### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HBG1) # 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}}" "HBG1" "hemoglobin, gamma A" "11" "p15.5" "unknown" "NG_000007.3" "UD_132118572263" "" "https://www.LOVD.nl/HBG1" "HbVar - human hemoglobin variants and thalassemias \r\nThe Globin Gene Server " "1" "4831" "3047" "142200" "1" "1" "1" "1" "Establishment of the database 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/HBG1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-11-06 00:00:00" "00006" "2017-05-24 09:19:45" "00000" "2023-04-16 21:50:28" ## 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}}" "00009176" "HBG1" "hemoglobin, gamma A" "001" "NM_000559.2" "" "NP_000550.2" "" "" "" "-53" "531" "444" "5271087" "5269502" "" "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}}" "01363" "HBFQTL1" "hemoglobin, fetal, quantitative trait locus 1 (HBFQTL-1)" "AD" "141749" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 2 "{{geneid}}" "{{diseaseid}}" "HBG1" "01363" "HBG1" "05669" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00268977" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268978" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268979" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268980" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268981" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268982" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268983" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268984" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268985" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268986" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268987" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268988" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268989" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268990" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268991" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268992" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268993" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268994" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268995" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268996" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268997" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268998" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00268999" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269000" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269001" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269002" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269003" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269004" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269005" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269006" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269007" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269008" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269009" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269010" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269011" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269012" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269013" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269014" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269015" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269016" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269017" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269018" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269019" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269020" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269021" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269022" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269023" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269024" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269025" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269026" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269027" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269028" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269029" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269030" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269031" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 55 "{{individualid}}" "{{diseaseid}}" "00268977" "05669" "00268978" "05669" "00268979" "05669" "00268980" "05669" "00268981" "05669" "00268982" "05669" "00268983" "05669" "00268984" "05669" "00268985" "05669" "00268986" "05669" "00268987" "05669" "00268988" "05669" "00268989" "05669" "00268990" "05669" "00268991" "05669" "00268992" "05669" "00268993" "05669" "00268994" "05669" "00268995" "05669" "00268996" "05669" "00268997" "05669" "00268998" "05669" "00268999" "05669" "00269000" "05669" "00269001" "05669" "00269002" "05669" "00269003" "05669" "00269004" "05669" "00269005" "05669" "00269006" "05669" "00269007" "05669" "00269008" "05669" "00269009" "05669" "00269010" "05669" "00269011" "05669" "00269012" "05669" "00269013" "05669" "00269014" "05669" "00269015" "05669" "00269016" "05669" "00269017" "05669" "00269018" "05669" "00269019" "05669" "00269020" "05669" "00269021" "05669" "00269022" "05669" "00269023" "05669" "00269024" "05669" "00269025" "05669" "00269026" "05669" "00269027" "05669" "00269028" "05669" "00269029" "05669" "00269030" "05669" "00269031" "05669" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01363, 05669 ## Count = 55 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000206820" "05669" "00268977" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206821" "05669" "00268978" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206822" "05669" "00268979" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206823" "05669" "00268980" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206824" "05669" "00268981" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206825" "05669" "00268982" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206826" "05669" "00268983" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206827" "05669" "00268984" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206828" "05669" "00268985" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206829" "05669" "00268986" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206830" "05669" "00268987" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206831" "05669" "00268988" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206832" "05669" "00268989" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206833" "05669" "00268990" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206834" "05669" "00268991" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206835" "05669" "00268992" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206836" "05669" "00268993" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206837" "05669" "00268994" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206838" "05669" "00268995" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206839" "05669" "00268996" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206840" "05669" "00268997" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206841" "05669" "00268998" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206842" "05669" "00268999" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206843" "05669" "00269000" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206844" "05669" "00269001" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206845" "05669" "00269002" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206846" "05669" "00269003" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206847" "05669" "00269004" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206848" "05669" "00269005" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206849" "05669" "00269006" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206850" "05669" "00269007" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206851" "05669" "00269008" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206852" "05669" "00269009" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206853" "05669" "00269010" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206854" "05669" "00269011" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206855" "05669" "00269012" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206856" "05669" "00269013" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206857" "05669" "00269014" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206858" "05669" "00269015" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206859" "05669" "00269016" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206860" "05669" "00269017" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206861" "05669" "00269018" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206862" "05669" "00269019" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206863" "05669" "00269020" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206864" "05669" "00269021" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206865" "05669" "00269022" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206866" "05669" "00269023" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206867" "05669" "00269024" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206868" "05669" "00269025" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206869" "05669" "00269026" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206870" "05669" "00269027" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206871" "05669" "00269028" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "rare