### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TAZ) # 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}}" "TAZ" "tafazzin" "X" "q28" "no" "NG_009634.1" "UD_132118909682" "" "http://www.LOVD.nl/TAZ" "Barth Syndrome Foundation " "1" "11577" "6901" "300394" "1" "1" "1" "1" "The variants collected by the Barth Syndrome Foundation were used to initiate this database" "" "g" "http://databases.lovd.nl/shared/refseq/TAZ_codingDNA.html" "1" "" "The variants collected by the Barth Syndrome Foundation were used to initiate this database" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2015-01-20 16:54:22" "00000" "2025-05-05 21:14:00" ## 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}}" "00000946" "TAZ" "transcript variant 1" "002" "NM_000116.3" "" "NP_000107.1" "" "" "" "-304" "1601" "879" "153639877" "153650065" "00000" "2012-09-13 13:00:59" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "01086" "BTHS;MGCA2" "Barth syndrome" "XLR" "302060" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-02-04 18:39:05" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TAZ" "01086" ## Individuals ## Do not remove or alter this header ## ## Count = 334 "{{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" "" "" "" "" "00016143" "" "" "" "1" "" "00668" "{PMID:Vrijenhoek 2015:25626705}, {DOI:Vrijenhoek 2015:10.1038/ejhg.2014.279}" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00029045" "" "" "" "1" "" "00006" "{PMID:Cantlay 1999:10484795}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029046" "" "" "" "1" "" "00006" "{PMID:Steward 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029047" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029048" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029049" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029050" "" "" "" "1" "" "00006" "{PMID:Steward 2011:{DB:BTHS}}, {PMID:Kirwin 2014:24342716}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029051" "" "" "" "1" "" "00006" "{DB:BTHS} - BZapała (Krakow, Poland)" "" "M" "" "Poland" "" "0" "Barth Syndrome Foundation" "" "" "" "00029052" "" "" "" "1" "" "00006" "{PMID:Mazurova 2013:24093814}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029053" "" "" "" "3" "" "00006" "{PMID:Chang 2010:20303308}, {PMID:Momoi 2012:21987083}" "Japan" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029054" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029055" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Schlame 2003:14662265}, {PMID:Kelley 1991:1719174}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029056" "" "" "" "1" "" "00006" "{PMID:Mazurova 2013:24093814}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029057" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029058" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029059" "" "" "" "1" "" "00006" "{PMID:Ichida 2001:11238270}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029060" "" "" "" "1" "" "00006" "{PMID:Valianpour 2002:12410207}, {PMID:Kuijpers 2004:14764526}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029061" "" "" "" "1" "" "00006" "{PMID:Bowron 2014:25112388}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029062" "" "" "" "1" "" "00006" "{PMID:Steward 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029063" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Schlame 2003:14662265}, {PMID:Kirwin 2014:24342716}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029064" "" "" "" "1" "" "00006" "{PMID:Ichida 2001:11238270}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029065" "" "" "" "1" "" "00006" "{PMID:Bachou 2009:19261493}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029066" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}, {PMID:Vreeken 2000:11118295}, {PMID:Schlame 2003:14662265}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029067" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2005:15793838}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029068" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, affected son/carrier mother" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029069" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029070" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029071" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029072" "" "" "" "1" "" "00006" "{PMID:Bione 1996:8630491}, {PMID:Vreeken 2000:11118295}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029073" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}, {PMID:Valianpour 2002:12410207}, {PMID:Kuijpers 2004:14764526}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029074" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Yen 2008:17846786}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029075" "" "" "" "1" "" "00006" "{PMID:Xing 2006:16427346}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029076" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029077" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029078" "" "" "" "1" "" "00006" "{PMID:Kuijpers 2004:14764526}, {PMID:Bowron 2014:25112388}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029079" "" "" "" "1" "" "00006" "{PMID:Kuijpers 2004:14764526}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029080" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}, {PMID:Kirwin 2014:24342716}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029081" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029082" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}, {PMID:Steward 2010:20812380}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029083" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029084" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029085" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029086" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029087" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029088" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029089" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029090" "" "" "" "1" "" "00006" "{PMID:Kim 2013:23678274}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029091" "" "" "" "1" "" "00006" "{PMID:Schlame 2003:14662265},{ PMID:Gonzalez 2005:15793838}, {PMID:Kirwin 2014:24342716}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029092" "" "" "" "1" "" "00006" "Miller 2005 (ACC2005 Poster1142-245)" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029093" "" "" "" "1" "" "00006" "{PMID:Kirwin 2014:24342716}" "BTHS" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029094" "" "" "" "1" "" "00006" "{PMID:Kirwin 2014:24342716}" "BTHS" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029095" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029096" "" "" "" "1" "" "00006" "{PMID:Kirwin 2014:24342716}" "BTHS" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029097" "" "" "" "1" "" "00006" "{PMID:Bione 1996:8630491}, {PMID:D\'Adamo 1997:9382096}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029098" "" "" "" "1" "" "00006" "{PMID:Bione 1996:8630491}, {PMID:Vreeken 2000:11118295}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029099" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029100" "" "" "" "1" "" "00006" "{PMID:van Werkhoven 2006:16873891}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029101" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK), {PMID:Steward 2011:{DB:BTHS}}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029102" "" "" "" "1" "" "00006" "{PMID:Valianpour 2002:12410207}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029103" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2005:15793838}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029104" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029105" "" "" "" "1" "" "00006" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029106" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Gonzalez 2005:15793838}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029107" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029108" "" "" "" "1" "" "00006" "{PMID:Steward 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029109" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029110" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Kirwin 2014:24342716}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029111" "" "" "" "1" "" "00006" "{PMID:Sabater-Molina 2013:22999963}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029112" "" "" "" "1" "" "00006" "{PMID:Mazurova 2013:24093814}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029113" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029114" "" "" "" "1" "" "00006" "{PMID:Steward 2010:20812380}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029115" "" "" "" "1" "" "00006" "{PMID:Sakamoto 2002:12032589}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029116" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, affected son/carrier mother" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029117" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029118" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Brady 2006:16548007}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029119" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029120" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029121" "" "" "" "1" "" "00006" "{PMID:Claypool 2011:21300850}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029122" "" "" "" "1" "" "00006" "{PMID:Claypool 2011:21300850}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029123" "" "" "" "1" "" "00006" "{DB:BTHS} MvSlegtenhorst (Rotterdam, Netherlands)" "" "M" "" "Netherlands" "" "0" "Barth Syndrome Foundation" "" "" "" "00029124" "" "" "" "1" "" "00006" "{DB:BTHS} MvSlegtenhorst (Rotterdam, Netherlands)" "" "M" "" "Netherlands" "" "0" "Barth Syndrome Foundation" "" "" "" "00029125" "" "" "" "1" "" "00006" "{DB:BTHS} BPerez (Madrid, Spain)" "" "M" "" "Spain" "" "0" "Barth Syndrome Foundation" "" "" "" "00029126" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, affected son" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029127" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029128" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029129" "" "" "" "1" "" "00006" "{PMID:Ferri 2013:23409742}" "2-generation family, affected son and carrier mother" "M" "" "Italy" "" "0" "Barth Syndrome Foundation" "" "" "" "00029130" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029131" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029132" "" "" "" "1" "" "00006" "{PMID:Sakamoto 2001:11735032}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029133" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029134" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029135" "" "" "" "1" "" "00006" "{PMID:Vreeken 2000:11118295}" "" "M" "" "Netherlands" "" "0" "Barth Syndrome Foundation" "" "" "" "00029136" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029137" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029138" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029139" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029140" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029141" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029142" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029143" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029144" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029145" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029146" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029147" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029148" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029149" "" "" "" "1" "" "00006" "{PMID:Ichida 2001:11238270}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029150" "" "" "" "1" "" "00006" "{PMID:Schlame 2003:14662265}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029151" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029152" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "4-generation family, affected son/carrier mother" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029153" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029154" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029155" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029156" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029157" "" "" "" "1" "" "00006" "{PMID:van Werkhoven 2006:16873891}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029158" "" "" "" "1" "" "00006" "{PMID:Ferri 2013:23409742}" "2-generation family, 2 affected males and carrier mother" "M" "" "Italy" "" "0" "Barth Syndrome Foundation" "" "" "" "00029159" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029160" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029161" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Schlame 2003:14662265}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029162" "" "" "" "1" "" "00006" "{PMID:Steward 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029163" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, affected son" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029164" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029165" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029166" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029167" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029168" "" "" "" "1" "" "00006" "Taylor 2011 (Cardiogenetics 1:9-12)" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029169" "" "" "" "1" "" "00006" "{PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}, {PMID:Kirwin 2014:24342716}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029170" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029171" "" "" "" "1" "" "00006" "Bijarnia-Mahay 2012 (J Inherit Metab Dis Suppl)" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029172" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029173" "" "" "" "1" "" "00006" "{DB:BTHS} - EPronicka/JTrubicka (Warsaw, Poland)" "" "M" "" "Poland" "" "0" "Barth Syndrome Foundation" "" "" "" "00029174" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029175" "" "" "" "1" "" "00006" "{PMID:Vesel 2003:12529714}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029176" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029177" "" "" "" "1" "" "00006" "{PMID:Doanti 2006:16906470}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029178" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029179" "" "" "" "1" "" "00006" "{PMID:Cantlay 1999:10484795}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029180" "" "" "" "1" "" "00006" "{PMID:Fan 2013:23606313}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029181" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK), {PMID:Bowron 2014:25112388}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029182" "" "" "" "1" "" "00006" "{DB:BTHS} Villard 2010" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029183" "" "" "" "1" "" "00006" "{PMID:BIssler 2002:11896212}" "4-generation family, 6 affected males, >6 carrier females" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029184" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029185" "" "" "" "1" "" "00006" "{PMID:Bione 1996:8630491}, {PMID:D\'Adamo 1997:9382096}," "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029186" "" "" "" "1" "" "00006" "{PMID:van Werkhoven 2006:16873891}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029187" "" "" "" "1" "" "00006" "{DB:BTHS} - EPronicka/JTrubicka (Warsaw, Poland)" "" "M" "" "Poland" "" "0" "Barth Syndrome Foundation" "" "" "" "00029188" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029189" "" "" "" "1" "" "00006" "{PMID:Ronvelia 2012:23031367}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029190" "" "" "" "1" "" "00006" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029191" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029192" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029193" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK), {PMID:Steward 2010:20812380}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029194" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029195" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029196" "" "" "" "1" "" "00006" "{PMID:Mazurova 2013:24093814}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029197" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029198" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029199" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029200" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029201" "" "" "" "1" "" "00006" "{PMID:Cantlay 1999:10484795}, {PMID:Steward 2010:20812380}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029202" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029203" "" "" "" "1" "" "00006" "{PMID:Bleyl 1997:9382097}, {PMID:Kirwin 2014:24342716}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029204" "" "" "" "1" "" "00006" "{PMID:Steward 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029205" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA), {PMID:Kirwin 2014:24342716}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029206" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029207" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029208" "" "" "" "1" "" "00006" "{PMID:Doanti 2006:16906470}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029209" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029210" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, affected son/carrier mother" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029211" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029212" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "4-generation family, affected son/carrier mother and grandmother" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029213" "" "" "" "1" "" "00006" "{PMID:Kuijpers 2004:14764526}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029214" "" "" "" "1" "" "00006" "{PMID:Valianpour 2002:12410207}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029215" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Gonzalvez 2013:23523468}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029216" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029217" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029218" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029219" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029220" "" "" "" "1" "" "00006" "{PMID:Marziliano 2007:17394203}, {PMID:Aljishi 2010:20981509}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029221" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalvez 2013:23523468}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029222" "" "" "" "1" "" "00006" "{PMID:Steward 2010:20812380}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029223" "" "" "" "1" "" "00006" "{PMID:Cantlay 1999:10484795}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029224" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029225" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}, {PMID:van Werkhoven 2006:16873891}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029226" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Schlame 2003:14662265}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029227" "" "" "" "1" "" "00006" "{PMID:Ferri 2013:23409742}" "2-generation family, affected son and carrier mother" "M" "" "Italy" "" "0" "Barth Syndrome Foundation" "" "" "" "00029228" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029229" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029230" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029231" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029232" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}, {PMID:Kuijpers 2004:14764526}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029233" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029234" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029235" "" "" "" "1" "" "00006" "{DB:BTHS} MvSlegtenhorst (Rotterdam, Netherlands)" "" "M" "" "Netherlands" "" "0" "Barth Syndrome Foundation" "" "" "" "00029236" "" "" "" "1" "" "00006" "{PMID:Takeda 2011:21932011}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029237" "" "" "" "1" "" "00006" "{PMID:Karkucinska-Wieckowska 2013:23361305}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029238" "" "" "" "1" "" "00006" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029239" "" "" "" "3" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, 3 affecteds/carrier mother" "M" "" "Tunisia" "" "0" "Barth Syndrome Foundation" "" "" "" "00029240" "" "" "" "1" "" "00006" "{PMID:Folsi 2014:24887148}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029241" "" "" "" "1" "" "00006" "{PMID:Chen 2002:12468278}, {PMID:Xing 2006:16427346}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029242" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029243" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029244" "" "" "" "2" "" "00006" "{PMID:Rigaud 2013:23656970}" "2-generation family, 2 affected brothers" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029245" "" "" "" "1" "" "00006" "{PMID:Ferri 2013:23409742}" "2-generation family, affected son and carrier mother" "M" "" "Italy" "" "0" "Barth Syndrome Foundation" "" "" "" "00029246" "" "" "" "1" "" "00006" "{DB:BTHS} SMeldau (South Africa)" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029247" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029248" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029249" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029250" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029251" "" "" "" "1" "" "00006" "{PMID:Schlame 2003:14662265}, {PMID:Kirwin 2014:24342716}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029252" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029253" "" "" "" "1" "" "00006" "{PMID:van Werkhoven 2006:16873891}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029254" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029255" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, 2 affected nephews/carrier sister mothers" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029256" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Kirwin 2014:24342716}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029257" "" "" "" "1" "" "00006" "{DB:BTHS} JChristodoulou (Westmead, Australia)" "" "M" "" "Australia" "" "0" "Barth Syndrome Foundation" "" "" "" "00029258" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029259" "" "" "" "1" "" "00006" "{PMID:D\'Adamo 1997:9382096}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029260" "" "" "" "1" "" "00006" "{PMID:BIssler 2002:11896212}" "5-generation family, 2 affected males, >7 carrier females" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029261" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Schlame 2003:14662265}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029262" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029263" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029264" "" "" "" "1" "" "00006" "{PMID:Man 2013:23345479}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029265" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029266" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029267" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029268" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029269" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Kirwin 2014:24342716}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029270" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029271" "" "" "" "1" "" "00006" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029272" "" "" "" "1" "" "00006" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029273" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029274" "" "" "" "1" "" "00006" "{PMID:Ichida 2001:11238270}, {PMID:Kenton 2004:15172004}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029275" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029276" "" "" "" "1" "" "00006" "{DB:BTHS} Bowles (Houston, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029277" "" "" "" "2" "" "00006" "{PMID:Rigaud 2013:23656970}" "family, 2 affecteds" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029278" "" "" "" "1" "" "00006" "{PMID:Tikhomirov 2008:HGOL}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029279" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029280" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029281" "" "" "" "1" "" "00006" "{DB:BTHS} Honeychurch/Williams (Bristol, UK), {PMID:Steward 2010:20812380}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "Barth Syndrome Foundation" "" "" "" "00029282" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Kirwin 2007:17241629}, {PMID:Kirwin 2014:24342716}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029283" "" "" "" "1" "" "00006" "{PMID:Sweeney 2008:19037987}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029284" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029285" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029286" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029287" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029288" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029289" "" "" "" "1" "" "00006" "{PMID:Singh 2009:19396829}" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029290" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029291" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029292" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029293" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, affected son/carrier mother" "F" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029294" "" "" "" "1" "" "00006" "{DB:BTHS} - reported by family" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029295" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029296" "" "" "" "1" "" "00006" "{PMID:Ferri 2013:23409742}" "2-generation family, 3 affected males and carrier mother" "M" "" "Italy" "" "0" "Barth Syndrome Foundation" "" "" "" "00029297" "" "" "" "1" "" "00006" "{PMID:Ferri 2013:23409742}" "2-generation family, 2 affected males and carrier mother" "M" "" "Italy" "" "0" "Barth Syndrome Foundation" "" "" "" "00029298" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, affected son" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029299" "" "" "" "1" "" "00006" "{PMID:Rigaud 2013:23656970}" "2-generation family, affected son" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029300" "" "" "" "2" "" "00006" "{PMID:Rigaud 2013:23656970}" "3-generation family, 2 affecteds/carrier mother and sister" "M" "" "France" "" "0" "Barth Syndrome Foundation" "" "" "" "00029301" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029302" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029303" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029304" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029305" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029306" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029307" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029308" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029309" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029310" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029311" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029312" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029313" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029314" "" "" "" "1" "" "00006" "{DB:BTHS} MGZ (Munchen, Germany)" "" "M" "" "Germany" "" "0" "Barth Syndrome Foundation" "" "" "" "00029315" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029316" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029317" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2005:15793838}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029318" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029319" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029320" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029321" "" "" "" "1" "" "00006" "Taylor 2011 (Cardiogenetics 1:9-12)" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029322" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029323" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029324" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029325" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029326" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029327" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029328" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029329" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029330" "" "" "" "1" "" "00006" "{PMID:Xu 