### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUPT5H) # 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}}" "SUPT5H" "suppressor of Ty 5 homolog (S. cerevisiae)" "19" "q13" "unknown" "NC_000019.9" "UD_132378782979" "" "https://www.LOVD.nl/SUPT5H" "" "1" "11469" "6829" "602102" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SUPT5H_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-17 16:39:47" "00000" "2025-11-01 13:22:20" ## 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}}" "00020577" "SUPT5H" "transcript variant 1" "004" "NM_003169.3" "" "NP_003160.2" "" "" "" "-243" "3535" "3264" "39936288" "39967310" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05669" "thal" "thalassemia" "" "" "" "" "" "00006" "2019-11-01 16:50:16" "00006" "2019-11-25 16:41:23" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SUPT5H" "05669" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00306736" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "4-generation family, 10 affected" "M" "" "Netherlands" "" "0" "" "" "" "Fam1PatII1" "00306737" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Netherlands" "" "0" "" "" "" "Fam1PatII2" "00306738" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "F" "" "Netherlands" "" "0" "" "" "" "Fam1PatII3" "00306739" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "F" "" "Netherlands" "" "0" "" "" "" "Fam1PatIII2" "00306740" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "F" "" "Netherlands" "" "0" "" "" "" "Fam1PatIII3" "00306741" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "F" "" "Netherlands" "" "0" "" "" "" "Fam1PatIII4" "00306742" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Netherlands" "" "0" "" "" "" "Fam1PatIV3" "00306743" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Netherlands" "" "0" "" "" "" "Fam1PatIV4" "00306744" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Netherlands" "" "0" "" "" "" "Fam1PatIV2" "00306747" "" "" "" "3" "" "01618" "{PMID:Achour 2020:32589702}" "2-generation family, 3 affected" "F" "" "Netherlands" "" "0" "" "" "" "Fam2PatI2" "00306748" "" "" "00306747" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "F" "" "Netherlands" "" "0" "" "" "" "Fam2PatII3" "00306749" "" "" "00306747" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Netherlands" "" "0" "" "" "" "Fam2PatII4" "00306750" "" "" "" "2" "" "01618" "{PMID:Achour 2020:32589702}" "2-generation family, affected father/son" "M" "" "Netherlands" "" "0" "" "" "" "PatWlt1" "00306751" "" "" "00306750" "1" "" "01618" "{PMID:Achour 2020:32589702}" "son" "M" "" "Netherlands" "" "0" "" "" "" "PatWlt2" "00306752" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Netherlands" "" "0" "" "" "" "PatLi" "00306753" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Netherlands" "" "0" "" "" "" "PatTW" "00306754" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "2-generation family, affected mother/daughter" "F" "" "France" "" "0" "" "" "" "PatS" "00306755" "" "" "" "1" "" "01618" "{PMID:Achour 2020:32589702}" "daughter" "F" "" "France" "" "0" "" "" "" "PatCl" "00306756" "" "" "" "4" "" "01618" "{PMID:Achour 2020:32589702}" "3-generation family, 4 affected" "F" "" "Greece" "" "0" "" "" "Crete" "Fam3PatI1" "00306757" "" "" "00306756" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "F" "" "Greece" "" "0" "" "" "Crete" "Fam3PatII2" "00306758" "" "" "00306756" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Greece" "" "0" "" "" "Crete" "Fam3PatII3" "00306759" "" "" "00306756" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Greece" "" "0" "" "" "Crete" "Fam3PatIII1" "00306760" "" "" "" "4" "" "01618" "{PMID:Achour 2020:32589702}" "3-generation family, 4 affected" "M" "" "Greece" "" "0" "" "" "" "Fam4PatIII1" "00306761" "" "" "00306760" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "M" "" "Greece" "" "0" "" "" "" "Fam4PatI1" "00306762" "" "" "00306760" "1" "" "01618" "{PMID:Achour 