" "Germline" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic" "" "0000471637" "3" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "01679" "PKLR_000102" "g.155264051C>T" "" "{PMID:Van Solinge 1997:9389718}" "" "" "DI(C), SH; {PKLR:364asp}" "Germline" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic" "" "0000471638" "1" "90" "1" "155264048" "155264048" "subst" "0" "01679" "PKLR_000096" "g.155264048T>A" "" "{PMID:Fermo 2005:15953013}" "" "" "no variant 2nd chromosome; HB, {PKLR:365met}" "Germline" "" "" "0" "" "" "g.155294257T>A" "" "pathogenic (recessive)" "" "0000471639" "2" "90" "1" "155264048" "155264048" "subst" "0" "01679" "PKLR_000096" "g.155264048T>A" "" "{PMID:Pissard 2006:16704447}" "" "" "HB, {PKLR:365met}" "Germline" "" "" "0" "" "" "g.155294257T>A" "" "pathogenic (recessive)" "" "0000471641" "1" "90" "1" "155264040" "155264040" "subst" "0" "01679" "PKLR_000169" "g.155264040C>A" "" "{PMID:Kanno 1993:8476433}" "" "" "no variant 2nd chromosome; BH, SH, DI(C) {PKLR:368phe}" "Germline" "" "" "0" "" "" "g.155294249C>A" "" "pathogenic" "" "0000471642" "2" "90" "1" "155264030" "155264030" "subst" "0" "01679" "PKLR_000116" "g.155264030G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "AS, HB, SH, {PKLR:371ile}" "Germline" "" "" "0" "" "" "g.155294239G>A" "" "pathogenic (recessive)" "" "0000471643" "3" "90" "1" "155264024" "155264024" "subst" "1.62451E-5" "01679" "PKLR_000060" "g.155264024A>C" "" "{PMID:Manco 1999:10354117}, {PMID:Manco 2002:12181074}" "" "IVS8+T>G" "" "Germline" "" "" "0" "" "" "g.155294233A>C" "" "pathogenic (recessive)" "" "0000471645" "3" "90" "1" "155264024" "155264024" "subst" "1.62451E-5" "01679" "PKLR_000060" "g.155264024A>C" "" "{PMID:Manco 1999:10354117}" "" "IVS8+T>G" "" "Germline" "" "" "0" "" "" "g.155294233A>C" "" "pathogenic (recessive)" "" "0000471647" "1" "90" "1" "155264024" "155264024" "subst" "1.62451E-5" "01679" "PKLR_000060" "g.155264024A>C" "" "{PMID:Manco 1999:10354117}" "" "IVS8+T>G" "" "Germline" "" "" "0" "" "" "g.155294233A>C" "" "pathogenic (recessive)" "" "0000471648" "1" "90" "1" "155264024" "155264024" "subst" "1.62451E-5" "01679" "PKLR_000060" "g.155264024A>C" "" "{PMID:Manco 1999:10354117}" "" "IVS8+T>G" "" "Germline" "" "" "0" "" "" "g.155294233A>C" "" "pathogenic (recessive)" "" "0000471649" "1" "90" "1" "155264024" "155264024" "subst" "1.62451E-5" "01679" "PKLR_000060" "g.155264024A>C" "" "{PMID:Manco 1999:10354117}, {PMID:Manco 2002:12181074}" "" "IVS8+T>G" "" "Germline" "" "" "0" "" "" "g.155294233A>C" "" "pathogenic (recessive)" "" "0000471650" "2" "90" "1" "155264024" "155264024" "subst" "1.62451E-5" "01679" "PKLR_000060" "g.155264024A>C" "" "{PMID:Pissard 2006:16704447}" "" "IVS8+2T>G" "" "Germline" "" "" "0" "" "" "g.155294233A>C" "" "pathogenic (recessive)" "" "0000471651" "2" "90" "1" "155264024" "155264024" "subst" "1.62451E-5" "01679" "PKLR_000060" "g.155264024A>C" "" "{PMID:Coutinho et al. 2009:19036089}" "" "IVS8+2T>C" "" "Germline" "" "" "0" "" "" "g.155294233A>C" "" "pathogenic" "" "0000471654" "3" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Kanno 1991:1896471}, {OMIM609712:004}" "" "" "SI(A), HB {PKLR:384met}" "Germline" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic" "" "0000471657" "3" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Kanno 1991:1896471}" "" "" "SI(A), HB {PKLR:384met}" "Germline" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic (recessive)" "" "0000471660" "0" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Kanno 1991:1896471}, {OMIM609712:004}" "" "" "expression cloning E.coli, thermolabile PK, {PKLR:384met}" "In vitro (cloned)" "" "" "0" "" "" "g.155293556G>A" "" "NA" "" "0000471661" "3" "90" "1" "155263237" "155263237" "subst" "0" "01679" "PKLR_000011" "g.155263237G>T" "" "{PMID:Kanno 1992:1536957}, {OMIM609712:005}" "" "" "SH, HB;" "Germline" "" "" "0" "" "" "g.155293446G>T" "" "pathogenic (recessive)" "" "0000471665" "3" "90" "1" "155263237" "155263237" "subst" "0" "01679" "PKLR_000011" "g.155263237G>T" "" "{PMID:Kanno 1994:7949104}" "Fnu4HI-" "" "SH, HB; {PKLR:421lys}" "Germline" "" "" "0" "" "" "g.155293446G>T" "" "pathogenic (recessive)" "" "0000471667" "2" "10" "1" "155265446" "155265446" "subst" "0.0138117" "01679" "PKLR_000020" "g.155265446C>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155295655C>A" "" "benign" "" "0000471668" "0" "90" "1" "155264152" "155264152" "subst" "0" "01679" "PKLR_000236" "g.155264152G>A" "" "Van Wijk 2006" "" "" "cryptic splicing exon 8" "Germline" "" "" "0" "" "" "g.155294361G>A" "" "pathogenic" "" "0000471669" "0" "90" "1" "155263377" "155263377" "subst" "0" "01679" "PKLR_000152" "g.155263377A>G" "" "Van Wijk unpublished" "" "" "RA, BH, SH, {PKLR:374pro}" "Germline" "" "" "0" "" "" "g.155293586A>G" "" "pathogenic" "" "0000471670" "1" "90" "1" "155263377" "155263377" "subst" "0" "01679" "PKLR_000152" "g.155263377A>G" "" "{PMID:Van Wijk 2009:19085939}" "" "" "RA, BH, SH, {PKLR:374pro}" "Germline" "" "" "0" "" "" "g.155293586A>G" "" "pathogenic (recessive)" "" "0000471671" "1" "90" "1" "155263371" "155263371" "subst" "0" "01679" "PKLR_000173" "g.155263371C>A" "" "{PMID:Lenzner 1997:9057665}" "" "" "SH, HB, {PKLR:376ile}" "Germline" "" "" "0" "" "" "g.155293580C>A" "" "pathogenic (recessive)" "" "0000471672" "2" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "SI(A), HB, {PKLR:384met}" "Germline" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic (recessive)" "" "0000471673" "3" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Lakomek 1994:7948315}" "" "" "SI(A), HB; {PKLR:384met}" "Germline" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic (recessive)" "" "0000471674" "3" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Beutler 2000:10828047}" "" "" "SI(A), HB, {PKLR:384met}" "Germline" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic (recessive)" "" "0000471675" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471676" "3" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Kanno 1992:1536957}" "" "" "SI(A), HB {PKLR:384met}" "Germline" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic (recessive)" "" "0000471677" "3" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "01679" "PKLR_000009" "g.155263347G>A" "" "{PMID:Kanno 1992:1536957}" "" "" "SI(A), HB {PKLR:384met}" "Germline" "" "" "0" "" "" "g.155293556G>A" "" "pathogenic (recessive)" "" "0000471679" "1" "90" "1" "155263345" "155263345" "subst" "0" "01679" "PKLR_000196" "g.155263345T>A" "" "{PMID:Beutler 2000:10828047}" "" "" "SI(A), LC, SH, HB, {PKLR:385trp}" "Germline" "" "" "0" "" "" "g.155293554T>A" "" "pathogenic (recessive)" "" "0000471680" "1" "90" "1" "155263344" "155263344" "subst" "0" "01679" "PKLR_000110" "g.155263344C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "SI(A), HB, {PKLR:385lys}" "Germline" "" "" "0" "" "" "g.155293553C>T" "" "pathogenic (recessive)" "" "0000471681" "1" "90" "1" "155263344" "155263344" "subst" "0" "01679" "PKLR_000110" "g.155263344C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "SI(A), HB, {PKLR:385lys}" "Germline" "" "" "0" "" "" "g.155293553C>T" "" "pathogenic (recessive)" "" "0000471682" "1" "90" "1" "155263344" "155263344" "subst" "0" "01679" "PKLR_000110" "g.155263344C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "SI(A), HB, {PKLR:385lys}" "Germline" "" "" "0" "" "" "g.155293553C>T" "" "pathogenic (recessive)" "" "0000471683" "2" "90" "1" "155263338" "155263338" "subst" "0" "01679" "PKLR_000069" "g.155263338T>C" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "HB, LH, {PKLR:387gly}" "Germline" "" "" "0" "" "" "g.155293547T>C" "" "pathogenic (recessive)" "" "0000471684" "1" "90" "1" "155263330" "155263330" "subst" "0" "01679" "PKLR_000047" "g.155263330C>T" "" "{PMID:Zanella 1997:9160692}" "" "" "no variant 2nd chromosome; LC, SI(A); {PKLR:390asn}" "Germline" "" "" "0" "" "" "g.155293539C>T" "" "pathogenic" "" "0000471685" "2" "90" "1" "155263330" "155263330" "subst" "0" "01679" "PKLR_000047" "g.155263330C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "LC, SI(A), {PKLR:390asn}" "Germline" "" "" "0" "" "" "g.155293539C>T" "" "pathogenic (recessive)" "" "0000471686" "0" "90" "1" "155263330" "155263330" "subst" "0" "01679" "PKLR_000047" "g.155263330C>T" "" "Van Wijk unpublished" "" "" "LC, SI(A), {PKLR:390asn}" "Germline" "" "" "0" "" "" "g.155293539C>T" "" "pathogenic" "" "0000471687" "1" "90" "1" "155263330" "155263330" "subst" "0" "01679" "PKLR_000047" "g.155263330C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "LC, SI(A), {PKLR:390asn}" "Germline" "" "" "0" "" "" "g.155293539C>T" "" "pathogenic" "" "0000471688" "3" "90" "1" "155263330" "155263330" "subst" "0" "01679" "PKLR_000047" "g.155263330C>T" "2/74 cases" "{PMID:Yavarian 2008:17977029}" "" "" "LC, SI(A), {PKLR:390asn}" "Germline" "" "" "0" "" "" "g.155293539C>T" "" "pathogenic (recessive)" "" "0000471689" "1" "90" "1" "155263324" "155263324" "subst" "4.06141E-6" "01679" "PKLR_000166" "g.155263324C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "no variant 2nd chromosome; SI(A), SH, BH, {PKLR:392thr}" "Germline" "" "" "0" "" "" "g.155293533C>T" "" "pathogenic" "" "0000471690" "0" "90" "1" "155263324" "155263324" "subst" "4.06141E-6" "01679" "PKLR_000166" "g.155263324C>T" "1/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "SI(A), SH, BH, {PKLR:392thr}" "Germline" "" "" "0" "" "" "g.155293533C>T" "" "pathogenic" "" "0000471691" "2" "90" "1" "155263321" "155263321" "subst" "0" "01679" "PKLR_000123" "g.155263321T>C" "" "{PMID:Pissard 2006:16704447}" "" "" "SI(A), {PKLR:393asp}" "Germline" "" "" "0" "" "" "g.155293530T>C" "" "pathogenic (recessive)" "" "0000471693" "2" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471694" "2" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471695" "1" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Pissard 2006:16704447}" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471696" "2" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Pissard 2006:16704447}" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471697" "11" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Pissard 2007:17382129}" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471698" "0" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "Minucci 2010" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic" "" "0000471699" "1" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Rouger 1996:8616073}" "" "G1217 (Asn392Ser)" "SI(A), HB {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471700" "0" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "Van Wijk unpublished" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic" "" "0000471701" "1" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Van Wijk 2009:19085939}" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471702" "1" "90" "1" "155263320" "155263320" "subst" "8.12262E-6" "01679" "PKLR_000019" "g.155263320T>C" "" "{PMID:Manco 2010:19758413}" "" "" "SI(A), HB, {PKLR:393ser}" "Germline" "" "" "0" "" "" "g.155293529T>C" "" "pathogenic (recessive)" "" "0000471703" "2" "90" "1" "155263319" "155263319" "subst" "4.06114E-6" "01679" "PKLR_000031" "g.155263319A>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "SI(A), SH, HB, {PKLR:393lys}" "Germline" "" "" "0" "" "" "g.155293528A>T" "" "pathogenic (recessive)" "" "0000471704" "1" "90" "1" "155263318" "155263318" "subst" "0" "01679" "PKLR_000204" "g.155263318C>A" "" "{PMID:Kedar 2009:18759866}" "" "" "BH, HI, {PKLR:394ser}" "Germline" "" "" "0" "" "" "g.155293527C>A" "" "pathogenic (recessive)" "" "0000471705" "2" "90" "1" "155263317" "155263317" "subst" "0" "01679" "PKLR_000071" "g.155263317G>T" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:394asp}" "Germline" "" "" "0" "" "" "g.155293526G>T" "" "pathogenic (recessive)" "" "0000471706" "2" "90" "1" "155263317" "155263317" "subst" "0" "01679" "PKLR_000070" "g.155263317G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:394val}" "Germline" "" "" "0" "" "" "g.155293526G>A" "" "pathogenic (recessive)" "" "0000471707" "2" "90" "1" "155263308" "155263308" "subst" "0" "01679" "PKLR_000091" "g.155263308T>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "HB, {PKLR:397val}" "Germline" "" "" "0" "" "" "g.155293517T>A" "" "pathogenic (recessive)" "" "0000471708" "1" "90" "1" "155263308" "155263308" "subst" "0" "01679" "PKLR_000091" "g.155263308T>A" "" "{PMID:Kedar 2009:18759866}" "" "" "HB, {PKLR:397val}" "Germline" "" "" "0" "" "" "g.155293517T>A" "" "pathogenic (recessive)" "" "0000471709" "1" "90" "1" "155263305" "155263305" "subst" "0" "01679" "PKLR_000115" "g.155263305C>G" "" "{PMID:Pissard 2006:16704447}" "" "" "RA, {PKLR:398ala}" "Germline" "" "" "0" "" "" "g.155293514C>G" "" "pathogenic (recessive)" "" "0000471710" "3" "90" "1" "155263306" "155263306" "del" "0" "01679" "PKLR_000234" "g.155263306del" "" "{PMID:Rouger 1996:8650134}" "" "1192_1195delG" "" "Germline" "" "" "0" "" "" "g.155293515del" "" "pathogenic (recessive)" "" "0000471711" "21" "90" "1" "155263294" "155263296" "dup" "0" "01679" "PKLR_000168" "g.155263294_155263296dup" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "after 1203 insAGC" "" "Germline" "" "" "0" "" "" "g.155293503_155293505dup" "" "pathogenic (recessive)" "" "0000471712" "2" "90" "1" "155263289" "155263289" "subst" "4.06098E-6" "01679" "PKLR_000087" "g.155263289C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:403ile}" "Germline" "" "" "0" "" "" "g.155293498C>T" "" "pathogenic (recessive)" "" "0000471713" "2" "90" "1" "155263289" "155263289" "subst" "4.06098E-6" "01679" "PKLR_000087" "g.155263289C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:403ile}" "Germline" "" "" "0" "" "" "g.155293498C>T" "" "pathogenic (recessive)" "" "0000471714" "2" "90" "1" "155263289" "155263289" "subst" "4.06098E-6" "01679" "PKLR_000087" "g.155263289C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:403ile}" "Germline" "" "" "0" "" "" "g.155293498C>T" "" "pathogenic (recessive)" "" "0000471715" "0" "90" "1" "155263289" "155263289" "subst" "4.06098E-6" "01679" "PKLR_000087" "g.155263289C>T" "" "{PMID:Minucci 2011:21821016}" "" "" "BH, SH, {PKLR:403ile}" "Germline" "" "" "0" "" "" "g.155293498C>T" "" "pathogenic" "" "0000471716" "1" "90" "1" "155263282" "155263282" "subst" "0" "01679" "PKLR_000207" "g.155263282C>T" "" "{PMID:Kedar 2009:18759866}" "" "" "DI(B), NA, {PKLR:406arg}" "Germline" "" "" "0" "" "" "g.155293491C>T" "" "pathogenic (recessive)" "" "0000471717" "1" "90" "1" "155263279" "155263279" "subst" "0" "01679" "PKLR_000121" "g.155263279C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "HB, SH, UC, NA, {PKLR:407lys}" "Germline" "" "" "0" "" "" "g.155293488C>T" "" "pathogenic (recessive)" "" "0000471718" "3" "90" "1" "155263136" "155263136" "subst" "0" "01679" "PKLR_000211" "g.155263136T>G" "" "{PMID:Kedar 2009:18759866}" "" "IVS9(+93)A>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471719" "3" "90" "1" "155263278" "155263278" "subst" "0" "01679" "PKLR_000209" "g.155263278T>C" "" "{PMID:Kedar 2009:18759866}" "" "" "LC, HB, LH, NA, {PKLR:407gly}" "Germline" "" "" "0" "" "" "g.155293487T>C" "" "pathogenic (recessive)" "" "0000471720" "0" "90" "1" "155263276" "155263276" "subst" "0" "01679" "PKLR_000151" "g.155263276T>G" "" "Van Wijk unpublished" "" "" "HB, DS, NA, {PKLR:408pro}" "Germline" "" "" "0" "" "" "g.155293485T>G" "" "pathogenic" "" "0000471721" "2" "90" "1" "155263275" "155263275" "subst" "0" "01679" "PKLR_000108" "g.155263275G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "SH, NA, {PKLR:408ile}" "Germline" "" "" "0" "" "" "g.155293484G>A" "" "pathogenic (recessive)" "" "0000471722" "1" "90" "1" "155263275" "155263275" "subst" "0" "01679" "PKLR_000108" "g.155263275G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "SH, NA, {PKLR:408ile}" "Germline" "" "" "0" "" "" "g.155293484G>A" "" "pathogenic (recessive)" "" "0000471723" "2" "90" "1" "155263275" "155263275" "subst" "0" "01679" "PKLR_000108" "g.155263275G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "SH, NA, {PKLR:408ile}" "Germline" "" "" "0" "" "" "g.155293484G>A" "" "pathogenic (recessive)" "" "0000471724" "0" "90" "1" "155263275" "155263275" "subst" "0" "01679" "PKLR_000108" "g.155263275G>A" "" "Van Wijk unpublished" "" "" "SH, NA, {PKLR:408ile}" "Germline" "" "" "0" "" "" "g.155293484G>A" "" "pathogenic" "" "0000471725" "2" "90" "1" "155263275" "155263275" "subst" "0" "01679" "PKLR_000108" "g.155263275G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "SH, NA, {PKLR:408ile}" "Germline" "" "" "0" "" "" "g.155293484G>A" "" "pathogenic (recessive)" "" "0000471726" "3" "90" "1" "155263270" "155263270" "subst" "0" "01679" "PKLR_000109" "g.155263270T>C" "" "{PMID:Pissard 2006:16704447}" "" "" "NA, {PKLR:410glu}" "Germline" "" "" "0" "" "" "g.155293479T>C" "" "pathogenic (recessive)" "" "0000471730" "3" "90" "1" "155263267" "155263267" "subst" "0" "01679" "PKLR_000199" "g.155263267C>T" "" "{PMID:Park-Hah 2005:15870493}" "" "" "NA, SH; {PKLR:411ser}" "Germline" "" "" "0" "" "" "g.155293476C>T" "" "pathogenic" "" "0000471731" "2" "90" "1" "155263266" "155263266" "subst" "4.06085E-6" "01679" "PKLR_000092" "g.155263266C>G" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "NA, SH, {PKLR:411ala}" "Germline" "" "" "0" "" "" "g.155293475C>G" "" "pathogenic (recessive)" "" "0000471733" "3" "90" "1" "155263237" "155263237" "subst" "0" "01679" "PKLR_000011" "g.155263237G>T" "" "{PMID:Kanno 1992:1536957}" "" "" "SH, HB {PKLR:421lys}" "Germline" "" "" "0" "" "" "g.155293446G>T" "" "pathogenic (recessive)" "" "0000471734" "1" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "01679" "PKLR_000057" "g.155263229C>T" "" "{PMID:Kanno 1997:9166866}" "" "" "" "Germline" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic (recessive)" "" "0000471735" "1" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "01679" "PKLR_000057" "g.155263229C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "unstable mRNA" "Germline" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic (recessive)" "" "0000471736" "21" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "01679" "PKLR_000057" "g.155263229C>T" "" "{PMID:Raphael 2007:17654506}, {PMID:Van Wijk 2009:19085939}" "" "" "RNA exon 9 skip" "Germline" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic (recessive)" "" "0000471737" "0" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "01679" "PKLR_000057" "g.155263229C>T" "" "{PMID:Ayi 2008:18420493}" "" "" "" "Germline" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic" "" "0000471738" "1" "90" "1" "155261703" "155261703" "subst" "0" "01679" "PKLR_000223" "g.155261703G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471739" "1" "90" "1" "155263229" "155263229" "subst" "0" "01679" "PKLR_000048" "g.155263229C>G" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "no detectable mRNA" "Germline" "" "" "0" "" "" "g.155293438C>G" "" "pathogenic (recessive)" "" "0000471740" "1" "90" "1" "155263224" "155263224" "subst" "0" "01679" "PKLR_000126" "g.155263224C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155293433C>T" "" "pathogenic" "" "0000471741" "2" "90" "1" "155263983" "155263983" "subst" "0.00181926" "01679" "PKLR_000097" "g.155263983C>A" "" "{PMID:Fermo 2005:15953013}, , {PMID:Zanella 2007:17360088}" "" "IVS9+43t/IVS8(+43)t" "unstable mRNA" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471742" "1" "95" "1" "155263185" "155263185" "subst" "0" "01679" "PKLR_000210" "g.155263185G>A" "" "{PMID:Kedar 2009:18759866}" "" "" "" "Germline" "" "" "0" "" "" "g.155293394G>A" "" "VUS" "" "0000471743" "1" "90" "1" "155264150" "155264150" "subst" "4.06293E-6" "01679" "PKLR_000133" "g.155264150T>C" "" "{PMID:Kedar 2009:18759866}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471744" "2" "90" "1" "155263135" "155263135" "subst" "0" "01679" "PKLR_000082" "g.155263135C>G" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "IVS9-1c" "" "Germline" "" "" "0" "" "" "g.155293344C>G" "" "pathogenic (recessive)" "" "0000471745" "3" "90" "1" "155263086" "155263086" "subst" "8.1215E-6" "01679" "PKLR_000198" "g.155263086C>A" "" "{PMID:Sedano 2004:15491302}" "" "" "" "Germline" "" "" "0" "" "" "g.155293295C>A" "" "pathogenic (recessive)" "" "0000471746" "3" "90" "1" "155263001" "155263001" "subst" "0" "01679" "PKLR_000013" "g.155263001G>A" "" "{PMID:Kanno 1994:7949104}" "Fnu4HI-" "" "SH; {PKLR:468val}" "Germline" "" "" "0" "" "" "g.155293210G>A" "" "pathogenic (recessive)" "" "0000471751" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Kanno 1994:8161798}, {OMIM609712:006}" "Fnu4HI-" "" "NF; {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471752" "0" "90" "1" "155263128" "155263128" "subst" "0" "01679" "PKLR_000139" "g.155263128G>A" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "" "SH, HB, {PKLR:426trp}" "Germline" "" "" "0" "" "" "g.155293337G>A" "" "pathogenic" "" "0000471753" "2" "90" "1" "155263128" "155263128" "subst" "0" "01679" "PKLR_000139" "g.155263128G>A" "" "{PMID:Baronciani 1995:7655861}" "" "" "SH, HB, {PKLR:426trp}" "Germline" "" "" "0" "" "" "g.155293337G>A" "" "pathogenic (recessive)" "" "0000471754" "1" "90" "1" "155263128" "155263128" "subst" "0" "01679" "PKLR_000139" "g.155263128G>A" "" "{PMID:Beutler 2000:10828047}" "" "" "SH, HB, {PKLR:426trp}" "Germline" "" "" "0" "" "" "g.155293337G>A" "" "pathogenic (recessive)" "" "0000471755" "0" "90" "1" "155263128" "155263128" "subst" "0" "01679" "PKLR_000139" "g.155263128G>A" "" "{PMID:Branca 2004:15279669}" "" "" "SH, HB, {PKLR:426trp}" "Germline" "" "" "0" "" "" "g.155293337G>A" "" "pathogenic" "" "0000471756" "3" "90" "1" "155263127" "155263127" "subst" "1.21828E-5" "01679" "PKLR_000170" "g.155263127C>T" "" "{PMID:Kanno 1993:8481523}" "" "1722G>A (R426Q)" "HB; {PKLR:426gln}" "Germline" "" "" "0" "" "" "g.155293336C>T" "" "pathogenic (recessive)" "" "0000471757" "1" "90" "1" "155263123" "155263123" "subst" "0" "01679" "PKLR_000174" "g.155263123C>A" "" "{PMID:Lenzner 1997:9057665}" "" "" "SI(A), HB, {PKLR:427asp}" "Germline" "" "" "0" "" "" "g.155293332C>A" "" "pathogenic (recessive)" "" "0000471758" "0" "90" "1" "155263123" "155263123" "subst" "0" "01679" "PKLR_000174" "g.155263123C>A" "1/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "SI(A), HB, {PKLR:427asp}" "Germline" "" "" "0" "" "" "g.155293332C>A" "" "pathogenic" "" "0000471759" "1" "90" "1" "155263113" "155263113" "subst" "3.65482E-5" "01679" "PKLR_000187" "g.155263113C>T" "" "{PMID:Zarza 1998:9827908}" "" "" "DL, SI(A), SH, {PKLR:431thr}" "Germline" "" "" "0" "" "" "g.155293322C>T" "" "pathogenic (recessive)" "" "0000471760" "0" "90" "1" "155263113" "155263113" "subst" "3.65482E-5" "01679" "PKLR_000187" "g.155263113C>T" "6/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "DL, SI(A), SH, {PKLR:431thr}" "Germline" "" "" "0" "" "" "g.155293322C>T" "" "pathogenic" "" "0000471761" "0" "90" "1" "155263105" "155263112" "del" "0" "01679" "PKLR_000202" "g.155263105_155263112del" "" "{PMID:Titapiwatanakun 2008:18726918}" "" "" "" "Germline" "" "" "0" "" "" "g.155293314_155293321del" "" "pathogenic" "" "0000471762" "1" "90" "1" "155263035" "155263035" "subst" "4.06062E-6" "01679" "PKLR_000088" "g.155263035T>C" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "unknown variant 2nd chromosome; SI(C), {PKLR:457val}" "Germline" "" "" "0" "" "" "g.155293244T>C" "" "pathogenic (recessive)" "" "0000471763" "2" "90" "1" "155263031" "155263031" "subst" "1.62425E-5" "01679" "PKLR_000032" "g.155263031C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "SI(C), SH, {PKLR:458asp}" "Germline" "" "" "0" "" "" "g.155293240C>T" "" "pathogenic (recessive)" "" "0000471764" "3" "90" "1" "155263031" "155263031" "subst" "1.62425E-5" "01679" "PKLR_000032" "g.155263031C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "SI(C), SH, {PKLR:458asp}" "Germline" "" "" "0" "" "" "g.155293240C>T" "" "pathogenic (recessive)" "" "0000471765" "1" "90" "1" "155263028" "155263028" "subst" "0" "01679" "PKLR_000157" "g.155263028G>A" "" "{PMID:Baronciani 1995:7655861}" "" "" "unknown variant 2nd chromosome; BH, SH, {PKLR:459val}" "Germline" "" "" "0" "" "" "g.155293237G>A" "" "pathogenic (recessive)" "" "0000471766" "2" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "01679" "PKLR_000029" "g.155263026C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "BH, SH, {PKLR:460met}" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000471767" "3" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "01679" "PKLR_000029" "g.155263026C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "BH, SH, {PKLR:460met}" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000471769" "1" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "01679" "PKLR_000029" "g.155263026C>T" "" "{PMID:Pissard 2006:16704447}, {PMID:Van Wijk 2007:17222205}" "" "Val460Ala" "no variant 2nd chromosome; BH, SH, {PKLR:460met}" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic" "" "0000471770" "1" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "01679" "PKLR_000029" "g.155263026C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "unknown variant 2nd chromosome; BH, SH, {PKLR:460met}" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000471771" "1" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "01679" "PKLR_000029" "g.155263026C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "BH, SH, {PKLR:460met}" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000471772" "0" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "01679" "PKLR_000029" "g.155263026C>T" "" "{PMID:Indo 2001:11668614}" "" "" "BH, SH, {PKLR:460met}" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic" "" "0000471773" "1" "90" "1" "155262995" "155262995" "subst" "0" "01679" "PKLR_000131" "g.155262995G>T" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; BH, SH, {PKLR:470asp}" "Germline" "" "" "0" "" "" "g.155293204G>T" "" "pathogenic" "" "0000471774" "0" "90" "1" "155262969" "155262969" "subst" "5.27966E-5" "01679" "PKLR_000142" "g.155262969G>A" "" "Manco and Ribeiro, 2009b" "" "" "" "Germline" "" "" "0" "" "" "g.155293178G>A" "" "pathogenic" "" "0000471775" "0" "90" "1" "155262969" "155262969" "subst" "5.27966E-5" "01679" "PKLR_000225" "g.155262969G>A" "" "{PMID:Finkenstedt 2008:19120353}" "" "" "" "Germline" "" "" "0" "" "" "g.155293178G>A" "" "pathogenic" "" "0000471776" "0" "90" "1" "155262969" "155262969" "subst" "5.27966E-5" "01679" "PKLR_000142" "g.155262969G>A" "" "{PMID:Finkenstedt 2008:19120353}" "" "" "" "Germline" "" "" "0" "" "" "g.155293178G>A" "" "pathogenic" "" "0000471778" "21" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Van Wijk 2004:15059150}" "" "" "NF: reduced mRNA expression (12/63 clones)" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471779" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "{PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471781" "1" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471783" "1" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "{PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471785" "21" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Pissard 2007:17382129}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471786" "0" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Van Wijk unpublished}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic" "" "0000471787" "1" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Kugler 2000:10679942}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471789" "1" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471794" "0" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Kedar 2007:17952871}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic" "" "0000471795" "0" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Kedar 2007:17952871}" "" "" "{PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic" "" "0000471796" "1" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Kedar 2009:18759866}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471797" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Kedar 2009:18759866}" "" "" "{PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000471798" "0" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Von Löhneysen 2012:22509282}" "" "" "NF, {PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic" "" "0000471799" "0" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMID:Von Löhneysen 2012:22509282}" "" "" "{PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic" "" "0000471802" "0" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "01679" "PKLR_000014" "g.155262968C>T" "" "{PMIDVan Wijk unpublished}" "" "" "{PKLR:479his}" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic" "" "0000471803" "3" "90" "1" "155262967" "155262967" "subst" "0" "01679" "PKLR_000059" "g.155262967C>G" "" "{PMID:Manco 1999:10354117}, {PMID:Manco 2002:12181074}" "" "IVS10+1G>C" "" "Germline" "" "" "0" "" "" "g.155293176C>G" "" "pathogenic (recessive)" "" "0000471805" "3" "90" "1" "155261138" "155262277" "del" "0" "01679" "PKLR_000083" "g.155261138_155262277del" "" "{PMID:Fermo 2005:15953013}{PMID:Zanella 2007:17360088}" "" "ex11 del1149" "" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000471807" "1" "90" "1" "155261138" "155262277" "del" "0" "01679" "PKLR_000022" "g.155261138_155262277del" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "1437-527_1618+440del" "1149 bp deletion" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000471808" "2" "90" "1" "155261138" "155262277" "del" "0" "01679" "PKLR_000022" "g.155261138_155262277del" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "1437-527_1618+440del" "1149 bp deletion" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000471809" "1" "90" "1" "155261138" "155262277" "del" "0" "01679" "PKLR_000022" "g.155261138_155262277del" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "1437-527_1618+440del" "1149 bp deletion" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000471810" "2" "90" "1" "155261138" "155262277" "del" "0" "01679" "PKLR_000022" "g.155261138_155262277del" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "1437-527_1618+440del" "1149 bp deletion" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000471811" "1" "90" "1" "155261138" "155262277" "del" "0" "01679" "PKLR_000022" "g.155261138_155262277del" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "1437-527_1618+440del" "1149 bp deletion" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000471812" "2" "90" "1" "155261138" "155262277" "del" "0" "01679" "PKLR_000022" "g.155261138_155262277del" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "1437-527_1618+440del" "1149 bp deletion" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000471813" "0" "90" "1" "155261546" "155261729" "del" "0" "01679" "PKLR_000316" "g.(155260470_155261546)_(155261729_155262967)del" "" "Fermo 2007" "" "del ex1" "" "Germline" "" "" "0" "" "" "g.