### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMPRSS6) # 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}}" "TMPRSS6" "transmembrane protease, serine 6" "22" "q13.1" "unknown" "NG_012856.2" "UD_132118432186" "" "https://www.LOVD.nl/TMPRSS6" "" "1" "16517" "164656" "609862" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/TMPRSS6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-11-26 19:36:15" "00000" "2026-01-20 18:57:21" ## 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}}" "00021508" "TMPRSS6" "transmembrane protease, serine 6" "001" "NM_153609.2" "" "NP_705837.1" "" "" "" "-114" "3077" "2436" "37499693" "37461479" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00535" "IRIDA" "anemia, iron deficiency, iron-refractory (IRIDA)" "AR" "206200" "" "" "" "00006" "2014-09-23 22:17:57" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TMPRSS6" "00535" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00024132" "" "" "" "1" "" "00813" "Grandchamp, submitted" "" "M" "yes" "Algeria" "" "0" "" "" "" "" "00024133" "" "" "" "1" "" "00813" "Grandchamp, submitted" "" "M" "no" "France" "" "0" "" "" "" "" "00024134" "" "" "" "1" "" "00813" "Grandchamp, submitted" "" "M" "no" "France" "" "0" "" "" "" "" "00024135" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Venezuela" "" "0" "" "" "" "" "00024136" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00024137" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "" "Colombia" "" "0" "" "" "" "" "00024138" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Spain" "" "0" "" "" "" "" "00024139" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "F" "" "Spain" "" "0" "" "" "" "" "00024140" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00024141" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00024142" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Turkey" "" "0" "" "" "" "" "00024143" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00024144" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00024145" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "F" "no" "Italy" "" "0" "" "" "" "" "00024146" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "France" "" "0" "" "" "" "" "00024147" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Ireland" "" "0" "" "" "" "" "00024148" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "F" "no" "Congo" "" "0" "" "" "" "" "00024149" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Belgium" "" "0" "" "" "" "" "00024150" "" "" "" "1" "" "00776" "{PMID:De Falco 2014:25156943}, {DOI:De Falco 2014:10.1002/humu.22632}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00024151" "" "" "" "2" "" "00776" "{PMID:Finberg 2008:18408718}" "family, 2 affecteds" "" "" "" "" "0" "" "" "Europe, north" "" "00024152" "" "" "" "2" "" "00776" "{PMID:Ramsay 2009:19592582}" "family, 2 affecteds" "" "" "Spain" "" "0" "" "" "" "" "00024153" "" "" "" "1" "" "00776" "{PMID:Silvestri 2009:19357398}" "family, 1 affected" "" "" "France" "" "0" "" "" "" "" "00024154" "" "" "" "1" "" "00776" "{PMID:Tchou 2009:19708871}" "family, 1 affected" "" "" "Switzerland" "" "0" "" "" "" "" "00024155" "" "" "" "1" "" "00776" "{PMID:De Falco 2010:20232450}" "family, 1 affected" "" "" "India" "" "0" "" "" "" "" "00024156" "" "" "" "1" "" "00776" "{PMID:De Falco 2010:20232450}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00024157" "" "" "" "3" "" "00776" "{PMID:De Falco 2010:20232450}" "family, 3 affecteds" "" "" "" "" "0" "" "" "Arab" "" "00024158" "" "" "" "1" "" "00776" "{PMID:De Falco 2010:20232450}" "family, 1 affected" "" "" "Algeria" "" "0" "" "" "" "" "00024159" "" "" "" "1" "" "00776" "{PMID:Altamura 2010:20704562}" "family, 1 affected" "" "" "Lebanon" "" "0" "" "" "" "" "00024160" "" "" "" "2" "" "00776" "{PMID:Beutler 2010:19818657}" "family, 2 affecteds" "" "" "Belgium" "" "0" "" "" "" "" "00024161" "" "" "" "1" "" "00776" "{PMID:Choi 2012:21618415}" "family, 1 affected" "" "" "Korea" "" "0" "" "" "" "" "00024162" "" "" "" "2" "" "00776" "{PMID:Guillem 2012:22581667}" "family, 2 affecteds" "" "" "France" "" "0" "" "" "" "" "00024163" "" "" "" "1" "" "00776" "{PMID:Guillem 2012:22581667}" "family, 1 affected" "" "" "France" "" "0" "" "" "" "" "00024164" "" "" "" "1" "" "00776" "{PMID:Pellegrino 2012:22765023}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00024165" "" "" "" "2" "" "00776" "{PMID:Khuong-Quang 2013:23319530}" "family, 2 affecteds" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00024166" "" "" "" "2" "" "00776" "{PMID:Finberg 2008:18408718}" "family, 2 affecteds" "" "" "Turkey" "" "0" "" "" "" "" "00024167" "" "" "" "2" "" "00776" "{PMID:Finberg 2008:18408718}" "family, 2 affecteds" "" "" "" "" "0" "" "" "Europe, north" "" "00024168" "" "" "" "1" "" "00776" "{PMID:Finberg 2008:18408718}" "family, 1 affected" "" "" "Nigeria" "" "0" "" "" "" "" "00024169" "" "" "" "1" "" "00776" "{PMID:Finberg 2008:18408718}" "family, 1 affected" "" "" "United States" "" "0" "" "" "African American" "" "00024170" "" "" "" "1" "" "00776" "{PMID:Guillem 2008:18596229}" "family, 1 affected" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "English" "" "00024171" "" "" "" "5" "" "00776" "{PMID:Melis 2008:18603562}" "family, 5 affecteds" "" "" "Italy" "" "0" "" "" "Sardinia" "" "00024172" "" "" "" "1" "" "00776" "{PMID:De Falco 2010:20232450}" "family, 1 affected" "" "" "Austria" "" "0" "" "" "" "" "00024173" "" "" "" "2" "" "00776" "{PMID:De Falco 2010:20232450}" "family, 2 affecteds" "" "" "Greece" "" "0" "" "" "" "" "00024174" "" "" "" "3" "" "00776" "{PMID:De Falco 2010:20232450}" "family, 3 affecteds" "" "" "" "" "0" "" "" "Arab" "" "00024175" "" "" "" "1" "" "00776" "{PMID:Beutler 2010:19818657}" "family, 1 affected" "" "" "Netherlands" "" "0" "" "" "" "" "00024176" "" "" "" "2" "" "00776" "{PMID:Guillem 2012:22581667}" "family, 2 affecteds" "" "" "Algeria" "" "0" "" "" "" "" "00024177" "" "" "" "1" "" "00776" "{PMID:Cau 2012:22169218}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "" "" "00024178" "" "" "" "1" "" "00776" "" "" "M" "" "(Denmark)" "" "0" "" "" "" "" "00293110" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293111" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293112" "" "" "" "37" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293113" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00024132" "00535" "00024133" "00535" "00024134" "00535" "00024135" "00535" "00024136" "00535" "00024137" "00535" "00024138" "00535" "00024139" "00535" "00024140" "00535" "00024141" "00535" "00024142" "00535" "00024143" "00535" "00024144" "00535" "00024145" "00535" "00024146" "00535" "00024147" "00535" "00024148" "00535" "00024149" "00535" "00024150" "00535" "00024151" "00535" "00024152" "00535" "00024153" "00535" "00024154" "00535" "00024155" "00535" "00024156" "00535" "00024157" "00535" "00024158" "00535" "00024159" "00535" "00024160" "00535" "00024161" "00535" "00024162" "00535" "00024163" "00535" "00024164" "00535" "00024165" "00535" "00024166" "00535" "00024167" "00535" "00024168" "00535" "00024169" "00535" "00024170" "00535" "00024171" "00535" "00024172" "00535" "00024173" "00535" "00024174" "00535" "00024175" "00535" "00024176" "00535" "00024177" "00535" "00024178" "00535" "00293110" "00198" "00293111" "00198" "00293112" "00198" "00293113" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00535 ## Count = 47 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020234" "00535" "00024132" "00813" "Familial, autosomal recessive" "15y" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020235" "00535" "00024133" "00813" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020236" "00535" "00024134" "00813" "Familial, autosomal