variant" "0000206872" "05669" "00269029" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206873" "05669" "00269030" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206874" "05669" "00269031" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000270106" "00268977" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270107" "00268978" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270108" "00268979" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270109" "00268980" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270110" "00268981" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270111" "00268982" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270112" "00268983" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270113" "00268984" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270114" "00268985" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270115" "00268986" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270116" "00268987" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270117" "00268988" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270118" "00268989" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270119" "00268990" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270120" "00268991" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270121" "00268992" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270122" "00268993" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270123" "00268994" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270124" "00268995" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270125" "00268996" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270126" "00268997" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270127" "00268998" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270128" "00268999" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270129" "00269000" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270130" "00269001" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270131" "00269002" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270132" "00269003" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270133" "00269004" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270134" "00269005" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270135" "00269006" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270136" "00269007" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270137" "00269008" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270138" "00269009" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270139" "00269010" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270140" "00269011" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270141" "00269012" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270142" "00269013" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270143" "00269014" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270144" "00269015" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270145" "00269016" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270146" "00269017" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270147" "00269018" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270148" "00269019" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270149" "00269020" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270150" "00269021" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270151" "00269022" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270152" "00269023" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270153" "00269024" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270154" "00269025" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270155" "00269026" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270156" "00269027" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270157" "00269028" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270158" "00269029" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270159" "00269030" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270160" "00269031" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{geneid}}" "0000270106" "HBG1" "0000270107" "HBG1" "0000270108" "HBG1" "0000270109" "HBG1" "0000270110" "HBG1" "0000270111" "HBG1" "0000270112" "HBG1" "0000270113" "HBG1" "0000270114" "HBG1" "0000270115" "HBG1" "0000270116" "HBG1" "0000270117" "HBG1" "0000270118" "HBG1" "0000270119" "HBG1" "0000270120" "HBG1" "0000270121" "HBG1" "0000270122" "HBG1" "0000270123" "HBG1" "0000270124" "HBG1" "0000270125" "HBG1" "0000270126" "HBG1" "0000270127" "HBG1" "0000270128" "HBG1" "0000270129" "HBG1" "0000270130" "HBG1" "0000270131" "HBG1" "0000270132" "HBG1" "0000270133" "HBG1" "0000270134" "HBG1" "0000270135" "HBG1" "0000270136" "HBG1" "0000270137" "HBG1" "0000270138" "HBG1" "0000270139" "HBG1" "0000270140" "HBG1" "0000270141" "HBG1" "0000270142" "HBG1" "0000270143" "HBG1" "0000270144" "HBG1" "0000270145" "HBG1" "0000270146" "HBG1" "0000270147" "HBG1" "0000270148" "HBG1" "0000270149" "HBG1" "0000270150" "HBG1" "0000270151" "HBG1" "0000270152" "HBG1" "0000270153" "HBG1" "0000270154" "HBG1" "0000270155" "HBG1" "0000270156" "HBG1" "0000270157" "HBG1" "0000270158" "HBG1" "0000270159" "HBG1" "0000270160" "HBG1" ## 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 = 61 "{{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}}" "0000249157" "0" "10" "11" "5269586" "5269586" "del" "0" "02325" "HBG1_003003" "g.5269586del" "" "" "" "HBG1(NM_000559.3):c.*3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5248356del" "" "benign" "" "0000281231" "0" "10" "11" "5269584" "5269584" "subst" "0" "02325" "HBG1_003002" "g.5269584T>A" "" "" "" "HBG1(NM_000559.3):c.*5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5248354T>A" "" "benign" "" "0000281232" "0" "10" "11" "5269582" "5269582" "dup" "0" "02325" "HBG1_003001" "g.5269582dup" "" "" "" "HBG1(NM_000559.3):c.*7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5248352dup" "" "benign" "" "0000281233" "0" "10" "11" "5270686" "5270686" "subst" "0.34294" "02325" "HBG1_000639" "g.5270686G>A" "" "" "" "HBG1(NM_000559.3):c.227C>T (p.T76I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.5249456G>A" "" "benign" "" "0000544553" "0" "10" "11" "5274452" "5274453" "ins" "0.232143" "02325" "HBG1_003005" "g.5274452_5274453insT" "" "" "" "HBG2(NM_000184.3):c.*54_*55insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.5253222_5253223insT" "" "benign" "" "0000602843" "0" "70" "11" "5271026" "5271026" "subst" "0" "03464" "HBG1_000625" "g.5271026A>C" "" "{DB:HbVar619}, {OMIM142200:0035}, {EXP:003124}, {PMID:Plaseska:7928382}" "" "" "" "Germline" "" "rs35315638" "0" "" "" "g.5249796A>C" "" "VUS" "" "0000602844" "0" "70" "11" "5271019" "5271019" "subst" "0" "03464" "HBG1_000626" "g.5271019C>T" "" "{DB:HbVar620}, {OMIM142200:0020}, {EXP:003125}, {PMID:Keitt:2453112}, {PMID:Ahern:5038699}, {PMID:Jenkins:6019034}" "" "" "" "Germline" "" "rs34427034" "0" "" "" "g.5249789C>T" "" "VUS" "" "0000602845" "0" "70" "11" "5271015" "5271015" "subst" "0" "03464" "HBG1_000627" "g.5271015T>C" "" "{DB:HbVar621}, {OMIM142200:0012}, {EXP:003127}, {PMID:Wada:6197997}, {PMID:Yoshinaka:6175602}" "" "" "" "Germline" "" "rs34432567" "0" "" "" "g.5249785T>C" "" "VUS" "" "0000602846" "0" "70" "11" "5271016" "5271016" "subst" "0" "03464" "HBG1_000628" "g.5271016C>G" "" "{DB:HbVar622}, {OMIM142200:0017}, {EXP:003128}, {PMID:Nakatsuji:6183236}" "" "" "" "Germline" "" "rs33924825" "0" "" "" "g.5249786C>G" "" "VUS" "" "0000602847" "0" "70" "11" "5270997" "5270997" "subst" "0" "03464" "HBG1_000629" "g.5270997G>C" "" "{DB:HbVar623}, {OMIM142200:0005}, {EXP:003130}, {PMID:Nakatsuji:6199326}" "" "" "" "Germline" "" "rs33992775" "0" "" "" "g.5249767G>C" "" "VUS" "" "0000602848" "0" "70" "11" "5270967" "5270967" "subst" "6.1483E-5" "03464" "HBG1_000630" "g.5270967T>C" "" "{DB:HbVar624}, {OMIM142200:0015}, {EXP:003135}, {PMID:Luan Eng:4765089}" "" "" "" "Germline" "" "rs33970907" "0" "" "" "g.5249737T>C" "" "VUS" "" "0000602849" "0" "70" "11" "5270803" "5270803" "subst" "0" "03464" "HBG1_000631" "g.5270803G>C" "" "{DB:HbVar625}, {OMIM142200:0016}, {EXP:003141}, {PMID:Chen:2581920}" "" "" "" "Germline" "" "rs41404150" "0" "" "" "g.5249573G>C" "" "VUS" "" "0000602850" "0" "70" "11" "5270801" "5270801" "subst" "1.67163E-5" "03464" "HBG1_000632" "g.5270801A>C" "" "{DB:HbVar626}, {OMIM142200:0006}, {EXP:003142}, {PMID:Chen:2419280}" "" "" "" "Germline" "" "rs35700518" "0" "" "" "g.5249571A>C" "" "VUS" "" "0000602851" "0" "70" "11" "5270794" "5270794" "subst" "0" "03464" "HBG1_000633" "g.5270794T>C" "" "{DB:HbVar627}, {OMIM142200:0004}, {EXP:003143}, {PMID:Nakatsuji:6186637}" "" "" "" "Germline" "" "rs35977759" "0" "" "" "g.5249564T>C" "" "VUS" "" "0000602852" "0" "70" "11" "5270791" "5270791" "subst" "0" "03464" "HBG1_000634" "g.5270791C>T" "" "{DB:HbVar628}, {OMIM142200:0033}, {EXP:003145}, {PMID:Huisman:1802881}" "" "" "" "Germline" "" "rs33974602" "0" "" "" "g.5249561C>T" "" "VUS" "" "0000602853" "0" "70" "11