2009:19700766}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029331" "" "" "" "1" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "African, sub-Saharan" "" "00029332" "" "" "" "2" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "African, sub-Saharan" "" "00029333" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "African, sub-Saharan" "" "00029334" "" "" "" "1" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "African, sub-Saharan" "" "00029335" "" "" "" "1" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "African, sub-Saharan" "" "00029336" "" "" "" "1" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "African, sub-Saharan" "" "00029337" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029338" "" "" "" "1" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029339" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029340" "" "" "" "1" "" "00006" "" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029341" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029342" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029343" "" "" "" "1" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029344" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029345" "" "" "" "1" "" "00006" "{DB:BTHS} Harvard Partners (USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029346" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029347" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029348" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029349" "" "" "" "1" "" "00006" "{PMID:Saunders 2005:16020776}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029350" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029351" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029352" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029353" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029354" "" "" "" "1" "" "00006" "Exome Variant Server" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029355" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029356" "" "" "" "1" "" "00006" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "M" "" "United States" "" "0" "Barth Syndrome Foundation" "" "" "" "00029357" "" "" "" "1" "" "00006" "{PMID:Johnston 1997:9345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}," "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029358" "" "" "" "1" "" "00006" "{PMID:Cortez-Dias 2009:19438153}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00029359" "" "" "" "1" "" "00006" "{PMID:Valianpour 2002:12410207}" "" "M" "" "" "" "0" "Barth Syndrome Foundation" "" "" "" "00037222" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037223" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00043790" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "F" "?" "Denmark" "00y00m" "0" "" "" "Denmark" "" "00050693" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00163896" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "M" "" "Netherlands" "" "0" "yes" "implantable cardiac defibrillator" "white" "" "00183135" "" "" "" "1" "" "00006" "{PMID:Hu 2016:25644381}" "family, 1 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamMRX75/D13" "00274162" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat28" "00294983" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294984" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317889" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317890" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317891" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00362772" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362773" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00427974" "" "" "" "2" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 2 affected brothers, mother germline mosaicism" "M" "" "Australia" "" "0" "" "" "" "A022" "00431234" "" "" "" "1" "" "00006" "{PMID:Mertes 2021:33483494}, {PMID:Yepez 2022:35379322}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "74116;R58859" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 334 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016143" "00351" "00029045" "01086" "00029046" "01086" "00029047" "01086" "00029048" "01086" "00029049" "01086" "00029050" "01086" "00029051" "01086" "00029052" "01086" "00029053" "01086" "00029054" "01086" "00029055" "01086" "00029056" "01086" "00029057" "01086" "00029058" "01086" "00029059" "01086" "00029060" "01086" "00029061" "01086" "00029062" "01086" "00029063" "01086" "00029064" "01086" "00029065" "01086" "00029066" "01086" "00029067" "01086" "00029068" "01086" "00029069" "01086" "00029070" "01086" "00029071" "01086" "00029072" "01086" "00029073" "01086" "00029074" "01086" "00029075" "04173" "00029076" "01086" "00029077" "01086" "00029078" "01086" "00029079" "01086" "00029080" "01086" "00029081" "01086" "00029082" "01086" "00029083" "01086" "00029084" "01086" "00029085" "01086" "00029086" "01086" "00029087" 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"01086" "00029298" "01086" "00029299" "01086" "00029300" "01086" "00029301" "01086" "00029302" "01086" "00029303" "01086" "00029304" "01086" "00029305" "01086" "00029306" "01086" "00029307" "01086" "00029308" "01086" "00029309" "01086" "00029310" "00000" "00029311" "00000" "00029312" "00000" "00029313" "00000" "00029314" "00000" "00029315" "00000" "00029316" "00000" "00029317" "00000" "00029318" "00000" "00029319" "00000" "00029320" "00000" "00029321" "00000" "00029322" "00000" "00029323" "00000" "00029324" "01086" "00029325" "00000" "00029326" "00000" "00029327" "00000" "00029328" "00000" "00029329" "00000" "00029330" "04173" "00029331" "00000" "00029332" "00000" "00029333" "00000" "00029334" "00000" "00029335" "00000" "00029336" "00000" "00029337" "00000" "00029338" "00000" "00029339" "00000" "00029340" "00000" "00029341" "00000" "00029342" "00000" "00029343" "00000" "00029344" "00000" "00029345" "00000" "00029346" "00000" "00029347" "00000" "00029348" "00000" "00029349" "00000" "00029350" "00000" "00029351" "00000" "00029352" "00000" "00029353" "00000" "00029354" "00000" "00029355" "00000" "00029356" "00000" "00029357" "01086" "00029358" "04173" "00029359" "01086" "00037222" "00198" "00037223" "01926" "00043790" "02087" "00050693" "00198" "00163896" "00352" "00183135" "00187" "00274162" "00198" "00294983" "00198" "00294984" "00198" "00317889" "04172" "00317890" "04172" "00317891" "04172" "00362772" "00198" "00362773" "00198" "00427974" "00198" "00431234" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 00198, 00351, 00352, 01086, 01157, 01926, 02087, 04172, 04173 ## Count = 332 "{{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}}" "0000014928" "00351" "00016143" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025079" "01086" "00029045" "00006" "Isolated (sporadic)" "" "see paper; dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025080" "01086" "00029046" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025081" "01086" "00029047" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025082" "01086" "00029048" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025083" "01086" "00029049" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025084" "01086" "00029050" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025085" "01086" "00029051" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025086" "01086" "00029052" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025087" "01086" "00029053" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025088" "01086" "00029054" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025089" "01086" "00029055" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025090" "01086" "00029056" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025091" "01086" "00029057" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025092" "01086" "00029058" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025093" "01086" "00029059" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025094" "01086" "00029060" "00006" "Unknown" "" "see paper; dilated cardiomyopathy, ventricular noncompaction, mild proximal muscle weakness, neutropenia, growth -2SD" "" "" "" "" "" "" "" "" "" "" "" "" "0000025095" "01086" "00029061" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025096" "01086" "00029062" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025097" "01086" "00029063" "00006" "Familial" "" "see paper; dilated cardiomyopathy, neutropenia, growth retardation, skeletal muscle weakness, 3-methylglutaconic aciduria unknown" "" "" "" "" "" "" "" "" "" "" "" "" "0000025098" "01086" "00029064" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025099" "01086" "00029065" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025100" "01086" "00029066" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025101" "01086" "00029067" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025102" "01086" "00029068" "00006" "Familial, X-linked recessive" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025103" "01086" "00029069" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025104" "01086" "00029070" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025105" "01086" "00029071" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025106" "01086" "00029072" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025107" "01086" "00029073" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025108" "01086" "00029074" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025109" "04173" "00029075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025110" "01086" "00029076" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025111" "01086" "00029077" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025112" "01086" "00029078" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025113" "01086" "00029079" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025114" "01086" "00029080" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025115" "01086" "00029081" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025116" "01086" "00029082" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025117" "01086" "00029083" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025118" "01086" "00029084" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025119" "01086" "00029085" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025120" "01086" "00029086" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025121" "01086" "00029087" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025122" "01086" "00029088" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025123" "01086" "00029089" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025124" "01086" "00029090" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025125" "01086" "00029091" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025126" "01086" "00029092" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025127" "01086" "00029093" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025128" "01086" "00029094" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025129" "01086" "00029095" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025130" "01086" "00029096" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025131" "01086" "00029097" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025132" "01086" "00029098" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025133" "01086" "00029099" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025134" "01086" "00029100" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025135" "01086" "00029101" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025136" "01086" "00029102" "00006" "Unknown" "" "see paper; dilated cardiomyopathy, mild proximal muscle weakness, neutropenia, growth -2SD" "" "" "" "" "" "" "" "" "" "" "" "" "0000025137" "01086" "00029103" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025138" "01086" "00029104" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025139" "01086" "00029105" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025140" "01086" "00029106" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025141" "01086" "00029107" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025142" "01086" "00029108" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025143" "01086" "00029109" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025144" "01086" "00029110" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025145" "01086" "00029111" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025146" "01086" "00029112" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025147" "01086" "00029113" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025148" "01086" "00029114" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025149" "01086" "00029115" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025150" "01086" "00029116" "00006" "Familial, X-linked recessive" "" "see paper; infection" "" "" "" "" "" "" "" "" "" "" "" "" "0000025151" "01086" "00029117" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025152" "01086" "00029118" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025153" "04172" "00029119" "00006" "Unknown" "" "see paper; X-linked infantile cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025154" "01086" "00029120" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025155" "01086" "00029121" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025156" "01086" "00029122" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025157" "01086" "00029123" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025158" "01086" "00029124" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025159" "01086" "00029125" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025160" "01086" "00029126" "00006" "Isolated (sporadic)" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025161" "01086" "00029127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025162" "01086" "00029128" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025163" "01086" "00029129" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025164" "01086" "00029130" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025165" "01086" "00029131" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025166" "01086" "00029132" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025167" "01086" "00029133" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025168" "01086" "00029134" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025169" "01086" "00029135" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025170" "01086" "00029136" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025171" "01086" "00029137" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025172" "01086" "00029138" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025173" "01086" "00029139" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025174" "01086" "00029140" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025175" "01086" "00029141" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025176" "01086" "00029142" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025177" "01086" "00029143" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025178" "01086" "00029144" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025179" "01086" "00029145" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025180" "01086" "00029146" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025181" "01086" "00029147" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025182" "01086" "00029148" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025183" "01086" "00029149" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025184" "01086" "00029150" "00006" "Unknown" "" "see paper; left ventricular noncompaction, neutropenia, growth retardation, no skeletal muscle weakness, 3-methylglutaconic aciduria" "" "" "" "" "" "" "" "" "" "" "" "" "0000025185" "04173" "00029151" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025186" "01086" "00029152" "00006" "Familial, X-linked recessive" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025187" "01086" "00029153" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025188" "01086" "00029154" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025189" "01086" "00029155" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025190" "01086" "00029156" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025191" "01086" "00029157" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025192" "01086" "00029158" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025193" "01086" "00029159" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025194" "01086" "00029160" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025195" "01086" "00029161" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025196" "01086" "00029162" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025197" "01086" "00029163" "00006" "Unknown" "" "see paper; infection" "" "" "" "" "" "" "" "" "" "" "" "" "0000025198" "01086" "00029164" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025199" "01086" "00029165" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025200" "01086" "00029166" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025201" "01086" "00029167" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025202" "01086" "00029168" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025203" "01086" "00029169" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025204" "01086" "00029170" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025205" "01086" "00029171" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025206" "01086" "00029172" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025207" "01086" "00029173" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025208" "01086" "00029174" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025209" "01086" "00029175" "00006" "Unknown" "" "see paper; mild" "" "" "" "" "" "" "" "" "" "" "" "" "0000025210" "01086" "00029176" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025211" "01086" "00029177" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025212" "01086" "00029178" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025213" "01086" "00029179" "00006" "Unknown" "" "see paper; dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025214" "01086" "00029180" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025215" "01086" "00029181" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025216" "01086" "00029182" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025217" "04172" "00029183" "00006" "Familial, X-linked recessive" "" "see paper; X-linked infantile cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025218" "01086" "00029184" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025219" "01086" "00029185" "00006" "Unknown" "" "see paper; X-linked infantile cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025220" "01086" "00029186" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025221" "01086" "00029187" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025222" "01086" "00029188" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025223" "01086" "00029189" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025224" "01086" "00029190" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025225" "01086" "00029191" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025226" "01086" "00029192" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025227" "01086" "00029193" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025228" "01086" "00029194" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025229" "01086" "00029195" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025230" "01086" "00029196" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025231" "01086" "00029197" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025232" "01086" "00029198" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025233" "01086" "00029199" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025234" "01086" "00029200" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025235" "01086" "00029201" "00006" "Familial" "" "see paper; dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025236" "01086" "00029202" "00006" "Unknown" "" "see paper; X-linked infantile cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025237" "01086" "00029203" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025238" "01086" "00029204" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025239" "01086" "00029205" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025240" "01086" "00029206" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025241" "01086" "00029207" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025242" "01086" "00029208" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025243" "01086" "00029209" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025244" "01086" "00029210" "00006" "Familial, X-linked recessive" "" "see paper; infection" "" "" "" "" "" "" "" "" "" "" "" "" "0000025245" "01086" "00029211" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025246" "01086" "00029212" "00006" "Familial, X-linked recessive" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025247" "01086" "00029213" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025248" "01086" "00029214" "00006" "Unknown" "" "see paper; dilated cardiomyopathy, mild proximal muscle weakness, neutropenia, growth -2SD" "" "" "" "" "" "" "" "" "" "" "" "" "0000025249" "01086" "00029215" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025250" "01086" "00029216" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025251" "01086" "00029217" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025252" "01086" "00029218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025253" "01086" "00029219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025254" "01086" "00029220" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025255" "01086" "00029221" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025256" "01086" "00029222" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025257" "01086" "00029223" "00006" "Isolated (sporadic)" "" "see paper; diarrhea, neutropenia, feeding problems, dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025258" "01086" "00029224" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025259" "04172" "00029225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025260" "01086" "00029226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025261" "01086" "00029227" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025262" "01086" "00029228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025263" "01086" "00029229" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025264" "01086" "00029230" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025265" "01086" "00029231" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025266" "01086" "00029232" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025267" "01086" "00029233" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025268" "01086" "00029234" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025269" "01086" "00029235" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025270" "01086" "00029236" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025271" "01086" "00029237" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025272" "01086" "00029238" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025273" "01086" "00029239" "00006" "Familial, X-linked recessive" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025274" "01086" "00029240" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025275" "01086" "00029241" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025276" "01086" "00029242" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025277" "01086" "00029243" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025278" "01086" "00029244" "00006" "Isolated (sporadic)" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025279" "01086" "00029245" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025280" "01086" "00029246" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025281" "01086" "00029247" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025282" "01086" "00029248" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025283" "01086" "00029249" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025284" "01086" "00029250" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025285" "01086" "00029251" "00006" "Isolated (sporadic)" "" "see paper; dilated cardiomyopathy, no neutropenia, growth retardation, skeletal muscle weakness, 3-methylglutaconic aciduria" "" "" "" "" "" "" "" "" "" "" "" "" "0000025286" "01086" "00029252" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025287" "01086" "00029253" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025288" "01086" "00029254" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025289" "01086" "00029255" "00006" "Familial, X-linked recessive" "" "see paper; growth delay" "" "" "" "" "" "" "" "" "" "" "" "" "0000025290" "01086" "00029256" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025291" "01086" "00029257" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025292" "01086" "00029258" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025293" "04172" "00029259" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025294" "01086" "00029260" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025295" "01086" "00029261" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025296" "01086" "00029262" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025297" "01086" "00029263" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025298" "01086" "00029264" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025299" "01086" "00029265" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025300" "01086" "00029266" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025301" "01086" "00029267" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025302" "01086" "00029268" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025303" "01086" "00029269" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025304" "01086" "00029270" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025305" "01086" "00029271" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025306" "01086" "00029272" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025307" "01086" "00029273" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025308" "01086" "00029274" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025309" "01086" "00029275" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025310" "01086" "00029276" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025311" "01086" "00029277" "00006" "Familial" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025312" "01086" "00029278" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025313" "01086" "00029279" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025314" "01086" "00029280" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025315" "01086" "00029281" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025316" "01086" "00029282" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025317" "01086" "00029283" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025318" "01086" "00029284" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025319" "01086" "00029285" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025320" "01086" "00029286" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025321" "01086" "00029287" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025322" "01086" "00029288" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025323" "01086" "00029289" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025324" "01086" "00029290" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025325" "01086" "00029291" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025326" "01086" "00029292" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025327" "01086" "00029293" "00006" "Isolated (sporadic)" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025328" "01086" "00029294" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025329" "01086" "00029295" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025330" "01086" "00029296" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025331" "01086" "00029297" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025332" "01086" "00029298" "00006" "Unknown" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025333" "01086" "00029299" "00006" "Isolated (sporadic)" "" "see paper; cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "0000025334" "01086" "00029300" "00006" "Familial, X-linked recessive" "" "see