### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OTC) # 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}}" "OTC" "ornithine carbamoyltransferase" "X" "p21.1" "unknown" "NG_008471.1" "UD_132118484396" "" "https://www.LOVD.nl/OTC" "" "1" "8512" "5009" "300461" "1" "1" "1" "1" "The database was initiated based on the publications from Tuchman (2002) and Yamaguchi (2006).\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OTC_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2006-10-29 00:00:00" "00006" "2017-08-05 11:35:19" "00006" "2025-10-12 14:40:43" ## 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}}" "00000593" "OTC" "ornithine carbamoyltransferase" "001" "NM_000531.5" "" "NP_000522.3" "" "" "" "-214" "1433" "1065" "38211736" "38280703" "00000" "2012-09-13 12:36:41" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00221" "PKU" "phenylketonuria (PKU)" "AR" "261600" "" "" "" "00006" "2013-10-07 22:30:26" "00006" "2019-11-30 12:07:59" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02256" "OTCD" "deficiency, ornithine carbamoyltransferase (OTCD)" "XLR" "311250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "OTC" "02256" ## Individuals ## Do not remove or alter this header ## ## Count = 531 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00113109" "" "" "" "2" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Mozambique" "" "0" "" "" "" "" "00113110" "" "" "" "16" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113111" "" "" "" "1" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113112" "" "" "" "13" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113113" "" "" "" "7" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113114" "" "" "" "13" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113115" "" "" "" "18" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Mozambique" "" "0" "" "" "" "" "00113116" "" "" "" "21" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113117" "" "" "" "38" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113118" "" "" "" "7" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113119" "" "" "" "3" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113120" "" "" "" "3" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113121" "" "" "" "1" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Mozambique" "" "0" "" "" "" "" "00113122" "" "" "" "1" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113123" "" "" "" "1" "" "02173" "" "" "F" "" "" "" "0" "" "" "" "" "00113124" "" "" "" "24" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113125" "" "" "" "2" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Mozambique" "" "0" "" "" "" "" "00113126" "" "" "" "6" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113127" "" "" "" "3" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113128" "" "" "" "4" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113129" "" "" "" "6" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Mozambique" "" "0" "" "" "" "" "00113130" "" "" "" "2" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Portugal" "" "0" "" "" "" "" "00113131" "" "" "" "4" "" "00006" "{PMID:Azevedo 2003:12618087}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00113132" "" "" "" "1" "" "02152" "{PMID:Suess 1992:1627356}" "" "M" "" "" "" "0" "" "" "" "" "00113133" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113134" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113135" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113136" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113137" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113138" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113139" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113140" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113141" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "F" "" "" "" "0" "" "" "" "" "00113142" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113143" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113144" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113145" "" "" "" "1" "" "02152" "Tanaka 2005" "" "" "" "" "" "0" "" "" "" "" "00113146" "" "" "" "1" "" "02152" "Hwu 2003" "" "" "" "" "" "0" "" "" "" "" "00113147" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113148" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113149" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113150" "" "" "" "1" "" "02152" "Grompe 1991" "" "" "" "" "" "0" "" "" "" "" "00113151" "" "" "" "1" "" "02152" "Grompe 1989" "" "" "" "" "" "0" "" "" "" "" "00113152" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113153" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113154" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113155" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113156" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113157" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113158" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113159" "" "" "" "1" "" "02152" "Hoshide 1996" "" "" "" "" "" "0" "" "" "" "" "00113160" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113161" "" "" "" "1" "" "00006" "{PMID:Engel 2008:18440262}" "mother carrier" "M" "" "Germany" "" "0" "" "" "" "" "00113162" "" "" "" "1" "" "02152" "Bisanzi 2002" "" "F" "" "" "" "0" "" "" "" "" "00113163" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113164" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113165" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113166" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "F" "" "" "" "0" "" "" "" "" "00113167" "" "" "" "1" "" "02152" "Calvas 1998" "" "" "" "" "" "0" "" "" "" "" "00113168" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1995" "" "" "" "" "" "0" "" "" "" "" "00113169" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994b:7951259}" "" "" "" "" "" "0" "" "" "" "" "00113170" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113171" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113172" "" "" "" "1" "" "02152" "{PMID:Yoo 1996:8830175}; {PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113173" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "F" "" "" "" "0" "" "" "" "" "00113174" "" "" "" "1" "" "02152" "Grompe 1989" "" "" "" "" "" "0" "" "" "" "" "00113175" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113176" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113177" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113178" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113179" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113180" "" "" "" "1" "" "02152" "Grompe 1989" "" "" "" "" "" "0" "" "" "" "" "00113181" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113182" "" "" "" "1" "" "00006" "{PMID:Engel 2008:18440262}" "" "F" "" "Germany" "" "0" "" "" "" "" "00113183" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113184" "" "" "" "33" "" "00006" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00113185" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113186" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113187" "" "" "" "1" "" "02152" "Calvas 1998" "" "" "" "" "" "0" "" "" "" "" "00113188" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113189" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "F" "" "" "" "0" "" "" "" "" "00113190" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113191" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113192" "" "" "" "1" "" "02152" "Feldmann 1992" "" "F" "" "" "" "0" "" "" "" "" "00113193" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113194" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "F" "" "" "" "0" "" "" "" "" "00113195" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113196" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113197" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113198" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113199" "" "" "" "1" "" "02152" "Nishiyori 1998" "" "" "" "" "" "0" "" "" "" "" "00113200" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113201" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113202" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113203" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113204" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113205" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113207" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1996a" "" "" "" "" "" "0" "" "" "" "" "00113208" "" "" "" "1" "" "02152" "Azevedo 2002" "" "" "" "" "" "0" "" "" "" "" "00113209" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113210" "" "" "" "1" "" "02152" "{PMID:Tuchman 1992:1480464}" "" "" "" "" "" "0" "" "" "" "" "00113211" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "" "" "" "" "0" "" "" "" "" "00113212" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113213" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113214" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113215" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113216" "" "" "" "1" "" "02152" "{PMID:Tuchman 1992:1480464}" "" "" "" "" "" "0" "" "" "" "" "00113217" "" "" "" "1" "" "02152" "Schulz and Salo 2000" "" "F" "" "" "" "0" "" "" "" "" "00113218" "" "" "" "1" "" "02152" "Galloway 2000" "" "" "" "" "" "0" "" "" "" "" "00113219" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "F" "" "" "" "0" "" "" "" "" "00113220" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113221" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113222" "" "" "" "1" "" "02152" "Bartholomew and McClellan1998" "" "" "" "" "" "0" "" "" "" "" "00113223" "" "" "" "1" "" "02152" "Feldmann 1992" "" "" "" "" "" "0" "" "" "" "" "00113224" "" "" "" "1" "" "02152" "Reish 1993" "" "" "" "" "" "0" "" "" "" "" "00113225" "" "" "" "1" "" "02152" "Takanashi 2002" "" "F" "" "" "" "0" "" "" "" "" "00113226" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113227" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "F" "" "" "" "0" "" "" "" "" "00113228" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "F" "" "" "" "0" "" "" "" "" "00113229" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113230" "" "" "" "1" "" "02152" "Grompe 1991" "" "" "" "" "" "0" "" "" "" "" "00113231" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113232" "" "" "" "1" "" "02152" "Grompe 1991" "" "" "" "" "" "0" "" "" "" "" "00113233" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113234" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113235" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "" "" "" "" "0" "" "" "" "" "00113236" "" "" "" "1" "" "02152" "{PMID:Tuchman 1992:1480464}" "" "" "" "" "" "0" "" "" "" "" "00113237" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113238" "" "" "" "1" "" "02152" "Bisanzi 2002" "" "F" "" "" "" "0" "" "" "" "" "00113239" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113240" "" "" "" "1" "" "02152" "Garcia_Perez 1995" "" "" "" "" "" "0" "" "" "" "" "00113241" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113242" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113243" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113244" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113245" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113246" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113247" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113248" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113249" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "" "" "" "" "0" "" "" "" "" "00113250" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113251" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113252" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113253" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113254" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113255" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113256" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "" "" "" "" "0" "" "" "" "" "00113257" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113258" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113259" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "F" "" "" "" "0" "" "" "" "" "00113260" "" "" "" "1" "" "02152" "Takanashi 2002" "" "F" "" "" "" "0" "" "" "" "" "00113261" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113262" "" "" "" "1" "" "02152" "Calvas 1998" "" "" "" "" "" "0" "" "" "" "" "00113263" "" "" "" "1" "" "02152" "Grompe 1991" "" "" "" "" "" "0" "" "" "" "" "00113264" "" "" "" "1" "" "02152" "Matsuura and Matsuda 1998" "" "" "" "" "" "0" "" "" "" "" "00113265" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994a:8019569}" "" "" "" "" "" "0" "" "" "" "" "00113266" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113267" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113268" "" "" "" "1" "" "02152" "Gilbert_Dussardier 1996" "" "" "" "" "" "0" "" "" "" "" "00113269" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113270" "" "" "" "1" "" "02152" "Matsuura 1994" "" "" "" "" "" "0" "" "" "" "" "00113271" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994b:7951259}" "" "" "" "" "" "0" "" "" "" "" "00113272" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113273" "" "" "" "1" "" "02152" "Strautnieks and Malcolm 1993" "" "" "" "" "" "0" "" "" "" "" "00113274" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113275" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113276" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113277" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "" "" "" "" "0" "" "" "" "" "00113278" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113279" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113280" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113281" "" "" "" "1" "" "02152" "{PMID:Carstens 1991:2035531}" "" "" "" "" "" "0" "" "" "" "" "00113282" "" "" "" "1" "" "02152" "{PMID:Maddalena 1988:2843770}" "" "M" "" "" "" "0" "" "" "" "" "00113283" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00113284" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113285" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113286" "" "" "" "1" "" "02152" "Bisanzi 2002" "" "" "" "" "" "0" "" "" "" "" "00113287" "" "" "" "1" "" "02152" "Gyato 2004" "" "" "" "" "" "0" "" "" "" "" "00113288" "" "" "" "1" "" "02152" "{PMID:Tuchman 1992:1480464}" "" "" "" "" "" "0" "" "" "" "" "00113289" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113290" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113291" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113292" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113293" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113294" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113295" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113296" "" "" "" "1" "" "02152" "{PMID:Hata 1989:2741942}; {OMIM300461:0003}" "" "F" "" "" "" "0" "" "" "" "" "00113297" "" "" "" "1" "" "02152" "{PMID:Maddalena 1988:3170748}; {OMIM300461:0003}" "" "F" "" "" "" "0" "" "" "" "" "00113298" "" "" "" "2" "" "02152" "{PMID:Maddalena 1988:3170748}; {PMID:Lee and Nussbaum 1989:2556444}; {OMIM300461:0002}" "2 unrelated patients" "M" "" "" "" "0" "" "" "" "" "00113299" "" "" "" "1" "" "02152" "{PMID:Strautnieks 1991:1757964}; {PMID:Lee and Nussbaum 1989:2556444}" "" "F" "" "" "" "0" "" "" "" "" "00113300" "" "" "" "1" "" "02152" "{PMID:Suess 1992:1627356}; {PMID:Lee and Nussbaum 1989:2556444}" "" "M" "" "" "" "0" "" "" "" "" "00113301" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113302" "" "" "" "1" "" "02152" "{PMID:Yoo 1998:9610619}; {PMID:Kim 2006:17041896}" "3 patients; mother asymptomatic carrier" "M" "" "Korea" "" "0" "" "" "" "" "00113303" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113304" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113305" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113306" "" "" "" "1" "" "02152" "Plante and Tuchman1998" "" "" "" "" "" "0" "" "" "" "" "00113307" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "F" "" "" "" "0" "" "" "" "" "00113308" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113309" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113310" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "F" "" "" "" "0" "" "" "" "" "00113311" "" "" "" "1" "" "02152" "Komaki 1997" "" "F" "" "" "" "0" "" "" "" "" "00113312" "" "" "" "1" "" "02152" "Matsuura and Matsuda 1998" "" "F" "" "" "" "0" "" "" "" "" "00113313" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113314" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113315" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113316" "" "" "" "1" "" "02152" "Kogo 1998" "" "" "" "" "" "0" "" "" "" "" "00113317" "" "" "" "1" "" "02152" "Grompe 1989" "" "" "" "" "" "0" "" "" "" "" "00113318" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113319" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113320" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113321" "" "" "" "1" "" "02152" "Garcia_Perez 1995" "" "" "" "" "" "0" "" "" "" "" "00113322" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113323" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113324" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "F" "" "" "" "0" "" "" "" "" "00113325" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113326" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "" "" "" "" "0" "" "" "" "" "00113327" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113328" "" "" "" "1" "" "02152" "Takanashi 2002" "" "F" "" "" "" "0" "" "" "" "" "00113329" "" "" "" "1" "" "02152" "Feldmann 1992" "" "" "" "" "" "0" "" "" "" "" "00113330" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113331" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113332" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113333" "" "" "" "1" "" "02152" "Matsuda and Tanase1997" "" "F" "" "" "" "0" "" "" "" "" "00113334" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113335" "" "" "" "1" "" "02152" "Garcia_Perez 1995" "" "" "" "" "" "0" "" "" "" "" "00113336" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113337" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113338" "" "" "" "1" "" "02152" "Vella 1996" "" "F" "" "" "" "0" "" "" "" "" "00113339" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113340" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113341" "" "" "" "1" "" "02152" "" "" "M" "" "" "" "0" "" "" "" "" "00113342" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113344" "" "" "" "1" "" "02152" "Matsuura 1994" "" "" "" "" "" "0" "" "" "" "" "00113345" "" "" "" "1" "" "02152" "Tsai 1993" "" "F" "" "" "" "0" "" "" "" "" "00113346" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113347" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113348" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113349" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1996b" "" "" "" "" "" "0" "" "" "" "" "00113350" "" "" "" "1" "" "02152" "Gilbert_Dussardier 1996" "" "" "" "" "" "0" "" "" "" "" "00113351" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113352" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1995" "" "" "" "" "" "0" "" "" "" "" "00113353" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113354" "" "" "" "1" "" "02152" "Hbler 2001" "" "" "" "" "" "0" "" "" "" "" "00113355" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113356" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1996a" "" "" "" "" "" "0" "" "" "" "" "00113357" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113358" "" "" "" "1" "" "02152" "Matsuura 1995" "" "" "" "" "" "0" "" "" "" "" "00113359" "" "" "" "1" "" "00006" "{PMID:Engel 2008:18440262}" "mother carrier" "M" "" "South Africa" "" "0" "" "" "" "" "00113360" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113361" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "" "" "" "" "0" "" "" "" "" "00113362" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994a:8019569}" "" "" "" "" "" "0" "" "" "" "" "00113363" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113364" "" "" "" "1" "" "02152" "Reish 1993" "" "" "" "" "" "0" "" "" "" "" "00113365" "" "" "" "1" "" "02152" "Gilbert_Dussardier 1996" "" "" "" "" "" "0" "" "" "" "" "00113366" "" "" "" "1" "" "02152" "Climent 1999" "" "F" "" "" "" "0" "" "" "" "" "00113368" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113369" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113370" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113371" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113372" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113373" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113374" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113375" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113376" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994b:7951259}" "" "" "" "" "" "0" "" "" "" "" "00113377" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113378" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "" "" "" "" "0" "" "" "" "" "00113379" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "F" "" "" "" "0" "" "" "" "" "00113380" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113381" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "" "" "" "" "0" "" "" "" "" "00113382" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113383" "" "" "" "1" "" "02152" "Climent 1999" "" "F" "" "" "" "0" "" "" "" "" "00113384" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "F" "" "" "" "0" "" "" "" "" "00113385" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113386" "" "" "" "1" "" "02152" "Popowska 1999" "" "F" "" "" "" "0" "" "" "" "" "00113387" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113388" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113389" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994b:7951259}" "" "" "" "" "" "0" "" "" "" "" "00113390" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113391" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113392" "" "" "" "1" "" "02152" "Staudt 1998" "" "F" "" "" "" "0" "" "" "" "" "00113393" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994a:8019569}" "" "F" "" "" "" "0" "" "" "" "" "00113394" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113395" "" "" "" "1" "" "02152" "{PMID:Yoo 1998:9610619}; {PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113396" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113397" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113398" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "F" "" "" "" "0" "" "" "" "" "00113399" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113400" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113401" "" "" "" "1" "" "02152" "van Diggelen 1996" "" "" "" "" "" "0" "" "" "" "" "00113402" "" "" "" "1" "" "02152" "Garcia_Perez 1995" "" "" "" "" "" "0" "" "" "" "" "00113403" "" "" "" "1" "" "02152" "Valik 2004" "" "F" "" "" "" "0" "" "" "" "" "00113404" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113405" "" "" "" "1" "" "02152" "{PMID:Yoo 1996:8830175}; {PMID:Yoo 1998:9610619}; {PMID:Kim 2006:17041896}" "mother asymptomatic carrier" "M" "" "Korea" "" "0" "" "" "" "" "00113406" "" "" "" "1" "" "02152" "Ueta 2001" "" "F" "" "" "" "0" "" "" "" "" "00113407" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994a:8019569}" "" "" "" "" "" "0" "" "" "" "" "00113408" "" "" "" "1" "" "02152" "Grompe 1989" "" "" "" "" "" "0" "" "" "" "" "00113409" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113410" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1996b" "" "" "" "" "" "0" "" "" "" "" "00113411" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113412" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113413" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113414" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113415" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113416" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1996a" "" "F" "" "" "" "0" "" "" "" "" "00113417" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "F" "" "" "" "0" "" "" "" "" "00113418" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113419" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113420" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113421" "" "" "" "1" "" "02152" "{PMID:Suess 1992:1627356}" "" "M" "" "" "" "0" "" "" "" "" "00113422" "" "" "" "1" "" "02152" "{PMID:Leguis 1990:2208768}, {OMIM300461:0001}" "" "M" "" "" "" "0" "" "" "" "" "00113423" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994b:7951259}" "" "" "" "" "" "0" "" "" "" "" "00113424" "" "" "" "1" "" "02152" "Garcia_Perez 1997" "" "" "" "" "" "0" "" "" "" "" "00113425" "" "" "" "1" "" "02152" "Hentzen 1991" "" "" "" "" "" "0" "" "" "" "" "00113426" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113427" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113428" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "F" "" "Korea" "" "0" "" "" "" "" "00113429" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113430" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113431" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113432" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113433" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113434" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113435" "" "" "" "1" "" "02152" "{PMID:Carstens 1991:2035531}" "" "" "" "" "" "0" "" "" "" "" "00113436" "" "" "" "1" "" "02152" "{PMID:Carstens 1991:2035531}" "" "" "" "" "" "0" "" "" "" "" "00113437" "" "" "" "1" "" "02152" "Calvas 1998" "" "" "" "" "" "0" "" "" "" "" "00113438" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113439" "" "" "" "1" "" "02152" "Popowska 1999" "" "F" "" "" "" "0" "" "" "" "" "00113440" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113441" "" "" "" "1" "" "02152" "Calvas 1998" "" "" "" "" "" "0" "" "" "" "" "00113442" "" "" "" "1" "" "02152" "Calvas 1998" "" "F" "" "" "" "0" "" "" "" "" "00113443" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "" "" "" "" "0" "" "" "" "" "00113444" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113445" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113446" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113447" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113448" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "F" "" "" "" "0" "" "" "" "" "00113449" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113450" "" "" "" "1" "" "02152" "Giorgi 2000" "" "" "" "" "" "0" "" "" "" "" "00113451" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "history not known" "" "" "" "" "0" "" "" "" "" "00113452" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113453" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "F" "" "" "" "0" "" "" "" "" "00113454" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113455" "" "" "" "1" "" "02152" "Hwu 2003" "" "" "" "" "" "0" "" "" "" "" "00113456" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "" "" "" "" "0" "" "" "" "" "00113457" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113458" "" "" "" "1" "" "02152" "Giorgi 2000" "" "" "" "" "" "0" "" "" "" "" "00113459" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113460" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113461" "" "" "" "1" "" "02152" "{PMID:Shimadzu 1998:9452024}" "" "F" "" "" "" "0" "" "" "" "" "00113462" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113463" "" "" "" "1" "" "02152" "Zimmer 1995" "" "" "" "" "" "0" "" "" "" "" "00113464" "" "" "" "1" "" "02152" "{PMID:McCullough 2000:10946359}" "" "" "" "" "" "0" "" "" "" "" "00113465" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113466" "" "" "" "1" "" "02152" "{PMID:Tuchman 1992:1480464}" "" "" "" "" "" "0" "" "" "" "" "00113467" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113468" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113469" "" "" "" "7" "" "00006" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00113470" "" "" "" "1" "" "02152" "Khoo 1999" "" "" "" "" "" "0" "" "" "" "" "00113471" "" "" "" "1" "" "02152" "Segues 1996" "" "" "" "" "" "0" "" "" "" "" "00113472" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113473" "" "" "" "1" "" "02152" "Finkelstein 1990a" "" "" "" "" "" "0" "" "" "" "" "00113474" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113475" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994b:7951259}" "" "" "" "" "" "0" "" "" "" "" "00113476" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113477" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113478" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113479" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113480" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113481" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "" "" "0" "" "" "" "" "00113482" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "M" "" "" "" "0" "" "" "" "" "00113483" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113484" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "" "" "" "" "0" "" "" "" "" "00113485" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1996a" "" "" "" "" "" "0" "" "" "" "" "00113486" "" "" "" "1" "" "02152" "{PMID:Azevedo 2002:12175783}" "" "" "" "" "" "0" "" "" "" "" "00113487" "" "" "" "1" "" "00006" "{PMID:Engel 2008:18440262}" "mother carrier" "M" "" "Turkey" "" "0" "" "" "" "" "00113488" "" "" "" "1" "" "02152" "{PMID:Suess 1992:1627356}" "" "M" "" "" "" "0" "" "" "" "" "00113489" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113490" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113491" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "United States" "" "0" "" "" "" "" "00113492" "" "" "" "1" "" "00006" "{PMID:Mitchell 2009:18666241}" "" "" "" "" "" "0" "" "" "" "" "00113493" "" "" "" "1" "" "02152" "Reish 1993" "" "" "" "" "" "0" "" "" "" "" "00113494" "" "" "" "1" "" "02152" "Yamanouchi 2002" "" "" "" "" "" "0" "" "" "" "" "00113495" "" "" "" "1" "" "02152" "Schimanski 1996" "" "F" "" "" "" "0" "" "" "" "" "00113496" "" "" "" "1" "" "02152" "Ensenauer 2005" "" "" "" "" "" "0" "" "" "" "" "00113497" "" "" "" "1" "" "02152" "" "" "F" "" "" "" "0" "" "" "" "" "00113498" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "" "" "" "" "0" "" "" "" "" "00113499" "" "" "" "1" "" "02152" "Oppliger Leibundgut 1996b" "" "" "" "" "" "0" "" "" "" "" "00113500" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "" "" "" "" "0" "" "" "" "" "00113501" "" "" "" "1" "" "02152" "Gilbert_Dussardier 1996" "" "F" "" "" "" "0" "" "" "" "" "00113502" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113503" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113504" "" "" "" "1" "" "02152" "Calvas 1998" "" "" "" "" "" "0" "" "" "" "" "00113505" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113506" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113507" "" "" "" "1" "" "02152" "{PMID:Tuchman 1992:1480464}" "" "" "" "" "" "0" "" "" "" "" "00113508" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "F" "" "" "" "0" "" "" "" "" "00113509" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113510" "" "" "" "1" "" "02152" "Reish 1993" "" "" "" "" "" "0" "" "" "" "" "00113511" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113512" "" "" "" "1" "" "02152" "{PMID:Tuchman 1994b:7951259}" "" "" "" "" "" "0" "" "" "" "" "00113513" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113514" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113515" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113516" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113517" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113518" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "F" "" "" "" "0" "" "" "" "" "00113519" "" "" "" "1" "" "02152" "{PMID:Genet 2000:11117428}" "" "F" "" "" "" "0" "" "" "" "" "00113520" "" "" "" "1" "" "02152" "{PMID:Yoo 1996:8830175}; {PMID:Yoo 1998:9610619}; {PMID:Kim 2006:17041896}" "symptomatic with asymptomatic carrier mother and aunt, three affected uncles" "F" "" "Japan" "" "0" "" "" "" "" "00113521" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113522" "" "" "" "1" "" "02152" "Grompe 1991" "" "" "" "" "" "0" "" "" "" "" "00113523" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113524" "" "" "" "1" "" "02152" "{PMID:Kim 2006:17041896}" "" "M" "" "Korea" "" "0" "" "" "" "" "00113525" "" "" "" "1" "" "02152" "Popowska 1999" "" "F" "" "" "" "0" "" "" "" "" "00113526" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113527" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "F" "" "" "" "0" "" "" "" "" "00113528" "" "" "" "1" "" "02152" "Climent and Rubio 2002b" "" "F" "" "" "" "0" "" "" "" "" "00113529" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "F" "" "" "" "0" "" "" "" "" "00113530" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113531" "" "" "" "1" "" "02152" "Rapp 2001" "" "" "" "" "" "0" "" "" "" "" "00113532" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113533" "" "" "" "1" "" "02152" "Matsuura 1994" "" "" "" "" "" "0" "" "" "" "" "00113534" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "" "" "" "" "0" "" "" "" "" "00113535" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113536" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113537" "" "" "" "1" "" "02152" "{PMID:Tuchman 2002:11793468}" "" "" "" "" "" "0" "" "" "" "" "00113538" "" "" "" "1" "" "00006" "{PMID:Engel 2008:18440262}" "mother carrier" "M" "" "Germany" "" "0" "" "" "" "" "00113539" "" "" "" "1" "" "02152" "Matsuura 1993" "" "" "" "" "" "0" "" "" "" "" "00113540" "" "" "" "1" "" "02152" "{PMID:Climent and Rubio 2002:11793483}" "" "" "" "" "" "0" "" "" "" "" "00113541" "" "" "" "1" "" "02152" "Gyato 2004" "" "" "" "" "" "0" "" "" "" "" "00113542" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "" "" "" "" "0" "" "" "" "" "00113543" "" "" "" "1" "" "02152" "Matsuda and Tanase 1997; Rohininath 2004" "" "" "" "" "" "0" "" "" "" "" "00113544" "" "" "" "1" "" "02152" "{PMID:Tuchman 1997:9266388}" "" "" "" "" "" "0" "" "" "" "" "00113545" "" "" "" "1" "" "02152" "" "" "" "" "" "" "0" "" "" "" "" "00113546" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113548" "" "" "" "1" "" "02152" "{PMID:Tuchman and Plante 1995:7627182}" "" "F" "" "" "" "0" "" "" "" "" "00113549" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "" "" "0" "" "" "" "" "00113550" "" "" "" "1" "" "02152" "{PMID:Tuchman 1992:1480464}" "" "F" "" "" "" "0" "" "" "" "" "00113551" "" "" "" "1" "" "02152" "{PMID:Tuchman 1998:9686344}" "" "" "" "" "" "0" "" "" "" "" "00113552" "" "" "" "1" "" "02152" "{PMID:Yamaguchi 2006:16786505}" "" "F" "" "" "" "0" "" "" "" "" "00113553" "" "" "" "1" "" "02152" "{PMID:Oppliger Leibundgut 1997:9143919}" "" "F" "" "" "" "0" "" "" "" "" "00113554" "" "" "" "1" "" "02152" "Myers and