### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FHL1) # 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}}" "FHL1" "four and a half LIM domains 1" "X" "q26.3" "unknown" "NG_015895.1" "UD_132118850954" "" "https://www.LOVD.nl/FHL1" "" "1" "3702" "2273" "300163" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/FHL1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00000" "2009-03-26 00:00:00" "00006" "2019-12-30 11:24:54" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025249" "FHL1" "transcript variant 1" "002" "NM_001159702.2" "" "NP_001153174.1" "" "" "" "-329" "2377" "972" "135229559" "135293518" "00006" "2017-11-27 16:04:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02178" "SPM" "myopathy, scapuloperoneal, X-linked dominant (SPM)" "XLD" "300695" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02179" "XMPMA;EDMD6" "myopathy, X-linked, with postural muscle atrophy (XMPMA, Emery-Dreifuss muscular dystrophy 6 (EDMD-6))" "XLR" "300696" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02180" "RBMX1A" "myopathy, reducing body, X-linked, type 1a (RBMX-1A)" "XLD" "300717" "" "" "X-linked dominant, severe, infantile or early childhood onset" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02181" "RBMX1B" "myopathy, reducing body, X-linked, type 1b (RBMX-1B)" "XL" "300718" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05350" "EDMD" "dystrophy, muscular, Emery-Dreifuss (EDMD)" "" "" "" "" "" "00006" "2017-11-24 16:21:34" "" "" "05351" "FCMSU" "faciocardiomusculoskeletal syndrome, Uruguay type (FCMSU)" "" "" "" "" "" "00006" "2017-11-27 16:19:41" "00006" "2021-12-10 21:51:32" "05511" "RBM" "myopathy, reducing body (RBM)" "" "" "" "" "" "00006" "2018-11-11 16:12:12" "" "" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "06842" "FCMSU" "Uruguay faciocardiomusculoskeletal syndrome" "XLR" "300280" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "FHL1" "02178" "FHL1" "02179" "FHL1" "02180" "FHL1" "02181" "FHL1" "05351" "FHL1" "06842" ## Individuals ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00137093" "" "" "" "1" "" "02324" "" "unaffected parents" "M" "no" "United States" "81y" "0" "" "" "black, Indian" "patient2" "00143185" "" "" "" "1" "" "02324" "" "2-generation family, parents and sister not affected" "F" "" "United States" "" "0" "" "" "" "patient1" "00205451" "" "" "" "2" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "" "" "" "" "00205452" "" "" "" "1" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "" "" "" "" "00205453" "" "" "" "9" "" "00006" "{PMID:Gueneau 2009:19716112}" "6-generation family, 9 affecteds" "M" "" "" ">41y" "0" "" "" "Europe" "" "00205454" "" "" "" "1" "" "00006" "{PMID:Gueneau 2009:19716112}" "4-generation family, 1 affected" "M" "" "" ">30y" "0" "" "" "Europe" "" "00205455" "" "" "" "2" "" "00006" "{PMID:Gueneau 2009:19716112}" "3-generation family, 2 affecteds" "M" "" "" ">35y" "0" "" "" "Europe" "" "00205456" "" "" "" "3" "" "00006" "{PMID:Gueneau 2009:19716112}" "4-generation family, 3 affecteds" "M" "" "Japan" ">23y" "0" "" "" "" "" "00205457" "" "" "" "5" "" "00006" "{PMID:Gueneau 2009:19716112}" "4-generation consanguineous family, 5 affecteds" "M" "" "Saudi Arabia" ">18y" "0" "" "" "" "" "00205458" "" "" "" "1" "" "00006" "{PMID:Gueneau 2009:19716112}" "" "M" "" "" ">26y" "0" "" "" "Europe" "" "00205459" "" "" "" "1" "" "00006" "{PMID:Gueneau 2009:19716112}" "4-generation family, 1 affected" "M" "" "" ">54y" "0" "" "" "Europe" "" "00205460" "" "" "" "8" "" "00006" "{PMID:Wilhelmesen 1996, FamC:8619529}" "4-generation family, 16 affecteds (8 male, 8 female)" "M" "" "United States" "" "0" "" "" "Italy" "" "00205461" "" "" "" "8" "" "00006" "{PMID:Wilhelmesen 1996, FamC:8619529}" "4-generation family, 16 affecteds (8 male, 8 female)" "F" "" "United States" "" "0" "" "" "Italy" "" "00205462" "" "" "" "4" "" "00006" "{PMID:Windpassinger 2008:18179888}" "7-generation family, 12 affecteds" "M" "" "Australia" "" "0" "" "" "" "" "00205463" "" "" "" "1" "" "00006" "{PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205464" "" "" "" "1" "" "00006" "{PMID:Schwarzmeier 1971:4250729}, {PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205465" "" "" "" "1" "" "00006" "{PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205466" "" "" "" "1" "" "00006" "{PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205467" "" "" "" "1" "" "00006" "{PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205468" "" "" "" "1" "" "00006" "{PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205469" "" "" "" "1" "" "00006" "{PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205470" "" "" "" "1" "" "00006" "{PMID:Windpassinger 2008:18179888}" "male family 18179888" "M" "" "Australia" "" "0" "" "" "" "" "00205471" "" "" "" "4" "" "00006" "{PMID:Windpassinger 2008:18179888}" "5-generation family, 4 affecteds" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00205472" "" "" "" "1" "" "00006" "{PMID:Schessl 2008:18274675}, {OMIM300163:0004}" "" "F" "" "United States" "" "0" "" "" "" "" "00205473" "" "" "" "1" "" "00006" "{PMID:Schessl 2008:18274675}, {OMIM300163:0005}" "" "F" "" "United States" "" "0" "" "" "" "" "00205474" "" "" "" "1" "" "00006" "{PMID:Schessl 2008:18274675}, {OMIM300163:0006}" "mother of 18274675.3; 3-generation family" "F" "" "United States" "" "0" "" "" "" "" "00205475" "" "" "" "1" "" "00006" "{PMID:Schessl 2008:18274675}, {OMIM300163:0006}" "son of 18274675.m3; 3-generation family" "M" "" "United States" ">21y" "0" "" "" "" "" "00205476" "" "" "" "1" "" "00006" "{PMID:Schessl 2008:18274675}, {OMIM300163:0007}" "mother of 18274675.4; 2-generation family" "F" "" "United States" "" "0" "" "" "" "" "00205477" "" "" "" "1" "" "00006" "{PMID:Schessl 2008:18274675}, {OMIM300163:0007}" "son of 18274675.m4; 2-generation family" "M" "" "United States" ">18y" "0" "" "" "" "" "00205478" "" "" "" "1" "" "00006" "{PMID:Kiyomoto 1995:7722535}" "" "F" "" "Japan" "" "0" "" "" "" "" "00205479" "" "" "" "1" "" "00006" "{PMID:Ohsawa 2007:16919903}" "daugther of 19171836.5" "F" "" "Japan" "" "0" "" "" "" "" "00205480" "" "" "" "1" "" "00006" "{PMID:Ohsawa 2007:16919903}" "mother of 19171836.4" "F" "" "Japan" "" "0" "" "" "" "" "00205481" "" "" "" "1" "" "00006" "{PMID:Kobayashi 1992:1321016}" "" "F" "" "Japan" "" "0" "" "" "" "" "00205482" "" "" "" "1" "" "00006" "{PMID:Kiyomoto 1995:7709723}" "" "M" "" "Japan" "" "0" "" "" "" "" "00205483" "" "" "" "3" "" "00006" "{PMID:Tiffin 2013:23456229}" "3-generation family, 3 affected males, 2 unaffected heterozygous carrier females" "M" "no" "New Zealand" "" "0" "" "" "" "" "00205484" "" "" "" "6" "" "01715" "" "family, 6 affected" "F" "no" "Iran" "" "0" "" "" "" "" "00205485" "" "" "" "4" "" "00006" "{PMID:Pen 2013:25724586}" "4-generation family, 4 affected males (3 generations), 3 unaffected heterozygous carrier females" "M" "no" "Denmark" "" "0" "" "" "" "" "00220081" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220338" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220437" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220496" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220558" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220699" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220714" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220723" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220814" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221087" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221271" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221319" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221761" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221832" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221891" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221905" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221915" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222040" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222068" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222143" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00289134" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "P3" "00295331" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302992" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat37" "00314291" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314292" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00314536" "" "" "" "1" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "patient" "00316225" "" "" "" "4" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316226" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316227" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316228" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316229" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316230" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316231" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316232" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316233" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316234" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316235" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00361990" "" "" "" "1" "" "04047" "{PMID:Saat 2021:33963534}" "" "M" "no" "Turkey" "" "0" "" "" "" "Pat12" "00417659" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00430893" "" "" "" "1" "" "00006" "{PMID:Waddell 2011:21683594}" "" "M" "" "Australia" "" "0" "" "" "" "Pat1" "00447879" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "282220" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 80 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00137093" "00198" "00143185" "00198" "00205451" "00187" "00205452" "00187" "00205453" "05350" "00205454" "05350" "00205455" "05350" "00205456" "05350" "00205457" "05350" "00205458" "05350" "00205459" "05350" "00205460" "02178" "00205461" "02178" "00205462" "02179" "00205463" "02179" "00205464" "02179" "00205465" "02179" "00205466" "02179" "00205467" "02179" "00205468" "02179" "00205469" "02179" "00205470" "02179" "00205471" "05121" "00205472" "05511" "00205473" "05511" "00205474" "05511" "00205475" "05511" "00205476" "05511" "00205477" "05511" "00205478" "05511" "00205479" "05511" "00205480" "05511" "00205481" "05511" "00205482" "05511" "00205483" "05350" "00205484" "00244" "00205485" "05350" "00220081" "05126" "00220338" "05126" "00220437" "05126" "00220496" "05126" "00220558" "05126" "00220699" "05126" "00220714" "05126" "00220723" "05126" "00220814" "05126" "00221087" "05126" "00221271" "05126" "00221319" "05126" "00221761" "05126" "00221832" "05126" "00221891" "05126" "00221905" "05126" "00221915" "05126" "00222040" "05126" "00222068" "05126" "00222143" "05126" "00289134" "00244" "00295331" "00198" "00302992" "05521" "00314291" "05126" "00314292" "05126" "00314536" "05126" "00316225" "04172" "00316226" "04172" "00316227" "04172" "00316228" "04172" "00316229" "04172" "00316230" "04172" "00316231" "04172" "00316232" "04172" "00316233" "04172" "00316234" "04172" "00316235" "04172" "00361990" "05511" "00417659" "00352" "00430893" "05121" "00447879" "02179" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 00244, 00352, 01157, 02178, 02179, 02180, 02181, 04172, 05121, 05126, 05350, 05351, 05511, 05521, 06842 ## Count = 55 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000115933" "00198" "00137093" "02324" "Unknown" "79y" "adult onset, progressive upper and lower limb proximal weakness, scapular winging, arrhythmia, artificial ventilation, CK elevation >10x; muscle biopsy shows myopathic and dystrophic features" "" "" "" "" "" "" "" "" "" "" "" "" "0000115934" "00198" "00143185" "02324" "Unknown" "33y" "muscle