### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HBD) # 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}}" "HBD" "hemoglobin, delta" "11" "p15.5" "unknown" "NG_000007.3" "UD_132118875491" "" "https://www.LOVD.nl/HBD" "HbVar - human hemoglobin variants and thalassemias \r\nThe Globin Gene Server " "1" "4829" "3045" "142000" "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" "http://databases.lovd.nl/shared/refseq/HBD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-11-06 00:00:00" "00006" "2017-05-24 09:18:03" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00009173" "HBD" "hemoglobin, delta" "001" "NM_000519.3" "" "NP_000510.1" "" "" "" "-195" "579" "444" "5255858" "5254059" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03506" "thalbeta" "thalassemia, beta (thalassemia, Hispanic gamma-delta-beta)" "" "613985" "" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "HBD" "05669" ## Individuals ## Do not remove or alter this header ## ## Count = 110 "{{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}}" "00072145" "" "" "" "1" "" "00006" "{PMID:Galanello 1990:1691668}" "" "M" "no" "Italy" "" "0" "" "" "" "" "00072146" "" "" "" "1" "" "00006" "{PMID:Phylipsen 2012:21922597}, {DOI:Phylipsen 2012:10.1002/humu.21612}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00105072" "" "" "" "1" "" "00006" "{PMID:Pirastru 2017:28553644}, {DOI:Pirastru 2017:10.1155/2017/1261972}" "refugee child, parents not available" "" "" "Syria" "" "0" "" "" "" "28553644-Pat" "00267134" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267135" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267136" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267137" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267138" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267139" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267140" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267141" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267142" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267143" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267144" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267145" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267146" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267147" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267148" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267149" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267150" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267151" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267152" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267153" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267154" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267155" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267156" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267157" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267158" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267159" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267160" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267161" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267162" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267163" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267164" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267165" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267166" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267167" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267168" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267169" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267170" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267171" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267172" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267173" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267174" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267175" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267176" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267177" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267178" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267179" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267180" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267181" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267182" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267183" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267184" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267185" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267186" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267187" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267188" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267189" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267190" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267191" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267192" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267193" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267194" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267195" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267196" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267197" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267198" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267199" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267200" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267201" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267202" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267203" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267204" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267205" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267206" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267207" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267208" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267209" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267210" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267211" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267212" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267213" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267214" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267215" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267216" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267217" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267218" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267219" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267220" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267221" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267222" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267223" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267224" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267225" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267226" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267227" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267228" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267229" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267230" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267231" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267232" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00267233" "" "" "" "1" "" "03464" "data from the Globin Gene Server (HbVar)" "" "" "" "" "" "0" "" "" "" "" "00271333" "" "" "" "1" "" "01401" "" "" "M" "?" "Italy" "" "0" "" "" "Italian" "" "00290453" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00444080" "" "" "" "1" "" "00006" "{PMID:Xu 2023:38037185}" "" "" "" "China" "" "0" "" "" "" "Pat1" "00444082" "" "" "" "1" "" "00006" "{PMID:Xu 2023:38037185}" "" "" "" "China" "" "0" "" "" "" "Pat3" "00444083" "" "" "" "1" "" "00006" "{PMID:Xu 2023:38037185}" "" "" "" "China" "" "0" "" "" "" "Pat4" "00444084" "" "" "" "1" "" "00006" "{PMID:Xu 2023:38037185}" "" "" "" "China" "" "0" "" "" "" "Pat5" "00444085" "" "" "" "1" "" "00006" "{PMID:Xu 2023:38037185}" "" "" "" "China" "" "0" "" "" "" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 110 "{{individualid}}" "{{diseaseid}}" "00072145" "03506" "00072146" "03506" "00105072" "03506" "00267134" "05669" "00267135" "05669" "00267136" "05669" "00267137" "05669" "00267138" "05669" "00267139" "05669" "00267140" "05669" "00267141" "05669" "00267142" "05669" "00267143" "05669" "00267144" "05669" "00267145" "05669" "00267146" "05669" "00267147" "05669" "00267148" "05669" "00267149" "05669" "00267150" "05669" "00267151" "05669" "00267152" "05669" "00267153" "05669" "00267154" "05669" "00267155" "05669" "00267156" "05669" "00267157" "05669" "00267158" "05669" "00267159" "05669" "00267160" "05669" "00267161" "05669" "00267162" "05669" "00267163" "05669" "00267164" "05669" "00267165" "05669" "00267166" "05669" "00267167" "05669" "00267168" "05669" "00267169" "05669" "00267170" "05669" "00267171" "05669" "00267172" "05669" "00267173" "05669" "00267174" "05669" "00267175" "05669" "00267176" "05669" "00267177" "05669" "00267178" "05669" "00267179" "05669" "00267180" "05669" "00267181" "05669" "00267182" "05669" "00267183" "05669" "00267184" "05669" "00267185" "05669" "00267186" "05669" "00267187" "05669" "00267188" "05669" "00267189" "05669" "00267190" "05669" "00267191" "05669" "00267192" "05669" "00267193" "05669" "00267194" "05669" "00267195" "05669" "00267196" "05669" "00267197" "05669" "00267198" "05669" "00267199" "05669" "00267200" "05669" "00267201" "05669" "00267202" "05669" "00267203" "05669" "00267204" "05669" "00267205" "05669" "00267206" "05669" "00267207" "05669" "00267208" "05669" "00267209" "05669" "00267210" "05669" "00267211" "05669" "00267212" "05669" "00267213" "05669" "00267214" "05669" "00267215" "05669" "00267216" "05669" "00267217" "05669" "00267218" "05669" "00267219" "05669" "00267220" "05669" "00267221" "05669" "00267222" "05669" "00267223" "05669" "00267224" "05669" "00267225" "05669" "00267226" "05669" "00267227" "05669" "00267228" "05669" "00267229" "05669" "00267230" "05669" "00267231" "05669" "00267232" "05669" "00267233" "05669" "00271333" "05669" "00290453" "00198" "00444080" "05669" "00444082" "00000" "00444083" "00000" "00444084" "00000" "00444085" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 03506, 05669 ## Count = 104 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000051851" "03506" "00072145" "00006" "Familial, autosomal recessive" "" "delta/beta thalassemia; low mean corpuscular volume (MCV; 65 fl), mean corpuscular hemoglobin (MCH; 20.5 pg), normal HbA, (2.1%), increased alpha/non-alpha globin chain synthesis (a/nona ratio, 2.l) classified as normal HbA2, beta-thalassemia heterozygote" "" "" "" "" "" "" "" "" "" "" "" "0000051852" "03506" "00072146" "00006" "Familial, autosomal recessive" "" "microcytic hypochromic anemia (HP:0004840), normal iron levels (-HP:0040130)" "" "" "" "" "" "" "" "" "" "" "" "0000082972" "03506" "00105072" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., ; 10y-severe hypochromic microcytic anemia, Hb level of 6.85 g/dL (normal 12–16), typical thalassemic red cell indices, abnormal HbF (0.57) and HbA (0.20) levels" "" "" "" "" "" "" "" "" "" "" "" "0000204985" "05669" "00267134" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204986" "05669" "00267135" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204987" "05669" "00267136" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204988" "05669" "00267137" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204989" "05669" "00267138" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204990" "05669" "00267139" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204991" "05669" "00267140" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204992" "05669" "00267141" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204993" "05669" "00267142" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204994" "05669" "00267143" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204995" "05669" "00267144" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "thal" "" "0000204996" "05669" "00267145" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204997" "05669" "00267146" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204998" "05669" "00267147" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000204999" "05669" "00267148" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205000" "05669" "00267149" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205001" "05669" "00267150" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205002" "05669" "00267151" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205003" "05669" "00267152" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205004" "05669" "00267153" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205005" "05669" "00267154" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205006" "05669" "00267155" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205007" "05669" "00267156" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "delta+ thal" "" "0000205008" "05669" "00267157" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205009" "05669" "00267158" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205010" "05669" "00267159" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205011" "05669" "00267160" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205012" "05669" "00267161" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta (0/+) thal" "" "0000205013" "05669" "00267162" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205014" "05669" "00267163" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205015" "05669" "00267164" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205016" "05669" "00267165" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205017" "05669" "00267166" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205018" "05669" "00267167" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205019" "05669" "00267168" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205020" "05669" "00267169" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205021" "05669" "00267170" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205022" "05669" "00267171" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205023" "05669" "00267172" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205024" "05669" "00267173" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta (0/+) thal" "" "0000205025" "05669" "00267174" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205026" "05669" "00267175" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205027" "05669" "00267176" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205028" "05669" "00267177" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205029" "05669" "00267178" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205030" "05669" "00267179" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205031" "05669" "00267180" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205032" "05669" "00267181" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205033" "05669" "00267182" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205034" "05669" "00267183" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta+ thal" "" "0000205035" "05669" "00267184" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205036" "05669" "00267185" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205037" "05669" "00267186" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205038" "05669" "00267187" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205039" "05669" "00267188" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205040" "05669" "00267189" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205041" "05669" "00267190" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205042" "05669" "00267191" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205043" "05669" "00267192" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205044" "05669" "00267193" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205045" "05669" "00267194" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205046" "05669" "00267195" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205047" "05669" "00267196" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205048" "05669" "00267197" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205049" "05669" "00267198" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205050" "05669" "00267199" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205051" "05669" "00267200" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205052" "05669" "00267201" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205053" "05669" "00267202" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205054" "05669" "00267203" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205055" "05669" "00267204" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205056" "05669" "00267205" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta (0/+) thal" "" "0000205057" "05669" "00267206" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205058" "05669" "00267207" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205059" "05669" "00267208" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205060" "05669" "00267209" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205061" "05669" "00267210" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta-beta0 thal" "" "0000205062" "05669" "00267211" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205063" "05669" "00267212" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205064" "05669" "00267213" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205065" "05669" "00267214" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205066" "05669" "00267215" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205067" "05669" "00267216" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205068" "05669" "00267217" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205069" "05669" "00267218" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "thalassemia" "delta0 thal" "" "0000205070" "05669" "00267219" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205071" "05669" "00267220" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormal hemoglobins" "" "0000205072" "05669" "00267221" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205073" "05669" "00267222" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205074" "05669" "00267223" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205075" "05669" "00267224" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205076" "05669" "00267225" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "rare variant" "" "0000205077" "05669" "00267226" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205078" "05669" "00267227" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205079" "05669" "00267228" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205080" "05669" "00267229" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205081" "05669" "00267230" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205082" "05669" "00267231" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205083" "05669" "00267232" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000205084" "05669" "00267233" "03464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hb variants" "" "0000207941" "05669" "00271333" "01401" "Familial, autosomal recessive" "06y" "" "" "06y" "" "" "" "" "" "" "Haemoglobin Delta Variant: HbA2 Pistoia" "Suspected delta thalassaemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 110 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000072299" "00072145" "1" "00006" "00006" "2016-05-29 21:14:59" "00006" "2016-05-29 22:08:15" "PCR;SEQ;Southern" "DNA" "" "" "0000072300" "00072146" "1" "00006" "00006" "2016-05-29 21:58:26" "" "" "arrayCNV;MLPA;PCR;SEQ" "DNA" "" "" "0000105545" "00105072" "1" "00006" "00006" "2017-06-17 16:02:40" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000268263" "00267134" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268264" "00267135" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268265" "00267136" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268266" "00267137" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268267" "00267138" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268268" "00267139" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268269" "00267140" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268270" "00267141" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268271" "00267142" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268272" "00267143" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268273" "00267144" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268274" "00267145" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268275" "00267146" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268276" "00267147" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268277" "00267148" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268278" "00267149" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268279" "00267150" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268280" "00267151" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268281" "00267152" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268282" "00267153" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268283" "00267154" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268284" "00267155" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268285" "00267156" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268286" "00267157" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268287" "00267158" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268288" "00267159" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268289" "00267160" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268290" "00267161" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268291" "00267162" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268292" "00267163" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268293" "00267164" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268294" "00267165" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268295" "00267166" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268296" "00267167" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268297" "00267168" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268298" "00267169" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268299" "00267170" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268300" "00267171" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268301" "00267172" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268302" "00267173" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268303" "00267174" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268304" "00267175" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268305" "00267176" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268306" "00267177" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268307" "00267178" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268308" "00267179" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268309" "00267180" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268310" "00267181" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268311" "00267182" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268312" "00267183" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268313" "00267184" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268314" "00267185" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268315" "00267186" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268316" "00267187" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268317" "00267188" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268318" "00267189" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268319" "00267190" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268320" "00267191" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268321" "00267192" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268322" "00267193" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268323" "00267194" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268324" "00267195" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268325" "00267196" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268326" "00267197" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268327" "00267198" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268328" "00267199" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268329" "00267200" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268330" "00267201" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268331" "00267202" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268332" "00267203" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268333" "00267204" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268334" "00267205" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268335" "00267206" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268336" "00267207" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268337" "00267208" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268338" "00267209" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268339" "00267210" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268340" "00267211" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268341" "00267212" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268342" "00267213" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268343" "00267214" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268344" "00267215" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268345" "00267216" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268346" "00267217" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268347" "00267218" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268348" "00267219" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268349" "00267220" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268350" "00267221" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268351" "00267222" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268352" "00267223" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268353" "00267224" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268354" "00267225" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268355" "00267226" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268356" "00267227" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268357" "00267228" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268358" "00267229" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268359" "00267230" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268360" "00267231" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268361" "00267232" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000268362" "00267233" "1" "03464" "00006" "2019-11-01 17:19:12" "" "" "SEQ" "DNA" "" "" "0000272484" "00271333" "1" "01401" "01401" "2019-12-18 16:04:50" "" "" "SEQ" "DNA" "Blood" "" "0000291621" "00290453" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000445577" "00444080" "1" "00006" "00006" "2023-12-15 21:26:00" "" "" "SEQ-PB" "DNA" "" "" "0000445579" "00444082" "1" "00006" "00006" "2023-12-15 22:15:25" "" "" "SEQ-PB" "DNA" "" "" "0000445580" "00444083" "1" "00006" "00006" "2023-12-15 22:16:56" "" "" "SEQ-PB" "DNA" "" "" "0000445581" "00444084" "1" "00006" "00006" "2023-12-15 22:17:09" "" "" "SEQ-PB" "DNA" "" "" "0000445582" "00444085" "1" "00006" "00006" "2023-12-15 22:17:20" "" "" "SEQ-PB" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 107 "{{screeningid}}" "{{geneid}}" "0000072299" "HBB" "0000072299" "HBD" "0000072300" "HBB" "0000072300" "HBD" "0000105545" "HBB" "0000105545" "HBD" "0000268263" "HBD" "0000268264" "HBD" "0000268265" "HBD" "0000268266" "HBD" "0000268267" "HBD" "0000268268" "HBD" "0000268269" "HBD" "0000268270" "HBD" "0000268271" "HBD" "0000268272" "HBD" "0000268273" "HBD" "0000268274" "HBD" "0000268275" "HBD" "0000268276" "HBD" "0000268277" "HBD" "0000268278" "HBD" "0000268279" "HBD" "0000268280" "HBD" "0000268281" "HBD" "0000268282" "HBD" "0000268283" "HBD" "0000268284" "HBD" "0000268285" "HBD" "0000268286" "HBD" "0000268287" "HBD" "0000268288" "HBD" "0000268289" "HBD" "0000268290" "HBD" "0000268291" "HBD" "0000268292" "HBD" "0000268293" "HBD" "0000268294" "HBD" "0000268295" "HBD" "0000268296" "HBD" "0000268297" "HBD" "0000268298" "HBD" "0000268299" "HBD" "0000268300" "HBD" "0000268301" "HBD" "0000268302" "HBD" "0000268303" "HBD" "0000268304" "HBD" "0000268305" "HBD" "0000268306" "HBD" "0000268307" "HBD" "0000268308" "HBD" "0000268309" "HBD" "0000268310" "HBD" "0000268311" "HBD" "0000268312" "HBD" "0000268313" "HBD" "0000268314" "HBD" "0000268315" "HBD" "0000268316" "HBD" "0000268317" "HBD" "0000268318" "HBD" "0000268319" "HBD" "0000268320" "HBD" "0000268321" "HBD" "0000268322" "HBD" "0000268323" "HBD" "0000268324" "HBD" "0000268325" "HBD" "0000268326" "HBD" "0000268327" "HBD" "0000268328" "HBD" "0000268329" "HBD" "0000268330" "HBD" "0000268331" "HBD" "0000268332" "HBD" "0000268333" "HBD" "0000268334" "HBD" "0000268335" "HBD" "0000268336" "HBD" "0000268337" "HBD" "0000268338" "HBD" "0000268339" "HBD" "0000268340" "HBD" "0000268341" "HBD" "0000268342" "HBD" "0000268343" "HBD" "0000268344" "HBD" "0000268345" "HBD" "0000268346" "HBD" "0000268347" "HBD" "0000268348" "HBD" "0000268349" "HBD" "0000268350" "HBD" "0000268351" "HBD" "0000268352" "HBD" "0000268353" "HBD" "0000268354" "HBD" "0000268355" "HBD" "0000268356" "HBD" "0000268357" "HBD" "0000268358" "HBD" "0000268359" "HBD" "0000268360" "HBD" "0000268361" "HBD" "0000268362" "HBD" "0000272484" "HBD" ## 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 = 112 "{{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}}" "0000115837" "1" "90" "11" "5254403" "5261610" "del" "0" "00006" "HBD_000001" "g.5254403_5261610del" "" "{PMID:Galanello 1990:1691668}" "" "" "7.2 kb delta thalassemia deletion" "Germline" "" "" "0" "" "" "g.5233173_5240380del" "" "pathogenic" "" "0000115839" "1" "90" "11" "5254403" "5261610" "del" "0" "00006" "HBD_000001" "g.5254403_5261610del" "" "{PMID:Phylipsen 2012:21922597}, {DOI:Phylipsen 2012:10.1002/humu.21612}" "" "5210979_5218186del (hg18)" "Corfu delta-thalassemia deletion" "Germline" "" "" "0" "" "" "g.5233173_5240380del" "" "pathogenic" "" "0000170995" "3" "90" "11" "5247858" "5255271" "del" "0" "00006" "HBB_003189" "g.5247858_5255271del" "" "{PMID:Pirastru 2017:28553644}, {DOI:Pirastru 2017:10.1155/2017/1261972}" "" "" "Hb Lepore Boston Washington" "Germline" "" "" "0" "" "" "g.5226628_5234041del" "" "pathogenic" "" "0000600940" "0" "70" "11" "5255659" "5255659" "subst" "4.06696E-6" "03464" "HBD_001382" "g.5255659A>G" "" "{DB:HbVar650}, {PMID:Harano