Shook1996" "" "" "" "" "" "0" "" "" "" "" "00181046" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00207890" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat45" "00248289" "" "" "" "2" "" "00006" "{PMID:Haberle 2004:15164414}" "prenatal diagnosis, not affected and heterozgous fetus" "" "" "Germany" "" "0" "" "" "" "Fam7" "00295057" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295058" "" "" "" "82" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295233" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295234" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305303" "" "" "" "78" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305333" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305894" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "9" "00305916" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "25" "00305932" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "30" "00306197" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "95" "00309847" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M003" "00377061" "" "" "" "1" "cc_by-nc-nd_4.0;0" "02762" "" "" "M" "?" "" "0" "" "" "" "" "" "00392913" "" "" "" "1" "" "00000" "{PMID:Bergant 2021:33807868}" "" "" "" "Italy" "" "0" "" "" "" "P11" "00431549" "" "" "" "1" "" "00006" "{PMID:Yamada 2010:20813210}" "" "M" "no" "Japan" "" "0" "" "" "" "Pat1" "00450350" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat4" "00450351" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat5" "00450352" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat7" "00450353" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat8" "00450354" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat10" "00450355" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat11" "00450356" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat12" "00450357" "" "" "" "1" "" "00006" "{PMID:Arranz 2007:17334707}, {PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "?;Pat13" "00450358" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat14" "00450359" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat16" "00450360" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat20" "00450361" "" "" "" "2" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "family, 2 affected relatives" "M" "" "Spain" "" "0" "" "" "" "Pat21" "00450362" "" "" "00450361" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "relative" "M" "" "Spain" "" "0" "" "" "" "Pat25" "00450363" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat22" "00450364" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat27" "00450365" "" "" "" "2" "" "00006" "{PMID:Garcia-Perez 1995:7860064}, {PMID:Martin-Hernandez 2014:25433810}" "family, 2 affected relatives" "F" "" "Spain" "" "0" "" "" "" "?;Pat32" "00450366" "" "" "00450365" "1" "" "00006" "{PMID:Garcia-Perez 1995:7860064}, {PMID:Martin-Hernandez 2014:25433810}" "relative" "M" "" "Spain" "" "0" "" "" "" "?;Pat51" "00450367" "" "" "" "1" "" "00006" "{PMID:Climent 1999:10502831}, {PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "?;Pat33" "00450368" "" "" "" "1" "" "00006" "{PMID:Climent 1999:10502831}, {PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "?;Pat36" "00450369" "" "" "" "2" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "family, 2 affected relatives" "F" "" "Spain" "" "0" "" "" "" "Pat37" "00450370" "" "" "00450369" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "relative" "F" "" "Spain" "" "0" "" "" "" "Pat75" "00450371" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat38" "00450372" "" "" "" "1" "" "00006" "{PMID:Arranz 2007:17334707}, {PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "?;Pat40" "00450373" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat45" "00450374" "" "" "" "1" "" "00006" "{PMID:Garcia-Perez 1995:7860064}, {PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "?;Pat48" "00450375" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat49" "00450376" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat50" "00450377" "" "" "" "1" "" "00006" "{PMID:Climent 1999:10502831}, {PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "?;Pat52" "00450378" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat53" "00450379" "" "" "" "1" "" "00006" "{PMID:Climent 2002:11793483}, {PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "?;Pat54" "00450380" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat55" "00450381" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat56" "00450382" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat59" "00450383" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat60" "00450384" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat68" "00450385" "" "" "" "1" "" "00006" "{PMID:Climent 2002:11793483}, {PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "?;Pat69" "00450386" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat72" "00450387" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat73" "00450388" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat74" "00450389" "" "" "" "2" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "family, 2 affected relatives" "M" "" "Spain" "" "0" "" "" "" "Pat76" "00450390" "" "" "00450389" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "relative" "M" "" "Spain" "" "0" "" "" "" "Pat77" "00450391" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat79" "00450392" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat80" "00450393" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat82" "00450394" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat83" "00450395" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat88" "00450396" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat91" "00450397" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat94" "00450398" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat95" "00450399" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "M" "" "Spain" "" "0" "" "" "" "Pat97" "00450400" "" "" "" "1" "" "00006" "{PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "Pat100" "00450401" "" "" "" "1" "" "00006" "{PMID:Arranz 2007:17334707}, {PMID:Martin-Hernandez 2014:25433810}" "" "F" "" "Spain" "" "0" "" "" "" "?;Pat103" "00451463" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "" "F" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-043" "00451596" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Familial case (brother affected: died at 15y)" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-048" "00452261" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452277" "" "" "" "5" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 5 affected" "F" "" "Argentina" "" "0" "" "" "" "FamIPat1" "00452278" "" "" "" "2" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 2 affected" "M" "" "Argentina" "" "0" "" "" "" "FamIIPat6" "00452279" "" "" "" "2" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 2 affected" "M" "" "Argentina" "" "0" "" "" "" "FamIIIPat8" "00452280" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "F" "" "Argentina" "" "0" "" "" "" "FamIVPat10" "00452281" "" "" "" "2" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 2 affected" "M" "" "Argentina" "" "0" "" "" "" "FamIXPat19" "00452282" "" "" "" "3" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 3 affected" "F" "" "Argentina" "" "0" "" "" "" "FamVPat11" "00452283" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "F" "" "Argentina" "" "0" "" "" "" "FamVIPat14" "00452284" "" "" "" "2" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 2 affected" "M" "" "Argentina" "" "0" "" "" "" "FamVIIPat15" "00452285" "" "" "" "2" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 2 affected" "M" "" "Argentina" "" "0" "" "" "" "FamVIIIPat17" "00452286" "" "" "" "1" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "" "F" "" "Argentina" "" "0" "" "" "" "FamXPat21" "00452287" "" "" "" "3" "" "00006" "{PMID:Silvera-Ruiz 2019:31426867}" "family, 3 affected" "M" "" "Argentina" "" "0" "" "" "" "FamXIPat22" "00453639" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat55" "00466216" "" "" "" "1" "" "00006" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "Pat6" "00467348" "" "" "" "1" "" "00006" "{PMID:Tong 2018:29581464}" "patient" "M" "" "China" "" "0" "" "" "" "Pat_11" "00467351" "" "" "" "1" "" "00006" "{PMID:Tong 2018:29581464}" "patient" "M" "" "China" "" "0" "" "" "" "Pat_18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 532 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00113109" "00198" "00113110" "00198" "00113111" "00198" "00113112" "00198" "00113113" "00198" "00113114" "00198" "00113115" "00198" "00113116" "00198" "00113117" "00198" "00113118" "00198" "00113119" "00198" "00113120" "00198" "00113121" "00198" "00113122" "00198" "00113123" "02256" "00113124" "00198" "00113125" "00198" "00113126" "00198" "00113127" "00198" "00113128" "00198" "00113129" "00198" "00113130" "00198" "00113131" "00198" "00113132" "02256" "00113133" "02256" "00113134" "02256" "00113135" "02256" "00113136" "02256" "00113137" "02256" "00113138" "02256" "00113139" "02256" "00113140" "02256" "00113141" "02256" "00113142" "02256" "00113143" "02256" "00113144" "02256" "00113145" "00198" "00113146" "02256" "00113147" "00198" "00113148" "00198" "00113149" "02256" "00113150" "02256" "00113151" "02256" "00113152" "02256" "00113153" "02256" "00113154" "02256" "00113155" "02256" "00113156" "02256" "00113157" "02256" "00113158" "02256" "00113159" "02256" "00113160" "02256" "00113161" "02256" "00113162" "02256" "00113163" "02256" "00113164" "02256" "00113165" "02256" "00113166" "02256" "00113167" "02256" "00113168" "02256" "00113169" "02256" "00113170" "02256" "00113171" "02256" "00113172" "02256" "00113173" "02256" "00113174" "02256" "00113175" "00198" "00113176" "00198" "00113177" "02256" "00113178" "00198" "00113179" "00198" "00113180" "00198" "00113181" "00198" "00113182" "02256" "00113183" "00198" "00113184" "00187" "00113185" "02256" "00113186" "02256" "00113187" "02256" "00113188" "02256" "00113189" "02256" "00113190" "02256" "00113191" "02256" "00113192" "02256" "00113193" "02256" "00113194" "02256" "00113195" "02256" "00113196" "02256" "00113197" "02256" "00113198" "02256" "00113199" "02256" "00113200" "02256" "00113201" "02256" "00113202" "02256" "00113203" "02256" "00113204" "02256" "00113205" "02256" "00113207" "02256" "00113208" "02256" "00113209" "00198" "00113210" "02256" "00113211" "02256" "00113212" "02256" "00113213" "02256" "00113214" "02256" "00113215" "00198" "00113216" "02256" "00113217" "02256" "00113218" "02256" "00113219" "02256" "00113220" "02256" "00113221" "02256" "00113222" "02256" "00113223" "02256" "00113224" "02256" "00113225" "02256" "00113226" "02256" "00113227" "02256" "00113228" "02256" "00113229" "02256" "00113230" "02256" "00113231" "02256" "00113232" "02256" "00113233" "02256" "00113234" "02256" "00113235" "02256" "00113236" "02256" "00113237" "02256" "00113238" "02256" "00113239" "02256" "00113240" "02256" "00113241" "02256" "00113242" "02256" "00113243" "02256" "00113244" "00198" "00113245" "00198" "00113246" "00198" "00113247" "00198" "00113248" "02256" "00113249" "00198" "00113250" "00198" "00113251" "00198" "00113252" "00198" "00113253" "00198" "00113254" "02256" "00113255" "02256" "00113256" "00198" "00113257" "02256" "00113258" "02256" "00113259" "02256" "00113260" "02256" "00113261" "02256" "00113262" "02256" "00113263" "00198" "00113264" "02256" "00113265" "02256" "00113266" "02256" "00113267" "02256" "00113268" "02256" "00113269" "02256" "00113270" "02256" "00113271" "02256" "00113272" "02256" "00113273" "02256" "00113274" "02256" "00113275" "02256" "00113276" "02256" "00113277" "00198" "00113278" "00198" "00113279" "02256" "00113280" "02256" "00113281" "02256" "00113282" "02256" "00113283" "00187" "00113284" "02256" "00113285" "02256" "00113286" "02256" "00113287" "02256" "00113288" "02256" "00113289" "02256" "00113290" "02256" "00113291" "02256" "00113292" "02256" "00113293" "02256" "00113294" "02256" "00113295" "02256" "00113296" "02256" "00113297" "02256" "00113298" "02256" "00113299" "02256" "00113300" "02256" "00113301" "02256" "00113302" "02256" "00113303" "02256" "00113304" "02256" "00113305" "02256" "00113306" "00198" "00113307" "02256" "00113308" "02256" "00113309" "02256" "00113310" "02256" "00113311" "02256" "00113312" "02256" "00113313" "02256" "00113314" "02256" "00113315" "00198" "00113316" "02256" "00113317" "02256" "00113318" "02256" "00113319" "02256" "00113320" "02256" "00113321" "02256" "00113322" "02256" "00113323" "02256" "00113324" "02256" "00113325" "02256" "00113326" "02256" "00113327" "02256" "00113328" "02256" "00113329" "02256" "00113330" "02256" "00113331" "02256" "00113332" "02256" "00113333" "02256" "00113334" "02256" "00113335" "02256" "00113336" "02256" "00113337" "02256" "00113338" "02256" "00113339" "02256" "00113340" "02256" "00113341" "02256" "00113342" "02256" "00113344" "02256" "00113345" "02256" "00113346" "02256" "00113347" "02256" "00113348" "02256" "00113349" "02256" "00113350" "02256" "00113351" "02256" "00113352" "02256" "00113353" "02256" "00113354" "02256" "00113355" "02256" "00113356" "02256" "00113357" "02256" "00113358" "02256" "00113359" "02256" "00113360" "02256" "00113361" "02256" "00113362" "02256" "00113363" "02256" "00113364" "02256" "00113365" "02256" "00113366" "02256" "00113368" "02256" "00113369" "02256" "00113370" "02256" "00113371" "02256" "00113372" "02256" "00113373" "02256" "00113374" "00198" "00113375" "00198" "00113376" "02256" "00113377" "02256" "00113378" "00198" "00113379" "02256" "00113380" "02256" "00113381" "02256" "00113382" "02256" "00113383" "02256" "00113384" "02256" "00113385" "02256" "00113386" "02256" "00113387" "02256" "00113388" "02256" "00113389" "02256" "00113390" "02256" "00113391" "02256" "00113392" "02256" "00113393" "02256" "00113394" "02256" "00113395" "02256" "00113396" "02256" "00113397" "02256" "00113398" "02256" "00113399" "02256" "00113400" "02256" "00113401" "02256" "00113402" "02256" "00113403" "02256" "00113404" "02256" "00113405" "02256" "00113406" "02256" "00113407" "02256" "00113408" "02256" "00113409" "02256" "00113410" "02256" "00113411" "02256" "00113412" "02256" "00113413" "02256" "00113414" "02256" "00113415" "02256" "00113416" "02256" "00113417" "02256" "00113418" "02256" "00113419" "02256" "00113420" "02256" "00113421" "02256" "00113422" "02256" "00113423" "02256" "00113424" "02256" "00113425" "02256" "00113426" "02256" "00113427" "02256" "00113428" "02256" "00113429" "02256" "00113430" "02256" "00113431" "02256" "00113432" "02256" "00113433" "02256" "00113434" "02256" "00113435" "02256" "00113436" "02256" "00113437" "02256" "00113438" "02256" "00113439" "02256" "00113440" "02256" "00113441" "02256" "00113442" "02256" "00113443" "02256" "00113444" "02256" "00113445" "02256" "00113446" "02256" "00113447" "02256" "00113448" "02256" "00113449" "02256" "00113450" "02256" "00113451" "02256" "00113452" "02256" "00113453" "02256" "00113454" "02256" "00113455" "02256" "00113456" "02256" "00113457" "02256" "00113458" "02256" "00113459" "02256" "00113460" "02256" "00113461" "02256" "00113462" "02256" "00113463" "02256" "00113464" "02256" "00113465" "02256" "00113466" "00198" "00113467" "00198" "00113468" "00198" "00113469" "00187" "00113470" "02256" "00113471" "02256" "00113472" "02256" "00113473" "02256" "00113474" "02256" "00113475" "02256" "00113476" "02256" "00113477" "02256" "00113478" "00198" "00113479" "02256" "00113480" "02256" "00113481" "00198" "00113482" "00187" "00113483" "02256" "00113484" "02256" "00113485" "02256" "00113486" "00198" "00113487" "02256" "00113488" "02256" "00113489" "02256" "00113490" "02256" "00113491" "00198" "00113492" "00198" "00113493" "02256" "00113494" "02256" "00113495" "02256" "00113496" "02256" "00113497" "02256" "00113498" "02256" "00113499" "02256" "00113500" "02256" "00113501" "02256" "00113502" "02256" "00113503" "02256" "00113504" "02256" "00113505" "02256" "00113506" "02256" "00113507" "02256" "00113508" "02256" "00113509" "02256" "00113510" "02256" "00113511" "02256" "00113512" "02256" "00113513" "02256" "00113514" "02256" "00113515" "02256" "00113516" "02256" "00113517" "02256" "00113518" "02256" "00113519" "02256" "00113520" "02256" "00113521" "02256" "00113522" "02256" "00113523" "02256" "00113524" "02256" "00113525" "02256" "00113526" "02256" "00113527" "02256" "00113528" "02256" "00113529" "02256" "00113530" "02256" "00113531" "02256" "00113532" "02256" "00113533" "02256" "00113534" "00198" "00113535" "02256" "00113536" "02256" "00113537" "02256" "00113538" "02256" "00113539" "00198" "00113540" "02256" "00113541" "02256" "00113542" "02256" "00113543" "02256" "00113544" "02256" "00113545" "02256" "00113546" "02256" "00113548" "02256" "00113549" "02256" "00113550" "02256" "00113551" "02256" "00113552" "02256" "00113553" "02256" "00113554" "02256" "00181046" "02256" "00207890" "00198" "00248289" "02256" "00295057" "00198" "00295058" "00198" "00295233" "00198" "00295234" "00198" "00305303" "00198" "00305333" "00198" "00305894" "02256" "00305916" "02256" "00305932" "02256" "00306197" "02256" "00309847" "00221" "00309847" "02256" "00377061" "02256" "00392913" "04214" "00431549" "00198" "00450350" "00198" "00450351" "00198" "00450352" "00198" "00450353" "00198" "00450354" "00198" "00450355" "00198" "00450356" "00198" "00450357" "00198" "00450358" "00198" "00450359" "00198" "00450360" "00198" "00450361" "00198" "00450362" "00198" "00450363" "00198" "00450364" "00198" "00450365" "00198" "00450366" "00198" "00450367" "00198" "00450368" "00198" "00450369" "00198" "00450370" "00198" "00450371" "00198" "00450372" "00198" "00450373" "00198" "00450374" "00198" "00450375" "00198" "00450376" "00198" "00450377" "00198" "00450378" "00198" "00450379" "00198" "00450380" "00198" "00450381" "00198" "00450382" "00198" "00450383" "00198" "00450384" "00198" "00450385" "00198" "00450386" "00198" "00450387" "00198" "00450388" "00198" "00450389" "00198" "00450390" "00198" "00450391" "00198" "00450392" "00198" "00450393" "00198" "00450394" "00198" "00450395" "00198" "00450396" "00198" "00450397" "00198" "00450398" "00198" "00450399" "00198" "00450400" "00198" "00450401" "00198" "00451463" "02256" "00451596" "02256" "00452261" "00198" "00452277" "00198" "00452278" "00198" "00452279" "00198" "00452280" "00198" "00452281" "00198" "00452282" "00198" "00452283" "00198" "00452284" "00198" "00452285" "00198" "00452286" "00198" "00452287" "00198" "00453639" "02554" "00466216" "00198" "00467348" "05611" "00467351" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00221, 01157, 02256, 02554, 04214, 05611 ## Count = 527 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000088591" "00198" "00113109" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088592" "00198" "00113110" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088593" "00198" "00113111" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088594" "00198" "00113112" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088595" "00198" "00113113" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088596" "00198" "00113114" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088597" "00198" "00113115" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088598" "00198" "00113116" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088599" "00198" "00113117" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088600" "00198" "00113118" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088601" "00198" "00113119" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088602" "00198" "00113120" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088603" "00198" "00113121" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088604" "00198" "00113122" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088605" "02256" "00113123" "02173" "Familial, X-linked" "" "clinical symptoms compatible with OTCD, positive allopurinol test, normal plasma amino-acid profile" "" "" "" "" "" "" "" "" "" "" "" "" "0000088606" "00198" "00113124" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088607" "00198" "00113125" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088608" "00198" "00113126" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088609" "00198" "00113127" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088610" "00198" "00113128" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088611" "00198" "00113129" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088612" "00198" "00113130" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088613" "00198" "00113131" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088614" "02256" "00113132" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088615" "02256" "00113133" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088616" "02256" "00113134" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088617" "02256" "00113135" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088618" "02256" "00113136" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088619" "02256" "00113137" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088620" "02256" "00113138" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088621" "02256" "00113139" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088622" "02256" "00113140" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088623" "02256" "00113141" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088624" "02256" "00113142" "02152" "Unknown" "" "onset 2d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088625" "02256" "00113143" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088626" "02256" "00113144" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088627" "00198" "00113145" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088628" "02256" "00113146" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088629" "00198" "00113147" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088630" "00198" "00113148" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088631" "02256" "00113149" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088632" "02256" "00113150" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088633" "02256" "00113151" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088634" "02256" "00113152" "02152" "Unknown" "" "onset 5d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088635" "02256" "00113153" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088636" "02256" "00113154" "02152" "Unknown" "" "onset 1month" "" "" "" "" "" "" "" "" "" "" "" "" "0000088637" "02256" "00113155" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088638" "02256" "00113156" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088639" "02256" "00113157" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088640" "02256" "00113158" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088641" "02256" "00113159" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088642" "02256" "00113160" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088643" "02256" "00113161" "00006" "Unknown" "" "died on 4d" "02d" "" "" "" "" "" "" "" "" "" "" "" "0000088644" "02256" "00113162" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088645" "02256" "00113163" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088646" "02256" "00113164" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088647" "02256" "00113165" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088648" "02256" "00113166" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088649" "02256" "00113167" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088650" "02256" "00113168" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088651" "02256" "00113169" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088652" "02256" "00113170" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088653" "02256" "00113171" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088654" "02256" "00113172" "02152" "Unknown" "" "onset 2m" "" "" "" "" "" "" "" "" "" "" "" "" "0000088655" "02256" "00113173" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088656" "02256" "00113174" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088657" "00198" "00113175" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088658" "00198" "00113176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088659" "02256" "00113177" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088660" "00198" "00113178" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088661" "00198" "00113179" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088662" "00198" "00113180" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088663" "00198" "00113181" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088664" "02256" "00113182" "00006" "Unknown" "" "well after liver transplant; OTC 0.4" "02y06m" "" "" "" "" "" "" "" "" "" "" "" "0000088665" "00198" "00113183" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088666" "00187" "00113184" "00006" "Familial, X-linked" "" "mental retardation, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000088667" "02256" "00113185" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088668" "02256" "00113186" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088669" "02256" "00113187" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088670" "02256" "00113188" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088671" "02256" "00113189" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088672" "02256" "00113190" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088673" "02256" "00113191" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088674" "02256" "00113192" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088675" "02256" "00113193" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088676" "02256" "00113194" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088677" "02256" "00113195" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088678" "02256" "00113196" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088679" "02256" "00113197" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088680" "02256" "00113198" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088681" "02256" "00113199" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088682" "02256" "00113200" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088683" "02256" "00113201" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088684" "02256" "00113202" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088685" "02256" "00113203" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088686" "02256" "00113204" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088687" "02256" "00113205" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088689" "02256" "00113207" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088690" "02256" "00113208" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088691" "00198" "00113209" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088692" "02256" "00113210" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088693" "02256" "00113211" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088694" "02256" "00113212" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088695" "02256" "00113213" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088696" "02256" "00113214" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088697" "00198" "00113215" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088698" "02256" "00113216" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088699" "02256" "00113217" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088700" "02256" "00113218" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088701" "02256" "00113219" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088702" "02256" "00113220" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088703" "02256" "00113221" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088704" "02256" "00113222" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088705" "02256" "00113223" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088706" "02256" "00113224" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088707" "02256" "00113225" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088708" "02256" "00113226" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088709" "02256" "00113227" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088710" "02256" "00113228" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088711" "02256" "00113229" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088712" "02256" "00113230" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088713" "02256" "00113231" "02152" "Unknown" "" "onset 6d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088714" "02256" "00113232" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088715" "02256" "00113233" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088716" "02256" "00113234" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088717" "02256" "00113235" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088718" "02256" "00113236" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088719" "02256" "00113237" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088720" "02256" "00113238" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088721" "02256" "00113239" "02152" "Unknown" "" "onset 10m" "" "" "" "" "" "" "" "" "" "" "" "" "0000088722" "02256" "00113240" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088723" "02256" "00113241" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088724" "02256" "00113242" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088725" "02256" "00113243" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088726" "00198" "00113244" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088727" "00198" "00113245" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088728" "00198" "00113246" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088729" "00198" "00113247" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088730" "02256" "00113248" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088731" "00198" "00113249" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088732" "00198" "00113250" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088733" "00198" "00113251" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088734" "00198" "00113252" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088735" "00198" "00113253" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088736" "02256" "00113254" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088737" "02256" "00113255" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088738" "00198" "00113256" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088739" "02256" "00113257" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088740" "02256" "00113258" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088741" "02256" "00113259" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088742" "02256" "00113260" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088743" "02256" "00113261" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088744" "02256" "00113262" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088745" "00198" "00113263" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088746" "02256" "00113264" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088747" "02256" "00113265" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088748" "02256" "00113266" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088749" "02256" "00113267" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088750" "02256" "00113268" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088751" "02256" "00113269" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088752" "02256" "00113270" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088753" "02256" "00113271" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088754" "02256" "00113272" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088755" "02256" "00113273" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088756" "02256" "00113274" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088757" "02256" "00113275" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088758" "02256" "00113276" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088759" "00198" "00113277" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088760" "00198" "00113278" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088761" "02256" "00113279" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088762" "02256" "00113280" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088763" "02256" "00113281" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088764" "02256" "00113282" "02152" "Unknown" "" "late onset, mild" "" "" "" "" "" "" "" "" "" "" "" "" "0000088765" "00187" "00113283" "00006" "Unknown" "" "mental retardation, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000088766" "02256" "00113284" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088767" "02256" "00113285" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088768" "02256" "00113286" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088769" "02256" "00113287" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088770" "02256" "00113288" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088771" "02256" "00113289" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088772" "02256" "00113290" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088773" "02256" "00113291" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088774" "02256" "00113292" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088775" "02256" "00113293" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088776" "02256" "00113294" "02152" "Unknown" "" "onset 8m" "" "" "" "" "" "" "" "" "" "" "" "" "0000088777" "02256" "00113295" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088778" "02256" "00113296" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088779" "02256" "00113297" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088780" "02256" "00113298" "02152" "Familial, X-linked" "" "neonatal onset, severe" "" "" "" "" "" "" "" "" "" "" "" "" "0000088781" "02256" "00113299" "02152" "Unknown" "" "age onset 21m" "" "" "" "" "" "" "" "" "" "" "" "" "0000088782" "02256" "00113300" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088783" "02256" "00113301" "02152" "Unknown" "" "onset 7y" "" "" "" "" "" "" "" "" "" "" "" "" "0000088784" "02256" "00113302" "02152" "Familial, X-linked" "" "onset 3d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088785" "02256" "00113303" "02152" "Unknown" "" "onset 