### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HBG2) # 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}}" "HBG2" "hemoglobin, gamma G" "11" "p15.5" "unknown" "NG_000007.3" "UD_132085411693" "" "https://www.LOVD.nl/HBG2" "HbVar - human hemoglobin variants and thalassemias \r\nThe Globin Gene Server " "1" "4832" "3048" "142250" "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/HBG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-11-06 00:00:00" "00006" "2017-05-24 09:20:42" "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}}" "00009177" "HBG2" "hemoglobin, gamma G" "001" "NM_000184.2" "" "NP_000175.1" "" "" "" "-53" "530" "444" "5276011" "5274421" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03500" "TNCY" "Cyanosis, transient neonatal" "AD" "613977" "" "" "" "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 = 3 "{{geneid}}" "{{diseaseid}}" "HBG2" "01363" "HBG2" "03500" "HBG2" "05669" ## Individuals ## Do not remove or alter this header ## ## Count = 75 "{{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}}" "00269032" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269033" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269034" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269035" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269036" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269037" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269038" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269039" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269040" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269041" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269042" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269043" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269044" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269045" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269046" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269047" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269048" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269049" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269050" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269051" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269052" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269053" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269054" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269055" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269056" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269057" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269058" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269059" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269060" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269061" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269062" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269063" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269064" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269065" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269066" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269067" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269068" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269069" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269070" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269071" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269072" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269073" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269074" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269075" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269076" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269077" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269078" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269079" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269080" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269081" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269082" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269083" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269084" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269085" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269086" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269087" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269088" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269089" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269090" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269091" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269092" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269093" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269094" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269095" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269096" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269097" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269098" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269099" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269100" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269101" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269102" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269103" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269104" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00269105" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00305905" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 75 "{{individualid}}" "{{diseaseid}}" "00269032" "05669" "00269033" "05669" "00269034" "05669" "00269035" "05669" "00269036" "05669" "00269037" "05669" "00269038" "05669" "00269039" "05669" "00269040" "05669" "00269041" "05669" "00269042" "05669" "00269043" "05669" "00269044" "05669" "00269045" "05669" "00269046" "05669" "00269047" "05669" "00269048" "05669" "00269049" "05669" "00269050" "05669" "00269051" "05669" "00269052" "05669" "00269053" "05669" "00269054" "05669" "00269055" "05669" "00269056" "05669" "00269057" "05669" "00269058" "05669" "00269059" "05669" "00269060" "05669" "00269061" "05669" "00269062" "05669" "00269063" "05669" "00269064" "05669" "00269065" "05669" "00269066" "05669" "00269067" "05669" "00269068" "05669" "00269069" "05669" "00269070" "05669" "00269071" "05669" "00269072" "05669" "00269073" "05669" "00269074" "05669" "00269075" "05669" "00269076" "05669" "00269077" "05669" "00269078" "05669" "00269079" "05669" "00269080" "05669" "00269081" "05669" "00269082" "05669" "00269083" "05669" "00269084" "05669" "00269085" "05669" "00269086" "05669" "00269087" "05669" "00269088" "05669" "00269089" "05669" "00269090" "05669" "00269091" "05669" "00269092" "05669" "00269093" "05669" "00269094" "05669" "00269095" "05669" "00269096" "05669" "00269097" "05669" "00269098" "05669" "00269099" "05669" "00269100" "05669" "00269101" "05669" "00269102" "05669" "00269103" "05669" "00269104" "05669" "00269105" "05669" "00305905" "01363" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01363, 03500, 05669 ## Count = 76 "{{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}}" "0000206875" "05669" "00269032" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206876" "05669" "00269033" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206877" "05669" "00269034" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206878" "05669" "00269035" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206879" "05669" "00269036" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206880" "05669" "00269037" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206881" "05669" "00269038" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206882" "05669" "00269039" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206883" "05669" "00269040" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206884" "05669" "00269041" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206885" "05669" "00269042" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206886" "05669" "00269043" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206887" "05669" "00269044" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206888" "05669" "00269045" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206889" "05669" "00269046" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206890" "05669" "00269047" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206891" "05669" "00269048" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206892" "05669" "00269049" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206893" "05669" "00269050" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206894" "05669" "00269051" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206895" "05669" "00269052" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206896" "05669" "00269053" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206897" "05669" "00269054" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206898" "05669" "00269055" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206899" "05669" "00269056" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206900" "05669" "00269057" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206901" "05669" "00269058" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206902" "05669" "00269059" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206903" "05669" "00269060" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206904" "05669" "00269061" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206905" "05669" "00269062" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206906" "05669" "00269063" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206907" "05669" "00269064" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206908" "05669" "00269065" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206909" "05669" "00269066" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206910" "05669" "00269067" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206911" "05669" "00269068" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206912" "05669" "00269069" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206913" "05669" "00269070" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206914" "05669" "00269071" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206915" "05669" "00269072" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206916" "05669" "00269073" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206917" "05669" "00269074" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206918" "05669" "00269075" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206919" "05669" "00269076" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206920" "05669" "00269077" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206921" "05669" "00269078" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206922" "05669" "00269079" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206923" "05669" "00269080" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206924" "05669" "00269081" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206925" "05669" "00269082" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206926" "05669" "00269083" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206927" "05669" "00269084" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206928" "05669" "00269085" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206929" "05669" "00269086" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206930" "05669" "00269087" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206931" "05669" "00269088" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206932" "05669" "00269089" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206933" "05669" "00269090" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "HPFH" "thalassemia" "0000206934" "05669" "00269091" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206935" "05669" "00269092" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206936" "05669" "00269093" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206937" "05669" "00269094" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206938" "05669" "00269095" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206939" "05669" "00269096" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206940" "05669" "00269097" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206941" "05669" "00269098" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206942" "05669" "00269099" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206943" "05669" "00269100" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206944" "05669" "00269101" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206945" "05669" "00269102" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206946" "05669" "00269103" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206947" "05669" "00269104" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000206948" "05669" "00269105" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "Hb