T:1787103}, {OMIM142000:0027}, {EXP:003096}" "" "" "" "Germline" "" "rs34991152" "0" "" "" "g.5234429A>G" "" "VUS" "" "0000600941" "0" "70" "11" "5255656" "5255656" "subst" "4.06696E-6" "03464" "HBD_001383" "g.5255656T>C" "" "{DB:HbVar651}, Fairbanks VF; HbVar A-2391-2010, {PMID:Vella:5050942}, {PMID:Jones RT:5909792}, {OMIM142000:0014}, {EXP:003097}" "" "" "" "Germline" "" "rs35433207" "0" "" "" "g.5234426T>C" "" "VUS" "" "0000600942" "0" "70" "11" "5255629" "5255629" "subst" "4.06547E-6" "03464" "HBD_001384" "g.5255629A>C" "" "{DB:HbVar652}, {PMID:Drakoulakou O:9101295}" "" "" "" "Germline" "" "rs34090605" "0" "" "" "g.5234399A>C" "" "VUS" "" "0000600943" "0" "70" "11" "5255625" "5255625" "subst" "8.53714E-5" "03464" "HBD_001385" "g.5255625A>T" "" "{DB:HbVar653}, {PMID:Jong WW de:4852213}, {PMID:Ranney HM:5824070}, {PMID:Aksoy M:5956225}, {PMID:Vella:5050942}, {OMIM142000:0012}, {EXP:003098}" "" "" "" "Germline" "" "rs34313675" "0" "" "" "g.5234395A>T" "" "VUS" "" "0000600944" "0" "70" "11" "5255615" "5255615" "subst" "0.00071953" "03464" "HBD_001386" "g.5255615C>G" "" "{DB:HbVar654}, {PMID:Codrington JF:1698102}, {PMID:Jones RT:6058951}, {PMID:Ball EW:5956309}, {OMIM142000:0001}, {EXP:003099}" "" "" "" "Germline" "" "rs34012192" "0" "" "" "g.5234385C>G" "" "VUS" "" "0000600945" "0" "70" "11" "5255602" "5255602" "subst" "0" "03464" "HBD_001387" "g.5255602A>T" "" "{DB:HbVar655}, {PMID:Rieder RF:952968}, {OMIM142000:0013}, {EXP:003100}" "" "" "" "Germline" "" "rs34093840" "0" "" "" "g.5234372A>T" "" "VUS" "" "0000600946" "0" "70" "11" "5255596" "5255596" "subst" "8.13008E-6" "03464" "HBD_001388" "g.5255596G>T" "" "{DB:HbVar656}, {PMID:Lee RC:14236725}, {PMID:Ranney HM:13973023}, {PMID:Jones RT:6058951}, {OMIM142000:0007}, {EXP:003101}" "" "" "" "Germline" "" "rs35395083" "0" "" "" "g.5234366G>T" "" "VUS" "" "0000600947" "0" "70" "11" "5255590" "5255590" "subst" "0" "03464" "HBD_001389" "g.5255590C>T" "" "{DB:HbVar657}, {PMID:Brennan SO:6469695}, {OMIM142000:0015}, {EXP:003102}" "" "" "" "Germline" "" "rs34460332" "0" "" "" "g.5234360C>T" "" "VUS" "" "0000600948" "0" "70" "11" "5255587" "5255587" "subst" "0" "03464" "HBD_001390" "g.5255587C>T" "" "{DB:HbVar658}, {PMID:Ohba Y:3841531}, {OMIM142000:0017}, {EXP:003103}" "" "" "" "Germline" "" "rs34389944" "0" "" "" "g.5234357C>T" "" "VUS" "" "0000600949" "0" "70" "11" "5255583" "5255583" "subst" "4.06319E-6" "03464" "HBD_001391" "g.5255583C>G" "" "{DB:HbVar659}, {PMID:Loudianos G:8401543}, {OMIM142000:0034}, {EXP:003104}" "" "" "" "Germline" "" "rs34289459" "0" "" "" "g.5234353C>G" "" "VUS" "" "0000600950" "0" "70" "11" "5255582" "5255582" "subst" "0.00215349" "03464" "HBD_001392" "g.5255582C>A" "" "{DB:HbVar660}, {PMID:Angioletti MD:12402333}, {PMID:Oggiano L:7504402}, {PMID:Loudianos G:1688506}, {OMIM142000:0028}, {EXP:003105}" "" "" "" "Germline" "" "rs35152987" "0" "" "" "g.5234352C>A" "" "VUS" "" "0000600951" "0" "70" "11" "5255426" "5255426" "subst" "0" "03464" "HBD_001393" "g.5255426G>T" "" "{DB:HbVar661}, {PMID:Angioletti MD:12402333}, {OMIM142000:0039}" "" "" "" "Germline" "" "rs34383555" "0" "" "" "g.5234196G>T" "" "VUS" "" "0000600952" "0" "70" "11" "5255406" "5255406" "subst" "0" "03464" "HBD_001394" "g.5255406C>T" "" "{DB:HbVar662}, {PMID:Sharma RS:4850239}, {OMIM142000:0011}, {EXP:003107}" "" "" "" "Germline" "" "rs35166721" "0" "" "" "g.5234176C>T" "" "VUS" "" "0000600953" "0" "70" "11" "5255405" "5255405" "subst" "0" "03464" "HBD_001395" "g.5255405T>C" "" "{DB:HbVar663}, {PMID:Papadakis M:8537235}, {OMIM142000:0037}, {EXP:003106}" "" "" "" "Germline" "" "rs36084266" "0" "" "" "g.5234175T>C" "" "VUS" "" "0000600954" "0" "70" "11" "5255393" "5255393" "subst" "0" "03464" "HBD_001396" "g.5255393T>A" "" "{DB:HbVar664}, {PMID:Leung H:1802883}, {OMIM142000:0025}, {EXP:003108}" "" "" "" "Germline" "" "rs34977235" "0" "" "" "g.5234163T>A" "" "VUS" "" "0000600955" "0" "70" "11" "5255381" "5255381" "subst" "0" "03464" "HBD_001397" "g.5255381G>C" "" "{DB:HbVar665}, {PMID:Alberti R:640854}, {OMIM142000:0002}, {EXP:003109}" "" "" "" "Germline" "" "rs34489183" "0" "" "" "g.5234151G>C" "" "VUS" "" "0000600956" "0" "70" "11" "5255328" "5255328" "subst" "0" "03464" "HBD_001398" "g.5255328C>G" "" "{DB:HbVar666}, {PMID:Ganesan J:97892}, {PMID:Eng LI:4995018}, {PMID:Lie-Injo LE:5701618}, {OMIM142000:0009}, {EXP:003110}" "" "" "" "Germline" "" "rs35913713" "0" "" "" "g.5234098C>G" "" "VUS" "" "0000600957" "0" "70" "11" "5255310" "5255310" "subst" "4.0622E-6" "03464" "HBD_001399" "g.5255310G>C" "" "{DB:HbVar667}, {PMID:Molchanova TP:8330984}, {OMIM142000:0033}, {EXP:003111}" "" "" "" "Germline" "" "rs34430836" "0" "" "" "g.5234080G>C" "" "VUS" "" "0000600958" "0" "70" "11" "5255285" "5255285" "subst" "4.0624E-6" "03464" "HBD_001400" "g.5255285C>T" "" "{DB:HbVar668}, Harano T; HbVar A-2391-2010" "" "" "" "Germline" "" "rs34373781" "0" "" "" "g.5234055C>T" "" "VUS" "" "0000600959" "0" "70" "11" "5255279" "5255279" "subst" "4.06213E-6" "03464" "HBD_001401" "g.5255279A>G" "" "{DB:HbVar669}, {PMID:Drakoulakou O:9101295}" "" "" "" "Germline" "" "rs35633566" "0" "" "" "g.5234049A>G" "" "VUS" "" "0000600960" "0" "70" "11" "5255264" "5255264" "subst" "0" "03464" "HBD_001402" "g.5255264T>A" "" "{DB:HbVar670}, {PMID:Fujita S:2869009}, {OMIM142000:0008}, {EXP:003112}" "" "" "" "Germline" "" "rs34420481" "0" "" "" "g.5234034T>A" "" "VUS" "" "0000600961" "0" "70" "11" "5255256" "5255256" "subst" "4.0625E-6" "03464" "HBD_001403" "g.5255256A>C" "" "{DB:HbVar671}, {PMID:Galanello R:7713748}, {OMIM142000:0036}, {EXP:014277}" "" "" "" "Germline" "" "rs28933077" "0" "" "" "g.5234026A>C" "" "VUS" "" "0000600962" "0" "70" "11" "5255241" "5255241" "subst" "5.28073E-5" "03464" "HBD_001404" "g.5255241C>T" "" "{DB:HbVar672}, {PMID:Codrington JF:2477064}, {OMIM142000:0016}, {EXP:003113}" "" "" "" "Germline" "" "rs28933076" "0" "" "" "g.5234011C>T" "" "VUS" "" "0000600963" "0" "70" "11" "5255238" "5255238" "subst" "0" "03464" "HBD_001405" "g.5255238C>T" "" "{DB:HbVar673}, {PMID:Salkie