" "5270752" "5270752" "subst" "0" "03464" "HBG1_000635" "g.5270752G>T" "" "{DB:HbVar629}, {OMIM142200:0003}, {EXP:003149}, {PMID:Chen:2417989}" "" "" "" "Germline" "" "rs35746147" "0" "" "" "g.5249522G>T" "" "VUS" "" "0000602854" "0" "70" "11" "5270729" "5270729" "subst" "1.37754E-5" "03464" "HBG1_000636" "g.5270729T>C" "" "{DB:HbVar630}, {OMIM142200:0013}, {EXP:003153}, {PMID:Ahern:5491586}" "" "" "" "Germline" "" "rs34747494" "0" "" "" "g.5249499T>C" "" "VUS" "" "0000602855" "0" "70" "11" "5270696" "5270696" "subst" "0" "03464" "HBG1_000637" "g.5270696C>G" "" "{DB:HbVar631}, {OMIM142200:0011}, {EXP:003158}, {PMID:Fuyuno:6163752}" "" "" "" "Germline" "" "rs34049890" "0" "" "" "g.5249466C>G" "" "VUS" "" "0000602856" "0" "70" "11" "5270693" "5270693" "subst" "0" "03464" "HBG1_000638" "g.5270693C>G" "" "{DB:HbVar632}, {OMIM142200:0023}, {EXP:003160}, {PMID:Ma:2448269}" "" "" "" "Germline" "" "rs33965337" "0" "" "" "g.5249463C>G" "" "VUS" "" "0000602857" "0" "70" "11" "5270686" "5270686" "subst" "0.34294" "03464" "HBG1_000639" "g.5270686G>A" "" "{DB:HbVar633}, {OMIM142200:0018}, {EXP:003161}, {PMID:Huisman:2412945}, {PMID:Huisman:904975}, {PMID:Grifoni:808940}" "" "" "" "Germline" "" "" "0" "" "" "g.5249456G>A" "" "VUS" "" "0000602858" "0" "70" "11" "5270675" "5270675" "subst" "0" "03464" "HBG1_000640" "g.5270675C>T" "" "{DB:HbVar634}, {OMIM142200:0007}, {EXP:003163}, {PMID:Al-Awamy:2411679}" "" "" "" "Germline" "" "rs34435255" "0" "" "" "g.5249445C>T" "" "VUS" "" "0000602859" "0" "70" "11" "5270672" "5270672" "subst" "0" "03464" "HBG1_000641" "g.5270672C>A" "" "{DB:HbVar635}, {OMIM142200:0021}, {EXP:003164}, {PMID:Ahern:1138921}" "" "" "" "Germline" "" "rs33947112" "0" "" "" "g.5249442C>A" "" "VUS" "" "0000602860" "0" "70" "11" "5270620" "5270620" "subst" "8.90194E-6" "03464" "HBG1_000642" "g.5270620T>C" "" "{DB:HbVar636}, {OMIM142200:0008}, {EXP:003168}" "" "" "" "Germline" "" "rs34127117" "0" "" "" "g.5249390T>C" "" "VUS" "" "0000602861" "0" "70" "11" "5269669" "5269669" "subst" "3.25293E-5" "03464" "HBG1_000643" "g.5269669C>T" "" "{DB:HbVar637}, {EXP:003173}, {PMID:Nakatsuji:2412617}, {PMID:Ahern:4710228}, {PMID:Sacker:6038320}" "" "" "" "Germline" "" "rs34647752" "0" "" "" "g.5248439C>T" "" "VUS" "" "0000602862" "0" "70" "11" "5269648" "5269648" "subst" "0" "03464" "HBG1_000644" "g.5269648C>T" "" "{DB:HbVar638}, {OMIM142200:0002}, {EXP:003175}, {PMID:Altay:2454900}" "" "" "" "Germline" "" "rs41330850" "0" "" "" "g.5248418C>T" "" "VUS" "" "0000602863" "0" "70" "11" "5269630" "5269630" "subst" "0" "03464" "HBG1_000645" "g.5269630C>T" "" "{DB:HbVar639}, {OMIM142200:0029}, {EXP:003177}, {PMID:Plaseska:1703137}" "" "" "" "Germline" "" "rs35849660" "0" "" "" "g.5248400C>T" "" "VUS" "" "0000602864" "0" "70" "11" "5271016" "5271016" "subst" "0" "03464" "HBG1_000646" "g.5271016C>T" "" "{DB:HbVar640}, {PMID:Larkin:5635604}" "" "" "" "Germline" "" "rs33924825" "0" "" "" "g.5249786C>T" "" "VUS" "" "0000602865" "0" "70" "11" "5270997" "5270997" "subst" "0" "03464" "HBG1_000647" "g.5270997G>T" "" "{DB:HbVar641}, {PMID:Loukopoulos:5763628}, {PMID:Vella:13622677}" "" "" "" "Germline" "" "rs33992775" "0" "" "" "g.5249767G>T" "" "VUS" "" "0000602866" "0" "70" "11" "5269706" "5269706" "subst" "0" "03464" "HBG1_000648" "g.5269706A>T" "" "{DB:HbVar642}," "" "" "" "Germline" "" "rs281860656" "0" "" "" "g.5248476A>T" "" "VUS" "" "0000602867" "0" "70" "11" "5270964" "5270966" "del" "0" "03464" "HBG1_000649" "g.5270964_5270966del" "" "{DB:HbVar643}, {PMID:Wajcman:8556453}" "" "70_72delGCT" "" "Germline" "" "rs34698907" "0" "" "" "g.5249734_5249736del" "" "VUS" "" "0000602868" "0" "70" "11" "5270959" "5270959" "subst" "0" "03464" "HBG1_000650" "g.5270959C>G" "" "{DB:HbVar644}, {OMIM142200:0022}, {EXP:003138}, {PMID:Hu:2448268}" "" "" "" "Germline" "" "rs35957832" "0" "" "" "g.5249729C>G" "" "VUS" "" "0000602869" "0" "70" "11" "5270783" "5270783" "subst" "0" "03464" "HBG1_000651" "g.5270783C>T" "" "{DB:HbVar645}, {OMIM142200:0010}, {EXP:003147}, {PMID:Hidaka:2467893}" "" "" "" "Germline" "" "rs41475844" "0" "" "" "g.5249553C>T" "" "VUS" "" "0000602870" "0" "70" "11" "5270693" "5270693" "subst" "0" "03464" "HBG1_000652" "g.5270693C>T" "" "{DB:HbVar646}, {OMIM142200:0009}, {EXP:003159}, {PMID:Chen:2416350}" "" "" "" "Germline" "" "rs33965337" "0" "" "" "g.5249463C>T" "" "VUS" "" "0000602871" "0" "70" "11" "5270672" "5270672" "subst" "0" "03464" "HBG1_000653" "g.5270672C>T" "" "{DB:HbVar647}, {OMIM142200:0024}, {EXP:003165}, {PMID:Nakatsuji:6198905}, {PMID:Fuyuno:6163752}, {PMID:Wada:2420697}" "" "" "" "Germline" "" "rs33947112" "0" "" "" "g.5249442C>T" "" "VUS" "" "0000602872" "0" "70" "11" "5269669" "5269669" "subst" "3.25293E-5" "03464" "HBG1_000654" "g.5269669C>T" "" "{DB:HbVar648}, {OMIM142200:0019}, {PMID:Care