paper; cardiomyopathy, sepsis" "" "" "" "" "" "" "" "" "" "" "" "" "0000025335" "01086" "00029301" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025336" "01086" "00029302" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025337" "01086" "00029303" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025338" "01086" "00029304" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025339" "01086" "00029305" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025340" "01086" "00029306" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025341" "01086" "00029307" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025342" "01086" "00029308" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025343" "01086" "00029309" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025344" "00000" "00029310" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025345" "00000" "00029311" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025346" "00000" "00029312" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025347" "00000" "00029313" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025348" "00000" "00029314" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025349" "00000" "00029315" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025350" "00000" "00029316" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025351" "00000" "00029317" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025352" "00000" "00029318" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025353" "00000" "00029319" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025354" "00000" "00029320" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025355" "00000" "00029321" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025356" "00000" "00029322" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025357" "00000" "00029323" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025358" "01086" "00029324" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025359" "00000" "00029325" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025360" "00000" "00029326" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025361" "00000" "00029327" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025362" "00000" "00029328" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025363" "00000" "00029329" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025364" "04173" "00029330" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025365" "00000" "00029331" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025366" "00000" "00029332" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025367" "00000" "00029333" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025368" "00000" "00029334" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025369" "00000" "00029335" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025370" "00000" "00029336" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025371" "00000" "00029337" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025372" "00000" "00029338" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025373" "00000" "00029339" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025374" "00000" "00029340" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025375" "00000" "00029341" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025376" "00000" "00029342" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025377" "00000" "00029343" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025378" "00000" "00029344" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025379" "00000" "00029345" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025380" "00000" "00029346" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025381" "00000" "00029347" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025382" "00000" "00029348" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025383" "00000" "00029349" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025384" "00000" "00029350" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025385" "00000" "00029351" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025386" "00000" "00029352" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025387" "00000" "00029353" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025388" "00000" "00029354" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025389" "00000" "00029355" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025390" "00000" "00029356" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025391" "01086" "00029357" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025392" "04173" "00029358" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025393" "01086" "00029359" "00006" "Unknown" "" "see paper; dilated cardiomyopathy, mild proximal muscle weakness, neutropenia, growth -3SD" "" "" "" "" "" "" "" "" "" "" "" "" "0000037305" "00198" "00050693" "00006" "Isolated (sporadic)" "" "drooling, unsteady gait, abnormal facial shape, lactose intolerance" "" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000050823" "02087" "00043790" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129008" "00352" "00163896" "02438" "Isolated (sporadic)" "" "ventricular tachycardia (HP:0004756)" "70y" "" "70y" "syncope (HP:0001279)" "" "" "" "" "" "" "" "" "0000143889" "00187" "00183135" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" "" "0000156843" "00198" "00037222" "01164" "Unknown" "" "praenatal cardiomyopathy,myocardial failure, hypotonia, sucking weakness, family history: older brother: neutropaenia and muscle weakness, maternal cousin died from neutropaenia; other patient: clinical Barth syndrome (younger brother), index has neutropaenia and hypotonia" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000156844" "01926" "00037223" "01164" "Unknown" "" "myasthenia, short stature, mikrocephaly, speech disorder, suspected Barth syndrome" "" "" "" "" "" "" "" "" "" "" "myasthenia" "" "0000209107" "00198" "00274162" "00006" "Familial, X-linked recessive" "" "deceased; neonatal onset; 3-MGA in urine; mitochondrial disease criteria score 3; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000241635" "04172" "00317889" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241636" "04172" "00317890" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241637" "04172" "00317891" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000258142" "00198" "00362772" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "Barth syndrome" "" "0000258143" "00198" "00362773" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "Barth syndrome" "" "0000318920" "00198" "00427974" "00006" "Familial, X-linked recessive" "00y07m" "neonate admitted to intensive care with cardiac and metabolic abnormalities" "" "" "" "" "" "" "" "" "" "BTHS" "Barth syndrome" "" "0000321839" "00198" "00431234" "00006" "Familial, X-linked recessive" "" "ophthalmoplegia, myopathic facies, myalgia, diabetes, arrhythmias" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 334 "{{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" "" "" "0000016265" "00016143" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000029089" "00029045" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029090" "00029046" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029091" "00029047" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029092" "00029048" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029093" "00029049" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029094" "00029050" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029095" "00029051" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029096" "00029052" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029097" "00029053" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029098" "00029054" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029099" "00029055" "1" 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"00029077" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029122" "00029078" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029123" "00029079" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029124" "00029080" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029125" "00029081" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029126" "00029082" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029127" "00029083" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029128" "00029084" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029129" "00029085" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029130" "00029086" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029131" "00029087" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029132" "00029088" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029133" "00029089" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029134" "00029090" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029135" "00029091" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029136" "00029092" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029137" "00029093" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029138" "00029094" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029139" "00029095" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029140" "00029096" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029141" "00029097" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029142" "00029098" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029143" "00029099" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029144" "00029100" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029145" "00029101" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029146" "00029102" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029147" "00029103" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029148" "00029104" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029149" "00029105" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029150" "00029106" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029151" "00029107" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029152" "00029108" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029153" "00029109" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029154" "00029110" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029155" "00029111" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029156" "00029112" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029157" "00029113" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029158" "00029114" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029159" "00029115" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029160" "00029116" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029161" "00029117" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029162" "00029118" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029163" "00029119" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029164" "00029120" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029165" "00029121" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029166" "00029122" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029167" "00029123" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029168" "00029124" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029169" "00029125" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029170" "00029126" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029171" "00029127" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029172" "00029128" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029173" "00029129" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029174" "00029130" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029175" "00029131" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029176" "00029132" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029177" "00029133" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029178" "00029134" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029179" "00029135" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029180" "00029136" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029181" "00029137" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029182" "00029138" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029183" "00029139" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029184" "00029140" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029185" "00029141" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029186" "00029142" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029187" "00029143" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029188" "00029144" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029189" "00029145" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029190" "00029146" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029191" "00029147" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029192" "00029148" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029193" "00029149" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029194" "00029150" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029195" "00029151" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029196" "00029152" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029197" "00029153" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" 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"DNA" "" "" "0000029209" "00029165" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029210" "00029166" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029211" "00029167" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029212" "00029168" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029213" "00029169" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029214" "00029170" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029215" "00029171" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029216" "00029172" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029217" "00029173" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029218" "00029174" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029219" "00029175" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029220" "00029176" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029221" "00029177" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029222" "00029178" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029223" "00029179" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029224" "00029180" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029225" "00029181" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029226" "00029182" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029227" "00029183" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029228" "00029184" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029229" "00029185" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029230" "00029186" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029231" "00029187" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029232" "00029188" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029233" "00029189" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029234" "00029190" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029235" "00029191" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029236" "00029192" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029237" "00029193" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029238" "00029194" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029239" "00029195" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029240" "00029196" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029241" "00029197" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029242" "00029198" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029243" "00029199" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029244" "00029200" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029245" "00029201" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029246" "00029202" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029247" "00029203" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029248" "00029204" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029249" "00029205" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029250" "00029206" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029251" "00029207" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029252" "00029208" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029253" "00029209" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029254" "00029210" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029255" "00029211" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029256" "00029212" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029257" "00029213" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029258" "00029214" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029259" "00029215" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029260" "00029216" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029261" "00029217" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029262" "00029218" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029263" "00029219" "1" "00006" "00006" 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"00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029396" "00029352" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029397" "00029353" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029398" "00029354" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029399" "00029355" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029400" "00029356" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029401" "00029357" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000029402" "00029358" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000029403" "00029359" "1" "00006" "00006" "2015-01-20 16:49:30" "" "" "SEQ" "DNA" "" "" "0000037292" "00037222" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037293" "00037223" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000044033" "00043790" "1" "01337" "01337" "2015-06-19 14:45:15" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000050638" "00050693" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000164760" "00163896" "1" "02438" "02438" "2018-04-22 19:44:02" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000184093" "00183135" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome" "0000275317" "00274162" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000296151" "00294983" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296152" "00294984" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319071" "00317889" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319072" "00317890" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319073" "00317891" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000364000" "00362772" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364001" "00362773" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000429387" "00427974" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, myocardium" "duo WES" "0000432648" "00431234" "1" "00006" "00006" "2023-02-04 18:41:37" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 326 "{{screeningid}}" "{{geneid}}" "0000016265" "MYH7" "0000016265" "TAZ" "0000029089" "TAZ" "0000029090" "TAZ" "0000029091" "TAZ" "0000029092" "TAZ" "0000029093" "TAZ" "0000029094" "TAZ" "0000029095" "TAZ" "0000029096" "TAZ" "0000029097" "TAZ" "0000029098" "TAZ" "0000029099" "TAZ" "0000029100" "TAZ" "0000029101" "TAZ" "0000029102" "TAZ" "0000029103" "TAZ" "0000029104" "TAZ" "0000029105" "TAZ" "0000029106" "TAZ" "0000029107" "TAZ" "0000029108" "TAZ" "0000029109" "TAZ" "0000029110" "TAZ" "0000029111" "TAZ" "0000029112" "TAZ" "0000029113" "TAZ" "0000029114" "TAZ" "0000029115" "TAZ" "0000029116" "TAZ" "0000029117" "TAZ" "0000029118" "TAZ" "0000029119" "TAZ" "0000029120" "TAZ" "0000029121" "TAZ" "0000029122" "TAZ" "0000029123" "TAZ" "0000029124" "TAZ" "0000029125" "TAZ" "0000029126" "TAZ" "0000029127" "TAZ" "0000029128" "TAZ" "0000029129" "TAZ" "0000029130" "TAZ" "0000029131" "TAZ" "0000029132" "TAZ" "0000029133" "TAZ" "0000029134" "TAZ" "0000029135" "TAZ" "0000029136" "TAZ" "0000029137" "TAZ" "0000029138" "TAZ" "0000029139" "TAZ" "0000029140" "TAZ" "0000029141" "TAZ" "0000029142" "TAZ" "0000029143" "TAZ" "0000029144" "TAZ" "0000029145" "TAZ" "0000029146" "TAZ" "0000029147" "TAZ" "0000029148" "TAZ" "0000029149" "TAZ" "0000029150" "TAZ" "0000029151" "TAZ" "0000029152" "TAZ" "0000029153" "TAZ" "0000029154" "TAZ" "0000029155" "TAZ" "0000029156" "TAZ" "0000029157" "TAZ" "0000029158" "TAZ" "0000029159" "TAZ" "0000029160" "TAZ" "0000029161" "TAZ" "0000029162" "TAZ" "0000029163" "TAZ" "0000029164" "TAZ" "0000029165" "TAZ" "0000029166" "TAZ" "0000029167" "TAZ" "0000029168" "TAZ" "0000029169" "TAZ" "0000029170" "TAZ" "0000029171" "TAZ" "0000029172" "TAZ" "0000029173" "TAZ" "0000029174" "TAZ" "0000029175" "TAZ" "0000029176" "TAZ" "0000029177" "TAZ" "0000029178" "TAZ" "0000029179" "TAZ" "0000029180" "TAZ" "0000029181" "TAZ" "0000029182" "TAZ" "0000029183" "TAZ" "0000029184" "TAZ" "0000029185" "TAZ" "0000029186" "TAZ" "0000029187" "TAZ" "0000029188" "TAZ" "0000029189" "TAZ" "0000029190" "TAZ" "0000029191" "TAZ" "0000029192" "TAZ" "0000029193" "TAZ" "0000029194" "TAZ" "0000029195" "TAZ" "0000029196" "TAZ" "0000029197" "TAZ" "0000029198" "TAZ" "0000029199" "TAZ" "0000029200" "TAZ" "0000029201" "TAZ" "0000029202" "TAZ" "0000029203" "TAZ" "0000029204" "TAZ" "0000029205" "TAZ" "0000029206" "TAZ" "0000029207" "TAZ" "0000029208" "TAZ" "0000029209" "TAZ" "0000029210" "TAZ" "0000029211" "TAZ" "0000029212" "TAZ" "0000029213" "TAZ" "0000029214" "TAZ" "0000029215" "TAZ" "0000029216" "TAZ" "0000029217" "TAZ" "0000029218" "TAZ" "0000029219" "TAZ" "0000029220" "TAZ" "0000029221" "TAZ" "0000029222" "TAZ" "0000029223" "TAZ" "0000029224" "TAZ" "0000029225" "TAZ" "0000029226" "TAZ" "0000029227" "TAZ" "0000029228" "TAZ" "0000029229" "TAZ" "0000029230" "TAZ" "0000029231" "TAZ" "0000029232" "TAZ" "0000029233" "TAZ" "0000029234" "TAZ" "0000029235" "TAZ" "0000029236" "TAZ" "0000029237" "TAZ" "0000029238" "TAZ" "0000029239" "TAZ" "0000029240" "TAZ" "0000029241" "TAZ" "0000029242" "TAZ" "0000029243" "TAZ" "0000029244" "TAZ" "0000029245" "TAZ" "0000029246" "TAZ" "0000029247" "TAZ" "0000029248" "TAZ" "0000029249" "TAZ" "0000029250" "TAZ" "0000029251" "TAZ" "0000029252" "TAZ" "0000029253" "TAZ" "0000029254" "TAZ" "0000029255" "TAZ" "0000029256" "TAZ" "0000029257" "TAZ" "0000029258" "TAZ" "0000029259" "TAZ" "0000029260" "TAZ" "0000029261" "TAZ" "0000029262" "TAZ" "0000029263" "TAZ" "0000029264" "TAZ" "0000029265" "TAZ" "0000029266" "TAZ" "0000029267" "TAZ" "0000029268" "TAZ" "0000029269" "TAZ" "0000029270" "TAZ" "0000029271" "TAZ" "0000029272" "TAZ" "0000029273" "TAZ" "0000029274" "TAZ" "0000029275" "TAZ" "0000029276" "TAZ" "0000029277" "TAZ" "0000029278" "TAZ" "0000029279" "TAZ" "0000029280" "TAZ" "0000029281" "TAZ" "0000029282" "TAZ" "0000029283" "TAZ" "0000029284" "TAZ" "0000029285" "TAZ" "0000029286" "TAZ" "0000029287" "TAZ" "0000029288" "TAZ" "0000029289" "TAZ" "0000029290" "TAZ" "0000029291" "TAZ" "0000029292" "TAZ" "0000029293" "TAZ" "0000029294" "TAZ" "0000029295" "TAZ" "0000029296" "TAZ" "0000029297" "TAZ" "0000029298" "TAZ" "0000029299" "TAZ" "0000029300" "TAZ" "0000029301" "TAZ" "0000029302" "TAZ" "0000029303" "TAZ" "0000029304" "TAZ" "0000029305" "TAZ" "0000029306" "TAZ" "0000029307" "TAZ" "0000029308" "TAZ" "0000029309" "TAZ" "0000029310" "TAZ" "0000029311" "TAZ" "0000029312" "TAZ" "0000029313" "TAZ" "0000029314" "TAZ" "0000029315" "TAZ" "0000029316" "TAZ" "0000029317" "TAZ" "0000029318" "TAZ" "0000029319" "TAZ" "0000029320" "TAZ" "0000029321" "TAZ" "0000029322" "TAZ" "0000029323" "TAZ" "0000029324" "TAZ" "0000029325" "TAZ" "0000029326" "TAZ" "0000029327" "TAZ" "0000029328" "TAZ" "0000029329" "TAZ" "0000029330" "TAZ" "0000029331" "TAZ" "0000029332" "TAZ" "0000029333" "TAZ" "0000029334" "TAZ" "0000029335" "TAZ" "0000029336" "TAZ" "0000029337" "TAZ" "0000029338" "TAZ" "0000029339" "TAZ" "0000029340" "TAZ" "0000029341" "TAZ" "0000029342" "TAZ" "0000029343" "TAZ" "0000029344" "TAZ" "0000029345" "TAZ" "0000029346" "TAZ" "0000029347" "TAZ" "0000029348" "TAZ" "0000029349" "TAZ" "0000029350" "TAZ" "0000029351" "TAZ" "0000029352" "TAZ" "0000029353" "TAZ" "0000029354" "TAZ" "0000029355" "TAZ" "0000029356" "TAZ" "0000029357" "TAZ" "0000029358" "TAZ" "0000029359" "TAZ" "0000029360" "TAZ" "0000029361" "TAZ" "0000029362" "TAZ" "0000029363" "TAZ" "0000029364" "TAZ" "0000029365" "TAZ" "0000029366" "TAZ" "0000029367" "TAZ" "0000029368" "TAZ" "0000029369" "TAZ" "0000029370" "TAZ" "0000029371" "TAZ" "0000029372" "TAZ" "0000029373" "TAZ" "0000029374" "TAZ" "0000029375" "TAZ" "0000029376" "TAZ" "0000029377" "TAZ" "0000029378" "TAZ" "0000029379" "TAZ" "0000029380" "TAZ" "0000029381" "TAZ" "0000029382" "TAZ" "0000029383" "TAZ" "0000029384" "TAZ" "0000029385" "TAZ" "0000029386" "TAZ" "0000029387" "TAZ" "0000029388" "TAZ" "0000029389" "TAZ" "0000029390" "TAZ" "0000029391" "TAZ" "0000029392" "TAZ" "0000029393" "TAZ" "0000029394" "TAZ" "0000029395" "TAZ" "0000029396" "TAZ" "0000029397" "TAZ" "0000029398" "TAZ" "0000029399" "TAZ" "0000029400" "TAZ" "0000029401" "TAZ" "0000029402" "TAZ" "0000029403" "TAZ" "0000037292" "TAZ" "0000037293" "TAZ" "0000184093" "GDI1" "0000275317" "TAZ" "0000319071" "TAZ" "0000319072" "TAZ" "0000319073" "TAZ" "0000364000" "TAZ" "0000364001" "TAZ" ## 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 = 490 "{{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}}" "0000003346" "20" "30" "X" "153640060" "153640060" "del" "0" "00037" "TAZ_000203" "g.153640060del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154411724del" "" "likely benign" "" "0000008072" "20" "30" "X" "153649813" "153649813" "subst" "0.871104" "00037" "TAZ_000205" "g.153649813G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154421474=" "" "likely benign" "" "0000010252" "20" "30" "X" "153649813" "153649813" "subst" "0.871104" "00037" "TAZ_000205" "g.153649813G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154421474=" "" "likely benign" "" "0000011332" "20" "30" "X" "153640060" "153640060" "del" "0" "00037" "TAZ_000203" "g.153640060del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154411724del" "" "likely benign" "" "0000036033" "1" "30" "X" "153648381" "153648381" "subst" "0" "00668" "TAZ_000204" "g.153648381C>T" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.154420042C>T" "" "likely benign" "" "0000052440" "0" "50" "X" "153641862" "153641862" "subst" "0" "00006" "TAZ_000097" "g.153641862T>C" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Ala118Pro, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154413525T>C" "" "NA" "" "0000052441" "0" "30" "X" "153640551" "153640551" "subst" "0" "00006" "TAZ_000078" "g.153640551G>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Ala88Arg, MLCL raised, protease degraded; in absence of protease MLCLreduced, no CL increase" "In vitro (cloned)" "-" "" "0" "" "" "g.154412214G>A" "" "NA" "" "0000052442" "0" "90" "X" "153641544" "153641544" "subst" "0" "00006" "TAZ_000081" "g.153641544G>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Ala88Glu, MLCL raised, complex labile; in absence of protease CLraised, MLCL reduced" "In vitro (cloned)" "-" "" "0" "" "" "g.154413207G>A" "" "NA" "" "0000052443" "0" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Arg102Cys, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154413248C>T" "" "NA" "" "0000052444" "0" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000037" "g.153641585C>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Arg102Ser, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154413248C>A" "" "NA" "" "0000052445" "0" "90" "X" "153641836" "153641836" "subst" "0" "00006" "TAZ_000092" "g.153641836A>T" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Asn109Val, MLCL raised, functional hypomorphic" "In vitro (cloned)" "-" "" "0" "" "" "g.154413499A>T" "" "NA" "" "0000052446" "0" "90" "X" "153640431" "153640431" "subst" "0" "00006" "TAZ_000024" "g.153640431A>G" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Asn48Asp, MLCL normal; 37oC expression 0.30" "In vitro (cloned)" "-" "" "0" "" "" "g.154412094A>G" "" "NA" "" "0000052447" "0" "90" "X" "153641883" "153641883" "subst" "0" "00006" "TAZ_000104" "g.153641883A>G" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Gln125Glu, MLCL raised, complex labile" "In vitro (cloned)" "-" "" "0" "" "" "g.154413546A>G" "" "NA" "" "0000052448" "0" "90" "X" "153641881" "153641881" "subst" "0" "00006" "TAZ_000102" "g.153641881G>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Gly124Asp, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154413544G>A" "" "NA" "" "0000052449" "0" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Gly230Arg, MLCL raised, aberrant assembly" "In vitro (cloned)" "-" "" "0" "" "" "g.154420094G>A" "" "NA" "" "0000052450" "0" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000036" "g.153649015G>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Gly261Arg, MLCL normal, 