recessive" "3y" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020237" "00535" "00024135" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020238" "00535" "00024136" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020239" "00535" "00024137" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020240" "00535" "00024138" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020241" "00535" "00024139" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020242" "00535" "00024140" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020243" "00535" "00024141" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020244" "00535" "00024142" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020245" "00535" "00024143" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020246" "00535" "00024144" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020247" "00535" "00024145" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020248" "00535" "00024146" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020249" "00535" "00024147" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020250" "00535" "00024148" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020251" "00535" "00024149" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020252" "00535" "00024150" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020253" "00535" "00024151" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020254" "00535" "00024152" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020255" "00535" "00024153" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020256" "00535" "00024154" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020257" "00535" "00024155" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020258" "00535" "00024156" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020259" "00535" "00024157" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020260" "00535" "00024158" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020261" "00535" "00024159" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020262" "00535" "00024160" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020263" "00535" "00024161" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020264" "00535" "00024162" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020265" "00535" "00024163" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020266" "00535" "00024164" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020267" "00535" "00024165" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020268" "00535" "00024166" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020269" "00535" "00024167" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020270" "00535" "00024168" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020271" "00535" "00024169" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020272" "00535" "00024170" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020273" "00535" "00024171" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020274" "00535" "00024172" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020275" "00535" "00024173" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020276" "00535" "00024174" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020277" "00535" "00024175" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020278" "00535" "00024176" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020279" "00535" "00024177" "00776" "Familial, autosomal recessive" "" "IRIDA" "" "" "" "" "" "" "" "" "" "" "" "0000020280" "00535" "00024178" "00776" "Isolated (sporadic)" "13y" "normal bone marrow biopsy, intramuscular injection of iron has only provided a partial increase in hemoglobin; Age/Diagnosis 2y" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024119" "00024132" "1" "00813" "00813" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024120" "00024133" "2" "00813" "00813" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024121" "00024134" "2" "00813" "00813" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024122" "00024135" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024123" "00024136" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024124" "00024137" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024125" "00024138" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024126" "00024139" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024127" "00024140" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024128" "00024141" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024129" "00024142" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024130" "00024143" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024131" "00024144" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024132" "00024145" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024133" "00024146" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024134" "00024147" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024135" "00024148" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024136" "00024149" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024137" "00024150" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024138" "00024151" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024139" "00024152" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024140" "00024153" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024141" "00024154" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024142" "00024155" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024143" "00024156" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024144" "00024157" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024145" "00024158" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024146" "00024159" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024147" "00024160" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024148" "00024161" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024149" "00024162" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024150" "00024163" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024151" "00024164" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024152" "00024165" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024153" "00024166" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024154" "00024167" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024155" "00024168" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024156" "00024169" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024157" "00024170" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024158" "00024171" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024159" "00024172" "2" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024160" "00024173" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024161" "00024174" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024162" "00024175" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024163" "00024176" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024164" "00024177" "1" "00776" "00776" "2014-10-31 18:19:26" "00705" "2014-10-31 18:19:26" "SEQ" "DNA" "" "" "0000024165" "00024178" "1" "00776" "00006" "2014-10-31 18:23:55" "" "" "SEQ" "DNA" "" "" "0000294278" "00293110" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294279" "00293111" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294280" "00293112" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294281" "00293113" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 47 "{{screeningid}}" "{{geneid}}" "0000024119" "TMPRSS6" "0000024120" "TMPRSS6" "0000024121" "TMPRSS6" "0000024122" "TMPRSS6" "0000024123" "TMPRSS6" "0000024124" "TMPRSS6" "0000024125" "TMPRSS6" "0000024126" "TMPRSS6" "0000024127" "TMPRSS6" "0000024128" "TMPRSS6" "0000024129" "TMPRSS6" "0000024130" "TMPRSS6" "0000024131" "TMPRSS6" "0000024132" "TMPRSS6" "0000024133" "TMPRSS6" "0000024134" "TMPRSS6" "0000024135" "TMPRSS6" "0000024136" "TMPRSS6" "0000024137" "TMPRSS6" "0000024138" "TMPRSS6" "0000024139" "TMPRSS6" "0000024140" "TMPRSS6" "0000024141" "TMPRSS6" "0000024142" "TMPRSS6" "0000024143" "TMPRSS6" "0000024144" "TMPRSS6" "0000024145" "TMPRSS6" "0000024146" "TMPRSS6" "0000024147" "TMPRSS6" "0000024148" "TMPRSS6" "0000024149" "TMPRSS6" "0000024150" "TMPRSS6" "0000024151" "TMPRSS6" "0000024152" "TMPRSS6" "0000024153" "TMPRSS6" "0000024154" "TMPRSS6" "0000024155" "TMPRSS6" "0000024156" "TMPRSS6" "0000024157" "TMPRSS6" "0000024158" "TMPRSS6" "0000024159" "TMPRSS6" "0000024160" "TMPRSS6" "0000024161" "TMPRSS6" "0000024162" "TMPRSS6" "0000024163" "TMPRSS6" "0000024164" "TMPRSS6" "0000024165" "TMPRSS6" ## 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 = 164 "{{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}}" "0000046556" "10" "90" "22" "37466585" "37466585" "del" "0" "00813" "TMPRSS6_000001" "g.37466585del" "" "Grandchamp, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070545del" "" "pathogenic" "" "0000046557" "11" "90" "22" "37485777" "37485777" "subst" "0" "00813" "TMPRSS6_000002" "g.37485777A>G" "" "Grandchamp, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.37089737A>G" "" "pathogenic" "" "0000046558" "11" "90" "22" "37462263" "37462263" "subst" "2.07892E-5" "00813" "TMPRSS6_000004" "g.37462263G>C" "" "Grandchamp, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.37066223G>C" "" "pathogenic" "" "0000046559" "10" "70" "22" "37485621" "37485621" "subst" "0" "00776" "TMPRSS6_000006" "g.37485621G>T" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37089581G>T" "" "likely