### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FH) # 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}}" "FH" "fumarate hydratase" "1" "q42.1" "unknown" "NG_012338.1" "UD_132118632523" "" "https://www.LOVD.nl/FH" "" "1" "3700" "2271" "136850" "1" "1" "1" "1" "This database is one of the TCA cycle gene variant databases (formerly SDH Complex databases)\r\nCITATION: if you benefit from the use of this database and publish findings, please cite; Bayley JP, Launonen V, Tomlinson IP (2008). BMC Med Genet. 9:20.\r\nThe variants included in the database were derived from the published literature and, where necessary, annotated to conform to current HGVS mutation nomenclature. (Note: Some variants have not yet been definitively assigned to a standard location due to the use of differing/unclear nomenclature amongst authors.) The HGVS recommended cDNA numbering starts from the first ATG of the full coding sequence. Protein reference sequences should represent the primary translation product, not a processed mature protein, and thus include any signal peptide sequences. When you notice any omissions or mistakes, please let us know (thank you).\r\nThis database is one of the TCA cycle gene variant databases (formerly SDH Complex databases)\r\nCITATION: if you benefit from the use of this database and publish findings, please cite; Bayley JP, Devilee P, Taschner PE (2005). BMC Med Genet. 6:39.\r\nSDHA has not yet been associated with paragangliomas and pheochromocytomas in spite of several investigations. SDHA has at least one pseudogene, which is located on chromosome 3p29 (Parfait et al., 2000). The pseudogene(s) may interfere with sequence variation detection. The variants included in the database were derived from the published literature or submitted directly and, where necessary, annotated to conform to current HGVS mutation nomenclature. When you notice any omissions or mistakes, please let us know (thank you).\r\nDisclaimer: inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity." "" "g" "http://databases.lovd.nl/shared/refseq/FH_codingDNA.html" "1" "" "LUMC Fumarate Hydratase gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2007-09-17 00:00:00" "00006" "2022-01-03 10:15:56" "00000" "2022-05-09 15:51:19" ## 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}}" "00007945" "FH" "fumarate hydratase" "001" "NM_000143.3" "" "NP_000134.2" "" "" "" "-63" "1804" "1533" "241683085" "241660857" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01926" "MEOAL" "myopathy, Mi, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02608" "FMRD" "deficiency, fumarase (FMRD)" "AR" "606812" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "04476" "HLRCC" "leiomyomatosis and renal cell cancer (HLRCC)" "AD" "150800" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05085" "PGL" "paraganglioma (PGL)" "" "" "" "" "" "00006" "2015-10-23 11:34:02" "00006" "2015-12-08 23:53:58" "05088" "LCT" "tumor, Leydig cell (LCT)" "" "" "" "" "" "00006" "2015-10-23 12:19:26" "" "" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FH" "02608" "FH" "04476" ## Individuals ## Do not remove or alter this header ## ## Count = 290 "{{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}}" "00035819" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035820" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035821" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035822" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035823" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035824" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035825" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035826" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00072567" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072568" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072569" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072570" "" "" "" "1" "" "01713" "" "1 family 7 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072571" "" "" "" "1" "" "01713" "" "" "" "" "Finland" "" "0" "" "" "" "" "00072572" "" "" "" "2" "" "01713" "" "2 families 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072573" "" "" "" "2" "" "01713" "" "2 families 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072574" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Finland" "" "0" "" "" "" "" "00072575" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072576" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "Danish" "" "00072577" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00072578" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "" "" "0" "" "" "African-American" "" "00072579" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "United States" "" "0" "" "" "" "" "00072580" "" "" "" "1" "" "01713" "" "" "" "" "Finland" "" "0" "" "" "" "" "00072581" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072582" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072583" "" "" "" "2" "" "01713" "" "7 families 14 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072584" "" "" "" "2" "" "01713" "" "7 families 14 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072585" "" "" "" "2" "" "01713" "" "7 families 14 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072586" "" "" "" "2" "" "01713" "" "7 families 14 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072587" "" "" "" "2" "" "01713" "" "7 families 14 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072588" "" "" "" "2" "" "01713" "" "7 families 14 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072589" "" "" "" "2" "" "01713" "" "7 families 14 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072590" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072591" "" "" "" "2" "" "01713" "" "1 family 10 affected" "" "" "" "" "0" "" "" "Polish (UK, Germany)" "" "00072592" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072593" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072594" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072595" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072596" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072597" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072598" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072599" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072600" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072601" "" "" "" "3" "" "01713" "" "10 families 27 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072602" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072603" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072604" "" "" "" "1" "" "01713" "" "1 family 18 affected" "" "" "Spain" "" "0" "" "" "Spanish" "" "00072605" "" "" "" "1" "" "01713" "" "1 family 6 affected" "" "" "United States" "" "0" "" "" "" "" "00072606" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Dominican Republic" "" "0" "" "" "" "" "00072607" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072608" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Spain" "" "0" "" "" "Spanish" "" "00072609" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072610" "" "" "" "1" "" "01713" "" "1 family 14 affected" "" "" "Tunisia" "" "0" "" "" "Jewish" "" "00072611" "" "" "" "1" "" "01713" "" "1 family 6 affected" "" "" "United States" "" "0" "" "" "" "" "00072612" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072613" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072614" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072615" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072616" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072617" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Greece" "" "0" "" "" "" "" "00072618" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072619" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Spain" "" "0" "" "" "Spanish" "" "00072620" "" "" "" "1" "" "01713" "" "" "" "" "Finland" "" "0" "" "" "" "" "00072621" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072622" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072623" "" "" "" "1" "" "01713" "" "1 family 10 affected" "" "" "Spain" "" "0" "" "" "" "" "00072624" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072625" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "Finland" "" "0" "" "" "" "" "00072626" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "Finland" "" "0" "" "" "" "" "00072627" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "Finland" "" "0" "" "" "" "" "00072628" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Finland" "" "0" "" "" "" "" "00072629" "" "" "" "1" "" "01713" "" "2 families 2 affected" "" "" "Finland" "" "0" "" "" "" "" "00072630" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Finland" "" "0" "" "" "" "" "00072631" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072632" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072633" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072634" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072635" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072636" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072637" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072638" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072639" "" "" "" "3" "" "01713" "" "UK, USA, not found in 720 chrom; 4 families 8 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072640" "" "" "" "3" "" "01713" "" "UK, USA, not found in 720 chrom; 4 families 8 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072641" "" "" "" "3" "" "01713" "" "UK, USA, not found in 720 chrom; 4 families 8 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072642" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00072643" "" "" "" "2" "" "01713" "" "2 families 3 affected" "" "" "Italy; Ecuador" "" "0" "" "" "African-American" "" "00072644" "" "" "" "2" "" "01713" "" "2 families 3 affected" "" "" "Italy; Ecuador" "" "0" "" "" "African-American" "" "00072645" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072646" "" "" "" "2" "" "01713" "{PMID:Toro 2003:12772087}" "2 families 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072647" "" "" "" "5" "" "01713" "" "Lorenzato: UK, USA, Spain,(Fams: 317, 764.13, 5000, 2000, 3600, 4600, 6200, MCL-12, 11x USA) ; 19 families 23 affected" "" "" "United Kingdom (Great Britain); United States; Spain" "" "0" "" "" "" "" "00072648" "" "" "" "1" "" "01713" "" "Netherlands; 1 family 1 affected" "" "" "United Kingdom (Great Britain); United States; Spain" "" "0" "" "" "" "" "00072649" "" "" "" "1" "" "01713" "" "UK, not found in 300 chrom; 1 family 1 affected" "" "" "United Kingdom (Great Britain); United States; Spain" "" "0" "" "" "" "" "00072650" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain); United States; Spain" "" "0" "" "" "" "" "00072651" "" "" "" "1" "" "01713" "" "" "" "" "Finland" "" "0" "" "" "" "" "00072652" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Finland" "" "0" "" "" "" "" "00072653" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072654" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "Polish" "" "00072655" "" "" "" "2" "" "01713" "" "3 families 5 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072656" "" "" "" "2" "" "01713" "" "3 families 5 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072657" "" "" "" "2" "" "01713" "" "3 families 5 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072658" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Finland" "" "0" "" "" "" "" "00072659" "" "" "" "1" "" "01713" "" "4 families 14 affected" "" "" "Iran; Israel" "" "0" "" "" "Jewish" "" "00072660" "" "" "" "1" "" "01713" "" "4 families 14 affected" "" "" "Iran; Israel" "" "0" "" "" "Jewish" "" "00072661" "" "" "" "1" "" "01713" "" "4 families 14 affected" "" "" "Iran; Israel" "" "0" "" "" "Jewish" "" "00072662" "" "" "" "1" "" "01713" "" "4 families 14 affected" "" "" "Iran; Israel" "" "0" "" "" "Jewish" "" "00072663" "" "" "" "1" "" "01713" "" "" "" "" "Finland" "" "0" "" "" "" "" "00072664" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "" "" "0" "" "" "Italian" "" "00072665" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 7 affected" "" "" "United States" "" "0" "" "" "" "" "00072666" "" "" "" "2" "" "01713" "{PMID:Toro 2003:12772087}" "2 families 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072667" "" "" "" "1" "" "01713" "" "parents first cousins; 1 family 1 affected" "" "yes" "" "" "0" "" "" "Jordanian" "" "00072668" "" "" "" "2" "" "01713" "" "synon, SNP?, leiomyosarcoma" "" "" "United Kingdom (Great Britain); Finland" "" "0" "" "" "" "" "00072669" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072670" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00072671" "" "" "" "3" "" "01713" "{PMID:Toro 2003:12772087}" "2 families 10 affected" "" "" "United States; Australia" "" "0" "" "" "" "" "00072672" "" "" "" "3" "" "01713" "" "2 families 10 affected" "" "" "United States; Australia" "" "0" "" "" "" "" "00072673" "" "" "" "1" "" "01713" "" "" "" "" "Germany" "" "0" "" "" "German" "" "00072674" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072675" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072676" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072677" "" "" "" "2" "" "01713" "{PMID:Toro 2003:12772087}" "2 families 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072678" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072679" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "Finland" "" "0" "" "" "" "" "00072680" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "Finland" "" "0" "" "" "" "" "00072681" "" "" "" "1" "" "01713" "" "not found in 896 chrom; 1 family 1 affected" "" "" "Finland" "" "0" "" "" "" "" "00072682" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00072683" "" "" "" "1" "" "01713" "" "2 families 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072684" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072685" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Ethiopia" "" "0" "" "" "Jewish" "" "00072686" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072687" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072688" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "France" "" "0" "" "" "" "" "00072689" "" "" "" "2" "" "01713" "{PMID:Toro 2003:12772087}" "2 families 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072690" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United States" "" "0" "" "" "" "" "00072691" "" "" "" "2" "" "01713" "{PMID:Toro 2003:12772087}" "2 families 2 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072692" "" "" "" "2" "" "01713" "" "2 families 2 affected" "" "" "United Kingdom (Great Britain); United States" "" "0" "" "" "" "" "00072693" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Croatia (Hrvatska)" "" "0" "" "" "" "" "00072694" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Spain" "" "0" "" "" "Spanish" "" "00072695" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Czech Republic" "" "0" "" "" "" "" "00072696" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Czech Republic; Finland" "" "0" "" "" "" "" "00072697" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Czech Republic; United States" "" "0" "" "" "" "" "00072698" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072699" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "" "" "0" "" "" "" "" "00072700" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Dominican Republic" "" "0" "" "" "" "" "00072701" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Puerto Rico" "" "0" "" "" "" "" "00072702" "" "" "" "2" "" "01713" "" "7 families 19 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072703" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00072704" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00072705" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "" "" "0" "" "" "" "" "00072706" "" "" "" "1" "" "01713" "" "Synon, SNP?" "" "" "Finland" "" "0" "" "" "" "" "00072707" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Pakistan" "" "0" "" "" "Pakistani" "" "00072708" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Pakistan" "" "0" "" "" "Pakistani" "" "00072709" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 6 affected" "" "" "United States" "" "0" "" "" "" "" "00072710" "" "" "" "1" "" "01713" "" "1 family 5 affected" "" "" "" "" "0" "" "" "French-Canadian" "" "00072711" "" "" "" "2" "" "01713" "" "2 families 5 affected" "" "" "" "" "0" "" "" "" "" "00072712" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072713" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072714" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072715" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072716" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072717" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072718" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072719" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072720" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072721" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "United States" "" "0" "" "" "" "" "00072722" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072723" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 1 affected" "" "" "" "" "0" "" "" "" "" "00072724" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00072725" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy" "" "0" "" "" "Europe;Jewish" "" "00072726" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy" "" "0" "" "" "Jewish-Ashkenazi" "" "00072727" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy" "" "0" "" "" "European" "" "00072728" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy; Netherlands" "" "0" "" "" "" "" "00072729" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy; United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072730" "" "" "" "1" "" "01713" "" "" "" "" "Italy; Germany" "" "0" "" "" "" "" "00072731" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "Italy" "" "0" "" "" "Polish" "" "00072732" "" "" "" "1" "" "01713" "{PMID:Toro 2003:12772087}" "1 family 6 affected" "" "" "" "" "0" "" "" "" "" "00072733" "" "" "" "1" "" "01713" "" "1 family 1 affected" "" "" "" "" "0" "" "" "Danish" "" "00072734" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072747" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain); United States; Spain" "" "0" "" "" "" "" "00072748" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Japan" "" "0" "" "" "" "" "00072765" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072766" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072767" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "Sweden" "" "0" "" "" "" "" "00072789" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "" "" "0" "" "" "Swedish" "" "00072970" "" "" "" "1" "" "01713" "" "Unilateral Type 2 Segmental Leiomyomatosis; 1 family 2 affected" "" "" "Libya" "" "0" "" "" "" "" "00072971" "" "" "" "1" "" "01713" "" "Clinical, Radiological and Molecular Studies in a Girl with Fumarase Deficiency. J Inherit Metab Dis. 2000; 23: 112.; 1 isolated case" "" "no" "United States" "" "0" "" "" "" "" "00072972" "" "" "" "1" "" "01713" "" "1 isolated case" "" "no" "United States" "" "0" "" "" "" "" "00072973" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "Netherlands" "" "0" "" "" "" "" "00072974" "" "" "" "1" "" "01713" "" "1 family 5 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072975" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072976" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072977" "" "" "" "1" "" "01713" "" "1 family 4 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072978" "" "" "" "1" "" "01713" "" "Netherlands; 1 family 3 affected" "F" "" "Netherlands" "" "0" "" "" "" "" "00072979" "" "" "" "1" "" "01713" "" "1 family 7 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072980" "" "" "" "1" "" "01713" "" "1 family 2 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00072989" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072990" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072991" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072992" "" "" "" "0" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072993" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072994" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072995" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072996" "" "" "" "1" "" "01656" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072997" "" "" "" "1" "" "01656" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00072998" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00072999" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073000" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073001" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073002" "" "" "" "1" "" "01656" "" "" "" "" "Mali" "" "0" "" "" "" "" "00073003" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073004" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073005" "" "" "" "1" "" "01656" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073006" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073007" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073008" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073009" "" "" "" "1" "" "01656" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073010" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073011" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073012" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073013" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073014" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073015" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073016" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073017" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073018" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073019" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073020" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073021" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073022" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073023" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073024" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073025" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073026" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073027" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073028" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073029" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073030" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073031" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073032" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073033" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073034" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073035" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073036" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073037" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073038" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073039" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073040" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073041" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073042" "" "" "" "1" "" "01656" "" "" "" "" "Mali" "" "0" "" "" "" "" "00073043" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073044" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073045" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073046" "" "" "" "1" "" "01656" "" "" "" "" "" "" "0" "" "" "" "" "00073058" "" "" "" "1" "" "01660" "" "first-cousin Moroccan parents; 1 isolated case" "" "yes" "" "" "0" "" "" "" "" "00073059" "" "" "" "1" "" "01660" "" "Caucasian parents. ; 1 isolated case" "" "no" "France" "" "0" "" "" "white" "" "00073060" "" "" "" "1" "" "01660" "" "first cousin Moroccan parents; 1 isolated case" "" "" "" "" "0" "" "" "" "" "00073062" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073063" "" "" "" "1" "" "01713" "" "A second somatic mutation in tumor; 1 isolated case" "" "" "United Kingdom (Great Britain); United States; Spain" "" "0" "" "" "" "" "00073064" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "United States" "" "0" "" "" "" "" "00073065" "" "" "" "1" "" "01713" "" "1 isolated case" "" "" "" "" "0" "" "" "" "" "00073066" "" "" "" "1" "" "01713" "" "1 family 3 affected" "" "" "Italy" "" "0" "" "" "" "" "00073067" "" "" "" "1" "" "01713" "" "5 isolated cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00073068" "" "" "" "1" "" "01713" "" "1 family 5 affected" "" "" "Colombia" "" "0" "" "" "" "" "00079382" "" "" "" "1" "" "01713" "{PMID:Castro-Vega:24334767}" "" "M" "" "France; Spain" "" "0" "" "" "" "" "00079383" "" "" "" "1" "" "01713" "{PMID:Castro-Vega:24334767}" "" "" "" "France; Spain" "" "0" "" "" "" "" "00079384" "" "" "" "1" "" "01713" "{PMID:Castro-Vega:24334767}" "" "" "" "France; Spain" "" "0" "" "" "" "" "00079385" "" "" "" "1" "" "01713" "{PMID:Clark:25004247}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079386" "" "" "" "1" "" "01713" "{PMID:Clark:25004247}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00079398" "" "" "" "2" "" "01713" "{PMID:España:25354562}" "1 families 2 affected" "" "" "Spain" "" "0" "" "" "" "" "00079399" "" "" "" "1" "" "01713" "{PMID:Ezgu:23612258}" "Child (compound heterozygous)" "" "" "United States" "" "0" "" "" "" "" "00079407" "" "" "" "1" "" "01713" "{PMID:Kubinova:22764886}" "" "" "" "Czech Republic" "" "0" "" "" "" "" "00079408" "" "" "" "2" "" "01713" "{PMID:Kuwada:24684806}" "" "" "" "Japan" "" "0" "" "" "" "" "00079409" "" "" "" "1" "" "01713" "{PMID:Laufer:23935639}" "" "" "" "" "" "0" "" "" "German" "" "00079458" "" "" "" "1" "" "01713" "{PMID:Reyes:24309325}" "" "" "" "United States" "" "0" "" "" "" "" "00079459" "" "" "" "5" "" "01713" "{PMID:Tolvanen:22473397}" "1 families 5 affected" "" "" "Finland" "" "0" "" "" "" "" "00079460" "" "" "" "2" "" "01713" "{PMID:Tregoning:24182348}" "1 families 2 affected; Twins" "" "" "Australia" "" "0" "" "" "" "" "00079461" "" "" "" "1" "" "01713" "{PMID:Vaidya:22528940}" "" "" "" "India" "" "0" "" "" "" "" "00079462" "" "" "" "1" "" "01713" "{PMID:Vaidya:22528940}" "" "" "" "India" "" "0" "" "" "" "" "00079463" "" "" "" "1" "" "01713" "{PMID:Vaidya:22528940}" "" "" "" "India" "" "0" "" "" "" "" "00079875" "" "" "" "1" "" "01738" "" "" "F" "no" "Ireland" "" "0" "" "" "white" "" "00165680" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00264002" "" "" "" "1" "" "00727" "" "" "F" "" "" "" "0" "" "" "" "" "00289787" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289788" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289789" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289790" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295596" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00380937" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "183583" "00380938" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "183556" "00393153" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "188551" "00398063" "" "" "" "1" "" "01164" "" "" "F" "-" "Germany" "" "0" "" "" "" "190470" "00398064" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "189490" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 300 "{{individualid}}" "{{diseaseid}}" "00035819" "00198" "00035820" "01926" "00035821" "00198" "00035822" "00198" "00035823" "00198" "00035824" "00198" "00035825" "00198" "00035826" "00198" "00072567" "05093" "00072568" "05093" "00072569" "05093" "00072570" "05093" "00072571" "00000" "00072572" "05093" "00072573" "05093" "00072574" "05093" "00072575" "05093" "00072576" "00198" "00072577" "05093" "00072578" "05093" "00072579" "05093" "00072580" "00000" "00072581" "00198" "00072582" "00198" "00072583" "05093" "00072584" "05093" "00072585" "05093" "00072586" "05093" "00072587" "05093" "00072588" "05093" "00072589" "05093" "00072590" "00198" "00072591" "05093" "00072592" "00000" "00072593" "05088" "00072593" "05093" "00072594" "05088" "00072594" "05093" "00072595" "05088" "00072595" "05093" "00072596" "05088" "00072596" "05093" "00072597" "05088" "00072597" "05093" "00072598" "05088" "00072598" "05093" "00072599" "05088" "00072599" "05093" "00072600" "05088" "00072600" "05093" "00072601" "05088" "00072601" "05093" "00072602" "05093" "00072603" "00000" "00072604" "05093" "00072605" "05093" "00072606" "05093" "00072607" "05093" "00072608" "05093" "00072609" "05093" "00072610" "05093" "00072611" "05093" "00072612" "00198" "00072613" "00198" "00072614" "00198" "00072615" "05093" "00072616" "05093" "00072617" "05093" "00072618" "05093" "00072619" "05093" "00072620" "00000" "00072621" "05093" "00072622" "05093" "00072623" "05093" "00072624" "05093" "00072625" "05093" "00072626" "05093" "00072627" "05093" "00072628" "05093" "00072629" "05093" "00072630" "05093" "00072631" "05093" "00072632" "05093" "00072633" "05093" "00072634" "05093" "00072635" "00198" "00072636" "00198" "00072637" "00198" "00072638" "00198" "00072639" "05093" "00072640" "05093" "00072641" "05093" "00072642" "00198" "00072643" "05093" "00072644" "05093" "00072645" "05093" "00072646" "05093" "00072647" "05093" "00072648" "00198" "00072649" "00198" "00072650" "00198" "00072651" "05093" "00072652" "05093" "00072653" "05093" "00072654" "00198" "00072655" "05093" "00072656" "05093" "00072657" "05093" "00072658" "05093" "00072659" "05093" "00072660" "05093" "00072661" "05093" "00072662" "05093" "00072663" "00000" "00072664" "05093" "00072665" "05093" "00072666" "05093" "00072667" "00198" "00072668" "00000" "00072669" "05093" "00072670" "00198" "00072671" "05093" "00072672" "05093" "00072673" "00198" "00072674" "05093" "00072675" "05093" "00072676" "05093" "00072677" "05093" "00072678" "05093" "00072679" "05093" "00072680" "05093" "00072681" "05093" "00072682" "00198" "00072683" "05093" "00072684" "00198" "00072685" "05093" "00072686" "05093" "00072687" "05093" "00072688" "00198" "00072689" "05093" "00072690" "05093" "00072691" "05093" "00072692" "05093" "00072693" "00198" "00072694" "05093" "00072695" "00198" "00072696" "00198" "00072697" "00198" "00072698" "05093" "00072699" "05093" "00072700" "05093" "00072701" "05093" "00072702" "05093" "00072703" "05093" "00072704" "05093" "00072705" "05093" "00072706" "00000" "00072707" "00198" "00072708" "00198" "00072709" "05093" "00072710" "05093" "00072711" "05093" "00072712" "05093" "00072713" "05093" "00072714" "05093" "00072715" "05093" "00072716" "05093" "00072717" "05093" "00072718" "05093" "00072719" "05088" "00072720" "05093" "00072721" "05093" "00072722" "05093" "00072723" "05093" "00072724" "00198" "00072725" "00198" "00072726" "00198" "00072727" "00198" "00072728" "00198" "00072729" "00198" "00072730" "00198" "00072731" "00198" "00072732" "05093" "00072733" "00198" "00072734" "05093" "00072747" "05093" "00072748" "05093" "00072765" "05093" "00072766" "05093" "00072767" "05093" "00072789" "05093" "00072970" "05093" "00072971" "00198" "00072972" "00198" "00072973" "05093" "00072974" "05093" "00072975" "05093" "00072976" "05093" "00072977" "05093" "00072978" "05093" "00072979" "05093" "00072980" "05093" "00072989" "05093" "00072990" "00198" "00072991" "05093" "00072992" "05093" "00072993" "05093" "00072994" "05093" "00072995" "05093" "00072996" "05093" "00072997" "05093" "00072998" "05093" "00072999" "05093" "00073000" "00198" "00073001" "05093" "00073002" "05093" "00073003" "05093" "00073004" "05093" "00073005" "05093" "00073006" "05093" "00073007" "05093" "00073008" "00198" "00073009" "05093" "00073010" "05093" "00073011" "05093" "00073012" "05093" "00073013" "05093" "00073014" "05093" "00073015" "05093" "00073016" "05093" "00073017" "05093" "00073018" "05093" "00073019" "05093" "00073020" "00198" "00073021" "00198" "00073022" "05093" "00073023" "05093" "00073024" "00198" "00073025" "05093" "00073026" "05093" "00073027" "05093" "00073028" "05093" "00073029" "05093" "00073030" "05093" "00073031" "05093" "00073032" "05093" "00073033" "05093" "00073034" "05093" "00073035" "05093" "00073036" "05093" "00073037" "05093" "00073038" "05093" "00073039" "05093" "00073040" "05093" "00073041" "05093" "00073042" "05093" "00073043" "05093" "00073044" "05093" "00073045" "05093" "00073046" "05093" "00073058" "00198" "00073059" "00198" "00073060" "00198" "00073062" "05093" "00073063" "05093" "00073064" "05093" "00073065" "05093" "00073065" "05113" "00073066" "05093" "00073067" "05093" "00073068" "05093" "00079382" "05085" "00079383" "05085" "00079384" "05085" "00079385" "05085" "00079386" "05085" "00079398" "05093" "00079399" "00198" "00079407" "05093" "00079408" "05093" "00079409" "00198" "00079458" "05093" "00079459" "05093" "00079460" "00198" "00079461" "05093" "00079462" "05093" "00079463" "05093" "00079875" "05093" "00165680" "04476" "00264002" "04296" "00289787" "00198" "00289788" "00198" "00289789" "00198" "00289790" "00198" "00295596" "00198" "00380937" "04476" "00380938" "04476" "00393153" "04476" "00398063" "04476" "00398064" "04476" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01926, 02608, 04296, 04476, 05085, 05088, 05093, 05113 ## Count = 295 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000052249" "05093" "00072567" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052250" "05093" "00072568" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052251" "05093" "00072569" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052252" "05093" "00072570" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052253" "00000" "00072571" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052254" "05093" "00072572" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052255" "05093" "00072573" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052256" "05093" "00072574" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "STS" "" "" "" "0000052257" "05093" "00072575" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052258" "00198" "00072576" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052259" "05093" "00072577" "01713" "Unknown" "" "kidney tumor" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052260" "05093" "00072578" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052261" "05093" "00072579" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052262" "00000" "00072580" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052263" "00198" "00072581" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052264" "00198" "00072582" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052265" "05093" "00072583" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL; CDC; RCC" "" "" "" "0000052266" "05093" "00072584" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL; CDC; RCC" "" "" "" "0000052267" "05093" "00072585" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL; CDC; RCC" "" "" "" "0000052268" "05093" "00072586" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052269" "05093" "00072587" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052270" "05093" "00072588" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052271" "05093" "00072589" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL; CDC; RCC" "" "" "" "0000052272" "00198" "00072590" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052273" "05093" "00072591" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052274" "00000" "00072592" "01713" "Unknown" "" "leiomyoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000052275" "05093" "00072593" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052276" "05088" "00072593" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052277" "05093" "00072594" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052278" "05088" "00072594" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052279" "05093" "00072595" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052280" "05088" "00072595" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052281" "05093" "00072596" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052282" "05088" "00072596" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052283" "05093" "00072597" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052284" "05088" "00072597" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052285" "05093" "00072598" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052286" "05088" "00072598" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052287" "05093" "00072599" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052288" "05088" "00072599" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052289" "05093" "00072600" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052290" "05088" "00072600" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052291" "05093" "00072601" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052292" "05088" "00072601" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052293" "05093" "00072602" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052294" "00000" "00072603" "01713" "Unknown" "" "leiomyosarcoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000052295" "05093" "00072604" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052296" "05093" "00072605" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052297" "05093" "00072606" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052298" "05093" "00072607" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052299" "05093" "00072608" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052300" "05093" "00072609" "01713" "Unknown" "" "FH activity reduced" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052301" "05093" "00072610" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052302" "05093" "00072611" "01713" "Unknown" "" "FH activity reduced" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052303" "00198" "00072612" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052304" "00198" "00072613" "01713" "Unknown" "" "FH deficiency; meroisodisomy" "" "" "" "" "" "" "" "" "" "" "" "" "0000052305" "00198" "00072614" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052306" "05093" "00072615" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052307" "05093" "00072616" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052308" "05093" "00072617" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052309" "05093" "00072618" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052310" "05093" "00072619" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052311" "00000" "00072620" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052312" "05093" "00072621" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052313" "05093" "00072622" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052314" "05093" "00072623" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052315" "05093" "00072624" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052316" "05093" "00072625" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC; ULMS" "" "" "" "0000052317" "05093" "00072626" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "ULMS; RCC" "" "" "" "0000052318" "05093" "00072627" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "ULMS; RCC" "" "" "" "0000052319" "05093" "00072628" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052320" "05093" "00072629" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052321" "05093" "00072630" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052322" "05093" "00072631" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052323" "05093" "00072632" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052324" "05093" "00072633" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052325" "05093" "00072634" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052326" "00198" "00072635" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052327" "00198" "00072636" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052328" "00198" "00072637" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052329" "00198" "00072638" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052330" "05093" "00072639" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052331" "05093" "00072640" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052332" "05093" "00072641" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052333" "00198" "00072642" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052334" "05093" "00072643" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052335" "05093" "00072644" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052336" "05093" "00072645" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052337" "05093" "00072646" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052338" "05093" "00072647" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052339" "00198" "00072648" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052340" "00198" "00072649" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052341" "00198" "00072650" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052342" "05093" "00072651" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "UL" "" "" "" "0000052343" "05093" "00072652" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "UL" "" "" "" "0000052344" "05093" "00072653" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052345" "00198" "00072654" "01713" "Unknown" "" "OMC" "" "" "" "" "" "" "" "" "" "" "" "" "0000052346" "05093" "00072655" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052347" "05093" "00072656" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052348" "05093" "00072657" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052349" "05093" "00072658" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "ULMS" "" "" "" "0000052350" "05093" "00072659" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052351" "05093" "00072660" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052352" "05093" "00072661" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052353" "05093" "00072662" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052354" "00000" "00072663" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052355" "05093" "00072664" "01713" "Unknown" "" "Cerebral Cavernomas" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052356" "05093" "00072665" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052357" "05093" "00072666" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052358" "00198" "00072667" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052359" "00000" "00072668" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052360" "05093" "00072669" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052361" "00198" "00072670" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052362" "05093" "00072671" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052363" "05093" "00072672" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052364" "00198" "00072673" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052365" "05093" "00072674" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052366" "05093" "00072675" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052367" "05093" "00072676" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052368" "05093" "00072677" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052369" "05093" "00072678" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052370" "05093" "00072679" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052371" "05093" "00072680" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; MCUL" "" "" "" "0000052372" "05093" "00072681" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052373" "00198" "00072682" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052374" "05093" "00072683" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052375" "00198" "00072684" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052376" "05093" "00072685" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052377" "05093" "00072686" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; CDC" "" "" "" "0000052378" "05093" "00072687" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; CDC" "" "" "" "0000052379" "00198" "00072688" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052380" "05093" "00072689" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052381" "05093" "00072690" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052382" "05093" "00072691" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052383" "05093" "00072692" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052384" "00198" "00072693" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052385" "05093" "00072694" "01713" "Unknown" "" "clear cell RCC" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052386" "00198" "00072695" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052387" "00198" "00072696" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052388" "00198" "00072697" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052389" "05093" "00072698" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052390" "05093" "00072699" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052391" "05093" "00072700" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052392" "05093" "00072701" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052393" "05093" "00072702" "01713" "Unknown" "11y" "renal cancer" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052394" "05093" "00072703" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052395" "05093" "00072704" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052396" "05093" "00072705" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052397" "00000" "00072706" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052398" "00198" "00072707" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052399" "00198" "00072708" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052400" "05093" "00072709" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052401" "05093" "00072710" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052402" "05093" "00072711" "01713" "Unknown" "" "RCC with cystic and tubulo-papillary architecture; FH activity undetectable" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052403" "05093" "00072712" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052404" "05093" "00072713" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052405" "05093" "00072714" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052406" "05093" "00072715" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052407" "05093" "00072716" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052408" "05093" "00072717" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052409" "05093" "00072718" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052410" "05088" "00072719" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052411" "05093" "00072720" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052412" "05093" "00072721" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052413" "05093" "00072722" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "ULMS" "" "" "" "0000052414" "05093" "00072723" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052415" "00198" "00072724" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052416" "00198" "00072725" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052417" "00198" "00072726" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052418" "00198" "00072727" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052419" "00198" "00072728" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052420" "00198" "00072729" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052421" "00198" "00072730" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052422" "00198" "00072731" "01713" "Unknown" "" "OMC" "" "" "" "" "" "" "" "" "" "" "" "" "0000052423" "05093" "00072732" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC; CDC" "" "" "" "0000052424" "00198" "00072733" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052425" "05093" "00072734" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052438" "05093" "00072747" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "UL;CL" "" "" "" "0000052439" "05093" "00072748" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052456" "05093" "00072765" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052457" "05093" "00072766" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "CL" "" "" "" "0000052458" "05093" "00072767" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052480" "05093" "00072789" "01713" "Unknown" "" "Cutaneous leiomyomas, suprarenal tumor-cortical, adenoma & renal cysts-histologically, classified as oncocytomas" "" "" "" "" "" "" "" "" "HLRCC; CL" "" "" "" "0000052661" "05093" "00072970" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "CL" "" "" "" "0000052662" "00198" "00072971" "01713" "Unknown" "" "FH deficiency, fumarase activity 20%. At 3.5 years, global psychomotor retardation, speech delay, strabismus, and mild microcephaly." "" "" "" "" "" "" "" "" "" "" "" "" "0000052663" "00198" "00072972" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "0000052664" "05093" "00072973" "01713" "Unknown" "" "Wilms tumor (age 2 years)" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052665" "05093" "00072974" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052666" "05093" "00072975" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052667" "05093" "00072976" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052668" "05093" "00072977" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052669" "05093" "00072978" "01713" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052670" "05093" "00072979" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052671" "05093" "00072980" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052680" "05093" "00072989" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052681" "00198" "00072990" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052682" "05093" "00072991" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052683" "05093" "00072992" "01656" "Unknown" "" "Papillary type II" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052684" "05093" "00072993" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052685" "05093" "00072994" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052686" "05093" "00072995" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052687" "05093" "00072996" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052688" "05093" "00072997" "01656" "Unknown" "" "FH enzymatic activity 41%" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052689" "05093" "00072998" "01656" "Unknown" "" "FH enzymatic activity normal" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052690" "05093" "00072999" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052691" "00198" "00073000" "01656" "Unknown" "" "adénofibromes multiples du sein + gros utérus fibromateux" "" "" "" "" "" "" "" "" "" "" "" "" "0000052692" "05093" "00073001" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052693" "05093" "00073002" "01656" "Unknown" "" "Papillary II" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052694" "05093" "00073003" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052695" "05093" "00073004" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052696" "05093" "00073005" "01656" "Unknown" "" "FH enzymatic activity 41%" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052697" "05093" "00073006" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052698" "05093" "00073007" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052699" "00198" "00073008" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052700" "05093" "00073009" "01656" "Unknown" "" "FH enzymatic activity 41%" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052701" "05093" "00073010" "01656" "Unknown" "" "Cancer rénal à cellules éosinophiles + fibromes utérins" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052702" "05093" "00073011" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052703" "05093" "00073012" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052704" "05093" "00073013" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052705" "05093" "00073014" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052706" "05093" "00073015" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052707" "05093" "00073016" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052708" "05093" "00073017" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052709" "05093" "00073018" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052710" "05093" "00073019" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052711" "00198" "00073020" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052712" "00198" "00073021" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052713" "05093" "00073022" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052714" "05093" "00073023" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052715" "00198" "00073024" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000052716" "05093" "00073025" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052717" "05093" "00073026" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052718" "05093" "00073027" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052719" "05093" "00073028" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052720" "05093" "00073029" "01656" "Unknown" "" "papillary type II" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052721" "05093" "00073030" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052722" "05093" "00073031" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052723" "05093" "00073032" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052724" "05093" "00073033" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052725" "05093" "00073034" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052726" "05093" "00073035" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052727" "05093" "00073036" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052728" "05093" "00073037" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052729" "05093" "00073038" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052730" "05093" "00073039" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052731" "05093" "00073040" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052732" "05093" "00073041" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052733" "05093" "00073042" "01656" "Unknown" "" "papillary" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052734" "05093" "00073043" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052735" "05093" "00073044" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052736" "05093" "00073045" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052737" "05093" "00073046" "01656" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052749" "00198" "00073058" "01660" "Unknown" "" "FH deficiency, fumarase activity < 1%,microcephaly, trunk hypotonia, hypertonic, dystonic posture of the limbs, little progress in psychomotor development." "" "" "" "" "" "" "" "" "" "" "" "" "0000052750" "00198" "00073059" "01660" "Unknown" "" "FH deficiency, fumarase activity 20%. At 3.5 years, global psychomotor retardation, speech delay, strabismus, and mild microcephaly." "" "" "" "" "" "" "" "" "" "" "" "" "0000052751" "00198" "00073060" "01660" "Unknown" "" "FH