37oC expression 0.80; CLedcued, MLCL increased" "In vitro (cloned)" "-" "" "0" "" "" "g.154420676G>A" "" "NA" "" "0000052451" "0" "90" "X" "153640520" "153640520" "subst" "0" "00006" "TAZ_000019" "g.153640520C>G" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.His77Gln, MLC raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154412183C>G" "" "NA" "" "0000052452" "0" "90" "X" "153648422" "153648422" "subst" "0" "00006" "TAZ_000011" "g.153648422T>C" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Ile226Pro, MLCL raised, aggregate prone, protease degraded" "In vitro (cloned)" "-" "" "0" "" "" "g.154420083T>C" "" "NA" "" "0000052453" "0" "90" "X" "153647927" "153647927" "subst" "0" "00006" "TAZ_000128" "g.153647927T>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Leu148His, MLCL raised, complex labile; in absence protease CL increased, MLCL reduced; increased MLCL to CL transacylase activity" "In vitro (cloned)" "-" "" "0" "" "" "g.154419588T>A" "" "NA" "" "0000052454" "0" "90" "X" "153641550" "153641550" "subst" "0" "00006" "TAZ_000082" "g.153641550T>C" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Leu90Pro, MLCL raised; functional hypomorphic" "In vitro (cloned)" "-" "" "0" "" "" "g.154413213T>C" "" "NA" "" "0000052455" "0" "90" "X" "153640483" "153640483" "subst" "0" "00006" "TAZ_000067" "g.153640483G>T" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Lys65Leu, CL reduced, MLCL raised, 37oC expression 0.30" "In vitro (cloned)" "-" "" "0" "" "" "g.154412146G>T" "" "NA" "" "0000052456" "0" "90" "X" "153641844" "153641844" "subst" "0" "00006" "TAZ_000095" "g.153641844T>G" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Phe112Val, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154413507T>G" "" "NA" "" "0000052457" "0" "90" "X" "153647902" "153647902" "subst" "0" "00006" "TAZ_000125" "g.153647902G>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Ser140Arg, MLCL raised, complex labile; in absence of protease MLCL reduced, no CL increase" "In vitro (cloned)" "-" "" "0" "" "" "g.154419563G>A" "" "NA" "" "0000052458" "0" "90" "X" "153640524" "153640524" "subst" "0" "00006" "TAZ_000071" "g.153640524T>C" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Ser79Pro, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154412187T>C" "" "NA" "" "0000052459" "0" "90" "X" "153647953" "153647953" "subst" "0" "00006" "TAZ_000022" "g.153647953T>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Tyr187Ile, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154419614T>A" "" "NA" "" "0000052460" "0" "90" "X" "153648050" "153648050" "subst" "0" "00006" "TAZ_000137" "g.153648050T>G" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Val192Gly, MLCL raised, catalytically null" "In vitro (cloned)" "-" "" "0" "" "" "g.154419711T>G" "" "NA" "" "0000052461" "0" "90" "X" "153648413" "153648413" "subst" "0" "00006" "TAZ_000160" "g.153648413T>A" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Val223Asn, MLCL raised, aggregate prone, protease degraded" "In vitro (cloned)" "-" "" "0" "" "" "g.154420074T>A" "" "NA" "" "0000052462" "0" "90" "X" "153648416" "153648416" "subst" "0" "00006" "TAZ_000029" "g.153648416T>G" "" "{PMID:Claypool 2011:21300850}, {PMID:Whited 2013:23100323}" "" "" "functional analysis yeast; y.Val224Arg, MLCL raised, aggregate prone, protease degraded" "In vitro (cloned)" "-" "" "0" "" "" "g.154420077T>G" "" "NA" "" "0000052463" "1" "90" "X" "153640189" "153640189" "dup" "0" "00006" "TAZ_000027" "g.153640189dup" "" "{PMID:Cantlay 1999:10484795}" "" "insG297" "de novo from mother" "De novo" "" "" "0" "" "" "g.154411852dup" "" "pathogenic" "" "0000052464" "1" "90" "X" "153640231" "153640231" "subst" "0" "00006" "TAZ_000131" "g.153640231G>A" "" "{PMID:Steward 2011:{DB:BTHS}}" "" "" "" "Germline" "" "rs104894941" "0" "" "" "g.154411894G>A" "" "pathogenic" "" "0000052465" "1" "90" "X" "153640231" "153640231" "subst" "0" "00006" "TAZ_000131" "g.153640231G>A" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Germline" "" "" "0" "" "" "g.154411894G>A" "" "pathogenic" "" "0000052466" "1" "90" "X" "153640234" "153640235" "del" "0" "00006" "TAZ_000001" "g.153640234_153640235del" "" "{PMID:Johnston 1997:09345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}" "" "53_54delCC" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154411897_154411898del" "" "pathogenic" "" "0000052467" "1" "90" "X" "153640242" "153640242" "subst" "0" "00006" "TAZ_000161" "g.153640242G>T" "" "" "" "" "" "Unknown" "" "rs112148852" "0" "" "" "g.154411905G>T" "" "pathogenic" "" "0000052468" "1" "90" "X" "153640263" "153640265" "del" "0" "00006" "TAZ_000197" "g.153640263_153640265del" "" "{PMID:Steward 2011:{DB:BTHS}}, {PMID:Kirwin 2014:24342716}" "" "82_84delGTG" "de novo from mother; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154411926_154411928del" "" "pathogenic" "" "0000052469" "1" "90" "X" "153640263" "153640263" "subst" "0" "00006" "TAZ_000199" "g.153640263T>A" "" "{DB:BTHS} - BZapała (Krakow, Poland)" "" "" "" "Germline" "" "" "0" "" "" "g.154411926T>A" "" "pathogenic" "" "0000052470" "1" "90" "X" "153640266" "153640266" "subst" "0" "00006" "TAZ_000200" "g.153640266G>A" "" "{PMID:Mazurova 2013:24093814}" "" "" "" "Unknown" "" "" "0" "" "" "g.154411929G>A" "" "pathogenic" "" "0000052471" "1" "90" "X" "153640290" "153640290" "subst" "0" "00006" "TAZ_000050" "g.153640290G>C" "" "{PMID:Chang 2010:20303308}, {PMID:Momoi 2012:21987083}" "" "" "de novo, maternal gonadal mosaicism" "De novo" "" "" "0" "" "" "g.154411953G>C" "" "pathogenic" "" "0000052472" "1" "90" "X" "153640294" "153640294" "subst" "0" "00006" "TAZ_000002" "g.153640294G>A" "" "{PMID:Johnston 1997:09345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}" "" "" "CL 6" "De novo" "" "" "0" "" "" "g.154411957G>A" "" "pathogenic" "" "0000052473" "1" "90" "X" "153640294" "153640294" "subst" "0" "00006" "TAZ_000010" "g.153640294G>C" "" "{PMID:Johnston 1997:09345098}, {PMID:Schlame 2003:14662265}, {PMID:Kelley 1991:01719174}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154411957G>C" "" "pathogenic" "" "0000052474" "1" "90" "X" "153640295" "153640295" "subst" "0" "00006" "TAZ_000020" "g.153640295T>C" "" "{PMID:Mazurova 2013:24093814}" "" "" "mRNA analysed but effect on splicing not described" "Germline" "" "" "0" "" "" "g.154411958T>C" "" "pathogenic" "" "0000052475" "1" "90" "X" "153640421" "153640421" "subst" "0" "00006" "TAZ_000054" "g.153640421A>G" "" "{PMID:Johnston 1997:09345098}" "" "" "" "Unknown" "" "" "0" "" "" "g.154412084A>G" "" "pathogenic" "" "0000052476" "1" "90" "X" "153640421" "153640421" "subst" "0" "00006" "TAZ_000054" "g.153640421A>G" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412084A>G" "" "pathogenic" "" "0000052477" "1" "90" "X" "153640421" "153640421" "subst" "0" "00006" "TAZ_000054" "g.153640421A>G" "" "{PMID:Ichida 2001:11238270}" "" "398-2A>G" "" "Germline" "" "" "0" "" "" "g.154412084A>G" "" "pathogenic" "" "0000052478" "1" "90" "X" "153640422" "153640422" "subst" "0" "00006" "TAZ_000023" "g.153640422G>C" "" "{PMID:Valianpour 2002:12410207}, {PMID:Kuijpers 2004:14764526}" "" "IVS1-1G>C" "CL 6" "Unknown" "" "" "0" "" "" "g.154412085G>C" "" "pathogenic" "" "0000052479" "1" "90" "X" "153640431" "153640431" "subst" "0" "00006" "TAZ_000024" "g.153640431A>G" "" "{PMID:Bowron 2014:25112388}" "" "" "MLCL elev, CL normal, fresh blood" "Unknown" "" "" "0" "" "" "g.154412094A>G" "" "pathogenic" "" "0000052480" "1" "90" "X" "153640431" "153640431" "subst" "0" "00006" "TAZ_000024" "g.153640431A>G" "" "{PMID:Steward 2011:{DB:BTHS}}" "" "" "MLCL elev, CL normal, fresh blood" "Unknown" "" "" "0" "" "" "g.154412094A>G" "" "pathogenic" "" "0000052481" "1" "90" "X" "153640437" "153640437" "del" "0" "00006" "TAZ_000032" "g.153640437del" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Schlame 2003:14662265}, {PMID:Kirwin 2014:24342716}" "" "" "CL 6" "Germline" "" "" "0" "" "" "g.154412100del" "" "pathogenic" "" "0000052482" "1" "90" "X" "153640437" "153640437" "del" "0" "00006" "TAZ_000032" "g.153640437del" "" "{PMID:Ichida 2001:11238270}" "" "123delC" "CL 6" "Germline" "" "" "0" "" "" "g.154412100del" "" "pathogenic" "" "0000052483" "1" "90" "X" "153640440" "153640440" "subst" "0" "00006" "TAZ_000049" "g.153640440A>C" "" "{PMID:Bachou 2009:19261493}" "" "" "" "Unknown" "" "" "0" "" "" "g.154412103A>C" "" "pathogenic" "" "0000052484" "1" "90" "X" "153640453" "153640465" "del" "0" "00006" "TAZ_000055" "g.153640453_153640465del" "" "{PMID:D\'Adamo 1997:09382096}, {PMID:Vreeken 2000:11118295}, {PMID:Schlame 2003:14662265}" "" "140_152del13 [GGGAGGTGCTGTA]" "de novo from grandfather; CL 6" "De novo" "" "" "0" "" "" "g.154412116_154412128del" "" "pathogenic" "" "0000052485" "1" "90" "X" "153640453" "153640465" "del" "0" "00006" "TAZ_000055" "g.153640453_153640465del" "" "{PMID:Gonzalez 2005:15793838}" "" "140_152del13 [GGGAGGTGCTGTA]" "CL 6" "Unknown" "" "" "0" "" "" "g.154412116_154412128del" "" "pathogenic" "" "0000052486" "1" "90" "X" "153640456" "153640456" "delins" "0" "00006" "TAZ_000043" "g.153640456delinsGG" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154412119delinsGG" "" "pathogenic" "" "0000052487" "1" "90" "X" "153640462" "153640462" "subst" "0" "00006" "TAZ_000051" "g.153640462T>C" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412125T>C" "" "pathogenic" "" "0000052488" "1" "90" "X" "153640462" "153640462" "subst" "0" "00006" "TAZ_000051" "g.153640462T>C" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412125T>C" "" "pathogenic" "" "0000052489" "1" "90" "X" "153640462" "153640462" "subst" "0" "00006" "TAZ_000051" "g.153640462T>C" "" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154412125T>C" "" "pathogenic" "" "0000052490" "1" "90" "X" "153640466" "153640466" "subst" "0" "00006" "TAZ_000017" "g.153640466C>G" "" "{PMID:Bione 1996:08630491}, {PMID:Vreeken 2000:11118295}" "" "C441G" "CL 6" "Germline" "" "rs104894941" "0" "" "" "g.154412129C>G" "" "pathogenic" "" "0000052491" "1" "90" "X" "153640466" "153640466" "subst" "0" "00006" "TAZ_000017" "g.153640466C>G" "" "{PMID:D\'Adamo 1997:09382096}, {PMID:Valianpour 2002:12410207}, {PMID:Kuijpers 2004:14764526}" "" "" "CL 6" "Germline" "" "rs104894941" "0" "" "" "g.154412129C>G" "" "pathogenic" "" "0000052492" "1" "90" "X" "153640466" "153640466" "subst" "0" "00006" "TAZ_000017" "g.153640466C>G" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Yen 2008:17846786}" "" "" "" "Unknown" "" "rs104894941" "0" "" "" "g.154412129C>G" "" "pathogenic" "" "0000052493" "1" "90" "X" "153640470" "153640470" "dup" "0" "00006" "TAZ_000052" "g.153640470dup" "" "{PMID:Xing 2006:16427346}" "" "" "" "Unknown" "" "" "0" "" "" "g.154412133dup" "" "pathogenic" "" "0000052494" "1" "90" "X" "153640474" "153640474" "subst" "0" "00006" "TAZ_000064" "g.153640474T>A" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412137T>A" "" "pathogenic" "" "0000052495" "1" "90" "X" "153640476" "153640476" "subst" "0" "00006" "TAZ_000066" "g.153640476G>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412139G>T" "" "pathogenic" "" "0000052496" "1" "90" "X" "153640483" "153640483" "subst" "0" "00006" "TAZ_000067" "g.153640483G>T" "" "{PMID:Kuijpers 2004:14764526}, {PMID:Bowron 2014:25112388}" "" "" "MLCL elev, CL normal, fresh blood" "Germline" "" "" "0" "" "" "g.154412146G>T" "" "pathogenic" "" "0000052497" "1" "90" "X" "153640483" "153640483" "subst" "0" "00006" "TAZ_000067" "g.153640483G>T" "" "{PMID:Kuijpers 2004:14764526}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154412146G>T" "" "pathogenic" "" "0000052498" "1" "90" "X" "153640484" "153640484" "del" "0" "00006" "TAZ_000068" "g.153640484del" "" "{PMID:Johnston 1997:09345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}, {PMID:Kirwin 2014:24342716}" "" "" "de novo from grandfather; CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154412147del" "" "pathogenic" "" "0000052499" "1" "90" "X" "153640498" "153640498" "subst" "0" "00006" "TAZ_000069" "g.153640498C>T" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412161C>T" "" "pathogenic" "" "0000052500" "1" "90" "X" "153640520" "153640520" "subst" "0" "00006" "TAZ_000019" "g.153640520C>G" "" "{PMID:D\'Adamo 1997:09382096}, {PMID:Steward 2010:20812380}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154412183C>G" "" "pathogenic" "" "0000052501" "1" "90" "X" "153640520" "153640520" "subst" "0" "00006" "TAZ_000019" "g.153640520C>G" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "" "0" "" "" "g.154412183C>G" "" "pathogenic" "" "0000052502" "1" "90" "X" "153640521" "153640521" "subst" "0" "00006" "TAZ_000070" "g.153640521C>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "TTN Arg1012X likely path" "Unknown" "" "" "0" "" "" "g.154412184C>T" "" "pathogenic" "" "0000052503" "1" "90" "X" "153640524" "153640524" "subst" "0" "00006" "TAZ_000071" "g.153640524T>C" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412187T>C" "" "pathogenic" "" "0000052504" "1" "90" "X" "153640524" "153640524" "subst" "0" "00006" "TAZ_000071" "g.153640524T>C" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412187T>C" "" "pathogenic" "" "0000052505" "1" "90" "X" "153640529" "153640529" "subst" "0" "00006" "TAZ_000072" "g.153640529C>A" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154412192C>A" "" "pathogenic" "" "0000052506" "1" "90" "X" "153640535" "153640535" "subst" "0" "00006" "TAZ_000073" "g.153640535C>G" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "" "0" "" "" "g.154412198C>G" "" "pathogenic" "" "0000052507" "1" "90" "X" "153640536" "153640536" "subst" "0" "00006" "TAZ_000074" "g.153640536G>C" "" "{DB:BTHS} - reported by family" "" "" "de novo from mother" "De novo" "" "" "0" "" "" "g.154412199G>C" "" "pathogenic" "" "0000052508" "1" "90" "X" "153640540" "153640540" "del" "0" "00006" "TAZ_000075" "g.153640540del" "" "{PMID:Kim 2013:23678274}" "" "" "" "Unknown" "" "" "0" "" "" "g.154412203del" "" "pathogenic" "" "0000052509" "1" "90" "X" "153640549" "153640549" "subst" "0" "00006" "TAZ_000076" "g.153640549G>A" "" "{PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}, {PMID:Kirwin 2014:24342716}" "" "" "de novo gr\'grandfather; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154412212G>A" "" "pathogenic" "" "0000052510" "1" "90" "X" "153640551" "153640551" "subst" "0" "00006" "TAZ_000077" "g.153640551G>A" "" "Miller 2005 (ACC2005 Poster1142-245)" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154412214G>A" "" "pathogenic" "" "0000052511" "1" "90" "X" "153640551" "153640551" "subst" "0" "00006" "TAZ_000077" "g.153640551G>A" "" "{PMID:Kirwin 2014:24342716}" "" "" "RNA 0.81/0.05/0.08 and some other; CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154412214G>A" "" "pathogenic" "" "0000052512" "1" "90" "X" "153640551" "153640551" "subst" "0" "00006" "TAZ_000077" "g.153640551G>A" "" "{PMID:Kirwin 2014:24342716}" "" "" "RNA 0.82/0.07/0.04 and some other; CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154412214G>A" "" "pathogenic" "" "0000052513" "1" "90" "X" "153640551" "153640551" "subst" "0" "00006" "TAZ_000077" "g.153640551G>A" "" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "" "" "Unknown" "" "" "0" "" "" "g.154412214G>A" "" "pathogenic" "" "0000052514" "1" "90" "X" "153640553" "153640553" "subst" "0" "00006" "TAZ_000053" "g.153640553T>G" "" "{PMID:Kirwin 2014:24342716}" "" "" "RNA 0.52/0.15 and some other; CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154412216T>G" "" "pathogenic" "" "0000052515" "1" "90" "X" "153641543" "153641543" "subst" "0" "00006" "TAZ_000056" "g.153641543G>A" "" "{PMID:Bione 1996:08630491}, {PMID:D\'Adamo 1997:09382096}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154413206G>A" "" "pathogenic" "" "0000052516" "1" "90" "X" "153641543" "153641543" "subst" "0" "00006" "TAZ_000057" "g.153641543G>C" "" "{PMID:Bione 1996:08630491}, {PMID:Vreeken 2000:11118295}" "" "527-1C" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413206G>C" "" "pathogenic" "" "0000052517" "1" "90" "X" "153641543" "153641543" "subst" "0" "00006" "TAZ_000057" "g.153641543G>C" "" "{PMID:D\'Adamo 1997:09382096}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413206G>C" "" "pathogenic" "" "0000052518" "1" "90" "X" "153641543" "153641543" "subst" "0" "00006" "TAZ_000057" "g.153641543G>C" "" "{PMID:van Werkhoven 2006:16873891}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413206G>C" "" "pathogenic" "" "0000052519" "1" "90" "X" "153641544" "153641544" "subst" "0" "00006" "TAZ_000080" "g.153641544G>A" "" "{DB:BTHS} Pennock/Williams (Bristol, UK), {PMID:Steward 2011:{DB:BTHS}}" "" "" "" "Germline" "" "" "0" "" "" "g.154413207G>A" "" "pathogenic" "" "0000052520" "1" "90" "X" "153641544" "153641545" "ins" "0" "00006" "TAZ_000061" "g.153641544_153641545insC" "" "{PMID:Valianpour 2002:12410207}" "" "G527insC" "CL 6" "Unknown" "" "" "0" "" "" "g.154413207_154413208insC" "" "pathogenic" "" "0000052521" "1" "90" "X" "153641550" "153641550" "subst" "0" "00006" "TAZ_000082" "g.153641550T>C" "" "{PMID:Gonzalez 2005:15793838}" "" "" "de novo from grandmother" "De novo" "" "" "0" "" "" "g.154413213T>C" "" "pathogenic" "" "0000052522" "1" "90" "X" "153641558" "153641558" "subst" "1.67969E-5" "00006" "TAZ_000083" "g.153641558C>T" "" "Exome Variant Server" "" "" "" "Unknown" "" "" "0" "" "" "g.154413221C>T" "" "pathogenic" "" "0000052523" "1" "90" "X" "153641569" "153641569" "subst" "0" "00006" "TAZ_000084" "g.153641569G>A" "" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413232G>A" "" "pathogenic" "" "0000052524" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{PMID:Johnston 1997:09345098}, {PMID:Gonzalez 2005:15793838}" "" "" "de novo from grandfather, seen in mRNA; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154413248C>T" "" "pathogenic" "" "0000052525" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413248C>T" "" "pathogenic" "" "0000052526" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{PMID:Steward 2011:{DB:BTHS}}" "" "" "" "Germline" "" "" "0" "" "" "g.154413248C>T" "" "pathogenic" "" "0000052527" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413248C>T" "" "pathogenic" "" "0000052528" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Kirwin 2014:24342716}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413248C>T" "" "pathogenic" "" "0000052529" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{PMID:Sabater-Molina 2013:22999963}" "" "" "" "Germline" "" "" "0" "" "" "g.154413248C>T" "" "pathogenic" "" "0000052530" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000007" "g.153641585C>T" "" "{PMID:Mazurova 2013:24093814}" "" "" "" "Unknown" "" "" "0" "" "" "g.154413248C>T" "" "pathogenic" "" "0000052531" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000085" "g.153641585C>G" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "de novo from grandparent" "De novo" "" "" "0" "" "" "g.154413248C>G" "" "pathogenic" "" "0000052532" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000085" "g.153641585C>G" "" "{PMID:Steward 2010:20812380}" "" "" "de novo from grandparent; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154413248C>G" "" "pathogenic" "" "0000052533" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000037" "g.153641585C>A" "" "{PMID:Sakamoto 2002:12032589}" "" "" "" "Unknown" "" "rs104894942" "0" "" "" "g.154413248C>A" "" "pathogenic" "" "0000052534" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000037" "g.153641585C>A" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "rs104894942" "0" "" "" "g.154413248C>A" "" "pathogenic" "" "0000052535" "1" "90" "X" "153641585" "153641585" "subst" "0" "00006" "TAZ_000037" "g.153641585C>A" "" "{DB:BTHS} - reported by family" "" "" "CL6/MLCL5" "Unknown" "" "rs104894942" "0" "" "" "g.154413248C>A" "" "pathogenic" "" "0000052536" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Brady 2006:16548007}" "" "" "" "Germline" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052537" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052538" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052539" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{PMID:Claypool 2011:21300850}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052540" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{PMID:Claypool 2011:21300850}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052541" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{DB:BTHS} MvSlegtenhorst (Rotterdam, Netherlands)" "" "" "de novo from grandparent; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052542" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{DB:BTHS} MvSlegtenhorst (Rotterdam, Netherlands)" "" "" "de novo from grandparent; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052543" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{DB:BTHS} BPerez (Madrid, Spain)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052544" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052545" "1" "90" "X" "153641586" "153641586" "subst" "0" "00006" "TAZ_000042" "g.153641586G>A" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000052546" "1" "90" "X" "153641586" "153641586" "delins" "0" "00006" "TAZ_000086" "g.153641586delinsCT" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "G>CT" "" "Germline" "" "" "0" "" "" "g.154413249delinsCT" "" "pathogenic" "" "0000052547" "1" "90" "X" "153641590" "153641590" "dup" "0" "00006" "TAZ_000090" "g.153641590dup" "" "{PMID:Ferri 2013:23409742}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154413253dup" "" "pathogenic" "" "0000052548" "1" "90" "X" "153641590" "153641590" "subst" "0" "00006" "TAZ_000087" "g.153641590G>C" "" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413253G>C" "" "pathogenic" "" "0000052549" "1" "90" "X" "153641592" "153641592" "subst" "0" "00006" "TAZ_000089" "g.153641592G>T" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "" "missplicing confirmed in RNA; MYH7:Met982Thr likely path; CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413255G>T" "" "pathogenic" "" "0000052550" "1" "90" "X" "153641699" "153641699" "subst" "0" "00006" "TAZ_000034" "g.153641699G>A" "" "{PMID:Sakamoto 2001:11735032}" "" "" "" "Germline" "" "" "0" "" "" "g.154413362G>A" "" "pathogenic" "" "0000052551" "1" "90" "X" "153641819" "153641819" "delins" "0" "00006" "TAZ_000091" "g.153641819G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413482G>A" "" "pathogenic" "" "0000052552" "1" "90" "X" "153641828" "153641828" "subst" "0" "00006" "TAZ_000000" "g.153641828delins" "" "{DB:BTHS} Bowles (Houston, USA)" "" "11bp indel" "Variant Error [ESYNTAX]: This genomic variant has an error (char 32: expected EOF). Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052553" "1" "90" "X" "153641836" "153641836" "subst" "0" "00006" "TAZ_000092" "g.153641836A>T" "" "{PMID:Vreeken 2000:11118295}" "" "G590T" "CL 6" "Unknown" "" "" "0" "" "" "g.154413499A>T" "" "pathogenic" "" "0000052554" "1" "90" "X" "153641836" "153641836" "subst" "0" "00006" "TAZ_000092" "g.153641836A>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413499A>T" "" "pathogenic" "" "0000052555" "1" "90" "X" "153641841" "153641841" "subst" "0" "00006" "TAZ_000093" "g.153641841T>C" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "MYH7 Arg1863Gln likely path" "Unknown" "" "" "0" "" "" "g.154413504T>C" "" "pathogenic" "" "0000052556" "1" "90" "X" "153641844" "153641844" "subst" "0" "00006" "TAZ_000095" "g.153641844T>G" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "de novo from mother" "De novo" "" "" "0" "" "" "g.154413507T>G" "" "pathogenic" "" "0000052557" "1" "90" "X" "153641844" "153641844" "subst" "0" "00006" "TAZ_000094" "g.153641844T>C" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413507T>C" "" "pathogenic" "" "0000052558" "1" "90" "X" "153641863" "153641868" "del" "0" "00006" "TAZ_000098" "g.153641863_153641868del" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "327_332delCTCCCA" "" "Unknown" "" "" "0" "" "" "g.154413526_154413531del" "" "pathogenic" "" "0000052559" "1" "90" "X" "153641862" "153641862" "subst" "0" "00006" "TAZ_000097" "g.153641862T>C" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "de novo from mother" "De novo" "" "" "0" "" "" "g.154413525T>C" "" "pathogenic" "" "0000052560" "1" "90" "X" "153641862" "153641862" "subst" "0" "00006" "TAZ_000097" "g.153641862T>C" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413525T>C" "" "pathogenic" "" "0000052561" "1" "90" "X" "153641871" "153641873" "del" "0" "00006" "TAZ_000100" "g.153641871_153641873del" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413534_154413536del" "" "pathogenic" "" "0000052562" "1" "90" "X" "153641871" "153641873" "del" "0" "00006" "TAZ_000100" "g.153641871_153641873del" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413534_154413536del" "" "pathogenic" "" "0000052563" "1" "90" "X" "153641880" "153641880" "subst" "0" "00006" "TAZ_000101" "g.153641880G>C" "" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413543G>C" "" "pathogenic" "" "0000052564" "1" "90" "X" "153641881" "153641881" "subst" "0" "00006" "TAZ_000102" "g.153641881G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413544G>A" "" "pathogenic" "" "0000052565" "1" "90" "X" "153641881" "153641881" "subst" "0" "00006" "TAZ_000102" "g.153641881G>A" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413544G>A" "" "pathogenic" "" "0000052566" "1" "90" "X" "153641883" "153641883" "subst" "0" "00006" "TAZ_000104" "g.153641883A>G" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "de novo from mother" "De novo" "" "" "0" "" "" "g.154413546A>G" "" "pathogenic" "" "0000052567" "1" "90" "X" "153641886" "153641886" "subst" "0" "00006" "TAZ_000030" "g.153641886T>C" "" "{PMID:Ichida 2001:11238270}" "" "" "CL 6" "Unknown" "" "rs104894937" "0" "" "" "g.154413549T>C" "" "pathogenic" "" "0000052568" "1" "90" "X" "153641886" "153641886" "subst" "0" "00006" "TAZ_000030" "g.153641886T>C" "" "{PMID:Schlame 2003:14662265}" "" "" "CL 6" "Unknown" "" "rs104894937" "0" "" "" "g.154413549T>C" "" "pathogenic" "" "0000052569" "1" "90" "X" "153641886" "153641886" "subst" "0" "00006" "TAZ_000030" "g.153641886T>C" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs104894937" "0" "" "" "g.154413549T>C" "" "pathogenic" "" "0000052570" "1" "90" "X" "153641890" "153641890" "subst" "0" "00006" "TAZ_000105" "g.153641890T>G" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154413553T>G" "" "pathogenic" "" "0000052571" "1" "90" "X" "153641892" "153641892" "subst" "0" "00006" "TAZ_000106" "g.153641892C>A" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413555C>A" "" "pathogenic" "" "0000052572" "1" "90" "X" "153641901" "153641901" "subst" "0" "00006" "TAZ_000044" "g.153641901C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Germline" "" "" "0" "" "" "g.154413564C>T" "" "pathogenic" "" "0000052573" "1" "90" "X" "153641901" "153641901" "subst" "0" "00006" "TAZ_000044" "g.153641901C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413564C>T" "" "pathogenic" "" "0000052574" "1" "90" "X" "153641901" "153641901" "subst" "0" "00006" "TAZ_000044" "g.153641901C>T" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413564C>T" "" "pathogenic" "" "0000052575" "1" "90" "X" "153641901" "153641901" "subst" "0" "00006" "TAZ_000044" "g.153641901C>T" "" "{PMID:van Werkhoven 2006:16873891}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154413564C>T" "" "pathogenic" "" "0000052576" "1" "90" "X" "153641901" "153641901" "subst" "0" "00006" "TAZ_000044" "g.153641901C>T" "" "{PMID:Ferri 2013:23409742}" "" "" "" "Germline" "" "" "0" "" "" "g.154413564C>T" "" "pathogenic" "" "0000052577" "1" "90" "X" "153641904" "153641904" "subst" "0" "00006" "TAZ_000109" "g.153641904G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413567G>A" "" "pathogenic" "" "0000052578" "1" "90" "X" "153641904" "153641904" "subst" "0" "00006" "TAZ_000110" "g.153641904G>C" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154413567G>C" "" "pathogenic" "" "0000052579" "1" "90" "X" "153641904" "153641904" "subst" "0" "00006" "TAZ_000111" "g.153641904G>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Schlame 2003:14662265}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154413567G>T" "" "pathogenic" "" "0000052580" "1" "90" "X" "153647899" "153647899" "subst" "0" "00006" "TAZ_000123" "g.153647899A>T" "" "{PMID:Steward 