(155290679_155291755)_(155291938_155293176)del" "" "pathogenic" "" "0000471815" "0" "11" "1" "0" "0" "" "0" "01679" "PKLR_000041" "g.?" "3/100" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "c.1619-361ATT[17]" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000471816" "3" "90" "1" "155261711" "155261711" "subst" "0" "01679" "PKLR_000017" "g.155261711G>A" "" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471817" "0" "90" "1" "155261711" "155261711" "subst" "0" "01679" "PKLR_000172" "g.155261711G>A" "1/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "SH, {PKLR:485phe}" "Germline" "" "" "0" "" "" "g.155291920G>A" "" "pathogenic" "" "0000471818" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471819" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471820" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471821" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471822" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471823" "3" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH; PK type Milano, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471825" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH; {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471826" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 1997:9160692}" "" "" "no variant 2nd chromosome; DI(A), HB, SH; {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471827" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 1997:9160692}" "" "" "no variant 2nd chromosome; DI(A), HB, SH; {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471828" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH; PK type Milano, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471829" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH; PK type Milano, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471830" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 1999:10354117}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471831" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 1999:10354117}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471832" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 1999:10354117}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471833" "3" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 1999:10354117}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471835" "3" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 1999:10354117}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471837" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 2000:11054094}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471838" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 2000:11054094}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471839" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471840" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471841" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}" "" "" "no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471842" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471843" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471844" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}" "" "" "no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471845" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471846" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471847" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471848" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471849" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471850" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471851" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "1465T" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471852" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471853" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471854" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471855" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "1465T" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471856" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471857" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "Arg486Trp" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471858" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471859" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471860" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471861" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471862" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471863" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471864" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471865" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471866" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471867" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471868" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471869" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471870" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471871" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471872" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471873" "21" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2007:17382129}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471874" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Coutinho et al. 2009:19036089}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471875" "11" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Coutinho et al. 2009:19036089}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471876" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "Van Wijk unpublished" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471877" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "Van Wijk unpublished" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471878" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "Van Wijk unpublished" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471879" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Lenzner 1997:9057665}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471880" "1" "90" "1" "155261711" "155261711" "subst" "0.00309013" "01679" "PKLR_000017" "g.155261711G>A" "" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471881" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471882" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471883" "3" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pastore 1998:9482576}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471885" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471890" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Percy 2007:17574881}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471891" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "8/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471893" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Kedar 2009:18759866}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471894" "3" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471895" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471896" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000471898" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Perseu 2010:20870434}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471899" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Minucci 2011:21821016}" "" "" "DI(A), HB, SH, {PKLR:486trp}" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic" "" "0000471900" "1" "90" "1" "155261708" "155261708" "subst" "0" "01679" "PKLR_000099" "g.155261708C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, SH, {PKLR:486leu}" "Germline" "" "" "0" "" "" "g.155291917C>A" "" "pathogenic (recessive)" "" "0000471901" "1" "90" "1" "155261703" "155261703" "subst" "0" "01679" "PKLR_000223" "g.155261703G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "g.155291912G>A" "" "pathogenic (recessive)" "" "0000471903" "0" "90" "1" "155261697" "155261697" "subst" "0.000130041" "01679" "PKLR_000137" "g.155261697G>A" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "" "HB, SH, DI(N), {PKLR:490trp}" "Germline" "" "" "0" "" "" "g.155291906G>A" "" "pathogenic" "" "0000471904" "0" "90" "1" "155261697" "155261697" "subst" "0.000130041" "01679" "PKLR_000137" "g.155261697G>A" "" "Kanno 1995 Blood 86 (Suppl:133a), {PMID:Baronciani 1996:8807089}" "" "" "HB, SH, DI(N) {PKLR:490trp}" "Germline" "" "" "0" "" "" "g.155291906G>A" "" "pathogenic" "" "0000471905" "0" "90" "1" "155261697" "155261697" "subst" "0.000130041" "01679" "PKLR_000137" "g.155261697G>A" "" "Kanno 1995 Blood 86 (Suppl:133a), {PMID:Baronciani 1996:8807089}" "" "" "HB, SH, DI(N) {PKLR:490trp}" "Germline" "" "" "0" "" "" "g.155291906G>A" "" "pathogenic" "" "0000471906" "2" "90" "1" "155261697" "155261697" "subst" "0.000130041" "01679" "PKLR_000137" "g.155261697G>A" "" "{PMID:Uenaka 1995:7702630}" "" "" "HB, SH, DI(N), {PKLR:490trp}" "Germline" "" "" "0" "" "" "g.155291906G>A" "" "pathogenic (recessive)" "" "0000471908" "0" "90" "1" "155261684" "155261684" "subst" "4.062E-6" "01679" "PKLR_000150" "g.155261684A>G" "" "Van Wijk unpublished" "" "" "BH, HI, LH, {PKLR:494thr}" "Germline" "" "" "0" "" "" "g.155291893A>G" "" "pathogenic" "" "0000471909" "21" "90" "1" "155261682" "155261682" "subst" "0" "01679" "PKLR_000064" "g.155261682C>T" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:495thr}" "Germline" "" "" "0" "" "" "g.155291891C>T" "" "pathogenic (recessive)" "" "0000471911" "1" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471912" "1" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471913" "1" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471914" "1" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471915" "1" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Pissard 2006:16704447}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471917" "0" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "Van Wijk unpublished" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic" "" "0000471919" "2" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Baronciani 1995:7655861}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471920" "1" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Beutler 2000:10828047}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471921" "3" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "01679" "PKLR_000016" "g.155261681G>A" "" "{PMID:Percy 2007:17574881}" "" "" "BH, SH, {PKLR:495val}" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000471922" "3" "90" "1" "155263303" "155263303" "del" "0" "01679" "PKLR_000234" "g.155263303del" "" "{PMID:Rouger 1996:8616073}" "" "delG1232" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000471923" "2" "90" "1" "155261673" "155261673" "subst" "8.12354E-6" "01679" "PKLR_000095" "g.155261673G>A" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "LC, NF, {PKLR:498cys}" "Germline" "" "" "0" "" "" "g.155291882G>A" "" "pathogenic (recessive)" "" "0000471924" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "01679" "PKLR_000053" "g.155264148C>T" "" "{PMID:Pastore 1998:9482576}" "" "" "LC, NF, {PKLR:498cys}" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000471925" "0" "90" "1" "155261673" "155261673" "subst" "8.12354E-6" "01679" "PKLR_000095" "g.155261673G>A" "9/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "LC, NF, {PKLR:498cys}" "Germline" "" "" "0" "" "" "g.155291882G>A" "" "pathogenic" "" "0000471926" "1" "90" "1" "155261673" "155261673" "subst" "8.12354E-6" "01679" "PKLR_000095" "g.155261673G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "LC, NF, {PKLR:498cys}" "Germline" "" "" "0" "" "" "g.155291882G>A" "" "pathogenic (recessive)" "" "0000471928" "2" "90" "1" "155261672" "155261672" "subst" "8.12348E-6" "01679" "PKLR_000030" "g.155261672C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "LC, NF, {PKLR:498his}" "Germline" "" "" "0" "" "" "g.155291881C>T" "" "pathogenic (recessive)" "" "0000471929" "1" "90" "1" "155261672" "155261672" "subst" "8.12348E-6" "01679" "PKLR_000030" "g.155261672C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "LC, NF, {PKLR:498his}" "Germline" "" "" "0" "" "" "g.155291881C>T" "" "pathogenic (recessive)" "" "0000471930" "1" "90" "1" "155261672" "155261672" "subst" "8.12348E-6" "01679" "PKLR_000030" "g.155261672C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "no variant 2nd chromosome; LC, NF, {PKLR:498his}" "Germline" "" "" "0" "" "" "g.155291881C>T" "" "pathogenic" "" "0000471931" "1" "90" "1" "155261672" "155261672" "subst" "8.12348E-6" "01679" "PKLR_000030" "g.155261672C>T" "" "{PMID:Percy 2007:17574881}" "" "" "LC, NF, {PKLR:498his}" "Germline" "" "" "0" "" "" "g.155291881C>T" "" "pathogenic (recessive)" "" "0000471932" "0" "90" "1" "155261672" "155261672" "subst" "8.12348E-6" "01679" "PKLR_000030" "g.155261672C>T" "1/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "LC, NF, {PKLR:498his}" "Germline" "" "" "0" "" "" "g.155291881C>T" "" "pathogenic" "" "0000471933" "2" "90" "1" "155261664" "155261664" "subst" "0" "01679" "PKLR_000159" "g.155261664G>A" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "g.155291873G>A" "" "pathogenic (recessive)" "" "0000471934" "1" "90" "1" "155261657" "155261657" "subst" "4.06111E-6" "01679" "PKLR_000190" "g.155261657G>A" "" "{PMID:Zarza 1999:10374175}" "" "" "DI(A), SH, {PKLR:503val}" "Germline" "" "" "0" "" "" "g.155291866G>A" "" "pathogenic (recessive)" "" "0000471935" "3" "90" "1" "155261654" "155261654" "subst" "0" "01679" "PKLR_000181" "g.155261654C>A" "" "{PMID:Demina 1998:9657767}" "" "" "DI(A), SH, LC, {PKLR:504leu}" "Germline" "" "" "0" "" "" "g.155291863C>A" "" "pathogenic (recessive)" "" "0000471936" "2" "90" "1" "155261647" "155261650" "dup" "0" "01679" "PKLR_000067" "g.155261647_155261650dup" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "1518_1519insGGTC" "" "Germline" "" "" "0" "" "" "g.155291856_155291859dup" "" "pathogenic (recessive)" "" "0000471937" "2" "90" "1" "155261649" "155261649" "subst" "0.0043533" "01679" "PKLR_000008" "g.155261649C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "BH, SH, {PKLR:506ile}" "Germline" "" "" "0" "" "" "g.155291858C>T" "" "pathogenic (recessive)" "" "0000471938" "0" "90" "1" "155261649" "155261649" "subst" "0.0043533" "01679" "PKLR_000008" "g.155261649C>T" "" "{PMID:Wang 2002}" "" "" "BH, SH, {PKLR:506ile}" "Germline" "" "" "0" "" "" "g.155291858C>T" "" "pathogenic" "" "0000471939" "21" "90" "1" "155261649" "155261649" "subst" "0.0043533" "01679" "PKLR_000008" "g.155261649C>T" "" "{PMID:Zarza 2000:10702808}" "" "" "; no variant 2nd chromosome reported; BH, SH; {PKLR:506ile}" "Germline" "" "" "0" "" "" "g.155291858C>T" "" "pathogenic" "" "0000471940" "1" "90" "1" "155261642" "155261642" "subst" "0" "01679" "PKLR_000179" "g.155261642A>C" "" "{PMID:Pastore 1998:9482576}" "" "(L508Z)" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.155291851A>C" "" "pathogenic" "" "0000471941" "21" "90" "1" "155261637" "155261637" "subst" "1.21823E-5" "01679" "PKLR_000185" "g.155261637G>A" "" "{PMID:Demina 1998:9657767}" "" "" "no variant 2nd chromosome; no DNA from patient available" "Germline" "" "" "0" "" "" "g.155291846G>A" "" "pathogenic" "" "0000471942" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471943" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471944" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471945" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471946" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471947" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471948" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471949" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1993:8483951}, {PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471950" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471951" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "no variant 2nd chromosome; DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471952" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471953" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471954" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471955" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471956" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471957" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471958" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471959" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471960" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471961" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471962" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471963" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471964" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471965" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471966" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471967" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB; PK type Aprica, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471969" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB; {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471970" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Zanella 2001:11328279}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471972" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Zanella 2001:11328279}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471974" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2003:12393511}" "StyI" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471975" "11" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2003:12393511}" "StyI" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471976" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Fermo 2005:15953013}, {PMID:Zanella 2007:17360088}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471977" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471979" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471981" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471983" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471985" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471987" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471988" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471989" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471990" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471992" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000471993" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2007:17382129}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471995" "21" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pissard 2007:17382129}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471996" "11" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Raphael 2007:17654506}, {PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471997" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "Durand and Coetzer, 2008" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000471998" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Rouger 1996:8616073}" "" "A1529 (Arg509Gln)" "DI(A), HB {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000471999" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "Van Wijk unpublished" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472000" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "Van Wijk unpublished" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472001" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "Van Wijk unpublished" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472002" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "Van Wijk unpublished" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472004" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "unknown variant 2nd chromosome; DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472006" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472007" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lakomek 1994:7948315}" "" "" "no variant 2nd chromosome; DI(A), HB {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472008" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lakomek 1994:7948315}" "" "" "no variant 2nd chromosome; DI(A), HB {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472009" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472010" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472011" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472012" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472013" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Lenzner 1997:9057665}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472014" "11" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Solinge 1997:9389718}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472015" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Pastore 1998:9482576}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472018" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472019" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Branca 2004:15279669}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472020" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Percy 2007:17574881}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472021" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "11/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472022" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Titapiwatanakun 2008:18726918}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic" "" "0000472023" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472024" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472025" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472026" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472027" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472028" "11" "90" "1" "155261709" "155261709" "subst" "0.00309013" "01679" "PKLR_000018" "g.155261709G>A" "" "{PMID:Pissard 2007:17382129}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000472029" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "01679" "PKLR_000017" "g.155261636C>T" "" "{PMID:Raphael 2007:17654506}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000472031" "2" "90" "1" "155261613" "155261613" "subst" "4.06085E-6" "01679" "PKLR_000051" "g.155261613G>T" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "DI(A);{PKLR:518ser}" "Germline" "" "" "0" "" "" "g.155291822G>T" "" "pathogenic (recessive)" "" "0000472034" "1" "90" "1" "155261591" "155261591" "dup" "0" "01679" "PKLR_000160" "g.155261591dup" "" "{PMID:Baronciani 1995:7655861}" "" "1574Gins" "" "Germline" "" "" "0" "" "" "g.155291800dup" "" "pathogenic (recessive)" "" "0000472035" "1" "90" "1" "155261591" "155261591" "dup" "0" "01679" "PKLR_000160" "g.155261591dup" "" "{PMID:Beutler 2000:10828047}" "" "1574Gins" "" "Germline" "" "" "0" "" "" "g.155291800dup" "" "pathogenic (recessive)" "" "0000472036" "1" "90" "1" "155261571" "155261571" "subst" "8.12196E-6" "01679" "PKLR_000046" "g.155261571G>A" "" "{PMID:Zanella 1997:9160692}, {PMID:Zanella 2007:17360088}" "" "" "NF, LC, SH, {PKLR:532trp}" "Germline" "" "" "0" "" "" "g.155291780G>A" "" "pathogenic (recessive)" "" "0000472041" "0" "90" "1" "155261571" "155261571" "subst" "8.12196E-6" "01679" "PKLR_000046" "g.155261571G>A" "5/148 chromosomes cases" "{PMID:Yavarian 2008:17977029}" "" "" "NF, LC, SH, {PKLR:532trp}" "Germline" "" "" "0" "" "" "g.155291780G>A" "" "pathogenic" "" "0000472042" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "01679" "PKLR_000027" "g.155264517C>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000472043" "0" "90" "1" "155261553" "155261553" "subst" "0" "01679" "PKLR_000241" "g.155261553C>A" "" "Van Wijk unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.155291762C>A" "" "pathogenic" "" "0000472044" "1" "90" "1" "155261551" "155261551" "subst" "0.000410136" "01679" "PKLR_000144" "g.155261551T>A" "" "{PMID:Manco 2009:19309805}" "" "" "" "Germline" "" "" "0" "" "" "g.155291760T>A" "" "pathogenic (recessive)" "" "0000472045" "1" "90" "1" "155261547" "155261547" "subst" "0" "01679" "PKLR_000124" "g.155261547C>G" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; {PKLR:540arg}" "Germline" "" "" "0" "" "" "g.155291756C>G" "" "pathogenic" "" "0000472046" "0" "90" "1" "155261547" "155261547" "del" "0" "01679" "PKLR_000239" "g.155261547del" "" "Van Wijk 2006" "" "" "RNA processing (IIc)" "Germline" "" "" "0" "" "" "g.155291756del" "" "pathogenic" "" "0000472047" "0" "90" "1" "155261547" "155261547" "del" "0" "01679" "PKLR_000239" "g.155261547del" "" "Van Wijk 2006" "" "" "" "Germline" "" "" "0" "" "" "g.155291756del" "" "pathogenic" "" "0000472048" "2" "90" "1" "155261546" "155261546" "subst" "0" "01679" "PKLR_000107" "g.155261546C>G" "" "{PMID:Pissard 2006:16704447}" "" "IVS11+1G>C" "" "Germline" "" "" "0" "" "" "g.155291755C>G" "" "pathogenic (recessive)" "" "0000472049" "11" "90" "1" "155261546" "155261546" "subst" "0" "01679" "PKLR_000107" "g.155261546C>G" "" "{PMID:Pissard 2007:17382129}" "" "" "" "Germline" "" "" "0" "" "" "g.155291755C>G" "" "pathogenic (recessive)" "" "0000472050" "21" "90" "1" "155261546" "155261546" "subst" "0" "01679" "PKLR_000107" "g.155261546C>G" "" "{PMID:Pissard 2007:17382129}" "" "" "" "Germline" "" "" "0" "" "" "g.155291755C>G" "" "pathogenic" "" "0000472051" "3" "90" "1" "155260028" "155261514" "del" "0" "01679" "PKLR_000224" "g.155260028_155261514del" "" "{PMID:Van Wijk 2009:19085939}" "" "1618+37_2064del1477 (p.Lys541fs)" "1477 bp deletion (assuming ATT[14] intron 11) between 11i c.1618+33_36 c.2061_2064" "Germline/De novo (untested)" "" "" "0" "" "" "g.155290237_155291723del" "" "pathogenic (recessive)" "" "0000472052" "0" "11" "1" "155260819" "155260833" "" "0" "01679" "PKLR_000036" "g.155260819_155260833del" "16/100 chromosomes" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155291028_155291042del" "" "benign" "" "0000472053" "0" "11" "1" "155260822" "155260833" "" "0" "01679" "PKLR_000037" "g.155260822_155260833del" "5/100 chromosomes" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155291031_155291042del" "" "benign" "" "0000472054" "0" "11" "1" "155260825" "155260833" "" "0" "01679" "PKLR_000038" "g.155260825_155260833del" "49/100 chromosomes" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155291034_155291042del" "" "benign" "" "0000472055" "0" "11" "1" "155260828" "155260833" "" "0" "01679" "PKLR_000039" "g.155260828_155260833del" "19/100 chromosomes" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155291037_155291042del" "" "benign" "" "0000472056" "0" "11" "1" "155260831" "155260833" "" "0" "01679" "PKLR_000040" "g.155260831_155260833del" "5/100 chromosomes" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155291040_155291042del" "" "benign" "" "0000472057" "0" "11" "1" "155260831" "155260833" "" "0" "01679" "PKLR_000042" "g.155260831_155260833dup" "2/100 chromosomes" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155291040_155291042dup" "" "benign" "" "0000472058" "0" "11" "1" "155260828" "155260833" "" "0" "01679" "PKLR_000043" "g.155260828_155260833dup" "1/100 chromosomes" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155291037_155291042dup" "" "benign" "" "0000472059" "0" "90" "1" "155260472" "155260472" "subst" "0" "01679" "PKLR_000237" "g.155260472G>C" "" "Van Wijk 2006" "" "" "reduced mRNA" "Germline" "" "" "0" "" "" "g.155290681G>C" "" "pathogenic" "" "0000472070" "1" "90" "1" "155260439" "155260439" "subst" "0" "01679" "PKLR_000195" "g.155260439T>A" "" "{PMID:Kugler 2000:10679942}" "" "" "TU, SH, {PKLR:550val}" "Germline" "" "" "0" "" "" "g.155290648T>A" "" "pathogenic (recessive)" "" "0000472071" "0" "90" "1" "155260434" "155260434" "subst" "0" "01679" "PKLR_000147" "g.155260434C>T" "" "Van Wijk 2001" "" "" "BH, SH, {PKLR:552met}" "Germline" "" "" "0" "" "" "g.155290643C>T" "" "pathogenic" "" "0000472072" "1" "90" "1" "155260434" "155260434" "subst" "0" "01679" "PKLR_000147" "g.155260434C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "BH, SH, {PKLR:552met}" "Germline" "" "" "0" "" "" "g.155290643C>T" "" "pathogenic (recessive)" "" "0000472073" "1" "90" "1" "155260434" "155260434" "subst" "0" "01679" "PKLR_000147" "g.155260434C>T" "" "{PMID:Beutler 2000:10828047}" "" "" "BH, SH, {PKLR:552met}" "Germline" "" "" "0" "" "" "g.155290643C>T" "" "pathogenic (recessive)" "" "0000472074" "2" "90" "1" "155260418" "155260418" "subst" "0" "01679" "PKLR_000061" "g.155260418C>G" "" "{PMID:Manco 1999:10354117}" "" "" "NF, SH, {PKLR:557ala}" "Germline" "" "" "0" "" "" "g.155290627C>G" "" "pathogenic (recessive)" "" "0000472075" "1" "90" "1" "155260413" "155260413" "subst" "0" "01679" "PKLR_000127" "g.155260413G>C" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; NF, {PKLR:559gly}" "Germline" "" "" "0" "" "" "g.155290622G>C" "" "pathogenic" "" "0000472076" "3" "90" "1" "155260413" "155260413" "subst" "0" "01679" "PKLR_000127" "g.155260413G>C" "" "{PMID:Baronciani 1995:7655861}" "" "" "NF, {PKLR:559gly}" "Germline" "" "" "0" "" "" "g.155290622G>C" "" "pathogenic (recessive)" "" "0000472077" "2" "90" "1" "155260413" "155260413" "subst" "1.635E-5" "01679" "PKLR_000065" "g.155260413G>A" "" "{PMID:Zanella 2001:11328279}, {PMID:Zanella 2007:17360088}" "" "" "" "Germline" "" "" "0" "" "" "g.155290622G>A" "" "pathogenic (recessive)" "" "0000472078" "2" "90" "1" "155260413" "155260413" "subst" "1.635E-5" "01679" "PKLR_000065" "g.155260413G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "g.155290622G>A" "" "pathogenic (recessive)" "" "0000472079" "0" "90" "1" "155260413" "155260413" "subst" "1.635E-5" "01679" "PKLR_000065" "g.155260413G>A" "" "Van Wijk unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.155290622G>A" "" "pathogenic" "" "0000472080" "0" "90" "1" "155260412" "155260412" "subst" "0" "01679" "PKLR_000154" "g.155260412C>G" "" "Van Wijk unpublished" "" "" "" "Germline" "" "" "0" "" "" "g.155290621C>G" "" "pathogenic" "" "0000472081" "0" "90" "1" "155260390" "155260390" "subst" "0" "01679" "PKLR_000140" "g.155260390G>T" "" "Kanno 1994 Blood 84 (Suppl:13a), {PMID:Baronciani 1996:8807089}" "" "" "SI(C), HB, {PKLR:566lys}" "Germline" "" "" "0" "" "" "g.155290599G>T" "" "pathogenic" "" "0000472082" "3" "90" "1" "155260386" "155260386" "subst" "0" "01679" "PKLR_000118" "g.155260386T>C" "" "{PMID:Pissard 2006:16704447}" "" "" "SI(C), LH, BH, {PKLR:568val}" "Germline" "" "" "0" "" "" "g.155290595T>C" "" "pathogenic (recessive)" "" "0000472084" "3" "10" "1" "155260383" "155260383" "subst" "0.335811" "01679" "PKLR_000010" "g.155260383G>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155290592G>T" "" "benign" "" "0000472086" "2" "10" "1" "155260383" "155260383" "subst" "0.335811" "01679" "PKLR_000010" "g.155260383G>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155290592G>T" "" "benign" "" "0000472087" "1" "10" "1" "155260383" "155260383" "subst" "0.335811" "01679" "PKLR_000010" "g.155260383G>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155290592G>T" "" "benign" "" "0000472088" "2" "10" "1" "155260383" "155260383" "subst" "0.335811" "01679" "PKLR_000010" "g.155260383G>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155290592G>T" "" "benign" "" "0000472089" "1" "10" "1" "155260383" "155260383" "subst" "0.335811" "01679" "PKLR_000010" "g.155260383G>T" "" "{PMID:Baronciani and Beutler, 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155290592G>T" "" "benign" "" "0000472090" "1" "90" "1" "155260382" "155260382" "subst" "0.00102598" "01679" "PKLR_000007" "g.155260382C>T" "" "{PMID:Fermo 2005:15953013}" "" "" "unknown variant 2nd chromosome; SI(C); {PKLR:569gln}" "Germline" "" "" "0" "" "" "g.155290591C>T" "" "pathogenic (recessive)" "" "0000472091" "2" "90" "1" "155260382" "155260382" "subst" "0.00102598" "01679" "PKLR_000007" "g.155260382C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "SI(C), {PKLR:569gln}" "Germline" "" "" "0" "" "" "g.155290591C>T" "" "pathogenic (recessive)" "" "0000472092" "0" "90" "1" "155260382" "155260382" "subst" "0.00102598" "01679" "PKLR_000007" "g.155260382C>T" "" "{PMID:Lyon 2011:21794208}" "" "" "SI(C), {PKLR:569gln}" "Germline" "" "" "0" "" "" "g.155290591C>T" "" "pathogenic" "" "0000472093" "1" "90" "1" "155260382" "155260382" "subst" "0" "01679" "PKLR_000129" "g.155260382C>A" "" "{PMID:Pissard 2006:16704447}" "" "" "no variant 2nd chromosome; SI(C), {PKLR:569leu}" "Germline" "" "" "0" "" "" "g.155290591C>A" "" "pathogenic" "" "0000503567" "0" "10" "1" "155261649" "155261649" "subst" "0.0043533" "02326" "PKLR_000008" "g.155261649C>T" "" "" "" "PKLR(NM_000298.6):c.1516G>A (p.