variant" "0000231752" "01363" "00305905" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000231753" "01363" "00305905" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 75 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000270161" "00269032" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270162" "00269033" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270163" "00269034" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270164" "00269035" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270165" "00269036" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270166" "00269037" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270167" "00269038" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270168" "00269039" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270169" "00269040" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270170" "00269041" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270171" "00269042" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270172" "00269043" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270173" "00269044" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270174" "00269045" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270175" "00269046" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270176" "00269047" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270177" "00269048" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270178" "00269049" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270179" "00269050" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270180" "00269051" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270181" "00269052" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270182" "00269053" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270183" "00269054" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270184" "00269055" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270185" "00269056" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270186" "00269057" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270187" "00269058" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270188" "00269059" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270189" "00269060" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270190" "00269061" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270191" "00269062" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270192" "00269063" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270193" "00269064" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270194" "00269065" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270195" "00269066" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270196" "00269067" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270197" "00269068" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270198" "00269069" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270199" "00269070" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270200" "00269071" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270201" "00269072" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270202" "00269073" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270203" "00269074" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270204" "00269075" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270205" "00269076" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270206" "00269077" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270207" "00269078" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270208" "00269079" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270209" "00269080" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270210" "00269081" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270211" "00269082" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270212" "00269083" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270213" "00269084" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270214" "00269085" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270215" "00269086" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270216" "00269087" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270217" "00269088" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270218" "00269089" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270219" "00269090" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270220" "00269091" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270221" "00269092" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270222" "00269093" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270223" "00269094" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270224" "00269095" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270225" "00269096" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270226" "00269097" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270227" "00269098" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270228" "00269099" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270229" "00269100" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270230" "00269101" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270231" "00269102" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270232" "00269103" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270233" "00269104" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000270234" "00269105" "1" "03464" "00006" "2019-06-05 