A:6188719}" "" "" "" "Germline" "" "" "0" "" "" "g.5248439C>T" "" "VUS" "" "0000602873" "0" "70" "11" "5271289" "5271289" "subst" "0" "03464" "HBG1_000655" "g.5271289G>A" "" "{DB:HbVar1007}, {PMID:Gilman:2455576}, {PMID:Hattori:2420750}" "" "-202 (C->T) Agamma" "" "Germline" "" "rs34619194" "0" "" "" "g.5250059G>A" "" "VUS" "" "0000602874" "0" "70" "11" "5271285" "5271285" "subst" "0" "03464" "HBG1_000656" "g.5271285A>G" "" "{DB:HbVar1009}, {OMIM142200:0028}, {PMID:Harvey:1373683}, {PMID:Donald:2458313}, {PMID:Tate:2430647}, {PMID:Weatherall:811241}" "" "-198 (T->C) Agamma" "" "Germline" "" "rs35710727" "0" "" "" "g.5250055A>G" "" "VUS" "" "0000602875" "0" "70" "11" "5271283" "5271283" "subst" "0" "03464" "HBG1_000657" "g.5271283G>A" "" "{DB:HbVar1010}, {OMIM142200:0027}, {PMID:Giglioni:6210198}" "" "-196 (C->T) Agamma" "" "Germline" "" "rs35983258" "0" "" "" "g.5250053G>A" "" "VUS" "" "0000602876" "0" "70" "11" "5271282" "5271282" "subst" "0" "03464" "HBG1_000658" "g.5271282G>C" "" "{DB:HbVar1011}, {OMIM142200:0030}, {PMID:Costa:2224140}" "" "-195 (C->G) Agamma" "" "Germline" "" "rs35321913" "0" "" "" "g.5250052G>C" "" "VUS" "" "0000602877" "0" "70" "11" "5271262" "5271262" "subst" "0" "03464" "HBG1_000659" "g.5271262A>G" "" "{DB:HbVar1013}, {PMID:Coleman:7679879}, {PMID:Stoming:2462941}" "" "-175 (T->C) Agamma" "" "Germline" "" "rs34153902" "0" "" "" "g.5250032A>G" "" "VUS" "" "0000602878" "0" "70" "11" "5271204" "5271204" "subst" "0" "03464" "HBG1_000660" "g.5271204C>T" "" "{DB:HbVar1014}, {OMIM142200:0026}, {PMID:Camaschella:2469505}, {PMID:Ottolenghi:2452784}, {PMID:Superti-Furga:3181130}, {PMID:Gelinas:2578619}" "" "-117 (G->A) Agamma" "" "Germline" "" "rs35378915" "0" "" "" "g.5249974C>T" "" "VUS" "" "0000602879" "0" "70" "11" "5271204" "5271204" "subst" "0" "03464" "HBG1_000661" "g.5271204C>T" "" "{DB:HbVar1015}, {PMID:Huang HJ:2441598}" "" "-117 (G->A) Agamma" "" "Germline" "" "" "0" "" "" "g.5249974C>T" "" "VUS" "" "0000602880" "0" "70" "11" "5271201" "5271201" "subst" "0" "03464" "HBG1_000662" "g.5271201G>A" "" "{DB:HbVar1018}, {OMIM142200:0031}, {PMID:Oner:1704803}" "" "-114 (C->T) Agamma" "" "Germline" "" "rs281860601" "0" "" "" "g.5249971G>A" "" "VUS" "" "0000602881" "0" "70" "11" "5271197" "5271209" "del" "0" "03464" "HBG1_000663" "g.5271197_5271209del" "" "{DB:HbVar1020}, {PMID:Gilman JG:2462713}" "" "-167_-155delCAATAGCCTTGAC" "13 bp deletion (-CAATAGCCTTGAC at -114 through -102)" "Germline" "" "rs63750509" "0" "" "" "g.5249967_5249979del" "" "VUS" "" "0000602882" "0" "70" "11" "5269669" "5269669" "subst" "0" "03464" "HBG1_000664" "g.5269669C>G" "" "{DB:HbVar1146}," "" "" "" "Germline" "" "rs34647752" "0" "" "" "g.5248439C>G" "" "VUS" "" "0000602883" "0" "70" "11" "5269623" "5269623" "subst" "0" "03464" "HBG1_000665" "g.5269623G>C" "" "{DB:HbVar1208}, {OMIM142200:0032}, {PMID:Plaseska:1714434}" "" "" "" "Germline" "" "rs56205611" "0" "" "" "g.5248393G>C" "" "VUS" "" "0000602884" "0" "70" "11" "5269624" "5269624" "subst" "8.12684E-6" "03464" "HBG1_000666" "g.5269624C>A" "" "{DB:HbVar1218}, {OMIM142200:0037}, {PMID:Pirastru:15666429}" "" "" "" "Germline" "" "rs63749797" "0" "" "" "g.5248394C>A" "" "VUS" "" "0000602885" "0" "70" "11" "5271245" "5271245" "subst" "0" "03464" "HBG1_000667" "g.5271245G>A" "" "{DB:HbVar2512}, {PMID:Patrinos GP:9703422}" "" "" "" "Germline" "" "rs41322148" "0" "" "" "g.5250015G>A" "" "VUS" "" "0000602886" "0" "70" "11" "5271298" "5271298" "subst" "0" "03464" "HBG1_000668" "g.5271298G>A" "" "{DB:HbVar2513}," "" "" "" "Germline" "" "rs63750033" "0" "" "" "g.5250068G>A" "" "VUS" "" "0000602887" "0" "70" "11" "5269637" "5269637" "subst" "4.06425E-6" "03464" "HBG1_001589" "g.5269637C>A" "" "{DB:HbVar2651}, Francina A (E-3974-2010);Joly P (E-4142-2010);" "" "" "" "Germline" "" "rs281864490" "0" "" "" "g.5248407C>A" "" "VUS" "" "0000602888" "0" "70" "11" "5270968" "5270968" "subst" "0" "03464" "HBG1_001590" "g.5270968C>T" "" "{DB:HbVar2652}, Francina A (E-3974-2010);Joly P (E-4142-2010);" "" "" "" "Germline" "" "rs281864491" "0" "" "" "g.5249738C>T" "" "VUS" "" "0000602889" "0" "70" "11" "5271284" "5271284" "subst" "0" "03464" "HBG1_001651" "g.5271284G>A" "" "{DB:HbVar2708}, Barnaby C (E-6612-2010);" "" "A Gamma -197 C>T" "" "Germline" "" "rs281864522" "0" "" "" "g.5250054G>A" "" "VUS" "" "0000602890" "0" "70" "11" "5269675" "5269675" "subst" "0" "03464" "HBG1_001714" "g.5269675C>T" "" "{DB:HbVar2788}, {PMID:Mereu:19958193}" "" "" "" "Germline" "" "rs281864567" "0" "" "" "g.5248445C>T" "" "VUS" "" "0000602891" "0" "70" "11" "5269668" "5269668" "subst" "0" "03464" "HBG1_001727" "g.5269668T>A" "" "{DB:HbVar2811}, Joly