(Val506Ile), p.V506I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155291858C>T" "" "benign" "" "0000503568" "0" "90" "1" "155264297" "155264297" "subst" "4.06395E-6" "02326" "PKLR_000015" "g.155264297A>G" "" "" "" "PKLR(NM_000298.6):c.941T>C (p.I314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155294506A>G" "" "pathogenic" "" "0000503569" "0" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "02326" "PKLR_000027" "g.155264517C>A" "" "" "" "PKLR(NM_000298.6):c.721G>T (p.E241*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155294726C>A" "" "pathogenic" "" "0000503570" "0" "90" "1" "155265241" "155265241" "subst" "0" "02326" "PKLR_000221" "g.155265241C>A" "" "" "" "PKLR(NM_000298.6):c.494G>T (p.G165V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155295450C>A" "" "pathogenic" "" "0000578993" "0" "70" "1" "155271434" "155271434" "del" "0" "01679" "PKLR_000074" "g.155271434del" "" "{PMID:Van Wijk 2003:12393511}" "" "-248delT" "in vitro expression K562 cells shows significant increased promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.155301643del" "" "NA" "" "0000578994" "0" "90" "1" "155271269" "155271269" "subst" "0" "01679" "PKLR_000076" "g.155271269C>G" "" "{PMID:Van Wijk 2003:12393511}" "" "-83G>C" "in vitro expression K562 cells shows significantly reduced promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.155301478C>G" "" "NA" "" "0000604847" "0" "50" "1" "155247568" "155247568" "subst" "0" "02327" "CLK2_000002" "g.155247568C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155277777C>T" "" "VUS" "" "0000604848" "0" "50" "1" "155252462" "155252462" "subst" "0" "02327" "HCN3_000001" "g.155252462C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155282671C>T" "" "VUS" "" "0000604849" "0" "30" "1" "155254428" "155254428" "subst" "1.2186E-5" "02327" "HCN3_000002" "g.155254428C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155284637C>T" "" "likely benign" "" "0000604850" "0" "30" "1" "155255006" "155255006" "subst" "2.43685E-5" "02327" "HCN3_000003" "g.155255006G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155285215G>A" "" "likely benign" "" "0000604851" "0" "50" "1" "155257818" "155257818" "subst" "0.024575" "02327" "HCN3_000004" "g.155257818C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.155288027C>T" "" "VUS" "" "0000647388" "1" "70" "1" "155261709" "155261709" "subst" "0.00309013" "03575" "PKLR_000018" "g.155261709G>A" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous, no homozygous; {DB:CLININrs116100695}" "Germline" "" "rs116100695" "0" "" "" "g.155291918G>A" "" "likely pathogenic" "" "0000687891" "0" "90" "1" "155261636" "155261636" "subst" "0.000353297" "02327" "PKLR_000017" "g.155261636C>T" "" "" "" "PKLR(NM_000298.6):c.1529G>A (p.R510Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687892" "0" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "02327" "PKLR_000023" "g.155265334A>T" "" "" "" "PKLR(NM_000298.6):c.401T>A (p.V134D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687893" "0" "30" "1" "155265446" "155265446" "subst" "0.00011381" "01943" "HCN3_000005" "g.155265446C>G" "" "" "" "PKLR(NM_000298.6):c.375+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687894" "0" "50" "1" "155271095" "155271095" "subst" "0.000393873" "01943" "HCN3_000006" "g.155271095G>A" "" "" "" "PKLR(NM_000298.6):c.92C>T (p.A31V, p.(Ala31Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000711849" "21" "70" "1" "155264364" "155264364" "subst" "0" "03531" "PKLR_000301" "g.155264364T>C" "" "{PMID:Trabelsi 2021:33421605}, {DOI:Trabelsi 2021:10.1016/j.ejmg.2021.104139}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000716879" "0" "50" "1" "155261709" "155261709" "subst" "0.00309013" "01943" "PKLR_000018" "g.155261709G>A" "" "" "" "PKLR(NM_000298.6):c.1456C>T (p.R486W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716880" "0" "50" "1" "155262972" "155262972" "subst" "0" "01943" "HCN3_000007" "g.155262972C>A" "" "" "" "PKLR(NM_000298.6):c.1432G>T (p.G478C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798817" "0" "30" "1" "155270043" "155270043" "subst" "9.34501E-6" "01943" "HCN3_000008" "g.155270043A>G" "" "" "" "PKLR(NM_000298.6):c.129T>C (p.S43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000840042" "3" "70" "1" "155264127" "155264127" "subst" "1.62545E-5" "00006" "PKLR_000004" "g.155264127C>T" "" "{PMID:Rehman 2022:35168679}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155294336C>T" "" "likely pathogenic (recessive)" "" "0000840043" "2" "90" "1" "155265511" "155265511" "subst" "0" "00006" "PKLR_000161" "g.155265511A>G" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840044" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840045" "1" "90" "1" "155270013" "155270030" "del" "0" "00006" "PKLR_000222" "g.155270013_155270030del" "" "{PMID:Van Wijk 2009:19085939}" "" "142_159del18" "" "Germline" "" "" "0" "" "" "g.155300222_155300239del" "" "pathogenic (recessive)" "" "0000840046" "2" "90" "1" "155265241" "155265241" "subst" "0" "00006" "PKLR_000221" "g.155265241C>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840047" "2" "90" "1" "155264082" "155264084" "del" "0" "00006" "PKLR_000167" "g.155264082_155264084del" "" "{PMID:Van Wijk 2009:19085939}" "" "1058_1063delAGA" "" "Germline" "" "" "0" "" "" "g.155294291_155294293del" "" "pathogenic (recessive)" "" "0000840048" "1" "90" "1" "155269903" "155269903" "subst" "0" "00006" "PKLR_000216" "g.155269903A>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840049" "2" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840050" "1" "90" "1" "155263377" "155263377" "subst" "0" "00006" "PKLR_000152" "g.155263377A>G" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840051" "2" "90" "1" "155260382" "155260382" "subst" "0.00102598" "00006" "PKLR_000007" "g.155260382C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840054" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840055" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840056" "2" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840057" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840058" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840059" "1" "90" "1" "155264133" "155264133" "subst" "4.06316E-6" "00006" "PKLR_000114" "g.155264133G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840060" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840061" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840062" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840063" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840064" "2" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840065" "2" "90" "1" "155261673" "155261673" "subst" "8.12354E-6" "00006" "PKLR_000095" "g.155261673G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840084" "1" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840085" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840086" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Wijk 2009:19085939}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840087" "2" "10" "1" "155260831" "155260833" "del" "0" "00006" "PKLR_000302" "g.155260831_155260833del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.155291040_155291042del" "" "benign" "" "0000840106" "3" "90" "1" "155264177" "155264177" "subst" "0" "00006" "PKLR_000303" "g.155264177C>G" "" "{PMID:Jaouani 2017:28133914}" "" "" "" "Germline" "yes" "" "0" "" "" "g.155294386C>G" "" "pathogenic (recessive)" "" "0000840107" "1" "90" "1" "155264177" "155264177" "subst" "0" "00006" "PKLR_000303" "g.155264177C>G" "" "{PMID:Jaouani 2017:28133914}" "" "" "" "Germline" "" "" "0" "" "" "g.155294386C>G" "" "pathogenic (recessive)" "" "0000840108" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Jaouani 2017:28133914}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840109" "21" "90" "1" "155263335" "155263335" "subst" "0" "00006" "PKLR_000304" "g.155263335G>T" "" "{PMID:Jaouani 2017:28133914}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840110" "10" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Jaouani 2017:28133914}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840111" "1" "90" "1" "155264272" "155264272" "subst" "8.12737E-6" "00006" "PKLR_000305" "g.155264272C>T" "" "{PMID:Jaouani 2017:28133914}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840112" "3" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Jaouani 2017:28133914}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840113" "1" "90" "1" "155261628" "155261628" "subst" "0" "00006" "PKLR_000306" "g.155261628A>T" "" "{PMID:Jaouani 2017:28133914}" "" "" "0.50 reduced PK activity; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840276" "1" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "00006" "PKLR_000023" "g.155265334A>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic (recessive)" "" "0000840277" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840278" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840279" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840280" "1" "90" "1" "155263086" "155263086" "subst" "8.1215E-6" "00006" "PKLR_000198" "g.155263086C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293295C>A" "" "pathogenic (recessive)" "" "0000840281" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840282" "1" "90" "1" "155264271" "155264271" "subst" "0" "00006" "PKLR_000339" "g.155264271A>G" "" "{PMID:Bianchi 2020:32043619}" "" "c.965(+2)t>c" "" "Germline" "" "" "0" "" "" "g.155294480A>G" "" "pathogenic (recessive)" "" "0000840283" "1" "90" "1" "155265275" "155265275" "subst" "0" "00006" "PKLR_000217" "g.155265275C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295484C>T" "" "pathogenic (recessive)" "" "0000840284" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840285" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840286" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "00006" "PKLR_000053" "g.155264148C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000840287" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840288" "1" "90" "1" "155263306" "155263306" "del" "0" "00006" "PKLR_000234" "g.155263306del" "" "{PMID:Bianchi 2020:32043619}" "" "c.1195delG" "" "Germline" "" "" "0" "" "" "g.155293515del" "" "pathogenic (recessive)" "" "0000840289" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840290" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840291" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840292" "1" "70" "1" "155271256" "155271256" "subst" "0" "00006" "PKLR_000062" "g.155271256T>G" "" "{PMID:Bianchi 2020:32043619}" "" "c.-70A>C" "" "Germline" "" "" "0" "" "" "g.155301465T>G" "" "likely pathogenic (recessive)" "" "0000840293" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840294" "3" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "00006" "PKLR_000029" "g.155263026C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000840295" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840296" "3" "90" "1" "155265338" "155265338" "subst" "0" "00006" "PKLR_000353" "g.155265338T>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295547T>C" "" "pathogenic (recessive)" "" "0000840297" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840298" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840299" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840300" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840301" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840302" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840303" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840304" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840305" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840306" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840307" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840308" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840309" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840310" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840311" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840312" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840313" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840314" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840315" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840316" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840317" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840318" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840319" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840320" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840321" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840322" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840323" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840324" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840325" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840326" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840327" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840328" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840329" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840330" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840331" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840332" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840333" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840334" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840335" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840336" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840337" "3" "90" "1" "155262968" "155262968" "subst" 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"155264474" "subst" "0" "00006" "PKLR_000344" "g.155264474G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294683G>A" "" "likely pathogenic (recessive)" "" "0000840373" "1" "70" "1" "155264474" "155264474" "subst" "0" "00006" "PKLR_000344" "g.155264474G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294683G>A" "" "likely pathogenic (recessive)" "" "0000840374" "1" "90" "1" "155265490" "155265490" "subst" "1.62468E-5" "00006" "PKLR_000356" "g.155265490A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295699A>G" "" "pathogenic (recessive)" "" "0000840375" "3" "90" "1" "155261546" "155261729" "del" "0" "00006" "PKLR_000315" "g.(?_155261546)_(155261729_155262967)del" "" "{PMID:Bianchi 2020:32043619}" "" "del ex10 and/or ex11" "" "Germline" "" "" "0" "" "" "g.(?_155291755)_(155291938_155293176)del" "" "pathogenic (recessive)" "" "0000840376" "3" "90" "1" "155261546" "155261729" "del" "0" "00006" "PKLR_000316" "g.(155260470_155261546)_(155261729_155262967)del" "" "{PMID:Bianchi 2020:32043619}" "" "del ex10" "" "Germline" "" "" "0" "" "" "g.(155290679_155291755)_(155291938_155293176)del" "" "pathogenic (recessive)" "" "0000840377" "1" "90" "1" "155265455" "155265455" "subst" "0" "00006" "PKLR_000354" "g.155265455C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295664C>T" "" "pathogenic (recessive)" "" "0000840378" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840379" "1" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "00006" "PKLR_000053" "g.155264148C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000840380" "1" "90" "1" "155261670" "155261670" "subst" "0" "00006" "PKLR_000326" "g.155261670A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291879A>G" "" "pathogenic (recessive)" "" "0000840381" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840382" "3" "90" "1" "155265524" "155265524" "del" "4.0622E-6" "00006" "PKLR_000028" "g.155265524del" "" "{PMID:Bianchi 2020:32043619}" "" "c.307delC" "" "Germline" "" "" "0" "" "" "g.155295733del" "" "pathogenic (recessive)" "" "0000840383" "1" "70" "1" "155270675" "155270744" "del" "0" "00006" "PKLR_000361" "g.(155270072_155270675)_(155270744_155271086)del" "" "{PMID:Bianchi 2020:32043619}" "" "del ex2" "" "Germline" "" "" "0" "" "" "g.(155300281_155300884)_(155300953_155301295)del" "" "likely pathogenic (recessive)" "" "0000840384" "1" "90" "1" "155264451" "155264451" "subst" "0" "00006" "PKLR_000343" "g.155264451C>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294660C>G" "" "pathogenic (recessive)" "" "0000840385" "3" "90" "1" "155265268" "155265268" "subst" "0" "00006" "PKLR_000349" "g.155265268T>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295477T>C" "" "pathogenic (recessive)" "" "0000840386" "3" "90" "1" "155265268" "155265268" "subst" "0" "00006" "PKLR_000349" "g.155265268T>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295477T>C" "" "pathogenic (recessive)" "" "0000840387" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840388" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840389" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840390" "3" "90" "1" "155264185" "155264185" "subst" "4.06174E-6" "00006" "PKLR_000338" "g.155264185T>C" "" "{PMID:Bianchi 2020:32043619}" "" "c.966(-9)a>g" "" "Germline" "" "" "0" "" "" "g.155294394T>C" "" "pathogenic (recessive)" "" "0000840391" "1" "90" "1" "155264397" "155264397" "subst" "0" "00006" "PKLR_000138" "g.155264397C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294606C>T" "" "pathogenic (recessive)" "" "0000840392" "3" "90" "1" "155265325" "155265325" "subst" "8.25198E-6" "00006" "PKLR_000352" "g.155265325G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295534G>A" "" "pathogenic (recessive)" "" "0000840393" "1" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "00006" "PKLR_000023" "g.155265334A>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic (recessive)" "" "0000840394" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840395" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840396" "1" "90" "1" "155264415" "155264415" "subst" "4.07222E-6" "00006" "PKLR_000052" "g.155264415C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294624C>T" "" "pathogenic (recessive)" "" "0000840397" "1" "90" "1" "155265275" "155265275" "subst" "0" "00006" "PKLR_000217" "g.155265275C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295484C>T" "" "pathogenic (recessive)" "" "0000840398" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840399" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840400" "3" "90" "1" "155265275" "155265275" "subst" "0" "00006" "PKLR_000217" "g.155265275C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295484C>T" "" "pathogenic (recessive)" "" "0000840401" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840402" "1" 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"90" "1" "155271435" "155271435" "del" "0" "00006" "PKLR_000062" "g.155271435del" "" "{PMID:Bianchi 2020:32043619}" "" "c.-249delA" "" "Germline" "" "" "0" "" "" "g.155301644del" "" "pathogenic (recessive)" "" "0000840468" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840469" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840470" "1" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "00006" "PKLR_000102" "g.155264051C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic (recessive)" "" "0000840471" "3" "90" "1" "155262974" "155267979" "del" "0" "00006" "PKLR_000084" "g.155262974_155267979del" "" "{PMID:Bianchi 2020:32043619}" "" "c.283+1914_c.1434del5006" "" "Germline" "" "" "0" "" "" "g.155293183_155298188del" "" "pathogenic (recessive)" "" "0000840472" "1" "90" "1" "155261661" "155261661" "subst" "0" "00006" "PKLR_000324" "g.155261661C>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291870C>G" "" "pathogenic (recessive)" "" "0000840473" "1" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "00006" "PKLR_000102" "g.155264051C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic (recessive)" "" "0000840474" "3" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840475" "3" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "00006" "PKLR_000057" "g.155263229C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic (recessive)" "" "0000840476" "3" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "00006" "PKLR_000057" "g.155263229C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic (recessive)" "" "0000840477" "3" "90" "1" "155261591" "155261591" "subst" "0" "00006" "PKLR_000318" "g.155261591C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291800C>T" "" "pathogenic (recessive)" "" "0000840478" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840479" "3" "90" "1" "155263319" "155263319" "subst" "4.06114E-6" "00006" "PKLR_000031" "g.155263319A>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293528A>T" "" "pathogenic (recessive)" "" "0000840480" "1" "90" "1" "155271435" "155271435" "del" "0" "00006" "PKLR_000062" "g.155271435del" "" "{PMID:Bianchi 2020:32043619}" "" "c.-249delA" "" "Germline" "" "" "0" "" "" "g.155301644del" "" "pathogenic (recessive)" "" "0000840481" "1" "90" "1" "155263049" "155263054" "dup" "0" "00006" "PKLR_000329" "g.155263049_155263054dup" "" "{PMID:Bianchi 2020:32043619}" "" "c1351_1356dupCCCACT" "" "Germline" "" "" "0" "" "" "g.155293258_155293263dup" "" "pathogenic (recessive)" "" "0000840482" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840483" "1" "90" "1" "155263279" "155263279" "subst" "0" "00006" "PKLR_000121" "g.155263279C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293488C>T" "" "pathogenic (recessive)" "" "0000840484" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840485" "3" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840486" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840487" "1" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "00006" "PKLR_000102" "g.155264051C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic (recessive)" "" "0000840488" "1" "90" "1" "155264415" "155264415" "del" "0" "00006" "PKLR_000200" "g.155264415del" "" "{PMID:Bianchi 2020:32043619}" "" "c.826delG" "" "Germline" "" "" "0" "" "" "g.155294624del" "" "pathogenic (recessive)" "" "0000840489" "1" "90" "1" "155264415" "155264415" "del" "0" "00006" "PKLR_000200" "g.155264415del" "" "{PMID:Bianchi 2020:32043619}" "" "c.826delG" "" "Germline" "" "" "0" "" "" "g.155294624del" "" "pathogenic (recessive)" "" "0000840490" "1" "90" "1" "155265259" "155265259" "subst" "0" "00006" "PKLR_000183" "g.155265259C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295468C>A" "" "pathogenic (recessive)" "" "0000840491" "1" "90" "1" "155265259" "155265259" "subst" "0" "00006" "PKLR_000183" "g.155265259C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295468C>A" "" "pathogenic (recessive)" "" "0000840492" "1" "90" "1" "155265524" "155265524" "del" "4.0622E-6" "00006" "PKLR_000028" "g.155265524del" "" "{PMID:Bianchi 2020:32043619}" "" "c.307delC" "" "Germline" "" "" "0" "" "" "g.155295733del" "" "pathogenic (recessive)" "" "0000840493" "3" "90" "1" "155261138" "155262277" "del" "0" "00006" "PKLR_000022" "g.155261138_155262277del" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291347_155292486del" "" "pathogenic (recessive)" "" "0000840494" "1" "90" "1" "155263377" "155263377" "subst" "0" "00006" "PKLR_000152" "g.155263377A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293586A>G" "" "pathogenic (recessive)" "" "0000840495" "1" "90" "1" "155269889" "155269889" "subst" "1.22038E-5" "00006" "PKLR_000148" "g.155269889C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155300098C>T" "" "pathogenic (recessive)" "" "0000840496" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840497" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840498" "1" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840499" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840500" "1" "90" "1" "155262968" "155262968" "subst" "5.27975E-5" "00006" "PKLR_000014" "g.155262968C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293177C>T" "" "pathogenic (recessive)" "" "0000840501" "1" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295709C>T" "" "pathogenic (recessive)" "" "0000840502" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840503" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840504" "1" "90" "1" "155263377" "155263377" "subst" "0" "00006" "PKLR_000152" "g.155263377A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293586A>G" "" "pathogenic (recessive)" "" "0000840505" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840506" "1" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295709C>T" "" "pathogenic (recessive)" "" "0000840507" "3" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295709C>T" "" "pathogenic (recessive)" "" "0000840508" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840509" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840510" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840511" "1" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295709C>T" "" "pathogenic (recessive)" "" "0000840512" "3" "90" "1" "155264067" "155264067" "subst" "2.84262E-5" "00006" "PKLR_000055" "g.155264067G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294276G>A" "" "pathogenic (recessive)" "" "0000840513" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "pathogenic (recessive)" "" "0000840514" "1" "90" "1" "155263229" "155263229" "subst" "8.1217E-6" "00006" "PKLR_000057" "g.155263229C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293438C>T" "" "pathogenic (recessive)" "" "0000840515" "1" "90" "1" "155265241" "155265241" "subst" "0" "00006" "PKLR_000221" "g.155265241C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295450C>A" "" "pathogenic (recessive)" "" "0000840516" "1" "90" "1" "155265334" "155265334" "subst" "4.10418E-6" "00006" "PKLR_000023" "g.155265334A>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295543A>T" "" "pathogenic (recessive)" "" "0000840517" "1" "90" "1" "155265241" "155265241" "subst" "0" "00006" "PKLR_000221" "g.155265241C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295450C>A" "" "pathogenic (recessive)" "" "0000840518" "1" "90" "1" "155265241" "155265241" "subst" "0" "00006" "PKLR_000221" "g.155265241C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295450C>A" "" "pathogenic (recessive)" "" "0000840519" "1" "90" "1" "155263086" "155263086" "subst" "8.1215E-6" "00006" "PKLR_000198" "g.155263086C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293295C>A" "" "pathogenic (recessive)" "" "0000840520" "1" "90" "1" "155265346" "155265346" "subst" "0" "00006" "PKLR_000189" "g.155265346G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295555G>T" "" "pathogenic (recessive)" "" "0000840521" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840522" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840523" "3" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840524" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840525" "3" "90" "1" "155265478" "155265478" "subst" "0" "00006" "PKLR_000355" "g.155265478T>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295687T>C" "" "pathogenic (recessive)" "" "0000840526" "1" "70" "1" "155269978" "155269978" "subst" "1.21978E-5" "00006" "PKLR_000357" "g.155269978A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155300187A>G" "" "likely pathogenic (recessive)" "" "0000840527" "1" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295709C>T" "" "pathogenic (recessive)" "" "0000840528" "1" "90" "1" "155265271" "155265271" "subst" "0" "00006" "PKLR_000021" "g.155265271A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295480A>G" "" "pathogenic (recessive)" "" "0000840529" "1" "70" "1" "155271269" "155271269" "subst" "0" "00006" "PKLR_000076" "g.155271269C>G" "" "{PMID:Bianchi 2020:32043619}" "" "c.-83G>C" "" "Germline" "" "" "0" "" "" "g.155301478C>G" "" "likely pathogenic (recessive)" "" "0000840530" "3" "90" "1" "155259084" "155260470" "del" "0" "00006" "PKLR_000311" "g.(?_155259084)_(155260470_155261546)del" "" "{PMID:Bianchi 2020:32043619}" "" "del ex11" "" "Germline" "" "" "0" "" "" "g.(?_155289293)_(155290679_155291755)del" "" "pathogenic (recessive)" "" "0000840531" "3" "90" "1" "155259084" "155260470" "del" "0" "00006" "PKLR_000311" "g.(?_155259084)_(155260470_155261546)del" "" "{PMID:Bianchi 2020:32043619}" "" "del ex11" "" "Germline" "" "" "0" "" "" "g.(?_155289293)_(155290679_155291755)del" "" "pathogenic (recessive)" "" "0000840532" "3" "90" "1" "155261546" "155261729" "del" "0" "00006" "PKLR_000316" "g.(155260470_155261546)_(155261729_155262967)del" "" "{PMID:Bianchi 2020:32043619}" "" "del ex10 c.1470?_1651?" "" "Germline" "" "" "0" "" "" "g.