2011:{DB:BTHS}}" "" "" "" "Germline" "" "" "0" "" "" "g.154419560A>T" "" "pathogenic" "" "0000052581" "1" "90" "X" "153647899" "153647899" "subst" "0" "00006" "TAZ_000123" "g.153647899A>T" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154419560A>T" "" "pathogenic" "" "0000052582" "1" "90" "X" "153647900" "153647900" "del" "0" "00006" "TAZ_000124" "g.153647900del" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419561del" "" "pathogenic" "" "0000052583" "1" "90" "X" "153647902" "153647902" "subst" "0" "00006" "TAZ_000125" "g.153647902G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419563G>A" "" "pathogenic" "" "0000052584" "1" "90" "X" "153647918" "153647918" "subst" "0" "00006" "TAZ_000127" "g.153647918T>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419579T>A" "" "pathogenic" "" "0000052585" "1" "90" "X" "153647927" "153647927" "subst" "0" "00006" "TAZ_000128" "g.153647927T>A" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419588T>A" "" "pathogenic" "" "0000052586" "1" "90" "X" "153647928" "153647928" "subst" "5.59303E-6" "00006" "TAZ_000129" "g.153647928C>T" "" "Taylor 2011 (Cardiogenetics 1:9-12)" "" "" "minigene assay indicates mis-splicing" "Unknown" "" "" "0" "" "" "g.154419589C>T" "" "pathogenic" "" "0000052587" "1" "90" "X" "153647938" "153647938" "del" "0" "00006" "TAZ_000130" "g.153647938del" "" "{PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}, {PMID:Kirwin 2014:24342716}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154419599del" "" "pathogenic" "" "0000052588" "1" "90" "X" "153647938" "153647938" "del" "0" "00006" "TAZ_000130" "g.153647938del" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154419599del" "" "pathogenic" "" "0000052589" "1" "90" "X" "153647941" "153647941" "subst" "0" "00006" "TAZ_000132" "g.153647941T>G" "" "Bijarnia-Mahay 2012 (J Inherit Metab Dis Suppl)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419602T>G" "" "pathogenic" "" "0000052590" "1" "90" "X" "153647953" "153647953" "subst" "0" "00006" "TAZ_000022" "g.153647953T>A" "" "{PMID:D\'Adamo 1997:09382096}" "" "" "" "Unknown" "" "" "0" "" "" "g.154419614T>A" "" "pathogenic" "" "0000052591" "1" "90" "X" "153647953" "153647953" "subst" "0" "00006" "TAZ_000133" "g.153647953T>C" "" "{DB:BTHS} - EPronicka/JTrubicka (Warsaw, Poland)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419614T>C" "" "pathogenic" "" "0000052592" "1" "90" "X" "153647956" "153647956" "subst" "5.59372E-6" "00006" "TAZ_000134" "g.153647956C>G" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "MYBPC3 Glu119Lys - VUS & two TTN VUS" "Unknown" "" "" "0" "" "" "g.154419617C>G" "" "pathogenic" "" "0000052593" "1" "90" "X" "153647957" "153647957" "del" "0" "00006" "TAZ_000039" "g.153647957del" "" "{PMID:Vesel 2003:12529714}" "" "" "" "Unknown" "" "" "0" "" "" "g.154419618del" "" "pathogenic" "" "0000052594" "1" "90" "X" "153647963" "153647963" "subst" "0" "00006" "TAZ_000135" "g.153647963G>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419624G>T" "" "pathogenic" "" "0000052595" "1" "90" "X" "153647963" "153647963" "subst" "0" "00006" "TAZ_000046" "g.153647963G>A" "" "{PMID:Doanti 2006:16906470}" "" "" "" "Unknown" "" "" "0" "" "" "g.154419624G>A" "" "pathogenic" "" "0000052596" "1" "90" "X" "153648038" "153648050" "del" "0" "00006" "TAZ_000136" "g.153648038_153648050del" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "542-7_547delTCACCAGGGAAAG" "" "Unknown" "" "" "0" "" "" "g.154419699_154419711del" "" "pathogenic" "" "0000052597" "1" "90" "X" "153648050" "153648050" "subst" "0" "00006" "TAZ_000137" "g.153648050T>G" "" "{PMID:Cantlay 1999:10484795}" "" "836T>G" "" "Unknown" "" "" "0" "" "" "g.154419711T>G" "" "pathogenic" "" "0000052598" "1" "90" "X" "153648055" "153648055" "subst" "0" "00006" "TAZ_000138" "g.153648055A>G" "" "{PMID:Fan 2013:23606313}" "" "" "RNA analysis described makes no sense; CL6/MLCL5 in lymphoblasts" "Germline" "" "" "0" "" "" "g.154419716A>G" "" "pathogenic" "" "0000052599" "1" "90" "X" "153648055" "153648055" "subst" "0" "00006" "TAZ_000138" "g.153648055A>G" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK), {PMID:Bowron 2014:25112388}" "" "" "MLCL elev, CL normal, fresh blood" "Unknown" "" "" "0" "" "" "g.154419716A>G" "" "pathogenic" "" "0000052600" "1" "90" "X" "153648055" "153648055" "subst" "0" "00006" "TAZ_000138" "g.153648055A>G" "" "{DB:BTHS} Villard 2010" "" "Met155" "incorrectly reported as Met155" "Unknown" "" "" "0" "" "" "g.154419716A>G" "" "pathogenic" "" "0000052601" "1" "90" "X" "153648064" "153648064" "subst" "0" "00006" "TAZ_000035" "g.153648064G>T" "" "{PMID:BIssler 2002:11896212}" "" "G850T" "" "Germline" "" "" "0" "" "" "g.154419725G>T" "" "pathogenic" "" "0000052602" "1" "30" "X" "153648080" "153648080" "subst" "0" "00006" "TAZ_000142" "g.153648080A>T" "" "{PMID:BIssler 2002:11896212}" "" "A866T" "" "Germline" "" "" "0" "" "" "g.154419741A>T" "" "likely benign" "" "0000052603" "1" "90" "X" "153648064" "153648064" "subst" "1.67842E-5" "00006" "TAZ_000140" "g.153648064G>A" "" "Exome Variant Server" "" "" "" "Unknown" "" "" "0" "" "" "g.154419725G>A" "" "pathogenic" "" "0000052604" "1" "90" "X" "153648082" "153648082" "dup" "0" "00006" "TAZ_000065" "g.153648082dup" "" "{PMID:Bione 1996:08630491}, {PMID:D\'Adamo 1997:09382096}," "" "580_581dupT" "CL 6" "Unknown" "" "" "0" "" "" "g.154419743dup" "" "pathogenic" "" "0000052605" "1" "90" "X" "153648082" "153648082" "dup" "0" "00006" "TAZ_000065" "g.153648082dup" "" "{PMID:van Werkhoven 2006:16873891}" "" "580_581dupT" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154419743dup" "" "pathogenic" "" "0000052606" "1" "90" "X" "153648083" "153648083" "subst" "0" "00006" "TAZ_000143" "g.153648083G>A" "" "{DB:BTHS} - EPronicka/JTrubicka (Warsaw, Poland)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419744G>A" "" "pathogenic" "" "0000052607" "1" "90" "X" "153648083" "153648083" "subst" "0" "00006" "TAZ_000143" "g.153648083G>A" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419744G>A" "" "pathogenic" "" "0000052608" "1" "90" "X" "153648085" "153648085" "subst" "0" "00006" "TAZ_000152" "g.153648085G>T" "" "{PMID:Ronvelia 2012:23031367}" "" "" "" "Unknown" "" "" "0" "" "" "g.154419746G>T" "" "pathogenic" "" "0000052609" "1" "90" "X" "153648085" "153648085" "subst" "0" "00006" "TAZ_000151" "g.153648085G>A" "" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "" "predicted missplicing" "Unknown" "" "" "0" "" "" "g.154419746G>A" "" "pathogenic" "" "0000052610" "1" "90" "X" "153648086" "153648086" "subst" "0" "00006" "TAZ_000146" "g.153648086G>T" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "" "0" "" "" "g.154419747G>T" "" "pathogenic" "" "0000052611" "1" "90" "X" "153648087" "153648087" "subst" "0" "00006" "TAZ_000148" "g.153648087T>C" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154419748T>C" "" "pathogenic" "" "0000052612" "1" "90" "X" "153648090" "153648090" "subst" "0" "00006" "TAZ_000149" "g.153648090G>A" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK), {PMID:Steward 2010:20812380}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154419751G>A" "" "pathogenic" "" "0000052613" "1" "90" "X" "153648090" "153648090" "subst" "0" "00006" "TAZ_000150" "g.153648090G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "de novo from grandparent" "De novo" "" "" "0" "" "" "g.154419751G>A" "" "pathogenic" "" "0000052614" "1" "90" "X" "153648090" "153648090" "subst" "0" "00006" "TAZ_000149" "g.153648090G>A" "" "{DB:BTHS} - reported by family" "" "" "KCNE2 Ile57Thr, long QT 6" "Unknown" "" "" "0" "" "" "g.154419751G>A" "" "pathogenic" "" "0000052615" "1" "90" "X" "153648371" "153648371" "subst" "0" "00006" "TAZ_000154" "g.153648371G>T" "" "{PMID:Mazurova 2013:24093814}" "" "" "de novo from grandparent; normal splicing" "Unknown" "" "" "0" "" "" "g.154420032G>T" "" "pathogenic" "" "0000052616" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{PMID:Johnston 1997:09345098}" "" "" "de novo from mother" "De novo" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052617" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052618" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052619" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052620" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{PMID:Cantlay 1999:10484795}, {PMID:Steward 2010:20812380}" "" "877G>A" "" "Germline" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052621" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{PMID:D\'Adamo 1997:09382096}" "" "" "" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052622" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{PMID:Bleyl 1997:09382097}, {PMID:Kirwin 2014:24342716}" "" "" "CL6/MLCL5" "Germline" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052623" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{PMID:Steward 2011:{DB:BTHS}}" "" "" "" "Germline" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052624" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{DB:BTHS} Bowles (Houston, USA), {PMID:Kirwin 2014:24342716}" "" "" "CL6/MLCL5" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052625" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052626" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052627" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{PMID:Doanti 2006:16906470}" "" "" "" "Germline" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052628" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{DB:BTHS} - reported by family" "" "" "CL6/MLCL5" "Unknown" "" "rs132630277" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052629" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000009" "g.153648376G>A" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000052630" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000155" "g.153648376G>T" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420037G>T" "" "pathogenic" "" "0000052631" "1" "90" "X" "153648376" "153648376" "subst" "0" "00006" "TAZ_000155" "g.153648376G>T" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420037G>T" "" "pathogenic" "" "0000052632" "1" "90" "X" "153648377" "153648377" "subst" "0" "00006" "TAZ_000060" "g.153648377G>T" "" "{PMID:Kuijpers 2004:14764526}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154420038G>T" "" "pathogenic" "" "0000052633" "1" "90" "X" "153648377" "153648377" "subst" "0" "00006" "TAZ_000060" "g.153648377G>T" "" "{PMID:Valianpour 2002:12410207}" "" "G877T" "CL 6" "Unknown" "" "" "0" "" "" "g.154420038G>T" "" "pathogenic" "" "0000052634" "1" "90" "X" "153648377" "153648377" "subst" "0" "00006" "TAZ_000008" "g.153648377G>A" "" "{PMID:Johnston 1997:09345098}, {PMID:Gonzalvez 2013:23523468}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420038G>A" "" "pathogenic" "" "0000052635" "1" "90" "X" "153648377" "153648377" "subst" "0" "00006" "TAZ_000008" "g.153648377G>A" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420038G>A" "" "pathogenic" "" "0000052636" "1" "90" "X" "153648377" "153648377" "subst" "0" "00006" "TAZ_000008" "g.153648377G>A" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420038G>A" "" "pathogenic" "" "0000052637" "1" "90" "X" "153648380" "153648380" "subst" "5.59265E-6" "00006" "TAZ_000157" "g.153648380G>A" "" "Exome Variant Server" "" "" "" "Unknown" "" "" "0" "" "" "g.154420041G>A" "" "pathogenic" "" "0000052638" "1" "90" "X" "153648390" "153648392" "del" "0" "00006" "TAZ_000158" "g.153648390_153648392del" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420051_154420053del" "" "pathogenic" "" "0000052639" "1" "90" "X" "153648392" "153648395" "del" "0" "00006" "TAZ_000159" "g.153648392_153648395del" "" "{PMID:Marziliano 2007:17394203}, {PMID:Aljishi 2010:20981509}" "" "" "LDB3 p.Thr350Ile (NP_009009) SIFT: tolerated" "Germline" "" "" "0" "" "" "g.154420053_154420056del" "" "pathogenic" "" "0000052640" "1" "90" "X" "153648413" "153648413" "subst" "0" "00006" "TAZ_000160" "g.153648413T>A" "" "{PMID:Johnston 1997:09345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalvez 2013:23523468}" "" "" "CL 6" "Germline" "" "" "0" "" "" "g.154420074T>A" "" "pathogenic" "" "0000052641" "1" "90" "X" "153648413" "153648413" "subst" "0" "00006" "TAZ_000160" "g.153648413T>A" "" "{PMID:Steward 2010:20812380}" "" "" "" "Germline" "" "" "0" "" "" "g.154420074T>A" "" "pathogenic" "" "0000052642" "1" "90" "X" "153648416" "153648416" "subst" "0" "00006" "TAZ_000029" "g.153648416T>G" "" "{PMID:Cantlay 1999:10484795}" "" "917T>G" "de novo from mother; CL6" "De novo" "" "" "0" "" "" "g.154420077T>G" "" "pathogenic" "" "0000052643" "1" "90" "X" "153648416" "153648416" "subst" "0" "00006" "TAZ_000029" "g.153648416T>G" "" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "" "de novo from mother; CL6" "De novo" "" "" "0" "" "" "g.154420077T>G" "" "pathogenic" "" "0000052644" "1" "90" "X" "153648421" "153648421" "del" "0" "00006" "TAZ_000058" "g.153648421del" "" "{PMID:D\'Adamo 1997:09382096}, {PMID:van Werkhoven 2006:16873891}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154420082del" "" "pathogenic" "" "0000052645" "1" "90" "X" "153648422" "153648422" "subst" "0" "00006" "TAZ_000011" "g.153648422T>C" "" "{PMID:Johnston 1997:09345098}, {PMID:Schlame 2003:14662265}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154420083T>C" "" "pathogenic" "" "0000052646" "1" "90" "X" "153648428" "153648428" "subst" "0" "00006" "TAZ_000162" "g.153648428A>G" "" "{PMID:Ferri 2013:23409742}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420089A>G" "" "pathogenic" "" "0000052647" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052648" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052649" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052650" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{PMID:D\'Adamo 1997:09382096}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052651" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{PMID:D\'Adamo 1997:09382096}, {PMID:Kuijpers 2004:14764526}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052652" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000164" "g.153648433G>C" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>C" "" "pathogenic" "" "0000052653" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052654" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{DB:BTHS} MvSlegtenhorst (Rotterdam, Netherlands)" "" "" "de novo from mother; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052655" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{PMID:Takeda 2011:21932011}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052656" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{PMID:Karkucinska-Wieckowska 2013:23361305}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052657" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052658" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052659" "1" "90" "X" "153648433" "153648433" "subst" "0" "00006" "TAZ_000025" "g.153648433G>A" "" "{PMID:Folsi 2014:24887148}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000052660" "1" "90" "X" "153648550" "153648550" "subst" "0" "00006" "TAZ_000040" "g.153648550G>C" "" "{PMID:Chen 2002:12468278}, {PMID:Xing 2006:16427346}" "" "" "" "Germline" "" "" "0" "" "" "g.154420211G>C" "" "pathogenic" "" "0000052661" "1" "90" "X" "153648551" "153648551" "subst" "0" "00006" "TAZ_000167" "g.153648551G>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420212G>T" "" "pathogenic" "" "0000052662" "1" "90" "X" "153648557" "153648560" "dup" "0" "00006" "TAZ_000168" "g.153648557_153648560dup" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "654_655dupGAAT" "" "Unknown" "" "" "0" "" "" "g.154420218_154420221dup" "" "pathogenic" "" "0000052663" "1" "90" "X" "153648562" "153648565" "dup" "0" "00006" "TAZ_000170" "g.153648562_153648565dup" "" "{PMID:Rigaud 2013:23656970}" "" "658_661dupGTCC" "CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154420223_154420226dup" "" "pathogenic" "" "0000052664" "1" "90" "X" "153648582" "153648595" "del" "0" "00006" "TAZ_000172" "g.153648582_153648595del" "" "{PMID:Ferri 2013:23409742}" "" "678_691del14" "" "Germline" "" "" "0" "" "" "g.154420243_154420256del" "" "pathogenic" "" "0000052665" "1" "90" "X" "153648590" "153648594" "del" "0" "00006" "TAZ_000173" "g.153648590_153648594del" "" "{DB:BTHS} SMeldau (South Africa)" "" "686_690delCCCGC" "" "Unknown" "" "" "0" "" "" "g.154420251_154420255del" "" "pathogenic" "" "0000052666" "1" "90" "X" "153648592" "153648592" "del" "0" "00006" "TAZ_000174" "g.153648592del" "" "{PMID:Johnston 1997:09345098}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420253del" "" "pathogenic" "" "0000052667" "1" "90" "X" "153648598" "153648598" "subst" "0" "00006" "TAZ_000175" "g.153648598G>T" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420259G>T" "" "pathogenic" "" "0000052668" "1" "90" "X" "153648601" "153648601" "subst" "0" "00006" "TAZ_000013" "g.153648601C>T" "" "{PMID:Johnston 1997:09345098}" "" "" "" "Germline" "" "" "0" "" "" "g.154420262C>T" "" "pathogenic" "" "0000052669" "1" "90" "X" "153648601" "153648601" "subst" "0" "00006" "TAZ_000013" "g.153648601C>T" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420262C>T" "" "pathogenic" "" "0000052670" "1" "90" "X" "153648604" "153648604" "subst" "0" "00006" "TAZ_000176" "g.153648604G>T" "" "{PMID:Schlame 2003:14662265}, {PMID:Kirwin 2014:24342716}" "" "" "de novo from grandfather; RNA 0.60/0.10 and some other; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154420265G>T" "" "pathogenic" "" "0000052671" "1" "90" "X" "153648604" "153648604" "subst" "0" "00006" "TAZ_000176" "g.153648604G>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154420265G>T" "" "pathogenic" "" "0000052672" "1" "90" "X" "153648995" "153648995" "subst" "0" "00006" "TAZ_000045" "g.153648995A>C" "" "{PMID:van Werkhoven 2006:16873891}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154420656A>C" "" "pathogenic" "" "0000052673" "1" "90" "X" "153648996" "153648996" "subst" "0" "00006" "TAZ_000178" "g.153648996G>A" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420657G>A" "" "pathogenic" "" "0000052674" "1" "90" "X" "153648996" "153648996" "subst" "0" "00006" "TAZ_000178" "g.153648996G>A" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420657G>A" "" "pathogenic" "" "0000052675" "1" "90" "X" "153649000" "153649000" "dup" "0" "00006" "TAZ_000014" "g.153649000dup" "" "{PMID:Johnston 1997:09345098}, {PMID:Kirwin 2014:24342716}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420661dup" "" "pathogenic" "" "0000052676" "1" "90" "X" "153649007" "153649008" "del" "0" "00006" "TAZ_000179" "g.153649007_153649008del" "" "{DB:BTHS} JChristodoulou (Westmead, Australia)" "" "710_711delTG" "" "Unknown" "" "" "0" "" "" "g.154420668_154420669del" "" "pathogenic" "" "0000052677" "1" "90" "X" "153649007" "153649008" "del" "0" "00006" "TAZ_000179" "g.153649007_153649008del" "" "{DB:BTHS} Harvard Partners (USA)" "" "710_711delTG" "" "Unknown" "" "" "0" "" "" "g.154420668_154420669del" "" "pathogenic" "" "0000052678" "1" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000036" "g.153649015G>A" "" "{PMID:D\'Adamo 1997:09382096}" "" "" "" "Germline" "" "" "0" "" "" "g.154420676G>A" "" "pathogenic" "" "0000052679" "1" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000036" "g.153649015G>A" "" "{PMID:BIssler 2002:11896212}" "" "G1006A" "" "Germline" "" "" "0" "" "" "g.154420676G>A" "" "pathogenic" "" "0000052680" "1" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000036" "g.153649015G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Schlame 2003:14662265}" "" "" "CL 6" "Unknown" "" "" "0" "" "" "g.154420676G>A" "" "pathogenic" "" "0000052681" "1" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000036" "g.153649015G>A" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "" "0" "" "" "g.154420676G>A" "" "pathogenic" "" "0000052682" "1" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000026" "g.153649015G>C" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420676G>C" "" "pathogenic" "" "0000052683" "1" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000026" "g.153649015G>C" "" "{PMID:Man 2013:23345479}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420676G>C" "" "pathogenic" "" "0000052684" "1" "90" "X" "153649033" "153649034" "ins" "0" "00006" "TAZ_000180" "g.153649033_153649034insCCTC" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420694_154420695insCCTC" "" "pathogenic" "" "0000052685" "1" "90" "X" "153649035" "153649035" "dup" "0" "00006" "TAZ_000181" "g.153649035dup" "" "{DB:BTHS} - reported by family" "" "" "" "Unknown" "" "" "0" "" "" "g.154420696dup" "" "pathogenic" "" "0000052686" "1" "90" "X" "153649044" "153649045" "delins" "0" "00006" "TAZ_000182" "g.153649044_153649045delinsA" "" "{DB:BTHS} - reported by family" "" "747_747delCGinsA" "de novo from mother" "De novo" "" "rs794729172" "0" "" "" "g.154420705_154420706delinsA" "" "pathogenic" "" "0000052687" "1" "90" "X" "153649044" "153649045" "ins" "0" "00006" "TAZ_000183" "g.153649044_153649045insCGGGCGCCGGCGGCTCTCC" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420705_154420706insCGGGCGCCGGCGGCTCTCC" "" "pathogenic" "" "0000052688" "1" "90" "X" "153649045" "153649045" "subst" "0" "00006" "TAZ_000185" "g.153649045G>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Kirwin 2014:24342716}" "" "" "de novo from grandmother; CL6/MLCL5" "De novo" "" "" "0" "" "" "g.154420706G>T" "" "pathogenic" "" "0000052689" "1" "90" "X" "153649049" "153649049" "subst" "0" "00006" "TAZ_000186" "g.153649049G>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "TNNT2 His109Tyr VUS likely path" "Unknown" "" "" "0" "" "" "g.154420710G>T" "" "pathogenic" "" "0000052690" "1" "90" "X" "153649070" "153649070" "subst" "0" "00006" "TAZ_000189" "g.153649070C>A" "" "{DB:BTHS} Pennock/Williams (Bristol, UK)" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154420731C>A" "" "pathogenic" "" "0000052691" "1" "90" "X" "153649070" "153649070" "subst" "0" "00006" "TAZ_000189" "g.153649070C>A" "" "{DB:BTHS} AKrentz (Prevention Genetics, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420731C>A" "" "pathogenic" "" "0000052692" "1" "90" "X" "153649075" "153649075" "subst" "0" "00006" "TAZ_000190" "g.153649075G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420736G>A" "" "pathogenic" "" "0000052693" "1" "90" "X" "153649076" "153649076" "subst" "0" "00006" "TAZ_000031" "g.153649076T>A" "" "{PMID:Ichida 2001:11238270}, {PMID:Kenton 2004:15172004}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420737T>A" "" "pathogenic" "" "0000052694" "1" "90" "X" "153649240" "153649240" "subst" "0" "00006" "TAZ_000193" "g.153649240A>G" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420901A>G" "" "pathogenic" "" "0000052695" "1" "90" "X" "153649179" "153649191" "del" "0" "00006" "TAZ_000194" "g.153649179_153649191del" "" "{DB:BTHS} Bowles (Houston, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420840_154420852del" "" "pathogenic" "" "0000052696" "1" "90" "X" "153649241" "153649241" "subst" "0" "00006" "TAZ_000191" "g.153649241G>T" "" "{PMID:Rigaud 2013:23656970}" "" "" "CL6/MLCL5" "Germline" "" "" "0" "" "" "g.154420902G>T" "" "pathogenic" "" "0000052697" "1" "90" "X" "153649265" "153649268" "del" "0" "00006" "TAZ_000195" "g.153649265_153649268del" "" "{PMID:Tikhomirov 2008:HGOL}" "" "798-801delGACG" "" "Unknown" "" "" "0" "" "" "g.154420926_154420929del" "" "pathogenic" "" "0000052698" "1" "90" "X" "153649287" "153649287" "subst" "0" "00006" "TAZ_000196" "g.153649287C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420948C>T" "" "pathogenic" "" "0000052699" "1" "90" "X" "153649287" "153649287" "subst" "0" "00006" "TAZ_000196" "g.153649287C>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420948C>T" "" "pathogenic" "" "0000052700" "1" "90" "X" "153649301" "153649302" "del" "0" "00006" "TAZ_000198" "g.153649301_153649302del" "" "{DB:BTHS} Honeychurch/Williams (Bristol, UK), {PMID:Steward 2010:20812380}" "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154420962_154420963del" "" "pathogenic" "" "0000052701" "1" "90" "X" "153649339" "153649340" "dup" "0" "00006" "TAZ_000047" "g.153649339_153649340dup" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA), {PMID:Kirwin 2007:17241629}, {PMID:Kirwin 2014:24342716}" "" "873_874dupCCTGG" "de novo from grandparent; CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154421000_154421001dup" "" "pathogenic" "" "0000052702" "1" "90" "X" "153649337" "153649337" "del" "0" "00006" "TAZ_000201" "g.153649337del" "" "{PMID:Sweeney 2008:19037987}" "" "" "" "Unknown" "" "" "0" "" "" "g.154420998del" "" "pathogenic" "" "0000052703" "1" "90" "X" "153647881" "153649344" "del" "0" "00006" "TAZ_000000" "g.153647881_153649344del" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "Ex6_Ex11del" "de novo from grandfather\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000052704" "1" "90" "X" "153640180" "153649344" "del" "0" "00006" "TAZ_000000" "g.153640180_153649344del" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "complete deletion" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000052705" "1" "90" "X" "153641543" "153642528" "del" "0" "00006" "TAZ_000000" "g.153641543_153642528del" "" "{DB:BTHS} - reported by family" "" "Ex3_Ex5del" "de novo from mother\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000052706" "1" "90" "X" "153640180" "153641905" "del" "0" "00006" "TAZ_000000" "g.153640180_153641905del" "" "{DB:BTHS} - reported by family" "" "Ex1_Ex4del" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052707" "1" "90" "X" "153649241" "153649344" "del" "0" "00006" "TAZ_000000" "g.153649241_153649344del" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "Ex11_3\'UTRdel" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052708" "1" "90" "X" "153638793" "153653347" "del" "0" "00006" "TAZ_000005" "g.153638793_153653347del" "" "{PMID:Singh 2009:19396829}" "" "TAZ deletion" "complete deletion, Alu mediated, 15 kb" "Unknown" "" "" "0" "" "" "g.154410451_154425005del" "" "pathogenic" "" "0000052709" "1" "90" "X" "153640180" "153642528" "del" "0" "00006" "TAZ_000000" "g.153640180_153642528del" "" "{DB:BTHS} - reported by family" "" "Ex1_Ex5 del" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000052710" "1" "90" "X" "153640180" "153642528" "del" "0" "00006" "TAZ_000000" "g.153640180_153642528del" "" "{DB:BTHS} - reported by family" "" "Ex1_Ex5 del" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052711" "1" "90" "X" "153640180" "153642528" "del" "0" "00006" "TAZ_000000" "g.153640180_153642528del" "" "{DB:BTHS} - reported by family" "" "Ex1_Ex5 del" "DMD c.6463C>T p.Arg2155Trp\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052712" "1" "90" "X" "153640180" "153642528" "del" "0" "00006" "TAZ_000000" "g.153640180_153642528del" "" "{PMID:Rigaud 2013:23656970}" "" "Ex1_Ex5 del" "ring X-chromosome with Xq28 deletion (mosaic), incl. ex1-5; CL6/MLCL5\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052713" "1" "90" "X" "153640180" "153642528" "del" "0" "00006" "TAZ_000000" "g.153640180_153642528del" "" "{DB:BTHS} - reported by family" "" "Ex1_Ex5 del" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052714" "1" "90" "X" "153640181" "153641905" "del" "0" "00006" "TAZ_000000" "g.153640181_153641905del" "" "{DB:BTHS} Harvard Partners (USA)" "" "Ex1_Ex4del" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052715" "1" "90" "X" "153642885" "153651321" "del" "0" "00006" "TAZ_000116" "g.153642885_153651321del" "" "{PMID:Ferri 2013:23409742}" "" "g.8009_16445del8437 del ex6-11" "CL6/MLCL5\r\nVariant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.154414548_154422982del" "" "pathogenic" "" "0000052716" "1" "90" "X" "153644653" "153644690" "del" "0" "00006" "TAZ_000115" "g.153644653_153644690del" "" "{PMID:Ferri 2013:23409742}" "" "g.9777_9814del38" "" "Germline" "" "" "0" "" "" "g.154416314_154416351del" "" "pathogenic" "" "0000052717" "1" "90" "X" "153644787" "153649278" "del" "0" "00006" "TAZ_000206" "g.153644787_153649278del" "" "{PMID:Ferri 2013:23409742}" "" "g.