12:00:00" "" "" "?" "DNA" "" "" "0000307036" "00305905" "1" "03695" "03695" "2020-07-05 15:52:48" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{geneid}}" "0000270161" "HBG2" "0000270162" "HBG2" "0000270163" "HBG2" "0000270164" "HBG2" "0000270165" "HBG2" "0000270166" "HBG2" "0000270167" "HBG2" "0000270168" "HBG2" "0000270169" "HBG2" "0000270170" "HBG2" "0000270171" "HBG2" "0000270172" "HBG2" "0000270173" "HBG2" "0000270174" "HBG2" "0000270175" "HBG2" "0000270176" "HBG2" "0000270177" "HBG2" "0000270178" "HBG2" "0000270179" "HBG2" "0000270180" "HBG2" "0000270181" "HBG2" "0000270182" "HBG2" "0000270183" "HBG2" "0000270184" "HBG2" "0000270185" "HBG2" "0000270186" "HBG2" "0000270187" "HBG2" "0000270188" "HBG2" "0000270189" "HBG2" "0000270190" "HBG2" "0000270191" "HBG2" "0000270192" "HBG2" "0000270193" "HBG2" "0000270194" "HBG2" "0000270195" "HBG2" "0000270196" "HBG2" "0000270197" "HBG2" "0000270198" "HBG2" "0000270199" "HBG2" "0000270200" "HBG2" "0000270201" "HBG2" "0000270202" "HBG2" "0000270203" "HBG2" "0000270204" "HBG2" "0000270205" "HBG2" "0000270206" "HBG2" "0000270207" "HBG2" "0000270208" "HBG2" "0000270209" "HBG2" "0000270210" "HBG2" "0000270211" "HBG2" "0000270212" "HBG2" "0000270213" "HBG2" "0000270214" "HBG2" "0000270215" "HBG2" "0000270216" "HBG2" "0000270217" "HBG2" "0000270218" "HBG2" "0000270219" "HBG2" "0000270220" "HBG2" "0000270221" "HBG2" "0000270222" "HBG2" "0000270223" "HBG2" "0000270224" "HBG2" "0000270225" "HBG2" "0000270226" "HBG2" "0000270227" "HBG2" "0000270228" "HBG2" "0000270229" "HBG2" "0000270230" "HBG2" "0000270231" "HBG2" "0000270232" "HBG2" "0000270233" "HBG2" "0000270234" "HBG2" "0000307036" "HBG2" ## 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 = 81 "{{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" "" "0000602898" "0" "70" "11" "5275955" "5275955" "subst" "0.0000418177" "03464" "HBG2_000568" "g.5275955C>A" "" "{DB:HbVar580}, {OMIM142250:0013}, {EXP:003123}, {PMID:Eng:4837284}" "" "" "" "Germline" "" "rs36006195" "0" "" "" "g.5254725C>A" "" "VUS" "" "0000602899" "0" "70" "11" "5275942" "5275942" "subst" "0" "03464" "HBG2_000569" "g.5275942T>C" "" "{DB:HbVar581}, {OMIM142250:0016}, {EXP:003126}, {PMID:Ohta:6172403}" "" "" "" "Germline" "" "rs34263826" "0" "" "" "g.5254712T>C" "" "VUS" "" "0000602900" "0" "70" "11" "5275937" "5275937" "subst" "0" "03464" "HBG2_000570" "g.5275937C>T" "" "{DB:HbVar582}, {OMIM142250:0002}, {EXP:003129}, {PMID:Chen:2417990}, {PMID:Carrell:4429671}" "" "" "" "Germline" "" "rs34501593" "0" "" "" "g.5254707C>T" "" "VUS" "" "0000602901" "0" "70" "11" "5275934" "5275934" "" "0" "03464" "HBG2_000571" "g.5275934T>Y" "" "{DB:HbVar583}, {OMIM142250:0001}, {EXP:020643}, {EXP:020644}, {PMID:de Pablos:2435680}" "" "" "" "Germline" "" "rs35521813" "0" "" "" "g.5254704T>Y" "" "VUS" "" "0000602902" "0" "70" "11" "5275921" "5275921" "subst" "0" "03464" "HBG2_000572" "g.5275921G>C" "" "{DB:HbVar584}, {OMIM142250:0008}, {EXP:020645}, Bradley TB; HbVar A-2391-2010;" "" "" "" "Germline" "" "rs281864890" "0" "" "" "g.5254691G>C" "" "VUS" "" "0000602903" "0" "70" "11" "5275913" "5275913" "subst" "0" "03464" "HBG2_000573" "g.5275913A>G" "" "{DB:HbVar585}, {OMIM142250:0036}, {EXP:003131}, {PMID:Plaseska:1706691}" "" "" "" "Germline" "" "rs34438981" "0" "" "" "g.5254683A>G" "" "VUS" "" "0000602904" "0" "70" "11" "5275910" "5275910" "subst" "0" "03464" "HBG2_000574" "g.5275910C>G" "" "{DB:HbVar586}, {OMIM142250:0017}, {EXP:003132}, {PMID:Brennan:836882}" "" "" "" "Germline" "" "rs34907654" "0" "" "" "g.5254680C>G" "" "VUS" "" "0000602905" "0" "70" "11" "5275895" "5275895" "subst" "0" "03464" "HBG2_000575" "g.5275895C>G" "" "{DB:HbVar587}, {OMIM142250:0007}, {EXP:003134}, {PMID:Wada:2420697}" "" "" "" "Germline" "" "rs33955330" "0" "" "" "g.5254665C>G" "" "VUS" "" "0000602906" "0" "70" "11" "5275895" "5275895" "subst" "0" "03464" "HBG2_000576" "g.5275895C>T" "" "{DB:HbVar588}, {EXP:003133}, {PMID:Pobedimskaya:8144355}" "" "" "" "Germline" "" "rs33955330" "0" "" "" "g.5254665C>T" "" "VUS" "" "0000602907" "0" "70" "11" "5275891" "5275891" "subst" "0" "03464" "HBG2_000577" "g.5275891T>C" "" "{DB:HbVar589}, {OMIM142250:0024}, {EXP:020648}, {PMID:Hu:2420748}" "" "" "" "Germline" "" "rs281864891" "0" "" "" "g.5254661T>C" "" "VUS" "" "0000602908" "0" "70" "11" "5275891" "5275891" "subst" "0" "03464" "HBG2_000578" "g.5275891T>A" "" "{DB:HbVar590}, {OMIM142250:0029}, {EXP:003136}, {PMID:de Pablos:2459082}" "" "" "" "Germline" "" "rs281864891" "0" "" "" "g.5254661T>A" "" "VUS" "" "0000602909" "0" "70" "11" "5275882" "5275882" "subst" "0" "03464" "HBG2_000579" "g.5275882C>T" "" "{DB:HbVar591}, {OMIM142250:0037}, {EXP:003137}, {PMID:Qualtieri:1726095}" "" "" "" "Germline" "" "rs35687396" "0" "" "" "g.5254652C>T" "" "VUS" "" "0000602910" "0" "70" "11" "5275880" "5275880" "subst" "0" "03464" "HBG2_000580" "g.5275880C>T" "" "{DB:HbVar592}, {OMIM142250:0019}, {EXP:003139}, {PMID:Kleman:2442122}" "" "" "" "Germline" "" "rs35654328" "0" "" "" "g.5254650C>T" "" "VUS" "" "0000602911" "0" "70" "11" "5275734" "5275734" "subst" "0" "03464" "HBG2_000581" "g.5275734C>T" "" "{DB:HbVar593}, {OMIM142250:0023}, {EXP:003140}, {PMID:Chen:2581919}" "" "" "" "Germline" "" "rs35885783" "0" "" "" "g.5254504C>T" "" "VUS" "" "0000602912" "0" "70" "11" "5275715" "5275715" "subst" "0" "03464" "HBG2_000582" "g.5275715C>T" "" "{DB:HbVar594}, {OMIM142250:0030}, {EXP:020649}, {PMID:Kutlar:2459083}" "" "" "" "Germline" "" "rs281864892" "0" "" "" "g.5254485C>T" "" "VUS" "" "0000602913" "0" "70" "11" "5275716" "5275716" "subst" "0" "03464" "HBG2_000583" "g.5275716T>C" "" "{DB:HbVar595}, {OMIM142250:0044}, {EXP:003144}, {PMID:de Pablos