(155290679_155291755)_(155291938_155293176)del" "" "pathogenic (recessive)" "" "0000840533" "2" "90" "1" "155261678" "155261678" "subst" "0" "00006" "PKLR_000327" "g.155261678A>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291887A>C" "" "pathogenic (recessive)" "" "0000840534" "2" "90" "1" "155263105" "155263105" "subst" "0" "00006" "PKLR_000330" "g.155263105G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293314G>T" "" "pathogenic (recessive)" "" "0000840535" "2" "90" "1" "155261634" "155261634" "subst" "0" "00006" "PKLR_000321" "g.155261634C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291843C>T" "" "pathogenic (recessive)" "" "0000840536" "2" "90" "1" "155264397" "155264397" "subst" "0" "00006" "PKLR_000138" "g.155264397C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294606C>T" "" "pathogenic (recessive)" "" "0000840537" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840538" "2" "90" "1" "155263342" "155263342" "subst" "0" "00006" "PKLR_000268" "g.155263342C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293551C>T" "" "pathogenic (recessive)" "" "0000840539" "2" "90" "1" "155264434" "155264434" "subst" "0" "00006" "PKLR_000281" "g.155264434G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294643G>T" "" "pathogenic (recessive)" "" "0000840540" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840541" "2" "90" "1" "155263377" "155263377" "subst" "0" "00006" "PKLR_000152" "g.155263377A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293586A>G" "" "pathogenic (recessive)" "" "0000840542" "2" "90" "1" "155265278" "155265278" "subst" "0" "00006" "PKLR_000350" "g.155265278T>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295487T>A" "" "pathogenic (recessive)" "" "0000840543" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840544" "2" "90" "1" "155264415" "155264415" "del" "0" "00006" "PKLR_000200" "g.155264415del" "" "{PMID:Bianchi 2020:32043619}" "" "c.826delG" "" "Germline" "" "" "0" "" "" "g.155294624del" "" "pathogenic (recessive)" "" "0000840545" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" 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"1.635E-5" "00006" "PKLR_000065" "g.155260413G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155290622G>A" "" "pathogenic (recessive)" "" "0000840551" "2" "90" "1" "155261613" "155261613" "subst" "4.06085E-6" "00006" "PKLR_000051" "g.155261613G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291822G>T" "" "pathogenic (recessive)" "" "0000840552" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840553" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840554" "2" "90" "1" "155261613" "155261613" "subst" "4.06085E-6" "00006" "PKLR_000051" "g.155261613G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291822G>T" "" "pathogenic (recessive)" "" "0000840555" "2" "90" "1" "155264940" "155264940" "subst" "0" "00006" "PKLR_000086" "g.155264940C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295149C>T" "" "pathogenic (recessive)" "" "0000840556" "2" "90" "1" "155263266" "155263266" "subst" "4.06085E-6" "00006" "PKLR_000092" "g.155263266C>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293475C>G" "" "pathogenic (recessive)" "" "0000840557" "2" "90" "1" "155260413" "155260413" "subst" "1.635E-5" "00006" "PKLR_000065" "g.155260413G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155290622G>A" "" "pathogenic (recessive)" "" "0000840558" "2" "90" "1" "155261652" "155261652" "subst" "0" "00006" "PKLR_000322" "g.155261652G>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291861G>C" "" "pathogenic (recessive)" "" "0000840559" "2" "90" "1" "155261652" "155261652" "subst" "0" "00006" "PKLR_000322" "g.155261652G>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291861G>C" "" "pathogenic (recessive)" "" "0000840560" "2" "90" "1" "155269927" "155269927" "subst" "0" "00006" "PKLR_000226" "g.155269927G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155300136G>T" "" "pathogenic (recessive)" "" "0000840561" "2" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "00006" "PKLR_000053" "g.155264148C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294357C>T" "" "pathogenic (recessive)" "" "0000840562" "2" "90" "1" "155264127" "155264127" "subst" "1.62545E-5" "00006" "PKLR_000335" "g.155264127C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294336C>A" "" "pathogenic (recessive)" "" "0000840563" "2" "90" "1" "155263317" "155263317" "subst" "0" "00006" "PKLR_000070" "g.155263317G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293526G>A" "" "pathogenic (recessive)" "" "0000840564" "2" "90" "1" "155261647" "155261650" "dup" "0" "00006" "PKLR_000067" "g.155261647_155261650dup" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291856_155291859dup" "" "pathogenic (recessive)" "" "0000840565" "2" "90" "1" "155261682" "155261682" "subst" "0" "00006" "PKLR_000064" "g.155261682C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291891C>T" "" "pathogenic (recessive)" "" "0000840566" "2" "70" "1" "155264476" "155264476" "subst" "0" "00006" "PKLR_000345" "g.155264476C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294685C>A" "" "likely pathogenic (recessive)" "" "0000840567" "2" "90" "1" "155261545" "155261545" "subst" "0" "00006" "PKLR_000314" "g.155261545A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291754A>G" "" "pathogenic (recessive)" "" "0000840568" "2" "90" "1" "155264282" "155264282" "subst" "0" "00006" "PKLR_000340" "g.155264282C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294491C>A" "" "pathogenic (recessive)" "" "0000840569" "2" "90" "1" "155260434" "155260434" "subst" "0" "00006" "PKLR_000313" "g.155260434C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155290643C>A" "" "pathogenic (recessive)" "" "0000840570" "2" "90" "1" "155260434" "155260434" "subst" "0" "00006" "PKLR_000313" "g.155260434C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155290643C>A" "" "pathogenic (recessive)" "" "0000840571" "2" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "00006" "PKLR_000029" "g.155263026C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000840572" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840573" "2" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "00006" "PKLR_000016" "g.155261681G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291890G>A" "" "pathogenic (recessive)" "" "0000840574" "2" "90" "1" "155263016" "155263016" "subst" "0" "00006" "PKLR_000328" "g.155263016G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293225G>A" "" "pathogenic (recessive)" "" "0000840575" "2" "90" "1" "155260413" "155260413" "subst" "0" "00006" "PKLR_000127" "g.155260413G>C" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155290622G>C" "" "pathogenic (recessive)" "" "0000840576" "2" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "00006" "PKLR_000102" "g.155264051C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294260C>T" "" "pathogenic (recessive)" "" "0000840577" "2" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "00006" "PKLR_000029" "g.155263026C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000840578" "2" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "00006" "PKLR_000029" "g.155263026C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000840579" "2" "90" "1" "155264936" "155264936" "subst" "0" "00006" "PKLR_000346" "g.155264936C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295145C>T" "" "pathogenic (recessive)" "" "0000840580" "2" "90" "1" "155264936" "155264936" "subst" "0" "00006" "PKLR_000346" "g.155264936C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295145C>T" "" "pathogenic (recessive)" "" "0000840581" "2" "90" "1" "155270053" "155270053" "del" "0" "00006" "PKLR_000360" "g.155270053del" "" "{PMID:Bianchi 2020:32043619}" "" "c.119delG" "" "Germline" "" "" "0" "" "" "g.155300262del" "" "pathogenic (recessive)" "" "0000840582" "2" "90" "1" "155265361" "155265361" "subst" "0" "00006" "PKLR_000238" "g.155265361T>G" "" "{PMID:Bianchi 2020:32043619}" "" "c.376(-2)a>c" "" "Germline" "" "" "0" "" "" "g.155295570T>G" "" "pathogenic (recessive)" "" "0000840583" "2" "90" "1" "155261571" "155261571" "subst" "8.12196E-6" "00006" "PKLR_000046" "g.155261571G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291780G>A" "" "pathogenic (recessive)" "" "0000840584" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840585" "2" "70" "1" "155264165" "155264165" "subst" "0" "00006" "PKLR_000337" "g.155264165A>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294374A>T" "" "likely pathogenic (recessive)" "" "0000840586" "2" "90" "1" "155263324" "155263324" "subst" "4.06141E-6" "00006" "PKLR_000166" "g.155263324C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293533C>T" "" "pathogenic (recessive)" "" "0000840587" "2" "90" "1" "155261670" "155261670" "subst" "0" "00006" "PKLR_000326" "g.155261670A>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291879A>G" "" "pathogenic (recessive)" "" "0000840588" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840589" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840590" "2" "90" "1" "155263026" "155263026" "subst" "2.84241E-5" "00006" "PKLR_000029" "g.155263026C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293235C>T" "" "pathogenic (recessive)" "" "0000840591" "2" "90" "1" "155264053" "155264053" "dup" "0" "00006" "PKLR_000025" "g.155264053dup" "" "{PMID:Bianchi 2020:32043619}" "" "c.1089_1091insG" "" "Germline" "" "" "0" "" "" "g.155294262dup" "" "pathogenic (recessive)" "" "0000840592" "2" "90" "1" "155264053" "155264053" "dup" "0" "00006" "PKLR_000025" "g.155264053dup" "" "{PMID:Bianchi 2020:32043619}" "" "c.1089_1091insG" "" "Germline" "" "" "0" "" "" "g.155294262dup" "" "pathogenic (recessive)" "" "0000840593" "2" "90" "1" "155261591" "155261591" "dup" "0" "00006" "PKLR_000160" "g.155261591dup" "" "{PMID:Bianchi 2020:32043619}" "" "c.1574_1576insG" "" "Germline" "" "" "0" "" "" "g.155291800dup" "" "pathogenic (recessive)" "" "0000840594" "2" "90" "1" "155261571" "155261571" "subst" "8.12196E-6" "00006" "PKLR_000046" "g.155261571G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291780G>A" "" "pathogenic (recessive)" "" "0000840595" "2" "70" "1" "155261565" "155261565" "subst" "0" "00006" "PKLR_000317" "g.155261565G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291774G>T" "" "likely pathogenic (recessive)" "" "0000840596" "2" "70" "1" "155261565" "155261565" "subst" "0" "00006" "PKLR_000317" "g.155261565G>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291774G>T" "" "likely pathogenic (recessive)" "" "0000840597" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840598" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" 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"1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294726C>A" "" "pathogenic (recessive)" "" "0000840661" "2" "90" "1" "155261703" "155261703" "subst" "0" "00006" "PKLR_000223" "g.155261703G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291912G>A" "" "pathogenic (recessive)" "" "0000840662" "2" "90" "1" "155263344" "155263344" "subst" "0" "00006" "PKLR_000110" "g.155263344C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155293553C>T" "" "pathogenic (recessive)" "" "0000840663" "2" "90" "1" "155264309" "155264309" "subst" "0" "00006" "PKLR_000215" "g.155264309A>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294518A>T" "" "pathogenic (recessive)" "" "0000840664" "2" "90" "1" "155265500" "155265500" "subst" "0" "00006" "PKLR_000220" "g.155265500C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155295709C>T" "" "pathogenic (recessive)" "" "0000840665" "2" "90" "1" "155260434" "155260434" "subst" "0" "00006" "PKLR_000147" "g.155260434C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155290643C>T" "" "pathogenic (recessive)" "" "0000840666" "2" "90" "1" "155270013" "155270030" "del" "0" "00006" "PKLR_000222" "g.155270013_155270030del" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155300222_155300239del" "" "pathogenic (recessive)" "" "0000840667" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840668" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840669" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840670" "2" "90" "1" "155261633" "155261633" "subst" "0" "00006" "PKLR_000153" "g.155261633C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291842C>T" "" "pathogenic (recessive)" "" "0000840671" "2" "90" "1" "155264066" "155264066" "subst" "0" "00006" "PKLR_000334" "g.155264066C>G" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155294275C>G" "" "pathogenic (recessive)" "" "0000840672" "2" "90" "1" "155261655" "155261655" "subst" "0" "00006" "PKLR_000323" "g.155261655G>A" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291864G>A" "" "pathogenic (recessive)" "" "0000840673" "2" "90" "1" "155261592" "155261592" "del" "0" "00006" "PKLR_000309" "g.155261592del" "" "{PMID:Bianchi 2020:32043619}" "" "c.1573delT" "" "Germline" "" "" "0" "" "" "g.155291801del" "" "pathogenic (recessive)" "" "0000840674" "2" "90" "1" "155264323" "155264330" "del" "0" "00006" "PKLR_000341" "g.155264323_155264330del" "" "{PMID:Bianchi 2020:32043619}" "" "c.909_916delGGAAGGAC" "" "Germline" "" "" "0" "" "" "g.155294532_155294539del" "" "pathogenic (recessive)" "" "0000840675" "2" "70" "1" "155269985" "155269985" "subst" "4.06997E-6" "00006" "PKLR_000358" "g.155269985C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155300194C>T" "" "likely pathogenic (recessive)" "" "0000840676" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840677" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Bianchi 2020:32043619}" "" "" "" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840680" "0" "10" "1" "155260783" "155260833" "=" "0" "00006" "PKLR_000308" "g.155260783_155260833=" "" "{PMID:Baronciani and Beutler 1995:7706479}" "" "" "" "Germline" "" "" "0" "" "" "g.155290992_155291042=" "" "benign" "" "0000840681" "2" "90" "1" "155261681" "155261681" "subst" "4.87492E-5" "00006" "PKLR_000016" "g.155261681G>A" "" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840682" "2" "90" "1" "155265343" "155265345" "del" "0" "00006" "PKLR_000026" "g.155265343_155265345del" "" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840683" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}, {PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840684" "2" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840685" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840686" "2" "90" "1" "155264415" "155264415" "del" "0" "00006" "PKLR_000200" "g.155264415del" "" "{PMID:Percy 2007:17574881}" "" "826delG" "variant after nonsense variant so no effect on protein" "Germline" "" "" "0" "" "" "" "" "pathogenic (!)" "" "0000840687" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Percy 2007:17574881}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840714" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840715" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840716" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840717" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840718" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840719" "2" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840720" "1" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Baronciani 1995:7655861}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840740" "21" "90" "1" "155261592" "155261592" "del" "0" "00006" "PKLR_000309" "g.155261592del" "" "{PMID:Yaish 2014:24969675}" "" "1573delT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840741" "11" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Yaish 2014:24969675}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840742" "1" "90" "1" "155261547" "155261547" "del" "0" "00006" "PKLR_000239" "g.155261547del" "" "{PMID:De Vooght 2002:12382367}" "" "IVS11+1delG" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840743" "3" "90" "1" "155263365" "155263375" "dup" "0" "00006" "PKLR_000310" "g.155263365_155263375dup" "" "{PMID:Diez 2005:15870173}" "" "dupGAGAGCATGAT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840744" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Marcello 2008:18708292}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840745" "0" "10" "1" "155271510" "155271510" "subst" "0" "00006" "PKLR_000062" "g.155271510A>T" "" "{PMID:Van Wijk 2003:12393511}" "" "-324T>A" "in vitro expression K562 cells shows normal promoter activity" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000840746" "0" "10" "1" "155271277" "155271277" "subst" "0" "00006" "PKLR_000062" "g.155271277A>T" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-91T>A" "in vitro expression K562 cells shows normal promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.155301486A>T" "" "NA" "" "0000840747" "0" "10" "1" "155271276" "155271276" "subst" "0" "00006" "PKLR_000062" "g.155271276G>A" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-90C>T" "in vitro expression K562 cells shows normal promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.155301485G>A" "" "NA" "" "0000840748" "0" "70" "1" "155271275" "155271275" "subst" "0" "00006" "PKLR_000062" "g.155271275A>C" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-89T>G" "in vitro expression K562 cells shows increased promoter activity (1.3)" "In vitro (cloned)" "" "" "0" "" "" "g.155301484A>C" "" "NA" "" "0000840749" "0" "70" "1" "155271274" "155271274" "subst" "0" "00006" "PKLR_000062" "g.155271274A>C" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-88T>G" "in vitro expression K562 cells shows increased promoter activity (1.5)" "In vitro (cloned)" "" "" "0" "" "" "g.155301483A>C" "" "NA" "" "0000840750" "0" "70" "1" "155271273" "155271273" "subst" "0" "00006" "PKLR_000062" "g.155271273G>T" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-87C>A" "in vitro expression K562 cells shows significantly reduced promoter activity (0.5)" "In vitro (cloned)" "" "" "0" "" "" "g.155301482G>T" "" "NA" "" "0000840751" "0" "90" "1" "155271272" "155271272" "subst" "0" "00006" "PKLR_000062" "g.155271272A>C" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-86T>G" "in vitro expression K562 cells shows significantly reduced promoter activity (0.3)" "In vitro (cloned)" "" "" "0" "" "" "g.155301481A>C" "" "NA" "" "0000840752" "0" "90" "1" "155271271" "155271271" "subst" "0" "00006" "PKLR_000062" "g.155271271G>T" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-85C>A" "in vitro expression K562 cells shows significantly reduced promoter activity (0.3)" "In vitro (cloned)" "" "" "0" "" "" "g.155301480G>T" "" "NA" "" "0000840753" "0" "90" "1" "155271270" "155271270" "subst" "0" "00006" "PKLR_000062" "g.155271270A>C" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-84T>G" "in vitro expression K562 cells shows significantly reduced promoter activity (0.1)" "In vitro (cloned)" "" "" "0" "" "" "g.155301479A>C" "" "NA" "" "0000840754" "0" "10" "1" "155271268" "155271268" "subst" "0" "00006" "PKLR_000062" "g.155271268A>C" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-82T>G" "in vitro expression K562 cells shows normal promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.155301477A>C" "" "NA" "" "0000840755" "0" "70" "1" "155271267" "155271267" "subst" "0" "00006" "PKLR_000062" "g.155271267G>T" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-81C>A" "in vitro expression K562 cells shows reduced promoter activity (0.8)" "In vitro (cloned)" "" "" "0" "" "" "g.155301476G>T" "" "NA" "" "0000840756" "0" "70" "1" "155271266" "155271266" "subst" "0" "00006" "PKLR_000062" "g.155271266A>C" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-80T>G" "in vitro expression K562 cells shows increased promoter activity (1.3)" "In vitro (cloned)" "" "" "0" "" "" "g.155301475A>C" "" "NA" "" "0000840757" "0" "70" "1" "155271265" "155271265" "subst" "0" "00006" "PKLR_000062" "g.155271265G>A" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-79C>T" "in vitro expression K562 cells shows reduced promoter activity (0.7)" "In vitro (cloned)" "" "" "0" "" "" "g.155301474G>A" "" "NA" "" "0000840758" "0" "10" "1" "155271264" "155271264" "subst" "0" "00006" "PKLR_000062" "g.155271264G>A" "" "{PMID:Van Wijk 2003:12393511}" "" "c.-78C>T" "in vitro expression K562 cells shows normal promoter activity" "In vitro (cloned)" "" "" "0" "" "" "g.155301473G>A" "" "NA" "" "0000840759" "2" "90" "1" "155262969" "155262969" "subst" "5.27966E-5" "00006" "PKLR_000142" "g.155262969G>A" "" "{PMID:Manco 2009:19309787}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840760" "2" "90" "1" "155270043" "155270064" "del" "0" "00006" "PKLR_000233" "g.155270043_155270064del" "" "{PMID:Manco 2008:18846674}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840761" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1999:10374175}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840762" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840763" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840764" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840765" "2" "90" "1" "155263275" "155263275" "subst" "0" "00006" "PKLR_000108" "g.155263275G>A" "" "{PMID:Zarza 1998:9827908}" "" "C1223T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840766" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840767" "1" "90" "1" "155264132" "155264132" "subst" "0" "00006" "PKLR_000111" "g.155264132C>T" "" "{PMID:Zarza 1998:9827908}" "" "G1010A" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000840768" "2" "90" "1" "155261570" "155261570" "subst" "8.12137E-6" "00006" "PKLR_000188" "g.155261570C>T" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840769" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840770" "1" "90" "1" "155264517" "155264517" "subst" "4.94161E-5" "00006" "PKLR_000027" "g.155264517C>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840771" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Zarza 1998:9827908}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840772" "21" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "00006" "PKLR_000102" "g.155264051C>T" "" "{PMID:Van Solinge 1997:9389718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840773" "21" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Solinge 1997:9389718}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840774" "11" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "00006" "PKLR_000102" "g.155264051C>T" "" "{PMID:Van Solinge 1997:9389718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840775" "21" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Van Solinge 1997:9389718}" "" "" "DI(A), HB, {PKLR:510gln}" "Germline" "" "" "0" "" "" "g.155291845C>T" "" "pathogenic (recessive)" "" "0000840776" "11" "90" "1" "155264051" "155264051" "subst" "4.06134E-6" "00006" "PKLR_000102" "g.155264051C>T" "" "{PMID:Van Solinge 1997:9389718}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000840986" "11" "90" "1" "155261570" "155261570" "subst" "8.12137E-6" "00006" "PKLR_000188" "g.155261570C>T" "" "{PMID:Lenzner 1994:8180378}, {PMID:Lenzner 1997:9057665}" "" "" "" "Germline" "" "" "0" "" "" "" "" 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"pathogenic (recessive)" "" "0000841220" "21" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841221" "21" "90" "1" "155264360" "155264360" "subst" "0" "00006" "PKLR_000342" "g.155264360T>A" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841222" "11" "90" "1" "155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841223" "11" "90" "1" "155264415" "155264415" "subst" "4.07222E-6" "00006" "PKLR_000052" "g.155264415C>T" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841224" "21" "90" "1" "155261571" "155261571" "subst" "8.12196E-6" "00006" "PKLR_000046" "g.155261571G>A" 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"155261636" "155261636" "subst" "0.000353297" "00006" "PKLR_000017" "g.155261636C>T" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841231" "1" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841232" "2" "90" "1" "155261571" "155261571" "subst" "8.12196E-6" "00006" "PKLR_000046" "g.155261571G>A" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841233" "3" "90" "1" "155261571" "155261571" "subst" "8.12196E-6" "00006" "PKLR_000046" "g.155261571G>A" "" "{PMID:Mojzikova 2014:24533562}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841242" "0" "30" "1" "155271691" "155271691" "del" "0" "00006" "PKLR_000062" "g.155271691del" "" "{PMID:Berghout 2012:21833022}" "" "c.-503del" "" "Germline" "" "" "0" "" "" "g.155301900del" "" "likely benign" "" "0000841243" "0" "30" "1" "155271550" "155271550" "subst" "0" "00006" "PKLR_000062" "g.155271550A>G" "" "{PMID:Berghout 2012:21833022}" "" "c.-364T>C" "" "Germline" "" "" "0" "" "" "g.155301759A>G" "" "likely benign" "" "0000841244" "0" "50" "1" "155271095" "155271095" "subst" "0.000393873" "00006" "HCN3_000006" "g.155271095G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155301304G>A" "" "VUS" "" "0000841245" "0" "30" "1" "155270398" "155270398" "subst" "0" "00006" "PKLR_000421" "g.155270398A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300607A>G" "" "likely benign" "" "0000841246" "0" "30" "1" "155270396" "155270396" "subst" "0" "00006" "PKLR_000420" "g.155270396G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300605G>A" "" "likely benign" "" "0000841247" "0" "30" "1" "155270272" "155270272" "subst" "0" "00006" "PKLR_000419" "g.155270272G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300481G>A" "" "likely benign" "" "0000841248" "0" "30" "1" "155270193" "155270193" "del" "0" "00006" "PKLR_000418" "g.155270193del" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300402del" "" "likely benign" "" "0000841249" "0" "30" "1" "155270064" "155270064" "subst" "2.49838E-5" "00006" "PKLR_000417" "g.155270064C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300273C>T" "" "likely benign" "" "0000841250" "0" "30" "1" "155270001" "155270001" "subst" "0.000142875" "00006" "PKLR_000416" "g.155270001C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300210C>T" "" "likely benign" "" "0000841251" "0" "30" "1" "155269991" "155269991" "subst" "0.00323162" "00006" "PKLR_000296" "g.155269991G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177962" "0" "" "" "g.155300200G>A" "" "likely benign" "" "0000841252" "0" "30" "1" "155269865" "155269865" "subst" "0.000294079" "00006" "PKLR_000415" "g.155269865C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300074C>T" "" "likely benign" "" "0000841253" "0" "30" "1" "155269831" "155269831" "subst" "0" "00006" "PKLR_000414" "g.155269831A>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177963" "0" "" "" "g.155300040A>T" "" "likely benign" "" "0000841254" "0" "30" "1" "155269825" "155269825" "subst" "0" "00006" "PKLR_000413" "g.155269825T>C" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155300034T>C" "" "likely benign" "" "0000841255" "0" "30" "1" "155269780" "155269780" "subst" "0" "00006" "PKLR_000412" "g.155269780G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177964" "0" "" "" "g.155299989G>A" "" "likely benign" "" "0000841256" "0" "30" "1" "155269776" "155269776" "subst" "0" "00006" "PKLR_000411" "g.155269776A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs3020781" "0" "" "" "g.155299985A>G" "" "likely benign" "" "0000841257" "0" "30" "1" "155265576" "155265576" "subst" "0.00207709" "00006" "PKLR_000410" "g.155265576C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155295785C>T" "" "likely benign" "" "0000841258" "0" "30" "1" "155265446" "155265446" "subst" "0.0138117" "00006" "PKLR_000020" "g.155265446C>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177971" "0" "" "" "g.155295655C>A" "" "likely benign" "" "0000841259" "0" "30" "1" "155265214" "155265214" "subst" "0.0001115" "00006" "PKLR_000409" "g.155265214G>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155295423G>T" "" "likely benign" "" "0000841260" "0" "30" "1" "155265192" "155265192" "subst" "0.00195263" "00006" "PKLR_000408" "g.155265192G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177872" "0" "" "" "g.155295401G>A" "" "likely benign" "" "0000841261" "0" "30" "1" "155265177" "155265177" "subst" "0" "00006" "PKLR_000407" "g.155265177A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs2071053" "0" "" "" "g.155295386A>G" "" "likely benign" "" "0000841262" "0" "30" "1" "155265021" "155265021" "subst" "0" "00006" "PKLR_000406" "g.155265021G>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155295230G>T" "" "likely benign" "" "0000841263" "0" "30" "1" "155264791" "155264791" "subst" "0" "00006" "PKLR_000405" "g.155264791G>C" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155295000G>C" "" "likely benign" "" "0000841264" "0" "30" "1" "155264686" "155264686" "subst" "0" "00006" "PKLR_000404" "g.155264686G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155294895G>A" "" "likely benign" "" "0000841265" "0" "30" "1" "155264623" "155264623" "subst" "0" "00006" "PKLR_000403" "g.155264623A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177973" "0" "" "" "g.155294832A>G" "" "likely benign" "" "0000841266" "0" "30" "1" "155264530" "155264530" "subst" "0" "00006" "PKLR_000402" "g.155264530C>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155294739C>G" "" "likely benign" "" "0000841267" "0" "50" "1" "155264433" "155264433" "subst" "0.000256791" "00006" "PKLR_000401" "g.155264433C>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000841268" "0" "70" "1" "155264424" "155264424" "subst" "0" "00006" "PKLR_000400" "g.155264424G>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000841269" "0" "70" "1" "155264409" "155264409" "subst" "0" "00006" "PKLR_000399" "g.155264409C>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000841270" "0" "70" "1" "155264354" "155264355" "delins" "0" "00006" "PKLR_000397" "g.155264354_155264355delinsAT" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000841271" "0" "30" "1" "155264335" "155264335" "subst" "4.06478E-6" "00006" "PKLR_000396" "g.155264335C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841272" "0" "30" "1" "155263430" "155263430" "subst" "0.00545301" "00006" "PKLR_000395" "g.155263430G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177979" "0" "" "" "g.155293639G>A" "" "likely benign" "" "0000841273" "0" "30" "1" "155263384" "155263384" "subst" "6.9127E-5" "00006" "PKLR_000394" "g.155263384G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177981" "0" "" "" "g.155293593G>A" "" "likely benign" "" "0000841274" "0" "30" "1" "155263174" "155263174" "subst" "0" "00006" "PKLR_000393" "g.155263174G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155293383G>A" "" "likely benign" "" "0000841275" "0" "30" "1" "155263166" "155263166" "subst" "0.00273699" "00006" "PKLR_000392" "g.155263166G>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs61208773" "0" "" "" "g.155293375G>T" "" "likely benign" "" "0000841276" "0" "50" "1" "155263059" "155263059" "subst" "3.65464E-5" "00006" "PKLR_000391" "g.155263059G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155293268G>A" "" "VUS" "" "0000841277" "0" "30" "1" "155262639" "155262639" "del" "0" "00006" "PKLR_000389" "g.155262639del" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177983" "0" "" "" "g.155292848del" "" "likely benign" "" "0000841278" "0" "30" "1" "155262613" "155262613" "subst" "0" "00006" "PKLR_000388" "g.155262613C>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs4620533" "0" "" "" "g.155292822C>G" "" "likely benign" "" "0000841279" "0" "30" "1" "155262414" "155262414" "subst" "0" "00006" "PKLR_000387" "g.155262414C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177985" "0" "" "" "g.155292623C>T" "" "likely benign" "" "0000841280" "0" "30" "1" "155262370" "155262370" "subst" "0" "00006" "PKLR_000386" "g.155262370G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155292579G>A" "" "likely benign" "" "0000841281" "0" "30" "1" "155262334" "155262334" "subst" "0" "00006" "PKLR_000385" "g.155262334A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155292543A>G" "" "likely