(9898_9911)_14402del" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000052718" "1" "90" "X" "153647881" "153649344" "del" "0" "00006" "TAZ_000000" "g.153647881_153649344del" "" "{PMID:Rigaud 2013:23656970}" "" "Ex6_Ex11del" "CL6/MLCL5\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000052719" "1" "90" "X" "153647881" "153649344" "del" "0" "00006" "TAZ_000000" "g.153647881_153649344del" "" "{PMID:Rigaud 2013:23656970}" "" "Ex6_Ex11del" "de novo from mother; CL6/MLCL5\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000052720" "1" "90" "X" "153648370" "153648604" "del" "0" "00006" "TAZ_000000" "g.153648370_153648604del" "" "{PMID:Rigaud 2013:23656970}" "" "Ex8_Ex9del" "CL6/MLCL5\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000052721" "1" "70" "X" "153640164" "153640164" "subst" "0" "00006" "TAZ_000006" "g.153640164C>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154411827C>T" "" "likely pathogenic" "" "0000052722" "1" "70" "X" "153640193" "153640193" "subst" "3.47078E-5" "00006" "TAZ_000038" "g.153640193G>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "rs397515737" "0" "" "" "g.154411856G>T" "" "likely pathogenic" "" "0000052723" "1" "70" "X" "153641865" "153641865" "subst" "3.35771E-5" "00006" "TAZ_000099" "g.153641865C>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "MYH7 Arg369Gln (likely path) and several other variants" "Unknown" "" "rs200405157" "0" "" "" "g.154413528C>T" "" "likely pathogenic" "" "0000052724" "1" "70" "X" "153642425" "153642425" "subst" "0" "00006" "TAZ_000112" "g.153642425C>G" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "rs397515742" "0" "" "" "g.154414088C>G" "" "likely pathogenic" "" "0000052725" "1" "70" "X" "153648364" "153648364" "subst" "4.47415E-5" "00006" "TAZ_000153" "g.153648364T>C" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420025T>C" "" "likely pathogenic" "" "0000052726" "1" "70" "X" "153648561" "153648561" "subst" "5.03471E-5" "00006" "TAZ_000169" "g.153648561C>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "rs140751478" "0" "" "" "g.154420222C>T" "" "likely pathogenic" "" "0000052727" "1" "70" "X" "153648578" "153648578" "subst" "3.91602E-5" "00006" "TAZ_000171" "g.153648578C>T" "" "Exome Variant Server" "" "" "" "Unknown" "" "" "0" "" "" "g.154420239C>T" "" "likely pathogenic" "" "0000052728" "1" "70" "X" "153649058" "153649058" "subst" "0.000139855" "00006" "TAZ_000187" "g.153649058C>T" "" "" "" "" "" "Unknown" "" "rs200909606" "0" "" "" "g.154420719C>T" "" "likely pathogenic" "" "0000052729" "1" "70" "X" "153649218" "153649235" "delins" "0" "00006" "TAZ_000192" "g.153649218_153649235delinsA" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "" "0" "" "" "g.154420879_154420896delinsA" "" "likely pathogenic" "" "0000052730" "1" "10" "X" "153640061" "153640061" "del" "0.852654" "00006" "TAZ_000003" "g.153640061del" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "-119ins/del T" "" "Unknown" "" "rs11388353" "0" "" "" "" "" "benign" "" "0000052731" "1" "10" "X" "153640061" "153640061" "del" "0.852654" "00006" "TAZ_000003" "g.153640061del" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "-119ins/del T" "" "Unknown" "" "rs11388353" "0" "" "" "" "" "benign" "" "0000052732" "1" "10" "X" "153640093" "153640093" "subst" "0.00820993" "00006" "TAZ_000004" "g.153640093G>C" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "" "Unknown" "" "rs113130344" "0" "" "" "g.154411756G>C" "" "benign" "" "0000052733" "1" "10" "X" "153640093" "153640093" "subst" "0.00820993" "00006" "TAZ_000004" "g.153640093G>C" "3/380 chromosomes" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Germline" "" "rs113130344" "0" "" "" "g.154411756G>C" "" "benign" "" "0000052734" "1" "10" "X" "153640093" "153640093" "subst" "0.00820993" "00006" "TAZ_000004" "g.153640093G>C" "" "{DB:BTHS} MGZ (Munchen, Germany)" "" "" "" "Unknown" "" "rs113130344" "0" "" "" "g.154411756G>C" "" "benign" "" "0000052735" "1" "10" "X" "153640228" "153640228" "subst" "0" "00006" "TAZ_000126" "g.153640228C>G" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "MYBPC3 .Arg1226Leu likely path VUS" "Unknown" "" "rs397515743" "0" "" "" "g.154411891C>G" "" "benign" "" "0000052736" "1" "10" "X" "153640317" "153640317" "subst" "7.98653E-5" "00006" "TAZ_000015" "g.153640317C>T" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "rs397515736" "0" "" "" "g.154411980C>T" "" "benign" "" "0000052737" "1" "10" "X" "153640406" "153640406" "subst" "0.172719" "00006" "TAZ_000021" "g.153640406C>T" "" "{PMID:Gonzalez 2005:15793838}" "" "" "" "Unknown" "" "rs62617809" "0" "" "" "g.154412069=" "" "benign" "" "0000052738" "1" "10" "X" "153640406" "153640406" "subst" "0.172719" "00006" "TAZ_000021" "g.153640406C>T" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "no effect on splicing" "Unknown" "" "rs62617809" "0" "" "" "g.154412069=" "" "benign" "" "0000052739" "1" "10" "X" "153640406" "153640406" "subst" "0.172719" "00006" "TAZ_000021" "g.153640406C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs62617809" "0" "" "" "g.154412069=" "" "benign" "" "0000052740" "1" "10" "X" "153640436" "153640436" "subst" "3.4666E-5" "00006" "TAZ_000033" "g.153640436C>T" "" "" "" "" "" "Unknown" "" "rs368329470" "0" "" "" "g.154412099C>T" "" "benign" "" "0000052741" "1" "10" "X" "153641518" "153641518" "subst" "0" "00006" "TAZ_000079" "g.153641518C>A" "" "Taylor 2011 (Cardiogenetics 1:9-12)" "" "" "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." "Unknown" "" "rs199809512" "0" "" "" "g.154413181C>A" "" "benign" "" "0000052742" "1" "10" "X" "153641619" "153641619" "subst" "0.00488141" "00006" "TAZ_000088" "g.153641619C>T" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "" "Unknown" "" "rs41313420" "0" "" "" "g.154413282C>T" "" "benign" "" "0000052743" "1" "10" "X" "153641619" "153641619" "subst" "0.00488141" "00006" "TAZ_000088" "g.153641619C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs41313420" "0" "" "" "g.154413282C>T" "" "benign" "" "0000052744" "1" "50" "X" "153641855" "153641855" "subst" "0" "00006" "TAZ_000096" "g.153641855G>A" "" "" "" "" "" "Unknown" "" "rs143525004" "0" "" "" "g.154413518G>A" "" "VUS" "" "0000052745" "1" "10" "X" "153642166" "153642166" "subst" "0" "00006" "TAZ_000107" "g.153642166A>C" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "" "Unknown" "" "rs181382694" "0" "" "" "g.154413829A>C" "" "benign" "" "0000052746" "1" "10" "X" "153642166" "153642166" "subst" "0" "00006" "TAZ_000107" "g.153642166A>C" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs181382694" "0" "" "" "g.154413829A>C" "" "benign" "" "0000052747" "1" "10" "X" "153642236" "153642236" "subst" "0" "00006" "TAZ_000108" "g.153642236G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "no effect on splicing\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "g.154413899G>A" "" "benign" "" "0000052748" "1" "10" "X" "153642297" "153642297" "subst" "0" "00006" "TAZ_000113" "g.153642297G>A" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "" "Unknown" "" "rs5986977" "0" "" "" "g.154413960G>A" "" "benign" "" "0000052749" "1" "10" "X" "153642297" "153642297" "subst" "0" "00006" "TAZ_000113" "g.153642297G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs5986977" "0" "" "" "g.154413960G>A" "" "benign" "" "0000052750" "1" "10" "X" "153642450" "153642450" "subst" "0.00446358" "00006" "TAZ_000114" "g.153642450T>C" "" "{PMID:Xu 2009:19700766}" "" "" "multiple reports" "Unknown" "" "rs146934311" "0" "" "" "g.154414113T>C" "" "benign" "" "0000052751" "1" "10" "X" "153645605" "153645605" "subst" "0" "00006" "TAZ_000120" "g.153645605G>C" "1/52 individuals" "{PMID:Saunders 2005:16020776}" "" "" "" "Germline" "" "" "0" "" "" "g.154417266G>C" "" "benign" "" "0000052752" "1" "10" "X" "153645713" "153645713" "subst" "0" "00006" "TAZ_000119" "g.153645713G>T" "2/52 individuals" "{PMID:Saunders 2005:16020776}" "" "" "" "Germline" "" "" "0" "" "" "g.154417374G>T" "" "benign" "" "0000052753" "1" "10" "X" "153645842" "153645842" "subst" "0" "00006" "TAZ_000118" "g.153645842A>C" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "" "Unknown" "" "rs138096034" "0" "" "" "g.154417503A>C" "" "benign" "" "0000052754" "1" "10" "X" "153645842" "153645842" "subst" "0" "00006" "TAZ_000118" "g.153645842A>C" "1/52 individuals" "{PMID:Saunders 2005:16020776}" "" "" "" "Germline" "" "rs138096034" "0" "" "" "g.154417503A>C" "" "benign" "" "0000052755" "1" "10" "X" "153646292" "153646292" "subst" "0" "00006" "TAZ_000117" "g.153646292A>G" "1/52 individuals" "{PMID:Saunders 2005:16020776}" "" "" "" "Germline" "" "" "0" "" "" "g.154417953A>G" "" "benign" "" "0000052756" "1" "10" "X" "153647142" "153647142" "subst" "0" "00006" "TAZ_000122" "g.153647142G>A" "1/52 individuals" "{PMID:Saunders 2005:16020776}" "" "" "" "Germline" "" "" "0" "" "" "g.154418803G>A" "" "benign" "" "0000052757" "1" "10" "X" "153647836" "153647836" "subst" "0.00344758" "00006" "TAZ_000121" "g.153647836C>T" "" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "" "Unknown" "" "rs112760522" "0" "" "" "g.154419497C>T" "" "benign" "" "0000052758" "1" "10" "X" "153647836" "153647836" "subst" "0.00344758" "00006" "TAZ_000121" "g.153647836C>T" "" "{PMID:Saunders 2005:16020776}" "" "" "" "Unknown" "" "rs112760522" "0" "" "" "g.154419497C>T" "" "benign" "" "0000052759" "1" "10" "X" "153647836" "153647836" "subst" "0.00344758" "00006" "TAZ_000121" "g.153647836C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs112760522" "0" "" "" "g.154419497C>T" "" "benign" "" "0000052760" "1" "10" "X" "153648063" "153648063" "subst" "0" "00006" "TAZ_000139" "g.153648063C>T" "" "" "" "" "" "Unknown" "" "rs36005334" "0" "" "" "g.154419724C>T" "" "benign" "" "0000052761" "1" "10" "X" "153648069" "153648069" "subst" "3.35668E-5" "00006" "TAZ_000141" "g.153648069C>T" "" "Exome Variant Server" "" "" "" "Unknown" "" "rs141773967" "0" "" "" "g.154419730C>T" "" "benign" "" "0000052762" "1" "10" "X" "153648109" "153648109" "subst" "0" "00006" "TAZ_000147" "g.153648109A>T" "1/300 chromosomes" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Germline" "" "" "0" "" "" "g.154419770A>T" "" "benign" "" "0000052763" "1" "10" "X" "153648233" "153648233" "subst" "0" "00006" "TAZ_000145" "g.153648233G>A" "" "{PMID:Saunders 2005:16020776}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "rs73571581" "0" "" "" "g.154419894G>A" "" "benign" "" "0000052764" "1" "10" "X" "153648233" "153648233" "subst" "0" "00006" "TAZ_000145" "g.153648233G>A" "7/300 chromosomes" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "rs73571581" "0" "" "" "g.154419894G>A" "" "benign" "" "0000052765" "1" "10" "X" "153648095" "153648095" "subst" "3.35978E-5" "00006" "TAZ_000144" "g.153648095G>A" "" "{DB:BTHS} Harvard Partners (USA)" "" "" "" "Unknown" "" "rs370536414" "0" "" "" "g.154419756G>A" "" "benign" "" "0000052766" "1" "10" "X" "153648378" "153648378" "subst" "0" "00006" "TAZ_000156" "g.153648378G>T" "" "Exome Variant Server" "" "" "" "Unknown" "" "rs150583937" "0" "" "" "g.154420039G>T" "" "benign" "" "0000052767" "1" "10" "X" "153648432" "153648432" "subst" "1.11873E-5" "00006" "TAZ_000163" "g.153648432C>T" "" "Exome Variant Server" "" "" "" "Unknown" "" "rs374146054" "0" "" "" "g.154420093C>T" "" "benign" "" "0000052768" "1" "10" "X" "153648509" "153648509" "subst" "0.00223782" "00006" "TAZ_000165" "g.153648509C>T" "3/300 chromosomes" "{PMID:Gonzalez 2011:{DB:BTHS}}" "" "" "" "Germline" "" "rs73638278" "0" "" "" "g.154420170C>T" "" "benign" "" "0000052769" "1" "10" "X" "153648509" "153648509" "subst" "0.00223782" "00006" "TAZ_000165" "g.153648509C>T" "" "{PMID:Saunders 2005:16020776}" "" "" "" "Unknown" "" "rs73638278" "0" "" "" "g.154420170C>T" "" "benign" "" "0000052770" "1" "10" "X" "153648509" "153648509" "subst" "0.00223782" "00006" "TAZ_000165" "g.153648509C>T" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs73638278" "0" "" "" "g.154420170C>T" "" "benign" "" "0000052771" "1" "10" "X" "153648640" "153648640" "subst" "0" "00006" "TAZ_000166" "g.153648640C>T" "" "Exome Variant Server" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: 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." "Unknown" "" "rs200674881" "0" "" "" "g.154420301C>T" "" "benign" "" "0000052772" "1" "10" "X" "153648650" "153648650" "subst" "0" "00006" "TAZ_000177" "g.153648650G>A" "" "Exome Variant Server" "" "" "" "Unknown" "" "" "0" "" "" "g.154420311G>A" "" "benign" "" "0000052773" "1" "10" "X" "153649044" "153649044" "subst" "4.47525E-5" "00006" "TAZ_000184" "g.153649044C>T" "" "Exome Variant Server" "" "" "" "Unknown" "" "rs376379156" "0" "" "" "g.154420705C>T" "" "benign" "" "0000052774" "1" "10" "X" "153649068" "153649068" "subst" "5.59494E-6" "00006" "TAZ_000188" "g.153649068G>A" "" "Exome Variant Server" "" "" "" "Unknown" "" "rs368990588" "0" "" "" "g.154420729G>A" "" "benign" "" "0000052775" "1" "10" "X" "153649337" "153649337" "subst" "0.0035425" "00006" "TAZ_000202" "g.153649337G>A" "" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "" "" "Unknown" "" "rs35902788" "0" "" "" "g.154420998G>A" "" "benign" "" "0000052776" "1" "10" "X" "153649813" "153649813" "subst" "0.871104" "00006" "TAZ_000205" "g.153649813G>C" "0.086" "{DB:BTHS} Kiriwn/Gonzalez (Wilmington, USA)" "" "C>G 471 bp after Term" "" "Unknown" "" "" "0" "" "" "g.154421474=" "" "benign" "" "0000052777" "1" "90" "X" "153640553" "153640553" "subst" "0" "00006" "TAZ_000053" "g.153640553T>G" "" "{PMID:Johnston 1997:09345098}, {PMID:Schlame 2003:14662265}, {PMID:Gonzalez 2005:15793838}," "" "" "CL6/MLCL5" "Unknown" "" "" "0" "" "" "g.154412216T>G" "" "pathogenic" "" "0000052778" "1" "70" "X" "153642450" "153642450" "subst" "0.00446358" "00006" "TAZ_000114" "g.153642450T>C" "" "{PMID:Cortez-Dias 2009:19438153}" "" "" "" "Unknown" "" "" "0" "" "" "g.154414113T>C" "" "likely pathogenic" "" "0000052779" "1" "90" "X" "153640453" "153640465" "del" "0" "00006" "TAZ_000055" "g.153640453_153640465del" "" "{PMID:Valianpour 2002:12410207}" "" "428del13" "" "Unknown" "" "" "0" "" "" "g.154412116_154412128del" "" "pathogenic" "" "0000064417" "1" "90" "X" "153648376" "153648376" "subst" "0" "01164" "TAZ_000009" "g.153648376G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154420037G>A" "" "pathogenic" "" "0000064418" "1" "90" "X" "153648557" "153648560" "dup" "0" "01164" "TAZ_000168" "g.153648557_153648560dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.154420218_154420221dup" "" "pathogenic" "" "0000071840" "0" "70" "X" "153647956" "153647956" "subst" "5.59372E-6" "01337" "TAZ_000134" "g.153647956C>G" "" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "" "variant assumed de novo" "De novo" "" "" "0" "" "" "g.154419617C>G" "" "likely pathogenic" "" "0000079618" "21" "90" "X" "153565841" "154722429" "dup" "0" "00006" "DKC1_000000" "g.153565841_154722429dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "increased gene dosage" "Germline" "" "" "0" "" "" "g.154337626_155494214dup" "" "pathogenic" "" "0000248859" "0" "10" "X" "153629155" "153629155" "subst" "0.822944" "02325" "RPL10_000001" "g.153629155A>G" "" "" "" "RPL10(NM_006013.5):c.605A>G (p.N202S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400814=" "" "benign" "" "0000250519" "0" "90" "X" "153628171" "153628171" "subst" "0" "02329" "RPL10_000004" "g.153628171A>G" "" "" "" "RPL10(NM_001303625.1):c.218A>G (p.N73S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154399830A>G" "" "pathogenic" "" "0000251820" "0" "30" "X" "153641858" "153641858" "subst" "0" "02326" "TAZ_000211" "g.153641858A>G" "" "" "" "TAZ(NM_000116.5):c.324A>G (p.L108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413521A>G" "" "likely benign" "" "0000265380" "0" "10" "X" "153640406" "153640406" "subst" "0.172719" "02330" "TAZ_000021" "g.153640406C>T" "" "" "" "DNASE1L1(NM_001009932.2):c.-609G>A, TAFAZZIN(NM_000116.5):c.110-17C>T, TAZ(NM_000116.3):c.110-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412069=" "" "benign" "" "0000301502" "0" "30" "X" "153629248" "153629248" "subst" "0.000509708" "02326" "RPL10_000008" "g.153629248C>T" "" "" "" "RPL10(NM_001256577.2):c.535C>T (p.L179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400907C>T" "" "likely benign" "" "0000309048" "0" "10" "X" "153642450" "153642450" "subst" "0.00446358" "02330" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414113T>C" "" "benign" "" "0000309049" "0" "10" "X" "153648024" "153648024" "subst" "0.000391571" "02330" "TAZ_000215" "g.153648024C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.542-20C>T, TAZ(NM_000116.3):c.542-20C>T, TAZ(NM_000116.5):c.542-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154419685C>T" "" "benign" "" "0000309050" "0" "10" "X" "153648063" "153648063" "subst" "0" "02330" "TAZ_000139" "g.153648063C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.561C>T (p.S187=), TAZ(NM_000116.5):c.561C>T (p.S187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154419724C>T" "" "benign" "" "0000309051" "0" "10" "X" "153648381" "153648381" "subst" "0" "02330" "TAZ_000204" "g.153648381C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.594C>T (p.R198=), TAZ(NM_000116.5):c.594C>T (p.R198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420042C>T" "" "benign" "" "0000309052" "0" "10" "X" "153648447" "153648447" "subst" "0.000565086" "02330" "TAZ_000216" "g.153648447C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.646+14C>T, TAZ(NM_000116.3):c.646+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420108C>T" "" "benign" "" "0000309053" "0" "10" "X" "153649044" "153649044" "subst" "4.47525E-5" "02330" "TAZ_000184" "g.153649044C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.747C>T (p.L249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420705C>T" "" "benign" "" "0000309054" "0" "30" "X" "153649071" "153649071" "subst" "1.11918E-5" "02330" "TAZ_000221" "g.153649071G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.774G>A (p.S258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420732G>A" "" "likely benign" "" "0000309055" "0" "90" "X" "153649252" "153649258" "del" "0" "02330" "TAZ_000222" "g.153649252_153649258del" "" "" "" "TAFAZZIN(NM_000116.5):c.788_794delGGAAAGC (p.R263Pfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420913_154420919del" "" "pathogenic" "" "0000309056" "0" "10" "X" "153649337" "153649337" "subst" "0.0035425" "02330" "TAZ_000202" "g.153649337G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_001303465.1):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420998G>A" "" "benign" "" "0000311713" "0" "70" "X" "153641585" "153641585" "subst" "0" "02325" "TAZ_000007" "g.153641585C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.280C>T (p.R94C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413248C>T" "" "likely pathogenic" "" "0000311714" "0" "30" "X" "153641601" "153641601" "subst" "0" "02325" "TAZ_000210" "g.153641601T>A" "" "" "" "TAFAZZIN(NM_000116.5):c.284+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413264T>A" "" "likely benign" "" "0000311715" "0" "30" "X" "153641885" "153641885" "subst" "1.1198E-5" "02325" "TAZ_000212" "g.153641885G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.351G>A (p.K117=), TAZ(NM_000116.5):c.351G>A (p.K117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413548G>A" "" "likely benign" "" "0000311716" "0" "30" "X" "153642432" "153642432" "subst" "0" "02325" "TAZ_000213" "g.153642432C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.371-6C>A, TAZ(NM_000116.5):c.371-6C>A, TAZ(NM_001303465.1):c.426-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414095C>A" "" "likely benign" "" "0000311717" "0" "30" "X" "153648024" "153648024" "subst" "0.000391571" "02325" "TAZ_000215" "g.153648024C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.542-20C>T, TAZ(NM_000116.3):c.542-20C>T, TAZ(NM_000116.5):c.542-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154419685C>T" "" "likely benign" "" "0000311718" "0" "30" "X" "153648381" "153648381" "subst" "0" "02325" "TAZ_000204" "g.153648381C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.594C>T (p.R198=), TAZ(NM_000116.5):c.594C>T (p.R198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420042C>T" "" "likely benign" "" "0000311719" "0" "30" "X" "153648515" "153648515" "subst" "0.000145468" "02325" "TAZ_000217" "g.153648515C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.647-36C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420176C>T" "" "likely benign" "" "0000311720" "0" "30" "X" "153649044" "153649044" "subst" "4.47525E-5" "02325" "TAZ_000184" "g.153649044C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.747C>T (p.L249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420705C>T" "" "likely benign" "" "0000311721" "0" "30" "X" "153649337" "153649337" "subst" "0.0035425" "02325" "TAZ_000202" "g.153649337G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_001303465.1):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420998G>A" "" "likely benign" "" "0000314379" "0" "30" "X" "153642450" "153642450" "subst" "0.00446358" "02326" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414113T>C" "" "likely benign" "" "0000314380" "0" "30" "X" "153648024" "153648024" "subst" "0.000391571" "02326" "TAZ_000215" "g.153648024C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.542-20C>T, TAZ(NM_000116.3):c.542-20C>T, TAZ(NM_000116.5):c.542-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154419685C>T" "" "likely benign" "" "0000314381" "0" "70" "X" "153649015" "153649015" "subst" "0" "02326" "TAZ_000036" "g.153649015G>A" "" "" "" "TAZ(NM_000116.5):c.718G>A (p.G240R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420676G>A" "" "likely pathogenic" "" "0000314382" "0" "30" "X" "153649048" "153649048" "subst" "2.23764E-5" "02326" "TAZ_000220" "g.153649048C>T" "" "" "" "TAZ(NM_000116.5):c.751C>T (p.R251W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420709C>T" "" "likely benign" "" "0000314383" "0" "30" "X" "153649058" "153649058" "subst" "0.000139855" "02326" "TAZ_000187" "g.153649058C>T" "" "" "" "TAZ(NM_000116.5):c.761C>T (p.A254V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420719C>T" "" "likely benign" "" "0000314384" "0" "10" "X" "153649337" "153649337" "subst" "0.0035425" "02326" "TAZ_000202" "g.153649337G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_001303465.1):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420998G>A" "" "benign" "" "0000316225" "0" "10" "X" "153640406" "153640406" "subst" "0.172719" "01943" "TAZ_000021" "g.153640406C>T" "" "" "" "DNASE1L1(NM_001009932.2):c.-609G>A, TAFAZZIN(NM_000116.5):c.110-17C>T, TAZ(NM_000116.3):c.110-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412069=" "" "benign" "" "0000316226" "0" "10" "X" "153640417" "153640417" "subst" "1.15653E-5" "01943" "DNASE1L1_000028" "g.153640417C>T" "" "" "" "TAZ(NM_000116.3):c.110-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412080C>T" "" "benign" "" "0000316227" "0" "50" "X" "153640455" "153640455" "subst" "0" "01943" "TAZ_000207" "g.153640455G>A" "" "" "" "TAZ(NM_000116.3):c.142G>A (p.E48K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412118G>A" "" "VUS" "" "0000316228" "0" "10" "X" "153640579" "153640579" "subst" "0" "01943" "TAZ_000208" "g.153640579G>A" "" "" "" "TAZ(NM_000116.3):c.238+28G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154412242G>A" "" "benign" "" "0000316229" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "01943" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413222G>A" "" "VUS" "" "0000316230" "0" "90" "X" "153641586" "153641586" "subst" "0" "01943" "TAZ_000042" "g.153641586G>A" "" "" "" "TAZ(NM_000116.3):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413249G>A" "" "pathogenic" "" "0000316231" "0" "10" "X" "153641619" "153641619" "subst" "0.00488141" "01943" "TAZ_000088" "g.153641619C>T" "" "" "" "TAZ(NM_000116.3):c.284+30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154413282C>T" "" "benign" "" "0000316232" "0" "10" "X" "153642450" "153642450" "subst" "0.00446358" "01943" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414113T>C" "" "benign" "" "0000316233" "0" "50" "X" "153642523" "153642523" "subst" "5.7304E-6" "01943" "TAZ_000214" "g.153642523G>C" "" "" "" "TAZ(NM_000116.3):c.456G>C (p.E152D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154414186G>C" "" "VUS" "" "0000316234" "0" "30" "X" "153648024" "153648024" "subst" "0.000391571" "01943" "TAZ_000215" "g.153648024C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.542-20C>T, TAZ(NM_000116.3):c.542-20C>T, TAZ(NM_000116.5):c.542-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154419685C>T" "" "likely benign" "" "0000316235" "0" "30" "X" "153648447" "153648447" "subst" "0.000565086" "01943" "TAZ_000216" "g.153648447C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.646+14C>T, TAZ(NM_000116.3):c.646+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420108C>T" "" "likely benign" "" "0000316236" "0" "90" "X" "153648433" "153648433" "subst" "0" "01943" "TAZ_000025" "g.153648433G>A" "" "" "" "TAZ(NM_000116.3):c.646G>A (p.G216R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420094G>A" "" "pathogenic" "" "0000316237" "0" "50" "X" "153648578" "153648578" "subst" "3.91602E-5" "01943" "TAZ_000171" "g.153648578C>T" "" "" "" "TAZ(NM_000116.3):c.674C>T (p.P225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420239C>T" "" "VUS" "" "0000316238" "0" "50" "X" "153648579" "153648579" "subst" "0.000710482" "01943" "TAZ_000218" "g.153648579G>A" "" "" "" "TAZ(NM_001303465.1):c.688G>A (p.A230T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420240G>A" "" "VUS" "" "0000316239" "0" "30" "X" "153649044" "153649044" "subst" "0.000123069" "01943" "TAZ_000219" "g.153649044C>G" "" "" "" "TAZ(NM_000116.3):c.747C>G (p.L249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154420705C>G" "" "likely benign" "" "0000336222" "0" "30" "X" "153629183" "153629183" "subst" "0.00181343" "01804" "RPL10_000006" "g.153629183C>T" "" "" "" "RPL10(NM_001256577.1):c.470C>T (p.(Pro157Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400842C>T" "" "likely benign" "" "0000336225" "0" "50" "X" "153631291" "153631291" "subst" "1.13352E-5" "01804" "DNASE1L1_000023" "g.153631291C>T" "" "" "" "DNASE1L1(NM_001009932.1):c.766G>A (p.(Glu256Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154402950C>T" "" "VUS" "" "0000336226" "0" "50" "X" "153633161" "153633161" "subst" "5.21491E-5" "01804" "DNASE1L1_000024" "g.153633161G>C" "" "" "" "DNASE1L1(NM_001009932.1):c.311+8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154404820G>C" "" "VUS" "" "0000336228" "0" "50" "X" "153633896" "153633896" "subst" "0.0001505" "01804" "DNASE1L1_000026" "g.153633896G>A" "" "" "" "DNASE1L1(NM_001009932.1):c.14C>T (p.(Thr5Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154405555G>A" "" "VUS" "" "0000341976" "0" "70" "X" "153628933" "153628933" "subst" "0" "02327" "RPL10_000011" "g.153628933G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.154400592G>A" "" "likely pathogenic" "" "0000368356" "0" "30" "X" "153649071" "153649071" "subst" "1.11918E-5" "02438" "TAZ_000221" "g.153649071G>A" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs782273950" "0" "" "" "g.154420732G>A" "" "likely benign" "" "0000408062" "20" "90" "X" "153570408" "153861108" "dup" "0" "00006" "FLNA_000307" "g.153570408_153861108dup" "" "{PMID:Hu 2016:25644381}" "" "GDI1" "" "Germline" "" "" "0" "" "" "g.154342193_154632893dup" "" "pathogenic" "" "0000574833" "0" "50" "X" "153627842" "153627842" "subst" "0" "01943" "RPL10_000013" "g.153627842A>G" "" "" "" "RPL10(NM_001303625.1):c.97A>G (p.I33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154399501A>G" "" "VUS" "" "0000574834" "0" "50" "X" "153629115" "153629115" "subst" "0" "01804" "RPL10_000014" "g.153629115C>T" "" "" "" "RPL10(NM_006013.3):c.565C>T (p.(Arg189Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154400774C>T" "" "VUS" "" "0000574836" "0" "30" "X" "153633336" "153633336" "subst" "0.000164809" "01943" "DNASE1L1_000025" "g.153633336C>T" "" "" "" "DNASE1L1(NM_006730.3):c.224G>A (p.R75Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154404995C>T" "" "likely benign" "" "0000574837" "0" "50" "X" "153633782" "153633782" "subst" "0" "01943" "RPL10_000016" "g.153633782A>G" "" "" "" "DNASE1L1(NM_006730.3):c.128T>C (p.L43S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154405441A>G" "" "VUS" "" "0000574838" "0" "10" "X" "153640061" "153640061" "del" "0.852654" "02327" "RPL10_000017" "g.153640061del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000574839" "0" "10" "X" "153640061" "153640061" "dup" "0" "01943" "RPL10_000018" "g.153640061dup" "" "" "" "TAZ(NM_000116.3):c.-120dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000574840" "0" "10" "X" "153640093" "153640093" "subst" "0.00820993" "02327" "TAZ_000004" "g.153640093G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411756G>C" "" "benign" "" "0000574841" "0" "50" "X" "153640210" "153640210" "subst" "0" "02327" "RPL10_000019" "g.153640210C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411873C>A" "" "VUS" "" "0000574842" "0" "30" "X" "153640225" "153640225" "subst" "0" "02327" "RPL10_000020" "g.153640225C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411888C>T" "" "likely benign" "" "0000574843" "0" "30" "X" "153640394" "153640394" "subst" "0" "02327" "RPL10_000021" "g.153640394G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412057G>T" "" "likely benign" "" "0000574844" "0" "10" "X" "153640406" "153640406" "subst" "0.172719" "02327" "TAZ_000021" "g.153640406C>T" "" "" "" "DNASE1L1(NM_001009932.2):c.