Gallego:8718700}" "" "" "" "Germline" "" "rs34532478" "0" "" "" "g.5254486T>C" "" "VUS" "" "0000602914" "0" "70" "11" "5275712" "5275712" "subst" "0" "03464" "HBG2_000584" "g.5275712A>G" "" "{DB:HbVar596}, {OMIM142250:0041}, {EXP:003146}, {PMID:Kohli-Kumar:7741137}" "" "" "" "Germline" "" "rs34878913" "0" "" "" "g.5254482A>G" "" "VUS" "" "0000602915" "0" "70" "11" "5275704" "5275704" "subst" "0" "03464" "HBG2_000585" "g.5275704T>G" "" "{DB:HbVar597}, {OMIM142250:0012}, {EXP:003148}, {PMID:Cepreganova:1726098}, {PMID:Honig:6814491}" "" "" "" "Germline" "" "rs34017450" "0" "" "" "g.5254474T>G" "" "VUS" "" "0000602916" "0" "70" "11" "5275670" "5275670" "subst" "0" "03464" "HBG2_000586" "g.5275670A>C" "" "{DB:HbVar598}, {OMIM142250:0010}, {EXP:003150}, {PMID:Pablos:de}, {PMID:GR:Serjeant}" "" "" "" "Germline" "" "rs34915311" "0" "" "" "g.5254440A>C" "" "VUS" "" "0000602917" "0" "70" "11" "5275659" "5275659" "subst" "0.00000406128" "03464" "HBG2_000587" "g.5275659T>G" "" "{DB:HbVar599}, {OMIM142250:0038}, {EXP:003152}, {PMID:Abbes:7558873}, {PMID:Pobedimskaya:7687241}" "" "" "" "Germline" "" "rs28933078" "0" "" "" "g.5254429T>G" "" "VUS" "" "0000602918" "0" "70" "11" "5275659" "5275659" "subst" "0.00000812255" "03464" "HBG2_000588" "g.5275659T>C" "" "{DB:HbVar600}, {OMIM142250:0042}, {EXP:003151}, {PMID:Abbes:7558873}" "" "" "" "Germline" "" "rs28933078" "0" "" "" "g.5254429T>C" "" "VUS" "" "0000602919" "0" "70" "11" "5275647" "5275647" "subst" "0" "03464" "HBG2_000589" "g.5275647G>A" "" "{DB:HbVar601}, {OMIM142250:0025}, {EXP:003154}, {PMID:Prehu:12603090}, {PMID:Urabe:8811323}, {PMID:Glader:2483933}" "" "" "" "Germline" "" "rs34474104" "0" "" "" "g.5254417G>A" "" "VUS" "" "0000602920" "0" "70" "11" "5275639" "5275639" "" "0" "03464" "HBG2_000590" "g.5275639C>R" "" "{DB:HbVar602}, {OMIM142250:0005}, {EXP:003155}, {PMID:Kutlar:2442123}" "" "" "" "Germline" "" "rs34019507" "0" "" "" "g.5254409C>R" "" "VUS" "" "0000602921" "0" "70" "11" "5275637" "5275637" "subst" "0" "03464" "HBG2_000591" "g.5275637T>C" "" "{DB:HbVar603}, {OMIM142250:0022}, {EXP:003156}, {PMID:Zeng:2579547}" "" "" "" "Germline" "" "rs35481866" "0" "" "" "g.5254407T>C" "" "VUS" "" "0000602922" "0" "70" "11" "5275638" "5275638" "subst" "0.000016243" "03464" "HBG2_000592" "g.5275638T>G" "" "{DB:HbVar604}, {OMIM142250:0031}, {EXP:003157}, {PMID:Plaseska:1703138}" "" "" "" "Germline" "" "rs34264694" "0" "" "" "g.5254408T>G" "" "VUS" "" "0000602923" "0" "70" "11" "5275620" "5275620" "subst" "0" "03464" "HBG2_000593" "g.5275620C>G" "" "{DB:HbVar605}, {OMIM142250:0018}, {EXP:020650}, {PMID:Wada:2420697}" "" "" "" "Germline" "" "rs281860594" "0" "" "" "g.5254390C>G" "" "VUS" "" "0000602924" "0" "70" "11" "5275610" "5275610" "subst" "0" "03464" "HBG2_000594" "g.5275610A>G" "" "{DB:HbVar606}, {OMIM142250:0039}, {EXP:020651}, {PMID:Ferranti:7852085}, {PMID:Papadakis:8566966}" "" "" "" "Germline" "" "rs104894225" "0" "" "" "g.5254380A>G" "" "VUS" "" "0000602925" "0" "70" "11" "5275604" "5275604" "subst" "0" "03464" "HBG2_000595" "g.5275604T>C" "" "{DB:HbVar607}, {OMIM142250:0009}, {EXP:003162}, {PMID:Nakatsuji:6192110}" "" "" "" "Germline" "" "rs34150306" "0" "" "" "g.5254374T>C" "" "VUS" "" "0000602926" "0" "70" "11" "5275596" "5275596" "subst" "0" "03464" "HBG2_000596" "g.5275596C>T" "" "{DB:HbVar608}, {OMIM142250:0015}, {EXP:020652}, {PMID:Nakatsuji:6183237}" "" "" "" "Germline" "" "rs63751148" "0" "" "" "g.5254366C>T" "" "VUS" "" "0000602927" "0" "70" "11" "5275560" "5275560" "subst" "0" "03464" "HBG2_000597" "g.5275560G>A" "" "{DB:HbVar609}, {OMIM142250:0034}, {EXP:003166}, {PMID:Molchanova:1385361}, {PMID:Glader:2470018}, {PMID:Priest:2470017}" "" "" "" "Germline" "" "rs35103459" "0" "" "" "g.5254330G>A" "" "VUS" "" "0000602928" "0" "70" "11" "5275554" "5275554" "subst" "0.00000406105" "03464" "HBG2_000598" "g.5275554C>T" "" "{DB:HbVar610}, {OMIM142250:0006}, {EXP:003167}, {PMID:Nakatsuji:6186636}" "" "" "" "Germline" "" "rs35812514" "0" "" "" "g.5254324C>T" "" "VUS" "" "0000602929" "0" "70" "11" "5275533" "5275533" "subst" "0" "03464" "HBG2_000599" "g.5275533C>T" "" "{DB:HbVar611}, {OMIM142250:0011}, {EXP:003169}, {PMID:Nakatsuji:6206897}" "" "" "" "Germline" "" "rs34876238" "0" "" "" "g.5254303C>T" "" "VUS" "" "0000602930" "0" "70" "11" "5275522" "5275522" "subst" "0" "03464" "HBG2_000600" "g.5275522C>G" "" "{DB:HbVar612}, {OMIM142250:0040}, {EXP:003170}, {PMID:Plaseska:7713741}" "" "" "" "Germline" "" "rs35717854" "0" "" "" "g.5254292C>G" "" "VUS" "" "0000602931" "0" "70" "11" "5274598" "5274598" "subst" "0.00000406835" "03464" "HBG2_000601" "g.5274598T>C" "" "{DB:HbVar613}, {OMIM142250:0014}, {EXP:003171}, {PMID:Altay:588240}, {PMID:Cauchi:5792729}, {PMID:Kutlar:1709134}" "" "" "" "Germline" "" "rs36049074" "0" "" "" "g.5253368T>C" "" "VUS" "" "0000602932" "0" "70" "11" "5274590" "5274590" "subst" "0" "03464" "HBG2_000602" "g.5274590T>G" "" "{DB:HbVar614}, {OMIM142250:0003}, {EXP:003172}, {PMID:Shelton:6186635}" "" "" "" "Germline" "" "rs34703519" "0" "" "" "g.5253360T>G" "" "VUS" "" "0000602933" "0" "70" "11" "5274587" "5274587" "subst" "0" "03464" "HBG2_000603" "g.5274587C>T" "" "{DB:HbVar615}, {OMIM142250:0004}, {EXP:020653}, {PMID:Brennan:836882}" "" "" "" "Germline" "" "rs63750021" "0" "" "" "g.5253357C>T" "" "VUS" "" "0000602934" "0" "70" "11" "5274574" "5274574" "subst" "0" "03464" "HBG2_000604" "g.5274574T>G" "" "{DB:HbVar616}, {OMIM142250:0021}, {EXP:003174}, Huisman THJ; HbVar A-2391-2010, {PMID:Brimhall:4846278}" "" "" "" "Germline" "" "rs34997902" "0" "" "" "g.5253344T>G" "" "VUS" "" "0000602935" "0" "70" "11" "5274560" "5274560" "subst" "0" "03464" "HBG2_000605" "g.5274560A>C" "" "{DB:HbVar617}, {OMIM142250:0020}, {EXP:003176}, {PMID:Lee-Potter:1127124}" "" "" "" "Germline" "" "rs35826780" "0" "" "" "g.5253330A>C" "" "VUS" "" "0000602936" "0" "70" "11" "5274512" "5274512" "subst" "0" "03464" "HBG2_000606" "g.5274512G>A" "" "{DB:HbVar618}, {OMIM142250:0032}, {EXP:003179}, {PMID:Harano:1703139}" "" "" "" "Germline" "" "rs34807671" "0" "" "" "g.5253282G>A" "" "VUS" "" "0000602937" "0" "70" "11" "5275940" "5275940" "subst" "0" "03464" "HBG2_000607" "g.5275940C>T" "" "{DB:HbVar640}, {PMID:Larkin:5635604}" "" "" "" "Germline" "" "rs281864893" "0" "" "" "g.5254710C>T" "" "VUS" "" "0000602938" "0" "70" "11" "5275921" "5275921" "subst" "0" "03464" "HBG2_000608" "g.5275921G>T" "" "{DB:HbVar641}, {PMID:Loukopoulos:5763628}, {PMID:Vella:13622677}" "" "" "" "Germline" "" "rs281864890" "0" "" "" "g.5254691G>T" "" "VUS" "" "0000602939" "0" "70" "11" "5274624" "5274624" "subst" "0" "03464" "HBG2_000609" "g.5274624A>T" "" "{DB:HbVar642}" "" "" "" "Germline" "" "rs281860625" "0" "" "" "g.5253394A>T" "" "VUS" "" "0000602940" "0" "70" "11" "5275899" "5275899" "" "0" "03464" "HBG2_000610" "g.5275899A>Y" "" "{DB:HbVar852}, {OMIM142250:0049}, {PMID:Wajcman