weakness and wasting in legs, later in arms, severe scapular winging, hyperlordosis, ankle contractures, waddling gait, CK 650 U/L; EMG myopathic pattern; muscle biopsy shows myopathic features and lobulated fibres: no heart and lung involvement" "23y" "" "" "muscle weakness, wasting in legs" "" "" "" "" "" "" "" "" "0000153628" "00187" "00205451" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation, X-linked (MRX)" "" "0000153629" "00187" "00205452" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation, X-linked (MRX)" "" "0000153630" "05350" "00205453" "00006" "Familial" "" "muscle weakness/wasting UL (scapulo-humeral) / LL (pelvic, distal); rigid spine, stiff neck, contractures elbow/ankle/knees/hips, scoliosis; elevated serum creatine phosphokinase (HP:0003236) 6x" "11y" "" "" "stiff neck, unable to roll over" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153631" "05350" "00205454" "00006" "Familial" "" "muscle weakness/wasting UL (scapular) / LL (pelvic); rigid spine, stiff neck, contractures elbow/ankle/knees, muscle hypertrophy, dysphonia due to vocal cord palsy, swallowing difficulties; elevated serum creatine phosphokinase (HP:0003236) 2.3-3.7x" "6y" "" "" "contractures elbows and Achilles tendons" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153632" "05350" "00205455" "00006" "Familial" "" "muscle weakness/wasting UL (scapular, scapula alata) / LL (pelvic, peroneal); rigid spine, stiff neck, contractures elbow/ankle, scoliosis (arthrodesisat 19y); elevated serum creatine phosphokinase (HP:0003236) 4.5x" "14y" "" "" "stiff neck" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153633" "05350" "00205456" "00006" "Familial" "" "muscle weakness/wasting UL (scapular, humeral) / LL (pelvic, peroneal), rigid spine, stiff neck; contractures ankle/hips, ptosis; ; elevated serum creatine phosphokinase (HP:0003236) 2x" "4y" "" "" "abnormal gait, contracture ankle joint" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153634" "05350" "00205457" "00006" "Familial" "" "muscle weakness/wasting UL (scapular) / LL (peroneal); rigid spine, stiff neck, contractures elbow/ankle/wrists/knees, scoliosis, dysphonia due to vocal cord palsy; no elevated serum creatine phosphokinase (-HP:0003236)" "10y" "" "" "stiff neck" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153635" "05350" "00205458" "00006" "Isolated (sporadic)" "" "muscle weakness/wasting UL (humeral) / LL (peroneal); contractures elbow/ankle, dysphonia due to vocal cord palsy; elevated serum creatine phosphokinase (HP:0003236) 2.3x" "10y" "" "" "tiptoe walking" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153636" "05350" "00205459" "00006" "Familial" "" "muscle weakness/wasting LL (pelvic); stiff neck, contractures ankle/shoulders, muscle hypertrophy (paravertebral and shoulders); elevated serum creatine phosphokinase (HP:0003236) 2.5x" "48y" "" "" "difficulties climbing stairs / get up from squatting position" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153637" "02178" "00205460" "00006" "Familial" "" "7/8 wheelchair bound 35.9y (±4.0y), 1 walking with a cane 63y" "26y" "" "" "" "WB FHL1 reduced" "" "" "" "" "SPM" "X-linked dominant scapuloperoneal myopathy" "" "0000153638" "02178" "00205461" "00006" "Familial" "" "4/8 wheelchair bound 54.8y (±19y), 4 walking (33-74y)" "34y6m" "" "" "" "WB FHL1 reduced" "" "" "" "" "SPM" "X-linked dominant scapuloperoneal myopathy" "" "0000153639" "02179" "00205462" "00006" "Familial" "" "" "" "" "" "" "WB FHL1 near absent" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153640" "02179" "00205463" "00006" "Familial" "" "EMG myopathic; early athletic habitus; elevated serum creatine phosphokinase (HP:0003236) 620" "26y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153641" "02179" "00205464" "00006" "Familial" "" "EMG myopathic; early athletic habitus; musle biopsy myopathic; cardiomyopathy with arrhythmia; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 500-900" "30y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153642" "02179" "00205465" "00006" "Familial" "" "EMG myopathic; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 800-1200" "30y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153643" "02179" "00205466" "00006" "Familial" "" "EMG myopathic; early athletic habitus; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 780" "30y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153644" "02179" "00205467" "00006" "Familial" "" "EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 700" "30y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153645" "02179" "00205468" "00006" "Familial" "" "EMG myopathic; musle biopsy myopathic; ; hypertrophic cardiomyopathy; ; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 550" "31y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153646" "02179" "00205469" "00006" "Familial" "" "EMG myopathic; MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; normal heart; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 400-1774" "32y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153647" "02179" "00205470" "00006" "Familial" "" "MRI muscle selective atrophy, bent spine; early athletic habitus; musle biopsy myopathic; hypertrophic cardiomyopathy; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 620" "32y" "" "" "" "" "" "" "" "" "XMPMA" "myopathy, X-linked, with postural muscle atrophy" "" "0000153648" "05121" "00205471" "00006" "Familial" "" "EMG normal; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 1300" "35y" "" "" "" "WB FHL1 near absent" "" "" "" "" "" "muscular dystrophy, Becker (BMD);XMPMA" "" "0000153649" "05511" "00205472" "00006" "Isolated (sporadic)" "" "classic early onset severe RBM; 8y tracheostomy, G-tube, no antigravity strength; normal ECHO; 3y-lost ability to walk (HP:0006957)" "" "" "" "weakness" "" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153650" "05511" "00205473" "00006" "Isolated (sporadic)" "" "classic early onset severe RBM; 6y loss all antigravity strength, death respiratory failure; normal ECHO; 4y6m-lost ability to walk (HP:0006957)" "2y" "" "" "progressive weakness" "" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153651" "05511" "00205474" "00006" "Isolated (sporadic)" "" "normal ECHO; 40y-lost ability to walk (HP:0006957)" "30y" "" "" "weakness" "" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153652" "05511" "00205475" "00006" "Familial" "" "11y ventilatory support; 18y dilated cardiomyopathy; reduced fractional shortening; 8y-lost ability to walk (HP:0006957)" "5y" "" "" "progressive weakness" "" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153653" "05511" "00205476" "00006" "Isolated (sporadic)" "" "normal ECHO" "35y" "" "" "weakness" "" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153654" "05511" "00205477" "00006" "Familial" "" "progressive weakness and contractures; normal ECHO; 16y-lost ability to walk (HP:0006957)" "10y" "" "" "weakness, rigid spine" "" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153655" "05511" "00205478" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "IHC immunoreactive depositions" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153656" "05511" "00205479" "00006" "Familial" "" "" "" "" "" "" "IHC FHL1 reduced, immunoreactive depositions" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153657" "05511" "00205480" "00006" "Familial" "" "" "" "" "" "" "IHC FHL1 mildly reduced, immunoreactive depositions" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153658" "05511" "00205481" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "IHC FHL1 reduced, immunoreactive depositions" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153659" "05511" "00205482" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "IHC FHL1 mild increase, immunoreactive depositions" "" "" "" "" "RBMX-1" "reducing body myopathy (RBM)" "" "0000153660" "05350" "00205483" "00006" "Familial, X-linked recessive" "" "proportionate short stature, facial dysmorphism, pulmonary valvular stenosis, thoracic scoliosis, brachydactyly, pectus deformities, genital abnormalities" "" "" "" "" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000153661" "00244" "00205484" "01715" "Familial, X-linked dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "scapuloperoneal myopathy, X-linked dominant" "" "0000153662" "05350" "00205485" "00006" "Familial, X-linked recessive" "" "facila dysmorphy, pulmonary artery hypoplasia" "" "" "" "" "" "" "" "" "" "EDMD-6" "Emery-Dreifuss muscular dystrophy" "" "0000222767" "00244" "00289134" "00006" "Familial, X-linked dominant" "" "scapuloperoneal myopathy" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000230075" "05521" "00302992" "00006" "Familial, X-linked" "" "Focal epilepsy, temporal lobe epilepsy; age onset adolescent" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000239971" "04172" "00316225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239972" "04172" "00316226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239973" "04172" "00316227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239974" "04172" "00316228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239975" "04172" "00316229" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239976" "04172" "00316230" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239977" "04172" "00316231" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239978" "04172" "00316232" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239979" "04172" "00316233" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239980" "04172" "00316234" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239981" "04172" "00316235" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000257383" "05511" "00361990" "04047" "Isolated (sporadic)" "" "Muscle weakness HP:0001324" "" "" "" "" "" "" "" "" "" "" "" "" "0000321501" "05121" "00430893" "00006" "Unknown" "05y" "see paper; ..., 7y-died respiratory failure; normal early gross motor milestones; rapidly progressive muscle weakness; muscle biopsy dystrophic; 4y-repeated falls, waddling gait, difficulty sitting upright, positive Gowers’ sign wasting shoulder girdle and quadriceps muscles, shoulder weakness, lumbar lordosis, respiratory muscle weakness; 5y-normal nerve conduction, ECG normal, elevated serum CK level (700 µ/l), biceps muscle EMG myopathic changes" "02y06m" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000337073" "02179" "00447879" "01164" "Familial, X-linked recessive" "15y" "Positional foot deformity, Vocal cord paresis, Scoliosis, Hyperreflexia, Scapular winging, Abnormality of the face, Hip contracture, Knee contracture, Retrognathia, Dystonia" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 80 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000137933" "00137093" "1" "02324" "02324" "2017-11-26 15:07:37" "00006" "2017-11-27 15:57:55" "DOVAM;SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000144042" "00143185" "1" "02324" "00006" "2017-11-27 16:28:17" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing" "0000206480" "00205451" "1" "00006" "00006" "2009-04-08 14:01:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000206481" "00205452" "1" "00006" "00006" "2009-04-08 