2020:32589702}" "" "F" "" "Greece" "" "0" "" "" "" "Fam4PatII2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00306736" "05669" "00306737" "05669" "00306738" "05669" "00306739" "05669" "00306740" "05669" "00306741" "05669" "00306742" "05669" "00306743" "05669" "00306744" "05669" "00306747" "05669" "00306748" "05669" "00306749" "05669" "00306750" "05669" "00306751" "05669" "00306752" "05669" "00306753" "05669" "00306754" "05669" "00306755" "05669" "00306756" "05669" "00306757" "05669" "00306758" "05669" "00306759" "05669" "00306760" "05669" "00306761" "05669" "00306762" "05669" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05669 ## Count = 25 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000232565" "05669" "00306736" "01618" "Familial, autosomal dominant" "66y" "hemoglobin 111 (g/L), hematocrite 0.40 (L/L), mean cellular volume 91fl, mean corpuscular haemoglobin 25.3 pg, HBA2 5.1%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232566" "05669" "00306737" "01618" "Familial, autosomal dominant" "65y" "HBA2 5.7%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232567" "05669" "00306738" "01618" "Familial, autosomal dominant" "62y" "hemoglobin 108 (g/L), hematocrite 0.32 (L/L), mean cellular volume 84fl, mean corpuscular haemoglobin 28.0 pg, HBA2 5.7%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232568" "05669" "00306739" "01618" "Familial, autosomal dominant" "42y" "hemoglobin 111 (g/L), hematocrite 0.35 (L/L), mean cellular volume 79fl, mean corpuscular haemoglobin 25.6 pg, HBA2 4.7%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232569" "05669" "00306740" "01618" "Familial, autosomal dominant" "40y" "hemoglobin 116 (g/L), hematocrite 0.33 (L/L), mean cellular volume 79fl, mean corpuscular haemoglobin 25.4 pg, HBA2 4.8%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232570" "05669" "00306741" "01618" "Familial, autosomal dominant" "3y" "Ht 0.37 (L/L), mean cellular volume 82fl, mean corpuscular haemoglobin - pg, HBA2 5.5%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232571" "05669" "00306742" "01618" "Familial, autosomal dominant" "12y" "hemoglobin 95 (g/L), hematocrite 0.31 (L/L), mean cellular volume 71fl, mean corpuscular haemoglobin 21.6 pg, HBA2 5.2%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232572" "05669" "00306743" "01618" "Familial, autosomal dominant" "12y" "hemoglobin 114 (g/L), hematocrite 0.35 (L/L), mean cellular volume 73fl, mean corpuscular haemoglobin 24.2 pg, HBA2 5.2%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232573" "05669" "00306744" "01618" "Familial, autosomal dominant" "15y" "hemoglobin 140 (g/L), hematocrite 0.40 (L/L), mean cellular volume 73fl, mean corpuscular haemoglobin 22.9 pg, HBA2 5.7%" "" "" "" "" "" "" "thal, beta;thal, alpha" "alph/beta-thalassemia" "0000232576" "05669" "00306747" "01618" "Familial, autosomal dominant" "46y" "hemoglobin 136 (g/L), hematocrite 0.39 (L/L), mean cellular volume 77fl, mean corpuscular haemoglobin 27.7 pg, HBA2 5.0%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232577" "05669" "00306748" "01618" "Familial, autosomal dominant" "16y" "hemoglobin 135 (g/L), hematocrite 0.41 (L/L), mean cellular volume 77fl, mean corpuscular haemoglobin 25.8 pg, HBA2 4.7%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232578" "05669" "00306749" "01618" "Familial, autosomal dominant" "11y" "hemoglobin 134 (g/L), hematocrite 0.39 (L/L), mean cellular volume 72fl, mean corpuscular haemoglobin 24.2 pg, HBA2 4.9%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232579" "05669" "00306750" "01618" "Familial, autosomal dominant" "65y" "hemoglobin 121 (g/L), hematocrite 0.35 (L/L), mean cellular volume 77fl, mean corpuscular haemoglobin 26.2 pg, HBA2 5.3%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232580" "05669" "00306751" "01618" "Familial, autosomal dominant" "39y" "hemoglobin 138 (g/L), hematocrite 0.43 (L/L), mean cellular volume 76fl, mean corpuscular haemoglobin 24.5 pg, HBA2 5.1%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232581" "05669" "00306752" "01618" "Familial, autosomal dominant" "54y" "hemoglobin 148 (g/L), hematocrite 0.46 (L/L), mean cellular volume 80fl, mean corpuscular haemoglobin 25.8 pg, HBA2 