H:10722115}" "" "" "" "Germline" "" "rs34018799" "0" "" "" "g.5254669A>Y" "" "VUS" "" "0000602941" "0" "70" "11" "5275905" "5275905" "" "0" "03464" "HBG2_000611" "g.5275905C>R" "" "{DB:HbVar872}, {OMIM142250:0048}, {PMID:Wajcman H:10722115}" "" "" "" "Germline" "" "rs35621390" "0" "" "" "g.5254675C>R" "" "VUS" "" "0000602942" "0" "70" "11" "5274596" "5274596" "subst" "0" "03464" "HBG2_000612" "g.5274596A>G" "" "{DB:HbVar892}, {OMIM142250:0047}, {EXP:015740}, {PMID:Manca:10722114}" "" "" "" "Germline" "" "rs35020253" "0" "" "" "g.5253366A>G" "" "VUS" "" "0000602943" "0" "70" "11" "5276213" "5276213" "subst" "0" "03464" "HBG2_000613" "g.5276213G>C" "" "{DB:HbVar1006}, {OMIM142250:0026}, {PMID:Huisman:1200028}, {PMID:Collins:6205403}" "" "-202 (C->G) Ggamma" "" "Germline" "" "rs35617911" "0" "" "" "g.5254983G>C" "" "VUS" "" "0000602944" "0" "70" "11" "5276186" "5276186" "subst" "0" "03464" "HBG2_000614" "g.5276186A>G" "" "{DB:HbVar1012}, {OMIM142250:0027}, {PMID:Friedman:1246351}" "" "-175 (T->C) Ggamma" "" "Germline" "" "rs63750654" "0" "" "" "g.5254956A>G" "" "VUS" "" "0000602945" "0" "70" "11" "5276125" "5276125" "subst" "0" "03464" "HBG2_000615" "g.5276125G>C" "" "{DB:HbVar1016}, {PMID:Motum PI:7516698}" "" "-114 (C->G) Ggamma" "" "Germline" "" "rs34809449" "0" "" "" "g.5254895G>C" "" "VUS" "" "0000602946" "0" "70" "11" "5276125" "5276125" "subst" "0" "03464" "HBG2_000616" "g.5276125G>A" "" "{DB:HbVar1017}, {OMIM142250:0035}, {PMID:Fucharoen:1698280}" "" "-114 (C->T) Ggamma" "" "Germline" "" "rs34809449" "0" "" "" "g.5254895G>A" "" "VUS" "" "0000602947" "0" "70" "11" "5276121" "5276121" "subst" "0" "03464" "HBG2_000617" "g.5276121T>G" "" "{DB:HbVar1019}, {PMID:Indrak K:1716997}" "" "-110 (A->C) Ggamma" "" "Germline" "" "rs35232648" "0" "" "" "g.5254891T>G" "" "VUS" "" "0000602948" "0" "70" "11" "5275611" "5275611" "subst" "0.0000284245" "03464" "HBG2_000618" "g.5275611T>C" "" "{DB:HbVar1115}, Wajcman H (D-2111-2010), {PMID:Wajcman:11791877}" "" "" "" "Germline" "" "rs34363111" "0" "" "" "g.5254381T>C" "" "VUS" "" "0000602949" "0" "70" "11" "5275722" "5275722" "subst" "0" "03464" "HBG2_000619" "g.5275722T>G" "" "{DB:HbVar1152}, {PMID:Van den Driessche:15645283}" "" "" "" "Germline" "" "rs35799058" "0" "" "" "g.5254492T>G" "" "VUS" "" "0000602950" "0" "70" "11" "5276125" "5276125" "subst" "0" "03464" "HBG2_000620" "g.5276125G>T" "" "{DB:HbVar1163}, {OMIM142250:0046}, {PMID:Zertal-Zidani:10335983}" "" "-114(C->A)Ggamma" "" "Germline" "" "rs34809449" "0" "" "" "g.5254895G>T" "" "VUS" "" "0000602951" "0" "70" "11" "5275897" "5275897" "subst" "0.000550695" "03464" "HBG2_000621" "g.5275897A>G" "" "{DB:HbVar2526}, {PMID:Lacan:16370494}" "" "" "" "Germline" "" "rs63751196" "0" "" "" "g.5254667A>G" "" "VUS" "" "0000602952" "0" "70" "11" "5275544" "5275544" "subst" "0" "03464" "HBG2_000622" "g.5275544T>C" "" "{DB:HbVar2617}, Francina A (E-3974-2010);" "" "" "" "Germline" "" "rs281864469" "0" "" "" "g.5254314T>C" "" "VUS" "" "0000602953" "0" "70" "11" "5275599" "5275599" "subst" "0.00000406068" "03464" "HBG2_000623" "g.5275599C>G" "" "{DB:HbVar2618}, Francina A (E-3974-2010);" "" "" "" "Germline" "" "rs281864470" "0" "" "" "g.5254369C>G" "" "VUS" "" "0000602954" "0" "70" "11" "5275529" "5275529" "subst" "0" "03464" "HBG2_000624" "g.5275529T>G" "" "{DB:HbVar2629}, Capalo R; Dutly F; Frischknecht H; Ruhs K; Saller E; Zimmermann U; HbVar A-2391-2010;" "" "" "" "Germline" "" "rs281864476" "0" "" "" "g.5254299T>G" "" "VUS" "" "0000602955" "0" "70" "11" "5275533" "5275533" "subst" "0" "03464" "HBG2_001588" "g.5275533C>G" "" "{DB:HbVar2653}," "" "" "" "Germline" "" "rs34876238" "0" "" "" "g.5254303C>G" "" "VUS" "" "0000602956" "0" "70" "11" "5276208" "5276208" "subst" "0" "03464" "HBG2_001650" "g.5276208G>A" "" "{DB:HbVar2709}, Barnaby C (E-6612-2010);" "" "G Gamma -197 C>T" "" "Germline" "" "rs281864523" "0" "" "" "g.5254978G>A" "" "VUS" "" "0000602957" "0" "70" "11" "5275596" "5275596" "subst" "0" "03464" "HBG2_001713" "g.5275596C>A" "" "{DB:HbVar2790}, {PMID:Mereu:19958193}" "" "" "" "Germline" "" "rs63751148" "0" "" "" "g.5254366C>A" "" "VUS" "" "0000602958" "0" "70" "11" "5274511" "5274511" "subst" "0" "03464" "HBG2_001725" "g.5274511T>C" "" "{DB:HbVar2809}, Brintrup J (G-1990-2010);Joly P; HbVar A-2391-2010;" "" "" "" "Germline" "" "rs281864575" "0" "" "" "g.5253281T>C" "" "VUS" "" "0000602959" "0" "70" "11" "5275557" "5275557" "subst" "0" "03464" "HBG2_001726" "g.5275557A>G" "" "{DB:HbVar2810}, Masala B (A-2272-2011), {PMID:Pellegrini:21763402}" "" "" "" "Germline" "" "rs281864576" "0" "" "" "g.5254327A>G" "" "VUS" "" "0000602960" "0" "70" "11" "5275955" "5275955" "subst" "0" "03464" "HBG2_001771" "g.5275955C>T" "" "{DB:HbVar2850}, FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010;" "" "" "" "Germline" "" "" "0" "" "" "g.5254725C>T" "" "VUS" "" "0000602961" "0" "70" "11" "5274541" "5274541" "subst" "0" "03464" "HBG2_001772" "g.5274541C>T" "" "{DB:HbVar2851}, FRANCINA A.; JOLY P. (E-4142-2010);HbVar A-2391-2010;" "" "" "" "Germline" "" "" "0" "" "" "g.5253311C>T" "" "VUS" "" "0000602962" "0" "70" "11" "5274634" "5274634" "subst" "0" "03464" "HBG2_001785" "g.5274634A>T" "" "{DB:HbVar2865}, Dr. U. Zimmermann ; Dr. H. Frischknecht ; Dr. R. Capalo; Dr. Elisabeth Saller; Dr. F. Dutly; Dr. G. Reinholz ; Dr. Joaquin Bintrup (G-1990-2010);Dr. Elisabeth Kohne; HbVar A-2391-2010;" "" "" "" "Germline" "" "" "0" "" "" "g.5253404A>T" "" "VUS" "" "0000602963" "0" "70" "11" "5275643" "5275643" "subst" "0" "03464" "HBG2_001824" "g.5275643C>T" "" "{DB:HbVar2906}, Pirastru; HbVar A-2391-2010;" "" "" "" "Germline" "" "" "0" "" "" "g.5254413C>T" "" "VUS" "" "0000602964" "0" "70" "11" "5275713" "5275713" "subst" "0" "03464" "HBG2_001832" "g.5275713A>G" "" "{DB:HbVar2915}, B. MASALA (A-2272-2011);" "" "" "" "Germline" "" "" "0" "" "" "g.5254483A>G" "" "VUS" "" "0000602965" "0" "70" "11" "5275725" "5275725" "subst" "0.0000122545" "03464" "HBG2_001833" "g.5275725A>C" "" "{DB:HbVar2916}, Dr. Philippe JOLY (E-4142-2010);" "" "" "" "Germline" "" "" "0" "" "" "g.5254495A>C" "" "VUS" "" "0000602966" "0" "70" "11" "5275635" "5275635" "subst" "0" "03464" "HBG2_001845" "g.5275635C>T" "" "{DB:HbVar2931}, Saller, E.; Speer, O.; Zurbriggen, K.; HbVar A-2391-2010, {PMID:Crowley MA:21561349}" "" "" "" "Germline" "" "" "0" "" "" "g.5254405C>T" "" "VUS" "" "0000602967" "0" "70" "11" "5275954" "5275954" "subst" "0" "03464" "HBG2_001988" "g.5275954C>T" "" "Hbvar-?, {PMID:Cui J:22384921}" "" "" "" "Germline" "" "" "0" "" "" "g.5254724C>T" "" "VUS" "" "0000602968" "0" "70" "11" "5275658" "5275658" "subst" "0.00000406121" "03464" "HBG2_001989" "g.5275658T>C" "" "Hbvar-?, {PMID:Kutlar F:25271994}" "" "" "" "Germline" "" "" "0" "" "" "g.5254428T>C" "" "VUS" "" "0000602969" "0" "70" "11" "5275874" "5275874" "subst" "0" "03464" "HBG2_002000" "g.5275874G>T" "" "Hbvar-?, {PMID:Bento C:22935660}" "" "" "" "Germline" "" "" "0" "" "" "g.5254644G>T" "" "VUS" "" "0000602970" "0" "70" "11" "5275646" "5275646" "subst" "0" "03464" "HBG2_002012" "g.5275646T>A" "" "Hbvar-?, {PMID:Dainer E:19065339}" "" "" "" "Germline" "" "" "0" "" "" "g.5254416T>A" "" "VUS" "" "0000602971" "0" "70" "11" "5275568" "5275568" "subst" "0" "03464" "HBG2_002036" "g.5275568C>T" "" "Hbvar-?, Maffei et al; HbVar A-2391-2010;" "" "" "" "Germline" "" "" "0" "" "" "g.5254338C>T" "" "VUS" "" "0000673575" "0" "90" "11" "5275647" "5275647" "subst" "0" "03695" "HBG2_000589" "g.5275647G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "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 HBG2 ## Count = 81 "{{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" "00009177" "10" "5365" "0" "5365" "0" "c.*4921del" "r.(?)" "p.(=)" "" "" "0000281231" "00009177" "10" "5367" "0" "5367" "0" "c.*4923A>T" "r.(=)" "p.(=)" "" "" "0000281232" "00009177" "10" "5369" "0" "5369" "0" "c.*4925dup" "r.(?)" "p.(=)" "" "" "0000281233" "00009177" "10" "4265" "0" "4265" "0" "c.*3821C>T" "r.(=)" "p.(=)" "" "" "0000544553" "00009177" "10" "498" "0" "499" "0" "c.*54_*55insA" "r.(=)" "p.(=)" "" "" "0000602898" "00009177" "70" "4" "0" "4" "0" "c.4G>T" "r.(?)" "p.(Gly2Cys)" "1" "Hb F-Malaysia" "0000602899" "00009177" "70" "17" "0" "17" "0" "c.17A>G" "r.(?)" "p.(Glu6Gly)" "1" "Hb F-Meinohama" "0000602900" "00009177" "70" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Asp8Asn)" "1" "Hb F-Auckland" "0000602901" "00009177" "70" "25" "0" "25" "0" "c.25A>R" "r.(?)" "p.Lys9Glu" "1" "Hb F-Albaicin" "0000602902" "00009177" "70" "38" "0" "38" "0" "c.38C>G" "r.(?)" "p.(Thr13Arg)" "1" "Hb F-Heather" "0000602903" "00009177" "70" "46" "0" "46" "0" "c.46T>C" "r.(?)" "p.(Trp16Arg)" "1" "Hb F-Catalonia" "0000602904" "00009177" "70" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "1" "Hb F-Melbourne" "0000602905" "00009177" "70" "64" "0" "64" "0" "c.64G>C" "r.(?)" "p.(Glu22Gln)" "1" "Hb F-Fuchu" "0000602906" "00009177" "70" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "1" "Hb F-Saskatoon" "0000602907" "00009177" "70" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Asp23Gly)" "1" "Hb F-Urumqi" "0000602908" "00009177" "70" "68" "0" "68" "0" "c.68A>T" "r.(?)" "p.(Asp23Val)" "1" "Hb F-Granada" "0000602909" "00009177" "70" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Gly26Glu)" "1" "Hb F-Cosenza" "0000602910" "00009177" "70" "79" "0" "79" "0" "c.79G>A" "r.(?)" "p.(Glu27Lys)" "1" "Hb F-Oakland" "0000602911" "00009177" "70" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Val35Ile)" "2" "Hb F-Tokyo" "0000602912" "00009177" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Lys)" "2" "Hb F-Austell" "0000602913" "00009177" "70" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Arg41Gly)" "2" "Hb F-Veleta" "0000602914" "00009177" "70" "125" "0" "125" "0" "c.125T>C" "r.(?)" "p.(Phe42Ser)" "2" "Hb F-Cincinnati" "0000602915" "00009177" "70" "133" "0" "133" "0" "c.133A>C" "r.(?)" "p.(Ser45Arg)" "2" "Hb F-Lodz" "0000602916" "00009177" "70" "167" "0" "167" "0" "c.167T>G" "r.(?)" "p.(Met56Arg)" "2" "Hb F-Kingston" "0000602917" "00009177" "70" "178" "0" "178" "0" "c.178A>C" "r.(?)" "p.(Lys60Gln)" "2" "Hb F-Sacromonte" "0000602918" "00009177" "70" "178" "0" "178" "0" "c.178A>G" "r.(?)" "p.(Lys60Glu)" "2" "Hb F-Emirates" "0000602919" "00009177" "70" "190" "0" "190" "0" "c.190C>T" "r.(?)" "p.(His64Tyr)" "2" "Hb F-M-Osaka" "0000602920" "00009177" "70" "198" "0" "198" "0" "c.198G>Y" "r.(?)" "p.Lys66Asn" "2" "Hb F-Clarke" "0000602921" "00009177" "70" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Lys67Arg)" "2" "Hb F-Shanghai" "0000602922" "00009177" "70" "199" "0" "199" "0" "c.199A>C" "r.(?)" "p.(Lys67Gln)" "2" "Hb F-Brooklyn" "0000602923" "00009177" "70" "217" "0" "217" "0" "c.217G>C" "r.(?)" "p.(Gly73Arg)" "2" "Hb F-Minoo" "0000602924" "00009177" "70" "227" "0" "227" "0" "c.227T>C" "r.(?)" "p.(Ile76Thr)" "2" "Hb F-Lesvos" "0000602925" "00009177" "70" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(His78Arg)" "2" "Hb F-Kennestone" "0000602926" "00009177" "70" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Asp81Asn)" "2" "Hb F-Marietta" "0000602927" "00009177" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(His93Tyr)" "2" "Hb F-M-Fort Ripley" "0000602928" "00009177" "70" "283" "0" "283" "0" "c.283G>A" "r.(?)" "p.(Asp95Asn)" "2" "Hb F-Columbus-GA" "0000602929" "00009177" "70" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "2" "Hb F-La Grange" "0000602930" "00009177" "70" "315" "0" "315" "0" "c.315G>C" "r.(?)" "p.(Lys105Asn)" "2" "Hb F-Macedonia-II" "0000602931" "00009177" "70" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(His118Arg)" "3" "Hb F-Malta-I" "0000602932" "00009177" "70" "361" "0" "361" "0" "c.361A>C" "r.(?)" "p.(Lys121Gln)" "3" "Hb F-Caltech" "0000602933" "00009177" "70" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Glu122Lys)" "3" "Hb F-Carlton" "0000602934" "00009177" "70" "377" "0" "377" "0" "c.377A>C" "r.