deficiency, speech delay at <4 years, IQ was 70." "" "" "" "" "" "" "" "" "" "" "" "" "0000052753" "05093" "00073062" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052754" "05093" "00073063" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052755" "05093" "00073064" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000052756" "05093" "00073065" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052757" "05113" "00073065" "01713" "Unknown" "" "cutis verticis gyrata, disseminated collagenoma" "" "" "" "" "" "" "" "" "" "" "" "" "0000052758" "05093" "00073066" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000052759" "05093" "00073067" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000052760" "05093" "00073068" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000059104" "05085" "00079382" "01713" "Unknown" "28y" "TAP-PGL; Metastatic" "" "" "" "" "" "" "" "" "PGL" "" "" "" "0000059105" "05085" "00079383" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059106" "05085" "00079384" "01713" "Unknown" "" "Unilateral PCC" "" "" "" "" "" "" "" "" "PGL;PGL-HN" "" "" "" "0000059107" "05085" "00079385" "01713" "Unknown" "6y" "Unilateral PCC" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059108" "05085" "00079386" "01713" "Unknown" "41y" "" "" "" "" "" "" "" "" "" "PCC" "" "" "" "0000059120" "05093" "00079398" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000059121" "00198" "00079399" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000059130" "05093" "00079407" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000059131" "05093" "00079408" "01713" "Unknown" "" "Reed syndrome" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000059132" "00198" "00079409" "01713" "Unknown" "" "sporadic" "" "" "" "" "" "" "" "" "" "" "" "" "0000059182" "05093" "00079458" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "HLRCC" "" "" "" "0000059183" "05093" "00079459" "01713" "Unknown" "" "FH deficiency" "" "" "" "" "" "" "" "" "MCUL" "" "" "" "0000059184" "00198" "00079460" "01713" "Unknown" "" "nonsyndromic" "" "" "" "" "" "" "" "" "" "" "" "" "0000059185" "05093" "00079461" "01713" "Unknown" "" "nonsyndromic" "" "" "" "" "" "" "" "" "UL" "" "" "" "0000059186" "05093" "00079462" "01713" "Unknown" "" "nonsyndromic" "" "" "" "" "" "" "" "" "UL" "" "" "" "0000059187" "05093" "00079463" "01713" "Unknown" "" "" "" "" "" "" "" "" "" "" "UL" "" "" "" "0000059588" "05093" "00079875" "01738" "Complex" "" "31y-multiple uterine fibroids, 52y-papillary renal cell carcinoma: maternal 1st cousin cutaneous leiomyomas and multiple fibroids" "" "" "" "" "" "" "" "" "RCC" "" "" "" "0000156275" "00198" "00035819" "01164" "Unknown" "" "suspected HLRCC (Fumarathydratasedefekt) bei Uterusleiomyomatosis" "" "" "" "" "" "" "" "" "" "" "leiomyomatosis and renal cell cancer" "" "0000156276" "01926" "00035820" "01164" "Unknown" "" "mother: autosomal dominante hereditary leiomyomatosis" "" "" "" "" "" "" "" "" "" "" "leiomyomatosis?" "" "0000156277" "00198" "00035821" "01164" "Unknown" "" "suspected HLRCC (Fumarathydratasedefekt) bei Uterusleiomyomatosis" "" "" "" "" "" "" "" "" "" "" "leiomyomatosis and renal cell cancer" "" "0000156278" "00198" "00035822" "01164" "Unknown" "" "clinical hereditary leiomyomatosis" "" "" "" "" "" "" "" "" "" "" "leiomyomatosis" "" "0000156279" "00198" "00035823" "01164" "Unknown" "" "leiomyomytosis" "" "" "" "" "" "" "" "" "" "" "leiomyomytosis" "" "0000156280" "00198" "00035824" "01164" "Familial" "" "familiar leiomyomatosis" "" "" "" "" "" "" "" "" "" "" "leiomyomatosis" "" "0000156281" "00198" "00035825" "01164" "Unknown" "" "leiomyomatosis" "" "" "" "" "" "" "" "" "" "" "leiomyomatosis" "" "0000156282" "00198" "00035826" "01164" "Unknown" "" "daughter with FH deficiency" "" "" "" "" "" "" "" "" "" "" "FH deficiency?" "" "0000201860" "04296" "00264002" "00727" "Unknown" "" "Phaeochromocytoma, 16y; Phaeochromocytoma, 35y." "" "" "" "" "" "" "" "" "" "" "" "" "0000223161" "00198" "00295596" "01164" "Unknown" "" "Breast carcinoma (HP:0003002); Renal transitional cell carcinoma (HP:0030409)" "" "" "" "" "" "" "" "" "" "" "" "" "0000274790" "04476" "00380937" "01164" "Familial, autosomal dominant" "" "(+) Uterine leiomyoma,(+) Uterine neoplasm,(+) Family history" "" "" "" "" "" "" "" "" "" "" "" "" "0000274791" "04476" "00380938" "01164" "Familial, autosomal dominant" "" "(+) Uterine leiomyoma,(+) Depressivity,(+) Hypercholesterolemia,(+) Cutaneous leiomyoma,(+) Neoplasm of the skin,(+) Family history" "" "" "" "" "" "" "" "" "" "" "" "" "0000286394" "04476" "00393153" "01164" "Familial, autosomal dominant" "" "Diffuse leiomyomatosis, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Uterine leiomyoma, Colon cancer" "" "" "" "" "" "" "" "" "" "" "" "" "0000291173" "04476" "00398063" "01164" "Familial, autosomal dominant" "44y" "Renal cell carcinoma, Papillary renal cell carcinoma type 2, Papillary renal cell carcinoma, Uterine leiomyoma" "" "" "" "" "" "" "" "" "" "Renal cell carcinoma" "Renal cell carcinoma" "" "0000291174" "04476" "00398064" "01164" "Familial, autosomal dominant" "38y" "Leiomyosarcoma, Diffuse leiomyomatosis, Soft tissue neoplasm" "" "" "" "" "" "" "" "" "" "Leiomyosarcoma" "Leiomyosarcoma" "" ## Screenings ## Do not remove or alter this header ## ## Count = 290 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035889" "00035819" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035890" "00035820" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035891" "00035821" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035892" "00035822" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035893" "00035823" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035894" "00035824" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035895" "00035825" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035896" "00035826" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000072724" "00072567" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072725" "00072568" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072726" "00072569" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072727" "00072570" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072728" "00072571" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "DHPLC;SEQ" "DNA" "" "" "0000072729" "00072572" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072730" "00072573" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072731" "00072574" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072732" "00072575" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072733" "00072576" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072734" "00072577" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072735" "00072578" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072736" "00072579" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072737" "00072580" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072738" "00072581" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072739" "00072582" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072740" "00072583" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072741" "00072584" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072742" "00072585" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072743" "00072586" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072744" "00072587" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072745" "00072588" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072746" "00072589" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072747" "00072590" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072748" "00072591" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072749" "00072592" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072750" "00072593" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072751" "00072594" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072752" "00072595" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072753" "00072596" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072754" "00072597" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072755" "00072598" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072756" "00072599" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072757" "00072600" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072758" "00072601" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072759" "00072602" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072760" "00072603" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072761" "00072604" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072762" "00072605" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072763" "00072606" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072764" "00072607" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072765" "00072608" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072766" "00072609" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072767" "00072610" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072768" "00072611" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072769" "00072612" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072770" "00072613" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072771" "00072614" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072772" "00072615" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072773" "00072616" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072774" "00072617" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072775" "00072618" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072776" "00072619" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072777" "00072620" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "DHPLC;SEQ" "DNA" "" "" "0000072778" "00072621" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072779" "00072622" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072780" "00072623" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072781" "00072624" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072782" "00072625" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072783" "00072626" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072784" "00072627" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072785" "00072628" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072786" "00072629" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072787" "00072630" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072788" "00072631" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072789" "00072632" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072790" "00072633" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072791" "00072634" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072792" "00072635" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072793" "00072636" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072794" "00072637" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072795" "00072638" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072796" "00072639" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072797" "00072640" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072798" "00072641" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072799" "00072642" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072800" "00072643" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072801" "00072644" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072802" "00072645" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072803" "00072646" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072804" "00072647" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072805" "00072648" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "RNA;DNA" "" "" "0000072806" "00072649" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072807" "00072650" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072808" "00072651" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "DHPLC;SEQ" "DNA" "" "" "0000072809" "00072652" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "DHPLC;SEQ" "DNA" "" "" "0000072810" "00072653" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072811" "00072654" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072812" "00072655" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072813" "00072656" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072814" "00072657" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072815" "00072658" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072816" "00072659" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072817" "00072660" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072818" "00072661" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072819" "00072662" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072820" "00072663" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072821" "00072664" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA;RNA" "" "" "0000072822" "00072665" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072823" "00072666" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072824" "00072667" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072825" "00072668" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "DHPLC;SEQ" "DNA" "" "" "0000072826" "00072669" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072827" "00072670" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072828" "00072671" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072829" "00072672" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072830" "00072673" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072831" "00072674" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072832" "00072675" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072833" "00072676" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072834" "00072677" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072835" "00072678" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072836" "00072679" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072837" "00072680" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072838" "00072681" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072839" "00072682" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072840" "00072683" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072841" "00072684" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072842" "00072685" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072843" "00072686" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072844" "00072687" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072845" "00072688" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "RNA" "" "" "0000072846" "00072689" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072847" "00072690" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072848" "00072691" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072849" "00072692" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072850" "00072693" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072851" "00072694" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072852" "00072695" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "RNA" "" "" "0000072853" "00072696" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "RNA;DNA" "" "" "0000072854" "00072697" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072855" "00072698" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072856" "00072699" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072857" "00072700" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072858" "00072701" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072859" "00072702" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072860" "00072703" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072861" "00072704" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072862" "00072705" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072863" "00072706" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072864" "00072707" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072865" "00072708" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072866" "00072709" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072867" "00072710" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072868" "00072711" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072869" "00072712" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072870" "00072713" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072871" "00072714" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072872" "00072715" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072873" "00072716" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072874" "00072717" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072875" "00072718" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA;CSGE" "DNA" "" "" "0000072876" "00072719" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072877" "00072720" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072878" "00072721" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072879" "00072722" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072880" "00072723" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072881" "00072724" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072882" "00072725" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072883" "00072726" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072884" "00072727" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072885" "00072728" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "RNA;DNA" "" "" "0000072886" "00072729" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072887" "00072730" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072888" "00072731" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072889" "00072732" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072890" "00072733" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ;SSCA" "RNA" "" "" "0000072891" "00072734" "1" "01713" "01713" "2007-09-17 09:42:27" "" "" "SEQ" "DNA" "" "" "0000072904" "00072747" "1" "01713" "01713" "2008-01-11 10:15:44" "" "" "SEQ" "DNA" "" "" "0000072905" "00072748" "1" "01713" "01713" "2008-01-28 15:10:28" "" "" "SEQ" "DNA" "" "" "0000072922" "00072765" "1" "01713" "01713" "2008-07-31 12:07:02" "" "" "SEQ" "DNA" "" "" "0000072923" "00072766" "1" "01713" "01713" "2008-07-31 12:19:16" "" "" "SEQ" "DNA" "" "" "0000072924" "00072767" "1" "01713" "01713" "2008-07-31 12:43:08" "" "" "MLPA" "DNA" "" "" "0000072946" "00072789" "1" "01713" "01713" "2009-01-16 11:08:49" "" "" "SEQ" "DNA" "" "" "0000073127" "00072970" "1" "01713" "01713" "2010-08-09 17:29:05" "" "" "SEQ" "DNA" "" "" "0000073128" "00072971" "1" "01713" "01713" "2010-08-10 09:37:43" "" "" "SEQ" "DNA" "" "" "0000073129" "00072972" "1" "01713" "01713" "2010-08-10 09:45:28" "" "" "SEQ" "DNA" "" "" "0000073130" "00072973" "1" "01713" "01713" "2010-08-10 10:05:33" "" "" "SEQ" "DNA" "" "" "0000073131" "00072974" "1" "01713" "01713" "2010-08-10 11:16:12" "" "" "SEQ" "DNA" "" "" "0000073132" "00072975" "1" "01713" "01713" "2010-08-10 11:19:35" "" "" "SEQ" "DNA" "" "" "0000073133" "00072976" "1" "01713" "01713" "2010-08-10 11:23:41" "" "" "SEQ" "DNA" "" "" "0000073134" "00072977" "1" "01713" "01713" "2010-08-10 11:33:17" "" "" "SEQ" "DNA" "" "" "0000073135" "00072978" "1" "01713" "01713" "2010-08-10 11:58:05" "" "" "MLPA" "DNA" "" "" "0000073136" "00072979" "1" "01713" "01713" "2010-08-10 12:02:44" "" "" "SEQ" "DNA" "" "" "0000073137" "00072980" "1" "01713" "01713" "2010-08-10 12:11:02" "" "" "SEQ" "DNA" "" "" "0000073146" "00072989" "1" "01656" "01656" "2010-12-06 15:12:44" "" "" "SEQ" "DNA" "" "" "0000073147" "00072990" "1" "01656" "01656" "2010-12-06 15:35:10" "" "" "SEQ" "DNA" "" "" "0000073148" "00072991" "1" "01656" "01656" "2010-12-06 15:45:16" "" "" "SEQ" "DNA" "" "" "0000073149" "00072992" "1" "01656" "01656" "2010-12-06 15:50:55" "" "" "SEQ" "DNA" "" "" "0000073150" "00072993" "1" "01656" "01656" "2010-12-10 10:57:39" "" "" "SEQ" "DNA" "" "" "0000073151" "00072994" "1" "01656" "01656" "2010-12-10 11:04:27" "" "" "SEQ" "DNA" "" "" "0000073152" "00072995" "1" "01656" "01656" "2010-12-10 11:12:50" "" "" "SEQ" "DNA" "" "" "0000073153" "00072996" "1" "01656" "01656" "2010-12-10 11:16:20" "" "" "SEQ" "DNA" "" "" "0000073154" "00072997" "1" "01656" "01656" "2010-12-10 11:17:39" "" "" "SEQ" "DNA" "" "" "0000073155" "00072998" "1" "01656" "01656" "2010-12-10 11:21:39" "" "" "SEQ" "DNA" "" "" "0000073156" "00072999" "1" "01656" "01656" "2010-12-10 11:24:31" "" "" "SEQ" "DNA" "" "" "0000073157" "00073000" "1" "01656" "01656" "2010-12-10 11:28:37" "" "" "SEQ" "DNA" "" "" "0000073158" "00073001" "1" "01656" "01656" "2010-12-10 11:34:21" "" "" "SEQ" "DNA" "" "" "0000073159" "00073002" "1" "01656" "01656" "2010-12-10 11:48:58" "" "" "SEQ" "DNA" "" "" "0000073160" "00073003" "1" "01656" "01656" "2010-12-10 14:08:05" "" "" "SEQ" "DNA" "" "" "0000073161" "00073004" "1" "01656" "01656" "2010-12-10 14:12:03" "" "" "SEQ" "DNA" "" "" "0000073162" "00073005" "1" "01656" "01656" "2010-12-10 14:13:46" "" "" "SEQ" "DNA" "" "" "0000073163" "00073006" "1" "01656" "01656" "2010-12-10 14:16:38" "" "" "SEQ" "DNA" "" "" "0000073164" "00073007" "1" "01656" "01656" "2010-12-10 14:19:24" "" "" "SEQ" "DNA" "" "" "0000073165" "00073008" "1" "01656" "01656" "2010-12-10 14:22:13" "" "" "SEQ" "DNA" "" "" "0000073166" "00073009" "1" "01656" "01656" "2010-12-10 14:23:53" "" "" "SEQ" "DNA" "" "" "0000073167" "00073010" "1" "01656" "01656" "2010-12-10 14:27:19" "" "" "SEQ" "DNA" "" "" "0000073168" "00073011" "1" "01656" "01656" "2010-12-10 14:30:19" "" "" "SEQ" "DNA" "" "" "0000073169" "00073012" "1" "01656" "01656" "2010-12-10 14:33:34" "" "" "SEQ" "DNA" "" "" "0000073170" "00073013" "1" "01656" "01656" "2010-12-10 14:36:49" "" "" "SEQ" "DNA" "" "" "0000073171" "00073014" "1" "01656" "01656" "2010-12-10 14:41:35" "" "" "SEQ" "DNA" "" "" "0000073172" "00073015" "1" "01656" "01656" "2010-12-10 15:01:11" "" "" "SEQ" "DNA" "" "" "0000073173" "00073016" "1" "01656" "01656" "2010-12-10 15:09:22" "" "" "SEQ" "DNA" "" "" "0000073174" "00073017" "1" "01656" "01656" "2010-12-10 15:15:49" "" "" "SEQ" "DNA" "" "" "0000073175" "00073018" "1" "01656" "01656" "2010-12-10 15:21:10" "" "" "SEQ" "DNA" "" "" "0000073176" "00073019" "1" "01656" "01656" "2010-12-10 15:23:09" "" "" "SEQ" "DNA" "" "" "0000073177" "00073020" "1" "01656" "01656" "2010-12-10 16:09:40" "" "" "SEQ" "DNA" "" "" "0000073178" "00073021" "1" "01656" "01656" "2010-12-10 16:11:37" "" "" "SEQ" "DNA" "" "" "0000073179" "00073022" "1" "01656" "01656" "2010-12-10 16:13:22" "" "" "SEQ" "DNA" "" "" "0000073180" "00073023" "1" "01656" "01656" "2010-12-10 16:16:51" "" "" "SEQ" "DNA" "" "" "0000073181" "00073024" "1" "01656" "01656" "2010-12-10 16:20:18" "" "" "SEQ" "DNA" "" "" "0000073182" "00073025" "1" "01656" "01656" "2010-12-10 16:29:57" "" "" "SEQ" "DNA" "" "" "0000073183" "00073026" "1" "01656" "01656" "2010-12-10 16:32:13" "" "" "SEQ" "DNA" "" "" "0000073184" "00073027" "1" "01656" "01656" "2010-12-10 16:34:31" "" "" "SEQ" "DNA" "" "" "0000073185" "00073028" "1" "01656" "01656" "2010-12-10 16:36:20" "" "" "SEQ" "DNA" "" "" "0000073186" "00073029" "1" "01656" "01656" "2010-12-10 17:00:18" "" "" "SEQ" "DNA" "" "" "0000073187" "00073030" "1" "01656" "01656" "2010-12-10 17:03:22" "" "" "SEQ" "DNA" "" "" "0000073188" "00073031" "1" "01656" "01656" "2010-12-10 17:06:53" "" "" "SEQ" "DNA" "" "" "0000073189" "00073032" "1" "01656" "01656" "2010-12-10 17:12:28" "" "" "SEQ" "DNA" "" "" "0000073190" "00073033" "1" "01656" "01656" "2010-12-10 17:15:57" "" "" "SEQ" "DNA" "" "" "0000073191" "00073034" "1" "01656" "01656" "2010-12-10 17:18:00" "" "" "SEQ" "DNA" "" "" "0000073192" "00073035" "1" "01656" "01656" "2010-12-10 17:20:40" "" "" "SEQ" "DNA" "" "" "0000073193" "00073036" "1" "01656" "01656" "2010-12-10 17:22:41" "" "" "SEQ" "DNA" "" "" "0000073194" "00073037" "1" "01656" "01656" "2010-12-10 17:26:29" "" "" "SEQ" "DNA" "" "" "0000073195" "00073038" "1" "01656" "01656" "2010-12-10 17:29:19" "" "" "SEQ" "DNA" "" "" "0000073196" "00073039" "1" "01656" "01656" "2010-12-10 17:36:07" "" "" "SEQ" "DNA" "" "" "0000073197" "00073040" "1" "01656" "01656" "2010-12-10 17:39:06" "" "" "SEQ" "DNA" "" "" "0000073198" "00073041" "1" "01656" "01656" "2010-12-10 17:41:01" "" "" "SEQ" "DNA" "" "" "0000073199" "00073042" "1" "01656" "01656" "2010-12-10 17:49:05" "" "" "SEQ" "DNA" "" "" "0000073200" "00073043" "1" "01656" "01656" "2010-12-10 17:51:56" "" "" "SEQ" "DNA" "" "" "0000073201" "00073044" "1" "01656" "01656" "2010-12-10 17:53:51" "" "" "SEQ" "DNA" "" "" "0000073202" "00073045" "1" "01656" "01656" "2010-12-10 17:57:43" "" "" "SEQ" "DNA" "" "" "0000073203" "00073046" "1" "01656" "01656" "2010-12-10 18:00:42" "" "" "SEQ" "DNA" "" "" "0000073215" "00073058" "1" "01660" "01660" "2011-04-26 17:07:36" "" "" "SEQ" "DNA" "" "" "0000073216" "00073059" "1" "01660" "01660" "2011-04-26 17:13:44" "" "" "SEQ" "DNA" "" "" "0000073217" "00073060" "1" "01660" "01660" "2011-04-26 17:15:52" "" "" "SEQ" "DNA" "" "" "0000073219" "00073062" "1" "01713" "01713" "2011-08-16 16:47:38" "" "" "SEQ" "DNA" "" "" "0000073220" "00073063" "1" "01713" "01713" "2011-08-16 16:55:43" "" "" "HD;IHC;PCRm;MAPH;MLPA;PAGE;PCR;PTT;RT-PCR;SEQ" "DNA" "" "" "0000073221" "00073064" "1" "01713" "01713" "2011-08-17 10:13:09" "" "" "SEQ" "DNA" "" "" "0000073222" "00073065" "1" "01713" "01713" "2011-08-17 10:21:03" "" "" "SEQ" "DNA" "" "" "0000073223" "00073066" "1" "01713" "01713" "2011-08-17 12:38:00" "" "" "SEQ" "DNA" "" "" "0000073224" "00073067" "1" "01713" "01713" "2011-08-17 14:41:07" "" "" "SEQ" "DNA" "" "" "0000073225" "00073068" "1" "01713" "01713" "2011-08-17 14:58:50" "" "" "SEQ" "DNA" "" "" "0000079455" "00079382" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079456" "00079383" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079457" "00079384" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079458" "00079385" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079459" "00079386" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079471" "00079398" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079472" "00079399" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079480" "00079407" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079481" "00079408" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079482" "00079409" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079531" "00079458" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079532" "00079459" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079533" "00079460" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079534" "00079461" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079535" "00079462" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079536" "00079463" "1" "01713" "00008" "2016-08-12 13:58:20" "" "" "SEQ" "DNA" "" "" "0000079955" "00079875" "1" "01738" "01738" "2016-08-22 12:18:41" "" "" "SEQ-NG" "DNA" "" "" "0000166559" "00165680" "1" "01741" "01741" "2018-07-11 15:00:18" "" "" "SEQ" "DNA" "" "" "0000265139" "00264002" "1" "00727" "00727" "2019-09-05 18:26:40" "" "" "SEQ-NG-I" "DNA" "" "" "0000290955" "00289787" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290956" "00289788" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290957" "00289789" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290958" "00289790" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296766" "00295596" "1" "01164" "01164" "2020-03-18 10:49:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000382151" "00380937" "1" "01164" "01164" "2021-08-24 