4.7%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232582" "05669" "00306753" "01618" "Familial, autosomal dominant" "6y" "hemoglobin 113 (g/L), hematocrite 0.38 (L/L), mean cellular volume 79fl, mean corpuscular haemoglobin 23.7 pg, HBA2 5.2%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232583" "05669" "00306754" "01618" "Familial, autosomal dominant" "46y" "hemoglobin 140 (g/L), mean cellular volume 78fl, mean corpuscular haemoglobin 25.4 pg, HBA2 4.8%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232584" "05669" "00306755" "01618" "Familial, autosomal dominant" "17y" "hemoglobin 123 (g/L), mean cellular volume 71fl, mean corpuscular haemoglobin 22.2 pg, HBA2 5.2%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232585" "05669" "00306756" "01618" "Familial, autosomal dominant" "" "hemoglobin 97 (g/L), hematocrite 0.32 (L/L), mean cellular volume 57fl, mean corpuscular haemoglobin 17.1 pg, HBA2 8.5%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232586" "05669" "00306757" "01618" "Familial, autosomal dominant" "" "hemoglobin 97 (g/L), hematocrite 0.31 (L/L), mean cellular volume 57fl, mean corpuscular haemoglobin 17.7 pg, HBA2 11.1%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232587" "05669" "00306758" "01618" "Familial, autosomal dominant" "" "hemoglobin 149 (g/L), hematocrite 0.44 (L/L), mean cellular volume 75fl, mean corpuscular haemoglobin 25.3 pg, HBA2 5.0%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232588" "05669" "00306759" "01618" "Familial, autosomal dominant" "" "hemoglobin 121 (g/L), hematocrite 0.36 (L/L), mean cellular volume 70fl, mean corpuscular haemoglobin 23.1 pg, HBA2 5.3%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232589" "05669" "00306760" "01618" "Familial, autosomal dominant" "2y" "hemoglobin 102 (g/L), hematocrite 0.31 (L/L), mean cellular volume 46fl, mean corpuscular haemoglobin 15.0 pg, HBA2 12.4%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232590" "05669" "00306761" "01618" "Familial, autosomal dominant" "58y" "hemoglobin 127 (g/L), hematocrite 0.40 (L/L), mean cellular volume 75fl, mean corpuscular haemoglobin 23.7 pg, HBA2 5.2%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" "0000232591" "05669" "00306762" "01618" "Familial, autosomal dominant" "33y" "hemoglobin 119 (g/L), hematocrite 0.36 (L/L), mean cellular volume 69fl, mean corpuscular haemoglobin 22.5 pg, HBA2 5.8%" "" "" "" "" "" "" "thal, beta" "beta-thalassemia" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000307871" "00306736" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307872" "00306737" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307873" "00306738" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307874" "00306739" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307875" "00306740" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307876" "00306741" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307877" "00306742" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307878" "00306743" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307879" "00306744" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307882" "00306747" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307883" "00306748" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307884" "00306749" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "MLPA;SEQ" "DNA" "" "" "0000307885" "00306750" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307886" "00306751" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307887" "00306752" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307888" "00306753" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307889" "00306754" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307890" "00306755" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307891" "00306756" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307892" "00306757" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307893" "00306758" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307894" "00306759" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307895" "00306760" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307896" "00306761" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" "0000307897" "00306762" "1" "01618" "00006" "2020-07-17 