P; HbVar A-2391-2010;" "" "" "" "Germline" "" "rs281864577" "0" "" "" "g.5248438T>A" "" "VUS" "" "0000602892" "0" "70" "11" "5270638" "5270638" "subst" "5.12526E-6" "03464" "HBG1_001774" "g.5270638A>C" "" "{DB:HbVar2855}, JOLY P. (E-4142-2010);" "" "" "" "Germline" "" "" "0" "" "" "g.5249408A>C" "" "VUS" "" "0000602893" "0" "70" "11" "5269656" "5269656" "subst" "2.43893E-5" "03464" "HBG1_001780" "g.5269656T>G" "" "{DB:HbVar2858}, P. JOLY (E-4142-2010)" "" "" "" "Germline" "" "" "0" "" "" "g.5248426T>G" "" "VUS" "" "0000602894" "0" "30" "11" "5271148" "5271148" "subst" "0" "03464" "HBG1_001966" "g.5271148G>C" "" "Hbvar-?, {PMID:Akinbami AO:26372199}" "" "" "AGamma -61C>G" "Germline" "" "" "0" "" "" "g.5249918G>C" "" "VUS" "" "0000602895" "0" "70" "11" "5270985" "5270985" "subst" "0" "03464" "HBG1_001990" "g.5270985C>T" "" "Hbvar-?, {PMID:Cui J:22384921}" "" "" "" "Germline" "" "" "0" "" "" "g.5249755C>T" "" "VUS" "" "0000602896" "0" "70" "11" "5270946" "5270946" "subst" "0" "03464" "HBG1_001991" "g.5270946C>T" "" "Hbvar-?, {PMID:Cui J:22384921}" "" "" "" "Germline" "" "" "0" "" "" "g.5249716C>T" "" "VUS" "" "0000602897" "0" "70" "11" "5269693" "5269693" "subst" "2.03802E-5" "03464" "HBG1_002032" "g.5269693C>T" "" "Hbvar-?, {PMID:Patel N:25565447}" "" "" "" "Germline" "" "" "0" "" "" "g.5248463C>T" "" "VUS" "" "0000925435" "0" "30" "11" "5271063" "5271063" "subst" "0.151009" "02326" "HBG1_003006" "g.5271063C>T" "" "" "" "HBG1(NM_000559.2):c.-29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 HBG1 ## Count = 61 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000249157" "00009176" "10" "447" "0" "447" "0" "c.*3del" "r.(?)" "p.(=)" "" "" "0000281231" "00009176" "10" "449" "0" "449" "0" "c.*5A>T" "r.(=)" "p.(=)" "" "" "0000281232" "00009176" "10" "451" "0" "451" "0" "c.*7dup" "r.(?)" "p.(=)" "" "" "0000281233" "00009176" "10" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Thr76Ile)" "" "" "0000544553" "00009176" "10" "-3419" "0" "-3418" "0" "c.-3419_-3418insA" "r.(?)" "p.(=)" "" "" "0000602843" "00009176" "70" "9" "0" "9" "0" "c.9T>G" "r.(?)" "p.(His3Gln)" "1" "Hb F-Macedonia-I" "0000602844" "00009176" "70" "16" "0" "16" "0" "c.16G>A" "r.(?)" "p.(Glu6Lys)" "1" "Hb F-Texas-I" "0000602845" "00009176" "70" "20" "0" "20" "0" "c.20A>G" "r.(?)" "p.(Glu7Gly)" "1" "Hb F-Kotobuki" "0000602846" "00009176" "70" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Glu7Gln)" "1" "Hb F-Pordenone" "0000602847" "00009176" "70" "38" "0" "38" "0" "c.38C>G" "r.(?)" "p.(Thr13Arg)" "1" "Hb F-Calluna" "0000602848" "00009176" "70" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Asp23Gly)" "1" "Hb F-Kuala Lumpur" "0000602849" "00009176" "70" "110" "0" "110" "0" "c.110C>G" "r.(?)" "p.(Pro37Arg)" "2" "Hb F-Pendergrass" "0000602850" "00009176" "70" "112" "0" "112" "0" "c.112T>G" "r.(?)" "p.(Trp38Gly)" "2" "Hb F-Cobb" "0000602851" "00009176" "70" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(Gln40Arg)" "2" "Hb F-Bonaire-GA" "0000602852" "00009176" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Lys)" "2" "Hb F-Woodstock" "0000602853" "00009176" "70" "161" "0" "161" "0" "c.161C>A" "r.(?)" "p.(Ala54Asp)" "2" "Hb F-Beech Island" "0000602854" "00009176" "70" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Lys62Glu)" "2" "Hb F-Jamaica" "0000602855" "00009176" "70" "217" "0" "217" "0" "c.217G>C" "r.(?)" "p.(Gly73Arg)" "2" "Hb F-Iwata" "0000602856" "00009176" "70" "220" "0" "220" "0" "c.220G>C" "r.(?)" "p.(Asp74His)" "2" "Hb F-Xin-Su" "0000602857" "00009176" "70" "227" "0" "227" "0" "c.227C>T" "r.(?)" "p.(Thr76Ile)" "2" "Hb F-Sardinia (AgammaT)" "0000602858" "00009176" "70" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Asp80Asn)" "2" "Hb F-Dammam" "0000602859" "00009176" "70" "241" "0" "241" "0" "c.241G>T" "r.(?)" "p.(Asp81Tyr)" "2" "Hb F-Victoria Jubilee" "0000602860" "00009176" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "2" "Hb F-Dickinson" "0000602861" "00009176" "70" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Glu122Lys)" "3" "Hb F-Hull" "0000602862" "00009176" "70" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Ala129Thr)" "3" "Hb F-Baskent" "0000602863" "00009176" "70" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Val135Met)" "3" "Hb F-Jiangsu" "0000602864" "00009176" "70" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Glu7Lys)" "1" "Hb F-Texas-II" "0000602865" "00009176" "70" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Thr13Lys)" "1" "Hb F-Alexandra" "0000602866" "00009176" "70" "327" "0" "327" "0" "c.327T>A" "r.(?)" "p.(Asn109Lys)" "3" "Hb F-Ube" "0000602867" "00009176" "70" "71" "0" "73" "0" "c.71_73del" "r.(?)" "p.