benign" "" "0000841282" "0" "30" "1" "155262313" "155262313" "subst" "0" "00006" "PKLR_000384" "g.155262313A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155292522A>G" "" "likely benign" "" "0000841283" "0" "30" "1" "155262277" "155262277" "subst" "0" "00006" "PKLR_000383" "g.155262277A>C" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155292486A>C" "" "likely benign" "" "0000841284" "0" "30" "1" "155262209" "155262209" "subst" "0" "00006" "PKLR_000382" "g.155262209C>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155292418C>G" "" "likely benign" "" "0000841285" "0" "30" "1" "155262087" "155262087" "subst" "0" "00006" "PKLR_000381" "g.155262087A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155292296A>G" "" "likely benign" "" "0000841286" "0" "30" "1" "155262014" "155262014" "subst" "0" "00006" "PKLR_000379" "g.155262014A>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8177987" "0" "" "" "g.155292223A>T" "" "likely benign" "" "0000841287" "0" "30" "1" "155262002" "155262002" "subst" "0" "00006" "PKLR_000378" "g.155262002C>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155292211C>A" "" "likely benign" "" "0000841288" "0" "30" "1" "155261777" "155261777" "subst" "0.129889" "00006" "PKLR_000377" "g.155261777C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs3762272" "0" "" "" "g.155291986C>T" "" "likely benign" "" "0000841289" "0" "70" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155291918G>A" "" "likely pathogenic" "" "0000841290" "0" "30" "1" "155261644" "155261644" "subst" "2.03041E-5" "00006" "PKLR_000376" "g.155261644G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155291853G>A" "" "likely benign" "" "0000841291" "0" "30" "1" "155260669" "155260669" "subst" "0" "00006" "PKLR_000374" "g.155260669A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000841292" "0" "30" "1" "155260625" "155260625" "subst" "0" "00006" "PKLR_000373" "g.155260625C>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155290834C>T" "" "likely benign" "" "0000841293" "0" "30" "1" "155260383" "155260383" "subst" "0.335811" "00006" "PKLR_000010" "g.155260383G>T" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs1052177" "0" "" "" "g.155290592G>T" "" "likely benign" "" "0000841294" "0" "30" "1" "155260350" "155260350" "subst" "0.333952" "00006" "PKLR_000246" "g.155260350A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs1052176" "0" "" "" "g.155290559A>G" "" "likely benign" "" "0000841295" "0" "30" "1" "155260096" "155260096" "subst" "0" "00006" "PKLR_000245" "g.155260096G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155290305G>A" "" "likely benign" "" "0000841296" "0" "30" "1" "155260150" "155260151" "ins" "0" "00006" "PKLR_000367" "g.155260150_155260151insT" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs932972" "0" "" "" "g.155290359_155290360insT" "" "likely benign" "" "0000841297" "0" "30" "1" "155260164" "155260166" "delins" "0" "00006" "PKLR_000370" "g.155260164_155260166delinsGAG" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155290373_155290375delinsGAG" "" "likely benign" "" "0000841298" "0" "30" "1" "155260160" "155260161" "ins" "0" "00006" "PKLR_000369" "g.155260160_155260161insA" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155290369_155290370insA" "" "likely benign" "" "0000841299" "0" "30" "1" "155260154" "155260157" "delins" "0" "00006" "PKLR_000368" "g.155260154_155260157delinsCCAAA" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155290363_155290366delinsCCAAA" "" "likely benign" "" "0000841300" "0" "30" "1" "155259323" "155259323" "subst" "0" "00006" "PKLR_000365" "g.155259323C>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "rs8847" "0" "" "" "g.155289532C>A" "" "likely benign" "" "0000841301" "0" "30" "1" "155259470" "155259470" "subst" "0" "00006" "PKLR_000366" "g.155259470A>C" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155289679A>C" "" "likely benign" "" "0000841302" "0" "30" "1" "155260618" "155260618" "subst" "0" "00006" "PKLR_000372" "g.155260618G>A" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155290827G>A" "" "likely benign" "" "0000841303" "0" "30" "1" "155260596" "155260596" "subst" "0" "00006" "PKLR_000371" "g.155260596A>G" "" "{PMID:Berghout 2012:21833022}" "" "" "" "Germline" "" "" "0" "" "" "g.155290805A>G" "" "likely benign" "" "0000841304" "2" "90" "1" "155261709" "155261709" "subst" "0.00309013" "00006" "PKLR_000018" "g.155261709G>A" "" "{PMID:Manco 2010:19758413}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841305" "1" "90" "1" "155263330" "155263330" "subst" "0" "00006" "PKLR_000047" "g.155263330C>T" "7/74 cases" "{PMID:Yavarian 2008:17977029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000848324" "0" "50" "1" "155264936" "155264936" "subst" "0" "01943" "PKLR_000346" "g.155264936C>T" "" "" "" "PKLR(NM_000298.6):c.665G>A (p.G222E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848325" "0" "30" "1" "155270061" "155270061" "subst" "0.000272196" "01943" "HCN3_000009" "g.155270061C>A" "" "" "" "PKLR(NM_000298.6):c.111G>T (p.G37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872588" "0" "90" "1" "155263324" "155263324" "subst" "4.06141E-6" "03779" "PKLR_000166" "g.155263324C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs1403323591" "0" "" "" "" "" "pathogenic" "" "0000880268" "0" "90" "1" "155264506" "155264515" "del" "0" "03779" "PKLR_000422" "g.155264506_155264515del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000881292" "21" "70" "1" "155269948" "155269948" "subst" "0" "02300" "PKLR_000423" "g.155269948A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.155300157A>G" "" "likely pathogenic (recessive)" "ACMG" "0000881365" "11" "70" "1" "155263031" "155263031" "subst" "1.62425E-5" "02300" "PKLR_000032" "g.155263031C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3, PP5" "Germline" "" "" "0" "" "" "g.155293240C>T" "" "likely pathogenic (recessive)" "ACMG" "0000910790" "0" "90" "1" "155265343" "155265345" "del" "0" "02326" "PKLR_000026" "g.155265343_155265345del" "" "" "" "PKLR(NM_000298.6):c.391_393delATC (p.I131del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922964" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "02327" "PKLR_000018" "g.155261709G>A" "" "" "" "PKLR(NM_000298.6):c.1456C>T (p.R486W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000922965" "0" "70" "1" "155264945" "155264945" "subst" "6.90978E-5" "02326" "PKLR_000192" "g.155264945A>G" "" "" "" "PKLR(NM_000298.6):c.656T>C (p.I219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927501" "0" "30" "1" "155263039" "155263039" "subst" "5.68505E-5" "03779" "PKLR_000424" "g.155263039G>A" "" "" "" "" "" "Unknown" "" "rs146708702" "0" "" "" "" "" "likely benign" "" "0000927941" "0" "70" "1" "155264501" "155264501" "subst" "0" "03779" "PKLR_000425" "g.155264501A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000946989" "0" "90" "1" "155261637" "155261637" "subst" "1.21823E-5" "02327" "PKLR_000185" "g.155261637G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000959510" "0" "90" "1" "155264148" "155264148" "subst" "5.68902E-5" "03779" "PKLR_000053" "g.155264148C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs773626254" "0" "" "" "" "" "pathogenic" "" "0000959511" "0" "50" "1" "155264373" "155264373" "subst" "0" "03779" "PKLR_000426" "g.155264373G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000959762" "0" "70" "1" "155264373" "155264373" "subst" "0" "03779" "PKLR_000426" "g.155264373G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000972042" "0" "90" "1" "155261558" "155261558" "subst" "0" "03779" "PKLR_000427" "g.155261558C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000973362" "0" "50" "1" "155252233" "155252233" "subst" "0" "01804" "HCN3_000010" "g.155252233A>G" "" "" "" "HCN3(NM_020897.3):c.310A>G (p.(Met104Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973363" "0" "30" "1" "155257692" "155257692" "subst" "0.000634513" "01804" "HCN3_000011" "g.155257692G>A" "" "" "" "HCN3(NM_020897.3):c.1763G>A (p.(Arg588Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973364" "0" "30" "1" "155261649" "155261649" "subst" "0.0043533" "01804" "PKLR_000008" "g.155261649C>T" "" "" "" "PKLR(NM_000298.6):c.1516G>A (p.(Val506Ile), p.V506I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973365" "0" "30" "1" "155264261" "155264261" "subst" "0.000170679" "02326" "HCN3_000012" "g.155264261C>T" "" "" "" "PKLR(NM_000298.6):c.965+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973366" "0" "50" "1" "155271095" "155271095" "subst" "0.000393873" "01804" "HCN3_000006" "g.155271095G>A" "" "" "" "PKLR(NM_000298.6):c.92C>T (p.A31V, p.(Ala31Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984934" "0" "70" "1" "155263224" "155263224" "subst" "0" "03779" "PKLR_000126" "g.155263224C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000984935" "0" "90" "1" "155265516" "155265516" "del" "0" "03779" "PKLR_000428" "g.155265516del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001007127" "0" "90" "1" "155263275" "155263275" "subst" "0" "03779" "PKLR_000108" "g.155263275G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1647348099" "0" "" "" "" "" "pathogenic" "" "0001013215" "0" "50" "1" "155254452" "155254452" "subst" "0" "02327" "HCN3_000013" "g.155254452C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001018819" "0" "70" "1" "155264036" "155264036" "subst" "0" "03779" "PKLR_000429" "g.155264036C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001030878" "0" "90" "1" "155261709" "155261709" "subst" "0.00309013" "03779" "PKLR_000018" "g.155261709G>A" "" "" "" "" "" "Unknown" "" "rs116100695" "0" "" "" "" "" "pathogenic" "" "0001030879" "0" "90" "1" "155263347" "155263347" "subst" "8.12394E-6" "03779" "PKLR_000009" "g.155263347G>A" "" "" "" "" "" "Unknown" "" "rs74315362" "0" "" "" "" "" "pathogenic" "" "0001031322" "0" "30" "1" "155254459" "155254459" "subst" "0.00158412" "01804" "HCN3_000014" "g.155254459G>A" "" "" "" "HCN3(NM_020897.3):c.1000G>A (p.(Val334Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031323" "0" "30" "1" "155263225" "155263225" "subst" "0" "01804" "HCN3_000015" "g.155263225C>T" "" "" "" "PKLR(NM_000298.6):c.1269+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031324" "0" "50" "1" "155265230" "155265230" "subst" "0.000499383" "01804" "HCN3_000016" "g.155265230C>A" "" "" "" "PKLR(NM_000298.6):c.505G>T (p.(Gly169Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044622" "0" "70" "1" "155260401" "155260401" "subst" "0" "03779" "PKLR_000430" "g.155260401C>T" "" "" "" "" "" "Unknown" "" "rs997370208" "0" "" "" "" "" "likely pathogenic" "" "0001050292" "0" "90" "1" "155264945" "155264945" "subst" "6.90978E-5" "02327" "PKLR_000192" "g.155264945A>G" "" "" "" "PKLR(NM_000298.6):c.656T>C (p.I219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PKLR ## Count = 1385 "{{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}}" "0000248226" "00016246" "10" "1738" "0" "1738" "0" "c.*13T>C" "r.(=)" "p.(=)" "" "" "0000250929" "00016246" "10" "1738" "0" "1738" "0" "c.*13T>C" "r.(=)" "p.(=)" "" "" "0000252548" "00016246" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Leu73Pro)" "" "" "0000252569" "00016246" "90" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(Ser130Pro)" "" "" "0000252582" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "" "" "0000252609" "00016246" "90" "694" "2" "694" "2" "c.694+2T>G" "r.spl?" "p.?" "" "" "0000252695" "00016246" "50" "1481" "0" "1481" "0" "c.1481T>C" "r.(?)" "p.(Ile494Thr)" "" "" "0000252723" "00016246" "50" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Leu374Pro)" "" "" "0000297007" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(Arg569=)" "" "" "0000298880" "00016246" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Trp201Ter)" "" "" "0000300860" "00016246" "30" "-117" "0" "-117" "0" "c.-117G>T" "r.(?)" "p.(=)" "" "" "0000300861" "00016246" "10" "-148" "0" "-148" "0" "c.-148C>T" "r.(?)" "p.(=)" "" "" "0000300862" "00016246" "10" "1992" "0" "1992" "0" "c.*267C>T" "r.(=)" "p.(=)" "" "" "0000300863" "00016246" "90" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Asp339His)" "" "" "0000300864" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "" "" "0000300865" "00016246" "70" "1099" "0" "1099" "0" "c.1099G>T" "r.(?)" "p.(Val367Phe)" "" "" "0000300866" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "" "" "0000300867" "00016246" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Ala386Thr)" "" "" "0000300868" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "" "" "0000300869" "00016246" "70" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "" "" "0000300870" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "" "" "0000300871" "00016246" "50" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" "" "" "0000300872" "00016246" "50" "1222" "0" "1222" "0" "c.1222A>C" "r.(?)" "p.(Thr408Pro)" "" "" "0000300873" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "" "" "0000300874" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Ala423=)" "" "" "0000300875" "00016246" "50" "1298" "0" "1298" "0" "c.1298A>G" "r.(?)" "p.(Tyr433Cys)" "" "" "0000300876" "00016246" "90" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Glu440Ter)" "" "" "0000300877" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "" "0000300878" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000300879" "00016246" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Ter)" "" "" "0000300880" "00016246" "50" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488Gln)" "" "" "0000300881" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "" "" "0000300882" "00016246" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "" "" "0000300883" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000300884" "00016246" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Gly511Glu)" "" "" "0000300885" "00016246" "90" "1612" "0" "1612" "0" "c.1612G>T" "r.(?)" "p.(Glu538Ter)" "" "" "0000300886" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Ter)" "" "" "0000300887" "00016246" "50" "1676" "0" "1676" "0" "c.1676G>C" "r.(?)" "p.(Arg559Pro)" "" "" "0000300888" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(Arg569=)" "" "" "0000300889" "00016246" "30" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Leu61=)" "" "" "0000300890" "00016246" "90" "284" "-2" "284" "-2" "c.284-2A>C" "r.spl?" "p.?" "" "" "0000300891" "00016246" "70" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Ala142Thr)" "" "" "0000300893" "00016246" "90" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Phe)" "" "" "0000300894" "00016246" "90" "376" "-2" "376" "-2" "c.376-2A>C" "r.spl?" "p.?" "" "" "0000300896" "00016246" "90" "508" "-2" "508" "-2" "c.508-2A>T" "r.spl?" "p.?" "" "" "0000300897" "00016246" "10" "627" "0" "627" "0" "c.627G>C" "r.(?)" "p.(Arg209=)" "" "" "0000300898" "00016246" "30" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Leu264=)" "" "" "0000300899" "00016246" "70" "804" "0" "804" "0" "c.804C>A" "r.(?)" "p.(Asp268Glu)" "" "" "0000300900" "00016246" "10" "814" "0" "814" "0" "c.814C>G" "r.(?)" "p.(Leu272Val)" "" "" "0000300901" "00016246" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "" "" "0000300902" "00016246" "70" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Ser)" "" "" "0000300903" "00016246" "10" "958" "0" "958" "0" "c.958G>C" "r.(?)" "p.(Val320Leu)" "" "" "0000300904" "00016246" "90" "966" "-1" "966" "-1" "c.966-1G>T" "r.spl?" "p.?" "" "" "0000300905" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "" "" "0000300906" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "" "" "0000453967" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "" "" "0000471342" "00016246" "30" "0" "0" "0" "0" "-" "r.0" "p.0" "_1" "" "0000471344" "00016246" "50" "0" "0" "0" "0" "-" "r.(=)" "p.(=)" "_1" "" "0000471345" "00016246" "50" "0" "0" "0" "0" "-" "r.0" "p.0" "_1" "" "0000471347" "00016246" "30" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000471348" "00016246" "30" "0" "0" "0" "0" "-" "r.(?)" "p.(?)" "_1" "" "0000471350" "00016246" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(?)" "_1" "" "0000471351" "00016246" "90" "-156" "0" "-156" "0" "c.-156G>C" "r.(?)" "p.(=)" "-" "" "0000471352" "00016246" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000471353" "00016246" "90" "0" "0" "0" "0" "-" "r.0" "p.0" "_1" "" "0000471355" "00016246" "90" "-82" "0" "-82" "0" "c.-82G>C" "r.(?)" "p.(=)" "-" "" "0000471356" "00016246" "90" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000471357" "00016246" "90" "0" "0" "0" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000471358" "00016246" "90" "0" "0" "0" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000471359" "00016246" "90" "0" "0" "0" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000471361" "00016246" "90" "0" "0" "0" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000471363" "00016246" "90" "-71" "0" "-71" "0" "c.-71A>G" "r.(?)" "p.(=)" "-" "" "0000471396" "00016246" "90" "100" "10" "100" "10" "c.100+10G>A" "r.spl" "p.?" "1i" "" "0000471397" "00016246" "90" "100" "10" "100" "10" "c.100+10G>A" "r.spl" "p.?" "1i" "" "0000471398" "00016246" "90" "100" "10" "100" "10" "c.100+10G>T" "r.spl" "p.?" "1i" "" "0000471399" "00016246" "90" "101" "-1" "101" "-1" "c.101-1G>A" "r.spl" "p.?" "2i" "" "0000471400" "00016246" "90" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Ala36Gly)" "3" "" "0000471402" "00016246" "90" "110" "0" "110" "0" "c.110G>A" "r.(?)" "p.(Gly37Glu)" "3" "" "0000471403" "00016246" "90" "118" "0" "118" "0" "c.118C>T" "r.(?)" "p.(Arg40Trp)" "3" "" "0000471404" "00016246" "90" "1698" "0" "1698" "0" "c.1698C>A" "r.(?)" "p.(Asn566Lys)" "" "" "0000471405" "00016246" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" "3" "" "0000471406" "00016246" "90" "142" "0" "159" "0" "c.142_159del" "r.(?)" "p.(Thr48_Thr53del)" "3" "" "0000471407" "00016246" "90" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Gln58*)" "3" "" "0000471408" "00016246" "90" "173" "0" "188" "0" "c.173_188dup" "r.0" "p.0" "3" "Essen1" "0000471409" "00016246" "90" "218" "0" "218" "0" "c.218T>C" "r.(?)" "p.(Leu73Pro)" "3" "" "0000471410" "00016246" "90" "227" "0" "231" "0" "c.227_231del" "r.(?)" "p.(Leu76Hisfs*2)" "3" "" "0000471411" "00016246" "90" "238" "0" "238" "0" "c.238T>C" "r.238u>c" "p.Ser80Pro" "3" "" "0000471412" "00016246" "90" "238" "0" "238" "0" "c.238T>C" "r.(?)" "p.(Ser80Pro)" "3" "" "0000471413" "00016246" "90" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Pro82His)" "3" "" "0000471414" "00016246" "90" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Val83Trpfs*25)" "3" "" "0000471416" "00016246" "90" "269" "0" "269" "0" "c.269T>A" "r.(?)" "p.(Ile90Asn)" "3" "" "0000471417" "00016246" "90" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Thr93Ile)" "3" "" "0000471418" "00016246" "90" "283" "0" "283" "0" "c.283G>A" "RNA processing (IIc)" "p.(Gly95Arg)" "3" "" "0000471419" "00016246" "90" "283" "0" "283" "0" "c.283G>A" "r.101_283del" "p.Pro35_Gly95del" "3" "" "0000471420" "00016246" "90" "283" "1914" "1434" "0" "c.283+1914_1434del" "r.284_1436del" "p.Gly95fs" "3i_11" "" "0000471421" "00016246" "90" "283" "1914" "1434" "0" "c.283+1914_1434del" "r.(?)" "p.?" "3i_10" "" "0000471422" "00016246" "90" "284" "-2" "284" "-2" "c.284-2A>C" "r.0" "p.0" "3i" "" "0000471423" "00016246" "90" "284" "-2" "284" "-2" "c.284-2A>T" "r.284_289del" "p.Gly95_Pro96del" "3i" "Aomori" "0000471424" "00016246" "90" "376" "-1" "376" "-1" "c.376-1G>A" "r.spl" "p.?" "4i" "" "0000471425" "00016246" "90" "284" "-1" "1436" "1" "c.(283+1_284-1)_(1436+1_1437-1)del" "r.del" "p.?" "3i_10i" "" "0000471426" "00016246" "90" "307" "0" "307" "0" "c.307del" "r.(?)" "p.(Arg103Alafs*5)" "4" "" "0000471427" "00016246" "90" "307" "0" "307" "0" "c.307del" "r.(?)" "p.(Arg103Alafs*5)" "4" "" "0000471428" "00016246" "90" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Met107Thr)" "4" "" "0000471429" "00016246" "90" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Met107Thr)" "4" "" "0000471430" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000471431" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000471432" "00016246" "90" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Ala115Pro)" "4" "Val-de-Marne" "0000471433" "00016246" "90" "347" "0" "350" "0" "c.347_350delinsAACATTG" "r.(?)" "p.(Arg116_Leu117delinsGlnHisCys)" "4" "" "0000471434" "00016246" "90" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Phe)" "4" "" "0000471435" "00016246" "90" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Phe)" "4" "Beaujon" "0000471436" "00016246" "90" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Phe)" "4" "" "0000471437" "00016246" "90" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ser120Phe)" "4" "" "0000471438" "00016246" "90" "363" "0" "363" "0" "c.363C>A" "r.(?)" "p.(His121Gln)" "4" "" "0000471439" "00016246" "90" "375" "2" "375" "2" "c.375+2T>C" "r.spl" "p.?" "4i" "" "0000471440" "00016246" "90" "375" "10" "375" "10" "c.375+10G>T" "r.spl" "p.?" "4i" "" "0000471441" "00016246" "90" "375" "10" "375" "10" "c.375+10G>T" "r.spl?" "p.?" "4i" "" "0000471442" "00016246" "90" "375" "10" "375" "10" "c.375+10G>T" "r.spl" "p.?" "4i" "" "0000471443" "00016246" "90" "375" "10" "375" "10" "c.375+10G>T" "r.spl?" "p.(?)" "4i" "" "0000471444" "00016246" "90" "376" "-2" "376" "-2" "c.376-2A>C" "r.spl" "p.?" "4i" "" "0000471446" "00016246" "90" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Cys)" "4" "Linz" "0000471448" "00016246" "90" "389" "0" "389" "0" "c.389C>A" "r.(?)" "p.(Ser130Tyr)" "5" "Conakry" "0000471449" "00016246" "90" "391" "0" "393" "0" "c.391_393del" "r.(?)" "p.(Ile131del)" "5" "" "0000471450" "00016246" "90" "391" "0" "393" "0" "c.391_393del" "r.(?)" "p.(Ile131del)" "5" "" "0000471451" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000471452" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000471453" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000471454" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000471455" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000471456" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000471457" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000471458" "00016246" "90" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Trp)" "5" "" "0000471459" "00016246" "90" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Ala137Thr)" "5" "" "0000471460" "00016246" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Gly143Ser)" "5" "" "0000471461" "00016246" "90" "434" "0" "434" "0" "c.434del" "r.(?)" "p.(Pro145Hisfs*34)" "5" "Beppu" "0000471463" "00016246" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Ala154Thr)" "5" "" "0000471464" "00016246" "90" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Leu155Pro)" "5" "" "0000471465" "00016246" "90" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Gly159Val)" "5" "" "0000471466" "00016246" "90" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Gly159Val)" "5" "" "0000471467" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "" "Beirut" "0000471468" "00016246" "90" "488" "0" "488" "0" "c.488G>T" "r.(?)" "p.(Arg163Leu)" "5" "" "0000471470" "00016246" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "5" "" "0000471471" "00016246" "90" "499" "0" "499" "0" "c.499C>A" "r.(?)" "p.(Leu167Met)" "5" "" "0000471472" "00016246" "90" "507" "0" "507" "0" "c.507G>A" "r.spl" "p.?" "5" "" "0000471473" "00016246" "90" "507" "1" "507" "1" "c.507+1G>A" "r.[376_507del,376_694del]" "p.{Tyr126_Gly169del,Tyr126fs*]" "5i" "" "0000471474" "00016246" "95" "507" "20" "507" "20" "c.507+20C>A" "r.(?)" "p.(=)" "5i" "" "0000471475" "00016246" "90" "514" "0" "514" "0" "c.514G>C" "r.(?)" "p.(Glu172Gln)" "6" "" "0000471477" "00016246" "90" "514" "0" "514" "0" "c.514G>C" "r.(?)" "p.(Glu172Gln)" "6" "" "0000471478" "00016246" "90" "550" "0" "569" "0" "c.550_569delinsAAG" "r.(?)" "p.(Leu184Lysfs*31)" "6" "" "0000471479" "00016246" "90" "601" "0" "601" "0" "c.601T>M" "r.(?)" "p.(Trp201Arg)" "6" "" "0000471480" "00016246" "90" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.(Trp201*)" "6" "" "0000471481" "00016246" "90" "628" "0" "629" "0" "c.628_629del" "r.(?)" "p.(Val210Argfs*10)" "6" "" "0000471482" "00016246" "90" "644" "0" "644" "0" "c.644del" "r.(?)" "p.(Gly215Alafs*12)" "6" "" "0000471484" "00016246" "90" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Asp221Asn)" "6" "" "0000471485" "00016246" "90" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Asp221Asn)" "6" "" "0000471486" "00016246" "90" "661" "0" "661" "0" "c.661G>T" "r.(?)" "p.(Asp221Tyr)" "6" "" "0000471487" "00016246" "90" "662" "0" "664" "0" "c.662_664dup" "r.(?)" "p.(Asp221dup)" "6" "" "0000471488" "00016246" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "6" "" "0000471489" "00016246" "90" "694" "0" "694" "0" "c.694G>T" "r.(?)" "p.(Gly232Cys)" "6" "" "0000471490" "00016246" "90" "694" "0" "694" "0" "c.694G>T" "r.(?)" "p.(Gly232Cys)" "6" "" "0000471491" "00016246" "90" "694" "0" "694" "0" "c.694G>T" "r.(?)" "p.(Gly232Cys)" "6" "" "0000471493" "00016246" "90" "694" "2" "694" "2" "c.694+2T>G" "r.(?)" "p.(=)" "6i" "" "0000471494" "00016246" "90" "695" "-2" "695" "-2" "c.695-2A>T" "r.1437_1503del" "p.Ser480fs*" "6i" "" "0000471495" "00016246" "90" "695" "-2" "695" "-2" "c.695-2A>T" "r.spl" "p.?" "6i" "" "0000471496" "00016246" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Ile314Thr)" "6" "Hong Kong" "0000471498" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471499" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471500" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471501" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471502" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471503" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471504" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471505" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471507" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471508" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471509" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471510" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471511" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471512" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "Bukarest1" "0000471513" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471514" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.0" "p.0" "7" "" "0000471515" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000471516" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471517" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471519" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471520" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "7" "" "0000471521" "00016246" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Gly263Arg)" "7" "" "0000471522" "00016246" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Gly263Arg)" "7" "" "0000471523" "00016246" "90" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Gly263Trp)" "7" "Torre Annunziata" "0000471524" "00016246" "90" "796" "0" "796" "0" "c.796G>A" "r.(?)" "p.(Glu266Lys)" "7" "" "0000471525" "00016246" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "7" "" "0000471526" "00016246" "90" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270*)" "7" "" "0000471527" "00016246" "90" "814" "0" "814" "0" "c.814C>G" "r.(?)" "p.(Leu272Val)" "7" "" "0000471528" "00016246" "90" "814" "0" "814" "0" "c.814C>G" "r.(?)" "p.(Leu272Val)" "7" "" "0000471529" "00016246" "90" "814" "0" "814" "0" "c.814C>G" "r.(?)" "p.(Leu272Val)" "7" "" "0000471530" "00016246" "90" "815" "0" "815" "0" "c.815T>C" "r.(?)" "p.(Leu272Pro)" "7" "" "0000471531" "00016246" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "7" "" "0000471532" "00016246" "90" "823" "0" "823" "0" "c.823G>C" "r.(?)" "p.(Gly275Arg)" "7" "" "0000471534" "00016246" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Val276Trpfs*45)" "7" "" "0000471535" "00016246" "90" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Glu277Lys)" "7" "" "0000471536" "00016246" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Asp281Asn)" "7" "" "0000471537" "00016246" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Asp281Asn)" "7" "" "0000471538" "00016246" "90" "859" "0" "859" "0" "c.859T>C" "r.(?)" "p.(Phe287Leu)" "7" "" "0000471539" "00016246" "90" "859" "0" "859" "0" "c.859T>G" "r.(?)" "p.(Phe287Val)" "7" "" "0000471540" "00016246" "90" "862" "0" "862" "0" "c.862G>T" "r.(?)" "p.(Val288Leu)" "7" "" "0000471541" "00016246" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Asp293Asn)" "7" "" "0000471542" "00016246" "90" "877" "0" "877" "0" "c.877G>A" "r.(?)" "p.(Asp293Asn)" "7" "" "0000471543" "00016246" "90" "884" "0" "884" "0" "c.884C>T" "r.(?)" "p.(Ala295Val)" "7" "" "0000471544" "00016246" "90" "929" "0" "929" "0" "c.929T>A" "r.(?)" "p.(Ile310Asn)" "7" "Dordrecht" "0000471545" "00016246" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Ile314Thr)" "7" "" "0000471546" "00016246" "90" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Glu315Lys)" "7" "" "0000471547" "00016246" "90" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Glu315Lys)" "7" "" "0000471548" "00016246" "90" "948" "0" "948" "0" "c.948C>G" "r.(?)" "p.(Asn316Lys)" "7" "Saigon" "0000471549" "00016246" "90" "953" "0" "955" "0" "c.953_955del" "r.(?)" "p.(Glu318del)" "7" "" "0000471550" "00016246" "90" "953" "0" "955" "0" "c.953_955del" "r.(?)" "p.(Glu318del)" "7" "" "0000471551" "00016246" "90" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Met)" "7" "" "0000471552" "00016246" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asp331Gly)" "" "" "0000471553" "00016246" "50" "958" "0" "958" "0" "c.958G>C" "r.(?)" "p.(Val320Leu)" "7" "" "0000471554" "00016246" "90" "965" "1" "965" "1" "c.965+1G>T" "r.965_966ins[u;965+2_966-1]" "p.Phe323*" "7i" "Kowloon" "0000471556" "00016246" "90" "965" "1" "965" "1" "c.965+1G>T" "r.965_966ins[u;965+2_966-1]" "p.Phe323*" "7i" "Kowloon" "0000471559" "00016246" "90" "990" "0" "990" "0" "c.990C>A" "r.(?)" "p.