14:11:08" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000382152" "00380938" "1" "01164" "01164" "2021-08-24 14:24:37" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000394401" "00393153" "1" "01164" "01164" "2021-11-26 09:47:35" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000399306" "00398063" "1" "01164" "01164" "2021-12-31 11:11:29" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000399307" "00398064" "1" "01164" "01164" "2021-12-31 11:15:45" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 285 "{{screeningid}}" "{{geneid}}" "0000035889" "FH" "0000035890" "FH" "0000035891" "FH" "0000035892" "FH" "0000035893" "FH" "0000035894" "FH" "0000035895" "FH" "0000035896" "FH" "0000072724" "FH" "0000072725" "FH" "0000072726" "FH" "0000072727" "FH" "0000072728" "FH" "0000072729" "FH" "0000072730" "FH" "0000072731" "FH" "0000072732" "FH" "0000072733" "FH" "0000072734" "FH" "0000072735" "FH" "0000072736" "FH" "0000072737" "FH" "0000072738" "FH" "0000072739" "FH" "0000072740" "FH" "0000072741" "FH" "0000072742" "FH" "0000072743" "FH" "0000072744" "FH" "0000072745" "FH" "0000072746" "FH" "0000072747" "FH" "0000072748" "FH" "0000072749" "FH" "0000072750" "FH" "0000072751" "FH" "0000072752" "FH" "0000072753" "FH" "0000072754" "FH" "0000072755" "FH" "0000072756" "FH" "0000072757" "FH" "0000072758" "FH" "0000072759" "FH" "0000072760" "FH" "0000072761" "FH" "0000072762" "FH" "0000072763" "FH" "0000072764" "FH" "0000072765" "FH" "0000072766" "FH" "0000072767" "FH" "0000072768" "FH" "0000072769" "FH" "0000072770" "FH" "0000072771" "FH" "0000072772" "FH" "0000072773" "FH" "0000072774" "FH" "0000072775" "FH" "0000072776" "FH" "0000072777" "FH" "0000072778" "FH" "0000072779" "FH" "0000072780" "FH" "0000072781" "FH" "0000072782" "FH" "0000072783" "FH" "0000072784" "FH" "0000072785" "FH" "0000072786" "FH" "0000072787" "FH" "0000072788" "FH" "0000072789" "FH" "0000072790" "FH" "0000072791" "FH" "0000072792" "FH" "0000072793" "FH" "0000072794" "FH" "0000072795" "FH" "0000072796" "FH" "0000072797" "FH" "0000072798" "FH" "0000072799" "FH" "0000072800" "FH" "0000072801" "FH" "0000072802" "FH" "0000072803" "FH" "0000072804" "FH" "0000072805" "FH" "0000072806" "FH" "0000072807" "FH" "0000072808" "FH" "0000072809" "FH" "0000072810" "FH" "0000072811" "FH" "0000072812" "FH" "0000072813" "FH" "0000072814" "FH" "0000072815" "FH" "0000072816" "FH" "0000072817" "FH" "0000072818" "FH" "0000072819" "FH" "0000072820" "FH" "0000072821" "FH" "0000072822" "FH" "0000072823" "FH" "0000072824" "FH" "0000072825" "FH" "0000072826" "FH" "0000072827" "FH" "0000072828" "FH" "0000072829" "FH" "0000072830" "FH" "0000072831" "FH" "0000072832" "FH" "0000072833" "FH" "0000072834" "FH" "0000072835" "FH" "0000072836" "FH" "0000072837" "FH" "0000072838" "FH" "0000072839" "FH" "0000072840" "FH" "0000072841" "FH" "0000072842" "FH" "0000072843" "FH" "0000072844" "FH" "0000072845" "FH" "0000072846" "FH" "0000072847" "FH" "0000072848" "FH" "0000072849" "FH" "0000072850" "FH" "0000072851" "FH" "0000072852" "FH" "0000072853" "FH" "0000072854" "FH" "0000072855" "FH" "0000072856" "FH" "0000072857" "FH" "0000072858" "FH" "0000072859" "FH" "0000072860" "FH" "0000072861" "FH" "0000072862" "FH" "0000072863" "FH" "0000072864" "FH" "0000072865" "FH" "0000072866" "FH" "0000072867" "FH" "0000072868" "FH" "0000072869" "FH" "0000072870" "FH" "0000072871" "FH" "0000072872" "FH" "0000072873" "FH" "0000072874" "FH" "0000072875" "FH" "0000072876" "FH" "0000072877" "FH" "0000072878" "FH" "0000072879" "FH" "0000072880" "FH" "0000072881" "FH" "0000072882" "FH" "0000072883" "FH" "0000072884" "FH" "0000072885" "FH" "0000072886" "FH" "0000072887" "FH" "0000072888" "FH" "0000072889" "FH" "0000072890" "FH" "0000072891" "FH" "0000072904" "FH" "0000072905" "FH" "0000072922" "FH" "0000072923" "FH" "0000072924" "FH" "0000072946" "FH" "0000073127" "FH" "0000073128" "FH" "0000073129" "FH" "0000073130" "FH" "0000073131" "FH" "0000073132" "FH" "0000073133" "FH" "0000073134" "FH" "0000073135" "FH" "0000073136" "FH" "0000073137" "FH" "0000073146" "FH" "0000073147" "FH" "0000073148" "FH" "0000073149" "FH" "0000073150" "FH" "0000073151" "FH" "0000073152" "FH" "0000073153" "FH" "0000073154" "FH" "0000073155" "FH" "0000073156" "FH" "0000073157" "FH" "0000073158" "FH" "0000073159" "FH" "0000073160" "FH" "0000073161" "FH" "0000073162" "FH" "0000073163" "FH" "0000073164" "FH" "0000073165" "FH" "0000073166" "FH" "0000073167" "FH" "0000073168" "FH" "0000073169" "FH" "0000073170" "FH" "0000073171" "FH" "0000073172" "FH" "0000073173" "FH" "0000073174" "FH" "0000073175" "FH" "0000073176" "FH" "0000073177" "FH" "0000073178" "FH" "0000073179" "FH" "0000073180" "FH" "0000073181" "FH" "0000073182" "FH" "0000073183" "FH" "0000073184" "FH" "0000073185" "FH" "0000073186" "FH" "0000073187" "FH" "0000073188" "FH" "0000073189" "FH" "0000073190" "FH" "0000073191" "FH" "0000073192" "FH" "0000073193" "FH" "0000073194" "FH" "0000073195" "FH" "0000073196" "FH" "0000073197" "FH" "0000073198" "FH" "0000073199" "FH" "0000073200" "FH" "0000073201" "FH" "0000073202" "FH" "0000073203" "FH" "0000073215" "FH" "0000073216" "FH" "0000073217" "FH" "0000073219" "FH" "0000073220" "FH" "0000073221" "FH" "0000073222" "FH" "0000073223" "FH" "0000073224" "FH" "0000073225" "FH" "0000079455" "FH" "0000079456" "FH" "0000079457" "FH" "0000079458" "FH" "0000079459" "FH" "0000079471" "FH" "0000079472" "FH" "0000079480" "FH" "0000079481" "FH" "0000079482" "FH" "0000079531" "FH" "0000079532" "FH" "0000079533" "FH" "0000079534" "FH" "0000079535" "FH" "0000079536" "FH" "0000079955" "FH" "0000166559" "FH" "0000265139" "FH" "0000382151" "FH" "0000382152" "FH" "0000394401" "FH" "0000399306" "FH" "0000399307" "FH" ## 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 = 422 "{{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}}" "0000063014" "1" "10" "1" "241677035" "241677035" "subst" "0.0341308" "01164" "FH_000160" "g.241677035T>A" "" "" "" "" "in combination with p.Arg233His (path. Mut.)" "Germline" "" "rs2275162" "0" "" "" "g.241513735T>A" "" "benign" "" "0000063015" "1" "90" "1" "241671943" "241671943" "subst" "0.0000203229" "01164" "FH_000048" "g.241671943C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241508643C>T" "" "pathogenic" "" "0000063016" "1" "10" "1" "241667523" "241667523" "subst" "0.0347332" "01164" "FH_000064" "g.241667523C>T" "" "" "" "" "in combination with p.Arg233His (path. Mut.)" "Germline" "" "rs61737760" "0" "" "" "g.241504223C>T" "" "benign" "" "0000063017" "1" "90" "1" "241667428" "241667428" "subst" "0" "01164" "FH_000166" "g.241667428T>C" "" "" "" "" "p.Asp341Tyr" "Germline" "" "" "0" "" "" "g.241504128T>C" "" "pathogenic" "" "0000063018" "1" "90" "1" "241680610" "241680610" "subst" "0" "01164" "FH_000161" "g.241680610G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241517310G>A" "" "pathogenic" "" "0000063019" "1" "90" "1" "241663793" "241663835" "dup" "0" "01164" "FH_000165" "g.241663793_241663835dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241500493_241500535dup" "" "pathogenic" "" "0000063020" "1" "50" "1" "241672078" "241672078" "subst" "0" "01164" "FH_000038" "g.241672078T>C" "" "" "" "" "HGMD" "Germline" "" "" "0" "" "" "g.241508778T>C" "" "VUS" "" "0000063021" "1" "90" "1" "241671910" "241671910" "subst" "0" "01164" "FH_000163" "g.241671910A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241508610A>G" "" "pathogenic" "" "0000116108" "1" "51" "1" "241683033" "241683033" "subst" "0.000932482" "01713" "FH_000002" "g.241683033G>A" "" "{PMID:Lehtonen:14695314}" "" "C>T -11 of ATG" "" "Germline" "" "" "0" "" "" "g.241519733G>A" "" "VUS" "" "0000116109" "1" "79" "1" "241660857" "241683085" "del" "0" "01713" "FH_000001" "g.(?_241660857)_(241683085_?)del" "" "{PMID:Tomlinson:11865300}" "" "Whole-gene deletion" "not found in 300 chrom" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116110" "1" "79" "1" "241660857" "241683085" "del" "0" "01713" "FH_000001" "g.(?_241660857)_(241683085_?)del" "" "{PMID:Tomlinson:11865300}" "" "Whole-gene deletion" "not found in 300 chrom" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116111" "1" "79" "1" "241660857" "241683085" "del" "0" "01713" "FH_000001" "g.(?_241660857)_(241683085_?)del" "" "{PMID:Alam:16029320}" "" "Whole-gene deletion" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116112" "1" "79" "1" "241660857" "241683085" "del" "0" "01713" "FH_000001" "g.(?_241660857)_(241683085_?)del" "" "{PMID:Alam:12761039}" "" "Whole-gene deletion" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116113" "0" "79" "1" "241660857" "241683085" "del" "0" "01713" "FH_000001" "g.(?_241660857)_(241683085_?)del" "" "{PMID:Smit:20618355}" "" "c.1-? c.*100del" "whole-gene deletion" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116114" "0" "55" "1" "241660857" "241683085" "del" "0" "01713" "FH_000001" "g.(?_241660857)_(241683085_?)del" "" "{PMID:Gardie:21398687}" "" "Whole-gene deletion" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000116115" "0" "77" "1" "241681754" "241683085" "del" "0" "01713" "FH_000110" "g.(241680617_241682890)_(241683085_?)del" "" "{PMID: Ahvenainen:18503824}" "" "deletion exon 1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116116" "0" "77" "1" "241681754" "241683085" "del" "0" "01713" "FH_000111" "g.(241680617_241682890)_(241683085_?)del" "" "{PMID: Ahvenainen:18503824}" "" "Deletion of Exon 1" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000116117" "0" "53" "1" "241682918" "241682918" "subst" "0.000635498" "01656" "FH_000133" "g.241682918C>T" "" "" "" "c.-25G>A" "FH enzymatic activity normal" "Unknown" "" "" "0" "" "" "g.241519618C>T" "" "VUS" "" "0000116118" "0" "13" "1" "241682820" "241682820" "subst" "0" "01656" "FH_000141" "g.241682820G>T" "" "" "" "p.?" "FH enzymatic activity normal" "Unknown" "" "" "0" "" "" "g.241519520G>T" "" "benign" "" "0000116119" "0" "13" "1" "241682820" "241682820" "subst" "0" "01656" "FH_000141" "g.241682820G>T" "" "" "" "p.?" "FH enzymatic activity: normal" "Unknown" "" "" "0" "" "" "g.241519520G>T" "" "benign" "" "0000116120" "1" "55" "1" "" "" "" "" "01713" "FH_000012" "g.?" "" "{PMID:Pollard:15987702}" "" "P131R/exon 2 splice variant" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000116121" "1" "79" "1" "241680610" "241680610" "subst" "0" "01713" "FH_000003" "g.241680610G>T" "" "{PMID:Tomlinson:11865300}, {PMID:Chuang:15761418}" "" "Gln4X, Q4X" "not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241517310G>T" "" "likely pathogenic" "" "0000116122" "1" "79" "1" "241680610" "241680610" "subst" "0" "01713" "FH_000004" "g.241680610G>T" "" "{PMID:Tomlinson:11865300}, {PMID:Chuang:15761418}" "" "Gln4X, Q4X" "not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241517310G>T" "" "likely pathogenic" "" "0000116123" "1" "57" "1" "241680597" "241680597" "subst" "0" "01713" "FH_000005" "g.241680597C>T" "" "{PMID:Kiuru:12183404}" "" "Arg8Glu" "" "Somatic" "" "" "0" "" "" "g.241517297C>T" "" "VUS" "" "0000116124" "0" "79" "1" "241680592" "241680592" "subst" "0" "01713" "FH_000115" "g.241680592C>A" "" "{PMID:Smit:20618355}" "" "" "" "Germline" "" "" "0" "" "" "g.241517292C>A" "" "likely pathogenic" "" "0000116125" "1" "79" "1" "241680571" "241680571" "del" "0" "01713" "FH_000006" "g.241680571del" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "1-bp del. in codon 17" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241517271del" "" "likely pathogenic" "" "0000116126" "1" "79" "1" "241677015" "241680556" "del" "0" "01713" "FH_000007" "g.241677015_241680556del" "" "{PMID:Coughlin:9635293}" "" "66del74bases" "" "De novo" "" "" "0" "" "" "g.241513715_241517256del" "" "likely pathogenic" "" "0000116127" "0" "99" "1" "241680528" "241680528" "del" "0" "01656" "FH_000146" "g.241680528del" "" "" "" "p.Arg31fs" "" "Unknown" "" "" "0" "" "" "g.241517228del" "" "pathogenic" "" "0000116128" "1" "79" "1" "241680517" "241680517" "del" "0" "01713" "FH_000008" "g.241680517del" "" "{PMID:Badeloe:16881969}" "" "233delA/N78fsX85" "" "Germline" "" "" "0" "" "" "g.241517217del" "" "likely pathogenic" "" "0000116129" "1" "79" "1" "241680511" "241680511" "dup" "0" "01713" "FH_000009" "g.241680511dup" "" "{PMID:Wei:15937070}" "" "111insA/K37 Frameshift" "" "Germline" "" "" "0" "" "" "g.241517211dup" "" "likely pathogenic" "" "0000116130" "0" "99" "1" "241680493" "241680494" "del" "0" "01656" "FH_000147" "g.241680493_241680494del" "" "" "" "p.Glu43fs" "FH enzymatic activity 43%" "Unknown" "" "" "0" "" "" "g.241517193_241517194del" "" "pathogenic" "" "0000116131" "1" "59" "1" "241680481" "241680481" "subst" "0" "01713" "FH_000010" "g.241680481C>G" "" "{PMID:Wei:15937070}" "" "(IVS2) 138+1G>C" "" "Germline" "" "" "0" "" "" "g.241517181C>G" "" "VUS" "" "0000116132" "0" "99" "1" "241680474" "241680483" "del" "0" "01656" "FH_000137" "g.241680474_241680483del" "" "" "" "p.?" "FH enzymatic activity 51%" "Unknown" "" "" "0" "" "" "g.241517174_241517183del" "" "pathogenic" "" "0000116133" "1" "11" "1" "241680259" "241680259" "subst" "0" "01713" "FH_000011" "g.241680259T>A" "" "{PMID:Ylisaukko-oja:16477632}" "" "IVS2 222A/T" "" "Germline" "" "" "0" "" "" "g.241516959T>A" "" "benign" "" "0000116134" "1" "59" "1" "241677015" "241677015" "subst" "0" "01713" "FH_000013" "g.241677015T>C" "" "{PMID:Alam:12761039}" "" "(IVS2) A>G -2 IVS1" "" "Germline" "" "" "0" "" "" "g.241513715T>C" "" "VUS" "" "0000116135" "0" "53" "1" "241677100" "241677100" "subst" "0" "01656" "FH_000144" "g.241677100T>G" "" "" "" "p.?" "" "Unknown" "" "" "0" "" "" "g.241513800T>G" "" "VUS" "" "0000116136" "0" "99" "1" "241677006" "241677006" "del" "0" "01656" "FH_000134" "g.241677006del" "" "" "" "p.Ile50fs" "FH enzymatic activity 41%" "Unknown" "" "" "0" "" "" "g.241513706del" "" "pathogenic" "" "0000116137" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Wei:15937070}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116138" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Wei:15937070}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116139" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Wei:15937070}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116140" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Wei:15937070}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116141" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Wei:15937070}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116142" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Wei:15937070}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116143" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Wei:15937070}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116144" "1" "79" "1" "241676980" "241676980" "subst" "0" "01713" "FH_000014" "g.241676980G>A" "" "{PMID:Pollard:15987702}" "" "Arg58X, R58X, AAAins435" "UK, USA, not found in 620 chrom" "Germline" "" "" "0" "" "" "g.241513680G>A" "" "likely pathogenic" "" "0000116145" "0" "99" "1" "241676980" "241676980" "subst" "0" "01656" "FH_000014" "g.241676980G>A" "" "{PMID:Pithukpakorn 2006:16597677}" "" "p.Arg58X" "FH enzymatic activity reduced" "Unknown" "" "" "0" "" "" "g.241513680G>A" "" "pathogenic" "" "0000116146" "1" "57" "1" "241676979" "241676979" "subst" "0" "01713" "FH_000015" "g.241676979C>G" "" "{PMID:Chan:15663510}, {PMID:Heinritz:17908262}" "" "173 CGA>CCA R58P" "" "Germline" "" "" "0" "" "" "g.241513679C>G" "" "VUS" "" "0000116147" "1" "55" "1" "241676972" "241676972" "subst" "0.00671367" "01713" "FH_000016" "g.241676972G>A" "" "{PMID:Barker:12177782}" "" "309C>T (Ala103Ala)" "" "Germline" "" "rs10926501" "0" "" "" "g.241513672G>A" "" "VUS" "" "0000116148" "0" "13" "1" "241676972" "241676972" "subst" "0.00671367" "01656" "FH_000016" "g.241676972G>A" "" "" "" "p.Ala60Ala" "" "Unknown" "" "rs10926501" "0" "" "" "g.241513672G>A" "" "benign" "" "0000116149" "0" "13" "1" "241676972" "241676972" "subst" "0.00671367" "01656" "FH_000016" "g.241676972G>A" "" "" "" "p.Ala60Ala" "Fh activity : normal" "Unknown" "" "rs10926501" "0" "" "" "g.241513672G>A" "" "benign" "" "0000116150" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116151" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116152" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116153" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116154" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116155" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116156" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116157" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116158" "1" "57" "1" "241676961" "241676961" "subst" "0" "01713" "FH_000017" "g.241676961T>G" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Carvajal-Carmona: 16757530}" "" "Asn64Thr, N64T" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513661T>G" "" "VUS" "" "0000116159" "1" "99" "1" "241676932" "241676932" "subst" "0" "01713" "FH_000018" "g.241676932C>G" "" "{PMID:Tomlinson:11865300}" "" "Ala74Pro" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241513632C>G" "" "pathogenic" "" "0000116160" "0" "99" "1" "241676932" "241676932" "subst" "0" "01656" "FH_000018" "g.241676932C>G" "" "" "" "p.Ala74Pro" "Fh enzymatic activity 41%" "Unknown" "" "" "0" "" "" "g.241513632C>G" "" "pathogenic" "" "0000116161" "0" "99" "1" "241676932" "241676932" "subst" "0" "01656" "FH_000018" "g.241676932C>G" "" "" "" "Ala74Pro" "UK, not found in 300 chrom" "Unknown" "" "" "0" "" "" "g.241513632C>G" "" "pathogenic" "" "0000116162" "0" "99" "1" "241676932" "241676932" "subst" "0" "01656" "FH_000018" "g.241676932C>G" "" "" "" "Ala74Pro" "UK, not found in 300 chrom" "Unknown" "" "" "0" "" "" "g.241513632C>G" "" "pathogenic" "" "0000116163" "0" "99" "1" "241676932" "241676932" "subst" "0" "01656" "FH_000018" "g.241676932C>G" "" "" "" "Ala74Pro" "UK, not found in 300 chrom" "Unknown" "" "" "0" "" "" "g.241513632C>G" "" "pathogenic" "" "0000116164" "0" "99" "1" "241676932" "241676932" "subst" "0" "01656" "FH_000018" "g.241676932C>G" "" "" "" "Ala74Pro" "UK, not found in 300 chrom" "Unknown" "" "" "0" "" "" "g.241513632C>G" "" "pathogenic" "" "0000116165" "0" "99" "1" "241676932" "241676932" "subst" "0" "01656" "FH_000018" "g.241676932C>G" "" "" "" "p.Ala74Pro" "Fh enzymatic activity 41%" "Unknown" "" "" "0" "" "" "g.241513632C>G" "" "pathogenic" "" "0000116166" "0" "99" "1" "241676902" "241676905" "delins" "0" "01656" "FH_000145" "g.241676902_241676905delinsT" "" "" "" "p.Glu83fs" "FH enzymatic activity 55%.\r\nSplicesite mutation." "Unknown" "" "" "0" "" "" "g.241513602_241513605delinsT" "" "pathogenic" "" "0000116167" "0" "99" "1" "241676902" "241676905" "delins" "0" "01656" "FH_000145" "g.241676902_241676905delinsT" "" "" "" "p.Glu83fs" "FH enzymatic activity 55%.\r\nSplicesite mutation." "Unknown" "" "" "0" "" "" "g.241513602_241513605delinsT" "" "pathogenic" "" "0000116168" "1" "77" "1" "241676903" "241676903" "del" "0" "01713" "FH_000022" "g.241676903del" "" "{PMID:Badeloe:16881969}" "" "IVS3+1delG, Splice site" "" "Germline" "" "" "0" "" "" "g.241513603del" "" "likely pathogenic" "" "0000116169" "1" "51" "1" "241675465" "241675465" "subst" "0" "01713" "FH_000021" "g.241675465T>A" "" "{PMID:Barker:12177782}" "" "(IVS3) IVS3-22A>T" "" "Germline" "" "" "0" "" "" "g.241512165T>A" "" "VUS" "" "0000116170" "0" "97" "1" "241675445" "241675445" "subst" "0" "01656" "FH_000124" "g.241675445T>C" "" "" "" "p.?" "FH enzymatic activity 53%" "Unknown" "" "" "0" "" "" "g.241512145T>C" "" "pathogenic" "" "0000116171" "0" "97" "1" "241675445" "241675445" "subst" "0" "01656" "FH_000124" "g.241675445T>C" "" "" "" "p.?" "FH enzymatic activity 50%" "Unknown" "" "" "0" "" "" "g.241512145T>C" "" "pathogenic" "" "0000116172" "0" "97" "1" "241675445" "241675445" "subst" "0" "01656" "FH_000124" "g.241675445T>C" "" "" "" "p.?" "FH enzymatic activity 50%" "Unknown" "" "" "0" "" "" "g.241512145T>C" "" "pathogenic" "" "0000116173" "1" "57" "1" "241675427" "241675427" "subst" "0" "01713" "FH_000023" "g.241675427A>G" "" "{PMID:Wei:15937070}" "" "L89S" "not in 320 chrom, reduced FH activity" "Germline" "" "" "0" "" "" "g.241512127A>G" "" "VUS" "" "0000116174" "1" "57" "1" "241675418" "241675418" "subst" "0" "01713" "FH_000024" "g.241675418T>C" "" "{PMID:Chuang:15761418}" "" "H92R" "" "Germline" "" "" "0" "" "" "g.241512118T>C" "" "VUS" "" "0000116175" "1" "59" "1" "241675405" "241675405" "del" "0" "01713" "FH_000025" "g.241675405del" "" "{PMID:Toro 2003:12772087}" "" "Gdel @ 288fs/97rSTOP" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241512105del" "" "VUS" "" "0000116176" "1" "57" "1" "241675398" "241675398" "subst" "0" "01713" "FH_000026" "g.241675398G>T" "" "{PMID:Badeloe:16881969}" "" "424G > A/Q142K" "" "Germline" "" "" "0" "" "" "g.241512098G>T" "" "VUS" "" "0000116177" "0" "99" "1" "241675395" "241675395" "del" "0" "01656" "FH_000150" "g.241675395del" "" "" "" "p.Thr100fs" "Fh enzymatic activity 45%" "Unknown" "" "" "0" "" "" "g.241512095del" "" "pathogenic" "" "0000116178" "1" "79" "1" "241675388" "241675388" "subst" "0" "01713" "FH_000027" "g.241675388G>C" "" "{PMID:Wei:15937070}" "" "S102X" "not found in 320 chrom" "Germline" "" "" "0" "" "" "g.241512088G>C" "" "likely pathogenic" "" "0000116179" "0" "99" "1" "241675380" "241675380" "subst" "0" "01656" "FH_000123" "g.241675380G>A" "" "" "" "p.Gln313X" "" "Unknown" "" "" "0" "" "" "g.241512080G>A" "" "pathogenic" "" "0000116180" "1" "57" "1" "241675349" "241675349" "subst" "0" "01713" "FH_000028" "g.241675349C>A" "" "{PMID:Martinez-Mir:14632190}" "" "S115I" "" "Germline" "" "" "0" "" "" "g.241512049C>A" "" "VUS" "" "0000116181" "1" "57" "1" "241675344" "241675344" "subst" "0" "01713" "FH_000029" "g.241675344T>C" "" "{PMID:Wei:15937070}" "" "R117G" "not found in 320 chrom" "Germline" "" "" "0" "" "" "g.241512044T>C" "" "VUS" "" "0000116182" "10" "95" "1" "241675310" "241675310" "subst" "0.00000406398" "01660" "FH_000154" "g.241675310C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241512010C>T" "" "pathogenic" "" "0000116183" "20" "95" "1" "241675310" "241675310" "subst" "0.00000406398" "01660" "FH_000154" "g.241675310C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241512010C>T" "" "pathogenic" "" "0000116184" "1" "55" "1" "241675301" "241675301" "subst" "0.0000203196" "01713" "FH_000030" "g.241675301G>C" "" "{PMID:Alam:12761039}" "" "392C>G/P131R" "" "Germline" "" "" "0" "" "" "g.241512001G>C" "" "VUS" "" "0000116185" "1" "55" "1" "241675301" "241675301" "subst" "0.0000203196" "01713" "FH_000030" "g.241675301G>C" "" "{PMID:Zeng:16575891}" "" "392C>G/P131R" "" "Germline" "" "" "0" "" "" "g.241512001G>C" "" "VUS" "" "0000116186" "1" "55" "1" "241675301" "241675301" "subst" "0.0000203196" "01713" "FH_000030" "g.241675301G>C" "" "{PMID:Pollard:15987702}" "" "392C>G/P131R" "" "Germline" "" "" "0" "" "" "g.241512001G>C" "" "VUS" "" "0000116187" "0" "55" "1" "241675301" "241675301" "subst" "0.0000203196" "01713" "FH_000030" "g.241675301G>C" "" "Kimonis VE, Shih K, Mandell R, Shih VE." "" "492C to G, P131R" "" "Germline" "" "" "0" "" "" "g.241512001G>C" "" "VUS" "" "0000116188" "1" "57" "1" "241675283" "241675283" "subst" "0" "01713" "FH_000031" "g.241675283T>C" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "His137Arg, H137R" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241511983T>C" "" "VUS" "" "0000116189" "1" "57" "1" "241675283" "241675283" "subst" "0" "01713" "FH_000031" "g.241675283T>C" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "His137Arg, H137R" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241511983T>C" "" "VUS" "" "0000116190" "0" "97" "1" "241675283" "241675283" "subst" "0" "01656" "FH_000031" "g.241675283T>C" "" "" "" "p.His137Arg" "FH enzymatic activity : 45%" "Unknown" "" "" "0" "" "" "g.241511983T>C" "" "pathogenic" "" "0000116191" "1" "59" "1" "241675269" "241675269" "subst" "0" "01713" "FH_000032" "g.241675269G>A" "" "{PMID:Martinez-Mir:14632190}" "" "Q142X" "" "Germline" "" "" "0" "" "" "g.241511969G>A" "" "VUS" "" "0000116192" "1" "97" "1" "241675268" "241675268" "subst" "0" "01713" "FH_000033" "g.241675268T>C" "" "{PMID:Tomlinson:11865300}" "" "Gln142Arg" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241511968T>C" "" "pathogenic" "" "0000116193" "1" "77" "1" "241675266" "241675266" "subst" "0" "01713" "FH_000034" "g.241675266C>T" "" "{PMID:Badeloe:16881969}" "" "IVS4+1G > A, Splice site" "" "Germline" "" "" "0" "" "" "g.241511966C>T" "" "likely pathogenic" "" "0000116194" "0" "97" "1" "241675266" "241675266" "subst" "0" "01656" "FH_000127" "g.241675266C>T" "" "" "" "p.?" "FH enzymatic activity 61%" "Unknown" "" "" "0" "" "" "g.241511966C>T" "" "pathogenic" "" "0000116195" "1" "51" "1" "241675235" "241675235" "subst" "0.000158716" "01713" "FH_000035" "g.241675235T>C" "" "{PMID:Lehtonen:14695314}" "" "(IVS4) IVS3 + 32A>G" "" "Germline" "" "" "0" "" "" "g.241511935T>C" "" "VUS" "" "0000116196" "1" "57" "1" "241672081" "241672081" "subst" "0.00000407232" "01713" "FH_000037" "g.241672081G>A" "" "{PMID:Toro 2003:12772087}" "" "S144L" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241508781G>A" "" "VUS" "" "0000116197" "1" "57" "1" "241672078" "241672078" "subst" "0" "01713" "FH_000038" "g.241672078T>C" "" "{PMID:Toro 2003:12772087}" "" "N145S" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241508778T>C" "" "VUS" "" "0000116198" "1" "57" "1" "241672066" "241672066" "subst" "0" "01713" "FH_000039" "g.241672066G>A" "" "{PMID:Chuang:15761418}" "" "P149L" "" "Germline" "" "" "0" "" "" "g.241508766G>A" "" "VUS" "" "0000116199" "1" "55" "1" "241672057" "241672057" "subst" "0" "01713" "FH_000040" "g.241672057A>G" "" "{PMID:Toro 2003:12772087}" "" "M152T" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241508757A>G" "" "VUS" "" "0000116200" "1" "55" "1" "241672054" "241672054" "subst" "0.0000040661" "01713" "FH_000041" "g.241672054T>C" "" "{PMID:Kiuru:12183404}, {PMID:Lehtonen:16155190}" "" "His153Arg" "Finland, not in 268 chrom" "Germline" "" "" "0" "" "" "g.241508754T>C" "" "VUS" "" "0000116201" "1" "55" "1" "241672054" "241672054" "subst" "0.0000040661" "01713" "FH_000041" "g.241672054T>C" "" "{PMID:Kiuru:12183404}, {PMID:Lehtonen:16155190}" "" "His153Arg" "Finland, not in 268 chrom" "Germline" "" "" "0" "" "" "g.241508754T>C" "" "VUS" "" "0000116202" "1" "55" "1" "241672054" "241672054" "subst" "0.0000040661" "01713" "FH_000041" "g.241672054T>C" "" "{PMID:Kiuru:12183404}, {PMID:Lehtonen:16155190}" "" "His153Arg" "Finland, not in 268 chrom" "Germline" "" "" "0" "" "" "g.241508754T>C" "" "VUS" "" "0000116203" "0" "95" "1" "241672009" "241672009" "subst" "0" "01656" "FH_000143" "g.241672009A>G" "" "" "" "p.Leu168Pro" "FH enzymatic activity 53%" "Unknown" "" "" "0" "" "" "g.241508709A>G" "" "pathogenic" "" "0000116204" "11" "95" "1" "241671988" "241671988" "subst" "0" "01660" "FH_000153" "g.241671988A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241508688A>G" "" "pathogenic" "" "0000116205" "1" "59" "1" "241671971" "241671972" "del" "0" "01713" "FH_000042" "g.241671971_241671972del" "" "{PMID:Tomlinson:11865300}" "" "2-bp del. in codon 181, 541delAG" "Finland, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241508671_241508672del" "" "VUS" "" "0000116206" "1" "59" "1" "241671971" "241671972" "del" "0" "01713" "FH_000042" "g.241671971_241671972del" "" "{PMID:Tomlinson:11865300}" "" "2-bp del. in codon 181, 541delAG" "Finland, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241508671_241508672del" "" "VUS" "" "0000116207" "1" "59" "1" "241671971" "241671972" "del" "0" "01713" "FH_000042" "g.241671971_241671972del" "" "{PMID:Kiuru:12183404}" "" "2-bp del. in codon 181, 541delAG" "Finland, not found in 300 