(Ala24del)" "1" "Hb F-Mauritius" "0000602868" "00009176" "70" "76" "0" "76" "0" "c.76G>C" "r.(?)" "p.(Gly26Arg)" "1" "Hb F-Xinjiang" "0000602869" "00009176" "70" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Asp44Asn)" "2" "Hb F-Fukuyama" "0000602870" "00009176" "70" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Asp74Asn)" "2" "Hb F-Forest Park" "0000602871" "00009176" "70" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Asp81Asn)" "2" "Hb F-Yamaguchi" "0000602872" "00009176" "70" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Glu122Lys)" "3" "Hb F-Siena" "0000602873" "00009176" "70" "-255" "0" "-255" "0" "c.-255C>T" "r.(?)" "p.(?)" "_1" "nd-HPFH" "0000602874" "00009176" "70" "-251" "0" "-251" "0" "c.-251T>C" "r.(?)" "p.(?)" "_1" "British nd-HPFH" "0000602875" "00009176" "70" "-249" "0" "-249" "0" "c.-249C>T" "r.(?)" "p.(?)" "_1" "Italian nd-HPFH" "0000602876" "00009176" "70" "-248" "0" "-248" "0" "c.-248C>G" "r.(?)" "p.(?)" "_1" "Brazilian nd-HPFH" "0000602877" "00009176" "70" "-228" "0" "-228" "0" "c.-228T>C" "r.(?)" "p.(?)" "_1" "Black nd-HPFH" "0000602878" "00009176" "70" "-170" "0" "-170" "0" "c.-170G>A" "r.(?)" "p.(?)" "_1" "Greek-Italian nd-HPFH" "0000602879" "00009176" "70" "-170" "0" "-170" "0" "c.-170G>A" "r.(?)" "p.(?)" "_1" "Black-Greek nd-HPFH" "0000602880" "00009176" "70" "-167" "0" "-167" "0" "c.-167C>T" "r.(?)" "p.(?)" "_1" "Georgia nd-HPFH" "0000602881" "00009176" "70" "-167" "0" "-155" "0" "c.-167_-155del" "r.(?)" "p.(?)" "_1" "" "0000602882" "00009176" "70" "364" "0" "364" "0" "c.364G>C" "r.(?)" "p.(Glu122Gln)" "3" "Hb F-Campinas" "0000602883" "00009176" "70" "410" "0" "410" "0" "c.410C>G" "r.(?)" "p.(Ala137Gly)" "3" "Hb F-Charlotte" "0000602884" "00009176" "70" "409" "0" "409" "0" "c.409G>T" "r.(?)" "p.(Ala137Ser)" "3" "Hb F-Porto Torres" "0000602885" "00009176" "70" "-211" "0" "-211" "0" "c.-211C>T" "r.(?)" "p.(?)" "_1" "Cretan HPFH" "0000602886" "00009176" "70" "-264" "0" "-264" "0" "c.-264C>T" "r.(?)" "p.(?)" "_1" "Venezuelan nd-HPFH" "0000602887" "00009176" "70" "396" "0" "396" "0" "c.396G>T" "r.(?)" "p.(Gln132His)" "3" "Hb F-Oman" "0000602888" "00009176" "70" "67" "0" "67" "0" "c.67G>A" "r.(?)" "p.(Asp23Asn)" "" "Hb F-Beni Khirane" "0000602889" "00009176" "70" "-250" "0" "-250" "0" "c.-250C>T" "r.(?)" "p.(?)" "_1" "" "0000602890" "00009176" "70" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Gly120Ser)" "3" "Hb F-Osilo" "0000602891" "00009176" "70" "365" "0" "365" "0" "c.365A>T" "r.(?)" "p.(Glu122Val)" "3" "Hb F-Salamanque" "0000602892" "00009176" "70" "275" "0" "275" "0" "c.275T>G" "r.(?)" "p.(Leu92Arg)" "2" "Hb F-Moyen-Orient" "0000602893" "00009176" "70" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Glu126Ala)" "3" "Hb F-Port-Royal II" "0000602894" "00009176" "30" "-114" "0" "-114" "0" "c.-114C>G" "r.(?)" "p.(?)" "_1" "" "0000602895" "00009176" "70" "50" "0" "50" "0" "c.50G>A" "r.(?)" "p.(Gly17Asp)" "" "Hb F-Chori-I" "0000602896" "00009176" "70" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Gly30Glu)" "" "Hb F-Chori-II" "0000602897" "00009176" "70" "340" "0" "340" "0" "c.340G>A" "r.(?)" "p.(Val114Ile)" "3" "Hb F-Sykesville" "0000925435" "00009176" "30" "-29" "0" "-29" "0" "c.-29G>A" "r.(?)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000270106" "0000602843" "0000270107" "0000602844" "0000270108" "0000602845" "0000270109" "0000602846" "0000270110" "0000602847" "0000270111" "0000602848" "0000270112" "0000602849" "0000270113" "0000602850" "0000270114" "0000602851" "0000270115" "0000602852" "0000270116" "0000602853" "0000270117" "0000602854" "0000270118" "0000602855" "0000270119" "0000602856" "0000270120" "0000602857" "0000270121" "0000602858" "0000270122" "0000602859" "0000270123" "0000602860" "0000270124" "0000602861" "0000270125" "0000602862" "0000270126" "0000602863" "0000270127" "0000602864" "0000270128" "0000602865" "0000270129" "0000602866" "0000270130" "0000602867" "0000270131" "0000602868" "0000270132" "0000602869" "0000270133" "0000602870" "0000270134" "0000602871" "0000270135" "0000602872" "0000270136" "0000602873" "0000270137" "0000602874" "0000270138" "0000602875" "0000270139" "0000602876" "0000270140" "0000602877" "0000270141" "0000602878" "0000270142" "0000602879" "0000270143" "0000602880" "0000270144" "0000602881" "0000270145" "0000602882" "0000270146" "0000602883" "0000270147" "0000602884" "0000270148" "0000602885" "0000270149" "0000602886" "0000270150" "0000602887" "0000270151" "0000602888" "0000270152" "0000602889" "0000270153" "0000602890" "0000270154" "0000602891" "0000270155" "0000602892" "0000270156" "0000602893" "0000270157" "0000602894" "0000270158" "0000602895" "0000270159" "0000602896" "0000270160" "0000602897"