7d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088786" "02256" "00113304" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088787" "02256" "00113305" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088788" "00198" "00113306" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088789" "02256" "00113307" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088790" "02256" "00113308" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088791" "02256" "00113309" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088792" "02256" "00113310" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088793" "02256" "00113311" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088794" "02256" "00113312" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088795" "02256" "00113313" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088796" "02256" "00113314" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088797" "00198" "00113315" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088798" "02256" "00113316" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088799" "02256" "00113317" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088800" "02256" "00113318" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088801" "02256" "00113319" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088802" "02256" "00113320" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088803" "02256" "00113321" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088804" "02256" "00113322" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088805" "02256" "00113323" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088806" "02256" "00113324" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088807" "02256" "00113325" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088808" "02256" "00113326" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088809" "02256" "00113327" "02152" "Unknown" "" "onset 14y" "" "" "" "" "" "" "" "" "" "" "" "" "0000088810" "02256" "00113328" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088811" "02256" "00113329" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088812" "02256" "00113330" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088813" "02256" "00113331" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088814" "02256" "00113332" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088815" "02256" "00113333" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088816" "02256" "00113334" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088817" "02256" "00113335" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088818" "02256" "00113336" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088819" "02256" "00113337" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088820" "02256" "00113338" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088821" "02256" "00113339" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088822" "02256" "00113340" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088823" "02256" "00113341" "02152" "Isolated (sporadic)" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088824" "02256" "00113342" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088826" "02256" "00113344" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088827" "02256" "00113345" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088828" "02256" "00113346" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088829" "02256" "00113347" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088830" "02256" "00113348" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088831" "02256" "00113349" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088832" "02256" "00113350" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088833" "02256" "00113351" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088834" "02256" "00113352" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088835" "02256" "00113353" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088836" "02256" "00113354" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088837" "02256" "00113355" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088838" "02256" "00113356" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088839" "02256" "00113357" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088840" "02256" "00113358" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088841" "02256" "00113359" "00006" "Unknown" "" "severe MR; OTC 0.1" "07d" "" "" "" "" "" "" "" "" "" "" "" "0000088842" "02256" "00113360" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088843" "02256" "00113361" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088844" "02256" "00113362" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088845" "02256" "00113363" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088846" "02256" "00113364" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088847" "02256" "00113365" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088848" "02256" "00113366" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088850" "02256" "00113368" "02152" "Unknown" "" "onset 7d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088851" "02256" "00113369" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088852" "02256" "00113370" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088853" "02256" "00113371" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088854" "02256" "00113372" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088855" "02256" "00113373" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088856" "00198" "00113374" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088857" "00198" "00113375" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088858" "02256" "00113376" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088859" "02256" "00113377" "02152" "Unknown" "" "onset 12m" "" "" "" "" "" "" "" "" "" "" "" "" "0000088860" "00198" "00113378" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088861" "02256" "00113379" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088862" "02256" "00113380" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088863" "02256" "00113381" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088864" "02256" "00113382" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088865" "02256" "00113383" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088866" "02256" "00113384" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088867" "02256" "00113385" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088868" "02256" "00113386" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088869" "02256" "00113387" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088870" "02256" "00113388" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088871" "02256" "00113389" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088872" "02256" "00113390" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088873" "02256" "00113391" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088874" "02256" "00113392" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088875" "02256" "00113393" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088876" "02256" "00113394" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088877" "02256" "00113395" "02152" "Isolated (sporadic)" "" "onset 4d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088878" "02256" "00113396" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088879" "02256" "00113397" "02152" "Unknown" "" "onset 4y" "" "" "" "" "" "" "" "" "" "" "" "" "0000088880" "02256" "00113398" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088881" "02256" "00113399" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088882" "02256" "00113400" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088883" "02256" "00113401" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088884" "02256" "00113402" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088885" "02256" "00113403" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088886" "02256" "00113404" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088887" "02256" "00113405" "02152" "Unknown" "" "onset 4d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088888" "02256" "00113406" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088889" "02256" "00113407" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088890" "02256" "00113408" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088891" "02256" "00113409" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088892" "02256" "00113410" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088893" "02256" "00113411" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088894" "02256" "00113412" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088895" "02256" "00113413" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088896" "02256" "00113414" "02152" "Unknown" "" "onset 6y" "" "" "" "" "" "" "" "" "" "" "" "" "0000088897" "02256" "00113415" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088898" "02256" "00113416" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088899" "02256" "00113417" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088900" "02256" "00113418" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088901" "02256" "00113419" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088902" "02256" "00113420" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088903" "02256" "00113421" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088904" "02256" "00113422" "02152" "Unknown" "" "age at onset 8 m" "" "" "" "" "" "" "" "" "" "" "" "" "0000088905" "02256" "00113423" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088906" "02256" "00113424" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088907" "02256" "00113425" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088908" "02256" "00113426" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088909" "02256" "00113427" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088910" "02256" "00113428" "02152" "Unknown" "" "onset 2y" "" "" "" "" "" "" "" "" "" "" "" "" "0000088911" "02256" "00113429" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088912" "02256" "00113430" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088913" "02256" "00113431" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088914" "02256" "00113432" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088915" "02256" "00113433" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088916" "02256" "00113434" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088917" "02256" "00113435" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088918" "02256" "00113436" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088919" "02256" "00113437" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088920" "02256" "00113438" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088921" "02256" "00113439" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088922" "02256" "00113440" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088923" "02256" "00113441" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088924" "02256" "00113442" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088925" "02256" "00113443" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088926" "02256" "00113444" "02152" "Unknown" "" "onset 2d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088927" "02256" "00113445" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088928" "02256" "00113446" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088929" "02256" "00113447" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088930" "02256" "00113448" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088931" "02256" "00113449" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088932" "02256" "00113450" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088933" "02256" "00113451" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088934" "02256" "00113452" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088935" "02256" "00113453" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088936" "02256" "00113454" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088937" "02256" "00113455" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088938" "02256" "00113456" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088939" "02256" "00113457" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088940" "02256" "00113458" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088941" "02256" "00113459" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088942" "02256" "00113460" "02152" "Unknown" "" "onset 6d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088943" "02256" "00113461" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088944" "02256" "00113462" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088945" "02256" "00113463" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088946" "02256" "00113464" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088947" "02256" "00113465" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088948" "00198" "00113466" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088949" "00198" "00113467" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088950" "00198" "00113468" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088951" "00187" "00113469" "00006" "Familial, X-linked" "" "mental retardation, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000088952" "02256" "00113470" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088953" "02256" "00113471" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088954" "02256" "00113472" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088955" "02256" "00113473" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088956" "02256" "00113474" "02152" "Unknown" "" "onset 2y" "" "" "" "" "" "" "" "" "" "" "" "" "0000088957" "02256" "00113475" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088958" "02256" "00113476" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088959" "02256" "00113477" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088960" "00198" "00113478" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088961" "02256" "00113479" "02152" "Unknown" "" "onset 7d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088962" "02256" "00113480" "02152" "Unknown" "" "onset 3d" "" "" "" "" "" "" "" "" "" "" "" "" "0000088963" "00198" "00113481" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088964" "00187" "00113482" "00006" "Unknown" "" "mental retardation, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000088965" "02256" "00113483" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088966" "02256" "00113484" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088967" "02256" "00113485" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088968" "00198" "00113486" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088969" "02256" "00113487" "00006" "Unknown" "" "very mild movement disorder; OTC 0.3-0.5" "06m" "" "" "" "" "" "" "" "" "" "" "" "0000088970" "02256" "00113488" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088971" "02256" "00113489" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088972" "02256" "00113490" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088973" "00198" "00113491" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088974" "00198" "00113492" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088975" "02256" "00113493" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088976" "02256" "00113494" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088977" "02256" "00113495" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088978" "02256" "00113496" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088979" "02256" "00113497" "02152" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088980" "02256" "00113498" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088981" "02256" "00113499" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088982" "02256" "00113500" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088983" "02256" "00113501" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088984" "02256" "00113502" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088985" "02256" "00113503" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088986" "02256" "00113504" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088987" "02256" "00113505" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088988" "02256" "00113506" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088989" "02256" "00113507" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088990" "02256" "00113508" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088991" "02256" "00113509" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088992" "02256" "00113510" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000088993" "02256" "00113511" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088994" "02256" "00113512" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088995" "02256" "00113513" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000088996" "02256" "00113514" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088997" "02256" "00113515" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088998" "02256" "00113516" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000088999" "02256" "00113517" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089000" "02256" "00113518" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089001" "02256" "00113519" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089002" "02256" "00113520" "02152" "Familial, X-linked" "" "onset 6m" "" "" "" "" "" "" "" "" "" "" "" "" "0000089003" "02256" "00113521" "02152" "Unknown" "" "onset 3d" "" "" "" "" "" "" "" "" "" "" "" "" "0000089004" "02256" "00113522" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089005" "02256" "00113523" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089006" "02256" "00113524" "02152" "Unknown" "" "onset 11m" "" "" "" "" "" "" "" "" "" "" "" "" "0000089007" "02256" "00113525" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089008" "02256" "00113526" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089009" "02256" "00113527" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089010" "02256" "00113528" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089011" "02256" "00113529" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089012" "02256" "00113530" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089013" "02256" "00113531" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089014" "02256" "00113532" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089015" "02256" "00113533" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089016" "00198" "00113534" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089017" "02256" "00113535" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089018" "02256" "00113536" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089019" "02256" "00113537" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089020" "02256" "00113538" "00006" "Familial, X-linked" "" "died 11m; OTC 0.2" "11m" "" "" "" "" "" "" "" "" "" "" "" "0000089021" "00198" "00113539" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089022" "02256" "00113540" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000089023" "02256" "00113541" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089024" "02256" "00113542" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000089025" "02256" "00113543" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000089026" "02256" "00113544" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089027" "02256" "00113545" "02152" "Isolated (sporadic)" "" "mild, late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000089028" "02256" "00113546" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089030" "02256" "00113548" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089031" "02256" "00113549" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000089032" "02256" "00113550" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089033" "02256" "00113551" "02152" "Unknown" "" "neonatal" "" "" "" "" "" "" "" "" "" "" "" "" "0000089034" "02256" "00113552" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089035" "02256" "00113553" "02152" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000089036" "02256" "00113554" "02152" "Unknown" "" "late onset" "" "" "" "" "" "" "" "" "" "" "" "" "0000143298" "02256" "00181046" "02568" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143299" "02256" "00181046" "02568" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000155674" "00198" "00207890" "00006" "Familial, X-linked" "" "Hyperammonemia; abnormality of ornithine metabolism" "" "" "" "" "" "" "" "" "" "OTCD" "" "" "0000187298" "02256" "00248289" "00006" "Familial, X-linked recessive" "" "see paper; â€Ĥ" "" "" "" "" "" "" "" "" "" "OTCD" "OTC deficiency" "" "0000231740" "02256" "00305894" "03695" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231764" "02256" "00305916" "03695" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231782" "02256" "00305932" "03695" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232045" "02256" "00306197" "03695" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235162" "00221" "00309847" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235190" "02256" "00309847" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "OTCD" "" "" "0000272252" "02256" "00377061" "02762" "Unknown" "<00y00m" "HP:0001298 encephalopathy\r\nHP:0001987 hyperammonemia\r\nHP:0003218 oroticaciduria" "" "" "" "" "" "" "" "" "" "" "" "" "0000286153" "04214" "00392913" "00000" "Familial, autosomal dominant" "35y" "hyperammonemia and a history of protein avoidance" "" "" "" "" "" "" "" "" "" "Ornithine transcarbamylase deficiency" "" "" "0000322125" "00198" "00431549" "00006" "Isolated (sporadic)" "08y" "36h-generalized seizure resulting in cardiac arrest; high blood ammonia; liver biopsy elevated urine orotic acid, markedly reduced OTC activity; recurrent perianal abscesses, infancy lymphadenitis, 3y-pelvic abscess; acanthocytosis; no retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "OTCD;MCLDS;CGDX" "seizure" "" "0000339411" "00198" "00450350" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339412" "00198" "00450351" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339413" "00198" "00450352" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339414" "00198" "00450353" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339415" "00198" "00450354" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339416" "00198" "00450355" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339417" "00198" "00450356" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339418" "00198" "00450357" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339419" "00198" "00450358" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339420" "00198" "00450359" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339421" "00198" "00450360" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339422" "00198" "00450361" "00006" "Unknown" "" "see paper; ..., asymptomatic, family history, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339423" "00198" "00450362" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339424" "00198" "00450363" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339425" "00198" "00450364" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339426" "00198" "00450365" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339427" "00198" "00450366" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339428" "00198" "00450367" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339429" "00198" "00450368" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339430" "00198" "00450369" "00006" "Unknown" "" "see paper; ..., asymptomatic, family history, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339431" "00198" "00450370" "00006" "Unknown" "" "see paper; ..., asymptomatic, family history, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339432" "00198" "00450371" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339433" "00198" "00450372" "00006" "Unknown" "" "see paper; ..., neonatal onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339434" "00198" "00450373" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339435" "00198" "00450374" "00006" "Unknown" "" "see paper; ..., neonatal onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339436" "00198" "00450375" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339437" "00198" "00450376" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339438" "00198" "00450377" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339439" "00198" "00450378" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339440" "00198" "00450379" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339441" "00198" "00450380" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339442" "00198" "00450381" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339443" "00198" "00450382" "00006" "Unknown" "" "see paper; ..., asymptomatic, family history, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339444" "00198" "00450383" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339445" "00198" "00450384" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339446" "00198" "00450385" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339447" "00198" "00450386" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339448" "00198" "00450387" "00006" "Unknown" "" "see paper; ..., neonatal onset, deceased" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339449" "00198" "00450388" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339450" "00198" "00450389" "00006" "Unknown" "" "see paper; ..., asymptomatic, family history, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339451" "00198" "00450390" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339452" "00198" "00450391" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339453" "00198" "00450392" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339454" "00198" "00450393" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339455" "00198" "00450394" "00006" "Unknown" "" "see paper; ..., neonatal onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339456" "00198" "00450395" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339457" "00198" "00450396" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339458" "00198" "00450397" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339459" "00198" "00450398" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339460" "00198" "00450399" "00006" "Unknown" "" "see paper; ..., neonatal onset, deceased" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339461" "00198" "00450400" "00006" "Unknown" "" "see paper; ..., late onset, no neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000339462" "00198" "00450401" "00006" "Unknown" "" "see paper; ..., late onset, neurologic damage, alive" "" "" "" "" "" "" "" "" "" "OTCD" "urea cycle disorder" "" "0000340200" "02256" "00451463" "04221" "Familial, X-linked" "" "Retrognathia, left lower limb undergrowth, moderate intellectual disability, seizure" "" "" "22y" "" "" "" "" "" "" "Ornithine transcarbamylase deficiency" "Ornithine transcarbamylase deficiency" "" "0000340271" "02256" "00451596" "04221" "Familial, X-linked" "" "" "" "" "01y01m" "" "" "" "" "" "" "Ornithine transcarbamylase deficiency" "Ornithine transcarbamylase deficiency" "" "0000340864" "00198" "00452261" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "OTCD" "ornithine transcarbamylase deficiency" "" "0000340881" "00198" "00452277" "00006" "Familial, X-linked" "" "neurologic damage, deceased" "7m" "" "" "" "" "" "" "" "" "OTCD" "symptomatic female" "" "0000340882" "00198" "00452278" "00006" "Familial, X-linked" "" "alive" "2y" "" "" "" "" "" "" "" "" "OTCD" "hemizygous late onset" "" "0000340883" "00198" "00452279" "00006" "Familial, X-linked" "" "neurologic damage" "6m" "" "" "" "" "" "" "" "" "OTCD" "hemizygous late onset" "" "0000340884" "00198" "00452280" "00006" "Familial, X-linked" "" "neurologic damage" "4y" "" "" "" "" "" "" "" "" "OTCD" "symptomatic female" "" "0000340885" "00198" "00452281" "00006" "Familial, X-linked" "" "deceased" "10y" "" "" "" "" "" "" "" "" "OTCD" "hemizygous late onset" "" "0000340886" "00198" "00452282" "00006" "Familial, X-linked" "" "neurologic damage" "10m" "" "" "" "" "" "" "" "" "OTCD" "symptomatic female" "" "0000340887" "00198" "00452283" "00006" "Familial, X-linked" "" "neurologic damage" "9m" "" "" "" "" "" "" "" "" "OTCD" "symptomatic female" "" "0000340888" "00198" "00452284" "00006" "Familial, X-linked" "" "alive" "<3d" "" "" "" "" "" "" "" "" "OTCD" "hemizygous neonatal onset" "" "0000340889" "00198" "00452285" "00006" "Familial, X-linked" "" "" "8y" "" "" "" "" "" "" "" "" "OTCD" "hemizygous late onset" "" "0000340890" "00198" "00452286" "00006" "Familial, X-linked" "" "deceased" "9m" "" "" "" "" "" "" "" "" "OTCD" "symptomatic female" "" "0000340891" "00198" "00452287" "00006" "Familial, X-linked" "" "deceased" "<3d" "" "" "" "" "" "" "" "" "OTCD" "hemizygous neonatal onset" "" "0000342296" "02554" "00453639" "00006" "Familial, X-linked recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "05y-10y" "" "" "" "" "" "" "" "" "OTCD" "inborn error of metabolism" "" "0000351598" "00198" "00466216" "00006" "Isolated (sporadic)" "05y" "see paper; ..., ornithine transcarbamylase deficiency" "" "" "00y15m" "" "" "" "" "" "" "OTCD" "ornithine transcarbamylase deficiency" "" "0000352555" "05611" "00467348" "00006" "Familial, X-linked recessive" "" "vomiting, confusion, hyperammonemia, low plasma citrulline, hypoargininemia, brain hernia, central cardiovascular failure, respiratory difficulties" "8y" "" "" "" "" "" "" "" "" "OTCD" "neurodevelopmental delay, dyspnea" "" "0000352558" "05611" "00467351" "00006" "Familial, X-linked recessive" "" "fever, vomiting, coma, generalized tonic-clonic seizures, muscular hypotonia, dyspnea, cerebral edema, thrombocytosis" "4y" "" "" "" "" "" "" "" "" "OTCD" "neurodevelopmental delay, dyspnea" "" ## Screenings ## Do not remove or alter this header ## ## Count = 531 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000113567" "00113109" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113568" "00113110" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113569" "00113111" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113570" "00113112" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113571" "00113113" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113572" "00113114" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113573" "00113115" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113574" "00113116" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113575" "00113117" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113576" "00113118" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113577" "00113119" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113578" "00113120" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113579" "00113121" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113580" "00113122" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113581" "00113123" "1" "02173" "02173" "2009-08-21 13:52:15" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113582" "00113124" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113583" "00113125" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113584" "00113126" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113585" "00113127" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113586" "00113128" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113587" "00113129" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113588" "00113130" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113589" "00113131" "1" "00006" "00006" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113590" "00113132" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113591" "00113133" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113592" "00113134" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113593" "00113135" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113594" "00113136" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113595" "00113137" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113596" "00113138" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113597" "00113139" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113598" "00113140" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113599" "00113141" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113600" "00113142" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113601" "00113143" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113602" "00113144" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113603" "00113145" "1" "02152" "02152" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113604" "00113146" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113605" "00113147" "1" "00006" "00006" "2009-04-05 17:06:02" "" "" "MCA;SEQ" "DNA" "" "" "0000113606" "00113148" "1" "00006" "00006" "2009-05-03 22:34:48" "" "" "MCA;SEQ" "DNA" "" "" "0000113607" "00113149" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113608" "00113150" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113609" "00113151" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113610" "00113152" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113611" "00113153" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113612" "00113154" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113613" "00113155" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113614" "00113156" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113615" "00113157" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113616" "00113158" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113617" "00113159" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113618" "00113160" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113619" "00113161" "1" "00006" "00006" "2009-05-03 22:34:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000113620" "00113162" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000113621" "00113163" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113622" "00113164" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113623" "00113165" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113624" "00113166" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113625" "00113167" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113626" "00113168" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113627" "00113169" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113628" "00113170" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113629" "00113171" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113630" "00113172" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113631" "00113173" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113632" "00113174" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113633" "00113175" "1" "00006" "00006" "2009-04-05 17:06:02" "" "" "SSCA" "DNA" "" "" "0000113634" "00113176" "1" "00006" "00006" "2009-05-03 