pathogenic" "" "0000046560" "10" "90" "22" "37462889" "37462890" "ins" "0" "00776" "TMPRSS6_000007" "g.37462889_37462890insA" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37066849_37066850insA" "" "pathogenic" "" "0000046561" "10" "70" "22" "37485621" "37485621" "subst" "0" "00776" "TMPRSS6_000006" "g.37485621G>T" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37089581G>T" "" "likely pathogenic" "" "0000046562" "10" "90" "22" "37499407" "37499411" "del" "0" "00776" "TMPRSS6_000008" "g.37499407_37499411del" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "76_80delGGTGA" "" "Germline" "yes" "" "0" "" "" "g.37103367_37103371del" "" "pathogenic" "" "0000046563" "10" "70" "22" "37469592" "37469592" "subst" "0" "00776" "TMPRSS6_000010" "g.37469592T>C" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37073552T>C" "" "likely pathogenic" "" "0000046564" "1" "90" "22" "37480345" "37480345" "subst" "0" "00776" "TMPRSS6_000011" "g.37480345G>A" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37084305G>A" "" "pathogenic" "" "0000046565" "10" "90" "22" "37466675" "37466685" "del" "0" "00776" "TMPRSS6_000013" "g.37466675_37466685del" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "1714_1724del11" "" "Germline" "yes" "" "0" "" "" "g.37070635_37070645del" "" "pathogenic" "" "0000046566" "1" "90" "22" "37480334" "37480334" "subst" "0" "00776" "TMPRSS6_000014" "g.37480334C>T" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37084294C>T" "" "pathogenic" "" "0000046567" "10" "90" "22" "37466624" "37466624" "subst" "4.07534E-6" "00776" "TMPRSS6_000016" "g.37466624A>G" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070584A>G" "" "pathogenic" "" "0000046568" "1" "90" "22" "37499297" "37499297" "del" "0" "00776" "TMPRSS6_000017" "g.37499297del" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37103257del" "" "pathogenic" "" "0000046569" "1" "90" "22" "37480876" "37480876" "subst" "0" "00776" "TMPRSS6_000018" "g.37480876C>A" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37084836C>A" "" "pathogenic" "" "0000046570" "1" "90" "22" "37466603" "37466603" "subst" "1.63019E-5" "00776" "TMPRSS6_000019" "g.37466603G>A" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070563G>A" "" "pathogenic" "" "0000046571" "1" "90" "22" "37470647" "37470650" "dup" "0" "00776" "TMPRSS6_000021" "g.37470647_37470650dup" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "1468_1468+3dupGGTG" "" "Germline" "yes" "" "0" "" "" "g.37074607_37074610dup" "" "pathogenic" "" "0000046572" "10" "90" "22" "37465148" "37465155" "dup" "0" "00776" "TMPRSS6_000022" "g.37465148_37465155dup" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37069108_37069115dup" "" "pathogenic" "" "0000046573" "10" "90" "22" "37485740" "37485740" "subst" "0" "00776" "TMPRSS6_000023" "g.37485740C>A" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37089700C>A" "" "pathogenic" "" "0000046574" "1" "70" "22" "37482412" "37482412" "subst" "4.25655E-6" "00776" "TMPRSS6_000024" "g.37482412G>A" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "1025C>T" "" "Germline" "yes" "" "0" "" "" "g.37086372G>A" "" "likely pathogenic" "" "0000046575" "1" "90" "22" "37471220" "37471220" "subst" "4.06402E-6" "00776" "TMPRSS6_000025" "g.37471220C>T" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37075180C>T" "" "pathogenic" "" "0000046576" "1" "90" "22" "37462970" "37462971" "ins" "0" "00776" "TMPRSS6_000027" "g.37462970_37462971insGGGG" "" "{PMID:Ramsay 2009:19592582}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37066930_37066931insGGGG" "" "pathogenic" "" "0000046577" "1" "90" "22" "37469593" "37469593" "subst" "2.84338E-5" "00776" "TMPRSS6_000026" "g.37469593C>T" "" "{PMID:Silvestri 2009:19357398}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37073553C>T" "" "pathogenic" "" "0000046578" "1" "90" "22" "37480412" "37481465" "del" "0" "00776" "TMPRSS6_000030" "g.37480412_37481465del" "" "{PMID:Tchou 2009:19708871}" "" "g.29139_30192del" "" "Unknown" "yes" "" "0" "" "" "g.37084372_37085425del" "" "pathogenic" "" "0000046579" "10" "90" "22" "37492697" "37492697" "subst" "5.99305E-6" "00776" "TMPRSS6_000031" "g.37492697T>C" "" "{PMID:De Falco 2010:20232450}" "" "536A>G" "" "Unknown" "yes" "" "0" "" "" "g.37096657T>C" "" "pathogenic" "" "0000046580" "1" "90" "22" "37491614" "37491614" "subst" "1.64186E-5" "00776" "TMPRSS6_000032" "g.37491614A>G" "" "{PMID:De Falco 2010:20232450}" "" "749 T>C" "" "Unknown" "yes" "" "0" "" "" "g.37095574A>G" "" "pathogenic" "" "0000046581" "10" "90" "22" "37482412" "37482412" "subst" "4.25655E-6" "00776" "TMPRSS6_000024" "g.37482412G>A" "" "{PMID:De Falco 2010:20232450}" "" "1025C>T" "" "Unknown" "yes" "" "0" "" "" "g.37086372G>A" "" "pathogenic" "" "0000046582" "1" "90" "22" "37469626" "37469626" "subst" "0" "00776" "TMPRSS6_000015" "g.37469626A>T" "" "{PMID:De Falco 2010:20232450}" "" "1642C>A" "" "Unknown" "yes" "" "0" "" "" "g.37073586A>T" "" "pathogenic" "" "0000046583" "10" "90" "22" "37492697" "37492697" "subst" "5.99305E-6" "00776" "TMPRSS6_000031" "g.37492697T>C" "" "{PMID:Altamura 2010:20704562}" "" "442A>G" "" "Unknown" "yes" "" "0" "" "" "g.37096657T>C" "" "pathogenic" "" "0000046584" "1" "90" "22" "37465233" "37465233" "subst" "0" "00776" "TMPRSS6_000035" "g.37465233G>A" "" "{PMID:Beutler 2010:19818657}" "" "2137C>T" "" "Unknown" "yes" "" "0" "" "" "g.37069193G>A" "" "pathogenic" "" "0000046585" "1" "90" "22" "37466585" "37466585" "subst" "5.69958E-5" "00776" "TMPRSS6_000037" "g.37466585C>G" "" "{PMID:Choi 2012:21618415}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37070545C>G" "" "pathogenic" "" "0000046586" "1" "90" "22" "37485777" "37485777" "subst" "0" "00776" "TMPRSS6_000002" "g.37485777A>G" "" "{PMID:Guillem 2012:22581667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37089737A>G" "" "pathogenic" "" "0000046587" "1" "90" "22" "37494479" "37494479" "subst" "0" "00776" "TMPRSS6_000005" "g.37494479C>T" "" "{PMID:Guillem 2012:22581667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37098439C>T" "" "pathogenic" "" "0000046588" "1" "90" "22" "37482412" "37482412" "subst" "4.25655E-6" "00776" "TMPRSS6_000024" "g.37482412G>A" "" "{PMID:Pellegrino 2012:22765023}" "" "1025C>T" "" "Unknown" "yes" "" "0" "" "" "g.37086372G>A" "" "pathogenic" "" "0000046589" "1" "90" "22" "37471220" "37471220" "subst" "4.06402E-6" "00776" "TMPRSS6_000025" "g.37471220C>T" "" "{PMID:Khuong-Quang 2013:23319530}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37075180C>T" "" "pathogenic" "" "0000046590" "10" "90" "22" "37465346" "37465347" "ins" "0" "00776" "TMPRSS6_000040" "g.37465346_37465347insGC" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37069306_37069307insGC" "" "pathogenic" "" "0000046591" "1" "90" "22" "37466585" "37466585" "del" "0" "00776" "TMPRSS6_000001" "g.37466585del" "" "{PMID:Finberg 2008:18408718}" "" "1813delG" "" "Unknown" "yes" "" "0" "" "" "g.37070545del" "" "pathogenic" "" "0000046592" "10" "90" "22" "37465385" "37465385" "subst" "0" "00776" "TMPRSS6_000041" "g.37465385C>G" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37069345C>G" "" "pathogenic" "" "0000046593" "1" "90" "22" "37480815" "37480815" "subst" "0" "00776" "TMPRSS6_000042" "g.37480815G>T" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37084775G>T" "" "pathogenic" "" "0000046594" "1" "90" "22" "37466597" "37466597" "subst" "5.29609E-5" "00776" "TMPRSS6_000044" "g.37466597G>A" "" "{PMID:Guillem 2008:18596229}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37070557G>A" "" "pathogenic" "" "0000046595" "10" "90" "22" "37491590" "37491590" "subst" "0" "00776" "TMPRSS6_000046" "g.37491590C>G" "" "{PMID:Melis 2008:18603562}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37095550C>G" "" "pathogenic" "" "0000046596" "1" "90" "22" "37492066" "37492066" "del" "0" "00776" "TMPRSS6_000047" "g.37492066del" "" "{PMID:De Falco 2010:20232450}" "" "611delC" "" "Unknown" "yes" "" "0" "" "" "g.37096026del" "" "pathogenic" "" "0000046597" "10" "90" "22" "37485743" "37485743" "del" "0" "00776" "TMPRSS6_000049" "g.37485743del" "" "{PMID:De Falco 2010:20232450}" "" "855delG" "" "Unknown" "yes" "" "0" "" "" "g.37089703del" "" "pathogenic" "" "0000046598" "10" "90" "22" "37466973" "37466973" "subst" "4.07385E-6" "00776" "TMPRSS6_000050" "g.37466973G>T" "" "{PMID:De Falco 2010:20232450}" "" "1796C>A" "" "Unknown" "yes" "" "0" "" "" "g.37070933G>T" "" "pathogenic" "" "0000046599" "10" "90" "22" "37492065" "37492065" "del" "2.437E-5" "00776" "TMPRSS6_000051" "g.37492065del" "" "{PMID:Beutler 