(?)" "p.(Glu126Ala)" "3" "Hb F-Port Royal" "0000602935" "00009177" "70" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Trp131Gly)" "3" "Hb F-Poole" "0000602936" "00009177" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(His147Tyr)" "3" "Hb F-Onoda" "0000602937" "00009177" "70" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Glu7Lys)" "" "Hb F-Texas-II" "0000602938" "00009177" "70" "38" "0" "38" "0" "c.38C>A" "r.(?)" "p.(Thr13Lys)" "" "Hb F-Alexandra" "0000602939" "00009177" "70" "327" "0" "327" "0" "c.327T>A" "r.(?)" "p.(Asn109Lys)" "3" "Hb F-Ube" "0000602940" "00009177" "70" "60" "0" "60" "0" "c.60T>R" "r.(?)" "p.Asn20Lys" "" "Hb F-Ouled Rabah" "0000602941" "00009177" "70" "54" "0" "54" "0" "c.54G>Y" "r.(?)" "p.Lys18Asn" "" "Hb F-Clamart" "0000602942" "00009177" "70" "355" "0" "355" "0" "c.355T>C" "r.(?)" "p.(Phe119Leu)" "3" "Hb F-Calabria" "0000602943" "00009177" "70" "-255" "0" "-255" "0" "c.-255C>G" "r.(?)" "p.(?)" "_1" "nd-HPFH" "0000602944" "00009177" "70" "-228" "0" "-228" "0" "c.-228T>C" "r.(?)" "p.(?)" "_1" "nd-HPFH" "0000602945" "00009177" "70" "-167" "0" "-167" "0" "c.-167C>G" "r.(?)" "p.(?)" "_1" "Australian nd-HPFH" "0000602946" "00009177" "70" "-167" "0" "-167" "0" "c.-167C>T" "r.(?)" "p.(?)" "_1" "Japanese nd-HPFH" "0000602947" "00009177" "70" "-163" "0" "-163" "0" "c.-163A>C" "r.(?)" "p.(?)" "_1" "Czech nd-HPFH" "0000602948" "00009177" "70" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "2" "Hb F-Coigneres" "0000602949" "00009177" "70" "115" "0" "115" "0" "c.115A>C" "r.(?)" "p.(Thr39Pro)" "2" "Hb F-Bonheiden" "0000602950" "00009177" "70" "-167" "0" "-167" "0" "c.-167C>A" "r.(?)" "p.(?)" "_1" "Algerian nd-HPFH" "0000602951" "00009177" "70" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Val21Ala)" "" "Hb F-Bron" "0000602952" "00009177" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(His98Arg)" "2" "Hb F-Lyon" "0000602953" "00009177" "70" "238" "0" "238" "0" "c.238G>C" "r.(?)" "p.(Asp80His)" "2" "Hb F-Saint-Etienne" "0000602954" "00009177" "70" "308" "0" "308" "0" "c.308A>C" "r.(?)" "p.(Asn103Thr)" "2" "Hb F-Sarajevo" "0000602955" "00009177" "70" "304" "0" "304" "0" "c.304G>C" "r.(?)" "p.(Glu102Gln)" "2" "Hb F-Zheijang" "0000602956" "00009177" "70" "-250" "0" "-250" "0" "c.-250C>T" "r.(?)" "p.(?)" "_1" "" "0000602957" "00009177" "70" "241" "0" "241" "0" "c.241G>T" "r.(?)" "p.(Asp81Tyr)" "2" "Hb F-Paulinia" "0000602958" "00009177" "70" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(His147Arg)" "3" "Hb F-Istambul" "0000602959" "00009177" "70" "280" "0" "280" "0" "c.280T>C" "r.(?)" "p.(Cys94Arg)" "2" "Hb F-Monserrato-Sassari" "0000602960" "00009177" "70" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Gly2Ser)" "" "Hb F-Montchat" "0000602961" "00009177" "70" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Gly137Glu)" "3" "Hb F-Privas" "0000602962" "00009177" "70" "317" "0" "317" "0" "c.317T>A" "r.(?)" "p.(Leu106His)" "3" "Hb F-Feldkirch" "0000602963" "00009177" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Asp)" "2" "Hb F-Turritana" "0000602964" "00009177" "70" "124" "0" "124" "0" "c.124T>C" "r.(?)" "p.(Phe42Leu)" "2" "Hb F-Avellino" "0000602965" "00009177" "70" "112" "0" "112" "0" "c.112T>G" "r.(?)" "p.(Trp38Gly)" "2" "Hb F-Cobb II" "0000602966" "00009177" "70" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Val68Met)" "2" "Hb F-Heuried" "0000602967" "00009177" "70" "5" "0" "5" "0" "c.5G>A" "r.(?)" "p.(Gly2Asp)" "" "Hb F-Hayward" "0000602968" "00009177" "70" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Lys60Arg)" "2" "Hb F-Augusta GA" "0000602969" "00009177" "70" "85" "0" "85" "0" "c.85C>A" "r.(?)" "p.(Leu29Met)" "" "Hb F-Viseu" "0000602970" "00009177" "70" "191" "0" "191" "0" "c.191A>T" "r.(?)" "p.(His64Leu)" "2" "Hb F-Circleville" "0000602971" "00009177" "70" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Ser90Asn)" "2" "Hb F-Careggi" "0000673575" "00009177" "90" "190" "0" "190" "0" "c.190C> T" "r.(?)" "p.(His64Tyr)" "" "" "0000925435" "00009177" "30" "3888" "0" "3888" "0" "c.*3444G>A" "r.(=)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 75 "{{screeningid}}" "{{variantid}}" "0000270161" "0000602898" "0000270162" "0000602899" "0000270163" "0000602900" "0000270164" "0000602901" "0000270165" "0000602902" "0000270166" "0000602903" "0000270167" "0000602904" "0000270168" "0000602905" "0000270169" "0000602906" "0000270170" "0000602907" "0000270171" "0000602908" "0000270172" "0000602909" "0000270173" "0000602910" "0000270174" "0000602911" "0000270175" "0000602912" "0000270176" "0000602913" "0000270177" "0000602914" "0000270178" "0000602915" "0000270179" "0000602916" "0000270180" "0000602917" "0000270181" "0000602918" "0000270182" "0000602919" "0000270183" "0000602920" "0000270184" "0000602921" "0000270185" "0000602922" "0000270186" "0000602923" "0000270187" "0000602924" "0000270188" "0000602925" "0000270189" "0000602926" "0000270190" "0000602927" "0000270191" "0000602928" "0000270192" "0000602929" "0000270193" "0000602930" "0000270194" "0000602931" "0000270195" "0000602932" "0000270196" "0000602933" "0000270197" "0000602934" "0000270198" "0000602935" "0000270199" "0000602936" "0000270200" "0000602937" "0000270201" "0000602938" "0000270202" "0000602939" "0000270203" "0000602940" "0000270204" "0000602941" "0000270205" "0000602942" "0000270206" "0000602943" "0000270207" "0000602944" "0000270208" "0000602945" "0000270209" "0000602946" "0000270210" "0000602947" "0000270211" "0000602948" "0000270212" "0000602949" "0000270213" "0000602950" "0000270214" "0000602951" "0000270215" "0000602952" "0000270216" "0000602953" "0000270217" "0000602954" "0000270218" "0000602955" "0000270219" "0000602956" "0000270220" "0000602957" "0000270221" "0000602958" "0000270222" "0000602959" "0000270223" "0000602960" "0000270224" "0000602961" "0000270225" "0000602962" "0000270226" "0000602963" "0000270227" "0000602964" "0000270228" "0000602965" "0000270229" "0000602966" "0000270230" "0000602967" "0000270231" "0000602968" "0000270232" "0000602969" "0000270233" "0000602970" "0000270234" "0000602971" "0000307036" "0000673575"