22:34:48" "" "" "SSCA" "DNA" "" "" "0000113635" "00113177" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113636" "00113178" "1" "00006" "00006" "2009-04-05 17:06:02" "" "" "SSCA" "DNA" "" "" "0000113637" "00113179" "1" "00006" "00006" "2009-05-03 22:34:48" "" "" "SSCA" "DNA" "" "" "0000113638" "00113180" "1" "02152" "02152" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113639" "00113181" "1" "00006" "00006" "2009-04-05 17:06:02" "" "" "SSCA;MCA;SEQ" "DNA" "" "" "0000113640" "00113182" "1" "00006" "00006" "2009-05-03 22:34:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000113641" "00113183" "1" "00006" "00006" "2009-05-03 22:34:48" "" "" "SSCA;MCA;SEQ" "DNA" "" "" "0000113642" "00113184" "1" "00006" "00006" "2009-05-17 12:36:02" "00006" "2011-01-24 22:48:03" "SEQ" "DNA" "" "" "0000113643" "00113185" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113644" "00113186" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113645" "00113187" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113646" "00113188" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113647" "00113189" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113648" "00113190" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113649" "00113191" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113650" "00113192" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113651" "00113193" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113652" "00113194" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113653" "00113195" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113654" "00113196" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113655" "00113197" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113656" "00113198" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113657" "00113199" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113658" "00113200" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113659" "00113201" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113660" "00113202" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113661" "00113203" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113662" "00113204" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113663" "00113205" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113665" "00113207" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113666" "00113208" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113667" "00113209" "1" "02152" "02152" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113668" "00113210" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113669" "00113211" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113670" "00113212" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113671" "00113213" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113672" "00113214" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113673" "00113215" "1" "02152" "02152" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113674" "00113216" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113675" "00113217" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113676" "00113218" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113677" "00113219" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113678" "00113220" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113679" "00113221" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113680" "00113222" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113681" "00113223" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113682" "00113224" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113683" "00113225" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113684" "00113226" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113685" "00113227" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113686" "00113228" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113687" "00113229" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113688" "00113230" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113689" "00113231" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113690" "00113232" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113691" "00113233" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113692" "00113234" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113693" "00113235" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113694" "00113236" "1" "02152" "02152" "2007-12-01 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"DNA" "" "" "0000113785" "00113327" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113786" "00113328" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113787" "00113329" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113788" "00113330" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113789" "00113331" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113790" "00113332" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113791" "00113333" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113792" "00113334" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113793" "00113335" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113794" "00113336" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113795" "00113337" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113796" "00113338" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113797" "00113339" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113798" "00113340" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113799" "00113341" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113800" "00113342" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113802" "00113344" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113803" "00113345" "1" "02152" "02152" 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"2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113947" "00113489" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113948" "00113490" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113949" "00113491" "1" "00006" "00006" "2009-04-05 17:06:02" "" "" "SSCA" "DNA" "" "" "0000113950" "00113492" "1" "00006" "00006" "2009-05-03 22:34:48" "" "" "SSCA" "DNA" "" "" "0000113951" "00113493" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113952" "00113494" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113953" "00113495" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113954" "00113496" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113955" "00113497" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113956" "00113498" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113957" "00113499" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113958" "00113500" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113959" "00113501" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113960" "00113502" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113961" "00113503" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113962" "00113504" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113963" "00113505" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113964" "00113506" "1" 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22:51:06" "SEQ" "DNA" "" "" "0000113982" "00113524" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113983" "00113525" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113984" "00113526" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113985" "00113527" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113986" "00113528" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113987" "00113529" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113988" "00113530" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113989" "00113531" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113990" "00113532" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113991" "00113533" "1" "02152" "02152" "2007-12-01 15:46:09" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113992" "00113534" "1" "02152" "02152" "2007-12-01 15:46:09" "" "" "SEQ" "DNA" "" "" "0000113993" "00113535" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113994" "00113536" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113995" "00113537" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113996" "00113538" "1" "00006" "00006" "2009-05-03 22:34:48" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000113997" "00113539" "1" "02152" "02152" "2007-12-01 15:46:08" "" "" "SEQ" "DNA" "" "" "0000113998" "00113540" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000113999" "00113541" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114000" "00113542" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114001" "00113543" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114002" "00113544" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114003" "00113545" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114004" "00113546" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114006" "00113548" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114007" "00113549" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114008" "00113550" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114009" "00113551" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114010" "00113552" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114011" "00113553" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000114012" "00113554" "1" "02152" "02152" "2007-12-01 15:46:08" "00006" "2011-01-24 22:51:06" "SEQ" "DNA" "" "" "0000181994" "00181046" "1" "02568" "02568" "2018-09-21 12:55:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000208932" "00207890" "1" "00006" "00006" "2018-12-02 17:52:50" "" "" "SEQ" "DNA" "" "WGS" "0000249394" "00248289" "1" "00006" "00006" "2019-07-21 09:07:39" "" "" "SEQ" "DNA" "" "" "0000296225" "00295057" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296226" "00295058" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296401" "00295233" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296402" "00295234" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306432" "00305303" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306462" "00305333" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307025" "00305894" "1" "03695" "03695" "2020-07-05 14:08:20" "" "" "SEQ-NG" "DNA" "" "" "0000307047" "00305916" "1" "03695" "03695" "2020-07-05 16:18:47" "" "" "SEQ-NG" "DNA" "" "" "0000307063" "00305932" "1" "03695" "03695" "2020-07-05 19:57:11" "" "" "SEQ-NG" "DNA" "" "" "0000307331" "00306197" "1" "03695" "03695" "2020-07-11 07:36:48" "" "" "SEQ-NG" "DNA" "" "" "0000310991" "00309847" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000378266" "00377061" "1" "02762" "02762" "2021-06-30 08:06:29" "" "" "MLPA;SEQ-NG" "DNA" "blood" "Urea/organic acidaemia panel" "0000394160" "00392913" "1" "00000" "03840" "2021-11-25 10:23:18" "" "" "SEQ" "DNA" "blood" "whole genome sequencing after negative exome" "0000432974" "00431549" "1" "00006" "00006" "2023-02-14 16:24:12" "" "" "arrayCGH;PCR;SEQ" "DNA" "" "" "0000451947" "00450350" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451948" "00450351" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451949" "00450352" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451950" "00450353" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451951" "00450354" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451952" "00450355" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451953" "00450356" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451954" "00450357" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451955" "00450358" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451956" "00450359" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451957" "00450360" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451958" "00450361" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451959" "00450362" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451960" "00450363" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451961" "00450364" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451962" "00450365" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451963" "00450366" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451964" "00450367" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451965" "00450368" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451966" "00450369" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451967" "00450370" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451968" "00450371" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451969" "00450372" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451970" "00450373" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451971" "00450374" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451972" "00450375" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451973" "00450376" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451974" "00450377" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451975" "00450378" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451976" "00450379" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451977" "00450380" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451978" "00450381" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451979" "00450382" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451980" "00450383" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451981" "00450384" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451982" "00450385" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451983" "00450386" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451984" "00450387" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451985" "00450388" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451986" "00450389" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451987" "00450390" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451988" "00450391" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451989" "00450392" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451990" "00450393" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451991" "00450394" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451992" "00450395" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451993" "00450396" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451994" "00450397" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451995" "00450398" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451996" "00450399" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451997" "00450400" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000451998" "00450401" "1" "00006" "00006" "2024-05-25 13:24:39" "" "" "SEQ" "DNA" "" "" "0000453064" "00451463" "1" "04221" "04221" "2024-06-07 00:36:00" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453197" "00451596" "1" "04221" "04221" "2024-06-12 18:20:24" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" "0000453863" "00452261" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453879" "00452277" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "MLPA" "DNA" "" "" "0000453880" "00452278" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453881" "00452279" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453882" "00452280" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453883" "00452281" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453884" "00452282" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453885" "00452283" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453886" "00452284" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453887" "00452285" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000453888" "00452286" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "MLPA" "DNA" "" "" "0000453889" "00452287" "1" "00006" "00006" "2024-07-14 11:23:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000455251" "00453639" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000467872" "00466216" "1" "00006" "00006" "2025-08-11 12:22:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000469011" "00467348" "1" "00006" "00006" "2025-10-12 14:40:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000469014" "00467351" "1" "00006" "00006" "2025-10-12 14:40:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 519 "{{screeningid}}" "{{geneid}}" "0000113567" "OTC" "0000113568" "OTC" "0000113569" "OTC" "0000113570" "OTC" "0000113571" "OTC" "0000113572" "OTC" "0000113573" "OTC" "0000113574" "OTC" "0000113575" "OTC" "0000113576" "OTC" "0000113577" "OTC" "0000113578" "OTC" "0000113579" "OTC" "0000113580" "OTC" "0000113581" "OTC" "0000113582" "OTC" "0000113583" "OTC" "0000113584" "OTC" "0000113585" "OTC" "0000113586" "OTC" "0000113587" "OTC" "0000113588" "OTC" "0000113589" "OTC" "0000113590" "OTC" "0000113591" "OTC" "0000113592" "OTC" "0000113593" "OTC" "0000113594" "OTC" "0000113595" "OTC" "0000113596" "OTC" "0000113597" "OTC" "0000113598" "OTC" "0000113599" "OTC" "0000113600" "OTC" "0000113601" "OTC" "0000113602" "OTC" "0000113603" "OTC" "0000113604" "OTC" "0000113605" "OTC" "0000113606" "OTC" "0000113607" "OTC" "0000113608" "OTC" "0000113609" "OTC" "0000113610" "OTC" "0000113611" "OTC" "0000113612" "OTC" "0000113613" "OTC" "0000113614" "OTC" "0000113615" "OTC" "0000113616" "OTC" "0000113617" "OTC" "0000113618" "OTC" "0000113619" "OTC" "0000113620" "OTC" "0000113621" "OTC" "0000113622" "OTC" "0000113623" "OTC" "0000113624" "OTC" "0000113625" "OTC" "0000113626" "OTC" "0000113627" "OTC" "0000113628" "OTC" "0000113629" "OTC" "0000113630" "OTC" "0000113631" "OTC" "0000113632" "OTC" "0000113633" "OTC" "0000113634" "OTC" "0000113635" "OTC" "0000113636" "OTC" "0000113637" "OTC" "0000113638" "OTC" "0000113639" "OTC" "0000113640" "OTC" "0000113641" "OTC" "0000113642" "OTC" "0000113643" "OTC" "0000113644" "OTC" "0000113645" "OTC" "0000113646" "OTC" "0000113647" "OTC" "0000113648" "OTC" "0000113649" "OTC" "0000113650" "OTC" "0000113651" "OTC" "0000113652" "OTC" "0000113653" "OTC" "0000113654" "OTC" "0000113655" "OTC" "0000113656" "OTC" "0000113657" "OTC" "0000113658" "OTC" "0000113659" "OTC" "0000113660" "OTC" "0000113661" "OTC" "0000113662" "OTC" "0000113663" "OTC" "0000113665" "OTC" "0000113666" "OTC" "0000113667" "OTC" "0000113668" "OTC" "0000113669" "OTC" "0000113670" "OTC" "0000113671" "OTC" "0000113672" "OTC" "0000113673" "OTC" "0000113674" "OTC" "0000113675" "OTC" "0000113676" "OTC" "0000113677" "OTC" "0000113678" "OTC" "0000113679" "OTC" "0000113680" "OTC" "0000113681" "OTC" "0000113682" "OTC" "0000113683" "OTC" "0000113684" "OTC" "0000113685" "OTC" "0000113686" "OTC" "0000113687" "OTC" "0000113688" "OTC" "0000113689" "OTC" "0000113690" "OTC" "0000113691" "OTC" "0000113692" "OTC" "0000113693" "OTC" "0000113694" "OTC" "0000113695" "OTC" "0000113696" "OTC" "0000113697" "OTC" "0000113698" "OTC" "0000113699" "OTC" "0000113700" "OTC" "0000113701" "OTC" "0000113702" "OTC" "0000113703" "OTC" "0000113704" "OTC" "0000113705" "OTC" "0000113706" "OTC" "0000113707" "OTC" "0000113708" "OTC" "0000113709" "OTC" "0000113710" "OTC" "0000113711" "OTC" "0000113712" "OTC" "0000113713" "OTC" "0000113714" "OTC" "0000113715" "OTC" "0000113716" "OTC" "0000113717" "OTC" "0000113718" "OTC" "0000113719" "OTC" "0000113720" "OTC" "0000113721" "OTC" "0000113722" "OTC" "0000113723" "OTC" "0000113724" "OTC" "0000113725" "OTC" "0000113726" "OTC" "0000113727" "OTC" "0000113728" "OTC" "0000113729" "OTC" "0000113730" "OTC" "0000113731" "OTC" "0000113732" "OTC" "0000113733" "OTC" "0000113734" "OTC" "0000113735" "OTC" "0000113736" "OTC" "0000113737" "OTC" "0000113738" "OTC" "0000113739" "OTC" "0000113740" "OTC" "0000113741" "OTC" "0000113742" "OTC" "0000113743" "OTC" "0000113744" "OTC" "0000113745" "OTC" "0000113746" "OTC" "0000113747" "OTC" "0000113748" "OTC" "0000113749" "OTC" "0000113750" "OTC" "0000113751" "OTC" "0000113752" "OTC" "0000113753" "OTC" "0000113754" "OTC" "0000113755" "OTC" "0000113756" "OTC" "0000113757" "OTC" "0000113758" "OTC" "0000113759" "OTC" "0000113760" "OTC" "0000113761" "OTC" "0000113762" "OTC" "0000113763" "OTC" "0000113764" "OTC" "0000113765" "OTC" "0000113766" "OTC" "0000113767" "OTC" "0000113768" "OTC" "0000113769" "OTC" "0000113770" "OTC" "0000113771" "OTC" "0000113772" "OTC" "0000113773" "OTC" "0000113774" "OTC" "0000113775" "OTC" "0000113776" "OTC" "0000113777" "OTC" "0000113778" "OTC" "0000113779" "OTC" "0000113780" "OTC" "0000113781" "OTC" "0000113782" "OTC" "0000113783" "OTC" "0000113784" "OTC" "0000113785" "OTC" "0000113786" "OTC" "0000113787" "OTC" "0000113788" "OTC" "0000113789" "OTC" "0000113790" "OTC" "0000113791" "OTC" "0000113792" "OTC" "0000113793" "OTC" "0000113794" "OTC" "0000113795" "OTC" "0000113796" "OTC" "0000113797" "OTC" "0000113798" "OTC" "0000113799" "OTC" "0000113800" "OTC" "0000113802" "OTC" "0000113803" "OTC" "0000113804" "OTC" "0000113805" "OTC" "0000113806" "OTC" "0000113807" "OTC" "0000113808" "OTC" "0000113809" "OTC" "0000113810" "OTC" "0000113811" "OTC" "0000113812" "OTC" "0000113813" "OTC" "0000113814" "OTC" "0000113815" "OTC" "0000113816" "OTC" "0000113817" "OTC" "0000113818" "OTC" "0000113819" "OTC" "0000113820" "OTC" "0000113821" "OTC" "0000113822" "OTC" "0000113823" "OTC" "0000113824" "OTC" "0000113826" "OTC" "0000113827" "OTC" "0000113828" "OTC" "0000113829" "OTC" "0000113830" "OTC" "0000113831" "OTC" "0000113832" "OTC" "0000113833" "OTC" "0000113834" "OTC" "0000113835" "OTC" "0000113836" "OTC" "0000113837" "OTC" "0000113838" "OTC" "0000113839" "OTC" "0000113840" "OTC" "0000113841" "OTC" "0000113842" "OTC" "0000113843" "OTC" "0000113844" "OTC" "0000113845" "OTC" "0000113846" "OTC" "0000113847" "OTC" "0000113848" "OTC" "0000113849" "OTC" "0000113850" "OTC" "0000113851" "OTC" "0000113852" "OTC" "0000113853" "OTC" "0000113854" "OTC" "0000113855" "OTC" "0000113856" "OTC" "0000113857" "OTC" "0000113858" "OTC" "0000113859" "OTC" "0000113860" "OTC" "0000113861" "OTC" "0000113862" "OTC" "0000113863" "OTC" "0000113864" "OTC" "0000113865" "OTC" "0000113866" "OTC" "0000113867" "OTC" "0000113868" "OTC" "0000113869" "OTC" "0000113870" "OTC" "0000113871" "OTC" "0000113872" "OTC" "0000113873" "OTC" "0000113874" "OTC" "0000113875" "OTC" "0000113876" "OTC" "0000113877" "OTC" "0000113878" "OTC" "0000113879" "OTC" "0000113880" "OTC" "0000113881" "OTC" "0000113882" "OTC" "0000113883" "OTC" "0000113884" "OTC" "0000113885" "OTC" "0000113886" "OTC" "0000113887" "OTC" "0000113888" "OTC" "0000113889" "OTC" "0000113890" "OTC" "0000113891" "OTC" "0000113892" "OTC" "0000113893" "OTC" "0000113894" "OTC" "0000113895" "OTC" "0000113896" "OTC" "0000113897" "OTC" "0000113898" "OTC" "0000113899" "OTC" "0000113900" "OTC" "0000113901" "OTC" "0000113902" "OTC" "0000113903" "OTC" "0000113904" "OTC" "0000113905" "OTC" "0000113906" "OTC" "0000113907" "OTC" "0000113908" "OTC" "0000113909" "OTC" "0000113910" "OTC" "0000113911" "OTC" "0000113912" "OTC" "0000113913" "OTC" "0000113914" "OTC" "0000113915" "OTC" "0000113916" "OTC" "0000113917" "OTC" "0000113918" "OTC" "0000113919" "OTC" "0000113920" "OTC" "0000113921" "OTC" "0000113922" "OTC" "0000113923" "OTC" "0000113924" "OTC" "0000113925" "OTC" "0000113926" "OTC" "0000113927" "OTC" "0000113928" "OTC" "0000113929" "OTC" "0000113930" "OTC" "0000113931" "OTC" "0000113932" "OTC" "0000113933" "OTC" "0000113934" "OTC" "0000113935" "OTC" "0000113936" "OTC" "0000113937" "OTC" "0000113938" "OTC" "0000113939" "OTC" "0000113940" "OTC" "0000113941" "OTC" "0000113942" "OTC" "0000113943" "OTC" "0000113944" "OTC" "0000113945" "OTC" "0000113946" "OTC" "0000113947" "OTC" "0000113948" "OTC" "0000113949" "OTC" "0000113950" "OTC" "0000113951" "OTC" "0000113952" "OTC" "0000113953" "OTC" "0000113954" "OTC" "0000113955" "OTC" "0000113956" "OTC" "0000113957" "OTC" "0000113958" "OTC" "0000113959" "OTC" "0000113960" "OTC" "0000113961" "OTC" "0000113962" "OTC" "0000113963" "OTC" "0000113964" "OTC" "0000113965" "OTC" "0000113966" "OTC" "0000113967" "OTC" "0000113968" "OTC" "0000113969" "OTC" "0000113970" "OTC" "0000113971" "OTC" "0000113972" "OTC" "0000113973" "OTC" "0000113974" "OTC" "0000113975" "OTC" "0000113976" "OTC" "0000113977" "OTC" "0000113978" "OTC" "0000113979" "OTC" "0000113980" "OTC" "0000113981" "OTC" "0000113982" "OTC" "0000113983" "OTC" "0000113984" "OTC" "0000113985" "OTC" "0000113986" "OTC" "0000113987" "OTC" "0000113988" "OTC" "0000113989" "OTC" "0000113990" "OTC" "0000113991" "OTC" "0000113992" "OTC" "0000113993" "OTC" "0000113994" "OTC" "0000113995" "OTC" "0000113996" "OTC" "0000113997" "OTC" "0000113998" "OTC" "0000113999" "OTC" "0000114000" "OTC" "0000114001" "OTC" "0000114002" "OTC" "0000114003" "OTC" "0000114004" "OTC" "0000114006" "OTC" "0000114007" "OTC" "0000114008" "OTC" "0000114009" "OTC" "0000114010" "OTC" "0000114011" "OTC" "0000114012" "OTC" "0000181994" "OTC" "0000208932" "OTC" "0000249394" "OTC" "0000307025" "OTC" "0000307047" "OTC" "0000307063" "OTC" "0000307331" "OTC" "0000310991" "PAH" "0000378266" "OTC" "0000394160" "OTC" "0000451947" "OTC" "0000451948" "OTC" "0000451949" "OTC" "0000451950" "OTC" "0000451951" "OTC" "0000451952" "OTC" "0000451953" "OTC" "0000451954" "OTC" "0000451955" "OTC" "0000451956" "OTC" "0000451957" "OTC" "0000451958" "OTC" "0000451959" "OTC" "0000451960" "OTC" "0000451961" "OTC" "0000451962" "OTC" "0000451963" "OTC" "0000451964" "OTC" "0000451965" "OTC" "0000451966" "OTC" "0000451967" "OTC" "0000451968" "OTC" "0000451969" "OTC" "0000451970" "OTC" "0000451971" "OTC" "0000451972" "OTC" "0000451973" "OTC" "0000451974" "OTC" "0000451975" "OTC" "0000451976" "OTC" "0000451977" "OTC" "0000451978" "OTC" "0000451979" "OTC" "0000451980" "OTC" "0000451981" "OTC" "0000451982" "OTC" "0000451983" "OTC" "0000451984" "OTC" "0000451985" "OTC" "0000451986" "OTC" "0000451987" "OTC" "0000451988" "OTC" "0000451989" "OTC" "0000451990" "OTC" "0000451991" "OTC" "0000451992" "OTC" "0000451993" "OTC" "0000451994" "OTC" "0000451995" "OTC" "0000451996" "OTC" "0000451997" "OTC" "0000451998" "OTC" "0000453064" "OTC" "0000453197" "OTC" "0000453863" "OTC" "0000453879" "OTC" "0000453880" "OTC" "0000453881" "OTC" "0000453882" "OTC" "0000453883" "OTC" "0000453884" "OTC" "0000453885" "OTC" "0000453886" "OTC" "0000453887" "OTC" "0000453888" "OTC" "0000453889" "OTC" "0000467872" "OTC" ## 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 = 635 "{{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}}" "0000001864" "0" "50" "X" "38270933" "38270933" "dup" "0" "00037" "OTC_000402" "g.38270933dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38411680dup" "" "VUS" "" "0000002883" "0" "50" "X" "38270933" "38270933" "dup" "0" "00037" "OTC_000403" "g.38270933dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38411680dup" "" "VUS" "" "0000014574" "20" "50" "X" "38212463" "38212463" "subst" "0" "00037" "OTC_000401" "g.38212463C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38353210C>A" "" "VUS" "" "0000182847" "1" "50" "X" "38211949" "38280336" "" "0" "02152" "OTC_000210" "g.(?_38211949)_(38280336_?)del" "" "{PMID:Suess 1992:1627356}" "" "" "deletion entire OTC gene" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000182848" "1" "50" "X" "38211949" "38280336" "" "0" "02152" "OTC_000210" "g.(?_38211949)_(38280336_?)del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000182849" "1" "50" "X" "38211949" "38280336" "" "0" "02152" "OTC_000210" "g.(?_38211949)_(38280336_?)del" "" "{PMID:Tuchman 2002:11793468}" "" "" "deletion entire OTC gene" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000182850" "1" "90" "X" "38211949" "38271253" "" "0" "02152" "OTC_000355" "g.(?_38211949)_(38271253_38280275)del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000182851" "1" "90" "X" "38211949" "38229131" "" "0" "02152" "OTC_000098" "g.(?_38211949)_(38229131_38240594)del" "" "{PMID:Tuchman 1997:09266388}" "" "" "deletion exons 1-3" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000182852" "1" "90" "X" "38211949" "38268279" "" "0" "02152" "OTC_000357" "g.(?_38211949)_(38268279_38271114)del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000182853" "1" "90" "X" "38226543" "38240683" "" "0" "02152" "OTC_000358" "g.(38212027_38226543)_(38240683_38260527)del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000182854" "1" "50" "X" "38228995" "38228995" "dup" "0" "02152" "OTC_000032" "g.38228995dup" "" "Matsuura 1993" "" "c.IVS2-54insA" "" "Germline" "" "" "0" "" "" "g.38369742dup" "" "VUS" "" "0000182855" "1" "90" "X" "38240594" "38280336" "" "0" "02152" "OTC_000111" "g.(38229131_38240594)_(38280336_?)del" "" "{PMID:Tuchman 1997:09266388}" "" "" "deletion exons 4-10" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000182856" "1" "50" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "2/36" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "VUS" "" "0000182857" "1" "50" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "16/103" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "VUS" "" "0000182858" "1" "50" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "1/57" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "VUS" "" "0000182859" "1" "50" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "13/57" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "VUS" "" "0000182860" "1" "50" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "7/57" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "VUS" "" "0000182861" "1" "10" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "13/103" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "benign" "" "0000182862" "1" "10" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "18/36" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "benign" "" "0000182863" "1" "10" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "21/57" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "benign" "" "0000182864" "1" "10" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "38/103" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "benign" "" "0000182865" "1" "10" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "7/36" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "benign" "" "0000182866" "1" "10" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "3/57" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs57752938" "0" "" "" "g.38352182_38352185del" "" "benign" "" "0000182867" "1" "10" "X" "38211435" "38211438" "del" "0" "00006" "OTC_000257" "g.38211435_38211438del" "3/103" "{PMID:Azevedo 2003:12618087}" "MboII" "-512insTCTT" "" "Germline" "" "rs5917572" "0" "" "" "g.38352182_38352185del" "" "benign" "" "0000182868" "1" "50" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "2/36" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "VUS" "" "0000182869" "1" "50" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "16/103" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "VUS" "" "0000182870" "1" "50" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "1/57" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "VUS" "" "0000182871" "1" "50" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "13/57" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "VUS" "" "0000182872" "1" "50" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "7/57" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "VUS" "" "0000182873" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "13/103" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182874" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "18/36" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182875" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "21/57" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182876" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "38/103" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182877" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "7/36" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182878" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "3/57" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182879" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "3/103" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182880" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "1/36" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182881" "1" "10" "X" "38211509" "38211509" "subst" "0" "00006" "OTC_000256" "g.38211509A>G" "1/57" "{PMID:Azevedo 2003:12618087}" "" "(-441G>A)" "" "Germline" "" "rs5917572" "0" "" "" "g.38352256A>G" "" "benign" "" "0000182882" "11" "90" "X" "38211584" "38211584" "subst" "0" "02173" "OTC_000400" "g.38211584A>G" "" "" "" "" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.38352331A>G" "" "pathogenic" "" "0000182883" "1" "50" "X" "38211585" "38211585" "subst" "0" "00006" "OTC_000255" "g.38211585G>A" "2/36" "{PMID:Azevedo 2003:12618087}" "TseI;Fnu4HI;BbvI" "" "" "Germline" "" "rs5963030" "0" "" "" "g.38352332G>A" "" "VUS" "" "0000182884" "1" "50" "X" "38211585" "38211585" "subst" "0" "00006" "OTC_000255" "g.38211585G>A" "16/103" "{PMID:Azevedo 2003:12618087}" "TseI;Fnu4HI;BbvI" "" "" "Germline" "" "rs5963030" "0" "" "" "g.38352332G>A" "" "VUS" "" "0000182885" "1" "50" "X" "38211585" "38211585" "subst" "0" "00006" "OTC_000255" "g.38211585G>A" "1/57" "{PMID:Azevedo 2003:12618087}" "TseI;Fnu4HI;BbvI" "" "" "Germline" "" "rs5963030" "0" "" "" "g.38352332G>A" "" "VUS" "" "0000182886" "1" "50" "X" "38211585" "38211585" "subst" "0" "00006" "OTC_000255" "g.38211585G>A" "7/57" "{PMID:Azevedo 2003:12618087}" "TseI;Fnu4HI;BbvI" "" "" "Germline" "" "rs5963030" "0" "" "" "g.38352332G>A" "" "VUS" "" "0000182887" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "24/103" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182888" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "2/36" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182889" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "6/57" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182890" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "1/36" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182891" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "1/57" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182892" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "3/57" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182893" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "4/103" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182894" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "6/36" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182895" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "2/57" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182896" "1" "10" "X" "38211591" "38211591" "subst" "0" "00006" "OTC_000254" "g.38211591A>G" "4/103" "{PMID:Azevedo 