14:01:02" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000206482" "00205453" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206483" "00205454" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206484" "00205455" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206485" "00205456" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206486" "00205457" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206487" "00205458" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000206488" "00205459" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206489" "00205460" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206490" "00205461" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206491" "00205462" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206492" "00205463" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206493" "00205464" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206494" "00205465" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206495" "00205466" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206496" "00205467" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206497" "00205468" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206498" "00205469" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206499" "00205470" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206500" "00205471" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000206501" "00205472" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206502" "00205473" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000206503" "00205474" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000206504" "00205475" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000206505" "00205476" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-09 19:08:25" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000206506" "00205477" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "RT-PCR;SEQ" "RNA;DNA" "" "" "0000206507" "00205478" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000206508" "00205479" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206509" "00205480" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-04 15:57:33" "SEQ" "DNA" "" "" "0000206510" "00205481" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000206511" "00205482" "1" "00006" "00006" "2009-09-11 20:47:21" "00006" "2012-03-09 19:08:25" "SEQ" "DNA" "" "" "0000206512" "00205483" "1" "00006" "00006" "2015-06-20 21:47:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000206513" "00205484" "1" "01715" "00006" "2016-02-19 00:39:11" "00006" "2016-03-18 13:06:54" "SEQ-NG-I" "DNA" "" "" "0000206514" "00205485" "1" "00006" "00006" "2015-06-20 21:22:50" "00006" "2015-06-20 21:48:26" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000221152" "00220081" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221409" "00220338" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221508" "00220437" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221567" "00220496" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221629" "00220558" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221770" "00220699" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221785" "00220714" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221794" "00220723" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221885" "00220814" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222158" "00221087" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222342" "00221271" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222390" "00221319" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222832" "00221761" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222903" "00221832" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222962" "00221891" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222976" "00221905" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222986" "00221915" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223111" "00222040" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223139" "00222068" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223214" "00222143" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000290304" "00289134" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000296499" "00295331" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304117" "00302992" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000315464" "00314291" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315465" "00314292" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000315709" "00314536" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317407" "00316225" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317408" "00316226" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317409" "00316227" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317410" "00316228" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317411" "00316229" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317412" "00316230" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317413" "00316231" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317414" "00316232" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317415" "00316233" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317416" "00316234" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317417" "00316235" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000363218" "00361990" "1" "04047" "04047" "2021-04-13 11:25:31" "" "" "SEQ-NG" "DNA" "" "" "0000418952" "00417659" "1" "04384" "04384" "2022-09-21 11:46:24" "" "" "SEQ-NG" "DNA" "" "" "0000432304" "00430893" "1" "00006" "00006" "2023-01-24 19:14:46" "" "" "SEQ" "DNA" "" "" "0000449451" "00447879" "1" "01164" "01164" "2024-01-30 11:18:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{geneid}}" "0000137933" "FHL1" "0000137933" "FLNC" "0000144042" "FHL1" "0000206480" "FHL1" "0000206481" "FHL1" "0000206482" "FHL1" "0000206483" "FHL1" "0000206484" "FHL1" "0000206485" "FHL1" "0000206486" "FHL1" "0000206487" "FHL1" "0000206488" "FHL1" "0000206489" "FHL1" "0000206490" "FHL1" "0000206491" "FHL1" "0000206492" "FHL1" "0000206493" "FHL1" "0000206494" "FHL1" "0000206495" "FHL1" "0000206496" "FHL1" "0000206497" "FHL1" "0000206498" "FHL1" "0000206499" "FHL1" "0000206500" "FHL1" "0000206501" "FHL1" "0000206502" "FHL1" "0000206503" "FHL1" "0000206504" "FHL1" "0000206505" "FHL1" "0000206506" "FHL1" "0000206507" "FHL1" "0000206508" "FHL1" "0000206509" "FHL1" "0000206510" "FHL1" "0000206511" "FHL1" "0000206512" "FHL1" "0000206513" "FHL1" "0000206514" "FHL1" "0000290304" "FHL1" "0000304117" "FHL1" "0000315464" "FHL1" "0000315465" "FHL1" "0000315709" "FHL1" "0000317407" "FHL1" "0000317408" "FHL1" "0000317409" "FHL1" "0000317410" "FHL1" "0000317411" "FHL1" "0000317412" "FHL1" "0000317413" "FHL1" "0000317414" "FHL1" "0000317415" "FHL1" "0000317416" "FHL1" "0000317417" "FHL1" "0000418952" "FHL1" "0000432304" "FHL1" "0000449451" "FHL1" ## 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 = 202 "{{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}}" "0000002170" "20" "30" "X" "135251688" "135251688" "dup" "0" "00037" "FHL1_000026" "g.135251688dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136169529dup" "" "likely benign" "" "0000002171" "20" "30" "X" "135252236" "135252236" "del" "0" "00037" "FHL1_000025" "g.135252236del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136170077del" "" "likely benign" "" "0000003257" "20" "30" "X" "135251688" "135251688" "dup" "0" "00037" "FHL1_000028" "g.135251688dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136169529dup" "" "likely benign" "" "0000003258" "20" "30" "X" "135252234" "135252234" "del" "0" "00037" "FHL1_000029" "g.135252234del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136170075del" "" "likely benign" "" "0000007725" "20" "30" "X" "135290250" "135290250" "subst" "0" "00037" "FHL1_000027" "g.135290250G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136208091G>A" "" "likely benign" "" "0000009867" "20" "30" "X" "135251688" "135251688" "dup" "0" "00037" "FHL1_000026" "g.135251688dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136169529dup" "" "likely benign" "" "0000009868" "20" "30" "X" "135252236" "135252236" "del" "0" "00037" "FHL1_000025" "g.135252236del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136170077del" "" "likely benign" "" "0000009869" "20" "30" "X" "135290250" "135290250" "subst" "0" "00037" "FHL1_000027" "g.135290250G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136208091G>A" "" "likely benign" "" "0000011235" "20" "30" "X" "135251688" "135251688" "dup" "0" "00037" "FHL1_000028" "g.135251688dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136169529dup" "" "likely benign" "" "0000011236" "20" "30" "X" "135252234" "135252234" "del" "0" "00037" "FHL1_000029" "g.135252234del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.136170075del" "" "likely benign" "" "0000234249" "0" "90" "X" "135290783" "135290783" "subst" "0" "02324" "FHL1_000030" "g.135290783G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136208624G>C" "" "pathogenic" "" "0000234250" "0" "90" "X" "135290658" "135290658" "subst" "0" "02324" "FHL1_000031" "g.135290658T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136208499T>A" "" "pathogenic" "" "0000247797" "0" "50" "X" "135288704" "135288704" "subst" "5.59337E-6" "02330" "FHL1_000036" "g.135288704A>G" "" "" "" "FHL1(NM_001159704.1):c.113A>G (p.N38S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206545A>G" "" "VUS" "" "0000249599" "0" "70" "X" "135290693" "135290693" "del" "0" "02325" "FHL1_000044" "g.135290693del" "" "" "" "FHL1(NM_001159704.1):c.581delA (p.K194Sfs*64)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136208534del" "" "likely pathogenic" "" "0000249758" "0" "50" "X" "135288656" "135288656" "subst" "5.5934E-6" "02325" "FHL1_000035" "g.135288656A>C" "" "" "" "FHL1(NM_001159704.1):c.65A>C (p.K22T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206497A>C" "" "VUS" "" "0000252708" "0" "50" "X" "135291470" "135291470" "subst" "0" "02326" "FHL1_000045" "g.135291470A>G" "" "" "" "FHL1(NM_001159702.3):c.757A>G (p.K253E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209311A>G" "" "VUS" "" "0000276720" "0" "10" "X" "135288561" "135288561" "subst" "0.00166789" "02330" "FHL1_000033" "g.135288561C>T" "" "" "" "FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206402C>T" "" "benign" "" "0000276721" "0" "10" "X" "135288761" "135288761" "subst" "0" "02330" "FHL1_000038" "g.135288761C>G" "" "" "" "FHL1(NM_001159704.1):c.156+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206602C>G" "" "benign" "" "0000276722" "0" "10" "X" "135288752" "135288752" "subst" "0.00143812" "02330" "FHL1_000037" "g.135288752C>T" "" "" "" "FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206593C>T" "" "benign" "" "0000276723" "0" "30" "X" "135288613" "135288616" "del" "0" "02330" "FHL1_000034" "g.135288613_135288616del" "" "" "" "FHL1(NM_001159704.1):c.22_25delCACT (p.H8Tfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206454_136206457del" "" "likely benign" "" "0000276724" "0" "10" "X" "135290060" "135290060" "subst" "0.00165061" "02330" "FHL1_000041" "g.135290060C>T" "" "" "" "FHL1(NM_001159702.2):c.441C>T (p.D147=), FHL1(NM_001159704.1):c.441C>T (p.D147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207901C>T" "" "benign" "" "0000276725" "0" "10" "X" "135290069" "135290069" "subst" "0.00174041" "02330" "FHL1_000042" "g.135290069C>T" "" "" "" "FHL1(NM_001159704.1):c.450C>T (p.C150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207910C>T" "" "benign" "" "0000276726" "0" "10" "X" "135292018" "135292022" "del" "0" "02330" "FHL1_000052" "g.135292018_135292022del" "" "" "" "FHL1(NM_001159704.1):c.689-12_689-8delTTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209859_136209863del" "" "benign" "" "0000276727" "0" "10" "X" "135292017" "135292017" "subst" "0" "02330" "FHL1_000051" "g.135292017T>C" "" "" "" "FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209858T>C" "" "benign" "" "0000276729" "0" "10" "X" "135292021" "135292021" "del" "0" "02330" "FHL1_000049" "g.135292021del" "" "" "" "FHL1(NM_001159702.2):c.889-9delT, FHL1(NM_001159704.1):c.689-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209862del" "" "benign" "" "0000276731" "0" "10" "X" "135291619" "135291619" "subst" "2.27292E-5" "02330" "FHL1_000046" "g.135291619G>A" "" "" "" "FHL1(NM_001159704.1):c.689-411G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209460G>A" "" "benign" "" "0000276732" "0" "10" "X" "135292022" "135292022" "subst" "0.517316" "02330" "FHL1_000055" "g.135292022C>T" "" "" "" "FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209863C>T" "" "benign" "" "0000276733" "0" "10" "X" "135292164" "135292164" "subst" "0.0110395" "02330" "FHL1_000002" "g.135292164G>A" "" "" "" "FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136210005G>A" "" "benign" "" "0000280790" "0" "30" "X" "135288561" "135288561" "subst" "0.00166789" "02325" "FHL1_000033" "g.135288561C>T" "" "" "" "FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206402C>T" "" "likely benign" "" "0000280791" "0" "30" "X" "135288761" "135288761" "subst" "0" "02325" "FHL1_000038" "g.135288761C>G" "" "" "" "FHL1(NM_001159704.1):c.156+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206602C>G" "" "likely benign" "" "0000280792" "0" "10" "X" "135288752" "135288752" "subst" "0.00143812" "02325" "FHL1_000037" "g.135288752C>T" "" "" "" "FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206593C>T" "" "benign" "" "0000280793" "0" "30" "X" "135289238" "135289238" "subst" "5.60526E-6" "02325" "FHL1_000040" "g.135289238C>T" "" "" "" "FHL1(NM_001159704.1):c.220C>T (p.P74S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207079C>T" "" "likely benign" "" "0000280794" "0" "30" "X" "135290060" "135290060" "subst" "0.00165061" "02325" "FHL1_000041" "g.135290060C>T" "" "" "" "FHL1(NM_001159702.2):c.441C>T (p.D147=), FHL1(NM_001159704.1):c.441C>T (p.D147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207901C>T" "" "likely benign" "" "0000280795" "0" "30" "X" "135292012" "135292016" "dup" "0" "02325" "FHL1_000050" "g.135292012_135292016dup" "" "" "" "FHL1(NM_001159704.1):c.689-13delTinsCTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209853_136209857dup" "" "likely benign" "" "0000280796" "0" "10" "X" "135292022" "135292022" "subst" "0.517316" "02325" "FHL1_000055" "g.135292022C>T" "" "" "" "FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209863C>T" "" "benign" "" "0000280797" "0" "50" "X" "135292109" "135292109" "subst" "5.59268E-6" "02325" "FHL1_000057" "g.135292109C>T" "" "" "" "FHL1(NM_001159702.2):c.968C>T (p.P323L), FHL1(NM_001159702.3):c.968C>T (p.P323L), FHL1(NM_001369326.1):c.968C>T (p.P323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209950C>T" "" "VUS" "" "0000283942" "0" "10" "X" "135290060" "135290060" "subst" "0.00165061" "02326" "FHL1_000041" "g.135290060C>T" "" "" "" "FHL1(NM_001159702.2):c.441C>T (p.D147=), FHL1(NM_001159704.1):c.441C>T (p.D147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207901C>T" "" "benign" "" "0000283943" "0" "30" "X" "135292019" "135292022" "del" "0" "02326" "FHL1_000053" "g.135292019_135292022del" "" "" "" "FHL1(NM_001159704.1):c.689-11_689-8delTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209860_136209863del" "" "likely benign" "" "0000283944" "0" "10" "X" "135292017" "135292017" "subst" "0" "02326" "FHL1_000051" "g.135292017T>C" "" "" "" "FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209858T>C" "" "benign" "" "0000283945" "0" "30" "X" "135292012" "135292012" "del" "0" "02326" "FHL1_000048" "g.135292012del" "" "" "" "FHL1(NM_001159704.1):c.689-18delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209853del" "" "likely benign" "" "0000283946" "0" "10" "X" "135292022" "135292022" "subst" "0.517316" "02326" "FHL1_000055" "g.135292022C>T" "" "" "" "FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209863C>T" "" "benign" "" "0000283947" "0" "30" "X" "135292027" "135292027" "del" "0" "02326" "FHL1_000056" "g.135292027del" "" "" "" "FHL1(NM_001159702.2):c.889-3delC, FHL1(NM_001159704.1):c.689-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209868del" "" "likely benign" "" "0000283948" "0" "10" "X" "135292164" "135292164" "subst" "0.0110395" "02326" "FHL1_000002" "g.135292164G>A" "" "" "" "FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136210005G>A" "" "benign" "" "0000287505" "0" "30" "X" "135288561" "135288561" "subst" "0.00166789" "01943" "FHL1_000033" "g.135288561C>T" "" "" "" "FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206402C>T" "" "likely benign" "" "0000287506" "0" "90" "X" "135292149" "135292149" "subst" "0" "01943" "FHL1_000058" "g.135292149C>T" "" "" "" "FHL1(NM_001159699.1):c.856C>T (p.(Gln286*)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209990C>T" "" "pathogenic" "" "0000287507" "0" "10" "X" "135288752" "135288752" "subst" "0.00143812" "01943" "FHL1_000037" "g.135288752C>T" "" "" "" "FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206593C>T" "" "benign" "" "0000287508" "0" "30" "X" "135278980" "135278980" "subst" "0" "01943" "FHL1_000032" "g.135278980T>C" "" "" "" "FHL1(NM_001159701.1):c.19T>C (p.S7P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136196821T>C" "" "likely benign" "" "0000287509" "0" "30" "X" "135290060" "135290060" "subst" "0.00165061" "01943" "FHL1_000041" "g.135290060C>T" "" "" "" "FHL1(NM_001159702.2):c.441C>T (p.D147=), FHL1(NM_001159704.1):c.441C>T (p.D147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207901C>T" "" "likely benign" "" "0000287510" "0" "50" "X" "135290675" "135290675" "subst" "0" "01943" "FHL1_000043" "g.135290675G>T" "" "" "" "FHL1(NM_001159702.2):c.563G>T (p.C188F), FHL1(NM_001159704.1):c.563G>T (p.C188F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136208516G>T" "" "VUS" "" "0000287511" "0" "10" "X" "135292017" "135292017" "subst" "0" "01943" "FHL1_000051" "g.135292017T>C" "" "" "" "FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209858T>C" "" "benign" "" "0000287512" "0" "10" "X" "135292022" "135292022" "subst" "0.517316" "01943" "FHL1_000055" "g.135292022C>T" "" "" "" "FHL1(NM_001159702.2):c.889-8C>T, FHL1(NM_001159704.1):c.689-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209863C>T" "" "benign" "" "0000287513" "0" "10" "X" "135292164" "135292164" "subst" "0.0110395" "01943" "FHL1_000002" "g.135292164G>A" "" "" "" "FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136210005G>A" "" "benign" "" "0000287514" "0" "10" "X" "135292021" "135292021" "del" "0" "01943" "FHL1_000054" "g.135292021del" "" "" "" "FHL1(NM_001159702.2):c.889-9delT, FHL1(NM_001159704.1):c.689-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209862del" "" "benign" "" "0000335637" "0" "50" "X" "135288561" "135288561" "subst" "0.00166789" "01804" "FHL1_000033" "g.135288561C>T" "" "" "" "FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136206402C>T" "" "VUS" "" "0000335639" "0" "30" "X" "135292017" "135292017" "subst" "0" "01804" "FHL1_000051" "g.135292017T>C" "" "" "" "FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136209858T>C" "" "likely benign" "" "0000343251" "0" "50" "X" "135289217" "135289217" "subst" "2.24195E-5" "02327" "FHL1_000039" "g.135289217C>T" "" "" "" "FHL1(NM_001449.5):c.199C>T (p.R67C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207058C>T" "" "VUS" "" "0000350898" "0" "50" "X" "135290107" "135290107" "subst" "0" "02327" "FHL1_000060" "g.135290107T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136207948T>G" "" "VUS" "" "0000436086" "1" "30" "X" "135290060" "135290060" "subst" "0.00165061" "00006" "FHL1_000001" "g.135290060C>T" "" "{PMID:Tarpey 2009:19377476}" "" "p.D147D" "recurrent, found 2 times; only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "Germline" "" "" "0" "" "" "g.136207901C>T" "" "likely benign" "" "0000436087" "1" "50" "X" "135292164" "135292164" "subst" "0.0110395" "00006" "FHL1_000002" "g.135292164G>A" "" "{PMID:Tarpey 2009:19377476}" "" "823G>A (D275N)" "found once; only summary data are given, for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "Germline" "" "" "0" "" "" "g.136210005G>A" "" "VUS" "" "0000436088" "21" "90" "X" "135290737" "135290737" "subst" "0" "00006" "FHL1_000003" "g.135290737T>C" "" "{PMID:Gueneau 2009:19716112}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.136208578T>C" "" "pathogenic" "" "0000436089" "21" "90" "X" "135292158" "135292158" "dup" "0" "00006" "FHL1_000004" "g.135292158dup" "" "{PMID:Gueneau 2009:19716112}" "" "817dup (Cys273LeufsX11)" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.136209999dup" "" "pathogenic" "" "0000436090" "21" "90" "X" "135289951" "135290800" "del" "0" "00006" "FHL1_000005" "g.135289951_135290800del" "" "{PMID:Gueneau 2009:19716112}" "" "" "1.44Kb deletion; linkage to Xq26.3; not in 200 control chromosomes\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000436091" "21" "90" "X" "135290088" "135290089" "del" "0" "00006" "FHL1_000006" "g.135290088_135290089del" "" "{PMID:Gueneau 2009:19716112}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.136207929_136207930del" "" "pathogenic" "" "0000436092" "21" "90" "X" "135292182" "135292182" "subst" "0" "00006" "FHL1_000007" "g.135292182T>G" "" "{PMID:Gueneau 2009:19716112}" "" "841T>G (X281Glu)" "linkage to Xq26.3; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.136210023T>G" "" "pathogenic" "" "0000436093" "21" "90" "X" "135289990" "135289991" "del" "0" "00006" "FHL1_000008" "g.135289990_135289991del" "" "{PMID:Gueneau 2009:19716112}" "" "371_372delAA" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.136207831_136207832del" "" "pathogenic" "" "0000436094" "21" "90" "X" "135292168" "135292168" "subst" "0" "00006" "FHL1_000009" "g.135292168G>A" "" "{PMID:Gueneau 2009:19716112}" "" "827G>A Cys276Tyr)" "linkage to Xq26.3; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.136210009G>A" "" "pathogenic" "" "0000436095" "21" "90" "X" "135289984" "135289984" "subst" "0" "00006" "FHL1_000010" "g.135289984G>C" "" "{PMID:Quinzii 2008:18179901}, {OMIM300163:0001}" "" "" "linkage to Xq26.3; not in 235 control chromosomes" "Germline" "" "" "0" "" "" "g.136207825G>C" "" "pathogenic" "" "0000436096" "21" "90" "X" "135289984" "135289984" "subst" "0" "00006" "FHL1_000010" "g.135289984G>C" "" "{PMID:Quinzii 2008:18179901}, {OMIM300163:0001}" "" "" "linkage to Xq26.3; not in 235 control chromosomes" "Germline" "" "" "0" "" "" "g.136207825G>C" "" "pathogenic" "" "0000436097" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436098" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436099" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436100" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436101" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436102" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436103" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436104" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436105" "21" "90" "X" "135290784" "135290784" "subst" "0" "00006" "FHL1_000011" "g.135290784C>G" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0002}" "" "" "linkage to Xq26.3; not in 402 control European and 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000436106" "21" "90" "X" "135289999" "135290001" "dup" "0" "00006" "FHL1_000012" "g.135289999_135290001dup" "" "{PMID:Windpassinger 2008:18179888}, {OMIM300163:0003}" "" "381_382insATC" "not in 570 Australian chromosomes" "Germline" "" "" "0" "" "" "g.136207840_136207842dup" "" "pathogenic" "" "0000436107" "1" "90" "X" "135289986" "135289986" "subst" "0" "00006" "FHL1_000013" "g.135289986C>T" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0004}" "" "" "skewed X-inactivation normal allele (72%)" "De