(Ser330Arg)" "8" "" "0000471561" "00016246" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Asp331Asn)" "8" "" "0000471562" "00016246" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Asp331Asn)" "8" "" "0000471563" "00016246" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asp331Gly)" "8" "" "0000471565" "00016246" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asp331Gly)" "8" "" "0000471566" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000471567" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000471568" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000471569" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000471570" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000471571" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000471572" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000471574" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Gly341Asp)" "" "" "0000471575" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000471576" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471577" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471579" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471581" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471582" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471583" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471584" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471585" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471586" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471587" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471588" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471590" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471591" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000471592" "00016246" "90" "1003" "0" "1003" "0" "c.1003G>A" "r.(?)" "p.(Val335Met)" "8" "" "0000471593" "00016246" "90" "1006" "0" "1006" "0" "c.1006G>T" "r.(?)" "p.(Ala336Ser)" "8" "" "0000471594" "00016246" "90" "1006" "0" "1006" "0" "c.1006G>T" "r.(?)" "p.(Ala336Ser)" "8" "" "0000471595" "00016246" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Trp)" "8" "" "0000471596" "00016246" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Trp)" "8" "" "0000471597" "00016246" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "8" "" "0000471598" "00016246" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "8" "" "0000471599" "00016246" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "8" "" "0000471600" "00016246" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "8" "" "0000471601" "00016246" "90" "1010" "0" "1010" "0" "c.1010G>C" "r.(?)" "p.(Arg337Pro)" "8" "" "0000471602" "00016246" "90" "1010" "0" "1010" "0" "c.1010G>C" "r.(?)" "p.(Arg337Pro)" "8" "" "0000471603" "00016246" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Asp339Thrfs*2)" "8" "" "0000471605" "00016246" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Asp339Thrfs*2)" "8" "" "0000471606" "00016246" "90" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Asp339Asn)" "8" "" "0000471607" "00016246" "90" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Asp339His)" "8" "" "0000471608" "00016246" "90" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Asp339His)" "8" "" "0000471609" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Gly341Asp)" "8" "" "0000471610" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Gly341Asp)" "8" "" "0000471611" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>C" "r.(?)" "p.(Gly341Ala)" "8" "" "0000471612" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>C" "r.(?)" "p.(Gly341Ala)" "8" "" "0000471613" "00016246" "90" "1024" "0" "1024" "0" "c.1024A>T" "r.(?)" "p.(Ile342Phe)" "8" "" "0000471614" "00016246" "90" "1042" "0" "1044" "0" "c.1042_1044del" "r.(?)" "p.(Lys348del)" "8" "" "0000471615" "00016246" "90" "1042" "0" "1044" "0" "c.1042_1044del" "r.(?)" "p.(Lys348del)" "8" "" "0000471616" "00016246" "90" "1044" "0" "1044" "0" "c.1044G>T" "r.1044g>a" "p.Lys348Asn" "8" "" "0000471617" "00016246" "90" "1055" "0" "1055" "0" "c.1055C>A" "r.(?)" "p.(Ala352Asp)" "8" "" "0000471618" "00016246" "90" "1061" "0" "1063" "0" "c.1061_1063del" "r.(?)" "p.(Lys354del)" "8" "" "0000471619" "00016246" "90" "1061" "0" "1063" "0" "c.1061_1063del" "r.(?)" "p.(Lys354del)" "8" "" "0000471620" "00016246" "90" "1061" "0" "1063" "0" "c.1061_1063del" "r.(?)" "p.(Lys354del)" "8" "" "0000471621" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000471622" "00016246" "90" "1070" "0" "1070" "0" "c.1070T>C" "r.(?)" "p.(Ile357Thr)" "8" "" "0000471623" "00016246" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Arg)" "8" "" "0000471624" "00016246" "90" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Gly358Glu)" "8" "" "0000471625" "00016246" "90" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Gly358Glu)" "8" "" "0000471626" "00016246" "90" "1075" "0" "1075" "0" "c.1075C>T" "r.1075c>u" "p.Arg359Cys" "8" "Aomori" "0000471627" "00016246" "90" "1076" "0" "1076" "0" "c.1076G>A" "r.(?)" "p.(Arg359His)" "8" "" "0000471628" "00016246" "90" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Cys360Tyr)" "8" "" "0000471630" "00016246" "90" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Cys360Tyr)" "8" "" "0000471631" "00016246" "90" "1081" "0" "1081" "0" "c.1081A>G" "r.(?)" "p.(Asn361Asp)" "8" "" "0000471632" "00016246" "90" "1081" "0" "1081" "0" "c.1081A>G" "r.(?)" "p.(Asn361Asp)" "8" "" "0000471633" "00016246" "90" "1091" "0" "1091" "0" "c.1091dup" "r.(?)" "p.(Lys365Glnfs*36)" "8" "" "0000471634" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000471636" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000471637" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "Tjaereborg" "0000471638" "00016246" "90" "1094" "0" "1094" "0" "c.1094A>T" "r.(?)" "p.(Lys365Met)" "8" "" "0000471639" "00016246" "90" "1094" "0" "1094" "0" "c.1094A>T" "r.(?)" "p.(Lys365Met)" "8" "" "0000471641" "00016246" "90" "1102" "0" "1102" "0" "c.1102G>T" "r.(?)" "p.(Val368Phe)" "8" "Osaka" "0000471642" "00016246" "90" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Ile)" "8" "" "0000471643" "00016246" "90" "1116" "2" "1116" "2" "c.1116+2T>G" "r.1116_1117ins[gg;1116+3_1116+20]" "p.Met373fs" "8i" "" "0000471645" "00016246" "90" "1116" "2" "1116" "2" "c.1116+2T>G" "r.spl" "p.?" "8i" "" "0000471647" "00016246" "90" "1116" "2" "1116" "2" "c.1116+2T>G" "r.spl" "p.?" "8i" "" "0000471648" "00016246" "90" "1116" "2" "1116" "2" "c.1116+2T>G" "r.spl" "p.?" "8i" "" "0000471649" "00016246" "90" "1116" "2" "1116" "2" "c.1116+2T>G" "r.spl" "p.?" "8i" "" "0000471650" "00016246" "90" "1116" "2" "1116" "2" "c.1116+2T>G" "r.spl" "p.?" "8i" "" "0000471651" "00016246" "90" "1116" "2" "1116" "2" "c.1116+2T>G" "r.spl" "p.?" "8i" "" "0000471654" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.1151c>u" "p.Thr384Met" "8" "Tokyo" "0000471657" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.1151c>u" "p.Thr384Met" "8" "Tokyo" "0000471660" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.Thr384Met" "8" "" "0000471661" "00016246" "90" "1261" "0" "1261" "0" "c.1261C>A" "r.1261c>a" "p.Gln421Lys" "8" "Fukushima" "0000471665" "00016246" "90" "1261" "0" "1261" "0" "c.1261C>A" "r.(?)" "p.(Gln421Lys)" "8" "Sendai" "0000471667" "00016246" "10" "375" "10" "375" "10" "c.375+10G>T" "r.(?)" "p.(=)" "9" "" "0000471668" "00016246" "90" "990" "0" "990" "0" "c.990C>T" "r.spl" "p.(Ser330=)" "9" "" "0000471669" "00016246" "90" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Leu374Pro)" "9" "" "0000471670" "00016246" "90" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Leu374Pro)" "9" "" "0000471671" "00016246" "90" "1127" "0" "1127" "0" "c.1127G>T" "r.(?)" "p.(Ser376Ile)" "9" "" "0000471672" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "9" "" "0000471673" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "9" "Mosul" "0000471674" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "9" "" "0000471675" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000471676" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.1151c>u" "p.Thr384Met" "9" "Tokyo" "0000471677" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.1151c>u" "p.Thr384Met" "9" "Nagasaki" "0000471679" "00016246" "90" "1153" "0" "1153" "0" "c.1153A>T" "r.(?)" "p.(Arg385Trp)" "9" "" "0000471680" "00016246" "90" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385Lys)" "9" "" "0000471681" "00016246" "90" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385Lys)" "9" "" "0000471682" "00016246" "90" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385Lys)" "9" "" "0000471683" "00016246" "90" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(Glu387Gly)" "9" "" "0000471684" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "9" "Mantova" "0000471685" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "9" "" "0000471686" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "9" "" "0000471687" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "9" "" "0000471688" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "9" "" "0000471689" "00016246" "90" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "9" "" "0000471690" "00016246" "90" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "9" "" "0000471691" "00016246" "90" "1177" "0" "1177" "0" "c.1177A>G" "r.(?)" "p.(Asn393Asp)" "9" "" "0000471693" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471694" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471695" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471696" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471697" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471698" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471699" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "Paris" "0000471700" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471701" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471702" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000471703" "00016246" "90" "1179" "0" "1179" "0" "c.1179T>A" "r.(?)" "p.(Asn393Lys)" "9" "" "0000471704" "00016246" "90" "1180" "0" "1180" "0" "c.1180G>T" "r.(?)" "p.(Ala394Ser)" "9" "" "0000471705" "00016246" "90" "1181" "0" "1181" "0" "c.1181C>A" "r.(?)" "p.(Ala394Asp)" "9" "" "0000471706" "00016246" "90" "1181" "0" "1181" "0" "c.1181C>T" "r.(?)" "p.(Ala394Val)" "9" "" "0000471707" "00016246" "90" "1190" "0" "1190" "0" "c.1190A>T" "r.(?)" "p.(Asp397Val)" "9" "" "0000471708" "00016246" "90" "1190" "0" "1190" "0" "c.1190A>T" "r.(?)" "p.(Asp397Val)" "9" "" "0000471709" "00016246" "90" "1193" "0" "1193" "0" "c.1193G>C" "r.(?)" "p.(Gly398Ala)" "9" "" "0000471710" "00016246" "90" "1195" "0" "1195" "0" "c.1195del" "r.(?)" "p.(Ala399Leufs*20)" "9" "Mondor" "0000471711" "00016246" "90" "1202" "0" "1204" "0" "c.1202_1204dup" "r.(?)" "p.(Cys401_Ile402insSer)" "9" "" "0000471712" "00016246" "90" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Met403Ile)" "9" "" "0000471713" "00016246" "90" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Met403Ile)" "9" "" "0000471714" "00016246" "90" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Met403Ile)" "9" "" "0000471715" "00016246" "90" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Met403Ile)" "9" "" "0000471716" "00016246" "90" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Gly406Arg)" "9" "" "0000471717" "00016246" "90" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Glu407Lys)" "9" "" "0000471718" "00016246" "90" "1270" "-2" "1270" "-2" "c.1270-2A>C" "r.spl" "p.?" "9i" "" "0000471719" "00016246" "90" "1220" "0" "1220" "0" "c.1220A>G" "r.(?)" "p.(Glu407Gly)" "9" "" "0000471720" "00016246" "90" "1222" "0" "1222" "0" "c.1222A>C" "r.(?)" "p.(Thr408Pro)" "9" "" "0000471721" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "9" "" "0000471722" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "9" "" "0000471723" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "9" "" "0000471724" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "9" "" "0000471725" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "9" "" "0000471726" "00016246" "90" "1228" "0" "1228" "0" "c.1228A>G" "r.(?)" "p.(Lys410Glu)" "9" "" "0000471730" "00016246" "90" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" "9" "Daegu" "0000471731" "00016246" "90" "1232" "0" "1232" "0" "c.1232G>C" "r.(?)" "p.(Gly411Ala)" "9" "" "0000471733" "00016246" "90" "1261" "0" "1261" "0" "c.1261C>A" "r.1261c>a" "p.Gln421Lys" "9" "Maebashi" "0000471734" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.1117_1269del" "p.Met373_Ala423del" "9" "Kamata" "0000471735" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.0" "p.0" "9" "" "0000471736" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.1117_1269del" "p.Met373_Ala423del" "9" "" "0000471737" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(=)" "9" "" "0000471738" "00016246" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488*)" "" "" "0000471739" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>C" "r.0" "p.0" "9" "" "0000471740" "00016246" "90" "1269" "5" "1269" "5" "c.1269+5G>A" "r.spl" "p.?" "9i" "" "0000471741" "00016246" "90" "1116" "43" "1116" "43" "c.1116+43G>T" "r.0" "p.0" "8i" "" "0000471742" "00016246" "95" "1269" "44" "1269" "44" "c.1269+44C>T" "r.(?)" "p.(=)" "9i" "" "0000471743" "00016246" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asp331Gly)" "" "" "0000471744" "00016246" "90" "1270" "-1" "1270" "-1" "c.1270-1G>C" "r.spl" "p.?" "9i" "" "0000471745" "00016246" "90" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Glu440*)" "9" "Aarau" "0000471746" "00016246" "90" "1403" "0" "1403" "0" "c.1403C>T" "r.(?)" "p.(Ala468Val)" "9" "Hadano" "0000471751" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(spl?)" "p.(Arg479His)" "9" "Amish" "0000471752" "00016246" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Trp)" "10" "Naniwa" "0000471753" "00016246" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Trp)" "10" "" "0000471754" "00016246" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Trp)" "10" "" "0000471755" "00016246" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Arg426Trp)" "10" "" "0000471756" "00016246" "90" "1277" "0" "1277" "0" "c.1277G>A" "r.1277g>a" "p.Arg426Gln" "10" "Sapporo" "0000471757" "00016246" "90" "1281" "0" "1281" "0" "c.1281G>T" "r.(?)" "p.(Glu427Asp)" "10" "" "0000471758" "00016246" "90" "1281" "0" "1281" "0" "c.1281G>T" "r.(?)" "p.(Glu427Asp)" "10" "" "0000471759" "00016246" "90" "1291" "0" "1291" "0" "c.1291G>A" "r.(?)" "p.(Ala431Thr)" "10" "" "0000471760" "00016246" "90" "1291" "0" "1291" "0" "c.1291G>A" "r.(?)" "p.(Ala431Thr)" "10" "" "0000471761" "00016246" "90" "1294" "0" "1301" "0" "c.1294_1301del" "r.(?)" "p.(Val432Profs*5)" "10" "" "0000471762" "00016246" "90" "1369" "0" "1369" "0" "c.1369A>G" "r.(?)" "p.(Ile457Val)" "10" "" "0000471763" "00016246" "90" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Gly458Asp)" "10" "" "0000471764" "00016246" "90" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Gly458Asp)" "10" "" "0000471765" "00016246" "90" "1376" "0" "1376" "0" "c.1376C>T" "r.(?)" "p.(Ala459Val)" "10" "" "0000471766" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000471767" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000471769" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000471770" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000471771" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000471772" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000471773" "00016246" "90" "1409" "0" "1409" "0" "c.1409C>A" "r.(?)" "p.(Ala470Asp)" "10" "" "0000471774" "00016246" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Cys)" "10" "" "0000471775" "00016246" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Cys)" "10" "" "0000471776" "00016246" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Cys)" "10" "" "0000471778" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.[1436g>a,1270_1436del,1270_1503del,1270_1618del]" "p.[Arg479His,Ile424fs,Ile424_Gln501del]" "10" "" "0000471779" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471781" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471783" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471785" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471786" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471787" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471789" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471794" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471795" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471796" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471797" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471798" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471799" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471802" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "10" "" "0000471803" "00016246" "90" "1436" "1" "1436" "1" "c.1436+1G>C" "r.1270_1436del" "p.Ile424fs" "10i" "" "0000471805" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.(?)" "p.(Ser480Lysfs*76)" "10i_11i" "" "0000471807" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.1437_1618del" "p.Ser480Lysfs*76" "10i_11i" "" "0000471808" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.1437_1618del" "p.Ser480Lysfs*76" "10i_11i" "" "0000471809" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.1437_1618del" "p.Ser480Lysfs*76" "10i_11i" "" "0000471810" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.1437_1618del" "p.Ser480Lysfs*76" "10i_11i" "" "0000471811" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.1437_1618del" "p.Ser480Lysfs*76" "10i_11i" "" "0000471812" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.1437_1618del" "p.Ser480Lysfs*76" "10i_11i" "" "0000471813" "00016246" "90" "1437" "-1" "1618" "1" "c.(1436+1_1437-1)_(1618+1_1619-1)del" "r.?" "p.?" "10i_11i" "" "0000471815" "00016246" "11" "0" "0" "0" "0" "c.=" "r.(=)" "p.(=)" "11i" "" "0000471816" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Ser485Phe)" "" "" "0000471817" "00016246" "90" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ser485Phe)" "11" "" "0000471818" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471819" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471820" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471821" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471822" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471823" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471825" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "Milano" "0000471826" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "Milano" "0000471827" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "Milano" "0000471828" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471829" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471830" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471831" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471832" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471833" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471835" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471837" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.1456c>u" "p.Arg486Trp" "11" "" "0000471838" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.1456c>u" "p.Arg486Trp" "11" "" "0000471839" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471840" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471841" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471842" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471843" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471844" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471845" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471846" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471847" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471848" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471849" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471850" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471851" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471852" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471853" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471854" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471855" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471856" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471857" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471858" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471859" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471860" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471861" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471862" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471863" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471864" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471865" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471866" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471867" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471868" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471869" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471870" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471871" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471872" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471873" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471874" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471875" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471876" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471877" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471878" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471879" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471880" "00016246" "90" "1454" "0" "1454" "0" "c.1454C>T" "r.(?)" "p.(Ser485Phe)" "" "" "0000471881" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000471882" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000471883" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471885" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471890" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471891" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471893" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471894" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471895" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471896" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471898" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471899" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000471900" "00016246" "90" "1457" "0" "1457" "0" "c.1457G>T" "r.(?)" "p.(Arg486Leu)" "11" "" "0000471901" "00016246" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488*)" "11" "" "0000471903" "00016246" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "11" "" "0000471904" "00016246" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "11" "Tama" "0000471905" "00016246" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "11" "Gifu" "0000471906" "00016246" "90" "1468" "0" "1468" "0" "c.1468C>T" "r.1468c>u" "p.Arg490Trp" "11" "" "0000471908" "00016246" "90" "1481" "0" "1481" "0" "c.1481T>C" "r.(?)" "p.(Ile494Thr)" "11" "" "0000471909" "00016246" "90" "1483" "0" "1483" "0" "c.1483G>A" "r.1483g>a" "p.Ala495Thr" "11" "" "0000471911" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471912" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471913" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471914" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471915" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471917" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471919" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471920" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471921" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000471922" "00016246" "90" "1195" "0" "1195" "0" "c.1195del" "r.(?)" "p.(Ala399Leufs*20)" "" "" "0000471923" "00016246" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "11" "" "0000471924" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "" "" "0000471925" "00016246" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "11" "" "0000471926" "00016246" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "11" "" "0000471928" "00016246" "90" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "11" "" "0000471929" "00016246" "90" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "11" "" "0000471930" "00016246" "90" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "11" "" "0000471931" "00016246" "90" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "11" "" "0000471932" "00016246" "90" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "11" "" "0000471933" "00016246" "90" "1501" "0" "1501" "0" "c.1501C>T" "r.(?)" "p.(Gln501*)" "11" "" "0000471934" "00016246" "90" "1508" "0" "1508" "0" "c.1508C>T" "r.(?)" "p.(Ala503Val)" "11" "" "0000471935" "00016246" "90" "1511" "0" "1511" "0" "c.1511G>T" "r.(?)" "p.(Arg504Leu)" "11" "" "0000471936" "00016246" "90" "1515" "0" "1518" "0" "c.1515_1518dup" "r.(?)" "p.(His507Glyfs*14)" "11" "" "0000471937" "00016246" "90" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Ile)" "11" "" "0000471938" "00016246" "90" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Ile)" "11" "" "0000471939" "00016246" "90" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Ile)" "11" "Mallorca" "0000471940" "00016246" "90" "1523" "0" "1523" "0" "c.1523T>G" "r.(?)" "p.(Leu508*)" "11" "" "0000471941" "00016246" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510*)" "11" "" "0000471942" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471943" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471944" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471945" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471946" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471947" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471948" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471949" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471950" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471951" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471952" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471953" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471954" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471955" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471956" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471957" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471958" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471959" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471960" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471961" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471962" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471963" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471964" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471965" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471966" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471967" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471969" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "Aprica" "0000471970" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471972" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471974" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471975" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.1529g>a" "p.Arg510Gln" "11" "" "0000471976" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471977" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471979" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471981" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471983" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471985" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471987" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471988" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471989" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471990" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471992" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471993" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471995" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471996" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471997" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000471998" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "Paris" "0000471999" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472000" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472001" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472002" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472004" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472006" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472007" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "Hamburg" "0000472008" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "Köln" "0000472009" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472010" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472011" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472012" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472013" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472014" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472015" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472018" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472019" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472020" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472021" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472022" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472023" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472024" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472025" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472026" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472027" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472028" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000472029" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000472031" "00016246" "90" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Arg518Ser)" "11" "Soresina" "0000472034" "00016246" "90" "1576" "0" "1576" "0" "c.1576dup" "r.(?)" "p.(Ala526Glyfs*3)" "11" "" "0000472035" "00016246" "90" "1576" "0" "1576" "0" "c.1576dup" "r.(?)" "p.(Ala526Glyfs*3)" "11" "" "0000472036" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000472041" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000472042" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000472043" "00016246" "90" "1612" "0" "1612" "0" "c.1612G>T" "r.(?)" "p.(Glu538*)" "11" "" "0000472044" "00016246" "90" "1614" "0" "1614" "0" "c.1614A>T" "r.(?)" "p.(Glu538Asp)" "11" "" "0000472045" "00016246" "90" "1618" "0" "1618" "0" "c.1618G>C" "r.(?)" "p.(Gly540Arg)" "11" "" "0000472046" "00016246" "90" "1618" "1" "1618" "1" "c.1618+1del" "r.spl" "p.?" "11i" "" "0000472047" "00016246" "90" "1618" "1" "1618" "1" "c.1618+1del" "r.1437_1618del" "p.Arg479fs" "11i" "" "0000472048" "00016246" "90" "1618" "1" "1618" "1" "c.1618+1G>C" "r.spl" "p.?" "11i" "" "0000472049" "00016246" "90" "1618" "1" "1618" "1" "c.1618+1G>C" "r.spl" "p.?" "11i" "" "0000472050" "00016246" "90" "1618" "1" "1618" "1" "c.1618+1G>C" "r.spl" "p.?" "11i" "" "0000472051" "00016246" "90" "1618" "37" "2064" "0" "c.1618+37_*339del" "r.[1618_1619ins1618+1_1618+36;1619_*339del]" "p.Lys541fs" "11i_12" "" "0000472052" "00016246" "11" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[12]" "r.(?)" "p.(=)" "11i" "ATT[12]" "0000472053" "00016246" "11" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[13]" "r.(?)" "p.(=)" "11i" "ATT[13]" "0000472054" "00016246" "11" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[14]" "r.