2010:19818657}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37096025del" "" "pathogenic" "" "0000046600" "10" "90" "22" "37466585" "37466585" "del" "0" "00776" "TMPRSS6_000001" "g.37466585del" "" "{PMID:Guillem 2012:22581667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37070545del" "" "pathogenic" "" "0000046601" "10" "90" "22" "37491590" "37491590" "subst" "0" "00776" "TMPRSS6_000046" "g.37491590C>G" "" "{PMID:Cau 2012:22169218}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37095550C>G" "" "pathogenic" "" "0000046602" "20" "90" "22" "37466585" "37466585" "del" "0" "00813" "TMPRSS6_000001" "g.37466585del" "" "Grandchamp, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070545del" "" "pathogenic" "" "0000046603" "21" "90" "22" "37471291" "37471291" "subst" "4.08073E-6" "00813" "TMPRSS6_000003" "g.37471291T>C" "" "Grandchamp, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.37075251T>C" "" "pathogenic" "" "0000046604" "21" "90" "22" "37494479" "37494479" "subst" "0" "00813" "TMPRSS6_000005" "g.37494479C>T" "" "Grandchamp, submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.37098439C>T" "" "pathogenic" "" "0000046605" "20" "90" "22" "37485621" "37485621" "subst" "0" "00776" "TMPRSS6_000006" "g.37485621G>T" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37089581G>T" "" "pathogenic" "" "0000046606" "20" "90" "22" "37462889" "37462890" "ins" "0" "00776" "TMPRSS6_000007" "g.37462889_37462890insA" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37066849_37066850insA" "" "pathogenic" "" "0000046607" "20" "70" "22" "37485621" "37485621" "subst" "0" "00776" "TMPRSS6_000006" "g.37485621G>T" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37089581G>T" "" "likely pathogenic" "" "0000046608" "20" "90" "22" "37466575" "37466575" "subst" "0" "00776" "TMPRSS6_000009" "g.37466575A>C" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070535A>C" "" "pathogenic" "" "0000046609" "20" "90" "22" "37469592" "37469592" "subst" "0" "00776" "TMPRSS6_000010" "g.37469592T>C" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37073552T>C" "" "pathogenic" "" "0000046610" "2" "90" "22" "37466524" "37466524" "subst" "0" "00776" "TMPRSS6_000012" "g.37466524C>G" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070484C>G" "" "pathogenic" "" "0000046611" "20" "90" "22" "37466675" "37466685" "del" "0" "00776" "TMPRSS6_000013" "g.37466675_37466685del" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070635_37070645del" "" "pathogenic" "" "0000046612" "2" "90" "22" "37469626" "37469626" "subst" "0" "00776" "TMPRSS6_000015" "g.37469626A>G" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37073586A>G" "" "pathogenic" "" "0000046613" "20" "90" "22" "37466624" "37466624" "subst" "4.07534E-6" "00776" "TMPRSS6_000016" "g.37466624A>G" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070584A>G" "" "pathogenic" "" "0000046614" "2" "90" "22" "37466624" "37466624" "subst" "4.07534E-6" "00776" "TMPRSS6_000016" "g.37466624A>G" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070584A>G" "" "pathogenic" "" "0000046615" "2" "90" "22" "37466624" "37466624" "subst" "4.07534E-6" "00776" "TMPRSS6_000016" "g.37466624A>G" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070584A>G" "" "pathogenic" "" "0000046616" "2" "90" "22" "37466578" "37466578" "subst" "0" "00776" "TMPRSS6_000020" "g.37466578G>C" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070538G>C" "" "pathogenic" "" "0000046617" "2" "90" "22" "37466585" "37466585" "del" "0" "00776" "TMPRSS6_000001" "g.37466585del" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070545del" "" "pathogenic" "" "0000046618" "20" "90" "22" "37465148" "37465155" "dup" "0" "00776" "TMPRSS6_000022" "g.37465148_37465155dup" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37069108_37069115dup" "" "pathogenic" "" "0000046619" "20" "90" "22" "37485740" "37485740" "subst" "0" "00776" "TMPRSS6_000023" "g.37485740C>A" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37089700C>A" "" "pathogenic" "" "0000046620" "2" "90" "22" "37466624" "37466624" "subst" "4.07534E-6" "00776" "TMPRSS6_000016" "g.37466624A>G" "" "{PMID25156943:De Falco 2014}, {DOI10.1002/humu.22632:De Falco 2014}" "" "" "" "Germline" "yes" "" "0" "" "" "g.37070584A>G" "" "pathogenic" "" "0000046621" "2" "90" "22" "37469593" "37469593" "subst" "2.84338E-5" "00776" "TMPRSS6_000026" "g.37469593C>T" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37073553C>T" "" "pathogenic" "" "0000046622" "2" "90" "22" "37494466" "37494466" "subst" "8.1211E-6" "00776" "TMPRSS6_000028" "g.37494466G>T" "" "{PMID:Ramsay 2009:19592582}" "" "467C>A" "" "Unknown" "yes" "" "0" "" "" "g.37098426G>T" "" "pathogenic" "" "0000046623" "2" "90" "22" "37469590" "37469590" "subst" "1.62473E-5" "00776" "TMPRSS6_000029" "g.37469590C>T" "" "{PMID:Silvestri 2009:19357398}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37073550C>T" "" "pathogenic" "" "0000046624" "2" "90" "22" "37482412" "37482412" "subst" "4.25655E-6" "00776" "TMPRSS6_000024" "g.37482412G>A" "" "{PMID:Tchou 2009:19708871}" "" "1025C>T" "" "Unknown" "yes" "" "0" "" "" "g.37086372G>A" "" "pathogenic" "" "0000046625" "20" "90" "22" "37492697" "37492697" "subst" "5.99305E-6" "00776" "TMPRSS6_000031" "g.37492697T>C" "" "{PMID:De Falco 2010:20232450}" "" "536A>G" "" "Unknown" "yes" "" "0" "" "" "g.37096657T>C" "" "pathogenic" "" "0000046626" "20" "90" "22" "37485669" "37485669" "subst" "1.6623E-5" "00776" "TMPRSS6_000033" "g.37485669C>T" "" "{PMID:De Falco 2010:20232450}" "" "926G>A" "" "Unknown" "yes" "" "0" "" "" "g.37089629C>T" "" "pathogenic" "" "0000046627" "20" "90" "22" "37482412" "37482412" "subst" "4.25655E-6" "00776" "TMPRSS6_000024" "g.37482412G>A" "" "{PMID:De Falco 2010:20232450}" "" "1025C>T" "" "Unknown" "yes" "" "0" "" "" "g.37086372G>A" "" "pathogenic" "" "0000046628" "2" "90" "22" "37466684" "37466685" "dup" "0" "00776" "TMPRSS6_000034" "g.37466684_37466685dup" "" "{PMID:De Falco 2010:20232450}" "" "1822_1823insCC" "" "Unknown" "yes" "" "0" "" "" "g.37070644_37070645dup" "" "pathogenic" "" "0000046629" "20" "90" "22" "37492697" "37492697" "subst" "5.99305E-6" "00776" "TMPRSS6_000031" "g.37492697T>C" "" "{PMID:Altamura 2010:20704562}" "" "442A>G" "" "Unknown" "yes" "" "0" "" "" "g.37096657T>C" "" "pathogenic" "" "0000046630" "2" "90" "22" "37469571" "37469571" "subst" "0" "00776" "TMPRSS6_000036" "g.37469571C>T" "" "{PMID:Beutler 2010:19818657}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37073531C>T" "" "pathogenic" "" "0000046631" "2" "90" "22" "37485617" "37485617" "subst" "0" "00776" "TMPRSS6_000038" "g.37485617C>A" "" "{PMID:Choi 2012:21618415}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37089577C>A" "" "pathogenic" "" "0000046632" "2" "90" "22" "37471291" "37471291" "subst" "4.08073E-6" "00776" "TMPRSS6_000003" "g.37471291T>C" "" "{PMID:Guillem 2012:22581667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37075251T>C" "" "pathogenic" "" "0000046633" "2" "90" "22" "37462263" "37462263" "subst" "2.07892E-5" "00776" "TMPRSS6_000004" "g.37462263G>C" "" "{PMID:Guillem 2012:22581667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37066223G>C" "" "pathogenic" "" "0000046634" "2" "90" "22" "37480883" "37480891" "del" "0" "00776" "TMPRSS6_000039" "g.37480883_37480891del" "" "{PMID:Pellegrino 2012:22765023}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37084843_37084851del" "" "pathogenic" "" "0000046635" "2" "90" "22" "37469590" "37469590" "subst" "1.62473E-5" "00776" "TMPRSS6_000029" "g.37469590C>T" "" "{PMID:Khuong-Quang 2013:23319530}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37073550C>T" "" "pathogenic" "" "0000046636" "20" "90" "22" "37465346" "37465347" "ins" "0" "00776" "TMPRSS6_000040" "g.37465346_37465347insGC" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37069306_37069307insGC" "" "pathogenic" "" "0000046637" "2" "90" "22" "37469571" "37469571" "subst" "0" "00776" "TMPRSS6_000036" "g.37469571C>T" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37073531C>T" "" "pathogenic" "" "0000046638" "20" "90" "22" "37465385" "37465385" "subst" "0" "00776" "TMPRSS6_000041" "g.37465385C>G" "" "{PMID:Finberg 2008:18408718}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37069345C>G" "" "pathogenic" "" "0000046639" "2" "90" "22" "37470735" "37470735" "del" "0" "00776" "TMPRSS6_000043" "g.37470735del" "" "{PMID:Finberg 