novo" "" "" "0" "" "" "g.136207827C>T" "" "pathogenic" "" "0000436108" "1" "90" "X" "135290014" "135290014" "subst" "0" "00006" "FHL1_000014" "g.135290014G>T" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0005}" "" "" "skewed X-inactivation normal allele (78%)" "De novo" "" "" "0" "" "" "g.136207855G>T" "" "pathogenic" "" "0000436109" "1" "90" "X" "135290076" "135290076" "subst" "0" "00006" "FHL1_000015" "g.135290076T>C" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0006}" "" "" "no skewed X-inactivation" "De novo" "" "" "0" "" "" "g.136207917T>C" "" "pathogenic" "" "0000436110" "21" "90" "X" "135290076" "135290076" "subst" "0" "00006" "FHL1_000015" "g.135290076T>C" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0006}" "" "" "" "Germline" "" "" "0" "" "" "g.136207917T>C" "" "pathogenic" "" "0000436111" "1" "90" "X" "135290077" "135290077" "subst" "0" "00006" "FHL1_000016" "g.135290077G>A" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0007}" "" "" "no skewed X-inactivation" "Germline" "" "" "0" "" "" "g.136207918G>A" "" "pathogenic" "" "0000436112" "21" "90" "X" "135290077" "135290077" "subst" "0" "00006" "FHL1_000016" "g.135290077G>A" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0007}" "" "" "" "Germline" "" "" "0" "" "" "g.136207918G>A" "" "pathogenic" "" "0000436113" "1" "90" "X" "135290068" "135290068" "subst" "0" "00006" "FHL1_000017" "g.135290068G>A" "" "{PMID:Shalaby 2009:19171836}, {OMIM300163:0008}" "" "" "not in >250 control chromosomes" "Germline" "" "" "0" "" "" "g.136207909G>A" "" "pathogenic" "" "0000436114" "21" "90" "X" "135289328" "135289328" "subst" "0" "00006" "FHL1_000018" "g.135289328T>C" "" "{PMID:Shalaby 2009:19171836}, {OMIM300163:0009}" "" "" "not in >250 control chromosomes" "Germline" "" "" "0" "" "" "g.136207169T>C" "" "pathogenic" "" "0000436115" "1" "90" "X" "135289328" "135289328" "subst" "0" "00006" "FHL1_000018" "g.135289328T>C" "" "{PMID:Shalaby 2009:19171836}, {OMIM300163:0009}" "" "" "not in >250 control chromosomes" "Germline" "" "" "0" "" "" "g.136207169T>C" "" "pathogenic" "" "0000436116" "1" "90" "X" "135289320" "135289320" "subst" "0" "00006" "FHL1_000019" "g.135289320G>T" "" "{PMID:Shalaby 2009:19171836}" "" "" "not in >250 control chromosomes" "Germline" "" "" "0" "" "" "g.136207161G>T" "" "pathogenic" "" "0000436117" "1" "90" "X" "135289322" "135289330" "del" "0" "00006" "FHL1_000020" "g.135289322_135289330del" "" "{PMID:Shalaby 2009:19171836}" "" "" "not in >250 control chromosomes" "Germline" "" "" "0" "" "" "g.136207163_136207171del" "" "pathogenic" "" "0000436118" "21" "90" "X" "0" "0" "delins" "0" "00006" "FHL1_000022" "g.?" "" "{PMID:Tiffin 2013:23456229}" "" "NM_001449.4:831-20_1017+395del602ins84" "mRNA no FHL1A, FHL1B reduced, FHL1C raised 20x" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000436119" "1" "70" "X" "135290080" "135290080" "subst" "0" "01715" "FHL1_000023" "g.135290080A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136207921A>C" "" "likely pathogenic" "" "0000436120" "21" "90" "X" "135290612" "135290612" "subst" "0" "00006" "FHL1_000021" "g.135290612A>T" "" "{PMID:Pen 2013:25724586}" "" "" "mRNA isoforms A and B lost, FHL1C 200x higher expressed" "Germline" "" "" "0" "" "" "g.136208453A>T" "" "pathogenic" "" "0000436121" "0" "90" "X" "135289986" "135289986" "subst" "0" "00006" "FHL1_000013" "g.135289986C>T" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0004}" "" "" "expression cloning COS-7 and C2C12 cells gives dense large inclusions (mostly adjacent to nucleus)" "In vitro (cloned)" "" "" "0" "" "" "g.136207827C>T" "" "NA" "" "0000436122" "0" "90" "X" "135290014" "135290014" "subst" "0" "00006" "FHL1_000014" "g.135290014G>T" "" "{PMID:Schessl 2008:18274675}, {OMIM300163:0005}" "" "" "expression cloning COS-7 and C2C12 cells gives dense large inclusions (mostly adjacent to nucleus)" "In vitro (cloned)" "" "" "0" "" "" "g.136207855G>T" "" "NA" "" "0000463729" "1" "50" "X" "135290065" "135290067" "del" "0" "00430" "FHL1_000071" "g.135290065_135290067del" "" "{PMID:Nallamilli 2018:30564623}" "" "446_448delACT" "no second variant" "Germline" "" "" "0" "" "" "g.136207906_136207908del" "" "VUS" "" "0000463730" "20" "50" "X" "135289975" "135289975" "subst" "0" "00430" "FHL1_000067" "g.135289975G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136207816G>T" "" "VUS" "" "0000463731" "1" "50" "X" "135291480" "135291481" "delins" "0" "00430" "FHL1_000076" "g.135291480_135291481delinsTC" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136209321_136209322delinsTC" "" "VUS" "" "0000463732" "1" "50" "X" "135290708" "135290708" "subst" "0" "00430" "FHL1_000073" "g.135290708G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136208549G>A" "" "VUS" "" "0000463733" "1" "50" "X" "135289980" "135289980" "subst" "5.03482E-5" "00430" "FHL1_000068" "g.135289980G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.136207821G>A" "" "VUS" "" "0000463734" "1" "50" "X" "135289980" "135289980" "subst" "5.03482E-5" "00430" "FHL1_000068" "g.135289980G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.136207821G>A" "" "VUS" "" "0000463735" "1" "50" "X" "135289272" "135289272" "subst" "5.60947E-6" "00430" "FHL1_000065" "g.135289272A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.136207113A>G" "" "VUS" "" "0000463736" "20" "50" "X" "135290105" "135290105" "subst" "0" "00430" "FHL1_000072" "g.135290105C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136207946C>G" "" "VUS" "" "0000463737" "20" "90" "X" "135290784" "135290784" "subst" "0" "00430" "FHL1_000011" "g.135290784C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136208625C>G" "" "pathogenic" "" "0000463738" "1" "50" "X" "135290065" "135290067" "del" "0" "00430" "FHL1_000071" "g.135290065_135290067del" "" "{PMID:Nallamilli 2018:30564623}" "" "446_448delACT" "" "Germline" "" "" "0" "" "" "g.136207906_136207908del" "" "VUS" "" "0000463739" "20" "50" "X" "135288596" "135288596" "subst" "2.23799E-5" "00430" "FHL1_000063" "g.135288596C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.136206437C>T" "" "VUS" "" "0000463740" "20" "50" "X" "135289985" "135289985" "subst" "0" "00430" "FHL1_000069" "g.135289985G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.136207826G>C" "" "VUS" "" "0000463741" "1" "50" "X" "135291473" "135291473" "subst" "6.7334E-5" "00430" "FHL1_000075" "g.135291473C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136209314C>T" "" "VUS" "" "0000463742" "20" "90" "X" "135229559" "135293518" "del" "0" "00430" "FHL1_000062" "g.(?_135229559)_(135293518_?)del" "" "{PMID:Nallamilli 2018:30564623}" "" "del gene" "no sequence FHL gene" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000463743" "20" "50" "X" "135288596" "135288596" "subst" "2.23799E-5" "00430" "FHL1_000063" "g.135288596C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136206437C>T" "" "VUS" "" "0000463744" "1" "50" "X" "135289326" "135289326" "subst" "0" "00430" "FHL1_000066" "g.135289326G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.136207167G>T" "" "VUS" "" "0000463745" "1" "50" "X" "135289993" "135289993" "subst" "0" "00430" "FHL1_000070" "g.135289993A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.136207834A>G" "" "VUS" "" "0000463746" "1" "50" "X" "135291410" "135291410" "subst" "0" "00430" "FHL1_000074" "g.135291410A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136209251A>G" "" "VUS" "" "0000463747" "1" "50" "X" "135288704" "135288704" "subst" "5.59337E-6" "00430" "FHL1_000036" "g.135288704A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136206545A>G" "" "VUS" "" "0000463748" "1" "50" "X" "135288596" "135288596" "subst" "2.23799E-5" "00430" "FHL1_000063" "g.135288596C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136206437C>T" "" "VUS" "" "0000463749" "20" "90" "X" "135289231" "135289231" "subst" "0" "00430" "FHL1_000064" "g.135289231C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.136207072C>A" "" "pathogenic" "" "0000573702" "0" "50" "X" "135279022" "135279022" "subst" "5.51405E-5" "01943" "FHL1_000078" "g.135279022G>T" "" "" "" "FHL1(NM_001159701.1):c.61G>T (p.G21C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136196863G>T" "" "VUS" "" "0000573703" "0" "30" "X" "135288752" "135288752" "subst" "0.00143812" "01804" "FHL1_000037" "g.135288752C>T" "" "" "" "FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136206593C>T" "" "likely benign" "" "0000573704" "0" "30" "X" "135289213" "135289213" "subst" "4.4837E-5" "02327" "FHL1_000079" "g.135289213C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136207054C>T" "" "likely benign" "" "0000573705" "0" "50" "X" "135289353" "135289353" "subst" "0" "01943" "FHL1_000080" "g.135289353C>T" "" "" "" "FHL1(NM_001159702.2):c.331+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136207194C>T" "" "VUS" "" "0000573706" "0" "50" "X" "135290716" "135290716" "subst" "0" "02330" "FHL1_000081" "g.135290716G>T" "" "" "" "FHL1(NM_001159704.1):c.604G>T (p.A202S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136208557G>T" "" "VUS" "" "0000573707" "0" "30" "X" "135290733" "135290733" "subst" "0" "02327" "FHL1_000082" "g.135290733T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136208574T>C" "" "likely benign" "" "0000573708" "0" "50" "X" "135291573" "135291573" "dup" "0" "02325" "FHL1_000083" "g.135291573dup" "" "" "" "FHL1(NM_001159702.3):c.860dupA (p.N287Kfs*62)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209414dup" "" "VUS" "" "0000573709" "0" "10" "X" "135292012" "135292012" "del" "0" "02330" "FHL1_000048" "g.135292012del" "" "" "" "FHL1(NM_001159704.1):c.689-18delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209853del" "" "benign" "" "0000573710" "0" "30" "X" "135292018" "135292022" "del" "0" "02325" "FHL1_000052" "g.135292018_135292022del" "" "" "" "FHL1(NM_001159704.1):c.689-12_689-8delTTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209859_136209863del" "" "likely benign" "" "0000573711" "0" "10" "X" "135292019" "135292022" "del" "0" "02330" "FHL1_000053" "g.135292019_135292022del" "" "" "" "FHL1(NM_001159704.1):c.689-11_689-8delTTTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209860_136209863del" "" "benign" "" "0000573713" "0" "10" "X" "135292021" "135292021" "dup" "0" "02330" "FHL1_000084" "g.135292021dup" "" "" "" "FHL1(NM_001159699.1):c.737-9dup (p.