-609G>A, TAFAZZIN(NM_000116.5):c.110-17C>T, TAZ(NM_000116.3):c.110-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412069=" "" "benign" "" "0000574845" "0" "30" "X" "153640412" "153640412" "subst" "0" "02327" "RPL10_000022" "g.153640412T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412075T>C" "" "likely benign" "" "0000574846" "0" "30" "X" "153640417" "153640417" "subst" "1.15653E-5" "01804" "DNASE1L1_000028" "g.153640417C>T" "" "" "" "TAZ(NM_000116.3):c.110-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412080C>T" "" "likely benign" "" "0000574847" "0" "50" "X" "153640455" "153640455" "subst" "0" "02330" "RPL10_000023" "g.153640455G>C" "" "" "" "TAFAZZIN(NM_000116.5):c.142G>C (p.E48Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412118G>C" "" "VUS" "" "0000574848" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "02326" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413222G>A" "" "VUS" "" "0000574849" "0" "90" "X" "153641586" "153641586" "subst" "0" "02327" "TAZ_000042" "g.153641586G>A" "" "" "" "TAZ(NM_000116.3):c.281G>A (p.R94H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413249G>A" "" "pathogenic" "" "0000574851" "0" "30" "X" "153641858" "153641858" "subst" "0" "02327" "TAZ_000211" "g.153641858A>G" "" "" "" "TAZ(NM_000116.5):c.324A>G (p.L108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413521A>G" "" "likely benign" "" "0000574852" "0" "30" "X" "153641885" "153641885" "subst" "1.1198E-5" "02326" "TAZ_000212" "g.153641885G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.351G>A (p.K117=), TAZ(NM_000116.5):c.351G>A (p.K117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413548G>A" "" "likely benign" "" "0000574853" "0" "50" "X" "153641902" "153641902" "subst" "0" "02330" "RPL10_000024" "g.153641902G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.368G>A (p.R123Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413565G>A" "" "VUS" "" "0000574854" "0" "30" "X" "153642432" "153642432" "subst" "0" "02326" "TAZ_000213" "g.153642432C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.371-6C>A, TAZ(NM_000116.5):c.371-6C>A, TAZ(NM_001303465.1):c.426-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154414095C>A" "" "likely benign" "" "0000574856" "0" "10" "X" "153642450" "153642450" "subst" "0.00446358" "02327" "TAZ_000114" "g.153642450T>C" "" "" "" "TAFAZZIN(NM_000116.5):c.383T>C (p.F128S), TAZ(NM_000116.3):c.383T>C (p.F128S), TAZ(NM_000116.5):c.383T>C (p.F128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154414113T>C" "" "benign" "" "0000574858" "0" "30" "X" "153648364" "153648364" "del" "3.35565E-5" "02327" "DNASE1L1_000032" "g.153648364del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420025del" "" "likely benign" "" "0000574859" "0" "30" "X" "153648432" "153648432" "subst" "1.11873E-5" "02330" "TAZ_000163" "g.153648432C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.645C>T (p.V215=), TAFAZZIN(NM_001303465.2):c.658C>T (p.R220*), TAZ(NM_000116.5):c.645C>T (p.V215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420093C>T" "" "likely benign" "" "0000574860" "0" "30" "X" "153648432" "153648432" "subst" "1.11873E-5" "02326" "TAZ_000163" "g.153648432C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.645C>T (p.V215=), TAFAZZIN(NM_001303465.2):c.658C>T (p.R220*), TAZ(NM_000116.5):c.645C>T (p.V215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420093C>T" "" "likely benign" "" "0000574861" "0" "90" "X" "153648433" "153648433" "subst" "0" "02327" "TAZ_000025" "g.153648433G>A" "" "" "" "TAZ(NM_000116.3):c.646G>A (p.G216R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420094G>A" "" "pathogenic" "" "0000574862" "0" "30" "X" "153648452" "153648453" "ins" "0" "02327" "DNASE1L1_000034" "g.153648452_153648453insG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420113_154420114insG" "" "likely benign" "" "0000574863" "0" "30" "X" "153648479" "153648479" "subst" "0" "02327" "DNASE1L1_000035" "g.153648479G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420140G>C" "" "likely benign" "" "0000574864" "0" "30" "X" "153648482" "153648482" "subst" "0" "02327" "DNASE1L1_000036" "g.153648482T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420143T>G" "" "likely benign" "" "0000574865" "0" "30" "X" "153648497" "153648498" "delins" "0" "02327" "DNASE1L1_000037" "g.153648497_153648498delinsA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420158_154420159delinsA" "" "likely benign" "" "0000574866" "0" "30" "X" "153648523" "153648523" "subst" "5.59466E-6" "02327" "DNASE1L1_000038" "g.153648523G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420184G>T" "" "likely benign" "" "0000574867" "0" "30" "X" "153648525" "153648525" "subst" "0" "02327" "DNASE1L1_000039" "g.153648525C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420186C>T" "" "likely benign" "" "0000574868" "0" "50" "X" "153648606" "153648606" "subst" "0" "01943" "DNASE1L1_000040" "g.153648606G>T" "" "" "" "TAZ(NM_001303465.1):c.712+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420267G>T" "" "VUS" "" "0000574869" "0" "30" "X" "153649044" "153649044" "subst" "4.47525E-5" "02327" "TAZ_000184" "g.153649044C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.747C>T (p.L249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420705C>T" "" "likely benign" "" "0000574870" "0" "30" "X" "153649337" "153649337" "subst" "0.0035425" "01943" "TAZ_000202" "g.153649337G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_001303465.1):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420998G>A" "" "likely benign" "" "0000619311" "0" "50" "X" "153629244" "153629244" "subst" "8.88341E-5" "01943" "RPL10_000015" "g.153629244C>G" "" "" "" "RPL10(NM_001256577.2):c.531C>G (p.Y177*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154400903C>G" "" "VUS" "" "0000619312" "0" "50" "X" "153640224" "153640224" "subst" "0" "02327" "RPL10_000026" "g.153640224T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411887T>G" "" "VUS" "" "0000619313" "0" "50" "X" "153640225" "153640226" "ins" "0" "02327" "RPL10_000027" "g.153640225_153640226insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411888_154411889insT" "" "VUS" "" "0000619314" "0" "50" "X" "153640230" "153640230" "subst" "0" "02327" "RPL10_000028" "g.153640230G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411893G>T" "" "VUS" "" "0000619315" "0" "10" "X" "153640231" "153640231" "subst" "0" "02327" "RPL10_000029" "g.153640231G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411894G>C" "" "benign" "" "0000619316" "0" "50" "X" "153640232" "153640232" "subst" "0" "02327" "RPL10_000030" "g.153640232A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411895A>G" "" "VUS" "" "0000619317" "0" "30" "X" "153640233" "153640233" "subst" "0" "02327" "RPL10_000031" "g.153640233C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411896C>G" "" "likely benign" "" "0000619318" "0" "50" "X" "153640233" "153640233" "subst" "0" "02327" "RPL10_000032" "g.153640233C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154411896C>T" "" "VUS" "" "0000619319" "0" "50" "X" "153641880" "153641880" "subst" "0" "02327" "TAZ_000101" "g.153641880G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154413543G>C" "" "VUS" "" "0000619320" "0" "30" "X" "153648024" "153648024" "subst" "0.000391571" "02327" "TAZ_000215" "g.153648024C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.542-20C>T, TAZ(NM_000116.3):c.542-20C>T, TAZ(NM_000116.5):c.542-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154419685C>T" "" "likely benign" "" "0000619321" "0" "30" "X" "153648354" "153648354" "subst" "0" "02327" "DNASE1L1_000041" "g.153648354A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420015A>G" "" "likely benign" "" "0000619322" "0" "30" "X" "153648363" "153648363" "dup" "0" "02327" "DNASE1L1_000042" "g.153648363dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420024dup" "" "likely benign" "" "0000619323" "0" "50" "X" "153648432" "153648432" "subst" "1.11873E-5" "02325" "TAZ_000163" "g.153648432C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.645C>T (p.V215=), TAFAZZIN(NM_001303465.2):c.658C>T (p.R220*), TAZ(NM_000116.5):c.645C>T (p.V215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420093C>T" "" "VUS" "" "0000619324" "0" "30" "X" "153649243" "153649243" "subst" "2.8193E-5" "02327" "DNASE1L1_000043" "g.153649243T>G" "" "" "" "TAFAZZIN(NM_000116.5):c.779T>G (p.V260G), TAZ(NM_000116.5):c.779T>G (p.(Val260Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420904T>G" "" "likely benign" "" "0000619325" "0" "10" "X" "153649337" "153649337" "subst" "0.0035425" "02327" "TAZ_000202" "g.153649337G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_000116.5):c.873G>A (p.G291=), TAZ(NM_001303465.1):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154420998G>A" "" "benign" "" "0000624516" "0" "50" "X" "153633349" "153633349" "subst" "0" "01943" "RPL10_000025" "g.153633349G>A" "" "" "" "DNASE1L1(NM_006730.3):c.211C>T (p.R71*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154405008G>A" "" "VUS" "" "0000629281" "0" "90" "X" "153648592" "153648592" "dup" "0" "00006" "TAZ_000223" "g.153648592dup" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "684_685insC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.154420253dup" "" "pathogenic" "" "0000652840" "1" "90" "X" "153648996" "153648996" "subst" "0" "03575" "TAZ_000178" "g.153648996G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397515747}" "Germline" "" "rs397515747" "0" "" "" "g.154420657G>A" "" "pathogenic" "" "0000652841" "1" "30" "X" "153649044" "153649044" "subst" "0" "03575" "TAZ_000224" "g.153649044C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794729172}" "Germline" "" "rs794729172" "0" "" "" "g.154420705C>A" "" "likely benign" "" "0000659208" "0" "30" "X" "153628797" "153628797" "subst" "2.94355E-5" "01943" "RPL10_000005" "g.153628797C>T" "" "" "" "RPL10(NM_001303625.1):c.330-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154400456C>T" "" "likely benign" "" "0000659209" "0" "30" "X" "153640420" "153640420" "del" "0" "01943" "RPL10_000033" "g.153640420del" "" "" "" "TAZ(NM_001303465.1):c.165-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.154412083del" "" "likely benign" "" "0000682276" "0" "30" "X" "153647928" "153647928" "subst" "5.59303E-6" "02326" "TAZ_000129" "g.153647928C>T" "" "" "" "TAZ(NM_000116.5):c.507C>T (p.L169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682277" "0" "10" "X" "153648442" "153648442" "subst" "0" "02330" "DNASE1L1_000044" "g.153648442G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.646+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000682278" "0" "30" "X" "153649058" "153649058" "subst" "0.000139855" "02327" "TAZ_000187" "g.153649058C>T" "" "" "" "TAZ(NM_000116.5):c.761C>T (p.A254V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693472" "0" "30" "X" "153629158" "153629158" "subst" "0" "01943" "RPL10_000034" "g.153629158G>A" "" "" "" "RPL10(NM_001303625.1):c.608G>A (p.R203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693473" "0" "10" "X" "153648531" "153648531" "subst" "0" "02330" "DNASE1L1_000045" "g.153648531T>G" "" "" "" "TAFAZZIN(NM_000116.5):c.647-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000701677" "0" "70" "X" "153640521" "153640521" "subst" "0" "00006" "TAZ_000070" "g.153640521C>T" "1/740 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.154412184C>T" "" "likely pathogenic" "" "0000701678" "0" "90" "X" "153649015" "153649015" "subst" "0" "00006" "TAZ_000026" "g.153649015G>C" "1/740 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.154420676G>C" "" "pathogenic" "" "0000701679" "0" "50" "X" "153649049" "153649049" "subst" "0" "00006" "TAZ_000186" "g.153649049G>T" "1/740 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.154420710G>T" "" "VUS" "" "0000728660" "0" "30" "X" "153642432" "153642432" "subst" "0" "01943" "TAZ_000213" "g.153642432C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.371-6C>A, TAZ(NM_000116.5):c.371-6C>A, TAZ(NM_001303465.1):c.426-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728661" "0" "50" "X" "153649243" "153649243" "subst" "2.8193E-5" "02330" "DNASE1L1_000043" "g.153649243T>G" "" "" "" "TAFAZZIN(NM_000116.5):c.779T>G (p.V260G), TAZ(NM_000116.5):c.779T>G (p.(Val260Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000764710" "0" "70" "X" "153641905" "153641905" "del" "0" "00006" "TAZ_000225" "g.153641905del" "" "{PMID:Tsangaris 2011:21659346}" "" "688delG>C (R230AfsX9" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.154413568del" "" "likely pathogenic (recessive)" "" "0000764711" "0" "70" "X" "153641904" "153641904" "subst" "0" "00006" "TAZ_000110" "g.153641904G>C" "" "{PMID:Tsangaris 2011:21659346}" "" "688G>C (G124R)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.154413567G>C" "" "likely pathogenic (recessive)" "" "0000810148" "0" "30" "X" "153627745" "153627745" "subst" "4.47392E-5" "01943" "RPL10_000035" "g.153627745G>C" "" "" "" "RPL10(NM_001303625.1):c.82+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810149" "0" "50" "X" "153649265" "153649265" "subst" "1.68718E-5" "01943" "DNASE1L1_000046" "g.153649265G>A" "" "" "" "TAZ(NM_001303465.1):c.814G>A (p.D272N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856453" "0" "70" "X" "153640181" "153640181" "subst" "0" "02327" "RPL10_000036" "g.153640181A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856454" "0" "30" "X" "153648476" "153648477" "ins" "0" "02327" "DNASE1L1_000047" "g.153648476_153648477insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856455" "0" "10" "X" "153648509" "153648509" "subst" "0.00223782" "02327" "TAZ_000165" "g.153648509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856456" "0" "30" "X" "153649251" "153649251" "subst" "0" "02325" "DNASE1L1_000048" "g.153649251C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.787C>T (p.R263W), TAZ(NM_000116.3):c.787C>T (p.(Arg263Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867211" "0" "90" "X" "153640510" "153640510" "subst" "0" "02327" "RPL10_000037" "g.153640510T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000896030" "0" "70" "X" "153649264" "153649264" "subst" "0" "02325" "DNASE1L1_000049" "g.153649264C>G" "" "" "" "TAFAZZIN(NM_000116.5):c.800C>G (p.T267R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908860" "21" "90" "X" "153640551" "153640551" "subst" "0" "00006" "TAZ_000226" "g.153640551G>C" "" "{PMID:Bournazos 2022:34906502}" "" "" "exon skipping, cryptic splice donor; mother germline mosaicism" "Germline" "yes" "" "0" "" "" "g.154412214G>C" "" "pathogenic (recessive)" "" "0000915652" "0" "50" "X" "153640269" "153640269" "subst" "0" "02330" "RPL10_000038" "g.153640269C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.89C>T (p.T30I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915653" "0" "30" "X" "153649179" "153649191" "del" "0" "02326" "TAZ_000194" "g.153649179_153649191del" "" "" "" "TAZ(NM_000116.5):c.778-80_778-68delCACCCTCCCAGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000918198" "0" "90" "X" "153641882" "153641882" "subst" "0" "00006" "TAZ_000227" "g.153641882C>T" "" "{PMID:Mertes 2021:33483494}, {PMID:Yepez 2022:35379322}" "" "" "variant creates exonic splice site" "Germline/De novo (untested)" "" "" "0" "" "" "g.154413545C>T" "" "likely pathogenic (recessive)" "" "0000927295" "0" "10" "X" "153640410" "153640410" "subst" "0" "02330" "RPL10_000039" "g.153640410C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.110-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927296" "0" "30" "X" "153648063" "153648063" "subst" "0" "02326" "TAZ_000139" "g.153648063C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.561C>T (p.S187=), TAZ(NM_000116.5):c.561C>T (p.S187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931362" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "02325" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931363" "0" "50" "X" "153647933" "153647933" "subst" "0" "02326" "DNASE1L1_000050" "g.153647933A>G" "" "" "" "TAZ(NM_000116.5):c.512A>G (p.H171R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951715" "0" "30" "X" "153648381" "153648381" "subst" "0" "02326" "TAZ_000204" "g.153648381C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.594C>T (p.R198=), TAZ(NM_000116.5):c.594C>T (p.R198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006585" "0" "10" "X" "153641885" "153641885" "subst" "1.1198E-5" "02330" "TAZ_000212" "g.153641885G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.351G>A (p.K117=), TAZ(NM_000116.5):c.351G>A (p.K117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006586" "0" "50" "X" "153649251" "153649251" "subst" "0" "01804" "DNASE1L1_000048" "g.153649251C>T" "" "" "" "TAFAZZIN(NM_000116.5):c.787C>T (p.R263W), TAZ(NM_000116.3):c.787C>T (p.(Arg263Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016009" "0" "30" "X" "153640249" "153640249" "subst" "0" "02325" "RPL10_000040" "g.153640249C>A" "" "" "" "TAFAZZIN(NM_000116.5):c.69C>A (p.V23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027464" "0" "50" "X" "153642476" "153642476" "subst" "0" "02330" "RPL10_000041" "g.153642476G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.409G>A (p.V137I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044213" "0" "50" "X" "153641559" "153641559" "subst" "5.59901E-6" "02330" "TAZ_000209" "g.153641559G>A" "" "" "" "TAFAZZIN(NM_000116.5):c.254G>A (p.R85H), TAZ(NM_000116.3):c.254G>A (p.R85H), TAZ(NM_000116.5):c.254G>A (p.R85H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044214" "0" "50" "X" "153649243" "153649243" "subst" "2.8193E-5" "01804" "DNASE1L1_000043" "g.153649243T>G" "" "" "" "TAFAZZIN(NM_000116.5):c.779T>G (p.V260G), TAZ(NM_000116.5):c.779T>G (p.(Val260Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 TAZ ## Count = 490 "{{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}}" "0000003346" "00000946" "30" "-121" "0" "-121" "0" "c.-121del" "r.(?)" "p.(=)" "1" "0000008072" "00000946" "30" "1349" "0" "1349" "0" "c.*470G>C" "r.(?)" "p.(=)" "11" "0000010252" "00000946" "30" "1349" "0" "1349" "0" "c.*470G>C" "r.(?)" "p.(=)" "11" "0000011332" "00000946" "30" "-121" "0" "-121" "0" "c.-121del" "r.(?)" "p.(=)" "1" "0000036033" "00000946" "30" "594" "0" "594" "0" "c.594C>T" "r.(=)" "p.(=)" "8" "0000052440" "00000946" "90" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.Ser110Pro" "4" "0000052441" "00000946" "90" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.Gly80Arg" "2" "0000052442" "00000946" "90" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.Gly80Glu" "3" "0000052443" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.Arg94Cys" "3" "0000052444" "00000946" "90" "280" "0" "280" "0" "c.280C>A" "r.(?)" "p.Arg94Ser" "3" "0000052445" "00000946" "90" "302" "0" "302" "0" "c.302A>T" "r.(?)" "p.Asp101Val" "4" "0000052446" "00000946" "90" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.Asn40Asp" "2" "0000052447" "00000946" "90" "349" "0" "349" "0" "c.349A>G" "r.(?)" "p.Lys117Glu" "4" "0000052448" "00000946" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.Gly116Asp" "4" "0000052449" "00000946" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.Gly216Arg" "8" "0000052450" "00000946" "90" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.Gly240Arg" "10" "0000052451" "00000946" "90" "207" "0" "207" "0" "c.207C>G" "r.(?)" "p.His69Gln" "2" "0000052452" "00000946" "90" "635" "0" "635" "0" "c.635T>C" "r.(?)" "p.Leu212Pro" "8" "0000052453" "00000946" "90" "506" "0" "506" "0" "c.506T>A" "r.(?)" "p.Leu169His" "6" "0000052454" "00000946" "90" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.Leu82Pro" "3" "0000052455" "00000946" "90" "170" "0" "170" "0" "c.170G>T" "r.(?)" "p.Arg57Leu" "2" "0000052456" "00000946" "90" "310" "0" "310" "0" "c.310T>G" "r.(?)" "p.Phe104Val" "4" "0000052457" "00000946" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.Gly161Arg" "6" "0000052458" "00000946" "90" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.Ser71Pro" "2" "0000052459" "00000946" "90" "532" "0" "532" "0" "c.532T>A" "r.(?)" "p.Phe178Ile" "6" "0000052460" "00000946" "90" "548" "0" "548" "0" "c.548T>G" "r.(?)" "p.Val183Gly" "7" "0000052461" "00000946" "90" "626" "0" "626" "0" "c.626T>A" "r.(?)" "p.Ile209Asn" "8" "0000052462" "00000946" "90" "629" "0" "629" "0" "c.629T>G" "r.(?)" "p.Leu210Arg" "8" "0000052463" "00000946" "90" "9" "0" "9" "0" "c.9dup" "r.(?)" "p.(His4Alafs*130)" "1" "0000052464" "00000946" "90" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Trp17*)" "1" "0000052465" "00000946" "90" "51" "0" "51" "0" "c.51G>A" "r.(?)" "p.(Trp17*)" "1" "0000052466" "00000946" "90" "54" "0" "55" "0" "c.54_55del" "r.54_55del" "p.Leu19Glyfs*114" "1" "0000052467" "00000946" "90" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Ser21Ile)" "1" "0000052468" "00000946" "90" "83" "0" "85" "0" "c.83_85del" "r.(?)" "p.(Val28del)" "1" "0000052469" "00000946" "90" "83" "0" "83" "0" "c.83T>A" "r.(?)" "p.(Val28Glu)" "1" "0000052470" "00000946" "90" "86" "0" "86" "0" "c.86G>A" "r.(?)" "p.(Gly29Asp)" "1" "0000052471" "00000946" "90" "109" "1" "109" "1" "c.109+1G>C" "r.[109_110ins109+1_109+54]" "p.Lys37Ser_Tyr38ins18" "1i" "0000052472" "00000946" "90" "109" "5" "109" "5" "c.109+5G>A" "r.[109_110ins109+1_109+54]" "p.Lys37Ser_Tyr38ins18" "1i" "0000052473" "00000946" "90" "109" "5" "109" "5" "c.109+5G>C" "r.[109_110ins109+1_109+54]" "p.Lys37Ser_Tyr38ins18" "1i" "0000052474" "00000946" "90" "109" "6" "109" "6" "c.109+6T>C" "r.spl" "p.(=)" "1i" "0000052475" "00000946" "90" "110" "-2" "110" "-2" "c.110-2A>G" "r.[110_238del, (110_111del)]" "p.[Lys37_Gly80del, Lys37fs]" "1i" "0000052476" "00000946" "90" "110" "-2" "110" "-2" "c.110-2A>G" "r.spl" "p.?" "1i" "0000052477" "00000946" "90" "110" "-2" "110" "-2" "c.110-2A>G" "r.spl" "p.?" "1i" "0000052478" "00000946" "90" "110" "-1" "110" "-1" "c.110-1G>C" "r.spl" "p.?" "1i" "0000052479" "00000946" "90" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Asn40Asp)" "2" "0000052480" "00000946" "90" "118" "0" "118" "0" "c.118A>G" "r.(?)" "p.(Asn40Asp)" "2" "0000052481" "00000946" "90" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Leu42*)" "2" "0000052482" "00000946" "90" "124" "0" "124" "0" "c.124del" "r.(?)" "p.(Leu42*)" "2" "0000052483" "00000946" "90" "127" "0" "127" "0" "c.127A>C" "r.(?)" "p.(Thr43Pro)" "2" "0000052484" "00000946" "90" "140" "0" "152" "0" "c.140_152del" "r.140_152del" "p.Arg47Thrfs*32" "2" "0000052485" "00000946" "90" "140" "0" "152" "0" "c.140_152del" "r.(?)" "p.Arg47Thrfs*32" "2" "0000052486" "00000946" "90" "143" "0" "143" "0" "c.143delinsGG" "r.(?)" "p.(Glu48Glyfs*86)" "2" "0000052487" "00000946" "90" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Leu50Pro)" "2" "0000052488" "00000946" "90" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Leu50Pro)" "2" "0000052489" "00000946" "90" "149" "0" "149" "0" "c.149T>C" "r.(?)" "p.(Leu50Pro)" "2" "0000052490" "00000946" "90" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(Tyr51*)" "2" "0000052491" "00000946" "90" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(Tyr51*)" "2" "0000052492" "00000946" "90" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(Tyr51*)" "2" "0000052493" "00000946" "90" "157" "0" "157" "0" "c.157dup" "r.(?)" "p.(Leu53Profs*81)" "2" "0000052494" "00000946" "90" "161" "0" "161" "0" "c.161T>A" "r.(?)" "p.(Ile54Asn)" "2" "0000052495" "00000946" "90" "163" "0" "163" "0" "c.163G>T" "r.(?)" "p.(Glu55*)" "2" "0000052496" "00000946" "90" "170" "0" "170" "0" "c.170G>T" "r.(?)" "p.(Arg57Leu)" "2" "0000052497" "00000946" "90" "170" "0" "170" "0" "c.170G>T" "r.(?)" "p.(Arg57Leu)" "2" "0000052498" "00000946" "90" "171" "0" "171" "0" "c.171del" "r.171del" "p.Gly58Alafs*25" "2" "0000052499" "00000946" "90" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "2" "0000052500" "00000946" "90" "207" "0" "207" "0" "c.207C>G" "r.(?)" "p.(His69Gln)" "2" "0000052501" "00000946" "90" "207" "0" "207" "0" "c.207C>G" "r.(?)" "p.(His69Gln)" "2" "0000052502" "00000946" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "2" "0000052503" "00000946" "90" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.(Ser71Pro)" "2" "0000052504" "00000946" "90" "211" "0" "211" "0" "c.211T>C" "r.(?)" "p.(Ser71Pro)" "2" "0000052505" "00000946" "90" "216" "0" "216" "0" "c.216C>A" "r.(?)" "p.(Cys72*)" "2" "0000052506" "00000946" "90" "222" "0" "222" "0" "c.222C>G" "r.(?)" "p.(Asp74Glu)" "2" "0000052507" "00000946" "90" "223" "0" "223" "0" "c.223G>C" "r.(?)" "p.(Asp75His)" "2" "0000052508" "00000946" "90" "227" "0" "227" "0" "c.227del" "r.(?)" "p.(Pro76Leufs*7)" "2" "0000052509" "00000946" "90" "236" "0" "236" "0" "c.236G>A" "r.236g>a" "p.Trp79*" "2" "0000052510" "00000946" "90" "238" "0" "238" "0" "c.238G>A" "r.[238_239ins238+1_238+36, =, 110_238del, ..]" "p.[Gly80Ser_Ile81ins(12), =, Lys37_Gly80delinsArg]" "2" "0000052511" "00000946" "90" "238" "0" "238" "0" "c.238G>A" "r.[238_239ins238+1_238+36, =, 110_238del, ..]" "p.[Gly80Ser_Ile81ins(12), =, Lys37_Gly80delinsArg]" "2" "0000052512" "00000946" "90" "238" "0" "238" "0" "c.238G>A" "r.[238_239ins238+1_238+36, =, 110_238del, ..]" "p.[Gly80Ser_Ile81ins(12), =, Lys37_Gly80delinsArg]" "2" "0000052513" "00000946" "90" "238" "0" "238" "0" "c.238G>A" "r.spl" "p.(Gly80Arg)" "2" "0000052514" "00000946" "90" "238" "2" "238" "2" "c.238+2T>G" "r.[110_238del, 238_239ins238+1_238+36, ..]" "p.[Lys37_Gly80del, Gly80Ser_Ile81ins(12)]" "2i" "0000052515" "00000946" "90" "239" "-1" "239" "-1" "c.239-1G>A" "r.spl" "p.?" "2i" "0000052516" "00000946" "90" "239" "-1" "239" "-1" "c.239-1G>C" "r.spl" "p.?" "2i" "0000052517" "00000946" "90" "239" "-1" "239" "-1" "c.239-1G>C" "r.spl" "p.?" "2i" "0000052518" "00000946" "90" "239" "-1" "239" "-1" "c.239-1G>C" "r.spl" "p.?" "2i" "0000052519" "00000946" "90" "239" "0" "239" "0" "c.239G>A" "r.spl?" "p.(Gly80Glu)" "3" "0000052520" "00000946" "90" "239" "0" "240" "0" "c.239_240insC" "r.(?)" "p.(Ile81Aspfs*53)" "3" "0000052521" "00000946" "90" "245" "0" "245" "0" "c.245T>C" "r.(?)" "p.(Leu82Pro)" "3" "0000052522" "00000946" "90" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Arg85Cys)" "3" "0000052523" "00000946" "90" "264" "0" "264" "0" "c.264G>A" "r.(?)" "p.(Trp88*)" "3" "0000052524" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.280c>u" "p.Arg94Cys" "3" "0000052525" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "3" "0000052526" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "3" "0000052527" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "3" "0000052528" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.280c>u" "p.Arg94Cys" "3" "0000052529" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "3" "0000052530" "00000946" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "3" "0000052531" "00000946" "90" "280" "0" "280" "0" "c.280C>G" "r.(?)" "p.(Arg94Gly)" "3" "0000052532" "00000946" "90" "280" "0" "280" "0" "c.280C>G" "r.(?)" "p.(Arg94Gly)" "3" "0000052533" "00000946" "90" "280" "0" "280" "0" "c.280C>A" "r.(?)" "p.(Arg94Ser)" "3" "0000052534" "00000946" "90" "280" "0" "280" "0" "c.280C>A" "r.(?)" "p.(Arg94Ser)" "3" "0000052535" "00000946" "90" "280" "0" "280" "0" "c.280C>A" "r.(?)" "p.(Arg94Ser)" "3" "0000052536" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052537" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052538" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052539" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052540" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052541" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052542" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052543" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052544" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052545" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000052546" "00000946" "90" "281" "0" "281" "0" "c.281delinsCT" "r.(?)" "p.(Arg94Profs*40)" "3" "0000052547" "00000946" "90" "284" "1" "284" "1" "c.284+1dup" "r.spl?" "p.(Thr96Aspfs*37)" "3" "0000052548" "00000946" "90" "284" "1" "284" "1" "c.284+1G>C" "r.spl" "p.?" "3i" "0000052549" "00000946" "90" "284" "3" "284" "3" "c.284+3G>T" "r.spl" "p.?" "3i" "0000052550" "00000946" "90" "284" "110" "284" "110" "c.284+110G>A" "r.[284_285ins284+1_284+106]" "p.Thr96*" "3i" "0000052551" "00000946" "90" "285" "0" "285" "0" "c.285G>A" "r.(?)" "p.(Trp95*)" "4" "0000052552" "00000946" "90" "294" "0" "294" "0" "c.(294delins)" "r.(?)" "p.fs" "4" "0000052553" "00000946" "90" "302" "0" "302" "0" "c.302A>T" "r.(?)" "p.(Asp101Val)" "4" "0000052554" "00000946" "90" "302" "0" "302" "0" "c.302A>T" "r.(?)" "p.(Asp101Val)" "4" "0000052555" "00000946" "90" "307" "0" "307" "0" "c.307T>C" "r.(?)" "p.(Cys103Arg)" "4" "0000052556" "00000946" "90" "310" "0" "310" "0" "c.310T>G" "r.(?)" "p.(Phe104Val)" "4" "0000052557" "00000946" "90" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Phe104Leu)" "4" "0000052558" "00000946" "90" "329" "0" "334" "0" "c.329_334del" "r.(?)" "p.(Ser110_His111del)" "4" "0000052559" "00000946" "90" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Ser110Pro)" "4" "0000052560" "00000946" "90" "328" "0" "328" "0" "c.328T>C" "r.(?)" "p.(Ser110Pro)" "4" "0000052561" "00000946" "90" "337" "0" "339" "0" "c.337_339del" "r.(?)" "p.(Phe113del)" "4" "0000052562" "00000946" "90" "337" "0" "339" "0" "c.337_339del" "r.(?)" "p.(Phe113del)" "4" "0000052563" "00000946" "90" "346" "0" "346" "0" "c.346G>C" "r.(?)" "p.(Gly116Arg)" "4" "0000052564" "00000946" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "4" "0000052565" "00000946" "90" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "4" "0000052566" "00000946" "90" "349" "0" "349" "0" "c.349A>G" "r.