2008:18408718}" "" "1383delA" "" "Unknown" "yes" "" "0" "" "" "g.37074695del" "" "pathogenic" "" "0000046640" "2" "90" "22" "37480379" "37480379" "subst" "0" "00776" "TMPRSS6_000045" "g.37480379A>C" "" "{PMID:Guillem 2008:18596229}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37084339A>C" "" "pathogenic" "" "0000046641" "20" "90" "22" "37491590" "37491590" "subst" "0" "00776" "TMPRSS6_000046" "g.37491590C>G" "" "{PMID:Melis 2008:18603562}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37095550C>G" "" "pathogenic" "" "0000046642" "2" "90" "22" "37485797" "37485797" "del" "0" "00776" "TMPRSS6_000048" "g.37485797del" "" "{PMID:De Falco 2010:20232450}" "" "790delG" "" "Unknown" "yes" "" "0" "" "" "g.37089757del" "" "pathogenic" "" "0000046643" "20" "90" "22" "37485743" "37485743" "del" "0" "00776" "TMPRSS6_000049" "g.37485743del" "" "{PMID:De Falco 2010:20232450}" "" "855delG" "" "Unknown" "yes" "" "0" "" "" "g.37089703del" "" "pathogenic" "" "0000046644" "20" "90" "22" "37466973" "37466973" "subst" "4.07385E-6" "00776" "TMPRSS6_000050" "g.37466973G>T" "" "{PMID:De Falco 2010:20232450}" "" "1796C>A" "" "Unknown" "yes" "" "0" "" "" "g.37070933G>T" "" "pathogenic" "" "0000046645" "20" "90" "22" "37492065" "37492065" "del" "2.437E-5" "00776" "TMPRSS6_000051" "g.37492065del" "" "{PMID:Beutler 2010:19818657}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37096025del" "" "pathogenic" "" "0000046646" "20" "90" "22" "37466585" "37466585" "del" "0" "00776" "TMPRSS6_000001" "g.37466585del" "" "{PMID:Guillem 2012:22581667}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37070545del" "" "pathogenic" "" "0000046647" "20" "90" "22" "37491590" "37491590" "subst" "0" "00776" "TMPRSS6_000046" "g.37491590C>G" "" "{PMID:Cau 2012:22169218}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.37095550C>G" "" "pathogenic" "" "0000046648" "3" "70" "22" "37462164" "37462164" "subst" "4.08363E-6" "00776" "TMPRSS6_000052" "g.37462164G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.37066124G>A" "" "likely pathogenic" "" "0000248944" "0" "10" "22" "37462936" "37462936" "subst" "0.566226" "02325" "TMPRSS6_000054" "g.37462936A>G" "" "" "" "TMPRSS6(NM_153609.4):c.2180T>C (p.V727A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37066896A>G" "" "benign" "" "0000311908" "0" "10" "22" "37469591" "37469591" "subst" "0.534709" "02325" "TMPRSS6_000055" "g.37469591G>A" "" "" "" "TMPRSS6(NM_153609.4):c.1536C>T (p.D512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37073551G>A" "" "benign" "" "0000311909" "0" "10" "22" "37462926" "37462926" "subst" "0.360759" "02325" "TMPRSS6_000053" "g.37462926G>A" "" "" "" "TMPRSS6(NM_153609.4):c.2190C>T (p.Y730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37066886G>A" "" "benign" "" "0000311910" "0" "10" "22" "37499386" "37499386" "subst" "0.161732" "02325" "TMPRSS6_000056" "g.37499386C>T" "" "" "" "TMPRSS6(NM_153609.4):c.72G>A (p.P24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37103346C>T" "" "benign" "" "0000350661" "0" "50" "22" "37462173" "37462173" "subst" "0.00814378" "02327" "TMPRSS6_000057" "g.37462173C>T" "" "" "" "TMPRSS6(NM_153609.2):c.2383G>A (p.(Val795Ile)), TMPRSS6(NM_153609.4):c.2356G>A (p.V786I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.37066133C>T" "" "VUS" "" "0000571935" "0" "30" "22" "37462173" "37462173" "subst" "0.00814378" "01804" "TMPRSS6_000057" "g.37462173C>T" "" "" "" "TMPRSS6(NM_153609.2):c.2383G>A (p.(Val795Ile)), TMPRSS6(NM_153609.4):c.2356G>A (p.V786I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37066133C>T" "" "likely benign" "" "0000571936" "0" "10" "22" "37462936" "37462936" "subst" "0.566226" "02327" "TMPRSS6_000054" "g.37462936A>G" "" "" "" "TMPRSS6(NM_153609.4):c.2180T>C (p.V727A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37066896A>G" "" "benign" "" "0000571937" "0" "30" "22" "37463009" "37463009" "subst" "3.65955E-5" "01804" "KCTD17_000002" "g.37463009G>A" "" "" "" "TMPRSS6(NM_153609.2):c.2141-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37066969G>A" "" "likely benign" "" "0000571938" "0" "30" "22" "37465391" "37465391" "subst" "0" "01804" "TMPRSS6_000058" "g.37465391T>G" "" "" "" "TMPRSS6(NM_153609.2):c.1869-7A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37069351T>G" "" "likely benign" "" "0000571941" "0" "70" "22" "37466633" "37466633" "subst" "4.07548E-6" "02327" "TMPRSS6_000061" "g.37466633C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37070593C>A" "" "likely pathogenic" "" "0000571942" "0" "30" "22" "37466992" "37466992" "subst" "0.0124393" "01804" "TMPRSS6_000062" "g.37466992G>A" "" "" "" "TMPRSS6(NM_153609.2):c.1663C>T (p.(Pro555Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37070952G>A" "" "likely benign" "" "0000571943" "0" "30" "22" "37466994" "37466994" "subst" "0.00152337" "01804" "TMPRSS6_000063" "g.37466994C>T" "" "" "" "TMPRSS6(NM_153609.2):c.1661G>A (p.(Arg554Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37070954C>T" "" "likely benign" "" "0000571944" "0" "10" "22" "37469591" "37469591" "subst" "0.534709" "02327" "TMPRSS6_000055" "g.37469591G>A" "" "" "" "TMPRSS6(NM_153609.4):c.1536C>T (p.D512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37073551G>A" "" "benign" "" "0000571945" "0" "30" "22" "37470651" "37470651" "subst" "0.00194834" "01804" "TMPRSS6_000064" "g.37470651G>A" "" "" "" "TMPRSS6(NM_153609.2):c.1467C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37074611G>A" "" "likely benign" "" "0000571947" "0" "30" "22" "37480768" "37480768" "subst" "0" "01804" "TMPRSS6_000066" "g.37480768G>A" "" "" "" "TMPRSS6(NM_153609.2):c.1112C>T (p.(Thr371Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37084728G>A" "" "likely benign" "" "0000571948" "0" "30" "22" "37499277" "37499277" "subst" "0.000244069" "01804" "TMPRSS6_000067" "g.37499277C>G" "" "" "" "TMPRSS6(NM_153609.2):c.208G>C (p.(Val70Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37103237C>G" "" "likely benign" "" "0000571949" "0" "10" "22" "37499386" "37499386" "subst" "0.161732" "02327" "TMPRSS6_000056" "g.37499386C>T" "" "" "" "TMPRSS6(NM_153609.4):c.72G>A (p.P24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37103346C>T" "" "benign" "" "0000618586" "0" "50" "22" "37470715" "37470715" "subst" "0" "02327" "TMPRSS6_000069" "g.37470715C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37074675C>G" "" "VUS" "" "0000618587" "0" "90" "22" "37492065" "37492065" "del" "2.437E-5" "02327" "TMPRSS6_000051" "g.37492065del" "" "" "" "TMPRSS6(NM_001374504.1):c.470del (p.(Leu157Argfs*37)), TMPRSS6(NM_153609.3):c.497delT (p.L166Rfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37096025del" "" "pathogenic" "" "0000650967" "1" "10" "22" "37462173" "37462173" "subst" "0.00814378" "03575" "TMPRSS6_000057" "g.37462173C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139105452}" "Germline" "" "rs139105452" "0" "" "" "g.37066133C>T" "" "benign" "" "0000650968" "1" "50" "22" "37470640" "37470640" "subst" "0.0115205" "03575" "TMPRSS6_000070" "g.37470640G>A" "11/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous, no homozygous; {DB:CLININrs79816125}" "Germline" "" "rs79816125" "0" "" "" "g.37074600G>A" "" "VUS" "" "0000650969" "1" "30" "22" "37471208" "37471208" "subst" "0.00977005" "03575" "TMPRSS6_000065" "g.37471208G>A" "37/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "37 heterozygous, no homozygous; {DB:CLININrs117576908}" "Germline" "" "rs117576908" "0" "" "" "g.37075168G>A" "" "likely benign" "" "0000650970" "1" "50" "22" "37480861" "37480861" "subst" "0.000455812" "03575" "TMPRSS6_000071" "g.37480861G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs185482276}" "Germline" "" "rs185482276" "0" "" "" "g.37084821G>A" "" "VUS" "" "0000658948" "0" "30" "22" "37457647" "37457647" "subst" "0.000184562" "01943" "KCTD17_000003" "g.37457647C>T" "" "" "" "KCTD17(NM_001282684.1):c.874C>T (p.R292C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.37061607C>T" "" "likely benign" "" "0000681880" "0" "50" "22" "37482458" "37482458" "subst" "0.00101945" "01943" "TMPRSS6_000072" "g.37482458C>A" "" "" "" "TMPRSS6(NM_153609.3):c.865G>T (p.V289L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681881" "0" "30" "22" "37499275" "37499275" "subst" "0.000810023" "01943" "TMPRSS6_000073" "g.37499275C>T" "" "" "" "TMPRSS6(NM_153609.3):c.210G>A (p.V70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693183" "0" "50" "22" "37480775" "37480775" "subst" "0" "02327" "TMPRSS6_000074" "g.37480775G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728145" "0" "30" "22" "37466571" "37466571" "subst" "4.07156E-6" "02327" "TMPRSS6_000075" "g.37466571G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728146" "0" "30" "22" "37470651" "37470651" "subst" "0.00194834" "02327" "TMPRSS6_000064" "g.37470651G>A" "" "" "" "TMPRSS6(NM_153609.2):c.1467C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728147" "0" "90" "22" "37471220" "37471220" "subst" "4.06402E-6" "02327" "TMPRSS6_000025" "g.37471220C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728148" "0" "50" "22" "37485652" "37485652" "subst" "0" "02327" "TMPRSS6_000076" "g.37485652C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728149" "0" "10" "22" "37485724" "37485724" "subst" "0.381587" "02327" "TMPRSS6_000077" "g.37485724T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000809618" "0" "50" "22" "37480897" "37480897" "subst" "0.000319254" "02327" "TMPRSS6_000078" "g.37480897C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809619" "0" "90" "22" "37492065" "37492065" "del" "2.437E-5" "01943" "TMPRSS6_000051" "g.37492065del" "" "" "" "TMPRSS6(NM_001374504.1):c.470del (p.