(?)" "p.(=)" "11i" "ATT[14]" "0000472055" "00016246" "11" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[15]" "r.(?)" "p.(=)" "11i" "ATT[15]" "0000472056" "00016246" "11" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[16]" "r.(?)" "p.(=)" "11i" "ATT[16]" "0000472057" "00016246" "11" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[18]" "r.(?)" "p.(=)" "11i" "ATT[18]" "0000472058" "00016246" "11" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[19]" "r.(?)" "p.(=)" "11i" "ATT[19]" "0000472059" "00016246" "90" "1619" "-3" "1619" "-3" "c.1619-3C>G" "r.spl?" "p.?" "11i" "" "0000472070" "00016246" "90" "1649" "0" "1649" "0" "c.1649A>T" "r.(?)" "p.(Asp550Val)" "12" "" "0000472071" "00016246" "90" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Met)" "12" "" "0000472072" "00016246" "90" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Met)" "12" "" "0000472073" "00016246" "90" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Met)" "12" "" "0000472074" "00016246" "90" "1670" "0" "1670" "0" "c.1670G>C" "r.(?)" "p.(Gly557Ala)" "12" "" "0000472075" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>G" "r.(?)" "p.(Arg559Gly)" "12" "" "0000472076" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>G" "r.(?)" "p.(Arg559Gly)" "12" "" "0000472077" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559*)" "12" "" "0000472078" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559*)" "12" "" "0000472079" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559*)" "12" "" "0000472080" "00016246" "90" "1676" "0" "1676" "0" "c.1676G>C" "r.(?)" "p.(Arg559Pro)" "12" "" "0000472081" "00016246" "90" "1698" "0" "1698" "0" "c.1698C>A" "r.(?)" "p.(Asn566Lys)" "12" "" "0000472082" "00016246" "90" "1702" "0" "1702" "0" "c.1702A>G" "r.(?)" "p.(Met568Val)" "12" "" "0000472084" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(=)" "12" "" "0000472086" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(=)" "12" "" "0000472087" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(=)" "12" "" "0000472088" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(=)" "12" "" "0000472089" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(=)" "12" "" "0000472090" "00016246" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "12" "" "0000472091" "00016246" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "12" "" "0000472092" "00016246" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "12" "" "0000472093" "00016246" "90" "1706" "0" "1706" "0" "c.1706G>T" "r.(?)" "p.(Arg569Leu)" "12" "" "0000503567" "00016246" "10" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Ile)" "" "" "0000503568" "00016246" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Ile314Thr)" "" "" "0000503569" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "" "" "0000503570" "00016246" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "" "" "0000578993" "00016246" "70" "0" "0" "0" "0" "-" "r.=|inc" "p.=|inc" "_1" "" "0000578994" "00016246" "90" "0" "0" "0" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000604847" "00016246" "50" "14520" "0" "14520" "0" "c.*12795G>A" "r.(=)" "p.(=)" "" "" "0000604848" "00016246" "50" "9626" "0" "9626" "0" "c.*7901G>A" "r.(=)" "p.(=)" "" "" "0000604849" "00016246" "30" "7660" "0" "7660" "0" "c.*5935G>A" "r.(=)" "p.(=)" "" "" "0000604850" "00016246" "30" "7082" "0" "7082" "0" "c.*5357C>T" "r.(=)" "p.(=)" "" "" "0000604851" "00016246" "50" "4270" "0" "4270" "0" "c.*2545G>A" "r.(=)" "p.(=)" "" "" "0000647388" "00016246" "70" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000687891" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000687892" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "" "" "0000687893" "00016246" "30" "375" "10" "375" "10" "c.375+10G>C" "r.(=)" "p.(=)" "" "" "0000687894" "00016246" "50" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" "" "" "0000711849" "00016246" "70" "874" "0" "874" "0" "c.874A>G" "r.(?)" "p.(Ser292Gly)" "" "" "0000716879" "00016246" "50" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000716880" "00016246" "50" "1432" "0" "1432" "0" "c.1432G>T" "r.(?)" "p.(Gly478Cys)" "" "" "0000798817" "00016246" "30" "129" "0" "129" "0" "c.129T>C" "r.(?)" "p.(Ser43=)" "" "" "0000840042" "00016246" "70" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Asp339Asn)" "" "" "0000840043" "00016246" "90" "320" "0" "320" "0" "c.320T>C" "r.(?)" "p.(Met107Thr)" "" "" "0000840044" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840045" "00016246" "90" "142" "0" "159" "0" "c.142_159del" "r.(?)" "p.(Thr48_Thr53del)" "" "" "0000840046" "00016246" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "" "" "0000840047" "00016246" "90" "1061" "0" "1063" "0" "c.1061_1063del" "r.(?)" "p.(Lys354del)" "" "" "0000840048" "00016246" "90" "269" "0" "269" "0" "c.269T>A" "r.(?)" "p.(Ile90Asn)" "" "" "0000840049" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "" "" "0000840050" "00016246" "90" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Leu374Pro)" "" "" "0000840051" "00016246" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "" "" "0000840054" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840055" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840056" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "" "" "0000840057" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840058" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840059" "00016246" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337Trp)" "" "" "0000840060" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840061" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840062" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840063" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840064" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "" "" "0000840065" "00016246" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "" "" "0000840084" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "" "" "0000840085" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840086" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840087" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[16]" "r.(?)" "p.(=)" "11i" "ATT[16]" "0000840106" "00016246" "90" "966" "-1" "966" "-1" "c.966-1G>C" "r.spl?" "p.?" "" "" "0000840107" "00016246" "90" "966" "-1" "966" "-1" "c.966-1G>C" "r.spl" "p.?" "" "" "0000840108" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840109" "00016246" "90" "1163" "0" "1163" "0" "c.1163C>A" "r.(?)" "p.(Thr388Lys)" "" "" "0000840110" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840111" "00016246" "90" "965" "1" "965" "1" "c.965+1G>A" "r.spl" "p.?" "" "" "0000840112" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000840113" "00016246" "90" "1537" "0" "1537" "0" "c.1537T>A" "r.(?)" "p.(Phe513Ile)" "" "" "0000840276" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000840277" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840278" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840279" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840280" "00016246" "90" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Glu440Ter)" "10" "" "0000840281" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840282" "00016246" "90" "965" "2" "965" "2" "c.965+2T>C" "r.spl" "p.?" "7i" "" "0000840283" "00016246" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Ala154Thr)" "5" "" "0000840284" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840285" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840286" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000840287" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840288" "00016246" "90" "1195" "0" "1195" "0" "c.1195del" "r.(?)" "p.(Ala399LeufsTer20)" "9" "" "0000840289" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840290" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840291" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840292" "00016246" "70" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840293" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840294" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000840295" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840296" "00016246" "90" "397" "0" "397" "0" "c.397A>G" "r.(?)" "p.(Asn133Asp)" "5" "" "0000840297" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840298" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840299" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840300" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840301" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840302" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840303" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840304" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840305" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840306" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840307" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840308" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840309" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840310" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840311" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840312" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840313" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840314" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840315" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840316" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840317" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840318" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840319" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840320" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840321" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840322" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840323" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840324" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840325" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840326" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840327" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840328" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840329" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840330" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840331" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840332" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840333" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840334" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840335" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840336" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840337" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840338" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840339" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840340" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840341" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840342" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840343" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840344" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840345" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840346" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840347" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840348" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840349" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840350" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840351" "00016246" "90" "284" "-2" "284" "-2" "c.284-2A>C" "r.spl" "p.?" "3i" "" "0000840352" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840353" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840354" "00016246" "90" "1209" "0" "1209" "0" "c.1209G>A" "r.(?)" "p.(Met403Ile)" "9" "" "0000840355" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840356" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840357" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840358" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840359" "00016246" "90" "965" "1" "965" "1" "c.965+1G>A" "r.spl" "p.?" "7i" "" "0000840360" "00016246" "90" "965" "1" "965" "1" "c.965+1G>A" "r.spl" "p.?" "7i" "" "0000840361" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840362" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840363" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840364" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840365" "00016246" "90" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Asp331Asn)" "8" "" "0000840366" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840367" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840368" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840369" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840370" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840371" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840372" "00016246" "70" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Pro255Leu)" "7" "" "0000840373" "00016246" "70" "764" "0" "764" "0" "c.764C>T" "r.(?)" "p.(Pro255Leu)" "7" "" "0000840374" "00016246" "90" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Ile114Thr)" "4" "" "0000840375" "00016246" "90" "1437" "-1" "1618" "1" "c.(1436+1_1437-1)_(1618+1_*1279)del" "r.?" "p.?" "9i_10i_" "" "0000840376" "00016246" "90" "1437" "-1" "1618" "1" "c.(1436+1_1437-1)_(1618+1_1619-1)del" "r.?" "p.?" "10i_11i" "" "0000840377" "00016246" "90" "375" "1" "375" "1" "c.375+1G>A" "r.spl" "p.?" "4i" "" "0000840378" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840379" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000840380" "00016246" "90" "1495" "0" "1495" "0" "c.1495T>C" "r.(?)" "p.(Ser499Pro)" "11" "" "0000840381" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840382" "00016246" "90" "307" "0" "307" "0" "c.307del" "r.(?)" "p.(Arg103AlafsTer5)" "4" "" "0000840383" "00016246" "70" "100" "343" "100" "412" "c.(100+1_100+343)_(100+412_101-1)del" "r.?" "p.?" "1i_3i" "" "0000840384" "00016246" "90" "787" "0" "787" "0" "c.787G>C" "r.(?)" "p.(Gly263Arg)" "7" "" "0000840385" "00016246" "90" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Asp156Gly)" "5" "" "0000840386" "00016246" "90" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Asp156Gly)" "5" "" "0000840387" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840388" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840389" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840390" "00016246" "90" "966" "-9" "966" "-9" "c.966-9A>G" "r.spl" "p.?" "7i" "" "0000840391" "00016246" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Asp281Asn)" "7" "" "0000840392" "00016246" "90" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Ala137Val)" "5" "" "0000840393" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000840394" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840395" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840396" "00016246" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "7" "" "0000840397" "00016246" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Ala154Thr)" "5" "" "0000840398" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840399" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840400" "00016246" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Ala154Thr)" "5" "" "0000840401" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840402" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840403" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840404" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000840405" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.?" "p.?" "10i_11i" "" "0000840406" "00016246" "90" "1542" "0" "1542" "0" "c.1542dup" "r.(?)" "p.(Leu516AlafsTer4)" "11" "" "0000840407" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840408" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840409" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840410" "00016246" "70" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" "1" "" "0000840411" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.?" "p.?" "10i_11i" "" "0000840412" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.?" "p.?" "10i_11i" "" "0000840413" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.?" "p.?" "10i_11i" "" "0000840414" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.?" "p.?" "10i_11i" "" "0000840415" "00016246" "90" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Glu315Lys)" "7" "" "0000840416" "00016246" "90" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Glu315Lys)" "7" "" "0000840417" "00016246" "90" "307" "0" "307" "0" "c.307del" "r.(?)" "p.(Arg103AlafsTer5)" "4" "" "0000840418" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840419" "00016246" "90" "439" "0" "439" "0" "c.439del" "r.(?)" "p.(Ser147AlafsTer32)" "5" "" "0000840420" "00016246" "90" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Gly222Arg)" "6" "" "0000840421" "00016246" "90" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Gly358Arg)" "8" "" "0000840422" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "9" "" "0000840423" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840424" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>C" "r.(?)" "p.(Gly341Ala)" "8" "" "0000840425" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840426" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840427" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840428" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840429" "00016246" "90" "644" "0" "644" "0" "c.644dup" "r.(?)" "p.(Arg216ProfsTer5)" "6" "" "0000840430" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000840431" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000840432" "00016246" "90" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Ile219Thr)" "6" "" "0000840433" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840434" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840435" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840436" "00016246" "90" "" "0" "" "0" "c.(c.-39_*1279)del" "r.?" "p.?" "" "" "0000840437" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000840438" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Gly341Asp)" "8" "" "0000840439" "00016246" "90" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Ala154Thr)" "5" "" "0000840440" "00016246" "90" "1553" "0" "1558" "0" "c.1553_1558del" "r.(?)" "p.(Arg518_Glu519del)" "11" "" "0000840441" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840442" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840443" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000840444" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840445" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840446" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840447" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840448" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840449" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840450" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840451" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000840452" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840453" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840454" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840455" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000840456" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840457" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840458" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>C" "r.(?)" "p.(Gly341Ala)" "8" "" "0000840459" "00016246" "90" "391" "0" "393" "0" "c.391_393del" "r.(?)" "p.(Ile131del)" "5" "" "0000840460" "00016246" "90" "1022" "0" "1022" "0" "c.1022G>C" "r.(?)" "p.(Gly341Ala)" "8" "" "0000840461" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840462" "00016246" "90" "391" "0" "393" "0" "c.391_393del" "r.(?)" "p.(Ile131del)" "5" "" "0000840463" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840464" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840465" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840466" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000840467" "00016246" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840468" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840469" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840470" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000840471" "00016246" "90" "283" "1914" "1434" "0" "c.283+1914_1434del" "r.spl" "p.?" "2i_10" "" "0000840472" "00016246" "90" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Ala502Pro)" "11" "" "0000840473" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000840474" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840475" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.spl" "p.?" "9" "" "0000840476" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.spl" "p.?" "9" "" "0000840477" "00016246" "90" "1574" "0" "1574" "0" "c.1574G>A" "r.(?)" "p.(Trp525Ter)" "11" "" "0000840478" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840479" "00016246" "90" "1179" "0" "1179" "0" "c.1179T>A" "r.(?)" "p.(Asn393Lys)" "9" "" "0000840480" "00016246" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840481" "00016246" "90" "1351" "0" "1356" "0" "c.1351_1356dup" "r.(?)" "p.(Pro451_Thr452dup)" "10" "" "0000840482" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840483" "00016246" "90" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Glu407Lys)" "9" "" "0000840484" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840485" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840486" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840487" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000840488" "00016246" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Val276TrpfsTer45)" "7" "" "0000840489" "00016246" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Val276TrpfsTer45)" "7" "" "0000840490" "00016246" "90" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Gly159Val)" "5" "" "0000840491" "00016246" "90" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Gly159Val)" "5" "" "0000840492" "00016246" "90" "307" "0" "307" "0" "c.307del" "r.(?)" "p.(Arg103AlafsTer5)" "4" "" "0000840493" "00016246" "90" "1437" "-518" "1618" "440" "c.1437-518_1618+440del" "r.?" "p.?" "10i_11i" "" "0000840494" "00016246" "90" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Leu374Pro)" "9" "" "0000840495" "00016246" "90" "283" "0" "283" "0" "c.283G>A" "r.spl?" "p.(Gly95Arg)" "3" "" "0000840496" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840497" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840498" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840499" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840500" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840501" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000840502" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840503" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840504" "00016246" "90" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Leu374Pro)" "9" "" "0000840505" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840506" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000840507" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000840508" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840509" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840510" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840511" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000840512" "00016246" "90" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Arg359Cys)" "8" "" "0000840513" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840514" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>A" "r.spl" "p.?" "9" "" "0000840515" "00016246" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "5" "" "0000840516" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000840517" "00016246" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "5" "" "0000840518" "00016246" "90" "494" "0" "494" "0" "c.494G>T" "r.(?)" "p.(Gly165Val)" "5" "" "0000840519" "00016246" "90" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Glu440Ter)" "10" "" "0000840520" "00016246" "90" "389" "0" "389" "0" "c.389C>A" "r.(?)" "p.(Ser130Tyr)" "5" "" "0000840521" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840522" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840523" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840524" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840525" "00016246" "90" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(Asn118Ser)" "4" "" "0000840526" "00016246" "70" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Met65Thr)" "3" "" "0000840527" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000840528" "00016246" "90" "464" "0" "464" "0" "c.464T>C" "r.(?)" "p.(Leu155Pro)" "5" "" "0000840529" "00016246" "70" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840530" "00016246" "90" "" "0" "" "0" "c.(1618+1_1619-1)_*1279{0}" "r.?" "p.?" "11i_12_" "" "0000840531" "00016246" "90" "" "0" "" "0" "c.(1618+1_1619-1)_*1279{0}" "r.?" "p.?" "11i_12_" "" "0000840532" "00016246" "90" "1437" "-1" "1618" "1" "c.(1436+1_1437-1)_(1618+1_1619-1)del" "r.?" "p.?" "10i_11i" "" "0000840533" "00016246" "90" "1487" "0" "1487" "0" "c.1487T>G" "r.(?)" "p.(Val496Gly)" "11" "" "0000840534" "00016246" "90" "1299" "0" "1299" "0" "c.1299C>A" "r.(?)" "p.(Tyr433Ter)" "10" "" "0000840535" "00016246" "90" "1531" "0" "1531" "0" "c.1531G>A" "r.(?)" "p.(Gly511Arg)" "11" "" "0000840536" "00016246" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Asp281Asn)" "7" "" "0000840537" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840538" "00016246" "90" "1156" "0" "1156" "0" "c.1156G>A" "r.(?)" "p.(Ala386Thr)" "9" "" "0000840539" "00016246" "90" "804" "0" "804" "0" "c.804C>A" "r.(?)" "p.(Asp268Glu)" "7" "" "0000840540" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840541" "00016246" "90" "1121" "0" "1121" "0" "c.1121T>C" "r.(?)" "p.(Leu374Pro)" "9" "" "0000840542" "00016246" "90" "457" "0" "457" "0" "c.457A>T" "r.(?)" "p.(Ile153Phe)" "5" "" "0000840543" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840544" "00016246" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "p.(Val276TrpfsTer45)" "7" "" "0000840545" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840546" "00016246" "90" "1542" "0" "1542" "0" "c.1542dup" "r.(?)" "p.(Leu516AlafsTer4)" "11" "" "0000840547" "00016246" "70" "143" "0" "143" "0" "c.143C>A" "r.(?)" "p.(Thr48Asn)" "3" "" "0000840548" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840549" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Ter)" "12" "" "0000840550" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Ter)" "12" "" "0000840551" "00016246" "90" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Arg518Ser)" "11" "" "0000840552" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840553" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840554" "00016246" "90" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Arg518Ser)" "11" "" "0000840555" "00016246" "90" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Asp221Asn)" "6" "" "0000840556" "00016246" "90" "1232" "0" "1232" "0" "c.1232G>C" "r.(?)" "p.(Gly411Ala)" "9" "" "0000840557" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Arg559Ter)" "12" "" "0000840558" "00016246" "90" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Gln505Glu)" "11" "" "0000840559" "00016246" "90" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Gln505Glu)" "11" "" "0000840560" "00016246" "90" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Pro82His)" "3" "" "0000840561" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000840562" "00016246" "90" "1015" "0" "1015" "0" "c.1015G>T" "r.(?)" "p.(Asp339Tyr)" "8" "" "0000840563" "00016246" "90" "1181" "0" "1181" "0" "c.1181C>T" "r.(?)" "p.(Ala394Val)" "9" "" "0000840564" "00016246" "90" "1515" "0" "1518" "0" "c.1515_1518dup" "r.(?)" "p.(His507GlyfsTer14)" "11" "" "0000840565" "00016246" "90" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "11" "" "0000840566" "00016246" "70" "762" "0" "762" "0" "c.762G>T" "r.(?)" "p.(Leu254Phe)" "7" "" "0000840567" "00016246" "90" "1618" "2" "1618" "2" "c.1618+2T>C" "r.spl" "p.?" "11i" "" "0000840568" "00016246" "90" "956" "0" "956" "0" "c.956G>T" "r.(?)" "p.(Gly319Val)" "7" "" "0000840569" "00016246" "90" "1654" "0" "1654" "0" "c.1654G>T" "r.(?)" "p.(Val552Leu)" "12" "" "0000840570" "00016246" "90" "1654" "0" "1654" "0" "c.1654G>T" "r.(?)" "p.(Val552Leu)" "12" "" "0000840571" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000840572" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840573" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000840574" "00016246" "90" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "10" "" "0000840575" "00016246" "90" "1675" "0" "1675" "0" "c.1675C>G" "r.(?)" "p.(Arg559Gly)" "12" "" "0000840576" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000840577" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000840578" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000840579" "00016246" "90" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Gly222Glu)" "6" "" "0000840580" "00016246" "90" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Gly222Glu)" "6" "" "0000840581" "00016246" "90" "120" "0" "120" "0" "c.120del" "r.(?)" "p.(Arg41GlyfsTer7)" "3" "" "0000840582" "00016246" "90" "376" "-2" "376" "-2" "c.376-2A>C" "r.spl" "p.?" "4i" "" "0000840583" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000840584" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840585" "00016246" "70" "977" "0" "977" "0" "c.977T>A" "r.(?)" "p.(Ile326Asn)" "8" "" "0000840586" "00016246" "90" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "9" "" "0000840587" "00016246" "90" "1495" "0" "1495" "0" "c.1495T>C" "r.(?)" "p.(Ser499Pro)" "11" "" "0000840588" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840589" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840590" "00016246" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Met)" "10" "" "0000840591" "00016246" "90" "1091" "0" "1091" "0" "c.1091dup" "r.(?)" "p.(Lys365GlnfsTer36)" "8" "" "0000840592" "00016246" "90" "1091" "0" "1091" "0" "c.1091dup" "r.(?)" "p.(Lys365GlnfsTer36)" "8" "" "0000840593" "00016246" "90" "1576" "0" "1576" "0" "c.1576dup" "r.(?)" "p.(Ala526GlyfsTer3)" "11" "" "0000840594" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000840595" "00016246" "70" "1600" "0" "1600" "0" "c.1600C>A" "r.(?)" "p.(Gln534Lys)" "11" "" "0000840596" "00016246" "70" "1600" "0" "1600" "0" "c.1600C>A" "r.(?)" "p.(Gln534Lys)" "11" "" "0000840597" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840598" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840599" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840600" "00016246" "90" "1008" "0" "1008" "0" "c.1008dup" "r.(?)" "p.