2003:12618087}" "" "" "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" "" "rs5917573" "0" "" "" "g.38352338A>G" "" "benign" "" "0000182897" "1" "50" "X" "38211950" "38211950" "subst" "0" "02152" "OTC_000099" "g.38211950A>G" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "MboII;SfaNI" "" "" "Germline" "" "" "0" "" "" "g.38352697A>G" "" "VUS" "" "0000182898" "1" "50" "X" "38211950" "38211950" "subst" "0" "02152" "OTC_000361" "g.38211950A>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38352697A>T" "" "VUS" "" "0000182899" "1" "50" "X" "38211951" "38211951" "subst" "0" "02152" "OTC_000365" "g.38211951T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38352698T>C" "" "VUS" "" "0000182900" "1" "50" "X" "38211952" "38211952" "subst" "0" "02152" "OTC_000211" "g.38211952G>A" "" "{PMID:Climent and Rubio 2002:11793483}" "SfaNI;HpyCH4III" "" "" "Germline" "" "" "0" "" "" "g.38352699G>A" "" "VUS" "" "0000182901" "1" "50" "X" "38211975" "38211975" "subst" "0" "02152" "OTC_000264" "g.38211975T>G" "" "{PMID:Kim 2006:17041896}" "" "c.25T>G" "not in 100 control chromosomes; OTC activity 0, Serum ammonia 430, Urine orotic acid 532, Serum citrulline 33.5," "Germline" "" "" "0" "" "" "g.38352722T>G" "" "VUS" "" "0000182902" "1" "50" "X" "38211978" "38211978" "dup" "0" "02152" "OTC_000375" "g.38211978dup" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38352725dup" "" "VUS" "" "0000182903" "1" "50" "X" "38211978" "38211981" "del" "0" "02152" "OTC_000370" "g.38211978_38211981del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38352725_38352728del" "" "VUS" "" "0000182904" "1" "50" "X" "38211983" "38211983" "subst" "0" "02152" "OTC_000260" "g.38211983G>A" "" "Tanaka 2005" "TseI;CviRI;Fnu4HI;BbvI" "" "" "Germline" "" "" "0" "" "" "g.38352730G>A" "" "VUS" "" "0000182905" "1" "50" "X" "38211991" "38211991" "del" "0" "02152" "OTC_000379" "g.38211991del" "" "Hwu 2003" "" "" "Leader sequence; OTC activity 23%" "Germline" "" "" "0" "" "" "g.38352738del" "" "VUS" "" "0000182906" "1" "10" "X" "38211995" "38211995" "subst" "0" "00006" "OTC_000390" "g.38211995A>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "100 individuals tested" "Germline" "" "" "0" "" "" "g.38352742A>G" "" "benign" "" "0000182907" "1" "10" "X" "38211995" "38211995" "subst" "0" "00006" "OTC_000390" "g.38211995A>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.38352742A>G" "" "benign" "" "0000182908" "1" "50" "X" "38212002" "38212002" "del" "0" "02152" "OTC_000212" "g.38212002del" "" "{PMID:Tuchman 2002:11793468}" "AvaII" "" "" "Germline" "" "" "0" "" "" "g.38352749del" "" "VUS" "" "0000182909" "1" "50" "X" "38212016" "38212016" "subst" "0" "02152" "OTC_000011" "g.38212016C>T" "" "Grompe 1991" "TaqI;AsuII" "" "Leader sequence" "Germline" "" "" "0" "" "" "g.38352763C>T" "" "VUS" "" "0000182910" "1" "50" "X" "38212026" "38212026" "subst" "0" "02152" "OTC_000003" "g.38212026G>A" "" "Grompe 1989" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38352773G>A" "" "VUS" "" "0000182911" "1" "50" "X" "38212026" "38212026" "subst" "0" "02152" "OTC_000003" "g.38212026G>A" "" "{PMID:Kim 2006:17041896}" "" "" "OTC activity ?, Serum ammonia 1260, Urine orotic acid 3685, Serum citrulline 0," "Germline" "" "" "0" "" "" "g.38352773G>A" "" "VUS" "" "0000182912" "1" "50" "X" "38212026" "38212026" "subst" "0" "02152" "OTC_000270" "g.38212026G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "Leader sequence, CpG dinucleotide, possible donor splice site error" "Germline" "" "" "0" "" "" "g.38352773G>C" "" "VUS" "" "0000182913" "1" "50" "X" "38212026" "38212026" "subst" "0" "02152" "OTC_000270" "g.38212026G>C" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity 0, Serum ammonia 280, Urine orotic acid 783, Serum citrulline 11.2" "Germline" "" "" "0" "" "" "g.38352773G>C" "" "VUS" "" "0000182914" "1" "50" "X" "38212027" "38212027" "subst" "0" "02152" "OTC_000298" "g.38212027G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38352774G>A" "" "VUS" "" "0000182915" "1" "50" "X" "38212027" "38212027" "subst" "0" "02152" "OTC_000100" "g.38212027G>T" "" "{PMID:Tuchman 1997:09266388}" "MseI" "c.IVS1+1G>T" "" "Germline" "" "" "0" "" "" "g.38352774G>T" "" "VUS" "" "0000182916" "1" "50" "X" "38212028" "38212028" "dup" "0" "02152" "OTC_000302" "g.38212028dup" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38352775dup" "" "VUS" "" "0000182917" "1" "70" "X" "38212029" "38212032" "del" "0" "02152" "OTC_000213" "g.38212029_38212032del" "" "{PMID:Tuchman 2002:11793468}" "HpHI" "c.IVS1+3_6delAAGT" "" "Germline" "" "" "0" "" "" "g.38352776_38352779del" "" "likely pathogenic" "" "0000182918" "1" "50" "X" "38212030" "38212030" "subst" "0" "02152" "OTC_000078" "g.38212030A>C" "" "Hoshide 1996" "TspRI" "c.IVS1+4A>C" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38352777A>C" "" "VUS" "" "0000182919" "1" "50" "X" "38212031" "38212031" "subst" "0" "02152" "OTC_000101" "g.38212031G>A" "" "{PMID:Tuchman 1997:09266388}" "" "c.IVS1+5G>A" "" "Germline" "" "" "0" "" "" "g.38352778G>A" "" "VUS" "" "0000182920" "1" "50" "X" "38226541" "38226541" "subst" "0" "02152" "OTC_000312" "g.38226541C>G" "" "Bisanzi 2002" "" "" "OTC activity below 5%" "Germline" "" "" "0" "" "" "g.38367288C>G" "" "VUS" "" "0000182921" "1" "50" "X" "38226543" "38226543" "subst" "0" "02152" "OTC_000314" "g.38226543G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367290G>C" "" "VUS" "" "0000182922" "1" "50" "X" "38226560" "38226560" "subst" "0" "02152" "OTC_000108" "g.38226560C>T" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "" "" "" "Germline" "" "" "0" "" "" "g.38367307C>T" "" "VUS" "" "0000182923" "1" "50" "X" "38226572" "38226572" "subst" "0" "02152" "OTC_000181" "g.38226572C>T" "" "{PMID:Genet 2000:11117428}" "Fnu4HI;CviRI" "" "" "Germline" "" "" "0" "" "" "g.38367319C>T" "" "VUS" "" "0000182924" "1" "50" "X" "38226581" "38226581" "subst" "0" "02152" "OTC_000140" "g.38226581G>T" "" "Calvas 1998" "HaeIII;Sau96I" "" "" "Germline" "" "" "0" "" "" "g.38367328G>T" "" "VUS" "" "0000182925" "1" "50" "X" "38226584" "38226584" "subst" "1.12057E-5" "02152" "OTC_000060" "g.38226584C>T" "" "Oppliger Leibundgut 1995" "HaeIII" "" "" "Germline" "" "" "0" "" "" "g.38367331C>T" "" "VUS" "" "0000182926" "1" "50" "X" "38226585" "38226585" "subst" "0" "02152" "OTC_000046" "g.38226585G>A" "" "{PMID:Tuchman 1994b:07951259}" "MaeIII;Tsp45I" "" "OTC activity 6%" "Germline" "" "" "0" "" "" "g.38367332G>A" "" "VUS" "" "0000182927" "1" "50" "X" "38226588" "38226588" "subst" "0" "02152" "OTC_000334" "g.38226588A>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367335A>G" "" "VUS" "" "0000182928" "1" "50" "X" "38226593" "38226593" "subst" "0" "02152" "OTC_000102" "g.38226593C>T" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "" "" "" "Germline" "" "" "0" "" "" "g.38367340C>T" "" "VUS" "" "0000182929" "1" "50" "X" "38226597" "38226597" "subst" "0" "02152" "OTC_000079" "g.38226597C>T" "" "{PMID:Yoo 1996:08830175}; {PMID:Kim 2006:17041896}" "" "" "OTC activity 0, Serum Ammonia 389, Urine orotic acid 238, Serum citrulline 28.0" "Germline" "" "" "0" "" "" "g.38367344C>T" "" "VUS" "" "0000182930" "1" "50" "X" "38226599" "38226599" "subst" "0" "02152" "OTC_000141" "g.38226599C>G" "" "{PMID:Tuchman 1998:09686344}" "HpyCH4III;TspRI" "" "" "Germline" "" "" "0" "" "" "g.38367346C>G" "" "VUS" "" "0000182931" "1" "50" "X" "38226600" "38226600" "subst" "0" "02152" "OTC_000004" "g.38226600T>C" "" "Grompe 1989" "" "" "" "Germline" "" "" "0" "" "" "g.38367347T>C" "" "VUS" "" "0000182932" "1" "10" "X" "38226600" "38226600" "subst" "0" "00006" "OTC_000004" "g.38226600T>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "47 individuals tested" "Germline" "" "" "0" "" "" "g.38367347T>G" "" "benign" "" "0000182933" "1" "10" "X" "38226600" "38226600" "subst" "0" "00006" "OTC_000004" "g.38226600T>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.38367347T>G" "" "benign" "" "0000182934" "1" "50" "X" "38226606" "38226606" "dup" "0" "02152" "OTC_000351" "g.38226606dup" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367353dup" "" "VUS" "" "0000182935" "1" "10" "X" "38226603" "38226603" "subst" "0" "00006" "OTC_000387" "g.38226603A>C" "" "{PMID:Mitchell 2009:18666241}" "" "" "47 individuals tested" "Germline" "" "" "0" "" "" "g.38367350A>C" "" "benign" "" "0000182936" "1" "10" "X" "38226603" "38226603" "subst" "0" "00006" "OTC_000387" "g.38226603A>C" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.38367350A>C" "" "benign" "" "0000182937" "1" "50" "X" "38226603" "38226603" "subst" "0.18691" "02152" "OTC_000005" "g.38226603A>G" "0.36" "Grompe 1989" "DdeI" "" "" "Germline" "" "rs1800321" "0" "" "" "g.38367350A>G" "" "VUS" "" "0000182938" "1" "10" "X" "38226603" "38226603" "subst" "0.18691" "00006" "OTC_000005" "g.38226603A>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "100 individuals tested" "Germline" "" "rs1800321" "0" "" "" "g.38367350A>G" "" "benign" "" "0000182939" "20" "10" "X" "38226603" "38226603" "subst" "0.18691" "00006" "OTC_000005" "g.38226603A>G" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "rs1800321" "0" "" "" "g.38367350A>G" "" "benign" "" "0000182940" "10" "10" "X" "38226603" "38226603" "subst" "0.18691" "00006" "OTC_000005" "g.38226603A>G" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "rs1800321" "0" "" "" "g.38367350A>G" "" "benign" "" "0000182941" "1" "10" "X" "38226603" "38226603" "subst" "0.18691" "00006" "OTC_000005" "g.38226603A>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "rs1800321" "0" "" "" "g.38367350A>G" "" "benign" "" "0000182942" "20" "10" "X" "38226603" "38226603" "subst" "0.18691" "00006" "OTC_000005" "g.38226603A>G" "33/208" "{PMID:Tarpey 2009:19377476}" "?" "" "recurrent variant" "Germline" "" "rs1800321" "0" "" "" "g.38367350A>G" "" "benign" "" "0000182943" "1" "50" "X" "38226606" "38226606" "subst" "0.000167985" "02152" "OTC_000359" "g.38226606A>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367353A>C" "" "VUS" "" "0000182944" "1" "50" "X" "38226606" "38226606" "subst" "0" "02152" "OTC_000103" "g.38226606A>T" "" "{PMID:Tuchman 1997:09266388}" "" "" "" "Germline" "" "" "0" "" "" "g.38367353A>T" "" "VUS" "" "0000182945" "1" "50" "X" "38226606" "38226606" "del" "0" "02152" "OTC_000142" "g.38226606del" "" "Calvas 1998" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38367353del" "" "VUS" "" "0000182946" "1" "50" "X" "38226606" "38226607" "ins" "0" "02152" "OTC_000143" "g.38226606_38226607insG" "" "{PMID:Shimadzu 1998:09452024}" "HindIII;AluI" "" "" "Germline" "" "" "0" "" "" "g.38367353_38367354insG" "" "VUS" "" "0000182947" "1" "50" "X" "38226609" "38226609" "subst" "0" "02152" "OTC_000182" "g.38226609T>C" "" "{PMID:Genet 2000:11117428}" "" "" "" "Germline" "" "" "0" "" "" "g.38367356T>C" "" "VUS" "" "0000182948" "1" "50" "X" "38226611" "38226611" "subst" "0" "02152" "OTC_000360" "g.38226611A>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367358A>C" "" "VUS" "" "0000182949" "1" "50" "X" "38226614" "38226614" "subst" "5.03987E-5" "02152" "OTC_000104" "g.38226614G>A" "" "{PMID:Tuchman 1997:09266388}" "MspI;HpaII" "" "" "Germline" "" "" "0" "" "" "g.38367361G>A" "" "VUS" "" "0000182950" "1" "50" "X" "38226615" "38226615" "subst" "1.11972E-5" "02152" "OTC_000020" "g.38226615G>T" "" "Feldmann 1992" "HpaII;Ddel" "" "" "Germline" "" "" "0" "" "" "g.38367362G>T" "" "VUS" "" "0000182951" "1" "50" "X" "38226620" "38226620" "subst" "0" "02152" "OTC_000183" "g.38226620G>A" "" "{PMID:McCullough 2000:10946359}" "MboII" "" "" "Germline" "" "" "0" "" "" "g.38367367G>A" "" "VUS" "" "0000182952" "1" "50" "X" "38226620" "38226620" "subst" "0" "02152" "OTC_000184" "g.38226620G>T" "" "{PMID:McCullough 2000:10946359}" "MboII" "" "" "Germline" "" "" "0" "" "" "g.38367367G>T" "" "VUS" "" "0000182953" "1" "50" "X" "38226621" "38226621" "subst" "0" "02152" "OTC_000362" "g.38226621A>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367368A>G" "" "VUS" "" "0000182954" "1" "50" "X" "38226622" "38226622" "subst" "0" "02152" "OTC_000185" "g.38226622A>T" "" "{PMID:McCullough 2000:10946359}" "Tsp509I" "" "OTC activity 4%" "Germline" "" "" "0" "" "" "g.38367369A>T" "" "VUS" "" "0000182955" "1" "50" "X" "38226624" "38226624" "subst" "0" "02152" "OTC_000363" "g.38226624T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367371T>C" "" "VUS" "" "0000182956" "1" "50" "X" "38226624" "38226624" "subst" "0" "02152" "OTC_000214" "g.38226624T>G" "" "{PMID:Tuchman 2002:11793468}" "MseI;TspEI" "" "" "Germline" "" "" "0" "" "" "g.38367371T>G" "" "VUS" "" "0000182957" "1" "50" "X" "38226629" "38226629" "subst" "0" "02152" "OTC_000144" "g.38226629T>G" "" "Nishiyori 1998" "" "" "OTC activity 28%" "Germline" "" "" "0" "" "" "g.38367376T>G" "" "VUS" "" "0000182958" "1" "50" "X" "38226633" "38226633" "subst" "0" "02152" "OTC_000105" "g.38226633T>C" "" "{PMID:Tuchman 1997:09266388}" "" "" "OTC activity -54%" "Germline" "" "" "0" "" "" "g.38367380T>C" "" "VUS" "" "0000182959" "1" "50" "X" "38226636" "38226636" "subst" "0" "02152" "OTC_000364" "g.38226636T>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367383T>A" "" "VUS" "" "0000182960" "1" "50" "X" "38226640" "38226640" "subst" "0" "02152" "OTC_000366" "g.38226640G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367387G>A" "" "VUS" "" "0000182961" "1" "50" "X" "38226645" "38226645" "subst" "0" "02152" "OTC_000106" "g.38226645C>T" "" "{PMID:Tuchman 1997:09266388}" "" "" "" "Germline" "" "" "0" "" "" "g.38367392C>T" "" "VUS" "" "0000182962" "1" "50" "X" "38226654" "38226654" "subst" "0" "02152" "OTC_000107" "g.38226654T>C" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "BgIII;XhoII" "" "" "Germline" "" "" "0" "" "" "g.38367401T>C" "" "VUS" "" "0000182963" "1" "50" "X" "38226666" "38226666" "subst" "0" "02152" "OTC_000367" "g.38226666T>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38367413T>G" "" "VUS" "" "0000182965" "1" "50" "X" "38226683" "38226683" "subst" "0" "02152" "OTC_000080" "g.38226683G>A" "" "Oppliger Leibundgut 1996a" "" "c.IVS2+1G>A" "" "Germline" "" "" "0" "" "" "g.38367430G>A" "" "VUS" "" "0000182966" "1" "50" "X" "38226683" "38226683" "subst" "0" "02152" "OTC_000368" "g.38226683G>T" "" "Azevedo 2002" "" "" "OTC activity 10%" "Germline" "" "" "0" "" "" "g.38367430G>T" "" "VUS" "" "0000182967" "21" "90" "X" "38218050" "38227156" "del" "0" "00006" "OTC_000394" "g.38218050_38227156del" "" "{PMID:Engel 2008:18440262}" "" "" "9095 bpdeletion (incl. exon 2)" "Germline" "" "" "0" "" "" "g.38358797_38367903del" "" "pathogenic" "" "0000182968" "1" "50" "X" "38229048" "38229048" "subst" "0" "02152" "OTC_000021" "g.38229048G>A" "" "{PMID:Tuchman 1992:1480464}" "" "c.IVS2-1G>A" "" "Germline" "" "" "0" "" "" "g.38369795G>A" "" "VUS" "" "0000182969" "1" "50" "X" "38229059" "38229059" "subst" "0" "02152" "OTC_000186" "g.38229059T>C" "" "{PMID:Genet 2000:11117428}" "" "" "" "Germline" "" "" "0" "" "" "g.38369806T>C" "" "VUS" "" "0000182970" "1" "50" "X" "38229063" "38229063" "subst" "0" "02152" "OTC_000187" "g.38229063G>T" "" "{PMID:McCullough 2000:10946359}" "CviRI;MwoI" "" "OTC activity -35%" "Germline" "" "" "0" "" "" "g.38369810G>T" "" "VUS" "" "0000182971" "1" "50" "X" "38229064" "38229064" "subst" "0" "02152" "OTC_000369" "g.38229064C>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38369811C>T" "" "VUS" "" "0000182972" "1" "50" "X" "38229066" "38229066" "subst" "0" "02152" "OTC_000215" "g.38229066A>G" "<0.01" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "Germline" "" "" "0" "" "" "g.38369813A>G" "" "VUS" "" "0000182973" "1" "50" "X" "38229068" "38229068" "subst" "0" "02152" "OTC_000022" "g.38229068G>A" "" "{PMID:Tuchman 1992:1480464}" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38369815G>A" "" "VUS" "" "0000182974" "1" "50" "X" "38229070" "38229070" "subst" "0" "02152" "OTC_000188" "g.38229070A>G" "" "Schulz and Salo 2000" "HinfI;PleI" "" "" "Germline" "" "" "0" "" "" "g.38369817A>G" "" "VUS" "" "0000182975" "1" "50" "X" "38229072" "38229072" "subst" "0" "02152" "OTC_000189" "g.38229072G>T" "" "Galloway 2000" "EcoRI;Tsp509I" "" "" "Germline" "" "" "0" "" "" "g.38369819G>T" "" "VUS" "" "0000182976" "1" "50" "X" "38229075" "38229077" "del" "0" "02152" "OTC_000061" "g.38229075_38229077del" "" "{PMID:Tuchman and Plante 1995:07627182}" "Ddel;Bsu36I" "" "" "Germline" "" "" "0" "" "" "g.38369822_38369824del" "" "VUS" "" "0000182977" "1" "50" "X" "38229077" "38229077" "subst" "0" "02152" "OTC_000216" "g.38229077T>G" "" "{PMID:Tuchman 2002:11793468}" "BseMII;MnII" "" "" "Germline" "" "" "0" "" "" "g.38369824T>G" "" "VUS" "" "0000182978" "1" "50" "X" "38229079" "38229079" "subst" "0" "02152" "OTC_000109" "g.38229079G>C" "" "{PMID:Tuchman 1997:09266388}" "Bsu36I" "" "" "Germline" "" "" "0" "" "" "g.38369826G>C" "" "VUS" "" "0000182979" "1" "50" "X" "38229080" "38229080" "subst" "0" "02152" "OTC_000146" "g.38229080G>A" "" "Bartholomew and McClellan1998" "CvnI" "" "" "Germline" "" "" "0" "" "" "g.38369827G>A" "" "VUS" "" "0000182980" "1" "50" "X" "38229091" "38229091" "subst" "0" "02152" "OTC_000023" "g.38229091G>A" "" "Feldmann 1992" "MseI" "" "" "Germline" "" "" "0" "" "" "g.38369838G>A" "" "VUS" "" "0000182981" "1" "50" "X" "38229096" "38229096" "subst" "0" "02152" "OTC_000033" "g.38229096A>T" "" "Reish 1993" "" "" "OTC activity 3%" "Germline" "" "" "0" "" "" "g.38369843A>T" "" "VUS" "" "0000182982" "1" "50" "X" "38229100" "38229100" "subst" "0" "02152" "OTC_000371" "g.38229100A>G" "" "Takanashi 2002" "" "" "OTC activity below 20%" "Germline" "" "" "0" "" "" "g.38369847A>G" "" "VUS" "" "0000182983" "1" "50" "X" "38229101" "38229101" "subst" "0" "02152" "OTC_000190" "g.38229101G>A" "" "{PMID:McCullough 2000:10946359}" "ScaI;RsaI" "" "" "Germline" "" "" "0" "" "" "g.38369848G>A" "" "VUS" "" "0000182984" "1" "50" "X" "38229102" "38229102" "subst" "0" "02152" "OTC_000147" "g.38229102T>G" "" "{PMID:Tuchman 1998:09686344}" "ScaI;RsaI" "" "" "Germline" "" "" "0" "" "" "g.38369849T>G" "" "VUS" "" "0000182985" "1" "50" "X" "38229103" "38229103" "del" "0" "02152" "OTC_000191" "g.38229103del" "" "{PMID:Genet 2000:11117428}" "ScaI;TatI" "" "" "Germline" "" "" "0" "" "" "g.38369850del" "" "VUS" "" "0000182986" "1" "50" "X" "38229106" "38229106" "subst" "0" "02152" "OTC_000372" "g.38229106C>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "CpG dinucleotide" "Germline" "" "" "0" "" "" "g.38369853C>G" "" "VUS" "" "0000182987" "1" "50" "X" "38229106" "38229106" "subst" "0" "02152" "OTC_000012" "g.38229106C>T" "" "Grompe 1991" "TaqI" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38369853C>T" "" "VUS" "" "0000182988" "1" "50" "X" "38229106" "38229106" "subst" "0" "02152" "OTC_000012" "g.38229106C>T" "" "{PMID:Kim 2006:17041896}" "TaqI" "" "OTC activity ?, Serum ammonia 879, Urine orotic acid 3750, Serum citrulline 11.0," "Germline" "" "" "0" "" "" "g.38369853C>T" "" "VUS" "" "0000182989" "1" "50" "X" "38229107" "38229107" "subst" "0" "02152" "OTC_000013" "g.38229107G>A" "" "Grompe 1991" "TaqI" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38369854G>A" "" "VUS" "" "0000182990" "1" "50" "X" "38229107" "38229107" "subst" "0" "02152" "OTC_000374" "g.38229107G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "CpG dinucleotide" "Germline" "" "" "0" "" "" "g.38369854G>C" "" "VUS" "" "0000182991" "1" "50" "X" "38229107" "38229107" "subst" "0" "02152" "OTC_000373" "g.38229107G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "CpG dinucleotide" "Germline" "" "" "0" "" "" "g.38369854G>T" "" "VUS" "" "0000182992" "1" "50" "X" "38229109" "38229109" "subst" "0" "02152" "OTC_000062" "g.38229109A>G" "" "{PMID:Tuchman and Plante 1995:07627182}" "AvaI;XhoI" "" "Carbamyl phosphate binding site" "Germline" "" "" "0" "" "" "g.38369856A>G" "" "VUS" "" "0000182993" "1" "50" "X" "38229113" "38229113" "subst" "0" "02152" "OTC_000024" "g.38229113G>C" "" "{PMID:Tuchman 1992:1480464}" "" "" "Carbamyl phosphate binding site" "Germline" "" "" "0" "" "" "g.38369860G>C" "" "VUS" "" "0000182994" "1" "50" "X" "38229116" "38229116" "subst" "0" "02152" "OTC_000192" "g.38229116T>C" "" "{PMID:McCullough 2000:10946359}" "DpnI;MboI" "" "" "Germline" "" "" "0" "" "" "g.38369863T>C" "" "VUS" "" "0000182995" "1" "50" "X" "38229124" "38229124" "subst" "0" "02152" "OTC_000376" "g.38229124G>A" "" "Bisanzi 2002" "" "" "OTC activity 33%" "Germline" "" "" "0" "" "" "g.38369871G>A" "" "VUS" "" "0000182996" "1" "50" "X" "38229049" "38229130" "del" "0" "02152" "OTC_000145" "g.38229049_38229130del" "" "{PMID:Tuchman 1998:09686344}" "PsiI;SspI" "" "deletion exon 3\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38369796_38369877del" "" "VUS" "" "0000182997" "1" "50" "X" "38229130" "38229130" "subst" "0" "02152" "OTC_000265" "g.38229130G>C" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity 17.0, Serum ammonia 223, Urine orotic acid 72, Serum citrulline 5.5," "Germline" "" "" "0" "" "" "g.38369877G>C" "" "VUS" "" "0000182998" "1" "50" "X" "38229131" "38229131" "subst" "0" "02152" "OTC_000063" "g.38229131G>A" "" "Garcia_Perez 1995" "" "c.IVS3+1G>A" "" "Germline" "" "" "0" "" "" "g.38369878G>A" "" "VUS" "" "0000182999" "1" "50" "X" "38229131" "38229131" "subst" "0" "02152" "OTC_000377" "g.38229131G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38369878G>T" "" "VUS" "" "0000183000" "1" "90" "X" "38229131" "38229135" "del" "0" "02152" "OTC_000110" "g.38229131_38229135del" "" "{PMID:Tuchman 1997:09266388}" "HpyCH4III" "c.IVS3+1_5delGTAAG" "" "Germline" "" "" "0" "" "" "g.38369878_38369882del" "" "pathogenic" "" "0000183001" "1" "50" "X" "38229135" "38229135" "subst" "0.00156375" "02152" "OTC_000378" "g.38229135G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38369882G>C" "" "VUS" "" "0000183002" "1" "50" "X" "38240561" "38240561" "dup" "0" "02152" "OTC_000218" "g.38240561dup" "0.34" "{PMID:Climent and Rubio 2002:12402347}" "" "" "" "Germline" "" "" "0" "" "" "g.38381308dup" "" "VUS" "" "0000183003" "10" "10" "X" "38240561" "38240561" "dup" "0" "00006" "OTC_000218" "g.38240561dup" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "" "0" "" "" "g.38381308dup" "" "benign" "" "0000183004" "1" "10" "X" "38240569" "38240569" "subst" "0" "00006" "OTC_000388" "g.38240569A>T" "" "{PMID:Mitchell 2009:18666241}" "" "" "47 individuals tested" "Germline" "" "" "0" "" "" "g.38381316A>T" "" "benign" "" "0000183005" "1" "10" "X" "38240569" "38240569" "subst" "0" "00006" "OTC_000388" "g.38240569A>T" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.38381316A>T" "" "benign" "" "0000183006" "10" "10" "X" "38240577" "38240577" "subst" "0" "00006" "OTC_000393" "g.38240577C>T" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "" "0" "" "" "g.38381324C>T" "" "benign" "" "0000183007" "1" "50" "X" "38240587" "38240587" "dup" "0" "02152" "OTC_000034" "g.38240587dup" "1.00" "{PMID:Climent and Rubio 2002:12402347}" "" "299-17_299-16insT" "" "Germline" "" "" "0" "" "" "g.38381334dup" "" "VUS" "" "0000183008" "1" "50" "X" "38240587" "38240587" "dup" "0" "02152" "OTC_000034" "g.38240587dup" "" "Matsuura 1993" "" "c.IVS3-17insT" "" "Germline" "" "" "0" "" "" "g.38381334dup" "" "VUS" "" "0000183009" "1" "50" "X" "38240587" "38240587" "subst" "0.150976" "02152" "OTC_000064" "g.38240587T>A" "0.50" "{PMID:Tuchman and Plante 1995:07627182}" "MseI;Tsp509I" "c.IVS3-8A>T" "" "Germline" "" "" "0" "" "" "g.38381334T>A" "" "VUS" "" "0000183010" "1" "10" "X" "38240587" "38240587" "subst" "0.150976" "00006" "OTC_000064" "g.38240587T>A" "" "{PMID:Mitchell 2009:18666241}" "" "" "100 individuals tested" "Germline" "" "" "0" "" "" "g.38381334T>A" "" "benign" "" "0000183011" "10" "10" "X" "38240587" "38240587" "subst" "0.150976" "00006" "OTC_000064" "g.38240587T>A" "" "{PMID:Engel 2008:18440262}" "" "299-8A>T" "" "Germline" "" "" "0" "" "" "g.38381334T>A" "" "benign" "" "0000183012" "1" "10" "X" "38240587" "38240587" "subst" "0.150976" "00006" "OTC_000064" "g.38240587T>A" "" "{PMID:Mitchell 2009:18666241}" "" "299-8A>T" "" "Germline" "" "" "0" "" "" "g.38381334T>A" "" "benign" "" "0000183013" "1" "10" "X" "38240588" "38240588" "subst" "0" "00006" "OTC_000389" "g.38240588A>T" "" "{PMID:Mitchell 2009:18666241}" "" "" "47 individuals tested" "Germline" "" "" "0" "" "" "g.38381335A>T" "" "benign" "" "0000183014" "1" "10" "X" "38240588" "38240588" "subst" "0" "00006" "OTC_000389" "g.38240588A>T" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.38381335A>T" "" "benign" "" "0000183015" "1" "50" "X" "38240595" "38240595" "subst" "0" "02152" "OTC_000112" "g.38240595G>A" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "AccI;EspI" "" "" "Germline" "" "" "0" "" "" "g.38381342G>A" "" "VUS" "" "0000183016" "1" "50" "X" "38240599" "38240599" "subst" "0" "02152" "OTC_000065" "g.38240599T>A" "0.01" "{PMID:Tuchman and Plante 1995:07627182}" "EspI;DdeI" "" "" "Germline" "" "" "0" "" "" "g.38381346T>A" "" "VUS" "" "0000183017" "10" "10" "X" "38240599" "38240599" "subst" "0" "00006" "OTC_000065" "g.38240599T>A" "" "{PMID:Engel 2008:18440262}" "" "303A>T" "" "Germline" "" "" "0" "" "" "g.38381346T>A" "" "benign" "" "0000183018" "1" "50" "X" "38240601" "38240601" "subst" "0" "02152" "OTC_000113" "g.38240601C>A" "" "{PMID:Tuchman 1997:09266388}" "EspI" "" "" "Germline" "" "" "0" "" "" "g.38381348C>A" "" "VUS" "" "0000183019" "1" "50" "X" "38240610" "38240610" "subst" "0" "02152" "OTC_000380" "g.38240610G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38381357G>T" "" "VUS" "" "0000183020" "1" "50" "X" "38240612" "38240612" "subst" "0" "02152" "OTC_000193" "g.38240612G>A" "" "{PMID:McCullough 2000:10946359}" "MboII;MnII" "" "" "Germline" "" "" "0" "" "" "g.38381359G>A" "" "VUS" "" "0000183021" "1" "50" "X" "38240613" "38240613" "subst" "0" "02152" "OTC_000381" "g.38240613G>A" "" "Takanashi 2002" "" "" "OTC activity below 20%" "Germline" "" "" "0" "" "" "g.38381360G>A" "" "VUS" "" "0000183022" "1" "50" "X" "38240613" "38240613" "subst" "0" "02152" "OTC_000382" "g.38240613G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38381360G>T" "" "VUS" "" "0000183023" "1" "50" "X" "38240623" "38240626" "del" "0" "02152" "OTC_000148" "g.38240623_38240626delT" "" "Calvas 1998" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38381370_38381373delT" "" "VUS" "" "0000183024" "1" "50" "X" "38240628" "38240628" "subst" "0" "02152" "OTC_000014" "g.38240628T>C" "<0.01" "Grompe 1991" "" "" "" "Germline" "" "" "0" "" "" "g.38381375T>C" "" "VUS" "" "0000183025" "10" "10" "X" "38240628" "38240628" "subst" "0" "00006" "OTC_000014" "g.38240628T>C" "" "{PMID:Engel 2008:18440262}" "" "332C>T" "" "Germline" "" "" "0" "" "" "g.38381375T>C" "" "benign" "" "0000183026" "1" "50" "X" "38240646" "38240646" "subst" "0" "02152" "OTC_000383" "g.38240646A>G" "" "Matsuura and Matsuda 1998" "" "" "OTC activity 18%" "Germline" "" "" "0" "" "" "g.38381393A>G" "" "VUS" "" "0000183027" "1" "50" "X" "38240646" "38240646" "subst" "0" "02152" "OTC_000047" "g.38240646A>T" "" "{PMID:Tuchman 1994a:08019569}" "MsII" "" "" "Germline" "" "" "0" "" "" "g.38381393A>T" "" "VUS" "" "0000183028" "1" "50" "X" "38240655" "38240656" "del" "0" "02152" "OTC_000384" "g.38240655_38240656del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38381402_38381403del" "" "VUS" "" "0000183029" "1" "50" "X" "38240660" "38240661" "ins" "0" "02152" "OTC_000385" "g.38240660_38240661insTT" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38381407_38381408insTT" "" "VUS" "" "0000183030" "1" "50" "X" "38240670" "38240670" "subst" "1.6855E-5" "02152" "OTC_000081" "g.38240670C>T" "" "Gilbert_Dussardier 1996" "NlaII" "" "OTC activity below 1%" "Germline" "" "" "0" "" "" "g.38381417C>T" "" "VUS" "" "0000183031" "1" "50" "X" "38240672" "38240672" "del" "0" "02152" "OTC_000276" "g.38240672del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38381419del" "" "VUS" "" "0000183032" "1" "50" "X" "38240673" "38240673" "subst" "0" "02152" "OTC_000048" "g.38240673A>G" "" "Matsuura 1994" "SduI;BseSI" "" "" "Germline" "" "" "0" "" "" "g.38381420A>G" "" "VUS" "" "0000183033" "1" "50" "X" "38240682" "38240682" "subst" "0" "02152" "OTC_000049" "g.38240682G>A" "" "{PMID:Tuchman 1994b:07951259}" "MspI" "" "Donor splice site error, identical to mutation in spfASH mouse" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "VUS" "" "0000183034" "1" "50" "X" "38240682" "38240682" "subst" "0" "02152" "OTC_000277" "g.38240682G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "CpG dinucleotide, possible donor splice site error" "Germline" "" "" "0" "" "" "g.38381429G>C" "" "VUS" "" "0000183035" "1" "50" "X" "38240682" "38240682" "subst" "0" "02152" "OTC_000035" "g.38240682G>T" "" "Strautnieks and Malcolm 1993" "MspI" "" "CpG dinucleotide" "Germline" "" "" "0" "" "" "g.38381429G>T" "" "VUS" "" "0000183036" "1" "50" "X" "38240683" "38240683" "subst" "0" "02152" "OTC_000279" "g.38240683G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38381430G>A" "" "VUS" "" "0000183037" "1" "50" "X" "38240683" "38240683" "subst" "0" "02152" "OTC_000278" "g.38240683G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.38381430G>T" "" "VUS" "" "0000183038" "1" "50" "X" "38240684" "38240684" "subst" "0" "02152" "OTC_000280" "g.38240684T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38381431T>C" "" "VUS" "" "0000183039" "1" "50" "X" "38240690" "38240690" "subst" "0" "02152" "OTC_000066" "g.38240690A>G" "0.02" "{PMID:Tuchman and Plante 1995:07627182}" "SspI" "IVS4+8A>G" "" "Germline" "" "" "0" "" "" "g.38381437A>G" "" "VUS" "" "0000183040" "10" "10" "X" "38240690" "38240690" "subst" "0" "00006" "OTC_000066" "g.38240690A>G" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "" "0" "" "" "g.38381437A>G" "" "benign" "" "0000183041" "1" "50" "X" "38260521" "38260521" "subst" "0" "02152" "OTC_000036" "g.38260521A>G" "0.29" "Matsuura 1993" "" "IVS4-7A>G" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38401268A>G" "" "VUS" "" "0000183042" "1" "50" "X" "38260526" "38260526" "subst" "0" "02152" "OTC_000194" "g.38260526A>C" "" "{PMID:McCullough 2000:10946359}" "TspRI" "IVS4-2A>C" "" "Germline" "" "" "0" "" "" "g.38401273A>C" "" "VUS" "" "0000183043" "1" "50" "X" "38260526" "38260526" "subst" "0" "02152" "OTC_000195" "g.38260526A>G" "" "{PMID:McCullough 2000:10946359}" "TspRI;BtgI" "IVS4-2A>G" "" "Germline" "" "" "0" "" "" "g.38401273A>G" "" "VUS" "" "0000183044" "1" "50" "X" "38260526" "38260526" "subst" "0" "02152" "OTC_000015" "g.38260526A>T" "" "{PMID:Carstens 1991:02035531}" "" "IVS4-2A>T" "error, skipping first 12 bp of Exon 5" "Germline" "" "" "0" "" "" "g.38401273A>T" "" "VUS" "" "0000183045" "20" "30" "X" "38260528" "38260528" "subst" "0" "00006" "OTC_000399" "g.38260528T>A" "1/208" "{PMID:Tarpey 2009:19377476}" "?" "" "non-recurrent variant" "Germline" "" "" "0" "" "" "g.38401275T>A" "" "likely benign" "" "0000183046" "1" "50" "X" "38260531" "38260533" "dup" "0" "02152" "OTC_000219" "g.38260531_38260533dupTTA" "" "{PMID:Tuchman 2002:11793468}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38401278_38401280dupTTA" "" "VUS" "" "0000183047" "1" "50" "X" "38260533" "38260533" "subst" "0" "02152" "OTC_000281" "g.38260533T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401280T>C" "" "VUS" "" "0000183048" "1" "50" "X" "38260535" "38260535" "subst" "0" "02152" "OTC_000282" "g.38260535T>C" "" "Bisanzi 2002" "" "" "" "Germline" "" "" "0" "" "" "g.38401282T>C" "" "VUS" "" "0000183049" "1" "50" "X" "38260536" "38260536" "subst" "0" "02152" "OTC_000283" "g.38260536C>T" "" "Gyato 2004" "" "" "OTC activity 78.6%" "Germline" "" "" "0" "" "" "g.38401283C>T" "" "VUS" "" "0000183050" "1" "50" "X" "38260544" "38260544" "del" "0" "02152" "OTC_000025" "g.38260544del" "" "{PMID:Tuchman 1992:1480464}" "SphI;NspI" "" "" "Germline" "" "" "0" "" "" "g.38401291del" "" "VUS" "" "0000183051" "1" "50" "X" "38260545" "38260545" "subst" "0" "02152" "OTC_000284" "g.38260545C>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401292C>A" "" "VUS" "" "0000183052" "1" "50" "X" "38260548" "38260548" "subst" "0" "02152" "OTC_000285" "g.38260548A>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401295A>T" "" "VUS" "" "0000183053" "1" "50" "X" "38260550" "38260550" "subst" "5.61918E-6" "02152" "OTC_000286" "g.38260550G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401297G>A" "" "VUS" "" "0000183054" "1" "50" "X" "38260557" "38260557" "subst" "0" "02152" "OTC_000114" "g.38260557T>C" "" "{PMID:Tuchman 1997:09266388}" "" "" "" "Germline" "" "" "0" "" "" "g.38401304T>C" "" "VUS" "" "0000183055" "1" "50" "X" "38260559" "38260559" "subst" "0" "02152" "OTC_000261" "g.38260559G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401306G>C" "" "VUS" "" "0000183056" "1" "50" "X" "38260559" "38260559" "subst" "0" "02152" "OTC_000261" "g.38260559G>C" "" "{PMID:Kim 2006:17041896}" "" "" "OTC activity ?, Serum ammonia 340, Urine orotic acid NAf, Serum citrulline NA," "Germline" "" "" "0" "" "" "g.38401306G>C" "" "VUS" "" "0000183057" "1" "50" "X" "38260562" "38260562" "subst" "0" "02152" "OTC_000288" "g.38260562C>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "CpG dinucleotide" "Germline" "" "" "0" "" "" "g.38401309C>G" "" "VUS" "" "0000183058" "1" "50" "X" "38260562" "38260562" "subst" "0" "02152" "OTC_000006" "g.38260562C>T" "" "{PMID:Hata 1989:02741942}; {OMIM300461:0003}" "TaqI;XhoI" "" "CpG dinucleotide" "Germline" "" "" "0" "" "" "g.38401309C>T" "" "VUS" "" "0000183059" "1" "50" "X" "38260562" "38260562" "subst" "0" "02152" "OTC_000006" "g.38260562C>T" "" "{PMID:Maddalena 1988:03170748}; {OMIM300461:0003}" "TaqI;XhoI" "" "CpG dinucleotide" "Germline" "" "" "0" "" "" "g.38401309C>T" "" "VUS" "" "0000183060" "1" "50" "X" "38260563" "38260563" "subst" "0" "02152" "OTC_000002" "g.38260563G>A" "" "{PMID:Maddalena 1988:03170748}; {PMID:Lee and Nussbaum 1989:02556444}; {OMIM300461:0002}" "TaqI;XhoI" "" "OTC activity below 0.01%" "Germline" "" "" "0" "" "" "g.38401310G>A" "" "VUS" "" "0000183061" "1" "50" "X" "38260563" "38260563" "subst" "0" "02152" "OTC_000002" "g.38260563G>A" "" "{PMID:Strautnieks 1991:1757964}; {PMID:Lee and Nussbaum 1989:2556444}" "TaqI;XhoI" "" "OTC activity below 0.01%" "Germline" "" "" "0" "" "" "g.38401310G>A" "" "VUS" "" "0000183062" "1" "50" "X" "38260563" "38260563" "subst" "0" "02152" "OTC_000002" "g.38260563G>A" "" "{PMID:Suess 1992:1627356}; {PMID:Lee and Nussbaum 1989:2556444}" "TaqI;XhoI" "" "OTC activity below 0.01%" "Germline" "" "" "0" "" "" "g.38401310G>A" "" "VUS" "" "0000183063" "1" "50" "X" "38260563" "38260563" "subst" "0" "02152" "OTC_000002" "g.38260563G>A" "" "{PMID:Kim 2006:17041896}" "TaqI-" "" "OTC activity ?, Serum ammonia 547, Urine orotic acid NA, Serum citrulline NA," "Germline" "" "" "0" "" "" "g.38401310G>A" "" "VUS" "" "0000183064" "1" "50" "X" "38260563" "38260563" "subst" "0" "02152" "OTC_000002" "g.38260563G>A" "" "{PMID:Yoo 1998:09610619}; {PMID:Kim 2006:17041896}" "TaqI-" "" "OTC activity ?, Serum ammonia 487, Urine orotic acid NA, Serum citrulline NA," "Germline" "" "" "0" "" "" "g.38401310G>A" "" "VUS" "" "0000183065" "1" "50" "X" "38260563" "38260563" "subst" "0" "02152" "OTC_000002" "g.38260563G>A" "" "{PMID:Kim 2006:17041896}" "TaqI-" "" "OTC activity ?, Serum ammonia 158, Urine orotic acid 78, Serum citrulline 4.7," "Germline" "" "" "0" "" "" "g.38401310G>A" "" "VUS" "" "0000183066" "1" "50" "X" "38260563" "38260563" "subst" "0" "02152" "OTC_000115" "g.38260563G>C" "" "{PMID:Tuchman 