(Leu157Argfs*37)), TMPRSS6(NM_153609.3):c.497delT (p.L166Rfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000856158" "0" "50" "22" "37466675" "37466675" "subst" "0" "02327" "TMPRSS6_000079" "g.37466675G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895732" "0" "50" "22" "37457647" "37457647" "subst" "0.000184562" "02329" "KCTD17_000003" "g.37457647C>T" "" "" "" "KCTD17(NM_001282684.1):c.874C>T (p.R292C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895733" "0" "50" "22" "37465322" "37465322" "subst" "4.20985E-6" "02327" "TMPRSS6_000080" "g.37465322G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927169" "0" "50" "22" "37462912" "37462912" "subst" "3.25187E-5" "02327" "KCTD17_000007" "g.37462912C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927170" "0" "50" "22" "37471171" "37471171" "subst" "0" "02327" "TMPRSS6_000081" "g.37471171T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931291" "0" "70" "22" "37471316" "37471316" "subst" "8.19544E-6" "02327" "TMPRSS6_000082" "g.37471316A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000951607" "0" "50" "22" "37462173" "37462173" "subst" "0.00814378" "02325" "TMPRSS6_000057" "g.37462173C>T" "" "" "" "TMPRSS6(NM_153609.2):c.2383G>A (p.(Val795Ile)), TMPRSS6(NM_153609.4):c.2356G>A (p.V786I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951608" "0" "50" "22" "37494503" "37494503" "subst" "4.06055E-5" "02325" "TMPRSS6_000083" "g.37494503G>A" "" "" "" "TMPRSS6(NM_153609.4):c.289C>T (p.R97W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984211" "0" "30" "22" "37457225" "37457225" "subst" "0" "01804" "KCTD17_000009" "g.37457225C>A" "" "" "" "KCTD17(NM_001282684.1):c.805+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984212" "0" "50" "22" "37465187" "37465187" "subst" "0" "01804" "TMPRSS6_000084" "g.37465187A>G" "" "" "" "TMPRSS6(NM_001374504.1):c.2039T>C (p.(Leu680Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984213" "0" "50" "22" "37465309" "37465309" "subst" "4.19249E-6" "01804" "TMPRSS6_000085" "g.37465309G>A" "" "" "" "TMPRSS6(NM_001374504.1):c.1917C>T (p.(Ser639=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984214" "0" "50" "22" "37466989" "37466989" "subst" "1.22198E-5" "01804" "TMPRSS6_000086" "g.37466989C>T" "" "" "" "TMPRSS6(NM_001374504.1):c.1639G>A (p.(Asp547Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984215" "0" "50" "22" "37470676" "37470676" "subst" "4.06306E-6" "01804" "TMPRSS6_000087" "g.37470676G>A" "" "" "" "TMPRSS6(NM_001374504.1):c.1415C>T (p.(Pro472Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984216" "0" "30" "22" "37471311" "37471311" "subst" "0.000802687" "01804" "TMPRSS6_000088" "g.37471311G>A" "" "" "" "TMPRSS6(NM_001374504.1):c.1206C>T (p.(Gly402=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984217" "0" "70" "22" "37482322" "37482322" "subst" "0" "02327" "TMPRSS6_000089" "g.37482322C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984218" "0" "50" "22" "37482333" "37482333" "subst" "0.000264537" "01804" "TMPRSS6_000090" "g.37482333C>T" "" "" "" "TMPRSS6(NM_001374504.1):c.963G>A (p.(Val321=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984219" "0" "50" "22" "37482443" "37482443" "subst" "1.50352E-5" "01804" "TMPRSS6_000091" "g.37482443G>A" "" "" "" "TMPRSS6(NM_001374504.1):c.853C>T (p.(Arg285Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984220" "0" "30" "22" "37492013" "37492013" "subst" "0.00132431" "01804" "TMPRSS6_000092" "g.37492013G>A" "" "" "" "TMPRSS6(NM_001374504.1):c.522C>T (p.(Val174=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984221" "0" "50" "22" "37494484" "37494484" "subst" "4.46661E-5" "01804" "TMPRSS6_000093" "g.37494484C>A" "" "" "" "TMPRSS6(NM_001374504.1):c.308G>T (p.(Arg103Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984222" "0" "50" "22" "37494530" "37494530" "subst" "5.27876E-5" "01804" "TMPRSS6_000094" "g.37494530G>A" "" "" "" "TMPRSS6(NM_001374504.1):c.262C>T (p.(Arg88Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006049" "0" "10" "22" "37462926" "37462926" "subst" "0.360759" "02327" "TMPRSS6_000053" "g.37462926G>A" "" "" "" "TMPRSS6(NM_153609.4):c.2190C>T (p.Y730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006050" "0" "30" "22" "37465114" "37465114" "subst" "0.00937137" "02327" "TMPRSS6_000095" "g.37465114G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006051" "0" "30" "22" "37466962" "37466962" "subst" "0.000171222" "01804" "TMPRSS6_000096" "g.37466962G>A" "" "" "" "TMPRSS6(NM_153609.2):c.1693C>T (p.(His565Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006052" "0" "10" "22" "37470638" "37470638" "subst" "0.0184631" "02327" "TMPRSS6_000097" "g.37470638C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006053" "0" "10" "22" "37471290" "37471290" "subst" "0.0899229" "02327" "TMPRSS6_000098" "g.37471290G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006054" "0" "10" "22" "37480797" "37480797" "subst" "0.310939" "02327" "TMPRSS6_000099" "g.37480797C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006055" "0" "30" "22" "37492731" "37492731" "subst" "0.00025393" "01804" "TMPRSS6_000100" "g.37492731G>A" "" "" "" "TMPRSS6(NM_153609.2):c.388C>T (p.(Arg130Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006056" "0" "10" "22" "37499565" "37499565" "subst" "0.0211864" "02327" "TMPRSS6_000101" "g.37499565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043855" "0" "50" "22" "37462939" "37462939" "subst" "0" "01804" "KCTD17_000012" "g.37462939T>G" "" "" "" "TMPRSS6(NM_001374504.1):c.2177A>C (p.(Glu726Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043856" "0" "90" "22" "37492065" "37492065" "del" "2.437E-5" "01804" "TMPRSS6_000051" "g.37492065del" "" "" "" "TMPRSS6(NM_001374504.1):c.470del (p.(Leu157Argfs*37)), TMPRSS6(NM_153609.3):c.497delT (p.L166Rfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046818" "0" "10" "22" "37465094" "37465094" "subst" "0.0114989" "02327" "TMPRSS6_000102" "g.37465094G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046819" "0" "10" "22" "37491998" "37491998" "subst" "0.0145815" "02327" "TMPRSS6_000103" "g.37491998G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001057148" "0" "50" "22" "37466973" "37466973" "subst" "4.07385E-6" "01804" "TMPRSS6_000050" "g.37466973G>T" "" "" "" "TMPRSS6(NM_001374504.1):c.1655C>A (p.(Ser552Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067514" "0" "30" "22" "37466565" "37466565" "subst" "0.00726532" "02327" "TMPRSS6_000104" "g.37466565G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067515" "0" "50" "22" "37466665" "37466665" "subst" "2.04522E-5" "01804" "TMPRSS6_000105" "g.37466665C>T" "" "" "" "TMPRSS6(NM_001374504.1):c.1700G>A (p.(Arg567His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067516" "0" "50" "22" "37471211" "37471211" "subst" "0" "02327" "TMPRSS6_000106" "g.37471211C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067517" "0" "50" "22" "37485648" "37485650" "dup" "0" "01804" "TMPRSS6_000107" "g.37485648_37485650dup" "" "" "" "TMPRSS6(NM_001374504.1):c.804_806dup (p.(Ala269dup))" "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 TMPRSS6 ## Count = 164 "{{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}}" "0000046556" "00021508" "90" "1813" "0" "1813" "0" "c.1813del" "r.(?)" "p.(Ala605Profs*8)" "15" "0000046557" "00021508" "90" "704" "0" "704" "0" "c.704T>C" "r.(?)" "p.(Leu235Pro)" "7" "0000046558" "00021508" "90" "2293" "0" "2293" "0" "c.2293C>G" "r.(?)" "p.(Pro765Ala)" "18" "0000046559" "00021508" "70" "860" "0" "860" "0" "c.860C>A" "r.(?)" "p.