(=)), FHL1(NM_001159704.1):c.689-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209862dup" "" "benign" "" "0000573714" "0" "10" "X" "135292027" "135292027" "del" "0" "01943" "FHL1_000056" "g.135292027del" "" "" "" "FHL1(NM_001159702.2):c.889-3delC, FHL1(NM_001159704.1):c.689-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209868del" "" "benign" "" "0000573715" "0" "10" "X" "135292027" "135292027" "del" "0" "02327" "FHL1_000056" "g.135292027del" "" "" "" "FHL1(NM_001159702.2):c.889-3delC, FHL1(NM_001159704.1):c.689-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209868del" "" "benign" "" "0000573716" "0" "30" "X" "135292079" "135292079" "subst" "0.000195799" "02330" "FHL1_000086" "g.135292079C>T" "" "" "" "FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209920C>T" "" "likely benign" "" "0000573717" "0" "30" "X" "135292079" "135292079" "subst" "0.000195799" "01943" "FHL1_000086" "g.135292079C>T" "" "" "" "FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209920C>T" "" "likely benign" "" "0000573718" "0" "30" "X" "135292079" "135292079" "subst" "0.000195799" "02327" "FHL1_000086" "g.135292079C>T" "" "" "" "FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209920C>T" "" "likely benign" "" "0000573719" "0" "30" "X" "135292079" "135292079" "subst" "0.000195799" "02325" "FHL1_000086" "g.135292079C>T" "" "" "" "FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209920C>T" "" "likely benign" "" "0000573720" "0" "30" "X" "135292079" "135292079" "subst" "0.000195799" "02326" "FHL1_000086" "g.135292079C>T" "" "" "" "FHL1(NM_001159702.2):c.938C>T (p.T313M), FHL1(NM_001159702.3):c.938C>T (p.T313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209920C>T" "" "likely benign" "" "0000573721" "0" "50" "X" "135292085" "135292085" "subst" "3.35608E-5" "02330" "FHL1_000087" "g.135292085C>T" "" "" "" "FHL1(NM_001159702.3):c.944C>T (p.T315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209926C>T" "" "VUS" "" "0000573722" "0" "50" "X" "135292085" "135292085" "subst" "3.35608E-5" "02326" "FHL1_000087" "g.135292085C>T" "" "" "" "FHL1(NM_001159702.3):c.944C>T (p.T315I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209926C>T" "" "VUS" "" "0000573724" "0" "30" "X" "135292109" "135292109" "subst" "5.59268E-6" "02327" "FHL1_000057" "g.135292109C>T" "" "" "" "FHL1(NM_001159702.2):c.968C>T (p.P323L), FHL1(NM_001159702.3):c.968C>T (p.P323L), FHL1(NM_001369326.1):c.968C>T (p.P323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209950C>T" "" "likely benign" "" "0000573725" "0" "30" "X" "135292110" "135292110" "subst" "4.47417E-5" "02326" "FHL1_000088" "g.135292110G>C" "" "" "" "FHL1(NM_001159704.1):c.769G>C (p.V257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209951G>C" "" "likely benign" "" "0000573726" "0" "50" "X" "135292149" "135292149" "subst" "0" "02330" "FHL1_000058" "g.135292149C>T" "" "" "" "FHL1(NM_001159699.1):c.856C>T (p.(Gln286*)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209990C>T" "" "VUS" "" "0000573727" "0" "50" "X" "135292149" "135292149" "subst" "0" "01804" "FHL1_000058" "g.135292149C>T" "" "" "" "FHL1(NM_001159699.1):c.856C>T (p.(Gln286*)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209990C>T" "" "VUS" "" "0000573728" "0" "30" "X" "135292164" "135292164" "subst" "0.0110395" "01804" "FHL1_000002" "g.135292164G>A" "" "" "" "FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136210005G>A" "" "likely benign" "" "0000573729" "0" "30" "X" "135292164" "135292164" "subst" "0.0110395" "02327" "FHL1_000002" "g.135292164G>A" "" "" "" "FHL1(NM_001159699.1):c.871G>A (p.(Asp291Asn)), FHL1(NM_001159702.2):c.*51G>A, FHL1(NM_001159704.1):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136210005G>A" "" "likely benign" "" "0000619020" "0" "50" "X" "135288710" "135288710" "subst" "0" "02327" "FHL1_000089" "g.135288710G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136206551G>A" "" "VUS" "" "0000619021" "0" "10" "X" "135288752" "135288752" "subst" "0.00143812" "02327" "FHL1_000037" "g.135288752C>T" "" "" "" "FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136206593C>T" "" "benign" "" "0000619022" "0" "10" "X" "135290060" "135290060" "subst" "0.00165061" "02327" "FHL1_000001" "g.135290060C>T" "" "" "" "FHL1(NM_001159702.2):c.441C>T (p.D147=), FHL1(NM_001159704.1):c.441C>T (p.D147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136207901C>T" "" "benign" "" "0000619023" "0" "50" "X" "135290675" "135290675" "subst" "0" "02325" "FHL1_000043" "g.135290675G>T" "" "" "" "FHL1(NM_001159702.2):c.563G>T (p.C188F), FHL1(NM_001159704.1):c.563G>T (p.C188F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136208516G>T" "" "VUS" "" "0000619024" "0" "10" "X" "135292017" "135292017" "subst" "0" "02327" "FHL1_000051" "g.135292017T>C" "" "" "" "FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209858T>C" "" "benign" "" "0000619025" "0" "50" "X" "135292109" "135292109" "subst" "5.59268E-6" "01943" "FHL1_000057" "g.135292109C>T" "" "" "" "FHL1(NM_001159702.2):c.968C>T (p.P323L), FHL1(NM_001159702.3):c.968C>T (p.P323L), FHL1(NM_001369326.1):c.968C>T (p.P323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209950C>T" "" "VUS" "" "0000619026" "0" "50" "X" "135292110" "135292110" "subst" "4.47417E-5" "02330" "FHL1_000088" "g.135292110G>C" "" "" "" "FHL1(NM_001159704.1):c.769G>C (p.V257L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136209951G>C" "" "VUS" "" "0000646954" "0" "90" "X" "135290077" "135290077" "subst" "0" "00006" "FHL1_000016" "g.135290077G>A" "" "{PMID:Evilä 2016:26627873}" "" "" "" "Germline" "" "" "0" "" "" "g.136207918G>A" "" "pathogenic (dominant)" "" "0000653188" "1" "30" "X" "135292079" "135292079" "subst" "0.000195799" "03575" "FHL1_000086" "g.135292079C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs141231353}" "Germline" "" "rs141231353" "0" "" "" "g.136209920C>T" "" "likely benign" "" "0000659098" "0" "10" "X" "135290105" "135290105" "subst" "5.60139E-6" "02330" "FHL1_000090" "g.135290105C>T" "" "" "" "FHL1(NM_001159704.1):c.486C>T (p.C162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136207946C>T" "" "benign" "" "0000667515" "21" "90" "X" "135292140" "135292140" "del" "0" "00006" "FHL1_000091" "g.135292140del" "" "{PMID:Helbig 2016:26795593}" "" "NM_001449:799delC (H267Tfs*23)" "" "Germline" "" "" "0" "" "" "g.136209981del" "" "pathogenic (recessive)" "ACMG" "0000693369" "0" "10" "X" "135278951" "135278951" "subst" "1.92803E-5" "02330" "FHL1_000092" "g.135278951C>G" "" "" "" "FHL1(NM_001159701.2):c.-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000697553" "0" "70" "X" "135290658" "135290658" "subst" "0" "00006" "FHL1_000031" "g.135290658T>A" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.136208499T>A" "" "likely pathogenic" "" "0000697554" "0" "70" "X" "135290783" "135290783" "subst" "0" "00006" "FHL1_000030" "g.135290783G>C" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.136208624G>C" "" "likely pathogenic" "" "0000697798" "1" "90" "X" "135291815" "135293768" "del" "0" "00006" "FHL1_000093" "g.(?_135291815)_(135293768_?)del" "1/1001 cases" "{PMID:Topf 2020:32528171}" "" "chrX:135291815-135293768" "2 kb deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000700013" "0" "50" "X" "135288704" "135288704" "subst" "5.59337E-6" "00006" "FHL1_000036" "g.135288704A>G" "4/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136206545A>G" "" "VUS" "" "0000700014" "0" "50" "X" "135288733" "135288733" "subst" "0" "00006" "FHL1_000094" "g.135288733G>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136206574G>A" "" "VUS" "" "0000700015" "0" "50" "X" "135289229" "135289229" "subst" "0" "00006" "FHL1_000095" "g.135289229T>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136207070T>A" "" "VUS" "" "0000700016" "0" "50" "X" "135289239" "135289239" "subst" "5.60491E-6" "00006" "FHL1_000096" "g.135289239C>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136207080C>G" "" "VUS" "" "0000700017" "0" "50" "X" "135289298" "135289298" "subst" "0" "00006" "FHL1_000097" "g.135289298A>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136207139A>G" "" "VUS" "" "0000700018" "0" "90" "X" "135289349" "135289349" "subst" "0" "00006" "FHL1_000098" "g.135289349G>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136207190G>T" "" "pathogenic" "" "0000700019" "0" "50" "X" "135289962" "135289962" "subst" "1.11883E-5" "00006" "FHL1_000099" "g.135289962G>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136207803G>T" "" "VUS" "" "0000700020" "0" "50" "X" "135290014" "135290014" "subst" "0" "00006" "FHL1_000014" "g.135290014G>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136207855G>T" "" "VUS" "" "0000700021" "0" "50" "X" "135290635" "135290635" "subst" "0" "00006" "FHL1_000100" "g.135290635A>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136208476A>C" "" "VUS" "" "0000700022" "0" "50" "X" "135290668" "135290668" "subst" "5.59322E-6" "00006" "FHL1_000101" "g.135290668T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136208509T>C" "" "VUS" "" "0000700023" "0" "50" "X" "135290773" "135290773" "subst" "5.59359E-6" "00006" "FHL1_000102" "g.135290773T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.136208614T>C" "" "VUS" "" "0000728452" "0" "50" "X" "135278986" "135278986" "subst" "0" "02329" "FHL1_000077" "g.135278986G>C" "" "" "" "FHL1(NM_001159701.2):c.25G>C (p.A9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728453" "0" "50" "X" "135291446" "135291446" "subst" "0" "02327" "FHL1_000103" "g.135291446A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728454" "0" "50" "X" "135291500" "135291500" "subst" "5.60906E-6" "01943" "FHL1_000104" "g.135291500G>A" "" "" "" "FHL1(NM_001159702.2):c.787G>A (p.A263T), FHL1(NM_001369326.1):c.787G>A (p.A263T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763686" "0" "50" "X" "135290615" "135290615" "subst" "0" "04047" "FHL1_000105" "g.135290615C>T" "" "{PMID:Saat 2021:33963534}" "" "551C>T (Ala184Val)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000809927" "0" "90" "X" "135289179" "135289179" "dup" "0" "02325" "FHL1_000106" "g.135289179dup" "" "" "" "FHL1(NM_001449.5):c.161dupT (p.H55Afs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000809928" "0" "50" "X" "135289217" "135289217" "subst" "2.24195E-5" "02325" "FHL1_000039" "g.135289217C>T" "" "" "" "FHL1(NM_001449.5):c.199C>T (p.R67C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809929" "0" "30" "X" "135292021" "135292021" "dup" "0" "01804" "FHL1_000084" "g.135292021dup" "" "" "" "FHL1(NM_001159699.1):c.737-9dup (p.(=)), FHL1(NM_001159704.1):c.689-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856360" "0" "50" "X" "135288656" "135288656" "subst" "5.5934E-6" "02330" "FHL1_000035" "g.135288656A>C" "" "" "" "FHL1(NM_001159704.1):c.65A>C (p.K22T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867062" "0" "30" "X" "135288764" "135288764" "subst" "1.11933E-5" "01804" "FHL1_000107" "g.135288764T>C" "" "" "" "FHL1(NM_001159699.1):c.204+17T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867063" "0" "50" "X" "135289301" "135289301" "subst" "0.000681744" "01943" "FHL1_000109" "g.135289301C>T" "" "" "" "FHL1(NM_001159702.2):c.283C>T (p.R95W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867064" "0" "30" "X" "135291618" "135291618" "subst" "1.13579E-5" "01804" "FHL1_000110" "g.135291618C>T" "" "" "" "FHL1(NM_001159702.2):c.888+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867065" "0" "10" "X" "135292145" "135292145" "subst" "5.59243E-6" "02330" "FHL1_000111" "g.135292145G>A" "" "" "" "FHL1(NM_001159704.1):c.804G>A (p.Q268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000878868" "0" "70" "X" "135290031" "135290031" "subst" "0" "04384" "FHL1_000112" "g.135290031A>C" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000895941" "0" "50" "X" "135278995" "135278995" "subst" "0" "02330" "FHL1_000113" "g.135278995C>G" "" "" "" "FHL1(NM_001159701.2):c.34C>G (p.L12V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895942" "0" "10" "X" "135279037" "135279037" "subst" "0" "02330" "FHL1_000114" "g.135279037C>T" "" "" "" "FHL1(NM_001159704.1):c.-26-9529C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895943" "0" "30" "X" "135288752" "135288752" "subst" "0.00143812" "02326" "FHL1_000037" "g.135288752C>T" "" "" "" "FHL1(NM_001159699.1):c.204+5C>T (p.?), FHL1(NM_001159704.1):c.156+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895944" "0" "30" "X" "135291466" "135291466" "subst" "0" "02330" "FHL1_000115" "g.135291466C>T" "" "" "" "FHL1(NM_001369326.1):c.753C>T (p.H251=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895945" "0" "50" "X" "135292090" "135292090" "subst" "0" "02330" "FHL1_000116" "g.135292090T>C" "" "" "" "FHL1(NM_001159704.1):c.749T>C (p.F250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915610" "0" "30" "X" "135289941" "135289941" "subst" "0" "02326" "FHL1_000117" "g.135289941C>A" "" "" "" "FHL1(NM_001159704.1):c.332-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915611" "0" "50" "X" "135291560" "135291560" "subst" "0" "02325" "FHL1_000118" "g.135291560C>G" "" "" "" "FHL1(NM_001449.5):c.689-470C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915612" "0" "10" "X" "135292017" "135292017" "subst" "0" "02325" "FHL1_000051" "g.135292017T>C" "" "" "" "FHL1(NM_001159699.1):c.737-13T>C (p.