chrom" "Somatic" "" "" "0" "" "" "g.241508671_241508672del" "" "VUS" "" "0000116208" "1" "55" "1" "241671957" "241671959" "del" "0" "01713" "FH_000043" "g.241671957_241671959del" "" "{PMID:Alam:12761039}" "" "delI186" "" "Germline" "" "" "0" "" "" "g.241508657_241508659del" "" "VUS" "" "0000116209" "1" "95" "1" "241671955" "241671955" "subst" "0" "01713" "FH_000044" "g.241671955A>G" "" "{PMID:Alam:12761039}" "" "I186T" "" "Germline" "" "" "0" "" "" "g.241508655A>G" "" "pathogenic" "" "0000116210" "1" "55" "1" "241671955" "241671955" "subst" "0" "01713" "FH_000044" "g.241671955A>G" "" "{PMID:Alam:12761039}" "" "I186T" "" "Germline" "" "" "0" "" "" "g.241508655A>G" "" "VUS" "" "0000116211" "1" "55" "1" "241671951" "241671953" "del" "0" "01713" "FH_000107" "g.241671951_241671953del" "" "{PMID:Tomlinson:11865300}" "" "Lys del. in codon 187" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241508651_241508653del" "" "VUS" "" "0000116212" "1" "97" "1" "241671952" "241671952" "subst" "0.00000406445" "01713" "FH_000045" "g.241671952T>C" "" "{PMID:Tomlinson:11865300}" "" "Lys187Arg, K187R" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241508652T>C" "" "pathogenic" "" "0000116213" "1" "57" "1" "241671952" "241671952" "subst" "0.00000406445" "01713" "FH_000045" "g.241671952T>C" "" "{PMID:Coughlin:9635293}, {PMID:Manning:11117439}" "" "Lys187Arg, K187R" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241508652T>C" "" "VUS" "" "0000116214" "1" "57" "1" "241671952" "241671952" "subst" "0.00000406445" "01713" "FH_000045" "g.241671952T>C" "" "{PMID:Coughlin:9635293}, {PMID:Manning:11117439}" "" "Lys187Arg, K187R" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241508652T>C" "" "VUS" "" "0000116215" "1" "57" "1" "241671952" "241671952" "subst" "0.00000406445" "01713" "FH_000045" "g.241671952T>C" "" "{PMID:Pollard:15987702}" "" "Lys187Arg, K187R" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241508652T>C" "" "VUS" "" "0000116216" "1" "57" "1" "241671952" "241671952" "subst" "0.00000406445" "01713" "FH_000045" "g.241671952T>C" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Toro: 12772087}" "" "Lys187Arg, K187R" "UK, not found in 300 chrom" "Germline" "yes" "" "0" "" "" "g.241508652T>C" "" "VUS" "" "0000116217" "1" "57" "1" "241671952" "241671952" "subst" "0.00000406445" "01713" "FH_000045" "g.241671952T>C" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Toro: 12772087}" "" "Lys187Arg, K187R" "UK, not found in 300 chrom" "Germline" "yes" "" "0" "" "" "g.241508652T>C" "" "VUS" "" "0000116218" "1" "57" "1" "241671952" "241671952" "subst" "0.00000406445" "01713" "FH_000045" "g.241671952T>C" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Toro: 12772087}" "" "Lys187Arg, K187R" "UK, not found in 300 chrom" "Germline" "yes" "" "0" "" "" "g.241508652T>C" "" "VUS" "" "0000116219" "0" "79" "1" "241671947" "241671947" "del" "0" "01713" "FH_000112" "g.241671947del" "" "{PMID:Parmentier:20628236}" "" "" "" "Germline" "" "" "0" "" "" "g.241508647del" "" "likely pathogenic" "" "0000116220" "1" "59" "1" "241671944" "241671944" "subst" "0" "01713" "FH_000046" "g.241671944G>A" "" "{PMID:Rustin:9300800}" "" "R190C" "" "Germline" "" "" "0" "" "" "g.241508644G>A" "" "VUS" "" "0000116221" "1" "59" "1" "241671944" "241671944" "subst" "0" "01713" "FH_000046" "g.241671944G>A" "" "{PMID:Chuang:15761418}, {PMID:Wei:15937070}" "" "R190C" "Not in 320 chrom, Ecuador" "Germline" "" "" "0" "" "" "g.241508644G>A" "" "VUS" "" "0000116222" "1" "59" "1" "241671944" "241671944" "subst" "0" "01713" "FH_000046" "g.241671944G>A" "" "{PMID:Chuang:15761418}, {PMID:Wei:15937070}" "" "R190C" "Not in 320 chrom, Ecuador" "Germline" "" "" "0" "" "" "g.241508644G>A" "" "VUS" "" "0000116223" "0" "79" "1" "241671944" "241671944" "subst" "0" "01713" "FH_000046" "g.241671944G>A" "" "{PMID:Smit:20618355}" "" "R190C" "" "Germline" "" "" "0" "" "" "g.241508644G>A" "" "likely pathogenic" "" "0000116224" "0" "99" "1" "241671944" "241671944" "subst" "0" "01656" "FH_000046" "g.241671944G>A" "" "" "" "p.Arg190Cys" "Fh enzymatic activity 47%" "Unknown" "" "" "0" "" "" "g.241508644G>A" "" "pathogenic" "" "0000116225" "0" "99" "1" "241671944" "241671944" "subst" "0" "01656" "FH_000046" "g.241671944G>A" "" "" "" "p.Arg190Cys" "Fh enzymatic activity 47%" "Unknown" "" "" "0" "" "" "g.241508644G>A" "" "pathogenic" "" "0000116226" "0" "99" "1" "241671944" "241671944" "subst" "0" "01656" "FH_000046" "g.241671944G>A" "" "" "" "p.Arg190Cys" "Fh enzymatic activity 47%" "Unknown" "" "" "0" "" "" "g.241508644G>A" "" "pathogenic" "" "0000116227" "0" "99" "1" "241671944" "241671944" "subst" "0" "01656" "FH_000046" "g.241671944G>A" "" "" "" "p.Arg190Cys" "Fh enzymatic activity 47%" "Unknown" "" "" "0" "" "" "g.241508644G>A" "" "pathogenic" "" "0000116228" "1" "97" "1" "241671943" "241671943" "subst" "0.0000203229" "01713" "FH_000048" "g.241671943C>T" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}, {PMID:Wei: 15937070}, {PMID:Chuang: 15761418}, {PMID:Toro 17960613:Lorenzato: 12772087}" "" "Arg190His, R190H, R233H" "Dominant negative mutation, UK, USA, Spain, not found in 720 chrom" "Germline" "" "" "0" "" "" "g.241508643C>T" "" "pathogenic" "" "0000116229" "1" "57" "1" "241671943" "241671943" "subst" "0.0000203229" "01713" "FH_000048" "g.241671943C>T" "" "{PMID:Loeffen:16151915}" "" "Arg190His, R190H, R233H" "Dominant negative mutation, UK, USA, Spain, not found in 720 chrom" "Germline" "" "" "0" "" "" "g.241508643C>T" "" "VUS" "" "0000116230" "1" "57" "1" "241671943" "241671943" "subst" "0.0000203229" "01713" "FH_000048" "g.241671943C>T" "" "{PMID:Tomlinson:11865300}" "" "Arg190His, R190H, R233H" "Dominant negative mutation, UK, USA, Spain, not found in 720 chrom" "Germline" "" "" "0" "" "" "g.241508643C>T" "" "VUS" "" "0000116231" "1" "57" "1" "241671943" "241671943" "subst" "0.0000203229" "01713" "FH_000048" "g.241671943C>T" "" "{PMID:Pollard:15987702}" "" "Arg190His, R190H, R233H" "Dominant negative mutation, UK, USA, Spain, not found in 720 chrom" "Germline" "" "" "0" "" "" "g.241508643C>T" "" "VUS" "" "0000116232" "0" "57" "1" "241671943" "241671943" "subst" "0.0000203229" "01713" "FH_000048" "g.241671943C>T" "" "{PMID:Huter:18176756}" "" "Arg190His, R190H, R233H" "Dominant negative mutation, UK, USA, Spain, not found in 720 chrom" "Germline" "" "" "0" "" "" "g.241508643C>T" "" "VUS" "" "0000116233" "0" "55" "1" "241671943" "241671943" "subst" "0.0000203229" "01713" "FH_000048" "g.241671943C>T" "" "{PMID:Gatalica:21733559}" "" "Arg190His, R190H, R233H" "Dominant negative mutation, UK, USA, Spain, not found in 720 chrom" "Somatic" "" "" "0" "" "" "g.241508643C>T" "" "VUS" "" "0000116234" "1" "57" "1" "241671943" "241671943" "subst" "0.00000406458" "01713" "FH_000047" "g.241671943C>A" "" "{PMID:Chuang:16309500}, {PMID:Toro 2003:12772087}" "" "R190L" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241508643C>A" "" "VUS" "" "0000116235" "1" "57" "1" "241671943" "241671943" "subst" "0.00000406458" "01713" "FH_000047" "g.241671943C>A" "" "{PMID:Chuang:16309500}, {PMID:Toro 2003:12772087}" "" "R190L" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241508643C>A" "" "VUS" "" "0000116236" "0" "95" "1" "241671937" "241671937" "subst" "0" "01656" "FH_000148" "g.241671937T>C" "" "" "" "p.His192Arg" "FH enzymatic activity 45%" "Unknown" "" "" "0" "" "" "g.241508637T>C" "" "pathogenic" "" "0000116237" "1" "57" "1" "241671926" "241671926" "subst" "0" "01713" "FH_000049" "g.241671926C>T" "" "{PMID:Lehtonen:14695314}" "" "586G>A/Ala196Thr" "" "Somatic" "" "" "0" "" "" "g.241508626C>T" "" "VUS" "" "0000116238" "1" "97" "1" "241671900" "241671900" "subst" "0" "01713" "FH_000050" "g.241671900T>C" "" "{PMID:Lehtonen:14695314}" "" "(IVS5) IVS4+ 3A>G" "Leads to exon 4 deletion" "Somatic" "" "" "0" "" "" "g.241508600T>C" "" "pathogenic" "" "0000116239" "1" "51" "1" "241669483" "241669483" "subst" "0.0000213524" "01713" "FH_000051" "g.241669483A>C" "" "{PMID:Tomlinson:11865300}" "" "-15 splice site 5" "not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241506183A>C" "" "VUS" "" "0000116240" "0" "95" "1" "241669446" "241669446" "subst" "0" "01656" "FH_000139" "g.241669446T>C" "" "" "" "p.Gln211Arg" "FH enzymatic activity 35%" "Unknown" "" "" "0" "" "" "g.241506146T>C" "" "pathogenic" "" "0000116241" "0" "95" "1" "241669413" "241669413" "del" "0" "01656" "FH_000136" "g.241669413del" "" "" "" "p.Met223fs" "FH enzymatic activity 49%" "Unknown" "" "" "0" "" "" "g.241506113del" "" "pathogenic" "" "0000116242" "1" "55" "1" "241669387" "241669387" "subst" "0" "01713" "FH_000053" "g.241669387C>T" "" "{PMID:Ylisaukko-oja:16639410}" "" "691G>A/Ala231Thr" "" "Germline" "" "" "0" "" "" "g.241506087C>T" "" "VUS" "" "0000116243" "0" "55" "1" "241669386" "241669386" "subst" "0" "01713" "FH_000156" "g.241669386G>A" "" "{PMID:Marque:20560959}" "" "" "Low Grantham and high SIFT score - pathogenic?" "Germline" "" "" "0" "" "" "g.241506086G>A" "" "VUS" "" "0000116244" "0" "77" "1" "241669383" "241669383" "subst" "0" "01713" "FH_000114" "g.241669383C>T" "" "{PMID:Smit:20618355}" "" "" "" "Germline" "" "" "0" "" "" "g.241506083C>T" "" "likely pathogenic" "" "0000116245" "1" "97" "1" "241669362" "241669362" "subst" "0" "01713" "FH_000054" "g.241669362C>A" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "Gly239Val, G239V" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241506062C>A" "" "pathogenic" "" "0000116246" "1" "57" "1" "241669362" "241669362" "subst" "0" "01713" "FH_000054" "g.241669362C>A" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "Gly239Val, G239V" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241506062C>A" "" "VUS" "" "0000116247" "1" "57" "1" "241669362" "241669362" "subst" "0" "01713" "FH_000054" "g.241669362C>A" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "Gly239Val, G239V" "UK, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241506062C>A" "" "VUS" "" "0000116248" "1" "59" "1" "241669359" "241669359" "subst" "0" "01713" "FH_000055" "g.241669359A>C" "" "{PMID:Kiuru:12183404}" "" "Leu240Stop" "" "Somatic" "" "" "0" "" "" "g.241506059A>C" "" "VUS" "" "0000116249" "0" "13" "1" "241669256" "241669256" "subst" "0.0144508" "01656" "FH_000135" "g.241669256C>T" "" "" "" "p.?" "FH enzymatic activity normal" "Unknown" "" "" "0" "" "" "g.241505956C>T" "" "benign" "" "0000116250" "0" "13" "1" "241669249" "241669249" "subst" "0" "01656" "FH_000142" "g.241669249C>T" "" "" "" "p.?" "FH enzymatic activity normal" "Unknown" "" "" "0" "" "" "g.241505949C>T" "" "benign" "" "0000116251" "0" "13" "1" "241669249" "241669249" "subst" "0" "01656" "FH_000142" "g.241669249C>T" "" "" "" "p.?" "Fh enzymatic activity: normal" "Unknown" "" "" "0" "" "" "g.241505949C>T" "" "benign" "" "0000116252" "1" "51" "1" "241667759" "241667759" "subst" "0" "01713" "FH_000058" "g.241667759A>T" "" "{PMID:Ylisaukko-oja:16477632}" "" "IVS6-214T/A Intronic" "" "Germline" "" "" "0" "" "" "g.241504459A>T" "" "VUS" "" "0000116253" "1" "59" "1" "241667064" "241667988" "dup" "0" "01713" "FH_000060" "g.241667064_241667988dup" "" "{PMID:Campione:17476294}" "" "exon 7 dup" "" "Germline" "" "" "0" "" "" "g.241503764_241504688dup" "" "VUS" "" "0000116254" "0" "53" "1" "241667584" "241667584" "subst" "0.0015681" "01656" "FH_000125" "g.241667584T>C" "" "" "" "p.?" "FH enzymatic activity normal" "Unknown" "" "" "0" "" "" "g.241504284T>C" "" "VUS" "" "0000116255" "0" "13" "1" "241667566" "241667566" "subst" "0.000217849" "01656" "FH_000128" "g.241667566C>T" "" "" "" "p.?" "" "Unknown" "" "" "0" "" "" "g.241504266C>T" "" "benign" "" "0000116256" "1" "55" "1" "241667546" "241667546" "subst" "0" "01713" "FH_000057" "g.241667546C>T" "" "{PMID:Chuang:15761418}" "" "(IVS6) 905-1G>A" "" "Germline" "" "" "0" "" "" "g.241504246C>T" "" "VUS" "" "0000116257" "1" "55" "1" "241667546" "241667546" "subst" "0" "01713" "FH_000057" "g.241667546C>T" "" "{PMID:Chuang:15761418}" "" "(IVS6) 905-1G>A" "" "Germline" "" "" "0" "" "" "g.241504246C>T" "" "VUS" "" "0000116258" "1" "55" "1" "241667546" "241667546" "subst" "0" "01713" "FH_000057" "g.241667546C>T" "" "{PMID:Chuang:15761418}" "" "(IVS6) 905-1G>A" "" "Germline" "" "" "0" "" "" "g.241504246C>T" "" "VUS" "" "0000116259" "1" "55" "1" "241667546" "241667546" "subst" "0" "01713" "FH_000057" "g.241667546C>T" "" "{PMID:Chuang:15761418}" "" "(IVS6) 905-1G>A" "" "Germline" "" "" "0" "" "" "g.241504246C>T" "" "VUS" "" "0000116260" "0" "75" "1" "241667542" "241667542" "subst" "0.00000815082" "01713" "FH_000113" "g.241667542A>G" "" "Kimonis VE, Shih K, Mandell R, Shih VE. Clinical, Radiological and Molecular Studies in a Girl with Fumarase Deficiency. J Inherit Metab Dis. 2000; 23: 112." "" "779T to C, L260S" "" "Germline" "" "" "0" "" "" "g.241504242A>G" "" "likely pathogenic" "" "0000116261" "1" "59" "1" "241667540" "241667541" "del" "0" "01713" "FH_000061" "g.241667540_241667541del" "" "{PMID:Toro 2003:12772087}" "" "delGC @ 780/L260 STOP fs" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504240_241504241del" "" "VUS" "" "0000116262" "1" "59" "1" "241667533" "241667539" "del" "0" "01713" "FH_000062" "g.241667533_241667539del" "" "{PMID:Toro 2003:12772087}, {PMID:Matyakhina:15741255}" "" "7-bp del @ 782û788/P261 STOP fs" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504233_241504239del" "" "VUS" "" "0000116263" "1" "57" "1" "241667528" "241667528" "subst" "0" "01713" "FH_000063" "g.241667528C>T" "" "{PMID:Coughlin:9635293}" "" "A265T" "" "Germline" "" "" "0" "" "" "g.241504228C>T" "" "VUS" "" "0000116264" "1" "51" "1" "241667523" "241667523" "subst" "0.0347332" "01713" "FH_000064" "g.241667523C>T" "" "{PMID:Barker:12177782}, {PMID:Lehtonen:14695314}" "" "927G>A, 798G>A" "" "Germline" "" "" "0" "" "" "g.241504223C>T" "" "VUS" "" "0000116265" "1" "57" "1" "241667522" "241667522" "subst" "0" "01713" "FH_000065" "g.241667522T>A" "" "{PMID:Alam:16029320}" "" "N267Y" "" "Germline" "" "" "0" "" "" "g.241504222T>A" "" "VUS" "" "0000116266" "0" "95" "1" "241667515" "241667515" "subst" "0" "01656" "FH_000149" "g.241667515A>G" "" "" "" "p.Phe269Ser" "FH enzymatic activity: 36%" "Unknown" "" "" "0" "" "" "g.241504215A>G" "" "pathogenic" "" "0000116267" "1" "57" "1" "241667515" "241667515" "subst" "0" "01713" "FH_000066" "g.241667515A>C" "" "{PMID:Coughlin:9635293}" "" "F269C" "Ashkenazi Jewish" "Germline" "" "" "0" "" "" "g.241504215A>C" "" "VUS" "" "0000116268" "0" "97" "1" "241667513" "241667513" "subst" "0" "01656" "FH_000119" "g.241667513C>A" "" "" "" "p.Glu270X" "FH enzymatic activity 53%" "Unknown" "" "" "0" "" "" "g.241504213C>A" "" "pathogenic" "" "0000116269" "0" "97" "1" "241667513" "241667513" "subst" "0" "01656" "FH_000119" "g.241667513C>A" "" "" "" "p.Glu270X" "FH enzymatic activity 53%" "Unknown" "" "" "0" "" "" "g.241504213C>A" "" "pathogenic" "" "0000116270" "0" "97" "1" "241667512" "241667512" "del" "0" "01656" "FH_000130" "g.241667512del" "" "" "" "p.Ala271fs" "" "Unknown" "" "" "0" "" "" "g.241504212del" "" "pathogenic" "" "0000116271" "0" "95" "1" "241667506" "241667506" "subst" "0" "01656" "FH_000131" "g.241667506A>G" "" "" "" "p.Leu272Pro" "FH enzymatic activity 46%" "Unknown" "" "" "0" "" "" "g.241504206A>G" "" "pathogenic" "" "0000116272" "0" "95" "1" "241667500" "241667500" "subst" "0" "01656" "FH_000140" "g.241667500G>A" "" "" "" "p.Ala274Val" "FH enzymatic activity 47%" "Unknown" "" "" "0" "" "" "g.241504200G>A" "" "pathogenic" "" "0000116273" "1" "57" "1" "241667498" "241667498" "subst" "0" "01713" "FH_000067" "g.241667498G>A" "" "{PMID:Toro 2003:12772087}, {PMID:Martinez-Mir:14632190}" "" "H275Y" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504198G>A" "" "VUS" "" "0000116274" "1" "77" "1" "241667498" "241667498" "subst" "0" "01713" "FH_000067" "g.241667498G>A" "" "{PMID:Toro 2003:12772087}, {PMID:Martinez-Mir:14632190}" "" "" "" "Germline" "" "" "0" "" "" "g.241504198G>A" "" "likely pathogenic" "" "0000116275" "0" "77" "1" "241667498" "241667498" "subst" "0" "01713" "FH_000067" "g.241667498G>A" "" "{PMID:Smit:20618355}" "" "" "" "Germline" "" "" "0" "" "" "g.241504198G>A" "" "likely pathogenic" "" "0000116276" "0" "97" "1" "241667498" "241667498" "subst" "0" "01656" "FH_000067" "g.241667498G>A" "" "{PMID:Pithukpakorn 2006:16597677}" "" "p.His275Tyr" "FH enzymatic activity reduced" "Unknown" "" "" "0" "" "" "g.241504198G>A" "" "pathogenic" "" "0000116277" "1" "55" "1" "241667497" "241667497" "subst" "0.00000406497" "01713" "FH_000068" "g.241667497T>A" "" "{PMID:Deschauer:16510303}" "" "H275L" "" "Germline" "" "" "0" "" "" "g.241504197T>A" "" "VUS" "" "0000116278" "1" "57" "1" "241667485" "241667485" "subst" "0" "01713" "FH_000069" "g.241667485A>T" "" "{PMID:Toro 2003:12772087}" "" "V279D" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504185A>T" "" "VUS" "" "0000116279" "1" "57" "1" "241667462" "241667462" "subst" "0" "01713" "FH_000070" "g.241667462T>G" "" "{PMID:Chuang:16309500}" "" "T287P" "not found in 110 chrom" "Germline" "" "" "0" "" "" "g.241504162T>G" "" "VUS" "" "0000116280" "0" "59" "1" "241667452" "241667452" "subst" "0" "01713" "FH_000118" "g.241667452C>T" "" "" "" "p.C290Y" "Japan, not detected in 200 control alleles" "Germline" "" "" "0" "" "" "g.241504152C>T" "" "VUS" "" "0000116281" "0" "99" "1" "241667452" "241667452" "subst" "0" "01656" "FH_000118" "g.241667452C>T" "" "" "" "p.Cys290Tyr" "FH enzymatic activity 40%" "Unknown" "" "" "0" "" "" "g.241504152C>T" "" "pathogenic" "" "0000116282" "0" "77" "1" "241667448" "241667448" "subst" "0" "01713" "FH_000109" "g.241667448A>C" "" "{PMID: Badeloe:18514489}" "" "S334R" "" "Germline" "" "" "0" "" "" "g.241504148A>C" "" "likely pathogenic" "" "0000116283" "1" "57" "1" "241667446" "241667446" "subst" "0" "01713" "FH_000071" "g.241667446A>G" "" "{PMID:Toro 2003:12772087}" "" "L292P" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504146A>G" "" "VUS" "" "0000116284" "1" "57" "1" "241667430" "241667430" "subst" "0.0000121916" "01713" "FH_000072" "g.241667430A>T" "" "{PMID:Toro 2003:12772087}, {PMID:Wei:15937070}" "" "c.(T891A), N297D, c.(891T>A), N297K" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504130A>T" "" "VUS" "" "0000116285" "1" "57" "1" "241667430" "241667430" "subst" "0.0000121916" "01713" "FH_000072" "g.241667430A>T" "" "{PMID:Toro 2003:12772087}, {PMID:Wei:15937070}" "" "c.(T891A), N297D, c.(891T>A), N297K" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504130A>T" "" "VUS" "" "0000116286" "0" "55" "1" "241667429" "241667429" "subst" "0" "01713" "FH_000157" "g.241667429C>A" "" "{PMID:Rongioletti:21051878}" "" "" "" "Germline" "" "" "0" "" "" "g.241504129C>A" "" "VUS" "" "0000116287" "1" "59" "1" "241667423" "241667423" "subst" "0.00000406405" "01713" "FH_000073" "g.241667423G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "Arg300X, R300X, Arg300Stop" "Finland, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241504123G>A" "" "VUS" "" "0000116288" "1" "59" "1" "241667423" "241667423" "subst" "0.00000406405" "01713" "FH_000073" "g.241667423G>A" "" "{PMID:Tomlinson:11865300}, {PMID:Alam:12761039}" "" "Arg300X, R300X, Arg300Stop" "Finland, not found in 300 chrom" "Germline" "" "" "0" "" "" "g.241504123G>A" "" "VUS" "" "0000116289" "1" "59" "1" "241667423" "241667423" "subst" "0.00000406405" "01713" "FH_000073" "g.241667423G>A" "" "{PMID:Kiuru:12183404}" "" "Arg300X, R300X, Arg300Stop" "Finland, not found in 300 chrom" "Somatic" "" "" "0" "" "" "g.241504123G>A" "" "VUS" "" "0000116290" "0" "99" "1" "241667423" "241667423" "subst" "0.00000406405" "01656" "FH_000073" "g.241667423G>A" "" "" "" "p.Arg300X" "FH enzymatic activity 61%" "Unknown" "" "" "0" "" "" "g.241504123G>A" "" "pathogenic" "" "0000116291" "1" "97" "1" "241667387" "241667387" "subst" "0" "01713" "FH_000075" "g.241667387C>T" "" "{PMID:Alam:12761039}" "" "E312K" "" "Germline" "" "" "0" "" "" "g.241504087C>T" "" "pathogenic" "" "0000116292" "1" "57" "1" "241667367" "241667367" "subst" "0" "01713" "FH_000078" "g.241667367A>T" "" "{PMID:Alam:12761039}" "" "N318K" "" "Germline" "" "" "0" "" "" "g.241504067A>T" "" "VUS" "" "0000116293" "1" "57" "1" "241667367" "241667367" "subst" "0" "01713" "FH_000078" "g.241667367A>T" "" "{PMID:Alam:12761039}" "" "N318K" "" "Germline" "" "" "0" "" "" "g.241504067A>T" "" "VUS" "" "0000116294" "1" "59" "1" "241667366" "241667369" "del" "0" "01713" "FH_000077" "g.241667366_241667369del" "" "{PMID:Martinez-Mir:14632190}" "" "4 -bp del aa 318 and 319" "" "Germline" "" "" "0" "" "" "g.241504066_241504069del" "" "VUS" "" "0000116295" "1" "55" "1" "241667366" "241667366" "subst" "0" "01713" "FH_000079" "g.241667366C>G" "" "{PMID:Bourgeron:8200987}" "" "Glu319Gln" "" "Germline" "" "" "0" "" "" "g.241504066C>G" "" "VUS" "" "0000116296" "1" "57" "1" "241667357" "241667357" "subst" "0" "01713" "FH_000080" "g.241667357T>C" "" "{PMID:Toro 2003:12772087}, {PMID:Wei:15937070}" "" "S322G" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504057T>C" "" "VUS" "" "0000116297" "1" "57" "1" "241667357" "241667357" "subst" "0" "01713" "FH_000080" "g.241667357T>C" "" "{PMID:Toro 2003:12772087}, {PMID:Wei:15937070}" "" "S322G" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504057T>C" "" "VUS" "" "0000116298" "1" "57" "1" "241667353" "241667353" "subst" "0" "01713" "FH_000081" "g.241667353C>T" "" "{PMID:Toro 2003:12772087}, {PMID:Alam:12761039}" "" "S323N" "UK, USA, not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504053C>T" "" "VUS" "" "0000116299" "1" "57" "1" "241667353" "241667353" "subst" "0" "01713" "FH_000081" "g.241667353C>T" "" "{PMID:Toro 2003:12772087}, {PMID:Alam:12761039}" "" "S323N" "UK, USA, not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241504053C>T" "" "VUS" "" "0000116300" "0" "77" "1" "241667347" "241667347" "subst" "0" "01713" "FH_000108" "g.241667347A>G" "" "{PMID: Badeloe:18514489}" "" "M368T" "" "Germline" "" "" "0" "" "" "g.241504047A>G" "" "likely pathogenic" "" "0000116301" "1" "57" "1" "241667345" "241667345" "subst" "0" "01713" "FH_000082" "g.241667345G>A" "" "{PMID:Maradin:16972175}" "" "c.976C>T" "" "Germline" "" "" "0" "" "" "g.241504045G>A" "" "VUS" "" "0000116302" "0" "13" "1" "241667244" "241667244" "subst" "0" "01656" "FH_000120" "g.241667244G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241503944G>T" "" "benign" "" "0000116303" "0" "13" "1" "241667244" "241667244" "subst" "0" "01656" "FH_000120" "g.241667244G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241503944G>T" "" "benign" "" "0000116304" "0" "13" "1" "241667233" "241667233" "subst" "0" "01656" "FH_000121" "g.241667233C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241503933C>T" "" "benign" "" "0000116305" "0" "13" "1" "241667233" "241667233" "subst" "0" "01656" "FH_000121" "g.241667233C>T" "" "" "" "p.?" "" "Unknown" "" "rs4660099" "0" "" "" "g.241503933C>T" "" "benign" "" "0000116306" "0" "93" "1" "241665856" "241665856" "del" "0" "01656" "FH_000132" "g.241665856del" "" "" "" "p.Thr332fs" "" "Unknown" "" "" "0" "" "" "g.241502556del" "" "pathogenic" "" "0000116307" "0" "95" "1" "241665862" "241665862" "subst" "0" "01656" "FH_000151" "g.241665862T>C" "" "" "" "p.Asn330Asp" "Fh enzymatic activity: 47%" "Unknown" "" "" "0" "" "" "g.241502562T>C" "" "pathogenic" "" "0000116308" "1" "59" "1" "241665861" "241665861" "subst" "0" "01713" "FH_000083" "g.241665861T>C" "" "{PMID:Lehtonen:17270241}" "" "N330S" "" "Germline" "" "" "0" "" "" "g.241502561T>C" "" "VUS" "" "0000116309" "0" "93" "1" "241665861" "241665861" "subst" "0" "01656" "FH_000083" "g.241665861T>C" "" "" "" "p.Asn330Ser" "Fh enzymatic activity 39%" "Unknown" "" "" "0" "" "" "g.241502561T>C" "" "pathogenic" "" "0000116310" "0" "55" "1" "241665859" "241665859" "subst" "0.00000406213" "01713" "FH_000155" "g.241665859G>A" "" "{PMID:Gatalica:21733559}" "" "P374S" "" "Somatic" "" "" "0" "" "" "g.241502559G>A" "" "VUS" "" "0000116311" "1" "57" "1" "241665852" "241665852" "subst" "0.0000609286" "01713" "FH_000084" "g.241665852T>G" "" "{PMID:Zeman:10896297}" "" "1127A>C/Gln376Pro,Q13P/998A>C, Q333P" "" "Germline" "" "" "0" "" "" "g.241502552T>G" "" "VUS" "" "0000116312" "1" "57" "1" "241665852" "241665852" "subst" "0.0000609286" "01713" "FH_000084" "g.241665852T>G" "" "{PMID:Remes:15221078}" "" "1127A>C/Gln376Pro,Q13P/998A>C, Q333P" "" "Germline" "" "" "0" "" "" "g.241502552T>G" "" "VUS" "" "0000116313" "1" "55" "1" "241665852" "241665852" "subst" "0.0000609286" "01713" "FH_000084" "g.241665852T>G" "" "{PMID:Phillips:16876016}" "" "1127A>C/Gln376Pro,Q13P/998A>C, Q333P" "" "Germline" "" "" "0" "" "" "g.241502552T>G" "" "VUS" "" "0000116314" "1" "59" "1" "241665845" "241665846" "dup" "0" "01713" "FH_000085" "g.241665845_241665846dup" "" "{PMID:Toro 2003:12772087}" "" "2-bp ins@1004/E335 STOP fs" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "" "" "VUS" "" "0000116315" "0" "77" "1" "241665835" "241665835" "subst" "0" "01713" "FH_000116" "g.241665835T>C" "" "{PMID:Smit:20618355}" "" "" "" "Germline" "" "" "0" "" "" "g.241502535T>C" "" "likely pathogenic" "" "0000116316" "1" "55" "1" "241665825" "241665825" "subst" "0" "01713" "FH_000086" "g.241665825G>T" "" "{PMID:Wei:15937070}" "" "A342D" "not in 320 chrom" "Germline" "" "" "0" "" "" "g.241502525G>T" "" "VUS" "" "0000116317" "0" "99" "1" "241665822" "241665822" "subst" "0" "01656" "FH_000126" "g.241665822T>C" "" "" "" "p.Gln343Arg" "FH enzymatic activity 61%" "Unknown" "" "" "0" "" "" "g.241502522T>C" "" "pathogenic" "" "0000116318" "0" "99" "1" "241665822" "241665822" "subst" "0" "01656" "FH_000126" "g.241665822T>C" "" "" "" "p.Gln343Arg" "FH enzymatic activity 61%" "Unknown" "" "" "0" "" "" "g.241502522T>C" "" "pathogenic" "" "0000116319" "1" "55" "1" "241665819" "241665821" "del" "0" "01713" "FH_000074" "g.241665819_241665821del" "" "{PMID:Maradin:16972175}" "" "c.1029 1031delAGT" "" "Germline" "" "" "0" "" "" "g.241502519_241502521del" "" "VUS" "" "0000116320" "1" "55" "1" "241665801" "241665806" "del" "0" "01713" "FH_000088" "g.241665801_241665806del" "" "{PMID:Chuang:15761418}" "" "1176del6" "" "Germline" "" "" "0" "" "" "g.241502501_241502506del" "" "VUS" "" "0000116321" "1" "55" "1" "241665799" "241665799" "subst" "0" "01713" "FH_000089" "g.241665799C>G" "" "{PMID:Martinez-Mir:14632190}" "" "V351L" "" "Germline" "yes" "" "0" "" "" "g.241502499C>G" "" "VUS" "" "0000116322" "1" "99" "1" "241665790" "241665790" "subst" "0.00000406276" "01713" "FH_000090" "g.241665790C>T" "" "{PMID:Alam:12761039}, {PMID:Alrashdi:19967458}" "" "G354R" "" "Germline" "" "" "0" "" "" "g.241502490C>T" "" "pathogenic" "" "0000116323" "0" "79" "1" "241665790" "241665790" "subst" "0.00000406276" "01713" "FH_000090" "g.241665790C>T" "" "{PMID:Badeloe:19183174}" "" "" "" "Germline" "" "" "0" "" "" "g.241502490C>T" "" "likely pathogenic" "" "0000116324" "0" "99" "1" "241665790" "241665790" "subst" "0.00000406276" "01656" "FH_000090" "g.241665790C>T" "" "" "" "p.Gly354Arg" "FH enzymatic activity 51%" "Unknown" "" "" "0" "" "" "g.241502490C>T" "" "pathogenic" "" "0000116325" "0" "99" "1" "241665790" "241665790" "subst" "0.00000406276" "01656" "FH_000090" "g.241665790C>T" "" "" "" "p.Gly354Arg" "FH enzymatic activity 51%" "Unknown" "" "" "0" "" "" "g.241502490C>T" "" "pathogenic" "" "0000116326" "0" "99" "1" "241665790" "241665790" "subst" "0.00000406276" "01656" "FH_000090" "g.241665790C>T" "" "" "" "G354R" "FH enzymatic activity 51%" "Unknown" "" "" "0" "" "" "g.241502490C>T" "" "pathogenic" "" "0000116327" "0" "55" "1" "241665790" "241665790" "subst" "0.00000406276" "01713" "FH_000090" "g.241665790C>T" "" "{PMID:Garg:21753700}" "" "G354R, c.1060G to A" "" "Germline" "" "" "0" "" "" "g.241502490C>T" "" "VUS" "" "0000116328" "1" "57" "1" "241665775" "241665775" "subst" "0.0000121895" "01713" "FH_000076" "g.241665775G>A" "" "{PMID:Phillips:16876016}" "" "H360C/1078C>T" "" "Germline" "" "" "0" "" "" "g.241502475G>A" "" "VUS" "" "0000116329" "1" "59" "1" "241665769" "241665769" "subst" "0.00000406296" "01713" "FH_000091" "g.241665769C>A" "" "{PMID:Badeloe:16881969}" "" "1210G > T/E404X" "" "Germline" "" "" "0" "" "" "g.241502469C>A" "" "VUS" "" "0000116330" "0" "99" "1" "241665745" "241665745" "del" "0" "01713" "FH_000117" "g.241665745del" "" "{PMID:Smit:20618355}" "" "" "" "Germline" "" "" "0" "" "" "g.241502445del" "" "pathogenic" "" "0000116331" "0" "95" "1" "241663892" "241663892" "subst" "0" "01656" "FH_000138" "g.241663892T>C" "" "" "" "p.?" "Fh enzymatic activity 44%" "Unknown" "" "" "0" "" "" "g.241500592T>C" "" "pathogenic" "" "0000116332" "1" "59" "1" "241663890" "241663890" "del" "0" "01713" "FH_000092" "g.241663890del" "" "{PMID:Badeloe:16881969}" "" "1238delA/I413fsX449" "" "Germline" "" "" "0" "" "" "g.241500590del" "" "VUS" "" "0000116333" "0" "55" "1" "241663875" "241663877" "del" "0" "01713" "FH_000158" "g.241663875_241663877del" "" "{PMID:Gardie:21398687}" "" "p.Leu374_His375delinsTyr" "" "Germline" "" "" "0" "" "" "g.241500575_241500577del" "" "VUS" "" "0000116334" "1" "57" "1" "241663872" "241663872" "subst" "0" "01713" "FH_000093" "g.241663872A>G" "" "{PMID:Wei:15937070}" "" "S376P" "not in 320 chrom" "Germline" "" "" "0" "" "" "g.241500572A>G" "" "VUS" "" "0000116335" "1" "51" "1" "241663860" "241663860" "subst" "0" "01713" "FH_000094" "g.241663860G>A" "" "{PMID:Ylisaukko-oja:16477632}" "" "1299C>T" "" "Germline" "" "" "0" "" "" "g.241500560G>A" "" "VUS" "" "0000116336" "1" "57" "1" "241663853" "241663853" "subst" "0" "01713" "FH_000095" "g.241663853T>A" "" "{PMID:Coughlin:9635293}" "" "D383V" "" "Germline" "" "" "0" "" "" "g.241500553T>A" "" "VUS" "" "0000116337" "1" "57" "1" "241663853" "241663853" "subst" "0" "01713" "FH_000095" "g.241663853T>A" "" "{PMID:Coughlin:9635293}" "" "D383V" "" "Germline" "" "" "0" "" "" "g.241500553T>A" "" "VUS" "" "0000116338" "1" "59" "1" "241663836" "241663836" "del" "0" "01713" "FH_000096" "g.241663836del" "" "{PMID:Toro 2003:12772087}" "" "delA @ 1162/T388 STOP fs" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241500536del" "" "VUS" "" "0000116339" "1" "59" "1" "241663834" "241663834" "del" "0" "01713" "FH_000087" "g.241663834del" "" "{PMID:Refae:17392716}" "" "1164delA" "" "Germline" "" "" "0" "" "" "g.241500534del" "" "VUS" "" "0000116340" "0" "13" "1" "241663825" "241663825" "subst" "0.00737977" "01656" "FH_000129" "g.241663825G>A" "" "" "" "p.Cys391Cys" "" "Unknown" "" "rs2070080" "0" "" "" "g.241500525G>A" "" "benign" "" "0000116341" "0" "13" "1" "241663825" "241663825" "subst" "0.00737977" "01656" "FH_000129" "g.241663825G>A" "" "" "" "p.Cys391Cys" "Fh activity : normal" "Unknown" "" "rs12087951" "0" "" "" "g.241500525G>A" "" "benign" "" "0000116342" "1" "55" "1" "241663811" "241663811" "subst" "0" "01713" "FH_000097" "g.241663811T>G" "" "{PMID:Wei:15937070}, {PMID:Yang:19963135}" "" "Q396P, nucleotide 1187 in exon 8, Gln396Pro" "not in 320 chrom; Pathogenic? UOK 262 cell line" "Germline" "" "" "0" "" "" "g.241500511T>G" "" "VUS" "" "0000116343" "1" "55" "1" "241663780" "241663780" "del" "0" "01713" "FH_000098" "g.241663780del" "" "{PMID:Alam:12761039}" "" "Codon 406 fs, 1-bp del. in codon 507(???)" "" "Germline" "" "" "0" "" "" "g.241500480del" "" "VUS" "" "0000116344" "1" "55" "1" "241663780" "241663780" "del" "0" "01713" "FH_000098" "g.241663780del" "" "{PMID:Alam:12761039}" "" "Codon 406 fs, 1-bp del. in codon 507(???)" "" "Germline" "" "" "0" "" "" "g.241500480del" "" "VUS" "" "0000116345" "1" "55" "1" "241663780" "241663780" "del" "0" "01713" "FH_000098" "g.241663780del" "" "{PMID:Alam:12761039}" "" "Codon 406 fs, 1-bp del. in codon 507(???)" "" "Germline" "" "" "0" "" "" "g.241500480del" "" "VUS" "" "0000116346" "1" "55" "1" "241663780" "241663780" "del" "0" "01713" "FH_000098" "g.241663780del" "" "{PMID:Alam:12761039}" "" "Codon 406 fs, 1-bp del. in codon 507(???)" "" "Germline" "" "" "0" "" "" "g.241500480del" "" "VUS" "" "0000116347" "1" "55" "1" "241663780" "241663780" "del" "0" "01713" "FH_000098" "g.241663780del" "" "{PMID:Alam:12761039}" "" "Codon 406 fs, 1-bp del. in codon 507(???)" "" "Germline" "" "" "0" "" "" "g.241500480del" "" "VUS" "" "0000116348" "1" "55" "1" "241663780" "241663780" "del" "0" "01713" "FH_000098" "g.241663780del" "" "{PMID:Alam:12761039}" "" "Codon 406 fs, 1-bp del. in codon 507(???)" "" "Germline" "" "" "0" "" "" "g.241500480del" "" "VUS" "" "0000116349" "1" "55" "1" "241663780" "241663780" "del" "0" "01713" "FH_000098" "g.241663780del" "" "{PMID:Tomlinson:11865300}" "" "Codon 406 fs, 1-bp del. in codon 507(???)" "not found in 150 controls" "Germline" "" "" "0" "" "" "g.241500480del" "" "VUS" "" "0000116350" "10" "95" "1" "241663769" "241663769" "subst" "0" "01660" "FH_000152" "g.241663769A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241500469A>G" "" "pathogenic" "" "0000116351" "20" "95" "1" "241663769" "241663769" "subst" "0" "01660" "FH_000152" "g.241663769A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.241500469A>G" "" "pathogenic" "" "0000116352" "1" "55" "1" "241663765" "241663765" "subst" "0.00000406246" "01713" "FH_000099" "g.241663765C>T" "" "{PMID:Carvajal-Carmona:16757530}" "" "M411I" "Somatic?, LOH" "Somatic" "" "" "0" "" "" "g.241500465C>T" "" "VUS" "" "0000116353" "1" "59" "1" "241661267" "241661267" "subst" "0" "01713" "FH_000100" "g.241661267T>C" "" "{PMID:Toro 2003:12772087}" "" "Y422C" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241497967T>C" "" "VUS" "" "0000116354" "1" "59" "1" "241661267" "241661267" "subst" "0" "01713" "FH_000100" "g.241661267T>C" "" "{PMID:Toro 2003:12772087}" "" "Y422C" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241497967T>C" "" "VUS" "" "0000116355" "0" "99" "1" "241661267" "241661267" "subst" "0" "01656" "FH_000100" "g.241661267T>C" "" "{PMID:Pithukpakorn 2006:16597677}" "" "p.Tyr422Cys" "FH enzymatic activity: reduced" "Unknown" "" "" "0" "" "" "g.241497967T>C" "" "pathogenic" "" "0000116356" "1" "55" "1" "241661261" "241661261" "subst" "0" "01713" "FH_000101" "g.241661261T>C" "" "{PMID:Ylisaukko-oja:16477632}" "" "1432A>G/K424R" "" "Germline" "" "rs2275162" "0" "" "" "g.241497961T>C" "" "VUS" "" "0000116357" "1" "55" "1" "241661225" "241661232" "dup" "0" "01713" "FH_000102" "g.241661225_241661232dup" "" "{PMID:Toro 2003:12772087}" "" "8-bp dup @ 1300 to 1307/S437 STOP fs" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241497925_241497932dup" "" "VUS" "" "0000116358" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Rustin:9300800}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116359" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Coughlin:9635293}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116360" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Coughlin:9635293}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116361" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Coughlin:9635293}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116362" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Loeffen:16151915}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116363" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Pollard:15987702}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116364" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Deschauer:16510303}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116365" "1" "55" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Ylisaukko-oja:16639410}" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Germline" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000116366" "21" "95" "1" "241661230" "241661232" "dup" "0" "01660" "FH_000103" "g.241661230_241661232dup" "" "" "" "1302insAAA/Lys434ins, insK477, 435insK, 435insAAA" "" "Unknown" "" "" "0" "" "" "g.241497930_241497932dup" "" "pathogenic" "" "0000116367" "1" "55" "1" "241661193" "241661193" "del" "0" "01713" "FH_000104" "g.241661193del" "" "{PMID:Toro 2003:12772087}" "" "delG @ 1339/G447 STOP fs" "not found in 420 chrom" "Germline" "yes" "" "0" "" "" "g.241497893del" "" "VUS" "" "0000116368" "1" "59" "1" "241661162" "241661162" "subst" "0" "01713" "FH_000105" "g.241661162C>T" "" "{PMID:Coughlin:9635293}" "" "W458X" "" "De novo" "" "" "0" "" "" "g.241497862C>T" "" "VUS" "" "0000116369" "0" "99" "1" "241661161" "241661161" "subst" "0" "01656" "FH_000122" "g.241661161C>T" "" "" "" "p.Trp457X" "FH Enzymatic activity for homozygous <2%" "Unknown" "" "" "0" "" "" "g.241497861C>T" "" "pathogenic" "" "0000116370" "1" "95" "1" "241661141" "241661141" "subst" "0" "01713" "FH_000106" "g.241661141A>G" "" "{PMID:Alam:12761039}" "" "L464P" "" "Germline" "" "" "0" "" "" "g.241497841A>G" "" "pathogenic" "" "0000116371" "0" "55" "1" "241683033" "241683033" "subst" "0.000932482" "01656" "FH_000002" "g.241683033G>A" "" "" "" "p.?" "FH enzymatic activity : normal" "Unknown" "" "" "0" "" "" "g.241519733G>A" "" "VUS" "" "0000128181" "1" "50" "1" "241665837" "241665837" "subst" "0" "01713" "FH_000177" "g.241665837G>A" "" "{PMID:Castro-Vega:24334767}" "" "" "LOH" "Unknown" "" "" "0" "" "" "g.241502537G>A" "" "VUS" "" "0000128182" "1" "50" "1" "241672061" "241672061" "subst" "0.0000528718" "01713" "FH_000173" "g.241672061C>T" "" "{PMID:Castro-Vega:24334767}" "" "" "" "Unknown" "" "" "0" "" "" "g.241508761C>T" "" "VUS" "" "0000128183" "1" "50" "1" "241667464" "241667464" "subst" "0.0000162578" "01713" "FH_000169" "g.241667464T>C" "" "{PMID:Castro-Vega:24334767}" "" "" "" "Unknown" "" "" "0" "" "" "g.241504164T>C" "" "VUS" "" "0000128184" "1" "50" "1" "241675403" "241675403" "subst" "0" "01713" "FH_000174" "g.241675403A>C" "" "{PMID:España:25354562}" "" "" "" "Unknown" "" "" "0" "" "" "g.241512103A>C" "" "VUS" "" "0000128185" "1" "50" "1" "241669425" "241669425" "subst" "0" "01713" "FH_000171" "g.241669425C>A" "" "{PMID:Ezgu:23612258}" "" "" "" "Unknown" "" "" "0" "" "" "g.241506125C>A" "" "VUS" "" "0000128186" "1" "50" "1" "241669315" "241669315" "subst" "0" "01713" "FH_000170" "g.241669315C>G" "" "{PMID:Kubinova:22764886}" "" "" "0/200 controls" "Unknown" "" "" "0" "" "" "g.241506015C>G" "" "VUS" "" "0000128187" "1" "50" "1" "241667429" "241667429" "subst" "0" "01713" "FH_000181" "g.241667429C>T" "" "{PMID:Kuwada:24684806}" "" "" "" "Unknown" "" "" "0" "" "" "g.241504129C>T" "" "VUS" "" "0000128188" "1" "50" "1" "241680543" "241680543" "subst" "0" "01713" "FH_000175" "g.241680543C>A" "" "{PMID:Laufer:23935639}" "" "G69V" "" "Unknown" "" "" "0" "" "" "g.241517243C>A" "" "VUS" "" "0000128189" "1" "50" "1" "241667390" "241667390" "subst" "0" "01713" "FH_000179" "g.241667390C>T" "" "{PMID:Reyes:24309325}" "" "" "" "Unknown" "" "" "0" "" "" "g.241504090C>T" "" "VUS" "" "0000128190" "1" "50" "1" "241672058" "241672058" "subst" "0" "01713" "FH_000172" "g.241672058T>C" "" "{PMID:Tolvanen:22473397}" "" "" "0/94 healthy Finnish controlls, LOH" "Unknown" "" "" "0" "" "" "g.241508758T>C" "" "VUS" "" "0000128191" "1" "50" "1" "241661230" "241661232" "dup" "0" "01713" "FH_000103" "g.241661230_241661232dup" "" "{PMID:Tregoning:24182348}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.241497930_241497932dup" "" "VUS" "" "0000128192" "1" "50" "1" "241667440" "241667440" "subst" "0" "01713" "FH_000168" "g.241667440T>G" "" "{PMID:Vaidya:22528940}" "" "" "heterozygous, SNPs3D: -1.91, SNP&GO: 9 (disease), promoter hypermethylation" "Unknown" "" "" "0" "" "" "g.241504140T>G" "" "VUS" "" "0000128193" "1" "50" "1" "241667429" "241667429" "subst" "0" "01713" "FH_000181" "g.241667429C>T" "" "{PMID:Vaidya:22528940}" "" "" "heterozygous, SNPs3D: -1.91 (Overpacking, salt bridge lost) SNP&GO: 8 (disease), promoter hypermethylation" "Unknown" "" "" "0" "" "" "g.241504129C>T" "" "VUS" "" "0000128194" "1" "50" "1" "241667384" "241667384" "subst" "0" "01713" "FH_000178" "g.241667384A>G" "" "{PMID:Vaidya:22528940}" "" "" "heterozygous, SNPs3D: 2.51 SNP&GO: 4 (Neutral)" "Unknown" "" "" "0" "" "" "g.241504084A>G" "" "VUS" "" "0000128195" "1" "50" "1" "241663826" "241663826" "subst" "0" "01713" "FH_000182" "g.241663826C>T" "" "{PMID:Clark:25004247}" "" "" "" "Unknown" "" "" "0" "" "" "g.241500526C>T" "" "VUS" "" "0000128196" "1" "50" "1" "241680592" "241680592" "subst" "0.00000406303" "01713" "FH_000176" "g.241680592C>T" "" "{PMID:Clark:25004247}" "" "" "" "Unknown" "" "" "0" "" "" "g.241517292C>T" "" "VUS" "" "0000128336" "2" "50" "1" "241667413" "241667413" "subst" "0" "01713" "FH_000180" "g.241667413C>T" "" "{PMID:Tregoning:24182348}" "" "" "compound heterozygous" "Unknown" "" "" "0" "" "" "g.241504113C>T" "" "VUS" "" "0000128831" "21" "90" "1" "241669366" "241669366" "subst" "0" "01738" "FH_000167" "g.241669366T>G" "" "" "" "" "variant identified in proband\'s maternal 1st cousin (cutaneous leiomyomas and multiple fibroids)" "Germline" "yes" "" "0" "" "" "g.241506066T>G" "" "pathogenic" "" "0000248344" "0" "30" "1" "241671993" "241671993" "subst" "0.0000853721" "02325" "FH_000215" "g.241671993A>T" "" "" "" "FH(NM_000143.3):c.648T>A (p.D216E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508693A>T" "" "likely benign" "" "0000250252" "0" "30" "1" "241671993" "241671993" "subst" "0.0000853721" "02329" "FH_000215" "g.241671993A>T" "" "" "" "FH(NM_000143.3):c.648T>A (p.D216E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508693A>T" "" "likely benign" "" "0000280787" "0" "30" "1" "241683033" "241683033" "subst" "0.000932482" "02325" "FH_000002" "g.241683033G>A" "" "" "" "FH(NM_000143.3):c.-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241519733G>A" "" "likely benign" "" "0000280788" "0" "30" "1" "241663905" "241663905" "subst" "0" "02325" "FH_000191" "g.241663905G>C" "" "" "" "FH(NM_000143.3):c.1237-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500605G>C" "" "likely benign" "" "0000280789" "0" "90" "1" "241680592" "241680592" "subst" "0" "02325" "FH_000115" "g.241680592C>A" "" "" "" "FH(NM_000143.3):c.157G>T (p.E53*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241517292C>A" "" "pathogenic" "" "0000283199" "0" "30" "1" "241663939" "241663940" "del" "0" "02329" "FH_000188" "g.241663939_241663940del" "" "" "" "FH(NM_000143.3):c.1237-14_1237-13delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500639_241500640del" "" "likely benign" "" "0000283200" "0" "10" "1" "241663825" "241663825" "subst" "0.00737977" "02329" "FH_000129" "g.241663825G>A" "" "" "" "FH(NM_000143.3):c.1302C>T (p.C434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500525G>A" "" "benign" "" "0000283201" "0" "30" "1" "241682875" "241682875" "subst" "0" "02329" "FH_000194" "g.241682875G>T" "" "" "" "FH(NM_000143.3):c.132+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241519575G>T" "" "likely benign" "" "0000283202" "0" "10" "1" "241676972" "241676972" "subst" "0.00671367" "02329" "FH_000016" "g.241676972G>A" "" "" "" "FH(NM_000143.3):c.309C>T (p.A103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513672G>A" "" "benign" "" "0000283203" "0" "30" "1" "241683016" "241683016" "subst" "0.0000778695" "02329" "FH_000195" "g.241683016G>C" "" "" "" "FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241519716G>C" "" "likely benign" "" "0000283204" "0" "10" "1" "241667523" "241667523" "subst" "0.0347332" "02329" "FH_000064" "g.241667523C>T" "" "" "" "FH(NM_000143.3):c.927G>A (p.P309=, p.(Pro309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504223C>T" "" "benign" "" "0000283931" "0" "10" "1" "241667233" "241667233" "subst" "0" "02326" "FH_000121" "g.241667233C>T" "" "" "" "FH(NM_000143.3):c.1108+109G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241503933C>T" "" "benign" "" "0000283932" "0" "10" "1" "241667244" "241667244" "subst" "0" "02326" "FH_000120" "g.241667244G>T" "" "" "" "FH(NM_000143.3):c.1108+98C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241503944G>T" "" "benign" "" "0000283933" "0" "90" "1" "241665769" "241665769" "subst" "0.00000406296" "02326" "FH_000091" "g.241665769C>A" "" "" "" "FH(NM_000143.3):c.1210G>T (p.E404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241502469C>A" "" "pathogenic" "" "0000283935" "0" "30" "1" "241663939" "241663940" "del" "0" "02326" "FH_000188" "g.241663939_241663940del" "" "" "" "FH(NM_000143.3):c.1237-14_1237-13delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500639_241500640del" "" "likely benign" "" "0000283938" "0" "10" "1" "241677035" "241677035" "subst" "0.0341308" "02326" "FH_000160" "g.241677035T>A" "" "" "" "FH(NM_000143.3):c.268-22A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513735T>A" "" "benign" "" "0000283939" "0" "10" "1" "241676758" "241676758" "subst" "0" "02326" "FH_000193" "g.241676758C>T" "" "" "" "FH(NM_000143.3):c.378+145G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513458C>T" "" "benign" "" "0000283940" "0" "10" "1" "241675119" "241675119" "subst" "0" "02326" "FH_000192" "g.241675119G>C" "" "" "" "FH(NM_000143.3):c.555+148C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241511819G>C" "" "benign" "" "0000283941" "0" "10" "1" "241667523" "241667523" "subst" "0.0347332" "02326" "FH_000064" "g.241667523C>T" "" "" "" "FH(NM_000143.3):c.927G>A (p.P309=, p.(Pro309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504223C>T" "" "benign" "" "0000287502" "0" "90" "1" "241665769" "241665769" "subst" "0.00000406296" "01943" "FH_000091" "g.241665769C>A" "" "" "" "FH(NM_000143.3):c.1210G>T (p.E404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241502469C>A" "" "pathogenic" "" "0000287503" "0" "10" "1" "241677035" "241677035" "subst" "0.0341308" "01943" "FH_000160" "g.241677035T>A" "" "" "" "FH(NM_000143.3):c.268-22A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513735T>A" "" "benign" "" "0000287504" "0" "10" "1" "241667523" "241667523" "subst" "0.0347332" "01943" "FH_000064" "g.241667523C>T" "" "" "" "FH(NM_000143.3):c.927G>A (p.P309=, p.(Pro309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504223C>T" "" "benign" "" "0000336829" "0" "90" "1" "241665769" "241665769" "subst" "0.00000406296" "02327" "FH_000091" "g.241665769C>A" "" "" "" "FH(NM_000143.3):c.1210G>T (p.E404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241502469C>A" "" "pathogenic" "" "0000337601" "0" "90" "1" "241661271" "241661271" "subst" "0" "02327" "FH_000196" "g.241661271C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241497971C>A" "" "pathogenic" "" "0000337602" "0" "90" "1" "241663736" "241663736" "subst" "0" "02327" "FH_000197" "g.241663736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500436C>T" "" "pathogenic" "" "0000337603" "0" "90" "1" "241675444" "241675444" "subst" "0" "02327" "FH_000210" "g.241675444C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241512144C>T" "" "pathogenic" "" "0000337604" "0" "90" "1" "241676901" "241676901" "subst" "0" "02327" "FH_000211" "g.241676901A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513601A>G" "" "pathogenic" "" "0000337605" "0" "90" "1" "241677014" "241677014" "subst" "0" "02327" "FH_000214" "g.241677014C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513714C>G" "" "pathogenic" "" "0000337606" "0" "10" "1" "241677035" "241677035" "subst" "0.0341308" "02327" "FH_000160" "g.241677035T>A" "" "" "" "FH(NM_000143.3):c.268-22A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513735T>A" "" "benign" "" "0000337608" "0" "30" "1" "241683033" "241683033" "subst" "0.000932482" "02327" "FH_000002" "g.241683033G>A" "" "" "" "FH(NM_000143.3):c.-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241519733G>A" "" "likely benign" "" "0000339749" "0" "10" "1" "241663825" "241663825" "subst" "0.00737977" "02327" "FH_000129" "g.241663825G>A" "" "" "" "FH(NM_000143.3):c.1302C>T (p.C434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500525G>A" "" "benign" "" "0000339750" "0" "10" "1" "241667523" "241667523" "subst" "0.0347332" "02327" "FH_000064" "g.241667523C>T" "" "" "" "FH(NM_000143.3):c.927G>A (p.P309=, p.(Pro309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504223C>T" "" "benign" "" "0000339751" "0" "30" "1" "241671921" "241671921" "subst" "0.00000406478" "02327" "FH_000208" "g.241671921A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508621A>G" "" "likely benign" "" "0000339753" "0" "10" "1" "241676972" "241676972" "subst" "0.00671367" "02327" "FH_000016" "g.241676972G>A" "" "" "" "FH(NM_000143.3):c.309C>T (p.A103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513672G>A" "" "benign" "" "0000339754" "0" "30" "1" "241682990" "241682990" "subst" "0.000164255" "02327" "FH_000216" "g.241682990C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241519690C>G" "" "likely benign" "" "0000341660" "0" "90" "1" "241676980" "241676980" "subst" "0" "02327" "FH_000014" "g.241676980G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513680G>A" "" "pathogenic" "" "0000342343" "0" "90" "1" "241671944" "241671944" "subst" "0" "02327" "FH_000046" "g.241671944G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508644G>A" "" "pathogenic" "" "0000342345" "0" "90" "1" "241671943" "241671943" "subst" "0.0000203229" "02327" "FH_000048" "g.241671943C>T" "" "" "" "FH(NM_000143.3):c.698G>A (p.R233H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508643C>T" "" "pathogenic" "" "0000342485" "0" "10" "1" "241669405" "241669405" "subst" "0" "02327" "FH_000206" "g.241669405T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241506105T>C" "" "benign" "" "0000342701" "0" "50" "1" "241667401" "241667401" "subst" "0.000032519" "02327" "FH_000202" "g.241667401C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504101C>T" "" "VUS" "" "0000342817" "0" "50" "1" "241683016" "241683016" "subst" "0.0000778695" "02327" "FH_000195" "g.241683016G>C" "" "" "" "FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241519716G>C" "" "VUS" "" "0000342911" "0" "50" "1" "241663797" "241663797" "subst" "0" "02327" "FH_000199" "g.241663797T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500497T>C" "" "VUS" "" "0000343633" "0" "90" "1" "241672078" "241672078" "subst" "0" "02327" "FH_000038" "g.241672078T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508778T>C" "" "pathogenic" "" "0000343973" "0" "90" "1" "241672076" "241672076" "subst" "0" "02327" "FH_000209" "g.241672076C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508776C>T" "" "pathogenic" "" "0000344357" "0" "90" "1" "241667452" "241667452" "subst" "0" "02327" "FH_000118" "g.241667452C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504152C>T" "" "pathogenic" "" "0000344376" "0" "90" "1" "241665849" "241665849" "subst" "0" "02327" "FH_000201" "g.241665849C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241502549C>A" "" "pathogenic" "" "0000344392" "0" "90" "1" "241663826" "241663826" "subst" "0" "02327" "FH_000182" "g.241663826C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241500526C>T" "" "pathogenic" "" "0000345099" "0" "90" "1" "241676903" "241676903" "subst" "0" "02327" "FH_000212" "g.241676903C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513603C>G" "" "pathogenic" "" "0000345474" "0" "90" "1" "241680592" "241680592" "subst" "0" "02327" "FH_000115" "g.241680592C>A" "" "" "" "FH(NM_000143.3):c.157G>T (p.E53*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241517292C>A" "" "pathogenic" "" "0000345939" "0" "90" "1" "241669383" "241669383" "subst" "0" "02327" "FH_000114" "g.241669383C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241506083C>T" "" "pathogenic" "" "0000346053" "0" "90" "1" "241665790" "241665790" "subst" "0.00000406276" "02327" "FH_000090" "g.241665790C>T" "" "" "" "FH(NM_000143.3):c.1189G>A (p.G397R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241502490C>T" "" "pathogenic" "" "0000346343" "0" "50" "1" "241676991" "241676991" "subst" "0" "02327" "FH_000213" "g.241676991C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241513691C>T" "" "VUS" "" "0000346399" "0" "90" "1" "241672054" "241672054" "subst" "0.0000040661" "02327" "FH_000041" "g.241672054T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508754T>C" "" "pathogenic" "" "0000346448" "0" "90" "1" "241667498" "241667498" "subst" "0" "02327" "FH_000067" "g.241667498G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504198G>A" "" "pathogenic" "" "0000347480" "0" "90" "1" "241671952" "241671952" "subst" "0.00000406445" "02327" "FH_000045" "g.241671952T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241508652T>C" "" "pathogenic" "" "0000347514" "0" "90" "1" "241669434" "241669434" "subst" "0" "02327" "FH_000207" "g.241669434G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241506134G>T" "" "pathogenic" "" "0000347583" "0" "90" "1" "241661230" "241661232" "dup" "0" "02327" "FH_000103" "g.241661230_241661232dup" "" "" "" "FH(NM_000143.3):c.1431_1433dupAAA (p.K477dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241497930_241497932dup" "" "pathogenic" "" "0000348368" "0" "30" "1" "241667525" "241667525" "subst" "0.0000162725" "02327" "FH_000203" "g.241667525G>A" "" "" "" "FH(NM_000143.3):c.925C>T (p.P309S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504225G>A" "" "likely benign" "" "0000348721" "0" "90" "1" "241675388" "241675388" "subst" "0" "02327" "FH_000027" "g.241675388G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241512088G>C" "" "pathogenic" "" "0000348946" "0" "90" "1" "241667448" "241667448" "subst" "0" "02327" "FH_000109" "g.241667448A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241504148A>C" "" "pathogenic" "" "0000349405" "0" "70" "1" "241669377" "241669377" "subst" "0" "02327" "FH_000205" "g.241669377G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.241506077G>A" "" "likely pathogenic" "" "0000372268" "0" "70" "1" "241676961" "241676961" "subst" "0" "01741" "FH_000217" "g.241676961T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.241513661T>A" "" "likely pathogenic" "" "0000506620" "0" "50" "1" "241663824" "241663824" "subst" "0.0000853256" "02327" "FH_000218" "g.241663824C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500524C>T" "" "VUS" "" "0000506621" "0" "30" "1" "241663923" "241663940" "dup" "0" "02329" "FH_000219" "g.241663923_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-30_1237-13dupTCTCTCTCTCTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500623_241500640dup" "" "likely benign" "" "0000506622" "0" "30" "1" "241663927" "241663940" "dup" "0" "02329" "FH_000220" "g.241663927_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-13_1237-12insTCTCTCTCTCTCTC (p.(=)), FH(NM_000143.3):c.1237-26_1237-13dupTCTCTCTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500627_241500640dup" "" "likely benign" "" "0000506623" "0" "30" "1" "241663929" "241663940" "dup" "0" "02329" "FH_000221" "g.241663929_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-13_1237-12insTCTCTCTCTCTC (p.(=)), FH(NM_000143.3):c.1237-24_1237-13dupTCTCTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500629_241500640dup" "" "likely benign" "" "0000506624" "0" "30" "1" "241663933" "241663940" "dup" "0" "02329" "FH_000222" "g.241663933_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-20_1237-13dupTCTCTCTC, FH(NM_000143.3):c.1237-22_1237-15dupTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500633_241500640dup" "" "likely benign" "" "0000506625" "0" "10" "1" "241663933" "241663940" "dup" "0" "02326" "FH_000222" "g.241663933_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-20_1237-13dupTCTCTCTC, FH(NM_000143.3):c.1237-22_1237-15dupTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500633_241500640dup" "" "benign" "" "0000506626" "0" "30" "1" "241663935" "241663940" "dup" "0" "02326" "FH_000223" "g.241663935_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-15_1237-14insTCTCTC (p.