(Thr287Asn)" "7" "0000046560" "00021508" "90" "2253" "0" "2254" "0" "c.2253_2254insT" "r.(?)" "p.(Lys752*)" "17" "0000046561" "00021508" "70" "860" "0" "860" "0" "c.860C>A" "r.(?)" "p.(Thr287Asn)" "7" "0000046562" "00021508" "90" "76" "0" "80" "0" "c.76_80del" "r.(?)" "p.(Gly26Trpfs*14)" "2" "0000046563" "00021508" "70" "1562" "0" "1562" "0" "c.1562A>G" "r.(?)" "p.(Asp521Gly)" "13" "0000046564" "00021508" "90" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Gln405*)" "10" "0000046565" "00021508" "90" "1714" "0" "1724" "0" "c.1714_1724del" "r.(?)" "p.(Gly572Profs*12)" "15" "0000046566" "00021508" "90" "1223" "1" "1223" "1" "c.1223+1G>A" "r.spl" "p.?" "11i" "0000046567" "00021508" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Trp590Arg)" "15" "0000046568" "00021508" "90" "188" "0" "188" "0" "c.188del" "r.(?)" "p.(Leu63Profs*14)" "2" "0000046569" "00021508" "90" "1004" "0" "1004" "0" "c.1004G>T" "r.(?)" "p.(Cys335Phe)" "9" "0000046570" "00021508" "90" "1789" "0" "1789" "0" "c.1789C>T" "r.(?)" "p.(Arg597Trp)" "15" "0000046571" "00021508" "90" "1468" "0" "1468" "3" "c.1468_1468+3dup" "r.spl" "p.?" "12_12i" "0000046572" "00021508" "90" "2101" "0" "2108" "0" "c.2101_2108dup" "r.(?)" "p.(Trp703Cysfs*28)" "16" "0000046573" "00021508" "90" "741" "0" "741" "0" "c.741G>T" "r.(?)" "p.(Trp247Cys)" "7" "0000046574" "00021508" "70" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ser304Leu)" "8" "0000046575" "00021508" "90" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Gly442A" "11" "0000046576" "00021508" "90" "2172" "0" "2173" "0" "c.2172_2173insCCCC" "r.(?)" "p.(Val725ProfsTer38)" "17" "0000046577" "00021508" "90" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Asp521Asn)" "13" "0000046578" "00021508" "90" "1001" "-586" "1146" "0" "c.1001-586_1146del" "r.spl" "p.?" "8i_10" "0000046579" "00021508" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "4" "0000046580" "00021508" "90" "635" "0" "635" "0" "c.635T>C" "r.(?)" "p.(Ile212Thr)" "6" "0000046581" "00021508" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ser304Leu)" "8" "0000046582" "00021508" "90" "1528" "0" "1528" "0" "c.1528T>A" "r.(?)" "p.(Cys510Ser)" "13" "0000046583" "00021508" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "4" "0000046584" "00021508" "90" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Leu674Phe)" "" "0000046585" "00021508" "90" "1807" "0" "1807" "0" "c.1807G>C" "r.(?)" "p.(Gly603Arg)" "15" "0000046586" "00021508" "90" "704" "0" "704" "0" "c.704T>C" "r.(?)" "p.(Leu235Pro)" "7" "0000046587" "00021508" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Glu114Lys)" "3" "0000046588" "00021508" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ser304Leu)" "8" "0000046589" "00021508" "90" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Gly442Arg)" "11" "0000046590" "00021508" "90" "1906" "0" "1907" "0" "c.1906_1907insGC" "r.(?)" "p.(Lys636Serfs*17)" "16" "0000046591" "00021508" "90" "1813" "0" "1813" "0" "c.1813del" "r.(?)" "p.(Ala605Profs*8)" "15" "0000046592" "00021508" "90" "1869" "-1" "1869" "-1" "c.1869-1G>C" "r.spl" "p.?" "15i" "0000046593" "00021508" "90" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Tyr355*)" "9" "0000046594" "00021508" "90" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Arg599*)" "15" "0000046595" "00021508" "90" "658" "1" "658" "1" "c.658+1G>C" "r.spl" "p.?" "6i" "0000046596" "00021508" "90" "496" "0" "496" "0" "c.496del" "r.(?)" "p.(Leu166*)" "5" "0000046597" "00021508" "90" "738" "0" "738" "0" "c.738del" "r.(?)" "p.(Trp247Glyfs*91)" "7" "0000046598" "00021508" "90" "1682" "0" "1682" "0" "c.1682C>A" "r.(?)" "p.(Ser561*)" "14" "0000046599" "00021508" "90" "497" "0" "497" "0" "c.497del" "r.(?)" "p.(Leu166Argfs*37)" "5" "0000046600" "00021508" "90" "1813" "0" "1813" "0" "c.1813del" "r.(?)" "p.(Ala605Profs*8)" "15" "0000046601" "00021508" "90" "658" "1" "658" "1" "c.658+1G>C" "r.spl" "p.?" "6i" "0000046602" "00021508" "90" "1813" "0" "1813" "0" "c.1813del" "r.(?)" "p.(Ala605Profs*8)" "15" "0000046603" "00021508" "90" "1253" "0" "1253" "0" "c.1253A>G" "r.(?)" "p.(Tyr418Cys)" "11" "0000046604" "00021508" "90" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Glu114Lys)" "3" "0000046605" "00021508" "90" "860" "0" "860" "0" "c.860C>A" "r.(?)" "p.(Thr287Asn)" "7" "0000046606" "00021508" "90" "2253" "0" "2254" "0" "c.2253_2254insT" "r.(?)" "p.(Lys752*)" "17" "0000046607" "00021508" "70" "860" "0" "860" "0" "c.860C>A" "r.(?)" "p.(Thr287Asn)" "7" "0000046608" "00021508" "90" "1817" "0" "1817" "0" "c.1817T>G" "r.(?)" "p.(Leu606Arg)" "15" "0000046609" "00021508" "90" "1562" "0" "1562" "0" "c.1562A>G" "r.(?)" "p.(Asp521Gly)" "13" "0000046610" "00021508" "90" "1868" "0" "1868" "0" "c.1868G>C" "r.(?)" "p.(Ser623Thr)" "15" "0000046611" "00021508" "90" "1714" "0" "1724" "0" "c.1714_1724del" "r.(?)" "p.(Gly572Profs*12)" "15" "0000046612" "00021508" "90" "1528" "0" "1528" "0" "c.1528T>C" "r.(?)" "p.(Cys510Arg)" "13" "0000046613" "00021508" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Trp590Arg)" "15" "0000046614" "00021508" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Trp590Arg)" "15" "0000046615" "00021508" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Trp590Arg)" "15" "0000046616" "00021508" "90" "1814" "0" "1814" "0" "c.1814C>G" "r.(?)" "p.(Ala605Gly)" "15" "0000046617" "00021508" "90" "1813" "0" "1813" "0" "c.1813del" "r.(?)" "p.(Ala605Profs*8)" "15" "0000046618" "00021508" "90" "2101" "0" "2108" "0" "c.2101_2108dup" "r.(?)" "p.(Trp703Cysfs*28)" "16" "0000046619" "00021508" "90" "741" "0" "741" "0" "c.741G>T" "r.(?)" "p.(Trp247Cys)" "7" "0000046620" "00021508" "90" "1768" "0" "1768" "0" "c.1768T>C" "r.(?)" "p.(Trp590Arg)" "15" "0000046621" "00021508" "90" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Asp521Asn)" "13" "0000046622" "00021508" "90" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "3" "0000046623" "00021508" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Glu522Lys)" "13" "0000046624" "00021508" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ser304Leu)" "8" "0000046625" "00021508" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "4" "0000046626" "00021508" "90" "812" "0" "812" "0" "c.812G>A" "r.(?)" "p.(Arg271Gln)" "7" "0000046627" "00021508" "90" "911" "0" "911" "0" "c.911C>T" "r.(?)" "p.(Ser304Leu)" "8" "0000046628" "00021508" "90" "1707" "0" "1708" "0" "c.1707_1708dup" "r.(?)" "p.(Leu570Profs*44)" "15" "0000046629" "00021508" "90" "422" "0" "422" "0" "c.422A>G" "r.(?)" "p.(Tyr141Cys)" "4" "0000046630" "00021508" "90" "1582" "1" "1582" "1" "c.1582+1G>A" "r.spl" "p.?" "13i" "0000046631" "00021508" "90" "863" "1" "863" "1" "c.863+1G>T" "r.spl" "p.?" "7i" "0000046632" "00021508" "90" "1253" "0" "1253" "0" "c.1253A>G" "r.(?)" "p.(Tyr418Cys)" "11" "0000046633" "00021508" "90" "2293" "0" "2293" "0" "c.2293C>G" "r.(?)" "p.(Pro765Ala)" "18" "0000046634" "00021508" "90" "1001" "-11" "1001" "-3" "c.1001-11_1001-3del" "r.spl" "p.?" "8i" "0000046635" "00021508" "90" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Glu522Lys)" "13" "0000046636" "00021508" "90" "1906" "0" "1907" "0" "c.1906_1907insGC" "r.(?)" "p.(Lys636Serfs*17)" "16" "0000046637" "00021508" "90" "1582" "1" "1582" "1" "c.1582+1G>A" "r.spl" "p.?" "13i" "0000046638" "00021508" "90" "1869" "-1" "1869" "-1" "c.1869-1G>C" "r.spl" "p.?" "15i" "0000046639" "00021508" "90" "1383" "0" "1383" "0" "c.1383del" "r.(?)" "p.(Glu461Aspfs*6)" "12" "0000046640" "00021508" "90" "1179" "0" "1179" "0" "c.1179T>G" "r.(?)" "p.(Tyr393*)" "10" "0000046641" "00021508" "90" "658" "1" "658" "1" "c.658+1G>C" "r.spl" "p.?" "6i" "0000046642" "00021508" "90" "685" "0" "685" "0" "c.685del" "r.(?)" "p.(Gln229Argfs*7)" "7" "0000046643" "00021508" "90" "738" "0" "738" "0" "c.738del" "r.(?)" "p.(Trp247Glyfs*91)" "7" "0000046644" "00021508" "90" "1682" "0" "1682" "0" "c.1682C>A" "r.(?)" "p.(Ser561*)" "14" "0000046645" "00021508" "90" "497" "0" "497" "0" "c.497del" "r.(?)" "p.(Leu166Argfs*37)" "5" "0000046646" "00021508" "90" "1813" "0" "1813" "0" "c.1813del" "r.(?)" "p.(Ala605Profs*8)" "15" "0000046647" "00021508" "90" "658" "1" "658" "1" "c.658+1G>C" "r.spl" "p.?" "6i" "0000046648" "00021508" "70" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Arg798Cys)" "18" "0000248944" "00021508" "10" "2207" "0" "2207" "0" "c.2207T>C" "r.(?)" "p.(Val736Ala)" "" "0000311908" "00021508" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Asp521=)" "" "0000311909" "00021508" "10" "2217" "0" "2217" "0" "c.2217C>T" "r.(?)" "p.