16:11:41" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{geneid}}" "0000307871" "HBA2" "0000307871" "HBB" "0000307871" "SUPT5H" "0000307872" "HBA2" "0000307872" "HBB" "0000307872" "SUPT5H" "0000307873" "HBA2" "0000307873" "HBB" "0000307873" "SUPT5H" "0000307874" "HBA2" "0000307874" "HBB" "0000307874" "SUPT5H" "0000307875" "HBA2" "0000307875" "HBB" "0000307875" "SUPT5H" "0000307876" "HBA2" "0000307876" "HBB" "0000307876" "SUPT5H" "0000307877" "HBA2" "0000307877" "HBB" "0000307877" "SUPT5H" "0000307878" "HBA2" "0000307878" "HBB" "0000307878" "SUPT5H" "0000307879" "HBA2" "0000307879" "HBB" "0000307879" "SUPT5H" "0000307882" "HBA2" "0000307882" "HBB" "0000307882" "SUPT5H" "0000307883" "HBA2" "0000307883" "HBB" "0000307883" "SUPT5H" "0000307884" "HBA2" "0000307884" "HBB" "0000307884" "SUPT5H" "0000307885" "HBA2" "0000307885" "HBB" "0000307885" "SUPT5H" "0000307886" "HBA2" "0000307886" "HBB" "0000307886" "SUPT5H" "0000307887" "HBA2" "0000307887" "HBB" "0000307887" "SUPT5H" "0000307888" "HBA2" "0000307888" "HBB" "0000307888" "SUPT5H" "0000307889" "HBA2" "0000307889" "HBB" "0000307889" "SUPT5H" "0000307890" "HBA2" "0000307890" "HBB" "0000307890" "SUPT5H" "0000307891" "HBA2" "0000307891" "HBB" "0000307891" "SUPT5H" "0000307892" "HBA2" "0000307892" "HBB" "0000307892" "SUPT5H" "0000307893" "HBA2" "0000307893" "HBB" "0000307893" "SUPT5H" "0000307894" "HBA2" "0000307894" "HBB" "0000307894" "SUPT5H" "0000307895" "HBA2" "0000307895" "HBB" "0000307895" "SUPT5H" "0000307896" "HBA2" "0000307896" "HBB" "0000307896" "SUPT5H" "0000307897" "HBA2" "0000307897" "HBB" "0000307897" "SUPT5H" ## 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 = 36 "{{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}}" "0000326478" "0" "30" "19" "39955696" "39955696" "subst" "0.00409856" "01804" "SUPT5H_000003" "g.39955696G>A" "" "" "" "SUPT5H(NM_001111020.2):c.876+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39465056G>A" "" "likely benign" "" "0000567319" "0" "50" "19" "39959798" "39959798" "subst" "4.0619E-6" "01804" "SUPT5H_000007" "g.39959798T>C" "" "" "" "SUPT5H(NM_001111020.2):c.1223T>C (p.(Val408Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39469158T>C" "" "VUS" "" "0000567321" "0" "30" "19" "39961167" "39961167" "subst" "0.00160646" "01804" "SUPT5H_000009" "g.39961167T>C" "" "" "" "SUPT5H(NM_001111020.2):c.1677+4T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39470527T>C" "" "likely benign" "" "0000567324" "0" "30" "19" "39963758" "39963758" "subst" "0.000209549" "01804" "SUPT5H_000012" "g.39963758C>T" "" "" "" "SUPT5H(NM_001111020.2):c.2258+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39473118C>T" "" "likely benign" "" "0000567325" "0" "30" "19" "39964866" "39964866" "subst" "0.00152945" "01804" "SUPT5H_000013" "g.39964866C>T" "" "" "" "SUPT5H(NM_001111020.2):c.2652-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39474226C>T" "" "likely benign" "" "0000567328" "0" "30" "19" "39971519" "39971519" "subst" "0.00310234" "01804" "SUPT5H_000016" "g.39971519C>G" "" "" "" "TIMM50(NM_001001563.1):c.335C>G (p.(Ser112Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39480879C>G" "" "likely benign" "" "0000674686" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674687" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674688" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674689" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674690" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674691" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674692" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674693" "1" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674694" "21" "90" "19" "39949714" "39949714" "subst" "0" "01618" "SUPT5H_000001" "g.39949714G>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39459074G>A" "" "pathogenic (dominant)" "" "0000674697" "1" "90" "19" "39963840" "39963840" "subst" "0" "01618" "SUPT5H_000022" "g.39963840C>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39473200C>A" "" "pathogenic (dominant)" "" "0000674698" "1" "90" "19" "39963840" "39963840" "subst" "0" "01618" "SUPT5H_000022" "g.39963840C>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39473200C>A" "" "pathogenic (dominant)" "" "0000674699" "1" "90" "19" "39963840" "39963840" "subst" "0" "01618" "SUPT5H_000022" "g.39963840C>A" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39473200C>A" "" "pathogenic (dominant)" "" "0000674700" "1" "90" "19" "39963077" "39963077" "del" "0" "01618" "SUPT5H_000021" "g.39963077del" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39472437del" "" "pathogenic (dominant)" "" "0000674701" "1" "90" "19" "39963077" "39963077" "del" "0" "01618" "SUPT5H_000021" "g.39963077del" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39472437del" "" "pathogenic (dominant)" "" "0000674702" "1" "90" "19" "39962101" "39962104" "del" "0" "01618" "SUPT5H_000020" "g.39962101_39962104del" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39471461_39471464del" "" "pathogenic (dominant)" "" "0000674703" "1" "90" "19" "39964947" "39964947" "del" "0" "01618" "SUPT5H_000023" "g.39964947del" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39474307del" "" "pathogenic (dominant)" "" "0000674704" "1" "90" "19" "39955630" "39955630" "del" "0" "01618" "SUPT5H_000018" "g.39955630del" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39464990del" "" "pathogenic (dominant)" "" "0000674705" "1" "90" "19" "39955630" "39955630" "del" "0" "01618" "SUPT5H_000018" "g.39955630del" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39464990del" "" "pathogenic (dominant)" "" "0000674706" "1" "90" "19" "39960040" "39960040" "subst" "0" "01618" "SUPT5H_000019" "g.39960040T>C" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39469400T>C" "" "pathogenic (dominant)" "" "0000674707" "1" "90" "19" "39960040" "39960040" "subst" "0" "01618" "SUPT5H_000019" "g.39960040T>C" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39469400T>C" "" "pathogenic (dominant)" "" "0000674708" "1" "90" "19" "39960040" "39960040" "subst" "0" "01618" "SUPT5H_000019" "g.39960040T>C" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39469400T>C" "" "pathogenic (dominant)" "" "0000674709" "1" "90" "19" "39960040" "39960040" "subst" "0" "01618" "SUPT5H_000019" "g.39960040T>C" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39469400T>C" "" "pathogenic (dominant)" "" "0000674710" "21" "90" "19" "39962060" "39962063" "dup" "0" "01618" "SUPT5H_000017" "g.39962060_39962063dup" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39471420_39471423dup" "" "pathogenic (dominant)" "" "0000674711" "1" "90" "19" "39962060" "39962063" "dup" "0" "01618" "SUPT5H_000017" "g.39962060_39962063dup" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39471420_39471423dup" "" "pathogenic (dominant)" "" "0000674712" "1" "90" "19" "39962060" "39962063" "dup" "0" "01618" "SUPT5H_000017" "g.39962060_39962063dup" "" "{PMID:Achour 2020:32589702}" "" "" "" "Germline" "" "" "0" "" "" "g.39471420_39471423dup" "" "pathogenic (dominant)" "" "0000866120" "0" "70" "19" "39948381" "39948381" "subst" "0" "01804" "SUPT5H_000024" "g.39948381G>A" "" "" "" "SUPT5H(NM_003169.3):c.307+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000866121" "0" "70" "19" "39959747" "39959748" "del" "0" "01804" "SUPT5H_000025" "g.39959747_39959748del" "" "" "" "SUPT5H(NM_003169.3):c.1168_1169del (p.(Ser391*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983456" "0" "70" "19" "39964910" "39964910" "del" "0" "01804" "SUPT5H_000026" "g.39964910del" "" "" "" "SUPT5H(NM_001111020.3):c.2688del (p.(Ser897ProfsTer57))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042946" "0" "70" "19" "39963554" "39963554" "del" "0" "01804" "SUPT5H_000027" "g.39963554del" "" "" "" "SUPT5H(NM_001111020.3):c.2140del (p.(Gln714Argfs*11))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001056659" "0" "50" "19" "39950599" "39950599" "subst" "4.87706E-5" "01804" "SUPT5H_000028" "g.39950599C>T" "" "" "" "SUPT5H(NM_001111020.3):c.623C>T (p.