(=)), FH(NM_000143.3):c.1237-18_1237-13dupTCTCTC, FH(NM_000143.3):c.1237-20_1237-15dupTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500635_241500640dup" "" "likely benign" "" "0000506627" "0" "30" "1" "241663937" "241663940" "del" "0" "02329" "FH_000224" "g.241663937_241663940del" "" "" "" "FH(NM_000143.3):c.1237-16_1237-13delTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500637_241500640del" "" "likely benign" "" "0000506628" "0" "10" "1" "241663937" "241663940" "dup" "0" "02326" "FH_000225" "g.241663937_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-15_1237-14insTCTC (p.(=)), FH(NM_000143.3):c.1237-16_1237-13dupTCTC, FH(NM_000143.3):c.1237-18_1237-15dupTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241500637_241500640dup" "" "benign" "" "0000506629" "0" "70" "1" "241665783" "241665783" "subst" "0" "02327" "FH_000226" "g.241665783C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241502483C>T" "" "likely pathogenic" "" "0000506630" "0" "90" "1" "241665855" "241665855" "subst" "0" "02327" "FH_000227" "g.241665855G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241502555G>A" "" "pathogenic" "" "0000506631" "0" "50" "1" "241667402" "241667402" "subst" "0.0000162595" "02327" "FH_000228" "g.241667402G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241504102G>A" "" "VUS" "" "0000506632" "0" "90" "1" "241667423" "241667423" "subst" "0.00000406405" "02327" "FH_000073" "g.241667423G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241504123G>A" "" "pathogenic" "" "0000506633" "0" "30" "1" "241669391" "241669391" "subst" "0.0000162598" "02327" "FH_000229" "g.241669391G>A" "" "" "" "FH(NM_000143.3):c.816C>T (p.L272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241506091G>A" "" "likely benign" "" "0000506634" "0" "90" "1" "241671932" "241671932" "subst" "0" "02327" "FH_000230" "g.241671932G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241508632G>A" "" "pathogenic" "" "0000506635" "0" "90" "1" "241671943" "241671943" "subst" "0.0000203229" "01943" "FH_000048" "g.241671943C>T" "" "" "" "FH(NM_000143.3):c.698G>A (p.R233H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241508643C>T" "" "pathogenic" "" "0000506636" "0" "30" "1" "241671993" "241671993" "subst" "0.0000853721" "02327" "FH_000215" "g.241671993A>T" "" "" "" "FH(NM_000143.3):c.648T>A (p.D216E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241508693A>T" "" "likely benign" "" "0000506637" "0" "50" "1" "241672058" "241672058" "subst" "0" "02327" "FH_000172" "g.241672058T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241508758T>C" "" "VUS" "" "0000506638" "0" "90" "1" "241675301" "241675301" "subst" "0.0000203196" "02327" "FH_000030" "g.241675301G>C" "" "" "" "FH(NM_000143.3):c.521C>G (p.P174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241512001G>C" "" "pathogenic" "" "0000506639" "0" "30" "1" "241675492" "241675492" "subst" "0.000200863" "02327" "FH_000231" "g.241675492C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241512192C>T" "" "likely benign" "" "0000506640" "0" "50" "1" "241676973" "241676973" "subst" "0" "02325" "FH_000232" "g.241676973G>A" "" "" "" "FH(NM_000143.3):c.308C>T (p.A103V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241513673G>A" "" "VUS" "" "0000506641" "0" "50" "1" "241680489" "241680489" "subst" "0.0000324897" "01943" "FH_000233" "g.241680489C>T" "" "" "" "FH(NM_000143.3):c.260G>A (p.R87H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241517189C>T" "" "VUS" "" "0000506642" "0" "30" "1" "241680532" "241680532" "subst" "0.0000609201" "02327" "FH_000234" "g.241680532C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241517232C>T" "" "likely benign" "" "0000506643" "0" "30" "1" "241682871" "241682871" "subst" "0.000111373" "02329" "FH_000235" "g.241682871G>A" "" "" "" "FH(NM_000143.3):c.132+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241519571G>A" "" "likely benign" "" "0000506644" "0" "10" "1" "241682970" "241682970" "subst" "0.00145423" "01943" "FH_000236" "g.241682970G>A" "" "" "" "FH(NM_000143.3):c.53C>T (p.P18L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241519670G>A" "" "benign" "" "0000506645" "0" "50" "1" "241683016" "241683016" "subst" "0.0000778695" "01804" "FH_000195" "g.241683016G>C" "" "" "" "FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241519716G>C" "" "VUS" "" "0000506646" "0" "50" "1" "241683016" "241683016" "subst" "0.0000778695" "02325" "FH_000195" "g.241683016G>C" "" "" "" "FH(NM_000143.3):c.7C>G (p.(Arg3Gly), p.R3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241519716G>C" "" "VUS" "" "0000595715" "0" "50" "1" "241675301" "241675301" "subst" "0.0000203196" "00727" "FH_000030" "g.241675301G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.241512001G>C" "" "likely pathogenic" "" "0000605581" "0" "70" "1" "241665821" "241665821" "subst" "0" "02327" "FH_000237" "g.241665821T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241502521T>G" "" "likely pathogenic" "" "0000605582" "0" "90" "1" "241667546" "241667546" "subst" "0" "02327" "FH_000057" "g.241667546C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241504246C>T" "" "pathogenic" "" "0000605583" "0" "50" "1" "241680486" "241680486" "subst" "0" "02327" "FH_000238" "g.241680486A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241517186A>T" "" "VUS" "" "0000647644" "1" "90" "1" "241667423" "241667423" "subst" "0.00000406405" "03575" "FH_000073" "g.241667423G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs121913122}" "Germline" "" "rs121913122" "0" "" "" "g.241504123G>A" "" "pathogenic" "" "0000647645" "1" "50" "1" "241669368" "241669368" "subst" "0" "03575" "FH_000239" "g.241669368C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223969}" "Germline" "" "rs863223969" "0" "" "" "g.241506068C>T" "" "VUS" "" "0000647646" "1" "70" "1" "241672084" "241672084" "subst" "0.00000407375" "03575" "FH_000240" "g.241672084C>T" "1/2776 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587782618}" "Germline" "" "rs587782618" "0" "" "" "g.241508784C>T" "" "likely pathogenic" "" "0000647647" "1" "50" "1" "241682891" "241682891" "subst" "0" "03575" "FH_000241" "g.241682891C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs863223982}" "Germline" "" "rs863223982" "0" "" "" "g.241519591C>T" "" "VUS" "" "0000653474" "0" "95" "1" "241661228" "241661230" "dup" "0" "01164" "FH_000103" "g.241661228_241661230dup" "" "" "" "" "ACMG: BS1,BP4,BP6,BP7; possibly reduced penetrance variant (PS3 + PM4), found in HLRCC patients and in controlls); Deschauer et al. 2006. Mol Genet Metab 88: 146; Ezgu et al. 2013. Gene 25: 403; Rustin et al. 1997. Biochim Biophys Acta 1361: 185; Chen et al. 2014. Am J Surg Pathol 38: 627; Martínek et al. 2015. Virchows Arch 467: 185" "Germline" "" "rs367543046" "0" "" "" ".241497930_241497932dup" "" "VUS" "ACMG" "0000653976" "0" "30" "1" "241669391" "241669391" "subst" "0.0000162598" "01943" "FH_000229" "g.241669391G>A" "" "" "" "FH(NM_000143.3):c.816C>T (p.L272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241506091G>A" "" "likely benign" "" "0000653977" "0" "70" "1" "241675301" "241675301" "subst" "0.0000203196" "02325" "FH_000030" "g.241675301G>C" "" "" "" "FH(NM_000143.3):c.521C>G (p.P174R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.241512001G>C" "" "likely pathogenic" "" "0000675776" "0" "30" "1" "241661200" "241661200" "subst" "0.0000122499" "02327" "FH_000242" "g.241661200G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675777" "0" "10" "1" "241663931" "241663940" "dup" "0" "02329" "FH_000243" "g.241663931_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-22_1237-13dupTCTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000675778" "0" "90" "1" "241665790" "241665790" "subst" "0.00000406276" "02325" "FH_000090" "g.241665790C>T" "" "" "" "FH(NM_000143.3):c.1189G>A (p.G397R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000675779" "0" "50" "1" "241675290" "241675290" "subst" "0" "02325" "FH_000244" "g.241675290T>G" "" "" "" "FH(NM_000143.3):c.532A>C (p.N178H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675780" "0" "30" "1" "241675458" "241675458" "subst" "0.000122788" "02327" "FH_000245" "g.241675458T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688109" "0" "50" "1" "241667525" "241667525" "subst" "0.0000162725" "02325" "FH_000203" "g.241667525G>A" "" "" "" "FH(NM_000143.3):c.925C>T (p.P309S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717358" "0" "90" "1" "241661230" "241661232" "dup" "0" "02329" "FH_000103" "g.241661230_241661232dup" "" "" "" "FH(NM_000143.3):c.1431_1433dupAAA (p.K477dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717359" "0" "90" "1" "241665769" "241665769" "subst" "0.00000406296" "02329" "FH_000091" "g.241665769C>A" "" "" "" "FH(NM_000143.3):c.1210G>T (p.E404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000717360" "0" "30" "1" "241676884" "241676884" "subst" "0" "02327" "FH_000246" "g.241676884C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000795865" "0" "90" "1" "241671943" "241671943" "subst" "0.0000203229" "01164" "FH_000048" "g.241671943C>T" "" "" "" "" "ACMG: PS3, PS4, PM1, PP1_MOD, PM2_SUP" "Germline" "" "rs121913123" "" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000795866" "0" "50" "1" "241667456" "241667456" "subst" "0" "01164" "FH_000247" "g.241667456C>G" "" "" "" "" "ACMG: PM1, PM2_SUP, PP3, PP4" "Germline" "" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000799241" "0" "50" "1" "241661166" "241661166" "subst" "0.0000040828" "01943" "FH_000248" "g.241661166C>T" "" "" "" "FH(NM_000143.3):c.1495G>A (p.E499K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799242" "0" "90" "1" "241669302" "241669303" "ins" "0" "02327" "FH_000249" "g.241669302_241669303insACAG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000799244" "0" "50" "1" "241671928" "241671928" "subst" "0" "02327" "FH_000251" "g.241671928T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799245" "0" "70" "1" "241680535" "241680535" "subst" "0" "02327" "FH_000252" "g.241680535T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799246" "0" "50" "1" "241680586" "241680586" "subst" "0" "02327" "FH_000253" "g.241680586C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799247" "0" "30" "1" "241682927" "241682927" "subst" "0" "02327" "FH_000254" "g.241682927G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000825316" "0" "70" "1" "241667394" "241667394" "dup" "0" "01164" "FH_000255" "g.241667394dup" "" "" "" "" "ACMG: PVS1, PM2_SUP, PP4" "Germline" "" "" "0" "" "" "g.241504094dup" "" "pathogenic (dominant)" "ACMG" "0000831664" "0" "70" "1" "241667498" "241667498" "subst" "0" "01164" "FH_000067" "g.241667498G>A" "" "PMID: 16597677, 12772087, 20618355, 16510303, 25985877" "" "" "ACMG: PP1_STR, PS4_MOD, PM5, PM2_SUP, PP3\r\n1) This variant has been found in patients with HLRCC and was absent in controls (PMID: 16597677) \r\n2) The variant was found in a affected family to segregate with the phenotype (PMID: 12772087, 20618355)\r\n3) The variant (p.His318Leu) has been observed in an individual with fumarate hydratase deficiency and an individual with leiomyomatosis (PMID: 16510303, 25985877)." "Germline" "" "" "" "" "" "" "" "pathogenic (!)" "ACMG" "0000831665" "0" "70" "1" "241661267" "241661267" "subst" "0" "01164" "FH_000100" "g.241661267T>C" "" "PMID: 12772087, 31444830, 16597677" "" "" "ACMG: PS4_MOD, PS3_SUP, PM2_SUP, PP3, PP4\r\n1) Variant reported in individuals and families affected with hereditary leiomyomatosis and renal cell cancer (PMID: 12772087, 31444830). \r\n2) Decreased fumarate hydratase enzyme activity when compared with control cells (PMID: 16597677)." "Germline" "" "" "" "" "" "" "" "likely pathogenic (!)" "ACMG" "0000848667" "0" "10" "1" "241663939" "241663940" "dup" "0" "02326" "FH_000256" "g.241663939_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-14_1237-13dup (p.(=)), FH(NM_000143.3):c.1237-14_1237-13dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848668" "0" "30" "1" "241669538" "241669538" "subst" "0" "02369" "FH_000258" "g.241669538T>G" "" "" "" "FH(NM_000143.3):c.739-70A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857390" "0" "30" "1" "241663927" "241663940" "dup" "0" "01804" "FH_000220" "g.241663927_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-13_1237-12insTCTCTCTCTCTCTC (p.(=)), FH(NM_000143.3):c.1237-26_1237-13dupTCTCTCTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857391" "0" "30" "1" "241663929" "241663940" "dup" "0" "01804" "FH_000221" "g.241663929_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-13_1237-12insTCTCTCTCTCTC (p.(=)), FH(NM_000143.3):c.1237-24_1237-13dupTCTCTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857392" "0" "10" "1" "241663935" "241663940" "dup" "0" "01804" "FH_000223" "g.241663935_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-15_1237-14insTCTCTC (p.(=)), FH(NM_000143.3):c.1237-18_1237-13dupTCTCTC, FH(NM_000143.3):c.1237-20_1237-15dupTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857393" "0" "10" "1" "241663937" "241663940" "dup" "0" "01804" "FH_000225" "g.241663937_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-15_1237-14insTCTC (p.(=)), FH(NM_000143.3):c.1237-16_1237-13dupTCTC, FH(NM_000143.3):c.1237-18_1237-15dupTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857394" "0" "10" "1" "241663939" "241663940" "dup" "0" "01804" "FH_000256" "g.241663939_241663940dup" "" "" "" "FH(NM_000143.3):c.1237-14_1237-13dup (p.(=)), FH(NM_000143.3):c.1237-14_1237-13dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857395" "0" "50" "1" "241665861" "241665861" "subst" "0" "02327" "FH_000257" "g.241665861T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857396" "0" "10" "1" "241667523" "241667523" "subst" "0.0347332" "01804" "FH_000064" "g.241667523C>T" "" "" "" "FH(NM_000143.3):c.927G>A (p.P309=, p.(Pro309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857397" "0" "50" "1" "241671964" "241671964" "subst" "0.00000406481" "02327" "FH_000259" "g.241671964G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857398" "0" "90" "1" "241672007" "241672007" "subst" "0" "02327" "FH_000260" "g.241672007G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000857399" "0" "70" "1" "241676979" "241676979" "subst" "0" "02327" "FH_000015" "g.241676979C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FH ## Count = 422 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/Consequence/Predicted}}" "0000063014" "00007945" "10" "268" "-22" "268" "-22" "c.268-22A>T" "r.(=)" "p.(=)" "" "" "" "0000063015" "00007945" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "" "" "0000063016" "00007945" "10" "927" "0" "927" "0" "c.927G>A" "r.(=)" "p.(=)" "" "" "" "0000063017" "00007945" "90" "1022" "0" "1022" "0" "c.1022A>G" "r.(?)" "p.(Asp341Gly)" "" "" "" "0000063018" "00007945" "90" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Gln47*)" "" "" "" "0000063019" "00007945" "90" "1294" "0" "1336" "0" "c.1294_1336dup" "r.(?)" "p.(Asn446Argfs*20)" "" "" "" "0000063020" "00007945" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asn188Ser)" "" "" "" "0000063021" "00007945" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Pro)" "" "" "" "0000116108" "00007945" "51" "-11" "0" "-11" "0" "c.-11C>T" "r.(=)" "p.(=)" "1" "0" "" "0000116109" "00007945" "79" "-63" "0" "1804" "0" "c.(?_-63)_(*271_?)del" "r.?" "p.?" "1_10" "0" "" "0000116110" "00007945" "79" "-63" "0" "1804" "0" "c.(?_-63)_(*271_?)del" "r.?" "p.?" "1_10" "0.01" "" "0000116111" "00007945" "79" "-63" "0" "1804" "0" "c.(?_-63)_(*271_?)del" "r.?" "p.?" "1_10" "0" "" "0000116112" "00007945" "79" "-63" "0" "1804" "0" "c.(?_-63)_(*271_?)del" "r.?" "p.?" "1_10" "0" "" "0000116113" "00007945" "79" "-63" "0" "1804" "0" "c.(?_-63)_(*271_?)del" "r.?" "p.?" "1_10" "0" "" "0000116114" "00007945" "55" "-63" "0" "1804" "0" "c.(?_-63)_(*271_?)del" "r.?" "p.?" "1_10" "0.01" "" "0000116115" "00007945" "77" "-63" "0" "133" "0" "c.(?_-63)_(132+1_133-1)del" "r.spl?" "p.?" "1" "" "" "0000116116" "00007945" "77" "-63" "0" "133" "0" "c.(?_-63)_(132+1_133-1)del" "r.spl?" "p.?" "1" "" "" "0000116117" "00007945" "53" "105" "0" "105" "0" "c.105G>A" "r.(=)" "p.(=)" "1" "" "" "0000116118" "00007945" "13" "132" "71" "132" "71" "c.132+71C>A" "r.(=)" "p.(=)" "1i" "" "" "0000116119" "00007945" "13" "132" "71" "132" "71" "c.132+71C>A" "r.(=)" "p.(=)" "1i" "" "" "0000116120" "00007945" "55" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "" "" "0000116121" "00007945" "79" "139" "0" "139" "0" "c.139C>A" "r.(?)" "p.(Gln47Lys)" "2" "" "" "0000116122" "00007945" "79" "139" "0" "139" "0" "c.139C>A" "r.(?)" "p.(Gln47Lys)" "2" "" "" "0000116123" "00007945" "57" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51Gln)" "2" "" "" "0000116124" "00007945" "79" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53*)" "2" "" "" "0000116125" "00007945" "79" "178" "0" "178" "0" "c.178del" "r.(?)" "p.(Leu60*)" "2" "" "" "0000116126" "00007945" "79" "195" "0" "268" "0" "c.195_268del" "r.(?)" "p.(Lys66Profs*4)" "2_3" "" "" "0000116127" "00007945" "99" "221" "0" "221" "0" "c.221del" "r.(?)" "p.(Arg74Asnfs*4)" "2" "" "" "0000116128" "00007945" "79" "233" "0" "233" "0" "c.233del" "r.(?)" "p.(Asn78Thrfs*7)" "2" "0.01" "" "0000116129" "00007945" "79" "239" "0" "239" "0" "c.239dup" "r.(?)" "p.(Ile81Aspfs*14)" "2" "" "" "0000116130" "00007945" "99" "256" "0" "257" "0" "c.256_257del" "r.(?)" "p.(Glu86Thrfs*8)" "2" "" "" "0000116131" "00007945" "59" "267" "1" "267" "1" "c.267+1G>C" "r.spl?" "p.(=)" "2i" "" "" "0000116132" "00007945" "99" "267" "1" "267" "10" "c.267+1_267+10del" "r.spl?" "p.(=)" "2i" "" "" "0000116133" "00007945" "11" "267" "223" "267" "223" "c.267+223A>T" "r.(=)" "p.(=)" "2i" "" "" "0000116134" "00007945" "59" "268" "-2" "268" "-2" "c.268-2A>G" "r.spl?" "p.(=)" "2i" "" "" "0000116135" "00007945" "53" "268" "-87" "268" "-87" "c.268-87A>C" "r.(=)" "p.(=)" "2i" "" "" "0000116136" "00007945" "99" "276" "0" "276" "0" "c.276del" "r.(?)" "p.(Ile93Leufs*7)" "3" "" "" "0000116137" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116138" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116139" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116140" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116141" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116142" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116143" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116144" "00007945" "79" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116145" "00007945" "99" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "3" "" "" "0000116146" "00007945" "57" "302" "0" "302" "0" "c.302G>C" "r.(?)" "p.(Arg101Pro)" "3" "" "" "0000116147" "00007945" "55" "309" "0" "309" "0" "c.309C>T" "r.(=)" "p.(=)" "3" "" "" "0000116148" "00007945" "13" "309" "0" "309" "0" "c.309C>T" "r.(=)" "p.(=)" "3" "" "" "0000116149" "00007945" "13" "309" "0" "309" "0" "c.309C>T" "r.(=)" "p.(=)" "3" "" "" "0000116150" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116151" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116152" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116153" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116154" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116155" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116156" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116157" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116158" "00007945" "57" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(Asn107Thr)" "3" "" "" "0000116159" "00007945" "99" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "3" "" "" "0000116160" "00007945" "99" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "3" "" "" "0000116161" "00007945" "99" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "3" "" "" "0000116162" "00007945" "99" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "3" "0.42" "" "0000116163" "00007945" "99" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "3" "0" "" "0000116164" "00007945" "99" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "3" "0" "" "0000116165" "00007945" "99" "349" "0" "349" "0" "c.349G>C" "r.(?)" "p.(Ala117Pro)" "3" "0" "" "0000116166" "00007945" "99" "376" "0" "378" "1" "c.376_378+1delinsA" "r.spl?" "p.?" "3" "1" "" "0000116167" "00007945" "99" "376" "0" "378" "1" "c.376_378+1delinsA" "r.spl?" "p.?" "3" "" "" "0000116168" "00007945" "77" "378" "1" "378" "1" "c.378+1del" "r.spl?" "p.(=)" "3i" "" "" "0000116169" "00007945" "51" "379" "-22" "379" "-22" "c.379-22A>T" "r.(=)" "p.(=)" "3i" "" "" "0000116170" "00007945" "97" "379" "-2" "379" "-2" "c.379-2A>G" "r.spl?" "p.(=)" "3i" "" "" "0000116171" "00007945" "97" "379" "-2" "379" "-2" "c.379-2A>G" "r.spl?" "p.(=)" "3i" "" "" "0000116172" "00007945" "97" "379" "-2" "379" "-2" "c.379-2A>G" "r.spl?" "p.(=)" "3i" "" "" "0000116173" "00007945" "57" "395" "0" "395" "0" "c.395T>C" "r.(?)" "p.(Leu132Ser)" "4" "" "" "0000116174" "00007945" "57" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(His135Arg)" "4" "" "" "0000116175" "00007945" "59" "418" "0" "418" "0" "c.418del" "r.(?)" "p.(Val140Tyrfs*12)" "4" "" "" "0000116176" "00007945" "57" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Gln142Lys)" "4" "" "" "0000116177" "00007945" "99" "427" "0" "427" "0" "c.427del" "r.(?)" "p.(Thr143Leufs*9)" "4" "" "" "0000116178" "00007945" "79" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Ser145*)" "4" "" "" "0000116179" "00007945" "99" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Gln148*)" "4" "" "" "0000116180" "00007945" "57" "473" "0" "473" "0" "c.473G>T" "r.(?)" "p.(Ser158Ile)" "4" "" "" "0000116181" "00007945" "57" "478" "0" "478" "0" "c.478A>G" "r.(?)" "p.(Arg160Gly)" "4" "" "" "0000116182" "00007945" "95" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Ser171Asn)" "4" "" "" "0000116183" "00007945" "95" "512" "0" "512" "0" "c.512G>A" "r.(?)" "p.(Ser171Asn)" "4" "" "" "0000116184" "00007945" "55" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Pro174Arg)" "4" "0.15" "" "0000116185" "00007945" "55" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Pro174Arg)" "4" "" "" "0000116186" "00007945" "55" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Pro174Arg)" "4" "" "" "0000116187" "00007945" "55" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Pro174Arg)" "4" "" "" "0000116188" "00007945" "57" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(His180Arg)" "4" "" "" "0000116189" "00007945" "57" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(His180Arg)" "4" "" "" "0000116190" "00007945" "97" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(His180Arg)" "4" "" "" "0000116191" "00007945" "59" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "4" "" "" "0000116192" "00007945" "97" "554" "0" "554" "0" "c.554A>G" "r.(?)" "p.(Gln185Arg)" "4" "0.14" "" "0000116193" "00007945" "77" "555" "1" "555" "1" "c.555+1G>A" "r.spl?" "p.(=)" "4i" "" "" "0000116194" "00007945" "97" "555" "1" "555" "1" "c.555+1G>A" "r.spl?" "p.(=)" "4i" "0.15" "" "0000116195" "00007945" "51" "555" "32" "555" "32" "c.555+32A>G" "r.(=)" "p.(=)" "4i" "" "" "0000116196" "00007945" "57" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Leu)" "5" "0.8" "" "0000116197" "00007945" "57" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asn188Ser)" "5" "" "" "0000116198" "00007945" "57" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Pro192Leu)" "5" "" "" "0000116199" "00007945" "55" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Met195Thr)" "5" "" "" "0000116200" "00007945" "55" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(His196Arg)" "5" "" "" "0000116201" "00007945" "55" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(His196Arg)" "5" "" "" "0000116202" "00007945" "55" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(His196Arg)" "5" "" "" "0000116203" "00007945" "95" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Leu211Pro)" "5" "" "" "0000116204" "00007945" "95" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Leu218Pro)" "5" "" "" "0000116205" "00007945" "59" "671" "0" "672" "0" "c.671_672del" "r.(?)" "p.(Glu224Valfs*25)" "5" "" "" "0000116206" "00007945" "59" "671" "0" "672" "0" "c.671_672del" "r.(?)" "p.(Glu224Valfs*25)" "5" "" "" "0000116207" "00007945" "59" "671" "0" "672" "0" "c.671_672del" "r.(?)" "p.(Glu224Valfs*25)" "5" "" "" "0000116208" "00007945" "55" "686" "0" "688" "0" "c.686_688del" "r.(?)" "p.(Ile229del)" "5" "0" "" "0000116209" "00007945" "95" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Ile229Thr)" "5" "" "" "0000116210" "00007945" "55" "686" "0" "686" "0" "c.686T>C" "r.(?)" "p.(Ile229Thr)" "5" "" "" "0000116211" "00007945" "55" "689" "0" "691" "0" "c.689_691del" "r.(?)" "p.(Lys230del)" "5" "" "" "0000116212" "00007945" "97" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "5" "" "" "0000116213" "00007945" "57" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "5" "" "" "0000116214" "00007945" "57" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "5" "" "" "0000116215" "00007945" "57" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "5" "" "" "0000116216" "00007945" "57" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "5" "" "" "0000116217" "00007945" "57" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "5" "" "" "0000116218" "00007945" "57" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "5" "0" "" "0000116219" "00007945" "79" "695" "0" "695" "0" "c.695del" "r.(?)" "p.(Gly232Aspfs*24)" "5" "0.03" "" "0000116220" "00007945" "59" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "0" "" "0000116221" "00007945" "59" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "0" "" "0000116222" "00007945" "59" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "0" "" "0000116223" "00007945" "79" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "" "" "0000116224" "00007945" "99" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "" "" "0000116225" "00007945" "99" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "" "" "0000116226" "00007945" "99" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "0" "" "0000116227" "00007945" "99" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "5" "" "" "0000116228" "00007945" "97" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "5" "" "" "0000116229" "00007945" "57" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "5" "0.06" "" "0000116230" "00007945" "57" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "5" "0.25" "" "0000116231" "00007945" "57" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "5" "" "" "0000116232" "00007945" "57" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "5" "" "" "0000116233" "00007945" "55" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "5" "" "" "0000116234" "00007945" "57" "698" "0" "698" "0" "c.698G>T" "r.(?)" "p.(Arg233Leu)" "5" "0" "" "0000116235" "00007945" "57" "698" "0" "698" "0" "c.698G>T" "r.(?)" "p.(Arg233Leu)" "5" "0" "" "0000116236" "00007945" "95" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(His235Arg)" "5" "" "" "0000116237" "00007945" "57" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" "5" "" "" "0000116238" "00007945" "97" "738" "3" "738" "3" "c.738+3A>G" "r.spl?" "p.(=)" "5i" "" "" "0000116239" "00007945" "51" "739" "-15" "739" "-15" "c.739-15T>G" "r.(=)" "p.(=)" "5i" "0" "" "0000116240" "00007945" "95" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Gln254Arg)" "6" "0" "" "0000116241" "00007945" "95" "795" "0" "795" "0" "c.795del" "r.(?)" "p.(Met266Cysfs*18)" "6" "" "" "0000116242" "00007945" "55" "820" "0" "820" "0" "c.820G>A" "r.(?)" "p.(Ala274Thr)" "6" "" "" "0000116243" "00007945" "55" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Ala274Val)" "6" "" "" "0000116244" "00007945" "77" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Glu)" "6" "" "" "0000116245" "00007945" "97" "845" "0" "845" "0" "c.845G>T" "r.(?)" "p.(Gly282Val)" "6" "" "" "0000116246" "00007945" "57" "845" "0" "845" "0" "c.845G>T" "r.(?)" "p.