(Tyr739=)" "" "0000311910" "00021508" "10" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Pro33=)" "" "0000350661" "00021508" "50" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Val795Ile)" "" "0000571935" "00021508" "30" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Val795Ile)" "" "0000571936" "00021508" "10" "2207" "0" "2207" "0" "c.2207T>C" "r.(?)" "p.(Val736Ala)" "" "0000571937" "00021508" "30" "2141" "-7" "2141" "-7" "c.2141-7C>T" "r.(=)" "p.(=)" "" "0000571938" "00021508" "30" "1869" "-7" "1869" "-7" "c.1869-7A>C" "r.(=)" "p.(=)" "" "0000571941" "00021508" "70" "1759" "0" "1759" "0" "c.1759G>T" "r.(?)" "p.(Glu587Ter)" "" "0000571942" "00021508" "30" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(Pro555Ser)" "" "0000571943" "00021508" "30" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Arg554Gln)" "" "0000571944" "00021508" "10" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Asp521=)" "" "0000571945" "00021508" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Cys489=)" "" "0000571947" "00021508" "30" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Met)" "" "0000571948" "00021508" "30" "208" "0" "208" "0" "c.208G>C" "r.(?)" "p.(Val70Leu)" "" "0000571949" "00021508" "10" "99" "0" "99" "0" "c.99G>A" "r.(?)" "p.(Pro33=)" "" "0000618586" "00021508" "50" "1403" "0" "1403" "0" "c.1403G>C" "r.(?)" "p.(Gly468Ala)" "" "0000618587" "00021508" "90" "497" "0" "497" "0" "c.497del" "r.(?)" "p.(Leu166ArgfsTer37)" "" "0000650967" "00021508" "10" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Val795Ile)" "" "0000650968" "00021508" "50" "1468" "10" "1468" "10" "c.1468+10C>T" "r.(=)" "p.(=)" "" "0000650969" "00021508" "30" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Trp)" "" "0000650970" "00021508" "50" "1019" "0" "1019" "0" "c.1019C>T" "r.(?)" "p.(Thr340Met)" "" "0000658948" "00021508" "30" "6909" "0" "6909" "0" "c.*4473G>A" "r.(=)" "p.(=)" "" "0000681880" "00021508" "50" "865" "0" "865" "0" "c.865G>T" "r.(?)" "p.(Val289Leu)" "" "0000681881" "00021508" "30" "210" "0" "210" "0" "c.210G>A" "r.(?)" "p.(Val70=)" "" "0000693183" "00021508" "50" "1105" "0" "1105" "0" "c.1105C>A" "r.(?)" "p.(His369Asn)" "" "0000728145" "00021508" "30" "1821" "0" "1821" "0" "c.1821C>T" "r.(?)" "p.(Ile607=)" "" "0000728146" "00021508" "30" "1467" "0" "1467" "0" "c.1467C>T" "r.(?)" "p.(Cys489=)" "" "0000728147" "00021508" "90" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Gly442Arg)" "" "0000728148" "00021508" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Val277Met)" "" "0000728149" "00021508" "10" "757" "0" "757" "0" "c.757A>G" "r.(?)" "p.(Lys253Glu)" "" "0000809618" "00021508" "50" "1001" "-18" "1001" "-18" "c.1001-18G>A" "r.(=)" "p.(=)" "" "0000809619" "00021508" "90" "497" "0" "497" "0" "c.497del" "r.(?)" "p.(Leu166ArgfsTer37)" "" "0000856158" "00021508" "50" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Pro573Ser)" "" "0000895732" "00021508" "50" "6909" "0" "6909" "0" "c.*4473G>A" "r.(=)" "p.(=)" "" "0000895733" "00021508" "50" "1931" "0" "1931" "0" "c.1931C>T" "r.(?)" "p.(Pro644Leu)" "" "0000927169" "00021508" "50" "2231" "0" "2231" "0" "c.2231G>A" "r.(?)" "p.(Arg744His)" "" "0000927170" "00021508" "50" "1369" "4" "1369" "4" "c.1369+4A>T" "r.spl?" "p.?" "" "0000931291" "00021508" "70" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Cys410Arg)" "" "0000951607" "00021508" "50" "2383" "0" "2383" "0" "c.2383G>A" "r.(?)" "p.(Val795Ile)" "" "0000951608" "00021508" "50" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Arg106Trp)" "" "0000984211" "00021508" "30" "7331" "0" "7331" "0" "c.*4895G>T" "r.(=)" "p.(=)" "" "0000984212" "00021508" "50" "2066" "0" "2066" "0" "c.2066T>C" "r.(?)" "p.(Leu689Pro)" "" "0000984213" "00021508" "50" "1944" "0" "1944" "0" "c.1944C>T" "r.(?)" "p.(=)" "" "0000984214" "00021508" "50" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Asp556Asn)" "" "0000984215" "00021508" "50" "1442" "0" "1442" "0" "c.1442C>T" "r.(?)" "p.(Pro481Leu)" "" "0000984216" "00021508" "30" "1233" "0" "1233" "0" "c.1233C>T" "r.(?)" "p.(=)" "" "0000984217" "00021508" "70" "1000" "1" "1000" "1" "c.1000+1G>T" "r.spl?" "p.?" "" "0000984218" "00021508" "50" "990" "0" "990" "0" "c.990G>A" "r.(?)" "p.(=)" "" "0000984219" "00021508" "50" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Cys)" "" "0000984220" "00021508" "30" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(=)" "" "0000984221" "00021508" "50" "335" "0" "335" "0" "c.335G>T" "r.(?)" "p.(Arg112Leu)" "" "0000984222" "00021508" "50" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(Arg97Cys)" "" "0001006049" "00021508" "10" "2217" "0" "2217" "0" "c.2217C>T" "r.(?)" "p.(Tyr739=)" "" "0001006050" "00021508" "30" "2139" "0" "2139" "0" "c.2139C>T" "r.(?)" "p.(=)" "" "0001006051" "00021508" "30" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(His565Tyr)" "" "0001006052" "00021508" "10" "1468" "12" "1468" "12" "c.1468+12G>A" "r.(=)" "p.(=)" "" "0001006053" "00021508" "10" "1254" "0" "1254" "0" "c.1254C>T" "r.(?)" "p.(=)" "" "0001006054" "00021508" "10" "1083" "0" "1083" "0" "c.1083G>A" "r.(?)" "p.(=)" "" "0001006055" "00021508" "30" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" "" "0001006056" "00021508" "10" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(=)" "" "0001043855" "00021508" "50" "2204" "0" "2204" "0" "c.2204A>C" "r.(?)" "p.(Glu735Ala)" "" "0001043856" "00021508" "90" "497" "0" "497" "0" "c.497del" "r.(?)" "p.(Leu166ArgfsTer37)" "" "0001046818" "00021508" "10" "2140" "19" "2140" "19" "c.2140+19C>T" "r.(=)" "p.(=)" "" "0001046819" "00021508" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(=)" "" "0001057148" "00021508" "50" "1682" "0" "1682" "0" "c.1682C>A" "r.(?)" "p.(Ser561*)" "" "0001067514" "00021508" "30" "1827" "0" "1827" "0" "c.1827C>T" "r.(?)" "p.(=)" "" "0001067515" "00021508" "50" "1727" "0" "1727" "0" "c.1727G>A" "r.(?)" "p.(Arg576His)" "" "0001067516" "00021508" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Val445Met)" "" "0001067517" "00021508" "50" "831" "0" "833" "0" "c.831_833dup" "r.(?)" "p.(Ala278dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 97 "{{screeningid}}" "{{variantid}}" "0000024119" "0000046556" "0000024119" "0000046602" "0000024120" "0000046557" "0000024120" "0000046603" "0000024121" "0000046558" "0000024121" "0000046604" "0000024122" "0000046559" "0000024122" "0000046605" "0000024123" "0000046560" "0000024123" "0000046606" "0000024124" "0000046561" "0000024124" "0000046607" "0000024125" "0000046562" "0000024125" "0000046608" "0000024126" "0000046563" "0000024126" "0000046609" "0000024127" "0000046564" "0000024127" "0000046610" "0000024128" "0000046565" "0000024128" "0000046611" "0000024129" "0000046566" "0000024129" "0000046612" "0000024130" "0000046567" "0000024130" "0000046613" "0000024131" "0000046568" "0000024131" "0000046614" "0000024132" "0000046569" "0000024132" "0000046615" "0000024133" "0000046570" "0000024133" "0000046616" "0000024134" "0000046571" "0000024134" "0000046617" "0000024135" "0000046572" "0000024135" "0000046618" "0000024136" "0000046573" "0000024136" "0000046619" "0000024137" "0000046574" "0000024137" "0000046620" "0000024138" "0000046575" "0000024138" "0000046621" "0000024139" "0000046576" "0000024139" "0000046622" "0000024140" "0000046577" "0000024140" "0000046623" "0000024141" "0000046578" "0000024141" "0000046624" "0000024142" "0000046579" "0000024142" "0000046625" "0000024143" "0000046580" "0000024143" "0000046626" "0000024144" "0000046581" "0000024144" "0000046627" "0000024145" "0000046582" "0000024145" "0000046628" "0000024146" "0000046583" "0000024146" "0000046629" "0000024147" "0000046584" "0000024147" "0000046630" "0000024148" "0000046585" "0000024148" "0000046631" "0000024149" "0000046586" "0000024149" "0000046632" "0000024150" "0000046587" "0000024150" "0000046633" "0000024151" "0000046588" "0000024151" "0000046634" "0000024152" "0000046589" "0000024152" "0000046635" "0000024153" "0000046590" "0000024153" "0000046636" "0000024154" "0000046591" "0000024154" "0000046637" "0000024155" "0000046592" "0000024155" "0000046638" "0000024156" "0000046593" "0000024156" "0000046639" "0000024157" "0000046594" "0000024157" "0000046640" "0000024158" "0000046595" "0000024158" "0000046641" "0000024159" "0000046596" "0000024159" "0000046642" "0000024160" "0000046597" "0000024160" "0000046643" "0000024161" "0000046598" "0000024161" "0000046644" "0000024162" "0000046599" "0000024162" "0000046645" "0000024163" "0000046600" "0000024163" "0000046646" "0000024164" "0000046601" "0000024164" "0000046647" "0000024165" "0000046648" "0000294278" "0000650967" "0000294279" "0000650968" "0000294280" "0000650969" "0000294281" "0000650970"