(Arg337ThrfsTer64)" "8" "" "0000840601" "00016246" "90" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Arg488Gln)" "11" "" "0000840602" "00016246" "90" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Pro414Arg)" "9" "" "0000840603" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840604" "00016246" "90" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Pro414Arg)" "9" "" "0000840605" "00016246" "90" "1241" "0" "1241" "0" "c.1241C>G" "r.(?)" "p.(Pro414Arg)" "9" "" "0000840606" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000840607" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840608" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840609" "00016246" "90" "1179" "0" "1179" "0" "c.1179T>A" "r.(?)" "p.(Asn393Lys)" "9" "" "0000840610" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "8" "" "0000840611" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840612" "00016246" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840613" "00016246" "70" "1618" "1" "1618" "1" "c.1618+1del" "r.spl" "p.?" "11i" "" "0000840614" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000840615" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000840616" "00016246" "90" "878" "0" "878" "0" "c.878A>T" "r.(?)" "p.(Asp293Val)" "7" "" "0000840617" "00016246" "90" "1496" "0" "1496" "0" "c.1496C>A" "r.(?)" "p.(Ser499Tyr)" "11" "" "0000840618" "00016246" "90" "1137" "0" "1139" "0" "c.1137_1139del" "r.(?)" "p.(Lys380del)" "9" "" "0000840619" "00016246" "90" "1137" "0" "1139" "0" "c.1137_1139del" "r.(?)" "p.(Lys380del)" "9" "" "0000840620" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000840621" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000840622" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000840623" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000840624" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840625" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840626" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840627" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840628" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "11" "" "0000840629" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840630" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840631" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.spl" "p.(Arg479His,?)" "10" "" "0000840632" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840633" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840634" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "11" "" "0000840635" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "8" "" "0000840636" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840637" "00016246" "90" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Gly458Asp)" "10" "" "0000840638" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "11" "" "0000840639" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "8" "" "0000840640" "00016246" "90" "1097" "0" "1097" "0" "c.1097C>T" "r.(?)" "p.(Pro366Leu)" "8" "" "0000840641" "00016246" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Ile314Thr)" "7" "" "0000840642" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840643" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840644" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840645" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840646" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840647" "00016246" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510Ter)" "11" "" "0000840648" "00016246" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "12" "" "0000840649" "00016246" "90" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Val134Asp)" "5" "" "0000840650" "00016246" "90" "376" "-2" "376" "-2" "c.376-2A>C" "r.spl" "p.?" "4i" "" "0000840651" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000840652" "00016246" "90" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "5i" "" "0000840653" "00016246" "90" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "9" "" "0000840654" "00016246" "90" "507" "1" "507" "1" "c.507+1G>A" "r.spl" "p.?" "5i" "" "0000840655" "00016246" "90" "269" "0" "269" "0" "c.269T>A" "r.(?)" "p.(Ile90Asn)" "3" "" "0000840656" "00016246" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Ter)" "11" "" "0000840657" "00016246" "90" "1706" "0" "1706" "0" "c.1706G>A" "r.(?)" "p.(Arg569Gln)" "12" "" "0000840658" "00016246" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Ile314Thr)" "7" "" "0000840659" "00016246" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "11" "" "0000840660" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241Ter)" "7" "" "0000840661" "00016246" "90" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Arg488Ter)" "11" "" "0000840662" "00016246" "90" "1154" "0" "1154" "0" "c.1154G>A" "r.(?)" "p.(Arg385Lys)" "9" "" "0000840663" "00016246" "90" "929" "0" "929" "0" "c.929T>A" "r.(?)" "p.(Ile310Asn)" "7" "" "0000840664" "00016246" "90" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "4" "" "0000840665" "00016246" "90" "1654" "0" "1654" "0" "c.1654G>A" "r.(?)" "p.(Val552Met)" "12" "" "0000840666" "00016246" "90" "142" "0" "159" "0" "c.142_159del" "r.(?)" "p.(Thr48_Thr53del)" "3" "" "0000840667" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840668" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840669" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840670" "00016246" "90" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Gly511Glu)" "11" "" "0000840671" "00016246" "90" "1076" "0" "1076" "0" "c.1076G>C" "r.(?)" "p.(Arg359Pro)" "8" "" "0000840672" "00016246" "90" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Cys)" "11" "" "0000840673" "00016246" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Trp525GlyfsTer5)" "11" "" "0000840674" "00016246" "90" "909" "0" "916" "0" "c.909_916del" "r.(?)" "p.(Glu304ArgfsTer9)" "7" "" "0000840675" "00016246" "70" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "3" "" "0000840676" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840677" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840680" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[17]" "r.(?)" "p.(=)" "11i" "ATT[17]" "0000840681" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "" "" "0000840682" "00016246" "90" "391" "0" "393" "0" "c.391_393del" "r.(?)" "p.(Ile131del)" "" "" "0000840683" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840684" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840685" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000840686" "00016246" "90" "826" "0" "826" "0" "c.826del" "r.(?)" "-" "" "" "0000840687" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840714" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840715" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840716" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000840717" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840718" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840719" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000840720" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840740" "00016246" "90" "1573" "0" "1573" "0" "c.1573del" "r.(?)" "p.(Trp525Glyfs*5)" "" "" "0000840741" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840742" "00016246" "90" "1618" "1" "1618" "1" "c.1618+1del" "r.spl" "p.?" "11i" "" "0000840743" "00016246" "90" "1123" "0" "1133" "0" "c.1123_1133dup" "r.(?)" "p.(Ile378Metfs*4)" "9" "" "0000840744" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840745" "00016246" "10" "0" "0" "0" "0" "-" "r.=" "p.=" "_1" "" "0000840746" "00016246" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840747" "00016246" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840748" "00016246" "90" "" "0" "" "0" "-" "r.=|inc" "p.=|inc" "_1" "" "0000840749" "00016246" "90" "" "0" "" "0" "-" "r.=|inc" "p.=|inc" "_1" "" "0000840750" "00016246" "90" "" "0" "" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000840751" "00016246" "90" "" "0" "" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000840752" "00016246" "90" "" "0" "" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000840753" "00016246" "90" "" "0" "" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000840754" "00016246" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840755" "00016246" "90" "" "0" "" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000840756" "00016246" "90" "" "0" "" "0" "-" "r.=|inc" "p.=|inc" "_1" "" "0000840757" "00016246" "90" "" "0" "" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000840758" "00016246" "90" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000840759" "00016246" "90" "1435" "0" "1435" "0" "c.1435C>T" "r.(?)" "p.(Arg479Cys)" "" "" "0000840760" "00016246" "90" "109" "0" "130" "0" "c.109_130del" "r.(?)" "p.(Gly37Trpfs*4)" "" "" "0000840761" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840762" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840763" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840764" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840765" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "" "" "0000840766" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840767" "00016246" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "" "0000840768" "00016246" "90" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532Gln)" "" "" "0000840769" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840770" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000840771" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000840772" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "" "Tjaereborg" "0000840773" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840774" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "" "Tjaereborg" "0000840775" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "11" "" "0000840776" "00016246" "90" "1091" "0" "1091" "0" "c.1091G>A" "r.(?)" "p.(Gly364Asp)" "" "Tjaereborg" "0000840986" "00016246" "90" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532Gln)" "" "" "0000840987" "00016246" "90" "1595" "0" "1595" "0" "c.1595G>A" "r.(?)" "p.(Arg532Gln)" "" "" "0000840988" "00016246" "90" "101" "-1" "101" "-1" "c.101-1G>A" "r.spl" "p.?" "" "" "0000840989" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000840996" "00016246" "90" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "" "" "0000840997" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841001" "00016246" "90" "965" "1" "965" "1" "c.965+1G>A" "r.spl" "p.?" "" "" "0000841002" "00016246" "90" "965" "1" "965" "1" "c.965+1G>A" "r.spl" "p.?" "" "" "0000841003" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841004" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841005" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841006" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841007" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "" "" "0000841008" "00016246" "90" "227" "0" "231" "0" "c.227_231del" "r.(?)" "p.(Leu76HisfsTer2)" "" "" "0000841009" "00016246" "90" "1269" "0" "1269" "0" "c.1269G>C" "r.spl" "p.?" "" "" "0000841010" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841011" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841012" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841013" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841014" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841015" "00016246" "90" "514" "0" "514" "0" "c.514G>C" "r.(?)" "p.(Glu172Gln)" "" "" "0000841016" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841017" "00016246" "90" "1015" "0" "1015" "0" "c.1015del" "r.(?)" "p.(Asp339ThrfsTer2)" "" "" "0000841018" "00016246" "90" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Gln505Glu)" "" "" "0000841019" "00016246" "90" "1513" "0" "1513" "0" "c.1513C>G" "r.(?)" "p.(Gln505Glu)" "" "" "0000841020" "00016246" "90" "1436" "2" "1436" "2" "c.1436+2T>G" "r.spl" "p.?" "" "" "0000841021" "00016246" "90" "1552" "0" "1552" "0" "c.1552C>A" "r.spl" "p.(Arg518Ser)" "" "" "0000841022" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "" "" "0000841023" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "" "" "0000841024" "00016246" "90" "839" "0" "839" "0" "c.839T>G" "r.(?)" "p.(Val280Gly)" "" "" "0000841025" "00016246" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Gly263Arg)" "" "" "0000841026" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841027" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841028" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "" "0000841029" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841030" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841031" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841032" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841033" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841034" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841035" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841036" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841037" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841063" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841064" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841065" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "" "" "0000841066" "00016246" "90" "458" "0" "458" "0" "c.458T>C" "r.(?)" "p.(Ile153Thr)" "" "" "0000841067" "00016246" "90" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Ile219Thr)" "" "" "0000841068" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.1529g>a" "p.Arg510Gln" "" "" "0000841069" "00016246" "90" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Asp281Asn)" "" "" "0000841070" "00016246" "90" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Ala495Thr)" "" "" "0000841071" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "" "" "0000841072" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841073" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841074" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841075" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.1529c>u" "p.Arg532Trp" "" "" "0000841076" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841077" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841078" "00016246" "90" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Glu407Lys)" "" "" "0000841079" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841080" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841081" "00016246" "90" "958" "0" "958" "0" "c.958G>A" "r.(?)" "p.(Val320Met)" "" "" "0000841082" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "" "0000841083" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "" "0000841084" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "" "0000841085" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "" "0000841086" "00016246" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asp331Gly)" "" "" "0000841087" "00016246" "90" "992" "0" "992" "0" "c.992A>G" "r.(?)" "p.(Asp331Gly)" "" "" "0000841088" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841089" "00016246" "90" "1488" "0" "1488" "0" "c.1488del" "r.(?)" "p.(Thr497Profs*33)" "" "" "0000841090" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841091" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841092" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "Bukarest2" "0000841093" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841094" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841095" "00016246" "90" "993" "0" "993" "0" "c.993C>A" "r.(?)" "p.(Asp331Glu)" "" "" "0000841096" "00016246" "90" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Ala495Val)" "" "" "0000841097" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000841098" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "" "" "0000841099" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841100" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841101" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841102" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841103" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841104" "00016246" "90" "721" "0" "721" "0" "c.721G>T" "r.(?)" "p.(Glu241*)" "" "" "0000841105" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841106" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841189" "00016246" "90" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "" "0000841190" "00016246" "90" "1183" "0" "1183" "0" "c.1183G>C" "r.(?)" "p.(Val395Leu)" "" "" "0000841191" "00016246" "90" "941" "0" "941" "0" "c.941T>C" "r.(?)" "p.(Ile314Thr)" "" "" "0000841194" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841195" "00016246" "50" "0" "0" "0" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000841196" "00016246" "90" "0" "0" "0" "0" "-" "r.=|red" "p.=|red" "_1" "" "0000841197" "00016246" "10" "1437" "-305" "1437" "-305" "c.1437-305del" "r.(?)" "p.(=)" "10i" "T[9]" "0000841198" "00016246" "10" "1437" "-314" "1437" "-305" "c.1437-314_1437-305=" "r.(?)" "p.(=)" "10i" "T[10]" "0000841199" "00016246" "10" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(=)" "12" "" "0000841200" "00016246" "10" "1992" "0" "1992" "0" "c.*267C>T" "r.(=)" "p.(=)" "12" "" "0000841204" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[12]" "r.(?)" "p.(=)" "11i" "ATT[12]" "0000841205" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[11]" "r.(?)" "p.(=)" "11i" "ATT[11]" "0000841206" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[13]" "r.(?)" "p.(=)" "11i" "ATT[13]" "0000841207" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[14]" "r.(?)" "p.(=)" "11i" "ATT[14]" "0000841209" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[15]" "r.(?)" "p.(=)" "11i" "ATT[15]" "0000841210" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[16]" "r.(?)" "p.(=)" "11i" "ATT[16]" "0000841211" "00016246" "10" "1619" "-362" "1619" "-312" "c.1619-362_1619-312ATT[17]" "r.(?)" "p.(=)" "11i" "ATT[17]" "0000841214" "00016246" "90" "347" "0" "350" "0" "c.347_350delinsAACATTG" "r.(?)" "p.(Arg116_Leu117delinsGlnHisCys)" "" "" "0000841215" "00016246" "90" "1553" "0" "1553" "0" "c.1553del" "r.(?)" "p.(Arg518Leufs*12)" "" "" "0000841216" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841217" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "" "0000841218" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "" "0000841220" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841221" "00016246" "90" "878" "0" "878" "0" "c.878A>T" "r.(?)" "p.(Asp293Val)" "" "" "0000841222" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841223" "00016246" "90" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Arg)" "" "" "0000841224" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "" "0000841225" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841226" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "" "" "0000841227" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841228" "00016246" "90" "1493" "0" "1493" "0" "c.1493G>A" "r.(?)" "p.(Arg498His)" "" "" "0000841229" "00016246" "90" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.(Arg510Gln)" "" "" "0000841231" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841232" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "" "0000841233" "00016246" "90" "1594" "0" "1594" "0" "c.1594C>T" "r.(?)" "p.(Arg532Trp)" "" "" "0000841242" "00016246" "30" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000841243" "00016246" "30" "" "0" "" "0" "-" "r.(?)" "p.(=)" "_1" "" "0000841244" "00016246" "50" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" "" "" "0000841245" "00016246" "30" "101" "-327" "101" "-327" "c.101-327T>C" "r.(?)" "p.?" "" "" "0000841246" "00016246" "30" "101" "-325" "101" "-325" "c.101-325C>T" "r.(?)" "p.?" "" "" "0000841247" "00016246" "30" "101" "-201" "101" "-201" "c.101-201C>T" "r.(?)" "p.?" "" "" "0000841248" "00016246" "30" "101" "-119" "101" "-119" "c.101-119del" "r.(?)" "p.?" "" "" "0000841249" "00016246" "30" "108" "0" "108" "0" "c.108G>A" "r.(?)" "p.(Ala36=)" "" "" "0000841250" "00016246" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(Gln57=)" "" "" "0000841251" "00016246" "30" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Leu61=)" "" "" "0000841252" "00016246" "30" "283" "24" "283" "24" "c.283+24G>A" "r.(?)" "p.?" "" "" "0000841253" "00016246" "30" "283" "58" "283" "58" "c.283+58T>A" "r.(?)" "p.?" "" "" "0000841254" "00016246" "30" "283" "64" "283" "64" "c.283+64A>G" "r.(?)" "p.?" "" "" "0000841255" "00016246" "30" "283" "109" "283" "109" "c.283+109C>T" "r.(?)" "p.?" "" "" "0000841256" "00016246" "30" "283" "113" "283" "113" "c.283+113T>C" "r.(?)" "p.?" "" "" "0000841257" "00016246" "30" "284" "-29" "284" "-29" "c.284-29G>A" "r.(?)" "p.?" "" "" "0000841258" "00016246" "30" "375" "10" "375" "10" "c.375+10G>T" "r.(?)" "p.?" "" "" "0000841259" "00016246" "30" "507" "14" "507" "14" "c.507+14C>A" "r.(?)" "p.?" "" "" "0000841260" "00016246" "30" "507" "36" "507" "36" "c.507+36C>T" "r.(?)" "p.?" "" "" "0000841261" "00016246" "30" "507" "51" "507" "51" "c.507+51T>C" "r.(?)" "p.?" "" "" "0000841262" "00016246" "30" "580" "0" "580" "0" "c.580C>A" "r.(?)" "p.(Arg194=)" "" "" "0000841263" "00016246" "30" "694" "116" "694" "116" "c.694+116C>G" "r.(?)" "p.?" "" "" "0000841264" "00016246" "30" "695" "-143" "695" "-143" "c.695-143C>T" "r.(?)" "p.?" "" "" "0000841265" "00016246" "30" "695" "-80" "695" "-80" "c.695-80T>C" "r.(?)" "p.?" "" "" "0000841266" "00016246" "30" "708" "0" "708" "0" "c.708G>C" "r.(?)" "p.(Leu236=)" "" "" "0000841267" "00016246" "50" "805" "0" "805" "0" "c.805G>T" "r.(?)" "p.(Val269Phe)" "" "" "0000841268" "00016246" "70" "814" "0" "814" "0" "c.814C>A" "r.(?)" "p.(Leu272Met)" "" "" "0000841269" "00016246" "70" "829" "0" "829" "0" "c.829G>C" "r.(?)" "p.(Glu277Gln)" "" "" "0000841270" "00016246" "70" "883" "0" "884" "0" "c.883_884delinsAT" "r.(?)" "p.(Ala295Ile)" "" "" "0000841271" "00016246" "30" "903" "0" "903" "0" "c.903G>A" "r.(?)" "p.(Leu301=)" "" "" "0000841272" "00016246" "30" "1117" "-49" "1117" "-49" "c.1117-49C>T" "r.(?)" "p.?" "" "" "0000841273" "00016246" "30" "1117" "-3" "1117" "-3" "c.1117-3C>T" "r.(?)" "p.?" "" "" "0000841274" "00016246" "30" "1270" "-40" "1270" "-40" "c.1270-40C>T" "r.(?)" "p.?" "" "" "0000841275" "00016246" "30" "1270" "-32" "1270" "-32" "c.1270-32C>A" "r.(?)" "p.?" "" "" "0000841276" "00016246" "50" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449Cys)" "" "" "0000841277" "00016246" "30" "1436" "329" "1436" "329" "c.1436+329del" "r.(?)" "p.?" "" "" "0000841278" "00016246" "30" "1436" "355" "1436" "355" "c.1436+355G>C" "r.(?)" "p.?" "" "" "0000841279" "00016246" "30" "1436" "554" "1436" "554" "c.1436+554G>A" "r.(?)" "p.?" "" "" "0000841280" "00016246" "30" "1436" "598" "1436" "598" "c.1436+598C>T" "r.(?)" "p.?" "" "" "0000841281" "00016246" "30" "1437" "-606" "1437" "-606" "c.1437-606T>C" "r.(?)" "p.?" "" "" "0000841282" "00016246" "30" "1437" "-585" "1437" "-585" "c.1437-585T>C" "r.(?)" "p.?" "" "" "0000841283" "00016246" "30" "1437" "-549" "1437" "-549" "c.1437-549T>G" "r.(?)" "p.?" "" "" "0000841284" "00016246" "30" "1437" "-481" "1437" "-481" "c.1437-481G>C" "r.(?)" "p.?" "" "" "0000841285" "00016246" "30" "1437" "-359" "1437" "-359" "c.1437-359T>C" "r.(?)" "p.?" "" "" "0000841286" "00016246" "30" "1437" "-286" "1437" "-286" "c.1437-286T>A" "r.(?)" "p.?" "" "" "0000841287" "00016246" "30" "1437" "-274" "1437" "-274" "c.1437-274G>T" "r.(?)" "p.?" "" "" "0000841288" "00016246" "30" "1437" "-49" "1437" "-49" "c.1437-49G>A" "r.(?)" "p.?" "" "" "0000841289" "00016246" "70" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841290" "00016246" "30" "1521" "0" "1521" "0" "c.1521C>T" "r.(?)" "p.(His507=)" "" "" "0000841291" "00016246" "30" "1619" "-200" "1619" "-200" "c.1619-200T>C" "r.(?)" "p.?" "" "" "0000841292" "00016246" "30" "1619" "-156" "1619" "-156" "c.1619-156G>A" "r.(?)" "p.?" "" "" "0000841293" "00016246" "30" "1705" "0" "1705" "0" "c.1705C>A" "r.(?)" "p.(Arg569=)" "" "" "0000841294" "00016246" "30" "1738" "0" "1738" "0" "c.*13T>C" "r.(?)" "p.?" "" "" "0000841295" "00016246" "30" "1992" "0" "1992" "0" "c.*267C>T" "r.(?)" "p.?" "" "" "0000841296" "00016246" "30" "1937" "0" "1938" "0" "c.*212_*213insA" "r.(?)" "p.?" "" "" "0000841297" "00016246" "30" "1922" "0" "1924" "0" "c.*197_*199delinsCTC" "r.(?)" "p.?" "" "" "0000841298" "00016246" "30" "1927" "0" "1928" "0" "c.*202_*203insT" "r.(?)" "p.?" "" "" "0000841299" "00016246" "30" "1931" "0" "1934" "0" "c.*206_*209delinsTTTGG" "r.(?)" "p.?" "" "" "0000841300" "00016246" "30" "2765" "0" "2765" "0" "c.*1040G>T" "r.(?)" "p.?" "" "" "0000841301" "00016246" "30" "2618" "0" "2618" "0" "c.*893T>G" "r.(?)" "p.?" "" "" "0000841302" "00016246" "30" "1619" "-149" "1619" "-149" "c.1619-149C>T" "r.(?)" "p.?" "" "" "0000841303" "00016246" "30" "1619" "-127" "1619" "-127" "c.1619-127T>C" "r.(?)" "p.?" "" "" "0000841304" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000841305" "00016246" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Asp390Asn)" "" "" "0000848324" "00016246" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Gly222Glu)" "" "" "0000848325" "00016246" "30" "111" "0" "111" "0" "c.111G>T" "r.(?)" "p.(Gly37=)" "" "" "0000872588" "00016246" "90" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Ala392Thr)" "" "" "0000880268" "00016246" "90" "724" "0" "733" "0" "c.724_733del" "r.(?)" "p.(Asn242SerfsTer8)" "" "" "0000881292" "00016246" "70" "224" "0" "224" "0" "c.224T>C" "r.(?)" "p.(Leu75Pro)" "" "" "0000881365" "00016246" "70" "1373" "0" "1373" "0" "c.1373G>A" "r.(?)" "p.(Gly458Asp)" "" "" "0000910790" "00016246" "90" "391" "0" "393" "0" "c.391_393del" "r.(?)" "p.(Ile131del)" "" "" "0000922964" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0000922965" "00016246" "70" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Ile219Thr)" "" "" "0000927501" "00016246" "30" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(Thr455=)" "" "" "0000927941" "00016246" "70" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Leu246Pro)" "" "" "0000946989" "00016246" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(?)" "p.(Arg510*)" "" "" "0000959510" "00016246" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Ser)" "" "" "0000959511" "00016246" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Trp)" "" "" "0000959762" "00016246" "70" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Arg289Trp)" "" "" "0000972042" "00016246" "90" "1607" "0" "1607" "0" "c.1607G>A" "r.(?)" "p.(Gly536Asp)" "" "" "0000973362" "00016246" "50" "9855" "0" "9855" "0" "c.*8130T>C" "r.(=)" "p.(=)" "" "" "0000973363" "00016246" "30" "4396" "0" "4396" "0" "c.*2671C>T" "r.(=)" "p.(=)" "" "" "0000973364" "00016246" "30" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Val506Ile)" "" "" "0000973365" "00016246" "30" "965" "12" "965" "12" "c.965+12G>A" "r.(=)" "p.(=)" "" "" "0000973366" "00016246" "50" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Ala31Val)" "" "" "0000984934" "00016246" "70" "1269" "5" "1269" "5" "c.1269+5G>A" "r.(?)" "p.(?)" "" "" "0000984935" "00016246" "90" "316" "0" "316" "0" "c.316del" "r.(?)" "p.(Glu106ArgfsTer2)" "" "" "0001007127" "00016246" "90" "1223" "0" "1223" "0" "c.1223C>T" "r.(?)" "p.(Thr408Ile)" "" "" "0001013215" "00016246" "50" "7636" "0" "7636" "0" "c.*5911G>T" "r.(=)" "p.(=)" "" "" "0001018819" "00016246" "70" "1106" "0" "1106" "0" "c.1106G>A" "r.(?)" "p.(Cys369Tyr)" "" "" "0001030878" "00016246" "90" "1456" "0" "1456" "0" "c.1456C>T" "r.(?)" "p.(Arg486Trp)" "" "" "0001030879" "00016246" "90" "1151" "0" "1151" "0" "c.1151C>T" "r.(?)" "p.(Thr384Met)" "" "" "0001031322" "00016246" "30" "7629" "0" "7629" "0" "c.*5904C>T" "r.(=)" "p.(=)" "" "" "0001031323" "00016246" "30" "1269" "4" "1269" "4" "c.1269+4G>A" "r.spl?" "p.?" "" "" "0001031324" "00016246" "50" "505" "0" "505" "0" "c.505G>T" "r.(?)" "p.(Gly169Trp)" "" "" "0001044622" "00016246" "70" "1687" "0" "1687" "0" "c.1687G>A" "r.(?)" "p.(Gly563Ser)" "" "" "0001050292" "00016246" "90" "656" "0" "656" "0" "c.656T>C" "r.(?)" "p.(Ile219Thr)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1266 "{{screeningid}}" "{{variantid}}" "0000218335" "0000453967" "0000229992" "0000471342" "0000229992" "0000471345" "0000229992" "0000471353" "0000229992" "0000471975" "0000229994" "0000471344" "0000229994" "0000471974" "0000229996" "0000471347" "0000229997" "0000471348" "0000229998" "0000471350" "0000229998" "0000471479" "0000229999" "0000471351" "0000230000" "0000471352" "0000230002" "0000471355" "0000230003" "0000471356" "0000230003" "0000840744" "0000230004" "0000471357" "0000230004" "0000471837" "0000230005" "0000471358" "0000230005" "0000471838" "0000230006" "0000471359" "0000230007" "0000471361" "0000230008" "0000471363" "0000230008" "0000471875" "0000230009" "0000471400" "0000230010" "0000471627" "0000230010" "0000472084" "0000230011" "0000471951" "0000230012" "0000471684" "0000230013" "0000471410" "0000230014" "0000471826" "0000230015" "0000471827" "0000230016" "0000471841" "0000230017" "0000471561" "0000230018" "0000471844" "0000230019" "0000471502" "0000230020" "0000472090" "0000230021" "0000471762" "0000230022" "0000471638" "0000230023" "0000471510" "0000230024" "0000472045" "0000230025" "0000471570" "0000230026" "0000471524" "0000230027" "0000471992" "0000230028" "0000471740" "0000230029" "0000472075" "0000230030" "0000471398" "0000230031" "0000472093" "0000230032" "0000471396" "0000230033" "0000471769" "0000230034" "0000471397" "0000230035" "0000471869" "0000230036" "0000471870" "0000230037" "0000471773" "0000230038" "0000471871" "0000230039" "0000471872" "0000230040" "0000471399" "0000230040" "0000841027" "0000230042" "0000471402" "0000230043" "0000471403" "0000230044" "0000471404" "0000230045" "0000471405" "0000230045" "0000471606" "0000230046" "0000471406" "0000230046" "0000840046" "0000230047" "0000471407" "0000230048" "0000471408" "0000230048" "0000841068" "0000230049" "0000471409" "0000230049" "0000840047" "0000230050" "0000471411" "0000230050" "0000471906" "0000230051" "0000471412" "0000230051" "0000841066" "0000230052" "0000471413" "0000230053" "0000471414" "0000230054" "0000471416" "0000230054" "0000840049" "0000230054" "0000840087" "0000230055" "0000471417" "0000230055" "0000471849" "0000230056" "0000471418" "0000230057" "0000471419" "0000230058" "0000471420" "0000230058" "0000471459" "0000230059" "0000471421" "0000230060" "0000471422" "0000230060" "0000471501" "0000230061" "0000471423" "0000230061" "0000471626" "0000230062" "0000471424" "0000230062" "0000471438" "0000230063" "0000471425" "0000230063" "0000471548" "0000230064" "0000471426" "0000230064" "0000471766" "0000230064" "0000472087" "0000230065" "0000471427" "0000230065" "0000841103" "0000230066" "0000471428" "0000230066" "0000840714" "0000230067" "0000471429" "0000230067" "0000841106" "0000230068" "0000471430" "0000230068" "0000840065" "0000230069" "0000471431" "0000230069" "0000840048" "0000230070" "0000471432" "0000230071" "0000471433" "0000230071" "0000471509" 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