(Thr208Met))" "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 SUPT5H ## Count = 36 "{{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}}" "0000326478" "00020577" "30" "876" "7" "876" "7" "c.876+7G>A" "r.(=)" "p.(=)" "" "0000567319" "00020577" "50" "1223" "0" "1223" "0" "c.1223T>C" "r.(?)" "p.(Val408Ala)" "" "0000567321" "00020577" "30" "1677" "4" "1677" "4" "c.1677+4T>C" "r.spl?" "p.?" "" "0000567324" "00020577" "30" "2258" "4" "2258" "4" "c.2258+4C>T" "r.spl?" "p.?" "" "0000567325" "00020577" "30" "2652" "-8" "2652" "-8" "c.2652-8C>T" "r.(=)" "p.(=)" "" "0000567328" "00020577" "30" "7744" "0" "7744" "0" "c.*4480C>G" "r.(=)" "p.(=)" "" "0000674686" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674687" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674688" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674689" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674690" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674691" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674692" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674693" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674694" "00020577" "90" "458" "1" "458" "1" "c.458+1G>A" "r.459_459ins[a;458+2_459-1]" "p.Asp176*" "" "0000674697" "00020577" "90" "2259" "-3" "2259" "-3" "c.2259-3C>A" "r.2258_2259ins[2258+1_2259-4;aag]" "p.Val753_Gly744insYGRGLGRARVGLARQ*" "" "0000674698" "00020577" "90" "2259" "-3" "2259" "-3" "c.2259-3C>A" "r.2258_2259ins[2258+1_2259-4;aag]" "p.Val753_Gly744insYGRGLGRARVGLARQ*" "" "0000674699" "00020577" "90" "2259" "-3" "2259" "-3" "c.2259-3C>A" "r.2258_2259ins[2258+1_2259-4;aag]" "p.Val753_Gly744insYGRGLGRARVGLARQ*" "" "0000674700" "00020577" "90" "1979" "0" "1979" "0" "c.1979del" "r.(?)" "p.(Gly660Valfs*6)" "" "0000674701" "00020577" "90" "1979" "0" "1979" "0" "c.1979del" "r.(?)" "p.(Gly660Valfs*6)" "" "0000674702" "00020577" "90" "1782" "0" "1785" "0" "c.1782_1785del" "r.(?)" "p.(Ile594Metlfs*2)" "" "0000674703" "00020577" "90" "2725" "0" "2725" "0" "c.2725del" "r.(?)" "p.(Gln909Argfs*45)" "" "0000674704" "00020577" "90" "817" "0" "817" "0" "c.817del" "r.(?)" "p.(Leu273*)" "" "0000674705" "00020577" "90" "817" "0" "817" "0" "c.817del" "r.(?)" "p.(Leu273*)" "" "0000674706" "00020577" "90" "1374" "2" "1374" "2" "c.1374+2T>C" "r.spl" "p.?" "" "0000674707" "00020577" "90" "1374" "2" "1374" "2" "c.1374+2T>C" "r.spl" "p.?" "" "0000674708" "00020577" "90" "1374" "2" "1374" "2" "c.1374+2T>C" "r.spl" "p.?" "" "0000674709" "00020577" "90" "1374" "2" "1374" "2" "c.1374+2T>C" "r.spl" "p.?" "" "0000674710" "00020577" "90" "1741" "0" "1744" "0" "c.1741_1744dup" "r.(?)" "p.(Arg582Glnfs*21)" "" "0000674711" "00020577" "90" "1741" "0" "1744" "0" "c.1741_1744dup" "r.(?)" "p.(Arg582Glnfs*21)" "" "0000674712" "00020577" "90" "1741" "0" "1744" "0" "c.1741_1744dup" "r.(?)" "p.(Arg582Glnfs*21)" "" "0000866120" "00020577" "70" "307" "1" "307" "1" "c.307+1G>A" "r.spl?" "p.?" "" "0000866121" "00020577" "70" "1172" "0" "1173" "0" "c.1172_1173del" "r.(?)" "p.(Ser391*)" "" "0000983456" "00020577" "70" "2688" "0" "2688" "0" "c.2688del" "r.(?)" "p.(Ser897Profs*57)" "" "0001042946" "00020577" "70" "2140" "0" "2140" "0" "c.2140del" "r.(?)" "p.(Gln714Argfs*11)" "" "0001056659" "00020577" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Thr208Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{screeningid}}" "{{variantid}}" "0000307871" "0000674686" "0000307872" "0000674687" "0000307873" "0000674688" "0000307874" "0000674689" "0000307875" "0000674690" "0000307876" "0000674691" "0000307877" "0000674692" "0000307878" "0000674693" "0000307879" "0000674694" "0000307882" "0000674697" "0000307883" "0000674698" "0000307884" "0000674699" "0000307885" "0000674700" "0000307886" "0000674701" "0000307887" "0000674702" "0000307888" "0000674703" "0000307889" "0000674704" "0000307890" "0000674705" "0000307891" "0000674706" "0000307892" "0000674707" "0000307893" "0000674708" "0000307894" "0000674709" "0000307895" "0000674710" "0000307896" "0000674711" "0000307897" "0000674712"