(?)" "p.(Lys117Glu)" "4" "0000052567" "00000946" "90" "352" "0" "352" "0" "c.352T>C" "r.(?)" "p.(Cys118Arg)" "4" "0000052568" "00000946" "90" "352" "0" "352" "0" "c.352T>C" "r.(?)" "p.(Cys118Arg)" "4" "0000052569" "00000946" "90" "352" "0" "352" "0" "c.352T>C" "r.(?)" "p.(Cys118Arg)" "4" "0000052570" "00000946" "90" "356" "0" "356" "0" "c.356T>G" "r.(?)" "p.(Val119Gly)" "4" "0000052571" "00000946" "90" "358" "0" "358" "0" "c.358C>A" "r.(?)" "p.(Pro120Thr)" "4" "0000052572" "00000946" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123*)" "4" "0000052573" "00000946" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123*)" "4" "0000052574" "00000946" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123*)" "4" "0000052575" "00000946" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123*)" "4" "0000052576" "00000946" "90" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(Arg123*)" "4" "0000052577" "00000946" "90" "370" "0" "370" "0" "c.370G>A" "r.spl?" "p.(Gly124Arg)" "4" "0000052578" "00000946" "90" "370" "0" "370" "0" "c.370G>C" "r.spl?" "p.(Gly124Arg)" "4" "0000052579" "00000946" "90" "370" "0" "370" "0" "c.370G>T" "r.spl?" "p.(Gly124Ter)" "4" "0000052580" "00000946" "90" "478" "0" "478" "0" "c.478A>T" "r.(?)" "p.(Lys160*)" "6" "0000052581" "00000946" "90" "478" "0" "478" "0" "c.478A>T" "r.(?)" "p.(Lys160*)" "6" "0000052582" "00000946" "90" "479" "0" "479" "0" "c.479del" "r.(?)" "p.(Lys160Argfs*24)" "6" "0000052583" "00000946" "90" "481" "0" "481" "0" "c.481G>A" "r.(?)" "p.(Gly161Arg)" "6" "0000052584" "00000946" "90" "497" "0" "497" "0" "c.497T>A" "r.(?)" "p.(Leu166*)" "6" "0000052585" "00000946" "90" "506" "0" "506" "0" "c.506T>A" "r.(?)" "p.(Leu169His)" "6" "0000052586" "00000946" "90" "507" "0" "507" "0" "c.507C>T" "r.spl" "p.(Leu169=)" "6" "0000052587" "00000946" "90" "517" "0" "517" "0" "c.517del" "r.517del" "p.Asp173Thrfs*11" "6" "0000052588" "00000946" "90" "517" "0" "517" "0" "c.517del" "r.(?)" "p.(Asp173Thrfs*11)" "6" "0000052589" "00000946" "90" "520" "0" "520" "0" "c.520T>G" "r.(?)" "p.(Trp174Gly)" "6" "0000052590" "00000946" "90" "532" "0" "532" "0" "c.532T>A" "r.(?)" "p.(Phe178Ile)" "6" "0000052591" "00000946" "90" "532" "0" "532" "0" "c.532T>C" "r.(?)" "p.(Phe178Leu)" "6" "0000052592" "00000946" "90" "535" "0" "535" "0" "c.535C>G" "r.(?)" "p.(Pro179Ala)" "6" "0000052593" "00000946" "90" "536" "0" "536" "0" "c.536del" "r.461_541del" "p.Asp155_Gly181del" "6" "0000052594" "00000946" "90" "541" "1" "541" "1" "c.541+1G>T" "r.spl" "p.?" "6i" "0000052595" "00000946" "90" "541" "1" "541" "1" "c.541+1G>A" "r.spl" "p.?" "6i" "0000052596" "00000946" "90" "542" "-6" "548" "0" "c.542-6_548del" "r.spl" "p.?" "6i_7" "0000052597" "00000946" "90" "548" "0" "548" "0" "c.548T>G" "r.(?)" "p.(Val183Gly)" "7" "0000052598" "00000946" "90" "553" "0" "553" "0" "c.553A>G" "r.[541_542ins541+1_542-1, ..]" "p.Lys182Glnfs*4" "7" "0000052599" "00000946" "90" "553" "0" "553" "0" "c.553A>G" "r.[541_542ins541+1_542-1, 553_583del]" "p.Lys182Glnfs*4" "7" "0000052600" "00000946" "90" "553" "0" "553" "0" "c.553A>G" "r.spl" "p.(Met185Val)" "7" "0000052601" "00000946" "90" "562" "0" "562" "0" "c.562G>T" "r.(?)" "p.(Glu188*)" "7" "0000052602" "00000946" "30" "578" "0" "578" "0" "c.578A>T" "r.(?)" "p.(Lys193Met)" "7" "0000052603" "00000946" "90" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Glu188Lys)" "7" "0000052604" "00000946" "90" "580" "0" "580" "0" "c.580dup" "r.(?)" "p.(Trp194Leufs*9)" "7" "0000052605" "00000946" "90" "580" "0" "580" "0" "c.580dup" "r.(?)" "p.(Trp194Leufs*9)" "7" "0000052606" "00000946" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "7" "0000052607" "00000946" "90" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Trp194*)" "7" "0000052608" "00000946" "90" "583" "0" "583" "0" "c.583G>T" "r.(?)" "p.(Gly195*)" "7" "0000052609" "00000946" "90" "583" "0" "583" "0" "c.583G>A" "r.spl?" "p.Gly195Arg" "7" "0000052610" "00000946" "90" "583" "1" "583" "1" "c.583+1G>T" "r.spl" "p.?" "7i" "0000052611" "00000946" "90" "583" "2" "583" "2" "c.583+2T>C" "r.spl" "p.?" "7i" "0000052612" "00000946" "90" "583" "5" "583" "5" "c.583+5G>A" "r.spl" "p.?" "7i" "0000052613" "00000946" "90" "583" "5" "583" "5" "c.583+5G>A" "r.spl" "p.?" "7i" "0000052614" "00000946" "90" "583" "5" "583" "5" "c.583+5G>A" "r.spl" "p.?" "7i" "0000052615" "00000946" "90" "584" "0" "584" "0" "c.584G>T" "r.=" "p.Gly195Val" "8" "0000052616" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "8" "0000052617" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "8" "0000052618" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "8" "0000052619" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "8" "0000052620" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "8" "0000052621" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "8" "0000052622" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "8" "0000052623" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" 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"p.(Glu107=)" "4" "0000052745" "00000946" "10" "370" "262" "370" "262" "c.370+262A>C" "r.(=)" "p.(=)" "4i" "0000052746" "00000946" "10" "370" "262" "370" "262" "c.370+262A>C" "r.(=)" "p.(=)" "4i" "0000052747" "00000946" "10" "370" "332" "370" "332" "c.370+332G>A" "r.=" "p.=" "4i" "0000052748" "00000946" "10" "371" "-141" "371" "-141" "c.371-141G>A" "r.(=)" "p.(=)" "4i" "0000052749" "00000946" "10" "371" "-141" "371" "-141" "c.371-141G>A" "r.(=)" "p.(=)" "4i" "0000052750" "00000946" "10" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Phe128Ser)" "5" "0000052751" "00000946" "10" "461" "-2277" "461" "-2277" "c.461-2277G>C" "r.(=)" "p.(=)" "5i" "0000052752" "00000946" "10" "461" "-2169" "461" "-2169" "c.461-2169G>T" "r.(=)" "p.(=)" "5i" "0000052753" "00000946" "10" "461" "-2040" "461" "-2040" "c.461-2040A>C" "r.(=)" "p.(=)" "5i" "0000052754" "00000946" "10" "461" "-2040" "461" "-2040" "c.461-2040A>C" "r.(=)" "p.(=)" "5i" "0000052755" "00000946" "10" "461" "-1590" "461" "-1590" "c.461-1590A>G" "r.(=)" "p.(=)" "5i" "0000052756" "00000946" "10" "461" "-740" "461" "-740" "c.461-740G>A" "r.(=)" "p.(=)" "5i" "0000052757" "00000946" "10" "461" "-46" "461" "-46" "c.461-46C>T" "r.(=)" "p.(=)" "5i" "0000052758" "00000946" "10" "461" "-46" "461" "-46" "c.461-46C>T" "r.(=)" "p.(=)" "5i" "0000052759" "00000946" "10" "461" "-46" "461" "-46" "c.461-46C>T" "r.(=)" "p.(=)" "5i" "0000052760" "00000946" "10" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Ser187=)" "7" "0000052761" "00000946" "10" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(Phe189=)" "7" "0000052762" "00000946" "10" "583" "24" "583" "24" "c.583+24A>T" "r.(=)" "p.(=)" "7i" "0000052763" "00000946" "10" "583" "148" "583" "148" "c.583+148G>A" "r.(=)" "p.(=)" "7i" "0000052764" "00000946" "10" "583" "148" "583" "148" "c.583+148G>A" "r.(=)" "p.(=)" "7i" "0000052765" "00000946" "10" "583" "10" "583" "10" "c.583+10G>A" "r.(=)" "p.(=)" "7i" "0000052766" "00000946" "10" "591" "0" "591" "0" "c.591G>T" "r.(?)" "p.(Gly197=)" "8" "0000052767" "00000946" "10" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Val215=)" "8" "0000052768" "00000946" "10" "647" "-42" "647" "-42" "c.647-42C>T" "r.(=)" "p.(=)" "8i" "0000052769" "00000946" "10" "647" "-42" "647" "-42" "c.647-42C>T" "r.(=)" "p.(=)" "8i" "0000052770" "00000946" "10" "647" "-42" "647" "-42" "c.647-42C>T" "r.(=)" "p.(=)" "8i" "0000052771" "00000946" "10" "647" "89" "647" "89" "c.647+89C>T" "r.(=)" "p.(=)" "8i" "0000052772" "00000946" "10" "699" "47" "699" "47" "c.699+47G>A" "r.(=)" "p.(=)" "9i" "0000052773" "00000946" "10" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Leu249=)" "10" "0000052774" "00000946" "10" "771" "0" "771" "0" "c.771G>A" "r.(?)" "p.(Lys257=)" "10" "0000052775" "00000946" "10" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Gly291=)" "11" "0000052776" "00000946" "10" "1349" "0" "1349" "0" "c.*470G>C" "r.(?)" "p.(?)" "11" "0000052777" "00000946" "90" "238" "2" "238" "2" "c.238+2T>G" "r.[110_238del]" "p.Lys37_Gly80del" "2i" "0000052778" "00000946" "70" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Phe128Ser)" "5" "0000052779" "00000946" "90" "140" "0" "152" "0" "c.140_152del" "r.(?)" "p.Arg47Thrfs*32" "2" "0000064417" "00000946" "90" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "" "0000064418" "00000946" "90" "653" "0" "656" "0" "c.653_656dup" "r.(?)" "p.(Asp219Glufs*2)" "" "0000071840" "00000946" "70" "535" "0" "535" "0" "c.535C>G" "r.(?)" "p.(Pro179Ala)" "" "0000079618" "00000946" "00" "-74340" "0" "1073965" "0" "c.-74340_*1073086dup" "" "" "" "0000248859" "00000946" "10" "-11026" "0" "-11026" "0" "c.-11026A>G" "r.(?)" "p.(=)" "" "0000250519" "00000946" "90" "-12010" "0" "-12010" "0" "c.-12010A>G" "r.(?)" "p.(=)" "" "0000251820" "00000946" "30" "324" "0" "324" "0" "c.324A>G" "r.(?)" "p.(Leu108=)" "" "0000265380" "00000946" "10" "110" "-17" "110" "-17" "c.110-17C>T" "r.(=)" "p.(=)" "" "0000301502" "00000946" "30" "-10933" "0" "-10933" "0" "c.-10933C>T" "r.(?)" "p.(=)" "" "0000309048" "00000946" "10" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Phe128Ser)" "" "0000309049" "00000946" "10" "542" "-20" "542" "-20" "c.542-20C>T" "r.(=)" "p.(=)" "" "0000309050" "00000946" "10" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Ser187=)" "" "0000309051" "00000946" "10" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Arg198=)" "" "0000309052" "00000946" "10" "646" "14" "646" "14" "c.646+14C>T" "r.(=)" "p.(=)" "" "0000309053" "00000946" "10" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Leu249=)" "" "0000309054" "00000946" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Ser258=)" "" "0000309055" "00000946" "90" "788" "0" "794" "0" "c.788_794del" "r.(?)" "p.(Arg263ProfsTer2)" "" "0000309056" "00000946" "10" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Gly291=)" "" "0000311713" "00000946" "70" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "" "0000311714" "00000946" "30" "284" "12" "284" "12" "c.284+12T>A" "r.(=)" "p.(=)" "" "0000311715" "00000946" "30" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Lys117=)" "" "0000311716" "00000946" "30" "371" "-6" "371" "-6" "c.371-6C>A" "r.(=)" "p.(=)" "" "0000311717" "00000946" "30" "542" "-20" "542" "-20" "c.542-20C>T" "r.(=)" "p.(=)" "" "0000311718" "00000946" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Arg198=)" "" "0000311719" "00000946" "30" "647" "-36" "647" "-36" "c.647-36C>T" "r.(=)" "p.(=)" "" "0000311720" "00000946" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Leu249=)" "" "0000311721" "00000946" "30" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Gly291=)" "" "0000314379" "00000946" "30" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Phe128Ser)" "" "0000314380" "00000946" "30" "542" "-20" "542" "-20" "c.542-20C>T" "r.(=)" "p.(=)" "" "0000314381" "00000946" "70" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Gly240Arg)" "" "0000314382" "00000946" "30" "751" "0" "751" "0" "c.751C>T" "r.(?)" "p.(Arg251Trp)" "" "0000314383" "00000946" "30" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Ala254Val)" "" "0000314384" "00000946" "10" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Gly291=)" "" "0000316225" "00000946" "10" "110" "-17" "110" "-17" "c.110-17C>T" "r.(=)" "p.(=)" "" "0000316226" "00000946" "10" "110" "-6" "110" "-6" "c.110-6C>T" "r.(=)" "p.(=)" "" "0000316227" "00000946" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "" "0000316228" "00000946" "10" "238" "28" "238" "28" "c.238+28G>A" "r.(=)" "p.(=)" "" "0000316229" "00000946" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0000316230" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000316231" "00000946" "10" "284" "30" "284" "30" "c.284+30C>T" "r.(=)" "p.(=)" "" "0000316232" "00000946" "10" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Phe128Ser)" "" "0000316233" "00000946" "50" "456" "0" "456" "0" "c.456G>C" "r.(?)" "p.(Glu152Asp)" "" "0000316234" "00000946" "30" "542" "-20" "542" "-20" "c.542-20C>T" "r.(=)" "p.(=)" "" "0000316235" "00000946" "30" "646" "14" "646" "14" "c.646+14C>T" "r.(=)" "p.(=)" "" "0000316236" "00000946" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "" "0000316237" "00000946" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" "" "0000316238" "00000946" "50" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Pro225=)" "" "0000316239" "00000946" "30" "747" "0" "747" "0" "c.747C>G" "r.(?)" "p.(Leu249=)" "" "0000336222" "00000946" "30" "-10998" "0" "-10998" "0" "c.-10998C>T" "r.(?)" "p.(=)" "" "0000336225" "00000946" "50" "-8890" "0" "-8890" "0" "c.-8890C>T" "r.(?)" "p.(=)" "" "0000336226" "00000946" "50" "-7020" "0" "-7020" "0" "c.-7020G>C" "r.(?)" "p.(=)" "" "0000336228" "00000946" "50" "-6285" "0" "-6285" "0" "c.-6285G>A" "r.(?)" "p.(=)" "" "0000341976" "00000946" "70" "-11248" "0" "-11248" "0" "c.-11248G>A" "r.(?)" "p.(=)" "" "0000368356" "00000946" "30" "774" "0" "774" "0" "c.774G>A" "r.(?)" "p.(Ser258=)" "10" "0000408062" "00000946" "00" "-69773" "0" "212644" "0" "c.-69773_*211765dup" "r.0?" "p.0?" "" "0000574833" "00000946" "50" "-12339" "0" "-12339" "0" "c.-12339A>G" "r.(?)" "p.(=)" "" "0000574834" "00000946" "50" "-11066" "0" "-11066" "0" "c.-11066C>T" "r.(?)" "p.(=)" "" "0000574836" "00000946" "30" "-6845" "0" "-6845" "0" "c.-6845C>T" "r.(?)" "p.(=)" "" "0000574837" "00000946" "50" "-6399" "0" "-6399" "0" "c.-6399A>G" "r.(?)" "p.(=)" "" "0000574838" "00000946" "10" "-120" "0" "-120" "0" "c.-120del" "r.(?)" "p.(=)" "" "0000574839" "00000946" "10" "-120" "0" "-120" "0" "c.-120dup" "r.(?)" "p.(=)" "" "0000574840" "00000946" "10" "-88" "0" "-88" "0" "c.-88G>C" "r.(?)" "p.(=)" "" "0000574841" "00000946" "50" "30" "0" "30" "0" "c.30C>A" "r.(?)" "p.(Pro10=)" "" "0000574842" "00000946" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Leu15=)" "" "0000574843" "00000946" "30" "110" "-29" "110" "-29" "c.110-29G>T" "r.(=)" "p.(=)" "" "0000574844" "00000946" "10" "110" "-17" "110" "-17" "c.110-17C>T" "r.(=)" "p.(=)" "" "0000574845" "00000946" "30" "110" "-11" "110" "-11" "c.110-11T>C" "r.(=)" "p.(=)" "" "0000574846" "00000946" "30" "110" "-6" "110" "-6" "c.110-6C>T" "r.(=)" "p.(=)" "" "0000574847" "00000946" "50" "142" "0" "142" "0" "c.142G>C" "r.(?)" "p.(Glu48Gln)" "" "0000574848" "00000946" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0000574849" "00000946" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000574851" "00000946" "30" "324" "0" "324" "0" "c.324A>G" "r.(?)" "p.(Leu108=)" "" "0000574852" "00000946" "30" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Lys117=)" "" "0000574853" "00000946" "50" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Arg123Gln)" "" "0000574854" "00000946" "30" "371" "-6" "371" "-6" "c.371-6C>A" "r.(=)" "p.(=)" "" "0000574856" "00000946" "10" "383" "0" "383" "0" "c.383T>C" "r.(?)" "p.(Phe128Ser)" "" "0000574858" "00000946" "30" "584" "-7" "584" "-7" "c.584-7del" "r.(=)" "p.(=)" "" "0000574859" "00000946" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Val215=)" "" "0000574860" "00000946" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Val215=)" "" "0000574861" "00000946" "90" "646" "0" "646" "0" "c.646G>A" "r.(?)" "p.(Gly216Arg)" "" "0000574862" "00000946" "30" "646" "19" "646" "20" "c.646+19_646+20insG" "r.(=)" "p.(=)" "" "0000574863" "00000946" "30" "646" "46" "646" "46" "c.646+46G>C" "r.(=)" "p.(=)" "" "0000574864" "00000946" "30" "646" "49" "646" "49" "c.646+49T>G" "r.(=)" "p.(=)" "" "0000574865" "00000946" "30" "647" "-54" "647" "-53" "c.647-54_647-53delinsA" "r.(=)" "p.(=)" "" "0000574866" "00000946" "30" "647" "-28" "647" "-28" "c.647-28G>T" "r.(=)" "p.(=)" "" "0000574867" "00000946" "30" "647" "-26" "647" "-26" "c.647-26C>T" "r.(=)" "p.(=)" "" "0000574868" "00000946" "50" "699" "3" "699" "3" "c.699+3G>T" "r.spl?" "p.?" "" "0000574869" "00000946" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Leu249=)" "" "0000574870" "00000946" "30" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Gly291=)" "" "0000619311" "00000946" "50" "-10937" "0" "-10937" "0" "c.-10937C>G" "r.(?)" "p.(=)" "" "0000619312" "00000946" "50" "44" "0" "44" "0" "c.44T>G" "r.(?)" "p.(Leu15Arg)" "" "0000619313" "00000946" "50" "45" "0" "46" "0" "c.45_46insT" "r.(?)" "p.(Thr16TyrfsTer118)" "" "0000619314" "00000946" "50" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Trp17Leu)" "" "0000619315" "00000946" "10" "51" "0" "51" "0" "c.51G>C" "r.(?)" "p.(Trp17Cys)" "" "0000619316" "00000946" "50" "52" "0" "52" "0" "c.52A>G" "r.(?)" "p.(Thr18Ala)" "" "0000619317" "00000946" "30" "53" "0" "53" "0" "c.53C>G" "r.(?)" "p.(Thr18Ser)" "" "0000619318" "00000946" "50" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Thr18Ile)" "" "0000619319" "00000946" "50" "346" "0" "346" "0" "c.346G>C" "r.(?)" "p.(Gly116Arg)" "" "0000619320" "00000946" "30" "542" "-20" "542" "-20" "c.542-20C>T" "r.(=)" "p.(=)" "" "0000619321" "00000946" "30" "584" "-17" "584" "-17" "c.584-17A>G" "r.(=)" "p.(=)" "" "0000619322" "00000946" "30" "584" "-8" "584" "-8" "c.584-8dup" "r.(=)" "p.(=)" "" "0000619323" "00000946" "50" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Val215=)" "" "0000619324" "00000946" "30" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Val260Gly)" "" "0000619325" "00000946" "10" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Gly291=)" "" "0000624516" "00000946" "50" "-6832" "0" "-6832" "0" "c.-6832G>A" "r.(?)" "p.(=)" "" "0000629281" "00000946" "90" "688" "0" "688" "0" "c.688dup" "r.(?)" "p.(Arg230Profs*81)" "" "0000652840" "00000946" "90" "700" "-1" "700" "-1" "c.700-1G>A" "r.spl?" "p.?" "" "0000652841" "00000946" "30" "747" "0" "747" "0" "c.747C>A" "r.(=)" "p.(=)" "" "0000659208" "00000946" "30" "-11384" "0" "-11384" "0" "c.-11384C>T" "r.(?)" "p.(=)" "" "0000659209" "00000946" "30" "110" "-3" "110" "-3" "c.110-3del" "r.spl?" "p.?" "" "0000682276" "00000946" "30" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Leu169=)" "" "0000682277" "00000946" "10" "646" "9" "646" "9" "c.646+9G>A" "r.(=)" "p.(=)" "" "0000682278" "00000946" "30" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Ala254Val)" "" "0000693472" "00000946" "30" "-11023" "0" "-11023" "0" "c.-11023G>A" "r.(?)" "p.(=)" "" "0000693473" "00000946" "10" "647" "-20" "647" "-20" "c.647-20T>G" "r.(=)" "p.(=)" "" "0000701677" "00000946" "70" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Gln70*)" "" "0000701678" "00000946" "90" "718" "0" "718" "0" "c.718G>C" "r.(?)" "p.(Gly240Arg)" "" "0000701679" "00000946" "50" "752" "0" "752" "0" "c.752G>T" "r.(?)" "p.(Arg251Leu)" "" "0000728660" "00000946" "30" "371" "-6" "371" "-6" "c.371-6C>A" "r.(=)" "p.(=)" "" "0000728661" "00000946" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Val260Gly)" "" "0000764710" "00000946" "70" "370" "1" "370" "1" "c.370+1del" "r.spl" "p.?" "" "0000764711" "00000946" "70" "370" "0" "370" "0" "c.370G>C" "r.spl?" "p.(Gly124Arg)" "" "0000810148" "00000946" "30" "-12436" "0" "-12436" "0" "c.-12436G>C" "r.(?)" "p.(=)" "" "0000810149" "00000946" "50" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Thr267=)" "" "0000856453" "00000946" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000856454" "00000946" "30" "646" "43" "646" "44" "c.646+43_646+44insT" "r.(=)" "p.(=)" "" "0000856455" "00000946" "10" "647" "-42" "647" "-42" "c.647-42C>T" "r.(=)" "p.(=)" "" "0000856456" "00000946" "30" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263Trp)" "" "0000867211" "00000946" "90" "197" "0" "197" "0" "c.197T>A" "r.(?)" "p.(Val66Glu)" "" "0000896030" "00000946" "70" "800" "0" "800" "0" "c.800C>G" "r.(?)" "p.(Thr267Arg)" "" "0000908860" "00000946" "90" "238" "0" "238" "0" "c.238G>C" "r.[110_238del,238_239ins[238+1_238+36]]" "p.[Lys37_Gly80delinsArg,Trp79_Gly80insArgThrArgAlaSerValLeuGlyArgGlyArgLys]" "" "0000915652" "00000946" "50" "89" "0" "89" "0" "c.89C>T" "r.(?)" "p.(Thr30Ile)" "" "0000915653" "00000946" "30" "778" "-63" "778" "-51" "c.778-63_778-51del" "r.(=)" "p.(=)" "" "0000918198" "00000946" "90" "348" "0" "348" "0" "c.348C>T" "r.347_370del" "p.Lys117_Gly124del" "" "0000927295" "00000946" "10" "110" "-13" "110" "-13" "c.110-13C>T" "r.(=)" "p.(=)" "" "0000927296" "00000946" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Ser187=)" "" "0000931362" "00000946" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0000931363" "00000946" "50" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(His171Arg)" "" "0000951715" "00000946" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Arg198=)" "" "0001006585" "00000946" "10" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Lys117=)" "" "0001006586" "00000946" "50" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Arg263Trp)" "" "0001016009" "00000946" "30" "69" "0" "69" "0" "c.69C>A" "r.(?)" "p.(=)" "" "0001027464" "00000946" "50" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Val137Ile)" "" "0001044213" "00000946" "50" "254" "0" "254" "0" "c.254G>A" "r.(?)" "p.(Arg85His)" "" "0001044214" "00000946" "50" "779" "0" "779" "0" "c.779T>G" "r.(?)" "p.(Val260Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 338 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003346" "0000000209" "0000008072" "0000000210" "0000010252" "0000000210" "0000011332" "0000016265" "0000036033" "0000029089" "0000052463" "0000029090" "0000052464" "0000029091" "0000052465" "0000029092" "0000052466" "0000029093" "0000052467" "0000029094" "0000052468" "0000029095" "0000052469" "0000029096" "0000052470" "0000029097" "0000052471" "0000029098" "0000052472" "0000029099" "0000052473" "0000029100" "0000052474" "0000029101" "0000052475" "0000029102" "0000052476" "0000029103" "0000052477" "0000029104" "0000052478" "0000029105" "0000052479" "0000029106" "0000052480" "0000029107" "0000052481" "0000029108" "0000052482" "0000029109" "0000052483" "0000029110" "0000052484" "0000029111" "0000052485" "0000029112" "0000052486" "0000029113" "0000052487" "0000029114" "0000052488" "0000029115" "0000052489" "0000029116" "0000052490" "0000029117" "0000052491" "0000029118" "0000052492" "0000029119" "0000052493" "0000029120" "0000052494" "0000029121" "0000052495" "0000029122" "0000052496" "0000029123" "0000052497" "0000029124" "0000052498" "0000029125" "0000052499" "0000029126" "0000052500" "0000029127" "0000052501" "0000029128" "0000052502" "0000029129" "0000052503" "0000029130" "0000052504" "0000029131" "0000052505" "0000029132" "0000052506" "0000029133" "0000052507" "0000029134" "0000052508" "0000029135" "0000052509" "0000029136" "0000052510" "0000029137" "0000052511" "0000029138" "0000052512" "0000029139" "0000052513" "0000029140" "0000052514" "0000029141" "0000052515" "0000029142" "0000052516" "0000029143" "0000052517" "0000029144" "0000052518" "0000029145" "0000052519" "0000029146" "0000052520" "0000029147" "0000052521" "0000029148" "0000052522" "0000029149" "0000052523" "0000029150" "0000052524" "0000029151" "0000052525" "0000029152" "0000052526" "0000029153" "0000052527" "0000029154" "0000052528" "0000029155" "0000052529" "0000029156" "0000052530" "0000029157" "0000052531" "0000029158" "0000052532" "0000029159" "0000052533" "0000029160" "0000052534" "0000029161" "0000052535" "0000029162" "0000052536" "0000029163" "0000052537" "0000029164" "0000052538" "0000029165" "0000052539" "0000029166" "0000052540" "0000029167" "0000052541" "0000029168" "0000052542" "0000029169" "0000052543" "0000029170" "0000052544" "0000029171" "0000052545" "0000029172" "0000052546" "0000029173" "0000052547" "0000029174" "0000052548" "0000029175" "0000052549" "0000029176" "0000052550" "0000029177" "0000052551" "0000029178" "0000052552" "0000029179" "0000052553" "0000029180" "0000052554" "0000029181" "0000052555" "0000029182" "0000052556" "0000029183" "0000052557" "0000029184" "0000052558" "0000029185" "0000052559" "0000029186" "0000052560" "0000029187" "0000052561" "0000029188" "0000052562" "0000029189" "0000052563" "0000029190" "0000052564" "0000029191" "0000052565" "0000029192" "0000052566" "0000029193" "0000052567" "0000029194" "0000052568" "0000029195" "0000052569" "0000029196" "0000052570" "0000029197" "0000052571" "0000029198" "0000052572" "0000029199" "0000052573" "0000029200" "0000052574" "0000029201" "0000052575" "0000029202" "0000052576" "0000029203" "0000052577" "0000029204" "0000052578" "0000029205" "0000052579" "0000029206" "0000052580" "0000029207" "0000052581" "0000029208" "0000052582" "0000029209" "0000052583" "0000029210" "0000052584" "0000029211" "0000052585" "0000029212" "0000052586" "0000029213" "0000052587" "0000029214" "0000052588" "0000029215" "0000052589" "0000029216" "0000052590" "0000029217" "0000052591" "0000029218" "0000052592" "0000029219" "0000052593" "0000029220" "0000052594" "0000029221" "0000052595" "0000029222" "0000052596" "0000029223" "0000052597" "0000029224" "0000052598" "0000029225" "0000052599" "0000029226" "0000052600" "0000029227" "0000052601" "0000029227" "0000052602" "0000029228" "0000052603" "0000029229" "0000052604" "0000029230" "0000052605" "0000029231" "0000052606" "0000029232" "0000052607" "0000029233" "0000052608" "0000029234" "0000052609" "0000029235" "0000052610" "0000029236" "0000052611" "0000029237" "0000052612" "0000029238" "0000052613" "0000029239" "0000052614" "0000029240" "0000052615" "0000029241" "0000052616" "0000029242" "0000052617" "0000029243" "0000052618" "0000029244" "0000052619" "0000029245" "0000052620" "0000029246" "0000052621" "0000029247" "0000052622" "0000029248" "0000052623" "0000029249" "0000052624" "0000029250" "0000052625" "0000029251" "0000052626" "0000029252" "0000052627" "0000029253" "0000052628" "0000029254" "0000052629" "0000029255" "0000052630" "0000029256" "0000052631" "0000029257" "0000052632" "0000029258" "0000052633" "0000029259" "0000052634" "0000029260" "0000052635" "0000029261" "0000052636" "0000029262" "0000052637" "0000029263" "0000052638" "0000029264" "0000052639" "0000029265" "0000052640" "0000029266" "0000052641" "0000029267" "0000052642" "0000029268" "0000052643" "0000029269" "0000052644" "0000029270" "0000052645" "0000029271" "0000052646" "0000029272" "0000052647" "0000029273" "0000052648" "0000029274" "0000052649" "0000029275" "0000052650" "0000029276" "0000052651" "0000029277" "0000052652" "0000029278" "0000052653" "0000029279" "0000052654" "0000029280" "0000052655" "0000029281" "0000052656" "0000029282" "0000052657" "0000029283" "0000052658" "0000029284" "0000052659" "0000029285" "0000052660" "0000029286" "0000052661" "0000029287" "0000052662" "0000029288" "0000052663" "0000029289" "0000052664" "0000029290" "0000052665" "0000029291" "0000052666" "0000029292" "0000052667" "0000029293" "0000052668" "0000029294" "0000052669" "0000029295" "0000052670" "0000029296" "0000052671" "0000029297" "0000052672" "0000029298" "0000052673" "0000029299" "0000052674" "0000029300" "0000052675" "0000029301" "0000052676" "0000029302" "0000052677" "0000029303" "0000052678" "0000029304" "0000052679" "0000029305" "0000052680" "0000029306" "0000052681" "0000029307" "0000052682" "0000029308" 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"0000029346" "0000052722" "0000029347" "0000052723" "0000029348" "0000052724" "0000029349" "0000052725" "0000029350" "0000052726" "0000029351" "0000052727" "0000029352" "0000052728" "0000029353" "0000052729" "0000029354" "0000052730" "0000029355" "0000052731" "0000029356" "0000052732" "0000029357" "0000052733" "0000029358" "0000052734" "0000029359" "0000052735" "0000029360" "0000052736" "0000029361" "0000052737" "0000029362" "0000052738" "0000029363" "0000052739" "0000029364" "0000052740" "0000029365" "0000052741" "0000029366" "0000052742" "0000029367" "0000052743" "0000029368" "0000052744" "0000029369" "0000052745" "0000029370" "0000052746" "0000029371" "0000052747" "0000029372" "0000052748" "0000029373" "0000052749" "0000029374" "0000052750" "0000029375" "0000052751" "0000029376" "0000052752" "0000029377" "0000052753" "0000029378" "0000052754" "0000029379" "0000052755" "0000029380" "0000052756" "0000029381" "0000052757" "0000029382" "0000052758" "0000029383" "0000052759" "0000029384" "0000052760" "0000029385" "0000052761" "0000029386" "0000052762" "0000029387" "0000052763" "0000029388" "0000052764" "0000029389" "0000052765" "0000029390" "0000052766" "0000029391" "0000052767" "0000029392" "0000052768" "0000029393" "0000052769" "0000029394" "0000052770" "0000029395" "0000052771" "0000029396" "0000052772" "0000029397" "0000052773" "0000029398" "0000052774" "0000029399" "0000052775" "0000029400" "0000052776" "0000029401" "0000052777" "0000029402" "0000052778" "0000029403" "0000052779" "0000037292" "0000064417" "0000037293" "0000064418" "0000044033" "0000071840" "0000050638" "0000079618" "0000164760" "0000368356" "0000184093" "0000408062" "0000275317" "0000629281" "0000296151" "0000652840" "0000296152" "0000652841" "0000319071" "0000701677" "0000319072" "0000701678" "0000319073" "0000701679" "0000364000" "0000764710" "0000364001" "0000764711" "0000429387" "0000908860" "0000432648" "0000918198"