ML:7129931}, {OMIM142000:0004}, {EXP:003114}" "" "" "" "Germline" "" "rs35329985" "0" "" "" "g.5234008C>T" "" "VUS" "" "0000600964" "0" "70" "11" "5254288" "5254288" "subst" "2.43978E-5" "03464" "HBD_001406" "g.5254288C>T" "" "{DB:HbVar674}, {PMID:Sharma RS:1148221}, {OMIM142000:0005}, {EXP:003116}" "" "" "" "Germline" "" "rs34536353" "0" "" "" "g.5233058C>T" "" "VUS" "" "0000600965" "0" "70" "11" "5254289" "5254289" "subst" "8.13206E-6" "03464" "HBD_001407" "g.5254289G>A" "" "{DB:HbVar675}, {PMID:Trifillis P:1742490}, {OMIM142000:0024}, {EXP:003115}" "" "" "" "Germline" "" "rs33971270" "0" "" "" "g.5233059G>A" "" "VUS" "" "0000600966" "0" "70" "11" "5254286" "5254286" "subst" "0" "03464" "HBD_001408" "g.5254286T>C" "" "{DB:HbVar676}, {PMID:Qin WB:8294205}, {EXP:003117}" "" "" "" "Germline" "" "rs36049174" "0" "" "" "g.5233056T>C" "" "VUS" "" "0000600967" "0" "70" "11" "5255790" "5255790" "subst" "0" "03464" "HBD_001415" "g.5255790A>G" "" "{DB:HbVar991}, {PMID:Matsuda M:1515647}, {PMID:Nakamura T:3476164}, {PMID:Ohta Y:6158498}, {OMIM142000:0030}" "" "-77 (T->C) delta (0 or + unclear)" "" "Germline" "" "rs34975911" "0" "" "" "g.5234560A>G" "" "VUS" "" "0000600968" "0" "70" "11" "5255778" "5255778" "subst" "0" "03464" "HBD_001416" "g.5255778T>C" "" "{DB:HbVar992}, {PMID:Papadakis M:9143928}" "" "-65 (A->G) delta+" "" "Germline" "" "rs35781729" "0" "" "" "g.5234548T>C" "" "VUS" "" "0000600969" "0" "70" "11" "5255768" "5255768" "subst" "0" "03464" "HBD_001417" "g.5255768A>G" "" "{DB:HbVar993}, {PMID:Papadakis M:9143928}" "" "-55 (T->C) delta+" "" "Germline" "" "rs34796568" "0" "" "" "g.5234538A>G" "" "VUS" "" "0000600970" "0" "70" "11" "5255749" "5255749" "subst" "0" "03464" "HBD_001418" "g.5255749G>T" "" "{DB:HbVar994}, {PMID:Papadakis M:9143928}" "" "-36 (C->A); probably delta+" "" "Germline" "" "rs34235091" "0" "" "" "g.5234519G>T" "" "VUS" "" "0000600971" "0" "70" "11" "5255650" "5255650" "subst" "0.00142333" "03464" "HBD_001419" "g.5255650G>A" "" "{DB:HbVar995}, {PMID:Trifillis P:8364213}, {EXP:018740}" "" "codon 4 (ACT->ATT) delta+" "" "Germline" "" "rs35406175" "0" "" "" "g.5234420G>A" "" "VUS" "" "0000600972" "0" "70" "11" "5255572" "5255572" "subst" "0" "03464" "HBD_001420" "g.5255572C>G" "" "{DB:HbVar996}, {PMID:Pirastu M:2291578}, {OMIM142000:0029}" "" "codon 30 (AGG->ACG) delta0" "" "Germline" "" "rs35654785" "0" "" "" "g.5234342C>G" "" "VUS" "" "0000600973" "0" "70" "11" "5255570" "5255570" "subst" "1.21892E-5" "03464" "HBD_001421" "g.5255570A>G" "" "{DB:HbVar997}, {PMID:Moi P:3401592}" "" "IVS-I-2 (T->C) delta0" "" "Germline" "" "rs35540211" "0" "" "" "g.5234340A>G" "" "VUS" "" "0000600974" "0" "70" "11" "5255423" "5255423" "subst" "0" "03464" "HBD_001422" "g.5255423C>T" "" "{DB:HbVar998}, {PMID:Gasperini D:8118467}, {OMIM142000:0035}" "" "codon 37 (TGG->TAG) delta0" "" "Germline" "" "rs35887507" "0" "" "" "g.5234193C>T" "" "VUS" "" "0000600975" "0" "70" "11" "5255358" "5255358" "del" "0" "03464" "HBD_001423" "g.5255358del" "" "{DB:HbVar999}, {PMID:Olds RJ:1873227}, {OMIM142000:0023}" "" "codon 59 (-A); AAG(Lys)->-AG delta0" "" "Germline" "" "rs34224604" "0" "" "" "g.5234128del" "" "VUS" "" "0000600976" "0" "70" "11" "5255266" "5255266" "dup" "0" "03464" "HBD_001424" "g.5255266dup" "" "{DB:HbVar1000}, {PMID:Losekoot M:2767680}" "" "codon 91 (+T) delta0, 270_271insT" "" "Germline" "" "rs63750041" "0" "" "" "g.5234036dup" "" "VUS" "" "0000600977" "0" "70" "11" "5254324" "5254324" "subst" "0" "03464" "HBD_001425" "g.5254324T>G" "" "{DB:HbVar1001}, {PMID:Trifillis P:1742490}" "" "IVS-II-897, A->C; AG^CT->CGCT delta0" "" "Germline" "" "rs36023765" "0" "" "" "g.5233094T>G" "" "VUS" "" "0000600978" "0" "70" "11" "5254289" "5254289" "subst" "8.13206E-6" "03464" "HBD_001426" "g.5254289G>A" "" "{DB:HbVar1002}, {PMID:Trifillis P:1742490}" "" "codon 116 (CGC->TGC) delta+" "" "Germline" "" "" "0" "" "" "g.5233059G>A" "" "VUS" "" "0000600979" "0" "70" "11" "5253995" "5253995" "subst" "0" "03464" "HBD_001428" "g.5253995C>T" "" "{DB:HbVar1004}, {PMID:Moi P:1309671}, {OMIM142000:0026}" "" "poly A +69 (G->A) delta" "" "Germline" "" "rs35324967" "0" "" "" "g.5232765C>T" "" "VUS" "" "0000600980" "0" "70" "11" "5254404" "5261610" "del" "0" "03464" "HBD_001429" "g.5254404_5261610del" "" "{DB:HbVar1005}, {PMID:Ribeiro ML:8460650}, {PMID:Galanello R:1691668}, {PMID:Kulozik AE:2827815}" "" "NC_000011.9:g.5254403_5261609del" "-7.2 kb; the Corfu deletion delta0" "Germline" "" "" "0" "" "" "g.5233174_5240380del" "" "pathogenic" "" "0000600981" "0" "70" "11" "5255639" "5255639" "subst" "0" "03464" "HBD_001430" "g.5255639T>C" "" "{DB:HbVar1107}, Harano T; HbVar A-2391-2010" "" "" "" "Germline" "" "rs35345203" "0" "" "" "g.5234409T>C" "" "VUS" "" "0000600982" "0" "70" "11" "5255362" "5255362" "subst" "4.06306E-6" "03464" "HBD_001432" "g.5255362G>T" "" "{DB:HbVar1167}, {PMID:Angioletti MD:12402333}, {OMIM142000:0040}" "" "" "" "Germline" "" "rs35666685" "0" "" "" "g.5234132G>T" "" "VUS" "" "0000600983" "0" "70" "11" "5255271" "5255271" "subst" "0" "03464" "HBD_001433" "g.5255271G>C" "" "{DB:HbVar1168}, {PMID:Angioletti MD:12402333}, {OMIM142000:0041}" "" "" "" "Germline" "" "rs34933313" "0" "" "" "g.5234041G>C" "" "VUS" "" "0000600984" "0" "70" "11" "5255221" "5255221" "subst" "0" "03464" "HBD_001434" "g.5255221C>A" "" "{DB:HbVar1169}, {PMID:Angioletti MD:12402333}, {OMIM142000:0042}" "" "" "" "Germline" "" "rs34390965" "0" "" "" "g.5233991C>A" "" "VUS" "" "0000600985" "0" "70" "11" "5255789" "5255789" "subst" "0" "03464" "HBD_001435" "g.5255789T>A" "" "{DB:HbVar1179}, {PMID:Angioletti MD:12402333}, {OMIM142000:0044}" "" "-76 (A->T) delta0" "" "Germline" "" "rs35661168" "0" "" "" "g.5234559T>A" "" "VUS" "" "0000600986" "0" "70" "11" "5255215" "5255215" "subst" "1.21875E-5" "03464" "HBD_001436" "g.5255215A>T" "" "{DB:HbVar1180}, {PMID:Angioletti MD:12402333}, {OMIM142000:0043}" "" "delta IVSII-6 T->A" "" "Germline" "" "rs63750345" "0" "" "" "g.5233985A>T" "" "VUS" "" "0000600987" "0" "70" "11" "5255744" "5255744" "subst" "0" "03464" "HBD_001437" "g.5255744T>C" "" "{DB:HbVar1186}, Frischknecht H; HbVar A-2391-2010,{PMID:Frischknecht:15921167}, {OMIM142000:0046}" "" "-31 (A->G) delta+" "" "Germline" "" "rs35518301" "0" "" "" "g.5234514T>C" "" "VUS" "" "0000600988" "0" "70" "11" "5255743" "5255743" "subst" "0" "03464" "HBD_001438" "g.5255743A>G" "" "{DB:HbVar1194}, Papachatzopoulou