(Gly282Val)" "6" "" "" "0000116247" "00007945" "57" "845" "0" "845" "0" "c.845G>T" "r.(?)" "p.(Gly282Val)" "6" "" "" "0000116248" "00007945" "59" "848" "0" "848" "0" "c.848T>G" "r.(?)" "p.(Leu283*)" "6" "" "" "0000116249" "00007945" "13" "904" "47" "904" "47" "c.904+47G>A" "r.(=)" "p.(=)" "6i" "" "" "0000116250" "00007945" "13" "904" "54" "904" "54" "c.904+54G>A" "r.(=)" "p.(=)" "6i" "" "" "0000116251" "00007945" "13" "904" "54" "904" "54" "c.904+54G>A" "r.(=)" "p.(=)" "6i" "" "" "0000116252" "00007945" "51" "905" "-214" "905" "-214" "c.905-214T>A" "r.(=)" "p.(=)" "6i" "" "" "0000116253" "00007945" "59" "905" "-442" "1108" "279" "c.905-442_1108+279dup" "r.?" "p.?" "6i_7i" "" "" "0000116254" "00007945" "53" "905" "-39" "905" "-39" "c.905-39A>G" "r.(=)" "p.(=)" "6i" "" "" "0000116255" "00007945" "13" "905" "-21" "905" "-21" "c.905-21G>A" "r.(=)" "p.(=)" "6i" "" "" "0000116256" "00007945" "55" "905" "-1" "905" "-1" "c.905-1G>A" "r.spl?" "p.(=)" "6i" "" "" "0000116257" "00007945" "55" "905" "-1" "905" "-1" "c.905-1G>A" "r.spl?" "p.(=)" "6i" "0.01" "" "0000116258" "00007945" "55" "905" "-1" "905" "-1" "c.905-1G>A" "r.spl?" "p.(=)" "6i" "0" "" "0000116259" "00007945" "55" "905" "-1" "905" "-1" "c.905-1G>A" "r.spl?" "p.(=)" "6i" "" "" "0000116260" "00007945" "75" "908" "0" "908" "0" "c.908T>C" "r.(?)" "p.(Leu303Ser)" "7" "" "" "0000116261" "00007945" "59" "909" "0" "910" "0" "c.909_910del" "r.(?)" "p.(Leu303Phefs*8)" "7" "0" "" "0000116262" "00007945" "59" "912" "0" "918" "0" "c.912_918del" "r.(?)" "p.(Phe305Leufs*22)" "7" "0" "" "0000116263" "00007945" "57" "922" "0" "922" "0" "c.922G>A" "r.(?)" "p.(Ala308Thr)" "7" "" "" "0000116264" "00007945" "51" "927" "0" "927" "0" "c.927G>A" "r.(=)" "p.(=)" "7" "" "" "0000116265" "00007945" "57" "928" "0" "928" "0" "c.928A>T" "r.(?)" "p.(Asn310Tyr)" "7" "" "" "0000116266" "00007945" "95" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Phe312Ser)" "7" "" "" "0000116267" "00007945" "57" "935" "0" "935" "0" "c.935T>G" "r.(?)" "p.(Phe312Cys)" "7" "" "" "0000116268" "00007945" "97" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Glu313*)" "7" "0" "" "0000116269" "00007945" "97" "937" "0" "937" "0" "c.937G>T" "r.(?)" "p.(Glu313*)" "7" "0" "" "0000116270" "00007945" "97" "939" "0" "939" "0" "c.939del" "r.(?)" "p.(Ala314Leufs*15)" "7" "0" "" "0000116271" "00007945" "95" "944" "0" "944" "0" "c.944T>C" "r.(?)" "p.(Leu315Pro)" "7" "0" "" "0000116272" "00007945" "95" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Ala317Val)" "7" "0" "" "0000116273" "00007945" "57" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(His318Tyr)" "7" "" "" "0000116274" "00007945" "77" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(His318Tyr)" "7" "" "" "0000116275" "00007945" "77" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(His318Tyr)" "7" "0" "" "0000116276" "00007945" "97" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(His318Tyr)" "7" "" "" "0000116277" "00007945" "55" "953" "0" "953" "0" "c.953A>T" "r.(?)" "p.(His318Leu)" "7" "" "" "0000116278" "00007945" "57" "965" "0" "965" "0" "c.965T>A" "r.(?)" "p.(Val322Asp)" "7" "" "" "0000116279" "00007945" "57" "988" "0" "988" "0" "c.988A>C" "r.(?)" "p.(Thr330Pro)" "7" "" "" "0000116280" "00007945" "59" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "7" "" "" "0000116281" "00007945" "99" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "7" "" "" "0000116282" "00007945" "77" "1002" "0" "1002" "0" "c.1002T>G" "r.(?)" "p.(Ser334Arg)" "7" "0" "" "0000116283" "00007945" "57" "1004" "0" "1004" "0" "c.1004T>C" "r.(?)" "p.(Leu335Pro)" "7" "0" "" "0000116284" "00007945" "57" "1020" "0" "1020" "0" "c.1020T>A" "r.(?)" "p.(Asn340Lys)" "7" "0" "" "0000116285" "00007945" "57" "1020" "0" "1020" "0" "c.1020T>A" "r.(?)" "p.(Asn340Lys)" "7" "0" "" "0000116286" "00007945" "55" "1021" "0" "1021" "0" "c.1021G>T" "r.(?)" "p.(Asp341Tyr)" "7" "0" "" "0000116287" "00007945" "59" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343*)" "7" "" "" "0000116288" "00007945" "59" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343*)" "7" "0.01" "" "0000116289" "00007945" "59" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343*)" "7" "0" "" "0000116290" "00007945" "99" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343*)" "7" "" "" "0000116291" "00007945" "97" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Glu355Lys)" "7" "" "" "0000116292" "00007945" "57" "1083" "0" "1083" "0" "c.1083T>A" "r.(?)" "p.(Asn361Lys)" "7" "0.1" "" "0000116293" "00007945" "57" "1083" "0" "1083" "0" "c.1083T>A" "r.(?)" "p.(Asn361Lys)" "7" "" "" "0000116294" "00007945" "59" "1083" "0" "1086" "0" "c.1083_1086del" "r.(?)" "p.(Glu362Glnfs*10)" "7" "" "" "0000116295" "00007945" "55" "1084" "0" "1084" "0" "c.1084G>C" "r.(?)" "p.(Glu362Gln)" "7" "" "" "0000116296" "00007945" "57" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Ser365Gly)" "7" "" "" "0000116297" "00007945" "57" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Ser365Gly)" "7" "0.1" "" "0000116298" "00007945" "57" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Ser366Asn)" "7" "" "" "0000116299" "00007945" "57" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Ser366Asn)" "7" "0" "" "0000116300" "00007945" "77" "1103" "0" "1103" "0" "c.1103T>C" "r.(?)" "p.(Met368Thr)" "7" "0" "" "0000116301" "00007945" "57" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Pro369Ser)" "7" "" "" "0000116302" "00007945" "13" "1108" "98" "1108" "98" "c.1108+98C>A" "r.(=)" "p.(=)" "7i" "" "" "0000116303" "00007945" "13" "1108" "98" "1108" "98" "c.1108+98C>A" "r.(=)" "p.(=)" "7i" "" "" "0000116304" "00007945" "13" "1108" "109" "1108" "109" "c.1108+109G>A" "r.(=)" "p.(=)" "7i" "" "" "0000116305" "00007945" "13" "1108" "109" "1108" "109" "c.1108+109G>A" "r.(=)" "p.(=)" "7i" "0.1" "" "0000116306" "00007945" "93" "1123" "0" "1123" "0" "c.1123del" "r.(?)" "p.(Thr375Leufs*6)" "8" "" "" "0000116307" "00007945" "95" "1117" "0" "1117" "0" "c.1117A>G" "r.(?)" "p.(Asn373Asp)" "8" "" "" "0000116308" "00007945" "59" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Asn373Ser)" "8" "0" "" "0000116309" "00007945" "93" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Asn373Ser)" "8" "0" "" "0000116310" "00007945" "55" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Pro374Ser)" "8" "0" "" "0000116311" "00007945" "57" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Gln376Pro)" "8" "" "" "0000116312" "00007945" "57" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Gln376Pro)" "8" "" "" "0000116313" "00007945" "55" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Gln376Pro)" "8" "0.03" "" "0000116314" "00007945" "59" "1133" "0" "1134" "0" "c.1133_1134dup" "r.(?)" "p.(Ala379Lysfs*3)" "8" "" "" "0000116315" "00007945" "77" "1144" "0" "1144" "0" "c.1144A>G" "r.(?)" "p.(Met382Val)" "8" "" "" "0000116316" "00007945" "55" "1154" "0" "1154" "0" "c.1154C>A" "r.(?)" "p.(Ala385Asp)" "8" "0" "" "0000116317" "00007945" "99" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "8" "0" "" "0000116318" "00007945" "99" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Gln386Arg)" "8" "0" "" "0000116319" "00007945" "55" "1158" "0" "1160" "0" "c.1158_1160del" "r.(?)" "p.(Gln386_Val387delinsHis)" "8" "0" "" "0000116320" "00007945" "55" "1176" "0" "1181" "0" "c.1176_1181del" "r.(?)" "p.(Ala393_Val394del)" "8" "" "" "0000116321" "00007945" "55" "1180" "0" "1180" "0" "c.1180G>C" "r.(?)" "p.(Val394Leu)" "8" "" "" "0000116322" "00007945" "99" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "8" "" "" "0000116323" "00007945" "79" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "8" "" "" "0000116324" "00007945" "99" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "8" "" "" "0000116325" "00007945" "99" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "8" "" "" "0000116326" "00007945" "99" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "8" "" "" "0000116327" "00007945" "55" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "8" "" "" "0000116328" "00007945" "57" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(His402Tyr)" "8" "" "" "0000116329" "00007945" "59" "1210" "0" "1210" "0" "c.1210G>T" "r.(?)" "p.(Glu404*)" "8" "" "" "0000116330" "00007945" "99" "1234" "0" "1234" "0" "c.1234del" "r.(?)" "p.(Met412*)" "8" "" "" "0000116331" "00007945" "95" "1237" "-2" "1237" "-2" "c.1237-2A>G" "r.spl?" "p.(=)" "8i" "" "" "0000116332" "00007945" "59" "1237" "0" "1237" "0" "c.1237del" "r.(?)" "p.(Ile413Leufs*36)" "9" "" "" "0000116333" "00007945" "55" "1250" "0" "1252" "0" "c.1250_1252del" "r.(?)" "p.(Leu417_His418delinsTyr)" "9" "" "" "0000116334" "00007945" "57" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Ser419Pro)" "9" "" "" "0000116335" "00007945" "51" "1267" "0" "1267" "0" "c.1267C>T" "r.(=)" "p.(=)" "9" "" "" "0000116336" "00007945" "57" "1274" "0" "1274" "0" "c.1274A>T" "r.(?)" "p.(Asp425Val)" "9" "0.02" "" "0000116337" "00007945" "57" "1274" "0" "1274" "0" "c.1274A>T" "r.(?)" "p.(Asp425Val)" "9" "" "" "0000116338" "00007945" "59" "1291" "0" "1291" "0" "c.1291del" "r.(?)" "p.(Thr431Glnfs*18)" "9" "0" "" "0000116339" "00007945" "59" "1293" "0" "1293" "0" "c.1293del" "r.(?)" "p.(Glu432Lysfs*17)" "9" "1" "" "0000116340" "00007945" "13" "1302" "0" "1302" "0" "c.1302C>T" "r.(=)" "p.(=)" "9" "" "" "0000116341" "00007945" "13" "1302" "0" "1302" "0" "c.1302C>T" "r.(=)" "p.(=)" "9" "" "" "0000116342" "00007945" "55" "1316" "0" "1316" "0" "c.1316A>C" "r.(?)" "p.(Gln439Pro)" "9" "" "" "0000116343" "00007945" "55" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Met449Ilefs*5)" "9" "" "" "0000116344" "00007945" "55" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Met449Ilefs*5)" "9" "" "" "0000116345" "00007945" "55" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Met449Ilefs*5)" "9" "" "" "0000116346" "00007945" "55" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Met449Ilefs*5)" "9" "" "" "0000116347" "00007945" "55" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Met449Ilefs*5)" "9" "" "" "0000116348" "00007945" "55" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Met449Ilefs*5)" "9" "" "" "0000116349" "00007945" "55" "1347" "0" "1347" "0" "c.1347del" "r.(?)" "p.(Met449Ilefs*5)" "9" "" "" "0000116350" "00007945" "95" "1358" "0" "1358" "0" "c.1358T>C" "r.(?)" "p.(Leu453Pro)" "9" "" "" "0000116351" "00007945" "95" "1358" "0" "1358" "0" "c.1358T>C" "r.(?)" "p.(Leu453Pro)" "9" "" "" "0000116352" "00007945" "55" "1362" "0" "1362" "0" "c.1362G>A" "r.(?)" "p.(Met454Ile)" "9" "" "" "0000116353" "00007945" "59" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "10" "0" "" "0000116354" "00007945" "59" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "10" "0" "" "0000116355" "00007945" "99" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "10" "0" "" "0000116356" "00007945" "55" "1400" "0" "1400" "0" "c.1400A>G" "r.(?)" "p.(Lys467Arg)" "10" "0" "" "0000116357" "00007945" "55" "1430" "0" "1437" "0" "c.1430_1437dup" "r.(?)" "p.(Ser480Lysfs*6)" "10" "0" "" "0000116358" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "0" "" "0000116359" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "" "" "0000116360" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "0" "" "0000116361" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "" "" "0000116362" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "" "" "0000116363" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "" "" "0000116364" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "0" "" "0000116365" "00007945" "55" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "" "" "0000116366" "00007945" "95" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "0" "" "0000116367" "00007945" "55" "1469" "0" "1469" "0" "c.1469del" "r.(?)" "p.(Gly490Alafs*12)" "10" "" "" "0000116368" "00007945" "59" "1499" "0" "1499" "0" "c.1499G>A" "r.(?)" "p.(Trp500*)" "10" "0" "" "0000116369" "00007945" "99" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Trp500*)" "10" "0" "" "0000116370" "00007945" "95" "1520" "0" "1520" "0" "c.1520T>C" "r.(?)" "p.(Leu507Pro)" "10" "" "" "0000116371" "00007945" "55" "-11" "0" "-11" "0" "c.-11C>T" "r.(=)" "p.(=)" "1" "0.01" "" "0000128181" "00007945" "50" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Thr381Ile)" "8" "" "" "0000128182" "00007945" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Ala194Thr)" "5" "" "" "0000128183" "00007945" "50" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Asn329Ser)" "7" "" "" "0000128184" "00007945" "50" "419" "0" "419" "0" "c.419T>G" "r.(?)" "p.(Val140Gly)" "4" "" "" "0000128185" "00007945" "50" "782" "0" "782" "0" "c.782G>T" "r.(?)" "p.(Arg261Ile)" "6" "" "" "0000128186" "00007945" "50" "892" "0" "892" "0" "c.892G>C" "r.(?)" "p.(Ala298Pro)" "6" "" "" "0000128187" "00007945" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Asp341Asn)" "7" "" "" "0000128188" "00007945" "50" "206" "0" "206" "0" "c.206G>T" "r.(?)" "p.(Gly69Val)" "2" "" "" "0000128189" "00007945" "50" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Gly354Arg)" "7" "" "" "0000128190" "00007945" "50" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Met195Val)" "5" "" "" "0000128191" "00007945" "50" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "10" "" "" "0000128192" "00007945" "50" "1010" "0" "1010" "0" "c.1010A>C" "r.(?)" "p.(Lys337Thr)" "7" "" "" "0000128193" "00007945" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Asp341Asn)" "7" "" "" "0000128194" "00007945" "50" "1066" "0" "1066" "0" "c.1066T>C" "r.(=)" "p.(=)" "7" "" "" "0000128195" "00007945" "50" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Cys434Tyr)" "9" "damaging" "" "0000128196" "00007945" "50" "157" "0" "157" "0" "c.157G>A" "r.(?)" "p.(Glu53Lys)" "2" "damaging" "" "0000128336" "00007945" "50" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Gly346Asp)" "7" "" "" "0000128831" "00007945" "90" "841" "0" "841" "0" "c.841A>C" "r.(?)" "p.(Thr281Pro)" "6" "" "" "0000248344" "00007945" "30" "648" "0" "648" "0" "c.648T>A" "r.(?)" "p.(Asp216Glu)" "" "" "" "0000250252" "00007945" "30" "648" "0" "648" "0" "c.648T>A" "r.(?)" "p.(Asp216Glu)" "" "" "" "0000280787" "00007945" "30" "-11" "0" "-11" "0" "c.-11C>T" "r.(?)" "p.(=)" "" "" "" "0000280788" "00007945" "30" "1237" "-15" "1237" "-15" "c.1237-15C>G" "r.(=)" "p.(=)" "" "" "" "0000280789" "00007945" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53Ter)" "" "" "" "0000283199" "00007945" "30" "1237" "-14" "1237" "-13" "c.1237-14_1237-13del" "r.(=)" "p.(=)" "" "" "" "0000283200" "00007945" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Cys434=)" "" "" "" "0000283201" "00007945" "30" "132" "16" "132" "16" "c.132+16C>A" "r.(=)" "p.(=)" "" "" "" "0000283202" "00007945" "10" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Ala103=)" "" "" "" "0000283203" "00007945" "30" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Arg3Gly)" "" "" "" "0000283204" "00007945" "10" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Pro309=)" "" "" "" "0000283931" "00007945" "10" "1108" "109" "1108" "109" "c.1108+109G>A" "r.(=)" "p.(=)" "" "" "" "0000283932" "00007945" "10" "1108" "98" "1108" "98" "c.1108+98C>A" "r.(=)" "p.(=)" "" "" "" "0000283933" "00007945" "90" "1210" "0" "1210" "0" "c.1210G>T" "r.(?)" "p.(Glu404Ter)" "" "" "" "0000283935" "00007945" "30" "1237" "-14" "1237" "-13" "c.1237-14_1237-13del" "r.(=)" "p.(=)" "" "" "" "0000283938" "00007945" "10" "268" "-22" "268" "-22" "c.268-22A>T" "r.(=)" "p.(=)" "" "" "" "0000283939" "00007945" "10" "378" "145" "378" "145" "c.378+145G>A" "r.(=)" "p.(=)" "" "" "" "0000283940" "00007945" "10" "555" "148" "555" "148" "c.555+148C>G" "r.(=)" "p.(=)" "" "" "" "0000283941" "00007945" "10" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Pro309=)" "" "" "" "0000287502" "00007945" "90" "1210" "0" "1210" "0" "c.1210G>T" "r.(?)" "p.(Glu404Ter)" "" "" "" "0000287503" "00007945" "10" "268" "-22" "268" "-22" "c.268-22A>T" "r.(=)" "p.(=)" "" "" "" "0000287504" "00007945" "10" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Pro309=)" "" "" "" "0000336829" "00007945" "90" "1210" "0" "1210" "0" "c.1210G>T" "r.(?)" "p.(Glu404Ter)" "" "" "" "0000337601" "00007945" "90" "1391" "-1" "1391" "-1" "c.1391-1G>T" "r.spl?" "p.?" "" "" "" "0000337602" "00007945" "90" "1390" "1" "1390" "1" "c.1390+1G>A" "r.spl?" "p.?" "" "" "" "0000337603" "00007945" "90" "379" "-1" "379" "-1" "c.379-1G>A" "r.spl?" "p.?" "" "" "" "0000337604" "00007945" "90" "378" "2" "378" "2" "c.378+2T>C" "r.spl?" "p.?" "" "" "" "0000337605" "00007945" "90" "268" "-1" "268" "-1" "c.268-1G>C" "r.spl?" "p.?" "" "" "" "0000337606" "00007945" "10" "268" "-22" "268" "-22" "c.268-22A>T" "r.(=)" "p.(=)" "" "" "" "0000337608" "00007945" "30" "-11" "0" "-11" "0" "c.-11C>T" "r.(?)" "p.(=)" "" "" "" "0000339749" "00007945" "10" "1302" "0" "1302" "0" "c.1302C>T" "r.(?)" "p.(Cys434=)" "" "" "" "0000339750" "00007945" "10" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Pro309=)" "" "" "" "0000339751" "00007945" "30" "720" "0" "720" "0" "c.720T>C" "r.(?)" "p.(Val240=)" "" "" "" "0000339753" "00007945" "10" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Ala103=)" "" "" "" "0000339754" "00007945" "30" "33" "0" "33" "0" "c.33G>C" "r.(?)" "p.(Ser11=)" "" "" "" "0000341660" "00007945" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Ter)" "" "" "" "0000342343" "00007945" "90" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "" "" "" "0000342345" "00007945" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "" "" "0000342485" "00007945" "10" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Arg268Gly)" "" "" "" "0000342701" "00007945" "50" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Arg350Gln)" "" "" "" "0000342817" "00007945" "50" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Arg3Gly)" "" "" "" "0000342911" "00007945" "50" "1330" "0" "1330" "0" "c.1330A>G" "r.(?)" "p.(Arg444Gly)" "" "" "" "0000343633" "00007945" "90" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Asn188Ser)" "" "" "" "0000343973" "00007945" "90" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Asp189Asn)" "" "" "" "0000344357" "00007945" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "" "" "0000344376" "00007945" "90" "1130" "0" "1130" "0" "c.1130G>T" "r.(?)" "p.(Cys377Phe)" "" "" "" "0000344392" "00007945" "90" "1301" "0" "1301" "0" "c.1301G>A" "r.(?)" "p.(Cys434Tyr)" "" "" "" "0000345099" "00007945" "90" "378" "0" "378" "0" "c.378G>C" "r.(?)" "p.(Glu126Asp)" "" "" "" "0000345474" "00007945" "90" "157" "0" "157" "0" "c.157G>T" "r.(?)" "p.(Glu53Ter)" "" "" "" "0000345939" "00007945" "90" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Glu)" "" "" "" "0000346053" "00007945" "90" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "" "" "" "0000346343" "00007945" "50" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Gly97Asp)" "" "" "" "0000346399" "00007945" "90" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(His196Arg)" "" "" "" "0000346448" "00007945" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(His318Tyr)" "" "" "" "0000347480" "00007945" "90" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "" "" "" "0000347514" "00007945" "90" "773" "0" "773" "0" "c.773C>A" "r.(?)" "p.(Ala258Glu)" "" "" "" "0000347583" "00007945" "90" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "" "" "" "0000348368" "00007945" "30" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Pro309Ser)" "" "" "" "0000348721" "00007945" "90" "434" "0" "434" "0" "c.434C>G" "r.(?)" "p.(Ser145Ter)" "" "" "" "0000348946" "00007945" "90" "1002" "0" "1002" "0" "c.1002T>G" "r.(?)" "p.(Ser334Arg)" "" "" "" "0000349405" "00007945" "70" "830" "0" "830" "0" "c.830C>T" "r.(?)" "p.(Thr277Ile)" "" "" "" "0000372268" "00007945" "70" "320" "0" "320" "0" "c.320A>T" "r.(?)" "p.(Asn107Ile)" "" "" "" "0000506620" "00007945" "50" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Val435Met)" "" "" "" "0000506621" "00007945" "30" "1237" "-30" "1237" "-13" "c.1237-30_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000506622" "00007945" "30" "1237" "-26" "1237" "-13" "c.1237-26_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000506623" "00007945" "30" "1237" "-24" "1237" "-13" "c.1237-24_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000506624" "00007945" "30" "1237" "-20" "1237" "-13" "c.1237-20_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000506625" "00007945" "10" "1237" "-20" "1237" "-13" "c.1237-20_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000506626" "00007945" "30" "1237" "-18" "1237" "-13" "c.1237-18_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000506627" "00007945" "30" "1237" "-16" "1237" "-13" "c.1237-16_1237-13del" "r.(=)" "p.(=)" "" "" "" "0000506628" "00007945" "10" "1237" "-16" "1237" "-13" "c.1237-16_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000506629" "00007945" "70" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Ser399Asn)" "" "" "" "0000506630" "00007945" "90" "1124" "0" "1124" "0" "c.1124C>T" "r.(?)" "p.(Thr375Ile)" "" "" "" "0000506631" "00007945" "50" "1048" "0" "1048" "0" "c.1048C>T" "r.(?)" "p.(Arg350Trp)" "" "" "" "0000506632" "00007945" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Ter)" "" "" "" "0000506633" "00007945" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Leu272=)" "" "" "" "0000506634" "00007945" "90" "709" "0" "709" "0" "c.709C>T" "r.(?)" "p.(Gln237Ter)" "" "" "" "0000506635" "00007945" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "" "" "0000506636" "00007945" "30" "648" "0" "648" "0" "c.648T>A" "r.(?)" "p.(Asp216Glu)" "" "" "" "0000506637" "00007945" "50" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Met195Val)" "" "" "" "0000506638" "00007945" "90" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Pro174Arg)" "" "" "" "0000506639" "00007945" "30" "379" "-49" "379" "-49" "c.379-49G>A" "r.(=)" "p.(=)" "" "" "" "0000506640" "00007945" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Ala103Val)" "" "" "" "0000506641" "00007945" "50" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Arg87His)" "" "" "" "0000506642" "00007945" "30" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Val73Met)" "" "" "" "0000506643" "00007945" "30" "132" "20" "132" "20" "c.132+20C>T" "r.(=)" "p.(=)" "" "" "" "0000506644" "00007945" "10" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Pro18Leu)" "" "" "" "0000506645" "00007945" "50" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Arg3Gly)" "" "" "" "0000506646" "00007945" "50" "7" "0" "7" "0" "c.7C>G" "r.(?)" "p.(Arg3Gly)" "" "" "" "0000595715" "00007945" "50" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Pro174Arg)" "" "" "missense" "0000605581" "00007945" "70" "1158" "0" "1158" "0" "c.1158A>C" "r.(?)" "p.(Gln386His)" "" "" "" "0000605582" "00007945" "90" "905" "-1" "905" "-1" "c.905-1G>A" "r.spl?" "p.?" "" "" "" "0000605583" "00007945" "50" "263" "0" "263" "0" "c.263T>A" "r.(?)" "p.(Met88Lys)" "" "" "" "0000647644" "00007945" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343*)" "" "" "" "0000647645" "00007945" "50" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Asp)" "" "" "" "0000647646" "00007945" "70" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Ser186Asn)" "" "" "" "0000647647" "00007945" "50" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Met44Ile)" "" "" "" "0000653474" "00007945" "95" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "" "" "" "0000653976" "00007945" "30" "816" "0" "816" "0" "c.816C>T" "r.(?)" "p.(Leu272=)" "" "" "" "0000653977" "00007945" "70" "521" "0" "521" "0" "c.521C>G" "r.(?)" "p.(Pro174Arg)" "" "" "" "0000675776" "00007945" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Ile487=)" "" "" "" "0000675777" "00007945" "10" "1237" "-22" "1237" "-13" "c.1237-22_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000675778" "00007945" "90" "1189" "0" "1189" "0" "c.1189G>A" "r.(?)" "p.(Gly397Arg)" "" "" "" "0000675779" "00007945" "50" "532" "0" "532" "0" "c.532A>C" "r.(?)" "p.(Asn178His)" "" "" "" "0000675780" "00007945" "30" "379" "-15" "379" "-15" "c.379-15A>T" "r.(=)" "p.(=)" "" "" "" "0000688109" "00007945" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Pro309Ser)" "" "" "" "0000717358" "00007945" "90" "1431" "0" "1433" "0" "c.1431_1433dup" "r.(?)" "p.(Lys477dup)" "" "" "" "0000717359" "00007945" "90" "1210" "0" "1210" "0" "c.1210G>T" "r.(?)" "p.(Glu404Ter)" "" "" "" "0000717360" "00007945" "30" "378" "19" "378" "19" "c.378+19G>A" "r.(=)" "p.(=)" "" "" "" "0000795865" "00007945" "90" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Arg233His)" "" "" "missense" "0000795866" "00007945" "50" "994" "0" "994" "0" "c.994G>C" "r.(?)" "p.(Ala332Pro)" "" "" "missense" "0000799241" "00007945" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Glu499Lys)" "" "" "" "0000799242" "00007945" "90" "904" "0" "904" "1" "c.904_904+1insCTGT" "r.spl?" "p.?" "" "" "" "0000799244" "00007945" "50" "713" "0" "713" "0" "c.713A>G" "r.(?)" "p.(Asp238Gly)" "" "" "" "0000799245" "00007945" "70" "214" "0" "214" "0" "c.214A>C" "r.(?)" "p.(Thr72Pro)" "" "" "" "0000799246" "00007945" "50" "163" "0" "163" "0" "c.163G>T" "r.(?)" "p.(Asp55Tyr)" "" "" "" "0000799247" "00007945" "30" "96" "0" "96" "0" "c.96C>A" "r.(?)" "p.(Ala32=)" "" "" "" "0000825316" "00007945" "70" "1056" "0" "1056" "0" "c.1056dup" "r.(?)" "p.(Leu353Serfs*8)" "" "" "" "0000831664" "00007945" "70" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(His318Tyr)" "" "" "missense" "0000831665" "00007945" "70" "1394" "0" "1394" "0" "c.1394A>G" "r.(?)" "p.(Tyr465Cys)" "" "" "missense" "0000848667" "00007945" "10" "1237" "-14" "1237" "-13" "c.1237-14_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000848668" "00007945" "30" "739" "-70" "739" "-70" "c.739-70A>C" "r.(=)" "p.(=)" "" "" "" "0000857390" "00007945" "30" "1237" "-26" "1237" "-13" "c.1237-26_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000857391" "00007945" "30" "1237" "-24" "1237" "-13" "c.1237-24_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000857392" "00007945" "10" "1237" "-18" "1237" "-13" "c.1237-18_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000857393" "00007945" "10" "1237" "-16" "1237" "-13" "c.1237-16_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000857394" "00007945" "10" "1237" "-14" "1237" "-13" "c.1237-14_1237-13dup" "r.(=)" "p.(=)" "" "" "" "0000857395" "00007945" "50" "1118" "0" "1118" "0" "c.1118A>T" "r.(?)" "p.(Asn373Ile)" "" "" "" "0000857396" "00007945" "10" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Pro309=)" "" "" "" "0000857397" "00007945" "50" "677" "0" "677" "0" "c.677C>A" "r.(?)" "p.(Ala226Glu)" "" "" "" "0000857398" "00007945" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Gln212*)" "" "" "" "0000857399" "00007945" "70" "302" "0" "302" "0" "c.302G>C" "r.(?)" "p.(Arg101Pro)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 302 "{{screeningid}}" "{{variantid}}" "0000035889" "0000063014" "0000035890" "0000063015" "0000035891" "0000063016" "0000035892" "0000063017" "0000035893" "0000063018" "0000035894" "0000063019" "0000035895" "0000063020" "0000035896" "0000063021" "0000072724" "0000116109" "0000072725" "0000116110" "0000072726" "0000116111" "0000072727" "0000116112" "0000072728" "0000116108" "0000072729" "0000116121" "0000072730" "0000116122" "0000072731" "0000116123" "0000072732" "0000116125" "0000072733" "0000116126" "0000072734" "0000116128" "0000072735" "0000116129" "0000072736" "0000116131" "0000072737" "0000116133" "0000072738" "0000116120" "0000072739" "0000116134" "0000072740" "0000116137" "0000072741" "0000116138" "0000072742" "0000116139" "0000072743" "0000116140" "0000072744" "0000116141" "0000072745" "0000116142" "0000072746" "0000116143" "0000072747" "0000116144" "0000072748" "0000116146" 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