1997:09266388}" "TaqI;XhoI" "" "" "Germline" "" "" "0" "" "" "g.38401310G>C" "" "VUS" "" "0000183067" "1" "50" "X" "38260566" "38260566" "subst" "0" "02152" "OTC_000220" "g.38260566T>A" "" "{PMID:Tuchman 2002:11793468}" "" "" "" "Germline" "" "" "0" "" "" "g.38401313T>A" "" "VUS" "" "0000183068" "1" "50" "X" "38260570" "38260570" "subst" "0.000917369" "02152" "OTC_000149" "g.38260570T>C" "0.02" "Plante and Tuchman1998" "TatI;RsaI" "" "" "Germline" "" "" "0" "" "" "g.38401317T>C" "" "VUS" "" "0000183069" "1" "50" "X" "38260571" "38260571" "subst" "0" "02152" "OTC_000067" "g.38260571A>T" "" "{PMID:Tuchman and Plante 1995:07627182}" "MseI" "" "" "Germline" "" "" "0" "" "" "g.38401318A>T" "" "VUS" "" "0000183070" "1" "50" "X" "38260578" "38260578" "subst" "0" "02152" "OTC_000196" "g.38260578C>G" "" "{PMID:Genet 2000:11117428}" "Hpy188I" "" "" "Germline" "" "" "0" "" "" "g.38401325C>G" "" "VUS" "" "0000183071" "1" "50" "X" "38260584" "38260584" "subst" "0" "02152" "OTC_000289" "g.38260584T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401331T>C" "" "VUS" "" "0000183072" "1" "50" "X" "38260584" "38260584" "subst" "0" "02152" "OTC_000197" "g.38260584T>G" "" "{PMID:McCullough 2000:10946359}" "BsmFI" "" "" "Germline" "" "" "0" "" "" "g.38401331T>G" "" "VUS" "" "0000183073" "1" "50" "X" "38260585" "38260585" "subst" "0" "02152" "OTC_000116" "g.38260585G>C" "" "Komaki 1997" "TaqI" "" "" "Germline" "" "" "0" "" "" "g.38401332G>C" "" "VUS" "" "0000183074" "1" "50" "X" "38260585" "38260585" "subst" "0" "02152" "OTC_000290" "g.38260585G>T" "" "Matsuura and Matsuda 1998" "" "" "OTC activity 17%" "Germline" "" "" "0" "" "" "g.38401332G>T" "" "VUS" "" "0000183075" "1" "50" "X" "38260592" "38260592" "del" "0" "02152" "OTC_000221" "g.38260592del" "" "{PMID:Tuchman 2002:11793468}" "ApyI;EcoRII" "" "" "Germline" "" "" "0" "" "" "g.38401339del" "" "VUS" "" "0000183076" "1" "50" "X" "38260593" "38260593" "subst" "0" "02152" "OTC_000291" "g.38260593T>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401340T>G" "" "VUS" "" "0000183077" "1" "50" "X" "38260594" "38260594" "subst" "0" "02152" "OTC_000222" "g.38260594G>T" "<0.01" "{PMID:Climent and Rubio 2002:12402347}" "SecI;BssKI;EcoRII;ScrF" "" "" "Germline" "" "" "0" "" "" "g.38401341G>T" "" "VUS" "" "0000183078" "1" "50" "X" "38260596" "38260596" "subst" "0" "02152" "OTC_000150" "g.38260596C>T" "" "Kogo 1998" "CviJI;MseI" "" "OTC activity 3.70%" "Germline" "" "" "0" "" "" "g.38401343C>T" "" "VUS" "" "0000183079" "1" "50" "X" "38260601" "38260601" "subst" "0" "02152" "OTC_000007" "g.38260601G>T" "" "Grompe 1989" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38401348G>T" "" "VUS" "" "0000183080" "1" "50" "X" "38260604" "38260604" "subst" "0" "02152" "OTC_000292" "g.38260604G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401351G>C" "" "VUS" "" "0000183081" "1" "50" "X" "38260604" "38260604" "subst" "0" "02152" "OTC_000223" "g.38260604G>T" "" "{PMID:Tuchman 2002:11793468}" "HinfI;TfiI" "" "" "Germline" "" "" "0" "" "" "g.38401351G>T" "" "VUS" "" "0000183082" "1" "50" "X" "38260605" "38260605" "subst" "0" "02152" "OTC_000293" "g.38260605C>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401352C>A" "" "VUS" "" "0000183083" "1" "50" "X" "38260617" "38260617" "subst" "0" "02152" "OTC_000068" "g.38260617T>C" "" "Garcia_Perez 1995" "Tsp509I" "" "OTC activity 1.50%" "Germline" "" "" "0" "" "" "g.38401364T>C" "" "VUS" "" "0000183084" "1" "50" "X" "38260620" "38260620" "subst" "0" "02152" "OTC_000294" "g.38260620T>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401367T>A" "" "VUS" "" "0000183085" "1" "50" "X" "38260620" "38260620" "subst" "0" "02152" "OTC_000295" "g.38260620T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401367T>C" "" "VUS" "" "0000183086" "1" "50" "X" "38260620" "38260620" "subst" "0" "02152" "OTC_000224" "g.38260620T>G" "" "{PMID:Climent and Rubio 2002:11793483}" "BsrDI" "" "" "Germline" "" "" "0" "" "" "g.38401367T>G" "" "VUS" "" "0000183087" "1" "50" "X" "38260622" "38260622" "subst" "0" "02152" "OTC_000198" "g.38260622A>G" "" "{PMID:Genet 2000:11117428}" "TaqI" "" "" "Germline" "" "" "0" "" "" "g.38401369A>G" "" "VUS" "" "0000183088" "1" "50" "X" "38260623" "38260623" "subst" "0" "02152" "OTC_000069" "g.38260623A>G" "" "{PMID:Tuchman and Plante 1995:07627182}" "TspRI" "" "" "Germline" "" "" "0" "" "" "g.38401370A>G" "" "VUS" "" "0000183089" "1" "50" "X" "38260623" "38260623" "subst" "0" "02152" "OTC_000069" "g.38260623A>G" "" "{PMID:Kim 2006:17041896}" "TspRI" "" "OTC activity 0, Serum ammonia 429, Urine orotic acid 53.2, Serum citrulline 15.5," "Germline" "" "" "0" "" "" "g.38401370A>G" "" "VUS" "" "0000183090" "1" "50" "X" "38260624" "38260624" "subst" "0" "02152" "OTC_000296" "g.38260624T>R" "" "Takanashi 2002" "" "" "OTC activity below 10%" "Germline" "" "" "0" "" "" "g.38401371T>R" "" "VUS" "" "0000183091" "1" "50" "X" "38260625" "38260625" "subst" "0" "02152" "OTC_000026" "g.38260625G>A" "" "Feldmann 1992" "" "" "" "Germline" "" "" "0" "" "" "g.38401372G>A" "" "VUS" "" "0000183092" "1" "50" "X" "38260625" "38260625" "subst" "0" "02152" "OTC_000297" "g.38260625G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401372G>C" "" "VUS" "" "0000183093" "1" "50" "X" "38260626" "38260626" "subst" "0" "02152" "OTC_000299" "g.38260626G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401373G>A" "" "VUS" "" "0000183094" "1" "50" "X" "38260631" "38260631" "subst" "0" "02152" "OTC_000300" "g.38260631T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401378T>C" "" "VUS" "" "0000183095" "1" "50" "X" "38260632" "38260632" "subst" "0" "02152" "OTC_000117" "g.38260632C>G" "" "Matsuda and Tanase1997" "Hpy188I" "" "" "Germline" "" "" "0" "" "" "g.38401379C>G" "" "VUS" "" "0000183096" "1" "50" "X" "38260634" "38260634" "subst" "0" "02152" "OTC_000199" "g.38260634G>T" "" "{PMID:Genet 2000:11117428}" "Hpy188I" "" "" "Germline" "" "" "0" "" "" "g.38401381G>T" "" "VUS" "" "0000183097" "1" "50" "X" "38260642" "38260642" "subst" "0" "02152" "OTC_000070" "g.38260642C>A" "" "Garcia_Perez 1995" "MaeIII;RsaI" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38401389C>A" "" "VUS" "" "0000183098" "1" "50" "X" "38260642" "38260642" "subst" "0" "02152" "OTC_000151" "g.38260642C>G" "" "{PMID:Shimadzu 1998:09452024}" "RsaI;SfaNI" "" "" "Germline" "" "" "0" "" "" "g.38401389C>G" "" "VUS" "" "0000183099" "1" "50" "X" "38260644" "38260644" "subst" "0" "02152" "OTC_000301" "g.38260644A>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401391A>C" "" "VUS" "" "0000183100" "1" "50" "X" "38260644" "38260644" "subst" "0" "02152" "OTC_000082" "g.38260644A>G" "" "Vella 1996" "FokI;BstF5I" "" "enzyme cannot form a functional complex" "Germline" "" "" "0" "" "" "g.38401391A>G" "" "VUS" "" "0000183101" "1" "50" "X" "38260645" "38260645" "subst" "0" "02152" "OTC_000118" "g.38260645T>A" "" "{PMID:Tuchman 1997:09266388}" "FokI;BstF5I" "" "OTC activity -69%" "Germline" "" "" "0" "" "" "g.38401392T>A" "" "VUS" "" "0000183102" "1" "50" "X" "38260646" "38260646" "subst" "0" "02152" "OTC_000225" "g.38260646C>G" "" "{PMID:Tuchman 2002:11793468}" "FokI;NIallI" "" "" "Germline" "" "" "0" "" "" "g.38401393C>G" "" "VUS" "" "0000183103" "1" "50" "X" "38260646" "38260646" "subst" "0" "02152" "OTC_000225" "g.38260646C>G" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.38401393C>G" "" "VUS" "" "0000183104" "1" "50" "X" "38260647" "38260647" "subst" "0" "02152" "OTC_000200" "g.38260647C>T" "" "{PMID:Genet 2000:11117428}" "FokI;BstF5I" "" "" "Germline" "" "" "0" "" "" "g.38401394C>T" "" "VUS" "" "0000183106" "1" "50" "X" "38260657" "38260657" "subst" "0" "02152" "OTC_000050" "g.38260657C>G" "" "Matsuura 1994" "EcoRII;DpnI" "" "" "Germline" "" "" "0" "" "" "g.38401404C>G" "" "VUS" "" "0000183107" "1" "50" "X" "38260661" "38260661" "subst" "0" "02152" "OTC_000037" "g.38260661G>C" "" "Tsai 1993" "EcoRII;BspNI" "" "" "Germline" "" "" "0" "" "" "g.38401408G>C" "" "VUS" "" "0000183108" "1" "50" "X" "38260665" "38260665" "subst" "0" "02152" "OTC_000201" "g.38260665A>G" "" "{PMID:Genet 2000:11117428}" "MaeIII;BstEII" "" "" "Germline" "" "" "0" "" "" "g.38401412A>G" "" "VUS" "" "0000183109" "1" "50" "X" "38260665" "38260665" "subst" "0" "02152" "OTC_000119" "g.38260665A>T" "" "{PMID:Tuchman 1997:09266388}" "" "" "" "Germline" "" "" "0" "" "" "g.38401412A>T" "" "VUS" "" "0000183110" "1" "50" "X" "38260667" "38260667" "subst" "0" "02152" "OTC_000226" "g.38260667T>C" "" "{PMID:Tuchman 2002:11793468}" "BcII;MboI" "" "" "Germline" "" "" "0" "" "" "g.38401414T>C" "" "VUS" "" "0000183111" "1" "50" "X" "38260668" "38260668" "subst" "0" "02152" "OTC_000083" "g.38260668A>G" "" "Oppliger Leibundgut 1996b" "" "" "OTC activity 19%" "Germline" "" "" "0" "" "" "g.38401415A>G" "" "VUS" "" "0000183112" "1" "50" "X" "38260671" "38260674" "dup" "0" "02152" "OTC_000084" "g.38260671_38260674dup" "" "Gilbert_Dussardier 1996" "BsaXI" "" "" "Germline" "" "" "0" "" "" "g.38401418_38401421dup" "" "VUS" "" "0000183113" "1" "50" "X" "38260674" "38260674" "subst" "0" "02152" "OTC_000071" "g.38260674C>T" "" "Oppliger Leibundgut 1995" "NlaIII" "" "" "Germline" "" "" "0" "" "" "g.38401421C>T" "" "VUS" "" "0000183114" "1" "50" "X" "38260677" "38260677" "subst" "0" "02152" "OTC_000303" "g.38260677T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401424T>C" "" "VUS" "" "0000183115" "1" "50" "X" "38260673" "38260678" "del" "0" "02152" "OTC_000152" "g.38260673_38260678del" "" "{PMID:Shimadzu 1998:09452024}" "EcoRII" "" "" "Germline" "" "" "0" "" "" "g.38401420_38401425del" "" "VUS" "" "0000183116" "1" "50" "X" "38260680" "38260680" "subst" "0" "02152" "OTC_000304" "g.38260680A>C" "" "Hbler 2001" "" "" "" "Germline" "" "" "0" "" "" "g.38401427A>C" "" "VUS" "" "0000183117" "1" "50" "X" "38260681" "38260681" "subst" "0" "02152" "OTC_000120" "g.38260681G>C" "" "{PMID:Tuchman 1997:09266388}" "EcoRII;ScrFI" "" "OTC activity 7.1%, -43%" "Germline" "" "" "0" "" "" "g.38401428G>C" "" "VUS" "" "0000183118" "0" "50" "X" "38260681" "38260681" "subst" "0" "02152" "OTC_000120" "g.38260681G>C" "" "Hbler 2001" "" "" "" "Germline" "" "" "0" "" "" "g.38401428G>C" "" "VUS" "" "0000183119" "1" "50" "X" "38260682" "38260682" "subst" "0" "02152" "OTC_000085" "g.38260682G>C" "" "Oppliger Leibundgut 1996a" "EcoRII;AluI" "IVS5+1G>C" "" "Germline" "" "" "0" "" "" "g.38401429G>C" "" "VUS" "" "0000183120" "1" "50" "X" "38260683" "38260683" "subst" "0" "02152" "OTC_000305" "g.38260683T>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38401430T>A" "" "VUS" "" "0000183121" "1" "50" "X" "38260683" "38260683" "subst" "0" "02152" "OTC_000072" "g.38260683T>C" "" "Matsuura 1995" "CviJI" "IVS5+2T>C" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38401430T>C" "" "VUS" "" "0000183122" "21" "90" "X" "38260946" "38260946" "subst" "0" "00006" "OTC_000395" "g.38260946G>A" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "" "0" "" "" "g.38401693G>A" "" "pathogenic" "" "0000183123" "1" "50" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "2/36" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "VUS" "" "0000183124" "1" "50" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "16/103" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "VUS" "" "0000183125" "1" "50" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "13/57" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "VUS" "" "0000183126" "1" "50" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "7/57" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "VUS" "" "0000183127" "1" "10" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "13/103" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "benign" "" "0000183128" "1" "10" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "18/36" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "benign" "" "0000183129" "1" "10" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "1/36" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "benign" "" "0000183130" "1" "10" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "3/57" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "benign" "" "0000183131" "1" "10" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "4/103" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "rs2235125" "0" "" "" "g.38403555G>A" "" "benign" "" "0000183132" "1" "10" "X" "38262808" "38262808" "subst" "0" "00006" "OTC_000258" "g.38262808G>A" "6/36" "{PMID:Azevedo 2003:12618087}" "DdeI;MseI" "" "" "Germline" "" "" "0" "" "" "g.38403555G>A" "" "benign" "" "0000183133" "1" "50" "X" "38262869" "38262869" "subst" "0" "02152" "OTC_000202" "g.38262869A>G" "" "{PMID:Genet 2000:11117428}" "XcmI" "" "" "Germline" "" "" "0" "" "" "g.38403616A>G" "" "VUS" "" "0000183134" "1" "50" "X" "38262872" "38262872" "subst" "0" "02152" "OTC_000153" "g.38262872A>G" "" "{PMID:Tuchman 1998:09686344}" "BsmFI" "" "" "Germline" "" "" "0" "" "" "g.38403619A>G" "" "VUS" "" "0000183135" "1" "50" "X" "38262875" "38262875" "subst" "0" "02152" "OTC_000051" "g.38262875A>T" "" "{PMID:Tuchman 1994a:08019569}" "" "" "" "Germline" "" "" "0" "" "" "g.38403622A>T" "" "VUS" "" "0000183136" "1" "50" "X" "38262877" "38262877" "subst" "0" "02152" "OTC_000121" "g.38262877T>G" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "SfcI" "" "" "Germline" "" "" "0" "" "" "g.38403624T>G" "" "VUS" "" "0000183137" "1" "50" "X" "38262878" "38262878" "subst" "0" "02152" "OTC_000038" "g.38262878A>G" "" "Reish 1993" "HpyCH4III;TspRI" "" "" "Germline" "" "" "0" "" "" "g.38403625A>G" "" "VUS" "" "0000183138" "1" "50" "X" "38262892" "38262892" "subst" "0" "02152" "OTC_000086" "g.38262892G>C" "" "Gilbert_Dussardier 1996" "HpyCH4IV;TaiI" "" "OTC activity 2%" "Germline" "" "" "0" "" "" "g.38403639G>C" "" "VUS" "" "0000183139" "1" "50" "X" "38262893" "38262893" "subst" "0" "02152" "OTC_000175" "g.38262893G>T" "" "Climent 1999" "" "" "" "Germline" "" "" "0" "" "" "g.38403640G>T" "" "VUS" "" "0000183141" "1" "50" "X" "38262901" "38262901" "del" "0" "02152" "OTC_000266" "g.38262901del" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity ?, Serum ammonia 860, Urine orotic acid NA, Serum citrulline 5.7," "Germline" "" "" "0" "" "" "g.38403648del" "" "VUS" "" "0000183142" "1" "50" "X" "38262902" "38262902" "subst" "0" "02152" "OTC_000306" "g.38262902T>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403649T>G" "" "VUS" "" "0000183143" "1" "50" "X" "38262906" "38262906" "subst" "0" "02152" "OTC_000039" "g.38262906C>G" "" "Matsuura 1993" "PvuII;AluI" "" "" "Germline" "" "" "0" "" "" "g.38403653C>G" "" "VUS" "" "0000183144" "1" "50" "X" "38262907" "38262907" "subst" "0" "02152" "OTC_000307" "g.38262907T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403654T>C" "" "VUS" "" "0000183145" "1" "50" "X" "38262907" "38262907" "subst" "0" "02152" "OTC_000308" "g.38262907T>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403654T>G" "" "VUS" "" "0000183146" "1" "50" "X" "38262908" "38262908" "subst" "0" "02152" "OTC_000154" "g.38262908G>A" "" "{PMID:Shimadzu 1998:09452024}" "PvuII;ALWI" "" "" "Germline" "" "" "0" "" "" "g.38403655G>A" "" "VUS" "" "0000183147" "1" "50" "X" "38262909" "38262909" "subst" "0" "02152" "OTC_000228" "g.38262909G>T" "<0.01" "{PMID:Climent and Rubio 2002:12402347}" "BsiYI;MboI;DpnI;BstKTI" "" "" "Germline" "" "" "0" "" "" "g.38403656G>T" "" "VUS" "" "0000183148" "1" "50" "X" "38262910" "38262910" "subst" "0" "02152" "OTC_000229" "g.38262910A>T" "<0.01" "{PMID:Climent and Rubio 2002:12402347}" "MboI;DpnI;BstKTI;BinI" "" "" "Germline" "" "" "0" "" "" "g.38403657A>T" "" "VUS" "" "0000183149" "1" "50" "X" "38262913" "38262913" "subst" "0" "02152" "OTC_000052" "g.38262913G>A" "" "{PMID:Tuchman 1994b:07951259}" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38403660G>A" "" "VUS" "" "0000183150" "1" "50" "X" "38262913" "38262913" "subst" "0" "02152" "OTC_000262" "g.38262913G>C" "" "{PMID:Kim 2006:17041896}" "" "" "OTC activity ?, Serum ammonia 115, Urine orotic acid 11293.3, Serum citrulline 7.2," "Germline" "" "" "0" "" "" "g.38403660G>C" "" "VUS" "" "0000183151" "1" "50" "X" "38262915" "38262915" "subst" "0" "02152" "OTC_000155" "g.38262915G>A" "<0.01" "{PMID:Tuchman 1998:09686344}" "FokI;BstF5I" "" "" "Germline" "" "" "0" "" "" "g.38403662G>A" "" "VUS" "" "0000183152" "1" "50" "X" "38262916" "38262916" "del" "0" "02152" "OTC_000230" "g.38262916del" "" "{PMID:Climent and Rubio 2002:11793483}" "FokI" "" "" "Germline" "" "" "0" "" "" "g.38403663del" "" "VUS" "" "0000183153" "1" "50" "X" "38262916" "38262916" "subst" "0" "02152" "OTC_000309" "g.38262916G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403663G>A" "" "VUS" "" "0000183154" "1" "50" "X" "38262916" "38262916" "subst" "0" "02152" "OTC_000156" "g.38262916G>T" "" "{PMID:Tuchman 1998:09686344}" "FokI;BstF51" "" "" "Germline" "" "" "0" "" "" "g.38403663G>T" "" "VUS" "" "0000183155" "1" "50" "X" "38262917" "38262917" "subst" "0" "02152" "OTC_000040" "g.38262917A>T" "" "Matsuura 1993" "FokI;BstF5I" "" "OTC activity 7%" "Germline" "" "" "0" "" "" "g.38403664A>T" "" "VUS" "" "0000183156" "1" "50" "X" "38262919" "38262919" "subst" "0" "02152" "OTC_000176" "g.38262919G>A" "" "Climent 1999" "FokI;BstF5I" "" "" "Germline" "" "" "0" "" "" "g.38403666G>A" "" "VUS" "" "0000183157" "1" "50" "X" "38262920" "38262920" "subst" "0" "02152" "OTC_000157" "g.38262920G>A" "" "{PMID:Tuchman 1998:09686344}" "" "" "" "Germline" "" "" "0" "" "" "g.38403667G>A" "" "VUS" "" "0000183158" "1" "50" "X" "38262923" "38262923" "subst" "0" "02152" "OTC_000310" "g.38262923A>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403670A>T" "" "VUS" "" "0000183159" "1" "50" "X" "38262924" "38262924" "subst" "0" "02152" "OTC_000177" "g.38262924C>A" "" "Popowska 1999" "" "" "" "Germline" "" "" "0" "" "" "g.38403671C>A" "" "VUS" "" "0000183160" "1" "50" "X" "38262925" "38262925" "subst" "0" "02152" "OTC_000311" "g.38262925A>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403672A>G" "" "VUS" "" "0000183161" "1" "50" "X" "38262926" "38262926" "subst" "0" "02152" "OTC_000231" "g.38262926A>G" "" "{PMID:Tuchman 2002:11793468}" "HpyCH4III;BciVI" "" "" "Germline" "" "" "0" "" "" "g.38403673A>G" "" "VUS" "" "0000183162" "1" "50" "X" "38262928" "38262929" "del" "0" "02152" "OTC_000053" "g.38262928_38262929delTA" "" "{PMID:Tuchman 1994b:07951259}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38403675_38403676delTA" "" "VUS" "" "0000183163" "1" "50" "X" "38262932" "38262932" "subst" "0" "02152" "OTC_000158" "g.38262932T>C" "" "{PMID:Shimadzu 1998:09452024}" "FauI;BsgI" "" "" "Germline" "" "" "0" "" "" "g.38403679T>C" "" "VUS" "" "0000183164" "1" "50" "X" "38262934" "38262934" "subst" "0" "02152" "OTC_000122" "g.38262934C>T" "" "{PMID:Tuchman 1997:09266388}" "TatI;RsaI" "" "OTC activity -49%" "Germline" "" "" "0" "" "" "g.38403681C>T" "" "VUS" "" "0000183165" "1" "50" "X" "38262935" "38262935" "subst" "0" "02152" "OTC_000159" "g.38262935A>C" "" "Staudt 1998" "BsgI;MnlI" "" "" "Germline" "" "" "0" "" "" "g.38403682A>C" "" "VUS" "" "0000183166" "1" "50" "X" "38262938" "38262938" "subst" "0" "02152" "OTC_000054" "g.38262938C>G" "" "{PMID:Tuchman 1994a:08019569}" "TspRI;BtsI" "" "" "Germline" "" "" "0" "" "" "g.38403685C>G" "" "VUS" "" "0000183167" "1" "50" "X" "38262943" "38262943" "subst" "0" "02152" "OTC_000203" "g.38262943A>G" "" "{PMID:Genet 2000:11117428}" "NlalII;BspHI" "" "" "Germline" "" "" "0" "" "" "g.38403690A>G" "" "VUS" "" "0000183168" "1" "50" "X" "38262944" "38262944" "subst" "0" "02152" "OTC_000267" "g.38262944T>C" "" "{PMID:Yoo 1998:09610619}; {PMID:Kim 2006:17041896}" "NlaIII-" "" "not in 100 control chromosomes; OTC activity ?, Serum ammonia 980, Urine orotic acid 4382.8, Serum citrulline 0," "De novo" "" "" "0" "" "" "g.38403691T>C" "" "VUS" "" "0000183169" "1" "50" "X" "38262947" "38262947" "subst" "0" "02152" "OTC_000123" "g.38262947T>G" "" "{PMID:Tuchman 1997:09266388}" "MnlI;MslI" "" "" "Germline" "" "" "0" "" "" "g.38403694T>G" "" "VUS" "" "0000183170" "1" "50" "X" "38262947" "38262947" "subst" "0" "02152" "OTC_000123" "g.38262947T>G" "" "{PMID:Kim 2006:17041896}" "MnlI;MslI" "" "OTC activity ?, Serum ammonia 195, Urine orotic acid NA, Serum citrulline 18.0," "Germline" "" "" "0" "" "" "g.38403694T>G" "" "VUS" "" "0000183171" "1" "50" "X" "38262948" "38262948" "subst" "0" "02152" "OTC_000232" "g.38262948G>C" "" "{PMID:Climent and Rubio 2002:11793483}" "BclI;MboI" "" "" "Germline" "" "" "0" "" "" "g.38403695G>C" "" "VUS" "" "0000183172" "1" "50" "X" "38262950" "38262950" "subst" "0" "02152" "OTC_000313" "g.38262950G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403697G>A" "" "VUS" "" "0000183173" "1" "50" "X" "38262951" "38262951" "subst" "0" "02152" "OTC_000160" "g.38262951C>A" "" "{PMID:Shimadzu 1998:09452024}" "CfoI;HhaI" "" "" "Germline" "" "" "0" "" "" "g.38403698C>A" "" "VUS" "" "0000183174" "1" "50" "X" "38262952" "38262952" "subst" "0" "02152" "OTC_000087" "g.38262952G>A" "" "van Diggelen 1996" "CfoI;ItaI" "" "OTC activity 4%" "Germline" "" "" "0" "" "" "g.38403699G>A" "" "VUS" "" "0000183175" "1" "50" "X" "38262956" "38262956" "subst" "0" "02152" "OTC_000073" "g.38262956C>T" "" "Garcia_Perez 1995" "TseI;BtsI" "" "OTC activity 1%, -1.40%" "Germline" "" "" "0" "" "" "g.38403703C>T" "" "VUS" "" "0000183176" "1" "50" "X" "38262958" "38262958" "subst" "0" "02152" "OTC_000315" "g.38262958A>C" "" "Valik 2004" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38403705A>C" "" "VUS" "" "0000183177" "1" "50" "X" "38262968" "38262968" "subst" "0" "02152" "OTC_000124" "g.38262968T>A" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "BsmI;HpyCH4V" "" "" "Germline" "" "" "0" "" "" "g.38403715T>A" "" "VUS" "" "0000183178" "1" "50" "X" "38262970" "38262970" "subst" "0" "02152" "OTC_000088" "g.38262970C>T" "" "{PMID:Yoo 1996:08830175}; {PMID:Yoo 1998:09610619}; {PMID:Kim 2006:17041896}" "BsmI;RsaI+" "" "" "Germline" "" "" "0" "" "" "g.38403717C>T" "" "VUS" "" "0000183179" "1" "50" "X" "38262973" "38262973" "subst" "0" "02152" "OTC_000316" "g.38262973C>T" "" "Ueta 2001" "" "" "OTC activity 17%" "Germline" "" "" "0" "" "" "g.38403720C>T" "" "VUS" "" "0000183180" "1" "50" "X" "38262975" "38262975" "dup" "0" "02152" "OTC_000055" "g.38262975dup" "" "{PMID:Tuchman 1994a:08019569}" "Eco57I" "" "" "Germline" "" "" "0" "" "" "g.38403722dup" "" "VUS" "" "0000183181" "1" "50" "X" "38262976" "38262976" "subst" "0" "02152" "OTC_000008" "g.38262976C>G" "" "Grompe 1989" "MnlI;SmlI" "" "" "Germline" "" "" "0" "" "" "g.38403723C>G" "" "VUS" "" "0000183182" "1" "50" "X" "38262980" "38262980" "subst" "0" "02152" "OTC_000317" "g.38262980C>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403727C>A" "" "VUS" "" "0000183183" "1" "50" "X" "38262988" "38262988" "subst" "0" "02152" "OTC_000089" "g.38262988C>G" "" "Oppliger Leibundgut 1996b" "BslI;MwoI" "" "OTC activity 35%" "Germline" "" "" "0" "" "" "g.38403735C>G" "" "VUS" "" "0000183184" "1" "50" "X" "38262989" "38262989" "subst" "0" "02152" "OTC_000318" "g.38262989C>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403736C>T" "" "VUS" "" "0000183185" "1" "50" "X" "38262993" "38262993" "subst" "0" "02152" "OTC_000161" "g.38262993G>A" "" "{PMID:Shimadzu 1998:09452024}" "" "" "OTC activity 8%" "Germline" "" "" "0" "" "" "g.38403740G>A" "" "VUS" "" "0000183186" "1" "50" "X" "38262993" "38262993" "subst" "0" "02152" "OTC_000319" "g.38262993G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38403740G>C" "" "VUS" "" "0000183187" "1" "50" "X" "38262993" "38262993" "subst" "0" "02152" "OTC_000268" "g.38262993G>T" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity 0, Serum ammonia 215, Urine orotic acid 75, Serum citrulline 23.0," "Germline" "" "" "0" "" "" "g.38403740G>T" "" "VUS" "" "0000183188" "1" "50" "X" "38262994" "38262994" "subst" "0" "02152" "OTC_000125" "g.38262994G>A" "" "{PMID:Tuchman 1997:09266388}" "" "c.IVS6+1G>A" "" "Germline" "" "" "0" "" "" "g.38403741G>A" "" "VUS" "" "0000183189" "1" "50" "X" "38262994" "38262994" "subst" "0" "02152" "OTC_000090" "g.38262994G>T" "" "Oppliger Leibundgut 1996a" "" "c.IVS6+1G>T" "" "Germline" "" "" "0" "" "" "g.38403741G>T" "" "VUS" "" "0000183190" "1" "50" "X" "38262995" "38262995" "dup" "0" "02152" "OTC_000074" "g.38262995dup" "" "{PMID:Tuchman and Plante 1995:07627182}" "BslI" "c.IVS6+3insT" "" "Germline" "" "" "0" "" "" "g.38403742dup" "" "VUS" "" "0000183191" "1" "50" "X" "38262995" "38262995" "subst" "0" "02152" "OTC_000126" "g.38262995T>C" "" "{PMID:Tuchman 1997:09266388}" "" "c.IVS6+2T>C" "" "Germline" "" "" "0" "" "" "g.38403742T>C" "" "VUS" "" "0000183192" "1" "50" "X" "38267996" "38267996" "del" "0" "02152" "OTC_000127" "g.38267996del" "" "{PMID:Tuchman 1997:09266388}" "" "c.IVS6-1delG" "" "Germline" "" "" "0" "" "" "g.38408743del" "" "VUS" "" "0000183193" "1" "50" "X" "38267994" "38267994" "subst" "0" "02152" "OTC_000233" "g.38267994G>A" "" "{PMID:Tuchman 2002:11793468}" "EcoNI;MseI" "c.IVS6-1G>A" "" "Germline" "" "" "0" "" "" "g.38408741G>A" "" "VUS" "" "0000183194" "1" "50" "X" "38268004" "38268004" "subst" "0" "02152" "OTC_000056" "g.38268004C>A" "" "{PMID:Tuchman 1994b:07951259}" "MspI;CviJI" "" "OTC activity -42%" "Germline" "" "" "0" "" "" "g.38408751C>A" "" "VUS" "" "0000183195" "1" "50" "X" "38268005" "38268005" "subst" "0" "02152" "OTC_000128" "g.38268005C>G" "" "Garcia_Perez 1997" "MspI;FauI" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38408752C>G" "" "VUS" "" "0000183196" "1" "50" "X" "38268005" "38268005" "subst" "0" "02152" "OTC_000016" "g.38268005C>T" "" "Hentzen 1991" "AluI;MspI" "" "OTC activity 0%, -0.45%" "Germline" "" "" "0" "" "" "g.38408752C>T" "" "VUS" "" "0000183197" "1" "50" "X" "38268029" "38268029" "subst" "0" "02152" "OTC_000320" "g.38268029C>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408776C>T" "" "VUS" "" "0000183198" "1" "50" "X" "38268031" "38268031" "subst" "0" "02152" "OTC_000321" "g.38268031G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408778G>T" "" "VUS" "" "0000183199" "1" "50" "X" "38268041" "38268041" "subst" "0" "02152" "OTC_000263" "g.38268041C>A" "" "{PMID:Kim 2006:17041896}" "" "" "OTC activity ?, Serum ammonia 135, Urine orotic acid 36, Serum citrulline 17.4," "Germline" "" "" "0" "" "" "g.38408788C>A" "" "VUS" "" "0000183200" "1" "50" "X" "38268047" "38268047" "subst" "0" "02152" "OTC_000323" "g.38268047A>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408794A>G" "" "VUS" "" "0000183201" "1" "50" "X" "38268047" "38268047" "subst" "0" "02152" "OTC_000322" "g.38268047A>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408794A>T" "" "VUS" "" "0000183202" "1" "50" "X" "38268048" "38268048" "subst" "0" "02152" "OTC_000129" "g.38268048G>A" "" "{PMID:Tuchman 1997:09266388}" "MnlI" "" "" "Germline" "" "" "0" "" "" "g.38408795G>A" "" "VUS" "" "0000183203" "1" "50" "X" "38268048" "38268048" "subst" "0" "02152" "OTC_000324" "g.38268048G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408795G>C" "" "VUS" "" "0000183204" "1" "50" "X" "38268049" "38268049" "subst" "0" "02152" "OTC_000204" "g.38268049G>A" "" "{PMID:Genet 2000:11117428}" "MnlI" "c.IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.38408796G>A" "" "VUS" "" "0000183205" "1" "50" "X" "38268049" "38268049" "subst" "0" "02152" "OTC_000234" "g.38268049G>T" "" "{PMID:Tuchman 2002:11793468}" "MnlI" "c.IVS7+1G>T" "" "Germline" "" "" "0" "" "" "g.38408796G>T" "" "VUS" "" "0000183206" "1" "50" "X" "38268050" "38268050" "subst" "0" "02152" "OTC_000017" "g.38268050T>C" "" "{PMID:Carstens 1991:02035531}" "BglI;SphI" "c.IVS7+2T>C" "" "Germline" "" "" "0" "" "" "g.38408797T>C" "" "VUS" "" "0000183207" "1" "50" "X" "38268051" "38268051" "subst" "0" "02152" "OTC_000018" "g.38268051A>G" "" "{PMID:Carstens 1991:02035531}" "BsiHKAI;Bsp1286I" "c.IVS7+3A>G" "" "Germline" "" "" "0" "" "" "g.38408798A>G" "" "VUS" "" "0000183208" "1" "50" "X" "38268056" "38268071" "del" "0" "02152" "OTC_000162" "g.38268056_38268071del" "" "Calvas 1998" "NlaIII;NspI" "c.IVS7+7_22del16" "OTC activity 0?1.5%" "Germline" "" "" "0" "" "" "g.38408803_38408818del" "" "VUS" "" "0000183209" "1" "50" "X" "38268127" "38268127" "subst" "0" "02152" "OTC_000178" "g.38268127A>G" "" "Popowska 1999" "BfaI" "c.IVS7-2A>G" "" "Germline" "" "" "0" "" "" "g.38408874A>G" "" "VUS" "" "0000183210" "1" "50" "X" "38268136" "38268136" "subst" "0" "02152" "OTC_000130" "g.38268136C>T" "" "{PMID:Tuchman 1997:09266388}" "BanI;KpnI" "" "" "Germline" "" "" "0" "" "" "g.38408883C>T" "" "VUS" "" "0000183211" "1" "50" "X" "38268127" "38268142" "del" "0" "02152" "OTC_000325" "g.38268127_38268142del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408874_38408889del" "" "VUS" "" "0000183212" "1" "50" "X" "38268142" "38268142" "subst" "0" "02152" "OTC_000164" "g.38268142T>A" "" "Calvas 1998" "AluI;CviJI" "" "OTC activity 8%" "Germline" "" "" "0" "" "" "g.38408889T>A" "" "VUS" "" "0000183213" "1" "50" "X" "38268142" "38268150" "del" "0" "02152" "OTC_000163" "g.38268142_38268150delTGTTGCT" "" "Calvas 1998" "AluI" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38408889_38408897delTGTTGCT" "" "VUS" "" "0000183214" "1" "50" "X" "38268151" "38268151" "subst" "0" "02152" "OTC_000075" "g.38268151C>A" "" "{PMID:Tuchman and Plante 1995:07627182}" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38408898C>A" "" "VUS" "" "0000183215" "1" "50" "X" "38268157" "38268157" "subst" "0" "02152" "OTC_000269" "g.38268157A>G" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity ?, Serum ammonia 115, Urine orotic acid 23, Serum citrulline 13.6," "Germline" "" "" "0" "" "" "g.38408904A>G" "" "VUS" "" "0000183216" "1" "50" "X" "38268168" "38268168" "subst" "0" "02152" "OTC_000326" "g.38268168G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408915G>A" "" "VUS" "" "0000183217" "1" "50" "X" "38268168" "38268168" "subst" "0" "02152" "OTC_000327" "g.38268168G>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408915G>C" "" "VUS" "" "0000183218" "1" "50" "X" "38268170" "38268170" "del" "0" "02152" "OTC_000328" "g.38268170del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408917del" "" "VUS" "" "0000183219" "1" "50" "X" "38268175" "38268175" "subst" "0" "02152" "OTC_000165" "g.38268175A>C" "" "{PMID:Tuchman 1998:09686344}" "NlaIII;BpmI" "" "" "Germline" "" "" "0" "" "" "g.38408922A>C" "" "VUS" "" "0000183220" "1" "50" "X" "38268190" "38268190" "subst" "0" "02152" "OTC_000329" "g.38268190T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408937T>C" "" "VUS" "" "0000183221" "1" "50" "X" "38268196" "38268196" "subst" "0" "02152" "OTC_000205" "g.38268196C>A" "" "Giorgi 2000" "MseI;PacI" "" "OTC activity 26%" "Germline" "" "" "0" "" "" "g.38408943C>A" "" "VUS" "" "0000183222" "1" "50" "X" "38268196" "38268196" "subst" "0" "02152" "OTC_000330" "g.38268196C>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408943C>T" "" "VUS" "" "0000183223" "1" "50" "X" "38268198" "38268198" "subst" "0" "02152" "OTC_000131" "g.38268198G>A" "" "{PMID:Tuchman 1997:09266388}" "" "" "" "Germline" "" "" "0" "" "" "g.38408945G>A" "" "VUS" "" "0000183224" "1" "50" "X" "38268199" "38268199" "subst" "0" "02152" "OTC_000166" "g.38268199A>G" "" "{PMID:Tuchman 1998:09686344}" "" "" "" "Germline" "" "" "0" "" "" "g.38408946A>G" "" "VUS" "" "0000183225" "1" "50" "X" "38268201" "38268201" "subst" "0" "02152" "OTC_000041" "g.38268201A>G" "" "Matsuura 1993" "HgaI" "" "OTC activity 22%" "Germline" "" "" "0" "" "" "g.38408948A>G" "" "VUS" "" "0000183226" "1" "50" "X" "38268202" "38268202" "subst" "0" "02152" "OTC_000331" "g.38268202C>A" "" "Hwu 2003" "" "" "" "Germline" "" "" "0" "" "" "g.38408949C>A" "" "VUS" "" "0000183227" "1" "50" "X" "38268202" "38268202" "subst" "0" "02152" "OTC_000167" "g.38268202C>T" "" "{PMID:Shimadzu 1998:09452024}" "" "" "" "Germline" "" "" "0" "" "" "g.38408949C>T" "" "VUS" "" "0000183228" "1" "50" "X" "38268204" "38268204" "subst" "0" "02152" "OTC_000332" "g.38268204T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408951T>C" "" "VUS" "" "0000183229" "1" "50" "X" "38268205" "38268205" "subst" "0" "02152" "OTC_000206" "g.38268205G>T" "" "Giorgi 2000" "" "" "OTC activity 56%" "Germline" "" "" "0" "" "" "g.38408952G>T" "" "VUS" "" "0000183230" "1" "50" "X" "38268206" "38268206" "subst" "0" "02152" "OTC_000333" "g.38268206G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408953G>A" "" "VUS" "" "0000183231" "1" "50" "X" "38268210" "38268210" "subst" "0" "02152" "OTC_000168" "g.38268210A>C" "" "{PMID:Shimadzu 1998:09452024}" "BciVI" "" "" "Germline" "" "" "0" "" "" "g.38408957A>C" "" "VUS" "" "0000183232" "1" "50" "X" "38268214" "38268214" "subst" "0" "02152" "OTC_000042" "g.38268214T>C" "" "Matsuura 1993" "NlaIII" "" "OTC activity 6.70%" "Germline" "" "" "0" "" "" "g.38408961T>C" "" "VUS" "" "0000183233" "1" "50" "X" "38268207" "38268216" "del" "0" "02152" "OTC_000271" "g.38268207_38268216del" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity 0, Serum ammonia 639, Urine orotic acid 2546, Serum citrulline 9.3," "Germline" "" "" "0" "" "" "g.38408954_38408963del" "" "VUS" "" "0000183234" "1" "50" "X" "38268217" "38268217" "subst" "0" "02152" "OTC_000076" "g.38268217G>A" "" "Zimmer 1995" "BsmFI" "" "OTC activity 2%" "Germline" "" "" "0" "" "" "g.38408964G>A" "" "VUS" "" "0000183235" "1" "50" "X" "38268219" "38268219" "subst" "0" "02152" "OTC_000207" "g.38268219C>T" "" "{PMID:McCullough 2000:10946359}" "BsmFI" "" "" "Germline" "" "" "0" "" "" "g.38408966C>T" "" "VUS" "" "0000183236" "1" "50" "X" "38268220" "38268220" "subst" "0" "02152" "OTC_000335" "g.38268220A>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408967A>C" "" "VUS" "" "0000183237" "1" "50" "X" "38268220" "38268220" "subst" "0.029447" "02152" "OTC_000028" "g.38268220A>G" "0.13" "{PMID:Tuchman 1992:1480464}" "" "" "" "Germline" "" "rs1800328" "0" "" "" "g.38408967A>G" "" "VUS" "" "0000183238" "1" "10" "X" "38268220" "38268220" "subst" "0.029447" "00006" "OTC_000028" "g.38268220A>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "100 individuals tested" "Germline" "" "rs1800328" "0" "" "" "g.38408967A>G" "" "benign" "" "0000183239" "10" "10" "X" "38268220" "38268220" "subst" "0.029447" "00006" "OTC_000028" "g.38268220A>G" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "rs1800328" "0" "" "" "g.38408967A>G" "" "benign" "" "0000183240" "1" "10" "X" "38268220" "38268220" "subst" "0.029447" "00006" "OTC_000028" "g.38268220A>G" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "rs1800328" "0" "" "" "g.38408967A>G" "" "benign" "" "0000183241" "20" "10" "X" "38268220" "38268220" "subst" "0.029447" "00006" "OTC_000028" "g.38268220A>G" "7/208" "{PMID:Tarpey 2009:19377476}" "?" "" "recurrent variant" "Germline" "" "rs1800328" "0" "" "" "g.38408967A>G" "" "benign" "" "0000183242" "1" "50" "X" "38268221" "38268222" "delins" "0" "02152" "OTC_000179" "g.38268221_38268222delinsC" "" "Khoo 1999" "" "" "" "Germline" "" "" "0" "" "" "g.38408968_38408969delinsC" "" "VUS" "" "0000183243" "1" "50" "X" "38268229" "38268229" "del" "0" "02152" "OTC_000336" "g.38268229del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38408976del" "" "VUS" "" "0000183244" "1" "50" "X" "38268228" "38268230" "del" "0" "02152" "OTC_000091" "g.38268228_38268230del" "" "Segues 