(=)), FHL1(NM_001159702.2):c.889-13T>C, FHL1(NM_001159704.1):c.689-13T>C, FHL1(NM_001159704.1):c.689-13_689-8de..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000917711" "0" "90" "X" "135289329" "135289329" "subst" "0" "00006" "FHL1_000119" "g.135289329G>A" "" "{PMID:Waddell 2011:21683594}" "" "" "" "Germline" "" "" "0" "" "" "g.136207170G>A" "" "pathogenic" "" "0000927265" "0" "10" "X" "135288561" "135288561" "subst" "0.00166789" "02326" "FHL1_000033" "g.135288561C>T" "" "" "" "FHL1(NM_001159699.1):c.23-5C>T (p.?), FHL1(NM_001159704.1):c.-26-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931340" "0" "70" "X" "135292149" "135292149" "subst" "0" "02326" "FHL1_000058" "g.135292149C>T" "" "" "" "FHL1(NM_001159699.1):c.856C>T (p.(Gln286*)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931341" "0" "70" "X" "135292149" "135292149" "subst" "0" "02327" "FHL1_000058" "g.135292149C>T" "" "" "" "FHL1(NM_001159699.1):c.856C>T (p.(Gln286*)), FHL1(NM_001159702.2):c.*36C>T, FHL1(NM_001159704.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951686" "0" "50" "X" "135290073" "135290073" "subst" "0" "02330" "FHL1_000120" "g.135290073A>T" "" "" "" "FHL1(NM_001159704.1):c.454A>T (p.T152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951687" "0" "50" "X" "135291532" "135291532" "subst" "0" "02326" "FHL1_000121" "g.135291532G>C" "" "" "" "FHL1(NM_001369326.1):c.819G>C (p.E273D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000959657" "21" "70" "X" "135290728" "135290728" "dup" "0" "01164" "FHL1_000122" "g.135290728dup" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.136208569dup" "" "likely pathogenic (recessive)" "ACMG" "0000970759" "0" "50" "X" "135279019" "135279019" "subst" "0" "02330" "FHL1_000123" "g.135279019G>C" "" "" "" "FHL1(NM_001159701.2):c.58G>C (p.A20P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006452" "0" "10" "X" "135290604" "135290604" "subst" "1.67879E-5" "02330" "FHL1_000124" "g.135290604C>T" "" "" "" "FHL1(NM_001159704.1):c.502-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006453" "0" "50" "X" "135291500" "135291500" "subst" "5.60906E-6" "02326" "FHL1_000104" "g.135291500G>A" "" "" "" "FHL1(NM_001159702.2):c.787G>A (p.A263T), FHL1(NM_001369326.1):c.787G>A (p.A263T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015986" "0" "50" "X" "135290792" "135290792" "subst" "3.91689E-5" "02330" "FHL1_000125" "g.135290792C>A" "" "" "" "FHL1(NM_001159704.1):c.680C>A (p.P227H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027439" "0" "50" "X" "135278978" "135278978" "subst" "0" "01804" "FHL1_000126" "g.135278978C>G" "" "" "" "FHL1(NM_001159701.1):c.17C>G (p.(Ala6Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027440" "0" "30" "X" "135292027" "135292027" "del" "0" "02330" "FHL1_000056" "g.135292027del" "" "" "" "FHL1(NM_001159702.2):c.889-3delC, FHL1(NM_001159704.1):c.689-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027441" "0" "50" "X" "135292109" "135292109" "subst" "5.59268E-6" "02330" "FHL1_000057" "g.135292109C>T" "" "" "" "FHL1(NM_001159702.2):c.968C>T (p.P323L), FHL1(NM_001159702.3):c.968C>T (p.P323L), FHL1(NM_001369326.1):c.968C>T (p.P323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes FHL1 ## Count = 202 "{{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}}" "0000002170" "00025249" "30" "-100" "-378" "-100" "-378" "c.-100-378dup" "r.(=)" "p.(=)" "1i" "0000002171" "00025249" "30" "-27" "97" "-27" "97" "c.-27+97del" "r.(=)" "p.(=)" "2i" "0000003257" "00025249" "30" "-100" "-378" "-100" "-378" "c.-100-378dup" "r.(=)" "p.(=)" "1i" "0000003258" "00025249" "30" "-27" "95" "-27" "95" "c.-27+95del" "r.(=)" "p.(=)" "2i" "0000007725" "00025249" "30" "501" "130" "501" "130" "c.501+130G>A" "r.(=)" "p.(=)" "5i" "0000009867" "00025249" "30" "-100" "-378" "-100" "-378" "c.-100-378dup" "r.(=)" "p.(=)" "1i" "0000009868" "00025249" "30" "-27" "97" "-27" "97" "c.-27+97del" "r.(=)" "p.(=)" "2i" "0000009869" "00025249" "30" "501" "130" "501" "130" "c.501+130G>A" "r.(=)" "p.(=)" "5i" "0000011235" "00025249" "30" "-100" "-378" "-100" "-378" "c.-100-378dup" "r.(=)" "p.(=)" "1i" "0000011236" "00025249" "30" "-27" "95" "-27" "95" "c.-27+95del" "r.(=)" "p.(=)" "2i" "0000234249" "00025249" "90" "671" "0" "671" "0" "c.671G>C" "r.(?)" "p.(Cys224Ser)" "5" "0000234250" "00025249" "90" "546" "0" "546" "0" "c.546T>A" "r.(?)" "p.(His182Gln)" "6" "0000247797" "00025249" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Asn38Ser)" "" "0000249599" "00025249" "70" "581" "0" "581" "0" "c.581del" "r.(?)" "p.(Lys194SerfsTer44)" "" "0000249758" "00025249" "50" "65" "0" "65" "0" "c.65A>C" "r.(?)" "p.(Lys22Thr)" "" "0000252708" "00025249" "50" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Lys253Glu)" "" "0000276720" "00025249" "10" "-26" "-5" "-26" "-5" "c.-26-5C>T" "r.spl?" "p.?" "" "0000276721" "00025249" "10" "156" "14" "156" "14" "c.156+14C>G" "r.(=)" "p.(=)" "" "0000276722" "00025249" "10" "156" "5" "156" "5" "c.156+5C>T" "r.spl?" "p.?" "" "0000276723" "00025249" "30" "22" "0" "25" "0" "c.22_25del" "r.(?)" "p.(His8ThrfsTer21)" "" "0000276724" "00025249" "10" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Asp147=)" "" "0000276725" "00025249" "10" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Cys150=)" "" "0000276726" "00025249" "10" "889" "-12" "889" "-8" "c.889-12_889-8del" "r.(=)" "p.(=)" "" "0000276727" "00025249" "10" "889" "-13" "889" "-13" "c.889-13T>C" "r.(=)" "p.(=)" "" "0000276729" "00025249" "10" "889" "-9" "889" "-9" "c.889-9del" "r.(=)" "p.(=)" "" "0000276731" "00025249" "10" "888" "18" "888" "18" "c.888+18G>A" "r.(=)" "p.(=)" "" "0000276732" "00025249" "10" "889" "-8" "889" "-8" "c.889-8C>T" "r.(=)" "p.(=)" "" "0000276733" "00025249" "10" "1023" "0" "1023" "0" "c.*51G>A" "r.(=)" "p.(=)" "" "0000280790" "00025249" "30" "-26" "-5" "-26" "-5" "c.-26-5C>T" "r.spl?" "p.?" "" "0000280791" "00025249" "30" "156" "14" "156" "14" "c.156+14C>G" "r.(=)" "p.(=)" "" "0000280792" "00025249" "10" "156" "5" "156" "5" "c.156+5C>T" "r.spl?" "p.?" "" "0000280793" "00025249" "30" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Pro74Ser)" "" "0000280794" "00025249" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Asp147=)" "" "0000280795" "00025249" "30" "889" "-18" "889" "-14" "c.889-18_889-14dup" "r.(=)" "p.(=)" "" "0000280796" "00025249" "10" "889" "-8" "889" "-8" "c.889-8C>T" "r.(=)" "p.(=)" "" "0000280797" "00025249" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" "" "0000283942" "00025249" "10" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Asp147=)" "" "0000283943" "00025249" "30" "889" "-11" "889" "-8" "c.889-11_889-8del" "r.(=)" "p.(=)" "" "0000283944" "00025249" "10" "889" "-13" "889" "-13" "c.889-13T>C" "r.(=)" "p.(=)" "" "0000283945" "00025249" "30" "889" "-18" "889" "-18" "c.889-18del" "r.(=)" "p.(=)" "" "0000283946" "00025249" "10" "889" "-8" "889" "-8" "c.889-8C>T" "r.(=)" "p.(=)" "" "0000283947" "00025249" "30" "889" "-3" "889" "-3" "c.889-3del" "r.spl?" "p.?" "" "0000283948" "00025249" "10" "1023" "0" "1023" "0" "c.*51G>A" "r.(=)" "p.(=)" "" "0000287505" "00025249" "30" "-26" "-5" "-26" "-5" "c.-26-5C>T" "r.spl?" "p.?" "" "0000287506" "00025249" "90" "1008" "0" "1008" "0" "c.*36C>T" "r.(=)" "p.(=)" "" "0000287507" "00025249" "10" "156" "5" "156" "5" "c.156+5C>T" "r.spl?" "p.?" "" "0000287508" "00025249" "30" "-26" "-9586" "-26" "-9586" "c.-26-9586T>C" "r.(=)" "p.(=)" "" "0000287509" "00025249" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Asp147=)" "" "0000287510" "00025249" "50" "563" "0" "563" "0" "c.563G>T" "r.(?)" "p.(Cys188Phe)" "" "0000287511" "00025249" "10" "889" "-13" "889" "-13" "c.889-13T>C" "r.(=)" "p.(=)" "" "0000287512" "00025249" "10" "889" "-8" "889" "-8" "c.889-8C>T" "r.(=)" "p.(=)" "" "0000287513" "00025249" "10" "1023" "0" "1023" "0" "c.*51G>A" "r.(=)" "p.(=)" "" "0000287514" "00025249" "10" "889" "-9" "889" "-9" "c.889-9del" "r.(=)" "p.(=)" "" "0000335637" "00025249" "50" "-26" "-5" "-26" "-5" "c.-26-5C>T" "r.spl?" "p.?" "" "0000335639" "00025249" "30" "889" "-13" "889" "-13" "c.889-13T>C" "r.(=)" "p.(=)" "" "0000343251" "00025249" "50" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Cys)" "" "0000350898" "00025249" "50" "488" "0" "488" "0" "c.488T>G" "r.(?)" "p.(Val163Gly)" "" "0000436086" "00025249" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(=)" "5" "0000436087" "00025249" "50" "1023" "0" "1023" "0" "c.*51G>A" "r.(?)" "p.(Asp230+48Asn)" "8" "0000436088" "00025249" "90" "625" "0" "625" "0" "c.625T>C" "r.(?)" "p.(Cys209Arg)" "6" "0000436089" "00025249" "90" "1017" "0" "1017" "0" "c.*45dup" "r.(?)" "p.(Cys230+43Leufs*11)" "8" "0000436090" "00025249" "90" "332" "-1" "688" "1" "c.332-?_688+?del" "r.(ex05ex06del)" "p.(del?)" "4i_6i" "0000436091" "00025249" "90" "469" "0" "470" "0" "c.469_470del" "r.(?)" "p.(Lys157Valfs*36)" "5" "0000436092" "00025249" "90" "1041" "0" "1041" "0" "c.*69T>G" "r.(?)" "p.(*230+50Gluext*53)" "8" "0000436093" "00025249" "90" "371" "0" "372" "0" "c.371_372del" "r.(?)" "p.(Lys124Argfs*6)" "5" "0000436094" "00025249" "90" "1027" "0" "1027" "0" "c.*55G>A" "r.(?)" "p.(Cys230+48Tyr)" "8" "0000436095" "00025249" "90" "365" "0" "365" "0" "c.365G>C" "r.(?)" "p.(Trp122Ser)" "5" "0000436096" "00025249" "90" "365" "0" "365" "0" "c.365G>C" "r.(?)" "p.(Trp122Ser)" "5" "0000436097" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436098" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436099" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436100" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436101" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436102" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436103" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436104" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436105" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000436106" "00025249" "90" "380" "0" "382" "0" "c.380_382dup" "r.(?)" "p.(Phe127_Thr128insIle)" "5" "0000436107" "00025249" "90" "367" "0" "367" "0" "c.367C>T" "r.367c>u" "p.His123Tyr" "5" "0000436108" "00025249" "90" "395" "0" "395" "0" "c.395G>T" "r.395g>u" "p.Cys132Phe" "5" "0000436109" "00025249" "90" "457" "0" "457" "0" "c.457T>C" "r.457u>c" "p.Cys153Arg" "5" "0000436110" "00025249" "90" "457" "0" "457" "0" "c.457T>C" "r.457u>c" "p.Cys153Arg" "5" "0000436111" "00025249" "90" "458" "0" "458" "0" "c.458G>A" "r.458g>a" "p.Cys153Tyr" "5" "0000436112" "00025249" "90" "458" "0" "458" "0" "c.458G>A" "r.458g>a" "p.Cys153Tyr" "5" "0000436113" "00025249" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Cys150Tyr)" "5" "0000436114" "00025249" "90" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Cys104Arg)" "4" "0000436115" "00025249" "90" "310" "0" "310" "0" "c.310T>C" "r.(?)" "p.(Cys104Arg)" "4" "0000436116" "00025249" "90" "302" "0" "302" "0" "c.302G>T" "r.(?)" "p.(Cys101Phe)" "4" "0000436117" "00025249" "90" "304" "0" "312" "0" "c.304_312del" "r.(?)" "p.(Lys102_Cys104del)" "4" "0000436118" "00025249" "90" "502" "-20" "688" "395" "c.502-20_688+395delins(84)" "r.502_888del" "p.Ala168_Pro296del" "5i_6i" "0000436119" "00025249" "70" "461" "0" "461" "0" "c.461A>C" "r.(?)" "p.(His154Pro)" "5" "0000436120" "00025249" "90" "502" "-2" "502" "-2" "c.502-2A>T" "r.502_888del" "p.Ala168_Pro296del" "5i" "0000436121" "00025249" "90" "367" "0" "367" "0" "c.367C>T" "r.367c>u" "p.His123Tyr" "5" "0000436122" "00025249" "90" "395" "0" "395" "0" "c.395G>T" "r.395g>u" "p.Cys132Phe" "5" "0000463729" "00025249" "50" "446" "0" "448" "0" "c.446_448del" "r.