1996" "MnlI;BseRI" "" "OTC activity 5%" "Germline" "" "" "0" "" "" "g.38408975_38408977del" "" "VUS" "" "0000183245" "1" "50" "X" "38268240" "38268240" "subst" "0" "02152" "OTC_000010" "g.38268240C>T" "" "Finkelstein 1990a" "ItaI;Fnu4HI" "" "OTC activity 5%, -59%" "Germline" "" "" "0" "" "" "g.38408987C>T" "" "VUS" "" "0000183246" "1" "50" "X" "38268240" "38268240" "subst" "0" "02152" "OTC_000010" "g.38268240C>T" "" "{PMID:Kim 2006:17041896}" "" "" "OTC activity ?, Serum ammonia 400, Urine orotic acid NA, Serum citrulline 13.0," "Germline" "" "" "0" "" "" "g.38408987C>T" "" "VUS" "" "0000183247" "1" "50" "X" "38268241" "38268241" "subst" "0" "02152" "OTC_000057" "g.38268241G>A" "" "{PMID:Tuchman 1994b:07951259}" "NlaIV;AluI" "" "OTC activity 7%" "Germline" "" "" "0" "" "" "g.38408988G>A" "" "VUS" "" "0000183248" "1" "50" "X" "38268241" "38268241" "subst" "0" "02152" "OTC_000235" "g.38268241G>T" "" "{PMID:Tuchman 2002:11793468}" "AciI;TseI" "" "" "Germline" "" "" "0" "" "" "g.38408988G>T" "" "VUS" "" "0000183249" "1" "50" "X" "38268246" "38268246" "subst" "0" "02152" "OTC_000236" "g.38268246C>T" "" "{PMID:Tuchman 2002:11793468}" "ApyI;MvaI" "" "" "Germline" "" "" "0" "" "" "g.38408993C>T" "" "VUS" "" "0000183250" "1" "50" "X" "38268248" "38268248" "subst" "0" "02152" "OTC_000237" "g.38268248G>A" "<0.01" "{PMID:Climent and Rubio 2002:12402347}" "Eco57MIGsuI;BssKI;EcoRI" "" "" "Germline" "" "" "0" "" "" "g.38408995G>A" "" "VUS" "" "0000183251" "1" "50" "X" "38268253" "38268253" "subst" "0" "02152" "OTC_000272" "g.38268253T>C" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity ?, Serum ammonia 463, Urine orotic acid 2547.2, Serum citrulline 7.3," "Germline" "" "" "0" "" "" "g.38409000T>C" "" "VUS" "" "0000183252" "1" "50" "X" "38268264" "38268264" "del" "0" "02152" "OTC_000273" "g.38268264del" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity ?, Serum ammonia 856, Urine orotic acid 3677.4, Serum citrulline 18.9," "Germline" "" "" "0" "" "" "g.38409011del" "" "VUS" "" "0000183253" "1" "50" "X" "38268266" "38268266" "subst" "0" "02152" "OTC_000238" "g.38268266G>A" "<0.01" "{PMID:Climent and Rubio 2002:12402347}" "SexAI;BssKI;EcoRII;BSe" "" "" "Germline" "" "" "0" "" "" "g.38409013G>A" "" "VUS" "" "0000183254" "20" "30" "X" "38268274" "38268274" "subst" "1.68159E-5" "00006" "OTC_000398" "g.38268274T>G" "1/208" "{PMID:Tarpey 2009:19377476}" "?" "" "non-recurrent variant" "Germline" "" "" "0" "" "" "g.38409021T>G" "" "likely benign" "" "0000183255" "1" "50" "X" "38260528" "38268278" "del" "0" "02152" "OTC_000001" "g.38260528_38268278del" "" "{PMID:Maddalena 1988:02843770}" "" "" "deletion exons 5-8\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Somatic" "" "" "0" "" "" "g.38401275_38409025del" "" "VUS" "" "0000183256" "1" "50" "X" "38267995" "38268278" "del" "0" "02152" "OTC_000027" "g.38267995_38268278del" "" "{PMID:Suess 1992:1627356}" "" "" "deletion exons 7-8\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38408742_38409025del" "" "VUS" "" "0000183257" "1" "50" "X" "38268278" "38268278" "subst" "0" "02152" "OTC_000240" "g.38268278G>T" "" "{PMID:Tuchman 2002:11793468}" "BsrGI;TatI" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38409025G>T" "" "VUS" "" "0000183258" "1" "50" "X" "38268279" "38268279" "subst" "0" "02152" "OTC_000169" "g.38268279G>A" "" "{PMID:Tuchman 1998:09686344}" "MbolI;RsaI" "c.IVS8+1G>A" "" "Germline" "" "" "0" "" "" "g.38409026G>A" "" "VUS" "" "0000183259" "1" "50" "X" "38268279" "38268279" "subst" "0" "02152" "OTC_000092" "g.38268279G>T" "" "Oppliger Leibundgut 1996a" "MaeIII;RsaI" "c.IVS8+1G>T" "" "Germline" "" "" "0" "" "" "g.38409026G>T" "" "VUS" "" "0000183260" "1" "50" "X" "38268313" "38268313" "subst" "0" "02152" "OTC_000239" "g.38268313G>T" "0.38" "{PMID:Azevedo 2002:12175783}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38409060G>T" "" "VUS" "" "0000183261" "10" "10" "X" "38268313" "38268313" "subst" "0" "00006" "OTC_000239" "g.38268313G>T" "" "{PMID:Engel 2008:18440262}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38409060G>T" "" "benign" "" "0000183262" "21" "90" "X" "38269404" "38269404" "subst" "0" "00006" "OTC_000396" "g.38269404A>G" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "" "0" "" "" "g.38410151A>G" "" "pathogenic" "" "0000183263" "1" "50" "X" "38271123" "38271123" "del" "0" "02152" "OTC_000337" "g.38271123del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411870del" "" "VUS" "" "0000183264" "1" "10" "X" "38271125" "38271125" "subst" "0" "00006" "OTC_000391" "g.38271125T>C" "" "{PMID:Mitchell 2009:18666241}" "" "" "47 individuals tested" "Germline" "" "" "0" "" "" "g.38411872T>C" "" "benign" "" "0000183265" "1" "10" "X" "38271125" "38271125" "subst" "0" "00006" "OTC_000391" "g.38271125T>C" "" "{PMID:Mitchell 2009:18666241}" "" "" "" "Germline" "" "" "0" "" "" "g.38411872T>C" "" "benign" "" "0000183266" "1" "50" "X" "38271129" "38271129" "del" "0" "02152" "OTC_000043" "g.38271129del" "" "Reish 1993" "CfoI;HinPI" "" "" "Germline" "" "" "0" "" "" "g.38411876del" "" "VUS" "" "0000183267" "1" "50" "X" "38271137" "38271140" "del" "0" "02152" "OTC_000338" "g.38271137_38271140del" "" "Yamanouchi 2002" "" "" "OTC activity below 10%" "Germline" "" "" "0" "" "" "g.38411884_38411887del" "" "VUS" "" "0000183268" "1" "50" "X" "38271139" "38271140" "del" "0" "02152" "OTC_000093" "g.38271139_38271140del" "" "Schimanski 1996" "BslI;BsrI" "" "" "Germline" "" "" "0" "" "" "g.38411886_38411887del" "" "VUS" "" "0000183269" "1" "50" "X" "38271140" "38271140" "subst" "0" "02152" "OTC_000339" "g.38271140G>C" "" "Ensenauer 2005" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38411887G>C" "" "VUS" "" "0000183270" "1" "50" "X" "38271149" "38271149" "subst" "0" "02152" "OTC_000275" "g.38271149T>C" "" "" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.38411896T>C" "" "VUS" "" "0000183271" "1" "50" "X" "38271150" "38271150" "subst" "0" "02152" "OTC_000243" "g.38271150A>T" "" "{PMID:Climent and Rubio 2002:11793483}" "" "" "OTC activity 3%" "Germline" "" "" "0" "" "" "g.38411897A>T" "" "VUS" "" "0000183272" "1" "50" "X" "38271151" "38271151" "subst" "0" "02152" "OTC_000094" "g.38271151C>T" "" "Oppliger Leibundgut 1996b" "BtsI;TspRI" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38411898C>T" "" "VUS" "" "0000183273" "1" "50" "X" "38271152" "38271152" "subst" "0" "02152" "OTC_000208" "g.38271152A>G" "" "{PMID:Genet 2000:11117428}" "BBvI;TseI" "" "" "Germline" "" "" "0" "" "" "g.38411899A>G" "" "VUS" "" "0000183274" "1" "50" "X" "38271152" "38271152" "subst" "0" "02152" "OTC_000095" "g.38271152A>T" "" "Gilbert_Dussardier 1996" "BtsI;TspRI" "" "" "Germline" "" "" "0" "" "" "g.38411899A>T" "" "VUS" "" "0000183275" "1" "50" "X" "38271153" "38271153" "subst" "0" "02152" "OTC_000133" "g.38271153C>G" "" "{PMID:Tuchman 1997:09266388}" "BtsI;HpyCH4III" "" "" "Germline" "" "" "0" "" "" "g.38411900C>G" "" "VUS" "" "0000183276" "1" "50" "X" "38271153" "38271153" "del" "0" "02152" "OTC_000340" "g.38271153del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411900del" "" "VUS" "" "0000183277" "1" "50" "X" "38271154" "38271154" "subst" "0" "02152" "OTC_000170" "g.38271154T>C" "" "Calvas 1998" "AciI;BtsI" "" "Ornithine bindig site" "Germline" "" "" "0" "" "" "g.38411901T>C" "" "VUS" "" "0000183278" "1" "50" "X" "38271154" "38271154" "subst" "0" "02152" "OTC_000244" "g.38271154T>G" "" "{PMID:Tuchman 2002:11793468}" "CviJI;BtsI" "" "Ornithine bindig site" "Germline" "" "" "0" "" "" "g.38411901T>G" "" "VUS" "" "0000183279" "1" "50" "X" "38271155" "38271155" "subst" "0" "02152" "OTC_000134" "g.38271155G>A" "" "{PMID:Tuchman 1997:09266388}" "BtsI;TspRI" "" "Ornithine bindig site" "Germline" "" "" "0" "" "" "g.38411902G>A" "" "VUS" "" "0000183280" "1" "50" "X" "38271159" "38271159" "subst" "0" "02152" "OTC_000030" "g.38271159G>T" "" "{PMID:Tuchman 1992:1480464}" "Cac8I;MwoI" "" "OTC activity 6%, -74%" "Germline" "" "" "0" "" "" "g.38411906G>T" "" "VUS" "" "0000183281" "1" "50" "X" "38271161" "38271161" "subst" "0" "02152" "OTC_000245" "g.38271161C>A" "" "{PMID:Climent and Rubio 2002:11793483}" "HpyCH4V" "" "" "Germline" "" "" "0" "" "" "g.38411908C>A" "" "VUS" "" "0000183282" "1" "50" "X" "38271161" "38271161" "subst" "0" "02152" "OTC_000341" "g.38271161C>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411908C>G" "" "VUS" "" "0000183283" "1" "50" "X" "38271175" "38271175" "subst" "0" "02152" "OTC_000044" "g.38271175G>T" "" "Reish 1993" "MboII" "" "" "Germline" "" "" "0" "" "" "g.38411922G>T" "" "VUS" "" "0000183284" "1" "50" "X" "38271176" "38271176" "subst" "0" "02152" "OTC_000342" "g.38271176A>G" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411923A>G" "" "VUS" "" "0000183285" "1" "50" "X" "38271176" "38271178" "del" "0" "02152" "OTC_000058" "g.38271176_38271178del" "" "{PMID:Tuchman 1994b:07951259}" "MboII" "" "" "Germline" "" "" "0" "" "" "g.38411923_38411925del" "" "VUS" "" "0000183286" "1" "50" "X" "38271178" "38271178" "subst" "0" "02152" "OTC_000343" "g.38271178G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411925G>A" "" "VUS" "" "0000183287" "1" "50" "X" "38271188" "38271190" "del" "0" "02152" "OTC_000344" "g.38271188_38271190del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411935_38411937del" "" "VUS" "" "0000183288" "1" "50" "X" "38271190" "38271190" "subst" "0" "02152" "OTC_000345" "g.38271190G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411937G>T" "" "VUS" "" "0000183289" "1" "50" "X" "38271191" "38271191" "subst" "0" "02152" "OTC_000246" "g.38271191T>A" "" "{PMID:Tuchman 2002:11793468}" "BbsI;MboII" "" "" "Germline" "" "" "0" "" "" "g.38411938T>A" "" "VUS" "" "0000183290" "1" "50" "X" "38271191" "38271191" "subst" "0" "02152" "OTC_000247" "g.38271191T>G" "" "{PMID:Tuchman 2002:11793468}" "CviJI" "" "" "Germline" "" "" "0" "" "" "g.38411938T>G" "" "VUS" "" "0000183291" "1" "50" "X" "38271194" "38271194" "subst" "0" "02152" "OTC_000248" "g.38271194T>C" "" "{PMID:Tuchman 2002:11793468}" "BsmAI" "" "" "Germline" "" "" "0" "" "" "g.38411941T>C" "" "VUS" "" "0000183292" "1" "50" "X" "38271200" "38271200" "subst" "0" "02152" "OTC_000209" "g.38271200C>T" "" "{PMID:Genet 2000:11117428}" "BseRI" "" "" "Germline" "" "" "0" "" "" "g.38411947C>T" "" "VUS" "" "0000183293" "1" "50" "X" "38271205" "38271205" "subst" "0" "02152" "OTC_000096" "g.38271205C>T" "" "{PMID:Yoo 1996:08830175}; {PMID:Yoo 1998:09610619}; {PMID:Kim 2006:17041896}" "TaqI;BclI" "" "" "Germline" "" "" "0" "" "" "g.38411952C>T" "" "VUS" "" "0000183294" "1" "50" "X" "38271205" "38271205" "subst" "0" "02152" "OTC_000096" "g.38271205C>T" "" "{PMID:Kim 2006:17041896}" "BclI+" "" "OTC activity ?, Serum ammonia 782, Urine orotic acid 3618, Serum citrulline 5.3," "Germline" "" "" "0" "" "" "g.38411952C>T" "" "VUS" "" "0000183295" "1" "50" "X" "38271206" "38271206" "subst" "0" "02152" "OTC_000019" "g.38271206G>T" "" "Grompe 1991" "TaqI;DpnI" "" "OTC activity -3.90%" "Germline" "" "" "0" "" "" "g.38411953G>T" "" "VUS" "" "0000183296" "1" "50" "X" "38271209" "38271209" "subst" "0" "02152" "OTC_000249" "g.38271209C>A" "" "{PMID:Tuchman 2002:11793468}" "DpnI;MboI" "" "" "Germline" "" "" "0" "" "" "g.38411956C>A" "" "VUS" "" "0000183297" "1" "50" "X" "38271214" "38271214" "subst" "0" "02152" "OTC_000274" "g.38271214G>A" "" "{PMID:Kim 2006:17041896}" "" "" "not in 100 control chromosomes; OTC activity 23.3, Serum ammonia 182, Urine orotic acid NA, Serum citrulline 5.1," "Germline" "" "" "0" "" "" "g.38411961G>A" "" "VUS" "" "0000183298" "1" "50" "X" "38271223" "38271223" "subst" "0" "02152" "OTC_000180" "g.38271223G>A" "" "Popowska 1999" "MnlI" "" "" "Germline" "" "" "0" "" "" "g.38411970G>A" "" "VUS" "" "0000183299" "1" "50" "X" "38271229" "38271229" "subst" "0" "02152" "OTC_000346" "g.38271229G>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411976G>T" "" "VUS" "" "0000183300" "1" "50" "X" "38271235" "38271235" "subst" "0" "02152" "OTC_000135" "g.38271235A>G" "" "{PMID:Tuchman 1997:09266388}" "" "" "" "Germline" "" "" "0" "" "" "g.38411982A>G" "" "VUS" "" "0000183301" "1" "50" "X" "38271235" "38271237" "delins" "0" "02152" "OTC_000347" "g.38271235_38271237delinsT" "" "Climent and Rubio 2002b" "" "" "" "Germline" "" "" "0" "" "" "g.38411982_38411984delinsT" "" "VUS" "" "0000183302" "1" "50" "X" "38271236" "38271237" "del" "0" "02152" "OTC_000250" "g.38271236_38271237del" "" "{PMID:Climent and Rubio 2002:11793483}" "DdeI" "" "" "Germline" "" "" "0" "" "" "g.38411983_38411984del" "" "VUS" "" "0000183303" "1" "50" "X" "38271238" "38271238" "subst" "0" "02152" "OTC_000348" "g.38271238A>T" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411985A>T" "" "VUS" "" "0000183304" "1" "50" "X" "38271241" "38271241" "subst" "0" "02152" "OTC_000349" "g.38271241T>A" "" "Rapp 2001" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38411988T>A" "" "VUS" "" "0000183305" "1" "50" "X" "38271242" "38271242" "subst" "0" "02152" "OTC_000350" "g.38271242G>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38411989G>A" "" "VUS" "" "0000183306" "1" "50" "X" "38271243" "38271243" "subst" "0" "02152" "OTC_000059" "g.38271243G>A" "" "Matsuura 1994" "" "" "" "Germline" "" "" "0" "" "" "g.38411990G>A" "" "VUS" "" "0000183307" "1" "50" "X" "38271244" "38271244" "subst" "0" "02152" "OTC_000251" "g.38271244A>G" "" "{PMID:Climent and Rubio 2002:11793483}" "" "" "" "Germline" "" "" "0" "" "" "g.38411991A>G" "" "VUS" "" "0000183308" "1" "50" "X" "38267995" "38271252" "del" "0" "02152" "OTC_000009" "g.38267995_38271252del" "" "{PMID:Leguis 1990:02208768}, {OMIM300461:0001}" "" "" "deletion exons 7-9, somatic mosaicism\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Somatic" "" "" "0" "" "" "g.38408742_38411999del" "" "VUS" "" "0000183309" "1" "50" "X" "38271115" "38271252" "del" "0" "02152" "OTC_000029" "g.38271115_38271252del" "" "{PMID:Suess 1992:1627356}" "" "" "deletion exon 9\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38411862_38411999del" "" "VUS" "" "0000183310" "1" "50" "X" "38271115" "38271252" "del" "0" "02152" "OTC_000029" "g.38271115_38271252del" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38411862_38411999del" "" "VUS" "" "0000183311" "1" "50" "X" "38271252" "38271252" "subst" "0" "02152" "OTC_000242" "g.38271252G>A" "" "{PMID:Tuchman 2002:11793468}" "NlaIII" "" "" "Germline" "" "" "0" "" "" "g.38411999G>A" "" "VUS" "" "0000183312" "1" "50" "X" "38271253" "38271253" "subst" "0" "02152" "OTC_000132" "g.38271253G>T" "" "{PMID:Tuchman 1997:09266388}" "MseI" "c.IVS9+1G>T" "" "Germline" "" "" "0" "" "" "g.38412000G>T" "" "VUS" "" "0000183313" "1" "50" "X" "38271254" "38271254" "subst" "0" "02152" "OTC_000241" "g.38271254T>C" "" "{PMID:Tuchman 2002:11793468}" "Cac8I" "c.IVS9+2T>C" "" "Germline" "" "" "0" "" "" "g.38412001T>C" "" "VUS" "" "0000183314" "21" "90" "X" "38272343" "38272343" "subst" "0" "00006" "OTC_000397" "g.38272343C>G" "" "{PMID:Engel 2008:18440262}" "" "" "premature stop codon (340X)" "Germline" "" "" "0" "" "" "g.38413090C>G" "" "pathogenic" "" "0000183315" "20" "90" "X" "38237159" "38272992" "del" "0" "00006" "OTC_000392" "g.38237159_38272992del" "" "{PMID:Engel 2008:18440262}" "" "" "35,832 bp deletion (incl. exons 4-9)\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "g.38377906_38413739del" "" "pathogenic" "" "0000183316" "1" "50" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "1/57" "{PMID:Azevedo 2003:12618087}" "HphI;EcoNI;BsiYI" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "VUS" "" "0000183317" "1" "10" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "24/103" "{PMID:Azevedo 2003:12618087}" "HphI;EcoNI;BsiYI" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "benign" "" "0000183318" "10" "10" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "benign" "" "0000183319" "20" "10" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "" "{PMID:Engel 2008:18440262}" "" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "benign" "" "0000183320" "1" "10" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "6/57" "{PMID:Azevedo 2003:12618087}" "HphI;EcoNI;BsiYI" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "benign" "" "0000183321" "1" "10" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "3/57" "{PMID:Azevedo 2003:12618087}" "HphI;EcoNI;BsiYI" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "benign" "" "0000183322" "1" "10" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "3/103" "{PMID:Azevedo 2003:12618087}" "HphI;EcoNI;BsiYI" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "benign" "" "0000183323" "1" "10" "X" "38280206" "38280206" "subst" "0" "00006" "OTC_000259" "g.38280206C>T" "1/57" "{PMID:Azevedo 2003:12618087}" "HphI;EcoNI;BsiYI" "" "" "Germline" "" "rs12557315" "0" "" "" "g.38420953C>T" "" "benign" "" "0000183324" "1" "50" "X" "38280264" "38280264" "subst" "0" "02152" "OTC_000045" "g.38280264G>T" "<0.01" "Matsuura 1993" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38421011G>T" "" "VUS" "" "0000183325" "10" "10" "X" "38280264" "38280264" "subst" "0" "00006" "OTC_000045" "g.38280264G>T" "" "{PMID:Engel 2008:18440262}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38421011G>T" "" "benign" "" "0000183326" "20" "10" "X" "38280264" "38280264" "subst" "0" "00006" "OTC_000045" "g.38280264G>T" "" "{PMID:Engel 2008:18440262}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.38421011G>T" "" "benign" "" "0000183327" "1" "50" "X" "38280273" "38280273" "subst" "0" "02152" "OTC_000252" "g.38280273C>G" "" "{PMID:Climent and Rubio 2002:11793483}" "BspHI;MnlI" "" "OTC activity 2.70%" "Germline" "" "" "0" "" "" "g.38421020C>G" "" "VUS" "" "0000183328" "1" "50" "X" "38280275" "38280275" "subst" "0" "02152" "OTC_000352" "g.38280275G>A" "" "Gyato 2004" "" "" "OTC activity 0%" "Germline" "" "" "0" "" "" "g.38421022G>A" "" "VUS" "" "0000183329" "1" "50" "X" "38280276" "38280276" "subst" "0" "02152" "OTC_000171" "g.38280276G>T" "" "{PMID:Tuchman 1998:09686344}" "CviJI" "" "" "Germline" "" "" "0" "" "" "g.38421023G>T" "" "VUS" "" "0000183330" "1" "50" "X" "38280279" "38280279" "subst" "0" "02152" "OTC_000136" "g.38280279G>C" "" "Matsuda and Tanase 1997; Rohininath 2004" "" "" "" "Germline" "" "" "0" "" "" "g.38421026G>C" "" "VUS" "" "0000183331" "1" "50" "X" "38280285" "38280285" "subst" "0" "02152" "OTC_000137" "g.38280285G>C" "" "{PMID:Tuchman 1997:09266388}" "MwoI" "" "" "Germline" "" "" "0" "" "" "g.38421032G>C" "" "VUS" "" "0000183332" "1" "50" "X" "38280285" "38280285" "subst" "0" "02152" "OTC_000137" "g.38280285G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38421032G>C" "" "VUS" "" "0000183333" "1" "50" "X" "38280288" "38280288" "subst" "0" "02152" "OTC_000138" "g.38280288T>C" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "BanI;BsmFI" "" "" "Germline" "" "" "0" "" "" "g.38421035T>C" "" "VUS" "" "0000183335" "1" "50" "X" "38280298" "38280298" "subst" "0" "02152" "OTC_000077" "g.38280298C>A" "" "{PMID:Tuchman and Plante 1995:07627182}" "" "" "" "Germline" "" "" "0" "" "" "g.38421045C>A" "" "VUS" "" "0000183336" "1" "50" "X" "38280303" "38280303" "subst" "0" "02152" "OTC_000353" "g.38280303T>C" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38421050T>C" "" "VUS" "" "0000183337" "1" "50" "X" "38280303" "38280303" "subst" "0" "02152" "OTC_000031" "g.38280303T>G" "" "{PMID:Tuchman 1992:1480464}" "HinfI;PleI" "" "" "Germline" "" "" "0" "" "" "g.38421050T>G" "" "VUS" "" "0000183338" "1" "50" "X" "38280304" "38280304" "subst" "0" "02152" "OTC_000172" "g.38280304A>G" "" "{PMID:Tuchman 1998:09686344}" "" "" "" "Germline" "" "" "0" "" "" "g.38421051A>G" "" "VUS" "" "0000183339" "1" "50" "X" "38280309" "38280309" "subst" "0" "02152" "OTC_000354" "g.38280309C>A" "" "{PMID:Yamaguchi 2006:16786505}" "" "" "" "Germline" "" "" "0" "" "" "g.38421056C>A" "" "VUS" "" "0000183340" "1" "50" "X" "38280312" "38280312" "subst" "0" "02152" "OTC_000139" "g.38280312C>T" "" "{PMID:Oppliger Leibundgut 1997:09143919}" "MnlI;BbvCI" "" "" "Germline" "" "" "0" "" "" "g.38421059C>T" "" "VUS" "" "0000183341" "1" "50" "X" "38280331" "38280331" "subst" "5.6152E-6" "02152" "OTC_000097" "g.38280331T>G" "" "Myers and Shook1996" "ApoI;Tsp509I" "" "OTC activity 1.80%" "Germline" "" "" "0" "" "" "g.38421078T>G" "" "VUS" "" "0000247723" "0" "10" "X" "38226603" "38226603" "subst" "0.18691" "02330" "OTC_000005" "g.38226603A>G" "" "" "" "OTC(NM_000531.5):c.137A>G (p.K46R), OTC(NM_000531.6):c.137A>G (p.K46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38367350A>G" "" "benign" "" "0000247725" "0" "10" "X" "38268220" "38268220" "subst" "0.029447" "02330" "OTC_000028" "g.38268220A>G" "" "" "" "OTC(NM_000531.5):c.809A>G (p.Q270R), OTC(NM_000531.6):c.809A>G (p.Q270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38408967A>G" "" "benign" "" "0000253375" "0" "10" "X" "38226603" "38226603" "subst" "0.18691" "01943" "OTC_000005" "g.38226603A>G" "" "" "" "OTC(NM_000531.5):c.137A>G (p.K46R), OTC(NM_000531.6):c.137A>G (p.K46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38367350A>G" "" "benign" "" "0000253382" "0" "10" "X" "38268220" "38268220" "subst" "0.029447" "01943" "OTC_000028" "g.38268220A>G" "" "" "" "OTC(NM_000531.5):c.809A>G (p.Q270R), OTC(NM_000531.6):c.809A>G (p.Q270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38408967A>G" "" "benign" "" "0000256559" "0" "50" "X" "38226596" "38226596" "subst" "0" "01943" "OTC_000411" "g.38226596A>G" "" "" "" "OTC(NM_000531.5):c.130A>G (p.T44A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38367343A>G" "" "VUS" "" "0000293406" "0" "30" "X" "38240587" "38240587" "del" "0" "02330" "OTC_000406" "g.38240587del" "" "" "" "OTC(NM_000531.5):c.299-8delT, OTC(NM_000531.6):c.299-8del, OTC(NM_000531.6):c.299-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38381334del" "" "likely benign" "" "0000293407" "0" "10" "X" "38240587" "38240587" "subst" "0.150976" "02330" "OTC_000064" "g.38240587T>A" "" "" "" "OTC(NM_000531.5):c.299-8T>A, OTC(NM_000531.6):c.299-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38381334T>A" "" "benign" "" "0000293408" "0" "10" "X" "38262951" "38262951" "subst" "0.000151366" "02330" "OTC_000409" "g.38262951C>T" "" "" "" "OTC(NM_000531.6):c.621C>T (p.S207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38403698C>T" "" "benign" "" "0000293409" "0" "10" "X" "38268115" "38268115" "subst" "0.0160586" "02330" "OTC_000410" "g.38268115T>C" "" "" "" "OTC(NM_000531.6):c.718-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38408862T>C" "" "benign" "" "0000296692" "0" "70" "X" "38260562" "38260562" "subst" "0" "02325" "OTC_000006" "g.38260562C>T" "" "" "" "OTC(NM_000531.6):c.421C>T (p.R141*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38401309C>T" "" "likely pathogenic" "" "0000304839" "0" "10" "X" "38240561" "38240561" "dup" "0" "01943" "OTC_000405" "g.38240561dup" "" "" "" "OTC(NM_000531.5):c.299-34dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38381308dup" "" "benign" "" "0000304840" "0" "10" "X" "38240587" "38240587" "del" "0" "01943" "OTC_000407" "g.38240587del" "" "" "" "OTC(NM_000531.5):c.299-8delT, OTC(NM_000531.6):c.299-8del, OTC(NM_000531.6):c.299-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38381334del" "" "benign" "" "0000304841" "0" "10" "X" "38240587" "38240587" "subst" "0.150976" "01943" "OTC_000064" "g.38240587T>A" "" "" "" "OTC(NM_000531.5):c.299-8T>A, OTC(NM_000531.6):c.299-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38381334T>A" "" "benign" "" "0000304842" "0" "50" "X" "38240679" "38240679" "subst" "0" "01943" "OTC_000408" "g.38240679C>G" "" "" "" "OTC(NM_000531.5):c.383C>G (p.A128G, p.(Ala128Gly)), OTC(NM_000531.6):c.383C>G (p.A128G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38381426C>G" "" "VUS" "" "0000304843" "0" "90" "X" "38260563" "38260563" "subst" "0" "01943" "OTC_000002" "g.38260563G>A" "" "" "" "OTC(NM_000531.5):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38401310G>A" "" "pathogenic" "" "0000304844" "0" "90" "X" "38262952" "38262952" "subst" "0" "01943" "OTC_000087" "g.38262952G>A" "" "" "" "OTC(NM_000531.5):c.622G>A (p.A208T), OTC(NM_000531.6):c.622G>A (p.A208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38403699G>A" "" "pathogenic" "" "0000304845" "0" "30" "X" "38226549" "38226549" "subst" "6.19847E-5" "01943" "OTC_000404" "g.38226549G>A" "" "" "" "OTC(NM_000531.5):c.83G>A (p.G28E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38367296G>A" "" "likely benign" "" "0000337931" "0" "30" "X" "38229135" "38229135" "subst" "0.00156375" "02327" "OTC_000378" "g.38229135G>C" "" "" "" "OTC(NM_000531.5):c.298+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38369882G>C" "" "likely benign" "" "0000405793" "21" "70" "X" "38271175" "38271175" "subst" "0" "02568" "OTC_000412" "g.38271175G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38411922G>A" "" "likely pathogenic" "" "0000438968" "20" "90" "X" "38260946" "38260946" "subst" "0" "00006" "OTC_000395" "g.38260946G>A" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.38401693G>A" "" "pathogenic" "" "0000575852" "0" "30" "X" "38212025" "38212025" "subst" "0" "01804" "OTC_000413" "g.38212025C>T" "" "" "" "OTC(NM_000531.5):c.76C>T (p.R26W, p.(Arg26Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38352772C>T" "" "likely benign" "" "0000575853" "0" "70" "X" "38226640" "38226640" "subst" "0" "02325" "OTC_000366" "g.38226640G>A" "" "" "" "OTC(NM_000531.6):c.174G>A (p.W58*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38367387G>A" "" "likely pathogenic" "" "0000575854" "0" "30" "X" "38260544" "38260544" "subst" "1.68567E-5" "01943" "OTC_000414" "g.38260544G>A" "" "" "" "OTC(NM_000531.5):c.403G>A (p.A135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38401291G>A" "" "likely benign" "" "0000575855" "0" "30" "X" "38260570" "38260570" "subst" "0.000917369" "01943" "OTC_000149" "g.38260570T>C" "" "" "" "OTC(NM_000531.5):c.429T>C (p.Y143=), OTC(NM_000531.6):c.429T>C (p.Y143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38401317T>C" "" "likely benign" "" "0000575856" "0" "30" "X" "38260639" "38260639" "subst" "4.48029E-5" "02330" "OTC_000415" "g.38260639G>T" "" "" "" "OTC(NM_000531.5):c.498G>T (p.L166F), OTC(NM_000531.6):c.498G>T (p.L166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38401386G>T" "" "likely benign" "" "0000575857" "0" "70" "X" "38262916" "38262916" "subst" "0" "02327" "OTC_000309" "g.38262916G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38403663G>A" "" "likely pathogenic" "" "0000575858" "0" "10" "X" "38268162" "38268162" "subst" "0.00187664" "02330" "OTC_000416" "g.38268162T>C" "" "" "" "OTC(NM_000531.6):c.751T>C (p.L251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38408909T>C" "" "benign" "" "0000575860" "0" "30" "X" "38268238" "38268238" "subst" "0" "01943" "OTC_000417" "g.38268238A>C" "" "" "" "OTC(NM_000531.5):c.827A>C (p.K276T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38408985A>C" "" "likely benign" "" "0000575861" "0" "50" "X" "38268249" "38268249" "subst" "0" "01943" "OTC_000418" "g.38268249G>A" "" "" "" "OTC(NM_000531.5):c.838G>A (p.A280T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38408996G>A" "" "VUS" "" "0000575862" "0" "30" "X" "38271192" "38271192" "subst" "1.68014E-5" "01943" "OTC_000419" "g.38271192C>G" "" "" "" "OTC(NM_000531.5):c.945C>G (p.V315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38411939C>G" "" "likely benign" "" "0000578166" "21" "90" "X" "38268279" "38268279" "subst" "0" "00006" "OTC_000092" "g.38268279G>T" "" "{PMID:Haberle 2004:15164414}" "" "IVS8+1G>T" "" "Germline" "" "" "0" "" "" "g.38409026G>T" "" "pathogenic (recessive)" "" "0000619528" "0" "50" "X" "38260550" "38260550" "subst" "5.61918E-6" "01943" "OTC_000286" "g.38260550G>A" "" "" "" "OTC(NM_000531.5):c.409G>A (p.A137T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38401297G>A" "" "VUS" "" "0000652914" "1" "90" "X" "38212026" "38212026" "subst" "0" "03575" "OTC_000003" "g.38212026G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs68031618}" "Germline" "" "rs68031618" "0" "" "" "g.38352773G>A" "" "pathogenic" "" "0000652915" "1" "10" "X" "38226603" "38226603" "subst" "0.18691" "03575" "OTC_000005" "g.38226603A>G" "82/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "82 heterozygous; {DB:CLININexm1634727}" "Germline" "" "" "0" "" "" "g.38367350A>G" "" "benign" "" "0000653090" "1" "90" "X" "38229107" "38229107" "subst" "0" "03575" "OTC_000013" "g.38229107G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs66550389}" "Germline" "" "rs66550389" "0" "" "" "g.38369854G>A" "" "pathogenic" "" "0000653091" "1" "30" "X" "38268220" "38268220" "subst" "0.029447" "03575" "OTC_000028" "g.38268220A>G" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous; {DB:CLININrs1800328}" "Germline" "" "rs1800328" "0" "" "" "g.38408967A>G" "" "likely benign" "" "0000670120" "0" "10" "X" "38226603" "38226603" "subst" "0.18691" "03575" "OTC_000005" "g.38226603A>G" "78/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "78 homozygous; {DB:CLININexm1634727}" "Germline" "" "" "0" "" "" "g.38367350A>G" "" "benign" "" "0000670150" "0" "30" "X" "38268220" "38268220" "subst" "0.029447" "03575" "OTC_000028" "g.38268220A>G" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 homozygous; {DB:CLININrs1800328}" "Germline" "" "rs1800328" "0" "" "" "g.38408967A>G" "" "likely benign" "" "0000673562" "21" "70" "X" "38226585" "38226585" "subst" "0" "03695" "OTC_000046" "g.38226585G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38367332G>A" "" "likely pathogenic" "" "0000673586" "21" "70" "X" "38260681" "38260681" "subst" "0" "03695" "OTC_000120" "g.38260681G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38401428G>C" "" "likely pathogenic" "" "0000673604" "21" "70" "X" "38226642" "38226642" "subst" "0" "03695" "OTC_000420" "g.38226642T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38367389T>C" "" "likely pathogenic" "" "0000673951" "21" "90" "X" "38268214" "38268214" "subst" "0" "03695" "OTC_000042" "g.38268214T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.38408961T>C" "" "pathogenic" "" "0000682417" "0" "30" "X" "38260639" "38260639" "subst" "4.48029E-5" "01943" "OTC_000415" "g.38260639G>T" "" "" "" "OTC(NM_000531.5):c.498G>T (p.L166F), OTC(NM_000531.6):c.498G>T (p.L166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682418" "0" "90" "X" "38271205" "38271205" "subst" "0" "02325" "OTC_000096" "g.38271205C>T" "" "" "" "OTC(NM_000531.6):c.958C>T (p.R320*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000686171" "20" "90" "X" "38280331" "38280331" "subst" "5.6152E-6" "00006" "OTC_000097" "g.38280331T>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000693578" "0" "30" "X" "38229102" "38229102" "subst" "5.6023E-6" "01943" "OTC_000421" "g.38229102T>C" "" "" "" "OTC(NM_000531.5):c.270T>C (p.S90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693579" "0" "90" "X" "38268240" "38268240" "subst" "0" "02327" "OTC_000010" "g.38268240C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728863" "0" "30" "X" "38212025" "38212025" "subst" "0" "01943" "OTC_000413" "g.38212025C>T" "" "" "" "OTC(NM_000531.5):c.76C>T (p.R26W, p.(Arg26Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728864" "0" "50" "X" "38226630" "38226630" "subst" "0" "01943" "OTC_000422" "g.38226630A>G" "" "" "" "OTC(NM_000531.5):c.164A>G (p.Y55C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728865" "0" "30" "X" "38240662" "38240662" "subst" "0" "01943" "OTC_000423" "g.38240662A>G" "" "" "" "OTC(NM_000531.5):c.366A>G (p.E122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000790976" "0" "70" "X" "38240575" "38260701" "del" "0" "02762" "OTC_000424" "g.38240575_38260701del" "" "" "" "299-20_540+20del" "variant description correct, deletion break point actually sequenced?" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000810351" "0" "10" "X" "38226603" "38226603" "subst" "0.18691" "02327" "OTC_000005" "g.38226603A>G" "" "" "" "OTC(NM_000531.5):c.137A>G (p.K46R), OTC(NM_000531.6):c.137A>G (p.K46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810352" "0" "10" "X" "38240587" "38240587" "subst" "0.150976" "02327" "OTC_000064" "g.38240587T>A" "" "" "" "OTC(NM_000531.5):c.299-8T>A, OTC(NM_000531.6):c.299-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000810353" "0" "90" "X" "38262952" "38262952" "subst" "0" "02330" "OTC_000087" "g.38262952G>A" "" "" "" "OTC(NM_000531.5):c.622G>A (p.A208T), OTC(NM_000531.6):c.622G>A (p.A208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810354" "0" "30" "X" "38268220" "38268220" "subst" "0.029447" "02327" "OTC_000028" "g.38268220A>G" "" "" "" "OTC(NM_000531.5):c.809A>G (p.Q270R), OTC(NM_000531.6):c.809A>G (p.Q270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810355" "0" "70" "X" "38271191" "38271191" "subst" "0" "02327" "OTC_000425" "g.38271191T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000810356" "0" "30" "X" "38271206" "38271206" "subst" "0" "01943" "OTC_000426" "g.38271206G>A" "" "" "" "OTC(NM_000531.5):c.959G>A (p.R320Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000825071" "0" "70" "X" "38260946" "38260946" "subst" "0" "00000" "OTC_000395" "g.38260946G>A" "" "{PMID:Bergant 2021:33807868}" "" "NM_000531.6(OTC):c.540 + 265G > A (het)" "cryptic intronic donor splice site resulting in the inclusion of a novel 135 bp exon, heterozygous" "Germline" "yes" "" "0" "" "" "g.38401693G>A" "" "likely pathogenic" "" "0000856588" "0" "70" "X" "38262956" "38262956" "subst" "0" "02327" "OTC_000073" "g.38262956C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000867348" "0" "30" "X" "38268006" "38268006" "subst" "5.04994E-5" "01943" "OTC_000427" "g.38268006G>A" "" "" "" "OTC(NM_000531.5):c.675G>A (p.P225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896201" "0" "90" "X" "38260674" "38260674" "subst" "0" "02327" "OTC_000071" "g.38260674C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896202" "0" "90" "X" "38262952" "38262952" "subst" "0" "02325" "OTC_000087" "g.38262952G>A" "" "" "" "OTC(NM_000531.5):c.622G>A (p.A208T), OTC(NM_000531.6):c.622G>A (p.A208T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915709" "0" "30" "X" "38268220" "38268220" "subst" "0.029447" "02325" "OTC_000028" "g.38268220A>G" "" "" "" "OTC(NM_000531.5):c.809A>G (p.Q270R), OTC(NM_000531.6):c.809A>G (p.Q270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918597" "0" "90" "X" "35409236" "38899055" "del" "0" "00006" "CYBB_000481" "g.35409236_38899055del" "" "{PMID:Yamada 2010:20813210}" "" "hg17 35168893-38655271del" "deletion incl. XK, CYBB, RPGR, OTC, TSPAN7" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000931411" "0" "30" "X" "38260570" "38260570" "subst" "0.000917369" "02326" "OTC_000149" "g.38260570T>C" "" "" "" "OTC(NM_000531.5):c.429T>C (p.Y143=), OTC(NM_000531.6):c.429T>C (p.Y143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951750" "0" "50" "X" "38240679" "38240679" "subst" "0" "02325" "OTC_000408" "g.38240679C>G" "" "" "" "OTC(NM_000531.5):c.383C>G (p.A128G, p.