(?)" "p.(Tyr149del)" "5" "0000463730" "00025249" "50" "356" "0" "356" "0" "c.356G>T" "NM_001449.4" "p.(Gly119Val)" "5" "0000463731" "00025249" "50" "767" "0" "768" "0" "c.767_768delinsTC" "r.(?)" "p.(Pro256Leu)" "7" "0000463732" "00025249" "50" "596" "0" "596" "0" "c.596G>A" "NM_001449.4" "p.(Arg199His)" "6" "0000463733" "00025249" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Val121Ile)" "5" "0000463734" "00025249" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Val121Ile)" "5" "0000463735" "00025249" "50" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Asn85Ser)" "4" "0000463736" "00025249" "50" "486" "0" "486" "0" "c.486C>G" "r.(?)" "p.(Cys162Trp)" "5" "0000463737" "00025249" "90" "672" "0" "672" "0" "c.672C>G" "r.(?)" "p.(Cys224Trp)" "6" "0000463738" "00025249" "50" "446" "0" "448" "0" "c.446_448del" "r.(?)" "p.(Tyr149del)" "5" "0000463739" "00025249" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "3" "0000463740" "00025249" "50" "366" "0" "366" "0" "c.366G>C" "r.(?)" "p.(Trp122Cys)" "5" "0000463741" "00025249" "50" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "7" "0000463742" "00025249" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_8_" "0000463743" "00025249" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "3" "0000463744" "00025249" "50" "308" "0" "308" "0" "c.308G>T" "r.(?)" "p.(Gly103Val)" "4" "0000463745" "00025249" "50" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Asp125Gly)" "5" "0000463746" "00025249" "50" "697" "0" "697" "0" "c.697A>G" "r.(?)" "p.(Thr233Ala)" "7" "0000463747" "00025249" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Asn38Ser)" "3" "0000463748" "00025249" "50" "5" "0" "5" "0" "c.5C>T" "r.(?)" "p.(Ala2Val)" "3" "0000463749" "00025249" "90" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.(Cys71*)" "4" "0000573702" "00025249" "50" "-26" "-9544" "-26" "-9544" "c.-26-9544G>T" "r.(=)" "p.(=)" "" "0000573703" "00025249" "30" "156" "5" "156" "5" "c.156+5C>T" "r.spl?" "p.?" "" "0000573704" "00025249" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Cys65=)" "" "0000573705" "00025249" "50" "331" "4" "331" "4" "c.331+4C>T" "r.spl?" "p.?" "" "0000573706" "00025249" "50" "604" "0" "604" "0" "c.604G>T" "r.(?)" "p.(Ala202Ser)" "" "0000573707" "00025249" "30" "621" "0" "621" "0" "c.621T>C" "r.(?)" "p.(Tyr207=)" "" "0000573708" "00025249" "50" "860" "0" "860" "0" "c.860dup" "r.(?)" "p.(Asn287LysfsTer62)" "" "0000573709" "00025249" "10" "889" "-18" "889" "-18" "c.889-18del" "r.(=)" "p.(=)" "" "0000573710" "00025249" "30" "889" "-12" "889" "-8" "c.889-12_889-8del" "r.(=)" "p.(=)" "" "0000573711" "00025249" "10" "889" "-11" "889" "-8" "c.889-11_889-8del" "r.(=)" "p.(=)" "" "0000573713" "00025249" "10" "889" "-9" "889" "-9" "c.889-9dup" "r.(=)" "p.(=)" "" "0000573714" "00025249" "10" "889" "-3" "889" "-3" "c.889-3del" "r.spl?" "p.?" "" "0000573715" "00025249" "10" "889" "-3" "889" "-3" "c.889-3del" "r.spl?" "p.?" "" "0000573716" "00025249" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "" "0000573717" "00025249" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "" "0000573718" "00025249" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "" "0000573719" "00025249" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "" "0000573720" "00025249" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "" "0000573721" "00025249" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Ile)" "" "0000573722" "00025249" "50" "944" "0" "944" "0" "c.944C>T" "r.(?)" "p.(Thr315Ile)" "" "0000573724" "00025249" "30" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" "" "0000573725" "00025249" "30" "969" "0" "969" "0" "c.969G>C" "r.(?)" "p.(Pro323=)" "" "0000573726" "00025249" "50" "1008" "0" "1008" "0" "c.*36C>T" "r.(=)" "p.(=)" "" "0000573727" "00025249" "50" "1008" "0" "1008" "0" "c.*36C>T" "r.(=)" "p.(=)" "" "0000573728" "00025249" "30" "1023" "0" "1023" "0" "c.*51G>A" "r.(=)" "p.(=)" "" "0000573729" "00025249" "30" "1023" "0" "1023" "0" "c.*51G>A" "r.(=)" "p.(=)" "" "0000619020" "00025249" "50" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Cys40Tyr)" "" "0000619021" "00025249" "10" "156" "5" "156" "5" "c.156+5C>T" "r.spl?" "p.?" "" "0000619022" "00025249" "10" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Asp147=)" "" "0000619023" "00025249" "50" "563" "0" "563" "0" "c.563G>T" "r.(?)" "p.(Cys188Phe)" "" "0000619024" "00025249" "10" "889" "-13" "889" "-13" "c.889-13T>C" "r.(=)" "p.(=)" "" "0000619025" "00025249" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" "" "0000619026" "00025249" "50" "969" "0" "969" "0" "c.969G>C" "r.(?)" "p.(Pro323=)" "" "0000646954" "00025249" "90" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Cys153Tyr)" "5" "0000653188" "00025249" "30" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "" "0000659098" "00025249" "10" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Cys162=)" "" "0000667515" "00025249" "90" "999" "0" "999" "0" "c.*27del" "r.(?)" "p.(=)" "" "0000693369" "00025249" "10" "-26" "-9615" "-26" "-9615" "c.-26-9615C>G" "r.(=)" "p.(=)" "" "0000697553" "00025249" "70" "546" "0" "546" "0" "c.546T>A" "r.(?)" "p.(His182Gln)" "" "0000697554" "00025249" "70" "671" "0" "671" "0" "c.671G>C" "r.(?)" "p.(Cys224Ser)" "" "0000697798" "00025249" "90" "888" "214" "2627" "0" "c.(?_888+214)_(*1655_?)del" "r.?" "p.?" "" "0000700013" "00025249" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Asn38Ser)" "" "0000700014" "00025249" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Gly48Ser)" "" "0000700015" "00025249" "50" "211" "0" "211" "0" "c.211T>A" "r.(?)" "p.(Cys71Ser)" "" "0000700016" "00025249" "50" "221" "0" "221" "0" "c.221C>G" "r.(?)" "p.(Pro74Arg)" "" "0000700017" "00025249" "50" "280" "0" "280" "0" "c.280A>G" "r.(?)" "p.(Thr94Ala)" "" "0000700018" "00025249" "90" "331" "0" "331" "0" "c.331G>T" "r.(?)" "p.(Gly111*)" "" "0000700019" "00025249" "50" "343" "0" "343" "0" "c.343G>T" "r.(?)" "p.(Val115Leu)" "" "0000700020" "00025249" "50" "395" "0" "395" "0" "c.395G>T" "r.(?)" "p.(Cys132Phe)" "" "0000700021" "00025249" "50" "523" "0" "523" "0" "c.523A>C" "r.(?)" "p.(Thr175Pro)" "" "0000700022" "00025249" "50" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Phe186Leu)" "" "0000700023" "00025249" "50" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.(Cys221Arg)" "" "0000728452" "00025249" "50" "-26" "-9580" "-26" "-9580" "c.-26-9580G>C" "r.(=)" "p.(=)" "" "0000728453" "00025249" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Arg245Gly)" "" "0000728454" "00025249" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Ala263Thr)" "" "0000763686" "00025249" "50" "503" "0" "503" "0" "c.503C>T" "r.(?)" "p.(Ala168Val)" "" "0000809927" "00025249" "90" "161" "0" "161" "0" "c.161dup" "r.(?)" "p.(His55Alafs*3)" "" "0000809928" "00025249" "50" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Arg67Cys)" "" "0000809929" "00025249" "30" "889" "-9" "889" "-9" "c.889-9dup" "r.(=)" "p.(=)" "" "0000856360" "00025249" "50" "65" "0" "65" "0" "c.65A>C" "r.(?)" "p.(Lys22Thr)" "" "0000867062" "00025249" "30" "156" "17" "156" "17" "c.156+17T>C" "r.(=)" "p.(=)" "" "0000867063" "00025249" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Trp)" "" "0000867064" "00025249" "30" "888" "17" "888" "17" "c.888+17C>T" "r.(=)" "p.(=)" "" "0000867065" "00025249" "10" "1004" "0" "1004" "0" "c.*32G>A" "r.(=)" "p.(=)" "" "0000878868" "00025249" "70" "412" "0" "412" "0" "c.412A>C" "r.(?)" "p.(Thr138Pro)" "5" "0000895941" "00025249" "50" "-26" "-9571" "-26" "-9571" "c.-26-9571C>G" "r.(=)" "p.(=)" "" "0000895942" "00025249" "10" "-26" "-9529" "-26" "-9529" "c.-26-9529C>T" "r.(=)" "p.(=)" "" "0000895943" "00025249" "30" "156" "5" "156" "5" "c.156+5C>T" "r.spl?" "p.?" "" "0000895944" "00025249" "30" "753" "0" "753" "0" "c.753C>T" "r.(?)" "p.(His251=)" "" "0000895945" "00025249" "50" "949" "0" "949" "0" "c.949T>C" "r.(?)" "p.(Ser317Pro)" "" "0000915610" "00025249" "30" "332" "-10" "332" "-10" "c.332-10C>A" "r.(=)" "p.(=)" "" "0000915611" "00025249" "50" "847" "0" "847" "0" "c.847C>G" "r.(?)" "p.(Leu283Val)" "" "0000915612" "00025249" "10" "889" "-13" "889" "-13" "c.889-13T>C" "r.(=)" "p.(=)" "" "0000917711" "00025249" "90" "311" "0" "311" "0" "c.311G>A" "r.(?)" "p.(Cys104Tyr)" "" "0000927265" "00025249" "10" "-26" "-5" "-26" "-5" "c.-26-5C>T" "r.spl?" "p.?" "" "0000931340" "00025249" "70" "1008" "0" "1008" "0" "c.*36C>T" "r.(=)" "p.(=)" "" "0000931341" "00025249" "70" "1008" "0" "1008" "0" "c.*36C>T" "r.(=)" "p.(=)" "" "0000951686" "00025249" "50" "454" "0" "454" "0" "c.454A>T" "r.(?)" "p.(Thr152Ser)" "" "0000951687" "00025249" "50" "819" "0" "819" "0" "c.819G>C" "r.(?)" "p.(Glu273Asp)" "" "0000959657" "00025249" "70" "616" "0" "616" "0" "c.616dup" "r.(?)" "p.(Gln206Profs*38)" "5" "0000970759" "00025249" "50" "-26" "-9547" "-26" "-9547" "c.-26-9547G>C" "r.(=)" "p.(=)" "" "0001006452" "00025249" "10" "502" "-10" "502" "-10" "c.502-10C>T" "r.(=)" "p.(=)" "" "0001006453" "00025249" "50" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Ala263Thr)" "" "0001015986" "00025249" "50" "680" "0" "680" "0" "c.680C>A" "r.(?)" "p.(Pro227His)" "" "0001027439" "00025249" "50" "-26" "-9588" "-26" "-9588" "c.-26-9588C>G" "r.(=)" "p.(=)" "" "0001027440" "00025249" "30" "889" "-3" "889" "-3" "c.889-3del" "r.spl?" "p.?" "" "0001027441" "00025249" "50" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Pro323Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002170" "0000000209" "0000002171" "0000000209" "0000003257" "0000000209" "0000003258" "0000000209" "0000007725" "0000000210" "0000009867" "0000000210" "0000009868" "0000000210" "0000009869" "0000000210" "0000011235" "0000000210" "0000011236" "0000137933" "0000234249" "0000144042" "0000234250" "0000206480" "0000436086" "0000206481" "0000436087" "0000206482" "0000436088" "0000206483" "0000436089" "0000206484" "0000436090" "0000206485" "0000436091" "0000206486" "0000436092" "0000206487" "0000436093" "0000206488" "0000436094" "0000206489" "0000436095" "0000206490" "0000436096" "0000206491" "0000436097" "0000206492" "0000436098" "0000206493" "0000436099" "0000206494" "0000436100" "0000206495" "0000436101" "0000206496" "0000436102" "0000206497" "0000436103" "0000206498" "0000436104" "0000206499" "0000436105" "0000206500" "0000436106" "0000206501" "0000436107" "0000206502" "0000436108" "0000206503" "0000436109" "0000206504" "0000436110" "0000206505" "0000436111" "0000206506" "0000436112" "0000206507" "0000436113" "0000206508" "0000436114" "0000206509" "0000436115" "0000206510" "0000436116" "0000206511" "0000436117" "0000206512" "0000436118" "0000206513" "0000436119" "0000206514" "0000436120" "0000221152" "0000463729" "0000221409" "0000463730" "0000221508" "0000463731" "0000221567" "0000463732" "0000221629" "0000463733" "0000221629" "0000463734" "0000221770" "0000463735" "0000221785" "0000463736" "0000221794" "0000463737" "0000221885" "0000463747" "0000222158" "0000463738" "0000222342" "0000463739" "0000222390" "0000463740" "0000222832" "0000463748" "0000222903" "0000463749" "0000222962" "0000463746" "0000222976" "0000463741" "0000222986" "0000463742" "0000223111" "0000463743" "0000223139" "0000463744" "0000223214" "0000463745" "0000290304" "0000646954" "0000296499" "0000653188" "0000304117" "0000667515" "0000315464" "0000697553" "0000315465" "0000697554" "0000315709" "0000697798" "0000317407" "0000700013" "0000317408" "0000700014" "0000317409" "0000700015" "0000317410" "0000700016" "0000317411" "0000700017" "0000317412" "0000700018" "0000317413" "0000700019" "0000317414" "0000700020" "0000317415" "0000700021" "0000317416" "0000700022" "0000317417" "0000700023" "0000363218" "0000763686" "0000418952" "0000878868" "0000432304" "0000917711" "0000449451" "0000959657"