(Ala128Gly)), OTC(NM_000531.6):c.383C>G (p.A128G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984661" "0" "30" "X" "38240587" "38240587" "del" "0" "01804" "OTC_000406" "g.38240587del" "" "" "" "OTC(NM_000531.5):c.299-8delT, OTC(NM_000531.6):c.299-8del, OTC(NM_000531.6):c.299-8delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984662" "0" "50" "X" "38240603" "38240603" "subst" "5.67579E-6" "01804" "OTC_000428" "g.38240603C>G" "" "" "" "OTC(NM_000531.6):c.307C>G (p.(Leu103Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985866" "0" "90" "X" "38280298" "38280298" "subst" "0" "00006" "OTC_000441" "g.38280298C>G" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38421045C>G" "" "pathogenic" "" "0000985867" "0" "90" "X" "38262995" "38262995" "subst" "0" "00006" "OTC_000126" "g.38262995T>C" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "IV6+2T>C" "" "Germline" "" "" "0" "" "" "g.38403742T>C" "" "pathogenic" "" "0000985868" "0" "90" "X" "38260674" "38260674" "subst" "0" "00006" "OTC_000071" "g.38260674C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38401421C>T" "" "pathogenic" "" "0000985869" "0" "90" "X" "38260562" "38260562" "subst" "0" "00006" "OTC_000006" "g.38260562C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38401309C>T" "" "pathogenic" "" "0000985870" "0" "90" "X" "38260674" "38260674" "subst" "0" "00006" "OTC_000071" "g.38260674C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38401421C>T" "" "pathogenic" "" "0000985871" "0" "90" "X" "38271161" "38271161" "subst" "0" "00006" "OTC_000341" "g.38271161C>G" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38411908C>G" "" "pathogenic" "" "0000985872" "0" "90" "X" "38262934" "38262934" "subst" "0" "00006" "OTC_000122" "g.38262934C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403681C>T" "" "pathogenic" "" "0000985873" "0" "90" "X" "38229119" "38229119" "subst" "0" "00006" "OTC_000434" "g.38229119C>T" "" "{PMID:Arranz 2007:17334707}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38369866C>T" "" "pathogenic" "" "0000985874" "0" "90" "X" "38268228" "38268230" "del" "0" "00006" "OTC_000091" "g.38268228_38268230del" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "del814-816GAG" "" "Germline" "" "" "0" "" "" "g.38408975_38408977del" "" "pathogenic" "" "0000985875" "0" "90" "X" "38240683" "38240683" "subst" "0" "00006" "OTC_000279" "g.38240683G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "IVS4+1G>A" "" "Germline" "" "" "0" "" "" "g.38381430G>A" "" "pathogenic" "" "0000985876" "0" "90" "X" "38240661" "38240661" "subst" "0" "00006" "OTC_000436" "g.38240661A>G" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38381408A>G" "" "pathogenic" "" "0000985877" "0" "90" "X" "38226585" "38226585" "subst" "0" "00006" "OTC_000046" "g.38226585G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38367332G>A" "" "pathogenic" "" "0000985878" "0" "90" "X" "38226585" "38226585" "subst" "0" "00006" "OTC_000046" "g.38226585G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38367332G>A" "" "pathogenic" "" "0000985879" "0" "90" "X" "38229096" "38229096" "subst" "0" "00006" "OTC_000033" "g.38229096A>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38369843A>T" "" "pathogenic" "" "0000985880" "0" "90" "X" "38212016" "38212016" "subst" "0" "00006" "OTC_000011" "g.38212016C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38352763C>T" "" "pathogenic" "" "0000985881" "0" "90" "X" "38240682" "38240682" "subst" "0" "00006" "OTC_000049" "g.38240682G>A" "" "{PMID:Garcia-Perez 1995:7860064}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "pathogenic" "" "0000985882" "0" "90" "X" "38240682" "38240682" "subst" "0" "00006" "OTC_000049" "g.38240682G>A" "" "{PMID:Garcia-Perez 1995:7860064}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "pathogenic" "" "0000985883" "0" "90" "X" "38226671" "38226671" "subst" "0" "00006" "OTC_000173" "g.38226671C>T" "" "{PMID:Climent 1999:10502831}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38367418C>T" "" "pathogenic" "" "0000985884" "0" "90" "X" "" "" "" "" "00006" "CYBB_000005" "g.(?_g.38211736)_(38280703_?)del" "" "{PMID:Climent 1999:10502831}, {PMID:Martin-Hernandez 2014:25433810}" "" "delOTC gene >1.6 Mb" "" "Germline" "" "" "0" "" "" "g.(?_38352483)_(38421450_?)del" "" "pathogenic" "" "0000985885" "0" "90" "X" "38262913" "38262913" "subst" "0" "00006" "OTC_000052" "g.38262913G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403660G>A" "" "pathogenic" "" "0000985886" "0" "90" "X" "38262913" "38262913" "subst" "0" "00006" "OTC_000052" "g.38262913G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403660G>A" "" "pathogenic" "" "0000985887" "0" "90" "X" "38240682" "38240682" "subst" "0" "00006" "OTC_000049" "g.38240682G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "pathogenic" "" "0000985888" "0" "90" "X" "38240687" "38240687" "subst" "0" "00006" "OTC_000437" "g.38240687G>A" "" "{PMID:Arranz 2007:17334707}, {PMID:Martin-Hernandez 2014:25433810}" "" "IVS4+5G>A" "" "Germline" "" "" "0" "" "" "g.38381434G>A" "" "pathogenic" "" "0000985889" "0" "90" "X" "38229110" "38229110" "subst" "0" "00006" "OTC_000433" "g.38229110C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38369857C>T" "" "pathogenic" "" "0000985890" "0" "90" "X" "38240682" "38240682" "subst" "0" "00006" "OTC_000049" "g.38240682G>A" "" "{PMID:Garcia-Perez 1995:7860064}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "pathogenic" "" "0000985891" "0" "90" "X" "38262956" "38262956" "subst" "0" "00006" "OTC_000073" "g.38262956C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "86C>T" "" "Germline" "" "" "0" "" "" "g.38403703C>T" "" "pathogenic" "" "0000985892" "0" "90" "X" "38260617" "38260617" "subst" "0" "00006" "OTC_000068" "g.38260617T>C" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38401364T>C" "" "pathogenic" "" "0000985893" "0" "90" "X" "38260655" "38260655" "subst" "0" "00006" "OTC_000174" "g.38260655A>T" "" "{PMID:Climent 1999:10502831}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38401402A>T" "" "pathogenic" "" "0000985894" "0" "90" "X" "38268240" "38268240" "subst" "0" "00006" "OTC_000010" "g.38268240C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38408987C>T" "" "pathogenic" "" "0000985895" "0" "90" "X" "38262901" "38262901" "subst" "0" "00006" "OTC_000227" "g.38262901C>T" "" "{PMID:Climent 2002:11793483}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "OTC activity 0.057" "Germline" "" "" "0" "" "" "g.38403648C>T" "" "pathogenic" "" "0000985896" "0" "90" "X" "38262952" "38262952" "subst" "0" "00006" "OTC_000087" "g.38262952G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403699G>A" "" "pathogenic" "" "0000985897" "0" "90" "X" "38229095" "38229095" "subst" "0" "00006" "OTC_000432" "g.38229095A>C" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38369842A>C" "" "pathogenic" "" "0000985898" "0" "90" "X" "38262952" "38262952" "subst" "0" "00006" "OTC_000087" "g.38262952G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403699G>A" "" "pathogenic" "" "0000985899" "0" "90" "X" "38229131" "38229131" "subst" "0" "00006" "OTC_000435" "g.38229131G>C" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "IVS3+1G>C" "" "Germline" "" "" "0" "" "" "g.38369878G>C" "" "pathogenic" "" "0000985900" "0" "90" "X" "38280288" "38280288" "subst" "0" "00006" "OTC_000138" "g.38280288T>C" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "1018C>T" "" "Germline" "" "" "0" "" "" "g.38421035T>C" "" "pathogenic" "" "0000985901" "0" "90" "X" "38280292" "38280292" "subst" "0" "00006" "OTC_000253" "g.38280292T>C" "" "{PMID:Climent 2002:11793483}, {PMID:Martin-Hernandez 2014:25433810}" "" "1022C>T" "" "Germline" "" "" "0" "" "" "g.38421039T>C" "" "pathogenic" "" "0000985902" "0" "90" "X" "38260623" "38260623" "subst" "0" "00006" "OTC_000069" "g.38260623A>G" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38401370A>G" "" "pathogenic" "" "0000985903" "0" "90" "X" "38226610" "38226610" "del" "0" "00006" "OTC_000429" "g.38226610del" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "144delT" "" "Germline" "" "" "0" "" "" "g.38367357del" "" "pathogenic" "" "0000985904" "0" "90" "X" "38229086" "38229086" "subst" "0" "00006" "OTC_000431" "g.38229086T>G" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38369833T>G" "" "pathogenic" "" "0000985905" "0" "90" "X" "38226585" "38226585" "subst" "0" "00006" "OTC_000046" "g.38226585G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38367332G>A" "" "pathogenic" "" "0000985906" "0" "90" "X" "38226585" "38226585" "subst" "0" "00006" "OTC_000046" "g.38226585G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38367332G>A" "" "pathogenic" "" "0000985907" "0" "90" "X" "38226620" "38226620" "subst" "0" "00006" "OTC_000183" "g.38226620G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38367367G>A" "" "pathogenic" "" "0000985908" "0" "90" "X" "38262913" "38262913" "subst" "0" "00006" "OTC_000052" "g.38262913G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403660G>A" "" "pathogenic" "" "0000985909" "0" "90" "X" "38262952" "38262952" "subst" "0" "00006" "OTC_000087" "g.38262952G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403699G>A" "" "pathogenic" "" "0000985910" "0" "90" "X" "38271179" "38271179" "subst" "0" "00006" "OTC_000440" "g.38271179T>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38411926T>A" "" "pathogenic" "" "0000985911" "0" "90" "X" "38262935" "38262935" "subst" "0" "00006" "OTC_000438" "g.38262935A>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38403682A>T" "" "pathogenic" "" "0000985912" "0" "90" "X" "38240684" "38240684" "subst" "0" "00006" "OTC_000280" "g.38240684T>C" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "IVS4+2T>C" "" "Germline" "" "" "0" "" "" "g.38381431T>C" "" "pathogenic" "" "0000985913" "0" "90" "X" "38262960" "38262960" "del" "0" "00006" "OTC_000439" "g.38262960del" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "630delA" "" "Germline" "" "" "0" "" "" "g.38403707del" "" "pathogenic" "" "0000985914" "0" "90" "X" "" "" "" "" "00006" "CYBB_000005" "g.(?_g.38211736)_(38280703_?)del" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "delOTC gene >1.6 Mb" "" "Germline" "" "" "0" "" "" "g.(?_38352483)_(38421450_?)del" "" "pathogenic" "" "0000985915" "0" "90" "X" "38271205" "38271205" "subst" "0" "00006" "OTC_000096" "g.38271205C>T" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38411952C>T" "" "pathogenic" "" "0000985916" "0" "90" "X" "38240682" "38240682" "subst" "0" "00006" "OTC_000049" "g.38240682G>A" "" "{PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "pathogenic" "" "0000985917" "0" "90" "X" "38226677" "38226677" "subst" "0" "00006" "OTC_000430" "g.38226677G>T" "" "{PMID:Arranz 2007:17334707}, {PMID:Martin-Hernandez 2014:25433810}" "" "" "" "Germline" "" "" "0" "" "" "g.38367424G>T" "" "pathogenic" "" "0000987573" "0" "90" "X" "38262913" "38262913" "subst" "0" "04221" "OTC_000052" "g.38262913G>A" "" "" "" "" "Miller 2022:35802134, Miller 2021:34012068, Lu 2020:33272297" "Germline" "yes" "rs67294955" "0" "" "" "g.38403660G>A" "{CV:97255}" "pathogenic" "ACMG" "0000987721" "20" "90" "X" "38268214" "38268214" "subst" "0" "04221" "OTC_000042" "g.38268214T>C" "" "" "" "" "Mom is an obligated carrier. A direct molecular study performed on the patient\'s sister revealed that she did not present the pathogenic variant in OTC: NM_000531.6:c.803T>C, p.Met268Thr; Miller 2022:35802134, Miller 2021:34012068, Zhou 2020:32934962" "Germline" "yes" "rs72558449" "0" "" "" "g.38408961T>C" "{CV:97333}" "pathogenic (maternal)" "ACMG" "0000988625" "1" "90" "X" "38268240" "38268240" "subst" "0" "00006" "OTC_000010" "g.38268240C>T" "2/2 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.38408987C>T" "" "pathogenic" "" "0000988647" "0" "90" "X" "" "" "" "" "00006" "CYBB_000005" "g.(?_g.38211736)_(38280703_?)del" "5/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "del ex1-10" "" "Germline" "" "" "0" "" "" "g.(?_38352483)_(38421450_?)del" "" "pathogenic" "" "0000988648" "20" "90" "X" "38226683" "38226683" "subst" "0" "00006" "OTC_000080" "g.38226683G>A" "2/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38367430G>A" "" "pathogenic" "" "0000988649" "20" "90" "X" "38240682" "38240682" "subst" "0" "00006" "OTC_000049" "g.38240682G>A" "2/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "pathogenic" "" "0000988650" "0" "90" "X" "38260593" "38260593" "subst" "0" "00006" "OTC_000291" "g.38260593T>G" "2/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38401340T>G" "" "pathogenic" "" "0000988651" "20" "90" "X" "38268240" "38268240" "subst" "0" "00006" "OTC_000010" "g.38268240C>T" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38408987C>T" "" "pathogenic" "" "0000988652" "0" "90" "X" "38260674" "38260674" "subst" "0" "00006" "OTC_000071" "g.38260674C>T" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38401421C>T" "" "pathogenic" "" "0000988653" "0" "90" "X" "38260682" "38260682" "subst" "5.60777E-6" "00006" "OTC_000443" "g.38260682G>A" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38401429G>A" "" "pathogenic" "" "0000988654" "20" "90" "X" "38260682" "38260682" "subst" "5.60777E-6" "00006" "OTC_000443" "g.38260682G>A" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38401429G>A" "" "pathogenic" "" "0000988655" "20" "90" "X" "38262952" "38262952" "subst" "0" "00006" "OTC_000087" "g.38262952G>A" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "" "" "Germline" "" "" "0" "" "" "g.38403699G>A" "" "pathogenic" "" "0000988656" "0" "90" "X" "" "" "" "" "00006" "OTC_000442" "g.[(?_g.38211736)_(38271253_38280275)dup;(38271253_38280275)_(38280703_?)del]" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "dup ex1-9/del ex10" "" "Germline" "" "" "0" "" "" "g.[(?_38352483)_(38412000_38421022)dup;(38412000_38421022)-(38421450_?)del]" "" "pathogenic" "" "0000988657" "20" "90" "X" "38268028" "38268028" "del" "0" "00006" "OTC_000444" "g.38268028del" "1/24 case chromosomes" "{PMID:Silvera-Ruiz 2019:31426867}" "" "697delG" "" "Germline" "" "" "0" "" "" "g.38408775del" "" "pathogenic" "" "0001006734" "0" "30" "X" "38229135" "38229135" "subst" "0.00156375" "01804" "OTC_000378" "g.38229135G>C" "" "" "" "OTC(NM_000531.5):c.298+5G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006735" "0" "50" "X" "38240679" "38240679" "subst" "0" "01804" "OTC_000408" "g.38240679C>G" "" "" "" "OTC(NM_000531.5):c.383C>G (p.A128G, p.(Ala128Gly)), OTC(NM_000531.6):c.383C>G (p.A128G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006736" "0" "30" "X" "38271121" "38271121" "subst" "0" "01804" "OTC_000445" "g.38271121A>G" "" "" "" "OTC(NM_000531.5):c.874A>G (p.(Lys292Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007284" "21" "70" "X" "38271175" "38271175" "subst" "0" "00006" "OTC_000412" "g.38271175G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.38411922G>A" "" "likely pathogenic" "" "0001047274" "10" "70" "X" "38262594" "38262594" "subst" "0" "00006" "OTC_000446" "g.38262594A>G" "" "{PMID:Soriano-Sexto 2022:36361642}, {DOI:Soriano-Sexto 2022:10.3390/ijms232112850}" "" "" "" "De novo" "" "" "0" "" "" "g.38403341A>G" "" "likely pathogenic (recessive)" "" "0001049160" "21" "90" "X" "38240682" "38240682" "subst" "0" "00006" "OTC_000049" "g.38240682G>A" "" "{PMID:Tong 2018:29581464}" "" "" "" "Germline" "" "" "0" "" "" "g.38381429G>A" "" "pathogenic (recessive)" "" "0001049163" "21" "90" "X" "38268240" "38268240" "subst" "0" "00006" "OTC_000010" "g.38268240C>T" "" "{PMID:Tong 2018:29581464}" "" "" "" "Germline" "" "" "0" "" "" "g.38408987C>T" "" "pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes OTC ## Count = 635 "{{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}}" "0000001864" "00000593" "50" "868" "-182" "868" "-182" "c.868-182dup" "r.(=)" "p.(=)" "" "0000002883" "00000593" "50" "868" "-182" "868" "-182" "c.868-182dup" "r.(=)" "p.(=)" "" "0000014574" "00000593" "50" "77" "437" "77" "437" "c.77+437C>A" "r.(=)" "p.(=)" "" "0000182847" "00000593" "50" "-1" "0" "1066" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_10_" "0000182848" "00000593" "50" "-1" "0" "1066" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_10_" "0000182849" "00000593" "50" "-1" "0" "1066" "0" "c.(?_-1)_(*1_?)del" "r.0" "p.0" "_1_10_" "0000182850" "00000593" "90" "-1" "0" "1005" "1" "c.(?_-1)_(1005+1_1006-1)del" "r.0" "p.0" "_1_9i" "0000182851" "00000593" "90" "-1" "0" "298" "1" "c.(?_-1)_(298+1_299-1)del" "r.0?" "p.0?" "_1_3i" "0000182852" "00000593" "90" "-1" "0" "867" "1" "c.(?_-1)_(867+1_868-1)del" "r.0" "p.0" "_1_8i" "0000182853" "00000593" "90" "78" "-1" "386" "1" "c.(77+1_78-1)_(386+1_387-1)del" "r.?" "p.?" "1i_4i" "0000182854" "00000593" "50" "217" "-54" "217" "-54" "c.217-54dup" "r.(=)" "p.(=)" "2i" "0000182855" "00000593" "90" "299" "-1" "1066" "0" "c.(298+1_299-1)_(*1_?)del" "r.?" "p.?" "3i_10_" "0000182856" "00000593" "50" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182857" "00000593" "50" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182858" "00000593" "50" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182859" "00000593" "50" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182860" "00000593" "50" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182861" "00000593" "10" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182862" "00000593" "10" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182863" "00000593" "10" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182864" "00000593" "10" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182865" "00000593" "10" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182866" "00000593" "10" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182867" "00000593" "10" "-515" "0" "-512" "0" "c.-515_-512del" "r.(?)" "p.(?)" "1" "0000182868" "00000593" "50" "-441" "0" "-441" "0" "c.-441A>G" "r.(?)" "p.(?)" "1" "0000182869" "00000593" "50" "-441" "0" "-441" "0" "c.-441A>G" "r.(?)" "p.(?)" "1" "0000182870" "00000593" "50" "-441" "0" "-441" "0" "c.-441A>G" "r.(?)" "p.(?)" "1" "0000182871" "00000593" "50" "-441" "0" "-441" "0" "c.-441A>G" "r.(?)" "p.(?)" "1" "0000182872" "00000593" "50" "-441" "0" "-441" "0" "c.-441A>G" "r.(?)" "p.(?)" 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"p.(Arg330LysfsTer23)" "9" "0000183303" "00000593" "50" "991" "0" "991" "0" "c.991A>T" "r.(?)" "p.(Lys331X)" "9" "0000183304" "00000593" "50" "994" "0" "994" "0" "c.994T>A" "r.(?)" "p.(Trp332Arg)" "9" "0000183305" "00000593" "50" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Trp332X)" "9" "0000183306" "00000593" "50" "996" "0" "996" "0" "c.996G>A" "r.(?)" "p.(Trp332X)" "9" "0000183307" "00000593" "50" "997" "0" "997" "0" "c.997A>G" "r.(?)" "p.(Thr333Ala)" "9" "0000183308" "00000593" "50" "664" "-1" "1005" "1" "c.664-?_1005+?del" "r.(?)" "p.(?)" "6i" "0000183309" "00000593" "50" "868" "-1" "1005" "1" "c.868-?_1005+?del" "r.(?)" "p.(?)" "8i" "0000183310" "00000593" "50" "868" "-1" "1005" "1" "c.868-?_1005+?del" "r.(?)" "p.(?)" "8i" "0000183311" "00000593" "50" "1005" "0" "1005" "0" "c.1005G>A" "r.(spl?)" "p.(Met335Ile)" "9" "0000183312" "00000593" "50" "1005" "1" "1005" "1" "c.1005+1G>T" "r.spl" "p.(?)" "9i" "0000183313" "00000593" "50" "1005" "2" "1005" "2" "c.1005+2T>C" "r.spl" "p.(?)" "9i" "0000183314" "00000593" "90" "1005" "1091" "1005" "1091" "c.1005+1091C>G" "r.[=, 1005_1006ins1005+905_1005+1090, 1005_1006ins1005+910_1005+1090]" "p.[=, Met335_Ala356insX5, Ala356fsX68]" "9i" "0000183315" "00000593" "90" "298" "8029" "1005" "1740" "c.298+8029_1005+1740del" "r.[299_1005del]" "p.Phe101CysfsX17" "3i" "0000183316" "00000593" "50" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.(?)" "p.(?)" "9i" "0000183317" "00000593" "10" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.(?)" "p.(?)" "9i" "0000183318" "00000593" "10" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.=" "p.=" "9i" "0000183319" "00000593" "10" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.=" "p.=" "9i" "0000183320" "00000593" "10" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.(?)" "p.(?)" "9i" "0000183321" "00000593" "10" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.(?)" "p.(?)" "9i" "0000183322" "00000593" "10" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.(?)" "p.(?)" "9i" "0000183323" "00000593" "10" "1006" "-70" "1006" "-70" "c.1006-70C>T" "r.(?)" "p.(?)" "9i" "0000183324" "00000593" "50" "1006" "-12" "1006" "-12" "c.1006-12G>T" "r.(?)" "p.(?)" "9i" "0000183325" "00000593" "10" "1006" "-12" "1006" "-12" "c.1006-12G>T" "r.=" "p.=" "9i" "0000183326" "00000593" "10" "1006" "-12" "1006" "-12" "c.1006-12G>T" "r.=" "p.=" "9i" "0000183327" "00000593" "50" "1006" "-3" "1006" "-3" "c.1006-3C>G" "r.spl" "p.(?)" "9i" "0000183328" "00000593" "50" "1006" "-1" "1006" "-1" "c.1006-1G>A" "r.spl?" "p.(?)" "9i" "0000183329" "00000593" "50" "1006" "0" "1006" "0" "c.1006G>T" "r.(spl?)" "p.(Ala336Ser)" "10" "0000183330" "00000593" "50" "1009" "0" "1009" "0" "c.1009G>C" "r.(?)" "p.(Val337Leu)" "10" "0000183331" "00000593" "50" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Val339Leu)" "10" "0000183332" "00000593" "50" "1015" "0" "1015" "0" "c.1015G>C" "r.(?)" "p.(Val339Leu)" "10" "0000183333" "00000593" "50" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Ser340Pro)" "10" "0000183335" "00000593" "50" "1028" "0" "1028" "0" "c.1028C>A" "r.(?)" "p.(Thr343Lys)" "10" "0000183336" "00000593" "50" "1033" "0" "1033" "0" "c.1033T>C" "r.(?)" "p.(Tyr345His)" "10" "0000183337" "00000593" "50" "1033" "0" "1033" "0" "c.1033T>G" "r.(?)" "p.(Tyr345Asp)" "10" "0000183338" "00000593" "50" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Tyr345Cys)" "10" "0000183339" "00000593" "50" "1039" "0" "1039" "0" "c.1039C>A" "r.(?)" "p.(Pro347Thr)" "10" "0000183340" "00000593" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Gln348X)" "10" "0000183341" "00000593" "50" "1061" "0" "1061" "0" "c.1061T>G" "r.(?)" "p.(Phe354Cys)" "10" "0000247723" "00000593" "10" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000247725" "00000593" "10" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000253375" "00000593" "10" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000253382" "00000593" "10" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000256559" "00000593" "50" "130" "0" "130" "0" "c.130A>G" "r.(?)" "p.(Thr44Ala)" "" "0000293406" "00000593" "30" "299" "-8" "299" "-8" "c.299-8del" "r.(=)" "p.(=)" "" "0000293407" "00000593" "10" "299" "-8" "299" "-8" "c.299-8T>A" "r.(=)" "p.(=)" "" "0000293408" "00000593" "10" "621" "0" "621" "0" "c.621C>T" "r.(?)" "p.(Ser207=)" "" "0000293409" "00000593" "10" "718" "-14" "718" "-14" "c.718-14T>C" "r.(=)" "p.(=)" "" "0000296692" "00000593" "70" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Ter)" "" "0000304839" "00000593" "10" "299" "-34" "299" "-34" "c.299-34dup" "r.(=)" "p.(=)" "" "0000304840" "00000593" "10" "299" "-8" "299" "-8" "c.299-8del" "r.(=)" "p.(=)" "" "0000304841" "00000593" "10" "299" "-8" "299" "-8" "c.299-8T>A" "r.(=)" "p.(=)" "" "0000304842" "00000593" "50" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Ala128Gly)" "" "0000304843" "00000593" "90" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Arg141Gln)" "" "0000304844" "00000593" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000304845" "00000593" "30" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Gly28Glu)" "" "0000337931" "00000593" "30" "298" "5" "298" "5" "c.298+5G>C" "r.spl?" "p.?" "" "0000405793" "00000593" "70" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Glu310Lys)" "" "0000438968" "00000593" "90" "540" "265" "540" "265" "c.540+265G>A" "r.spl" "p.(=)" "" "0000575852" "00000593" "30" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Arg26Trp)" "" "0000575853" "00000593" "70" "174" "0" "174" "0" "c.174G>A" "r.(?)" "p.(Trp58Ter)" "" "0000575854" "00000593" "30" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Ala135Thr)" "" "0000575855" "00000593" "30" "429" "0" "429" "0" "c.429T>C" "r.(?)" "p.(Tyr143=)" "" "0000575856" "00000593" "30" "498" "0" "498" "0" "c.498G>T" "r.(?)" "p.(Leu166Phe)" "" "0000575857" "00000593" "70" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000575858" "00000593" "10" "751" "0" "751" "0" "c.751T>C" "r.(?)" "p.(Leu251=)" "" "0000575860" "00000593" "30" "827" "0" "827" "0" "c.827A>C" "r.(?)" "p.(Lys276Thr)" "" "0000575861" "00000593" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Ala280Thr)" "" "0000575862" "00000593" "30" "945" "0" "945" "0" "c.945C>G" "r.(?)" "p.(Val315=)" "" "0000578166" "00000593" "90" "867" "1" "867" "1" "c.867+1G>T" "r.spl" "p.?" "" "0000619528" "00000593" "50" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Ala137Thr)" "" "0000652914" "00000593" "90" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Arg26Gln)" "" "0000652915" "00000593" "10" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000653090" "00000593" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000653091" "00000593" "30" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000670120" "00000593" "10" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000670150" "00000593" "30" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000673562" "00000593" "70" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000673586" "00000593" "70" "540" "0" "540" "0" "c.540G>C" "r.(?)" "p.(Gln180His)" "" "0000673604" "00000593" "70" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000673951" "00000593" "90" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Met268Thr)" "" "0000682417" "00000593" "30" "498" "0" "498" "0" "c.498G>T" "r.(?)" "p.(Leu166Phe)" "" "0000682418" "00000593" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "0000686171" "00000593" "90" "1061" "0" "1061" "0" "c.1061T>G" "r.(?)" "p.(Phe354Cys)" "" "0000693578" "00000593" "30" "270" "0" "270" "0" "c.270T>C" "r.(?)" "p.(Ser90=)" "" "0000693579" "00000593" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Trp)" "" "0000728863" "00000593" "30" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Arg26Trp)" "" "0000728864" "00000593" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Tyr55Cys)" "" "0000728865" "00000593" "30" "366" "0" "366" "0" "c.366A>G" "r.(?)" "p.(Glu122=)" "" "0000790976" "00000593" "70" "299" "-20" "540" "20" "c.299-20_540+20del" "r.?" "p.(Phe101Thrfs*3)" "3i_5i" "0000810351" "00000593" "10" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Lys46Arg)" "" "0000810352" "00000593" "10" "299" "-8" "299" "-8" "c.299-8T>A" "r.(=)" "p.(=)" "" "0000810353" "00000593" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000810354" "00000593" "30" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000810355" "00000593" "70" "944" "0" "944" "0" "c.944T>C" "r.(?)" "p.(Val315Ala)" "" "0000810356" "00000593" "30" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320Gln)" "" "0000825071" "00000593" "70" "540" "265" "540" "265" "c.540+265G>A" "r.spl" "p.(?)" "" "0000856588" "00000593" "70" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ala209Val)" "" "0000867348" "00000593" "30" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Pro225=)" "" "0000896201" "00000593" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Met)" "" "0000896202" "00000593" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000915709" "00000593" "30" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Gln270Arg)" "" "0000918597" "00000593" "90" "-2802714" "0" "619785" "0" "c.-2802714_*618720del" "r.0" "p.0" "_1_10_" "0000931411" "00000593" "30" "429" "0" "429" "0" "c.429T>C" "r.(?)" "p.(Tyr143=)" "" "0000951750" "00000593" "50" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Ala128Gly)" "" "0000984661" "00000593" "30" "299" "-8" "299" "-8" "c.299-8del" "r.(=)" "p.(=)" "" "0000984662" "00000593" "50" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Leu103Val)" "" "0000985866" "00000593" "90" "1028" "0" "1028" "0" "c.1028C>G" "r.(?)" "p.(Thr343Arg)" "" "0000985867" "00000593" "90" "663" "2" "663" "2" "c.663+2T>C" "r.spl" "p.?" "" "0000985868" "00000593" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Met)" "" "0000985869" "00000593" "90" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Ter)" "" "0000985870" "00000593" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Met)" "" "0000985871" "00000593" "90" "914" "0" "914" "0" "c.914C>G" "r.(?)" "p.(Pro305Arg)" "" "0000985872" "00000593" "90" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(His202Tyr)" "" "0000985873" "00000593" "90" "287" "0" "287" "0" "c.287C>T" "r.(?)" "p.(Ser96Phe)" "" "0000985874" "00000593" "90" "817" "0" "819" "0" "c.817_819del" "r.(?)" "p.(Glu273del)" "" "0000985875" "00000593" "90" "386" "1" "386" "1" "c.386+1G>A" "r.spl" "p.?" "" "0000985876" "00000593" "90" "365" "0" "365" "0" "c.365A>G" "r.(?)" "p.(Glu122Gly)" "" "0000985877" "00000593" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000985878" "00000593" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000985879" "00000593" "90" "264" "0" "264" "0" "c.264A>T" "r.(?)" "p.(Lys88Asn)" "" "0000985880" "00000593" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23Ter)" "" "0000985881" "00000593" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0000985882" "00000593" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0000985883" "00000593" "90" "205" "0" "205" "0" "c.205C>T" "r.(?)" "p.(Gln69Ter)" "" "0000985884" "00000593" "90" "" "0" "" "0" "c.-214_*368{0}" "r.0" "p.0" "_1_10_" "0000985885" "00000593" "90" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Gly195Arg)" "" "0000985886" "00000593" "90" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Gly195Arg)" "" "0000985887" "00000593" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0000985888" "00000593" "90" "386" "5" "386" "5" "c.386+5G>A" "r.spl" "p.?" "" "0000985889" "00000593" "90" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Thr93Ile)" "" "0000985890" "00000593" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0000985891" "00000593" "90" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Ala209Val)" "" "0000985892" "00000593" "90" "476" "0" "476" "0" "c.476T>C" "r.(?)" "p.(Ile159Thr)" "" "0000985893" "00000593" "90" "514" "0" "514" "0" "c.514A>T" "r.(?)" "p.(Ile172Phe)" "" "0000985894" "00000593" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Trp)" "" "0000985895" "00000593" "90" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Leu191Phe)" "" "0000985896" "00000593" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000985897" "00000593" "90" "263" "0" "263" "0" "c.263A>C" "r.(?)" "p.(Lys88Thr)" "" "0000985898" "00000593" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000985899" "00000593" "90" "298" "1" "298" "1" "c.298+1G>C" "r.spl" "p.?" "" "0000985900" "00000593" "90" "1018" "0" "1018" "0" "c.1018T>C" "r.(?)" "p.(Ser340Pro)" "" "0000985901" "00000593" "90" "1022" "0" "1022" "0" "c.1022T>C" "r.(?)" "p.(Leu341Pro)" "" "0000985902" "00000593" "90" "482" "0" "482" "0" "c.482A>G" "p.Asn161Asp" "p.(Asn161Ser)" "" "0000985903" "00000593" "90" "144" "0" "144" "0" "c.144del" "r.(?)" "p.(Phe48LeufsTer16)" "" "0000985904" "00000593" "90" "254" "0" "254" "0" "c.254T>G" "r.(?)" "p.(Ile85Ser)" "" "0000985905" "00000593" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000985906" "00000593" "90" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40His)" "" "0000985907" "00000593" "90" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Glu52Lys)" "" "0000985908" "00000593" "90" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Gly195Arg)" "" "0000985909" "00000593" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000985910" "00000593" "90" "932" "0" "932" "0" "c.932T>A" "r.(?)" "p.(Val311Glu)" "" "0000985911" "00000593" "90" "605" "0" "605" "0" "c.605A>T" "r.(?)" "p.(His202Leu)" "" "0000985912" "00000593" "90" "386" "2" "386" "2" "c.386+2T>C" "r.spl" "p.?" "" "0000985913" "00000593" "90" "630" "0" "630" "0" "c.630del" "r.(?)" "p.(Lys210AsnfsTer20)" "" "0000985914" "00000593" "90" "" "0" "" "0" "c.-214_*368{0}" "r.0" "p.0" "_1_10_" "0000985915" "00000593" "90" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Ter)" "" "0000985916" "00000593" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0000985917" "00000593" "90" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Gly71Ter)" "" "0000987573" "00000593" "90" "583" "0" "583" "0" "c.583G>A" "r.(?)" "p.(Gly195Arg)" "6" "0000987721" "00000593" "90" "803" "0" "803" "0" "c.803T>C" "r.(?)" "p.(Met268Thr)" "8" "0000988625" "00000593" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Trp)" "" "0000988647" "00000593" "90" "" "0" "" "0" "c.-214_*368{0}" "r.0" "p.0" "_1_10_" "0000988648" "00000593" "90" "216" "1" "216" "1" "c.216+1G>A" "r.spl" "p.?" "" "0000988649" "00000593" "90" "386" "0" "386" "0" "c.386G>A" "r.spl" "p.(Arg129His)" "" "0000988650" "00000593" "90" "452" "0" "452" "0" "c.452T>G" "r.(?)" "p.(Leu151Arg)" "" "0000988651" "00000593" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Trp)" "" "0000988652" "00000593" "90" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Thr178Met)" "" "0000988653" "00000593" "90" "540" "1" "540" "1" "c.540+1G>A" "r.spl" "p.?" "" "0000988654" "00000593" "90" "540" "1" "540" "1" "c.540+1G>A" "r.spl" "p.?" "" "0000988655" "00000593" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Ala208Thr)" "" "0000988656" "00000593" "90" "" "0" "" "0" "c.[-214_(1005+1_1006-1){2};(1005+1_1006-1)*368{0}]" "r.?" "p.?" "_1_10_" "0000988657" "00000593" "90" "697" "0" "697" "0" "c.697del" "r.(?)" "p.(Ala233GlnfsTer14)" "" "0001006734" "00000593" "30" "298" "5" "298" "5" "c.298+5G>C" "r.spl?" "p.?" "" "0001006735" "00000593" "50" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Ala128Gly)" "" "0001006736" "00000593" "30" "874" "0" "874" "0" "c.874A>G" "r.(?)" "p.(Lys292Glu)" "" "0001007284" "00000593" "70" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Glu310Lys)" "9" "0001047274" "00000593" "70" "541" "-277" "541" "-277" "c.541-277A>G" "r.540_541ins541-338_541-282" "p.?" "5i" "0001049160" "00000593" "90" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129His)" "" "0001049163" "00000593" "90" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(Arg277Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 581 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001864" "0000000209" "0000002883" "0000000210" "0000014574" "0000113567" "0000182856" "0000113567" "0000182868" "0000113567" "0000182883" "0000113567" "0000183123" "0000113568" "0000182857" "0000113568" "0000182869" "0000113568" "0000182884" "0000113568" "0000183124" "0000113569" "0000182858" "0000113569" "0000182870" "0000113569" "0000182885" "0000113569" "0000183316" "0000113570" "0000182859" "0000113570" "0000182871" "0000113570" "0000183125" "0000113571" "0000182860" "0000113571" "0000182872" "0000113571" "0000182886" "0000113571" "0000183126" "0000113572" "0000182861" "0000113572" "0000182873" "0000113572" "0000183127" "0000113573" "0000182862" "0000113573" "0000182874" "0000113573" "0000183128" "0000113574" "0000182863" "0000113574" "0000182875" "0000113575" "0000182864" "0000113575" "0000182876" "0000113576" "0000182865" 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