A (E-6551-2010); Papadakis M, (B-1874-2010)" "" "-30 (T->C); delta+" "" "Germline" "" "rs34166473" "0" "" "" "g.5234513A>G" "" "VUS" "" "0000600989" "0" "70" "11" "5254327" "5254327" "subst" "0.000203434" "03464" "HBD_001439" "g.5254327G>A" "" "{DB:HbVar1196}, Papachatzopoulou A (E-6551-2010); Papadakis M, (B-1874-2010)" "" "IVS II-894 (C->T); delta+" "" "Germline" "" "rs35769679" "0" "" "" "g.5233097G>A" "" "VUS" "" "0000600990" "0" "70" "11" "5255444" "5255444" "subst" "2.43922E-5" "03464" "HBD_001440" "g.5255444C>G" "" "{DB:HbVar1197}, Papachatzopoulou A (E-6551-2010); Papadakis M, (B-1874-2010)" "" "IVS-I 3\' AG->AC; delta0" "" "Germline" "" "rs35408031" "0" "" "" "g.5234214C>G" "" "VUS" "" "0000600991" "0" "70" "11" "5255356" "5255356" "subst" "0" "03464" "HBD_001442" "g.5255356C>G" "" "{DB:HbVar1238}, {PMID:Moumni I:17365002}" "" "" "" "Germline" "" "rs34626118" "0" "" "" "g.5234126C>G" "" "VUS" "" "0000600992" "0" "70" "11" "5255623" "5255623" "subst" "0" "03464" "HBD_001443" "g.5255623G>T" "" "{DB:HbVar1248}, {PMID:Walker:16370490}, {PMID:Giambona:17145605}" "" "" "" "Germline" "" "rs35291639" "0" "" "" "g.5234393G>T" "" "VUS" "" "0000600993" "0" "70" "11" "5255656" "5255656" "subst" "0" "03464" "HBD_001444" "g.5255656T>A" "" "{DB:HbVar2550}, {PMID:Giambona A:17145605}" "" "" "" "Germline" "" "rs35433207" "0" "" "" "g.5234426T>A" "" "VUS" "" "0000600994" "0" "70" "11" "5255324" "5255324" "subst" "1.62493E-5" "03464" "HBD_001445" "g.5255324G>C" "" "{DB:HbVar2554}, {PMID:Giambona A:17145605}" "" "" "" "Germline" "" "rs63750423" "0" "" "" "g.5234094G>C" "" "VUS" "" "0000600995" "0" "70" "11" "5255274" "5255274" "subst" "0" "03464" "HBD_001446" "g.5255274G>T" "" "{DB:HbVar2555}, {PMID:Giambona A:17145605}" "" "" "" "Germline" "" "rs63750674" "0" "" "" "g.5234044G>T" "" "VUS" "" "0000600996" "0" "70" "11" "5255641" "5255641" "subst" "0" "03464" "HBD_001448" "g.5255641T>G" "" "{DB:HbVar2576}" "" "" "" "Germline" "" "rs63751203" "0" "" "" "g.5234411T>G" "" "VUS" "" "0000600997" "0" "70" "11" "5255650" "5255650" "subst" "2.44E-5" "03464" "HBD_001449" "g.5255650G>C" "" "{DB:HbVar2615}, Dutly, F; Frischknecht, H; Troxler, H. ; HbVar A-2391-2010" "" "" "" "Germline" "" "rs35406175" "0" "" "" "g.5234420G>C" "" "VUS" "" "0000600998" "0" "70" "11" "5255357" "5255357" "subst" "0" "03464" "HBD_001450" "g.5255357T>A" "" "{DB:HbVar2625}, Couprie N.; Francina A (E-3974-2010);Joly P (E-4142-2010);HbVar A-2391-2010" "" "" "" "Germline" "" "rs281864474" "0" "" "" "g.5234127T>A" "" "VUS" "" "0000600999" "0" "70" "11" "5247862" "5255276" "del" "0" "03464" "HBD_001458" "g.5247862_5255276del" "" "{DB:HbVar745}, {PMID:Adams JG 3d:7123235}, {OMIM142000:0022}" "" "NC_000011.9:g.[5248185_5255597del(;)5247861_5255275del]" "" "Germline" "" "" "0" "" "" "g.5226632_5234046del" "" "VUS" "" "0000601000" "0" "70" "11" "5248185" "5255597" "dup" "0" "03464" "HBD_001460" "g.5248185_5255597dup" "" "{DB:HbVar746}, {PMID:Roberts:4516937}, {PMID:Ohta Y:5288810}, {OMIM141900:0179}" "" "" "" "Germline" "" "" "0" "" "" "g.5226955_5234367dup" "" "VUS" "" "0000601001" "0" "70" "11" "5255220" "5255220" "subst" "8.12447E-6" "03464" "HBD_001614" "g.5255220C>T" "" "{DB:HbVar2656}, Frischknecht H; HbVar A-2391-2010" "" "IVS-II-1(G>A)delta0" "" "Germline" "" "rs281864492" "0" "" "" "g.5233990C>T" "" "VUS" "" "0000601002" "0" "70" "11" "5255661" "5255661" "subst" "8.13484E-6" "03464" "HBD_001615" "g.5255661C>T" "" "{DB:HbVar2659}, Dutly F; Frischknecht H; Weibel T; HbVar A-2391-2010, {EXP:018740}" "" "Met1Ile" "" "Germline" "" "rs281864493" "0" "" "" "g.5234431C>T" "" "VUS" "" "0000601003" "0" "70" "11" "5255416" "5255416" "subst" "0" "03464" "HBD_001616" "g.5255416C>G" "" "{DB:HbVar2676}, Francina A (E-3974-2010)" "" "" "" "Germline" "" "rs281864505" "0" "" "" "g.5234186C>G" "" "VUS" "" "0000601004" "0" "70" "11" "5255312" "5255312" "subst" "4.06227E-6" "03464" "HBD_001680" "g.5255312C>T" "" "{DB:HbVar2680}, Coviello D.; Ivaldi G. ; Leone D; Moruzzi F.; Pascotto D.; Paventa R.; HbVar A-2391-2010" "" "" "" "Germline" "" "rs281864507" "0" "" "" "g.5234082C>T" "" "VUS" "" "0000601005" "0" "70" "11" "5255640" "5255640" "subst" "0" "03464" "HBD_001681" "g.5255640C>G" "" "{DB:HbVar2681}, Coviello D.; Geremia L.; Ivaldi G.; Leone D.; Moruzzi F.; Pascotto D.; Zanolli F.A.; HbVar A-2391-2010" "" "" "" "Germline" "" "rs281864508" "0" "" "" "g.5234410C>G" "" "VUS" "" "0000601006" "0" "70" "11" "5255657" "5255657" "subst" "2.03358E-5" "03464" "HBD_001682" "g.5255657G>T" "" "{DB:HbVar2685}, Old J (E-5816-2010)" "" "codon 2 (CAT>AAT)" "" "Germline" "" "rs281864510" "0" "" "" "g.5234427G>T" "" "VUS" "" "0000601007" "0" "70" "11" "5255379" "5255379" "subst" "4.06286E-6" "03464" "HBD_001683" "g.5255379C>G" "" "{DB:HbVar2686}, Old J (E-5816-2010)" "" "codon 52 (GAT>CAT)" "" "Germline" "" "rs281864511" "0" "" "" "g.5234149C>G" "" "VUS" "" "0000601008" "0" "70" "11" "5255292" "5255292" "subst" "3.24965E-5" "03464" "HBD_001684" "g.5255292G>A" "" "{DB:HbVar2688}, JOLY Philippe (E-4142-2010);Old J (E-5816-2010)" "" "" "" "Germline" "" "rs281864512" "0" "" "" "g.5234062G>A" "" "VUS" "" "0000601009" "0" "70" "11" "5255264" "5255264" "subst" "0" "03464" "HBD_001686" "g.5255264T>C" "" "{DB:HbVar2746}, Gallivan M (A-9986-2010)" "" "" "" "Germline" "" "rs34420481" "0" "" "" "g.5234034T>C" "" "VUS" "" "0000601010" "0" "70" "11" "5254279" "5254279" "subst" "2.03267E-5" "03464" "HBD_001694" "g.5254279C>T" "" "{DB:HbVar2758}, M. Gallivan (A-9986-2010)" "" "" "" "Germline" "" "rs200447178" "0" "" "" "g.5233049C>T" "" "VUS" "" "0000601011" "0" "70" "11" "5255289" "5255289" "subst" "0" "03464" "HBD_001722" "g.5255289T>A" "" "{DB:HbVar2777}, Gallivan (A-9986-2010)" "" "codon 82 (AAG->TAG) delta0" "" "Germline" "" "rs281864561" "0" "" "" "g.5234059T>A" "" "VUS" "" "0000601012" "0" "70" "11" "5255645" "5255645" "subst" "0" "03464" "HBD_001723" "g.5255645C>G" "" "{DB:HbVar2781}, {PMID:Phylipsen M:20854118}" "" "" "" "Germline" "" "rs281864565" "0" "" "" "g.5234415C>G" "" "VUS" "" "0000601013" "0" "70" "11" "5255575" "5255575" "subst" "0" "03464" "HBD_001755" "g.5255575C>T" "" "{DB:HbVar2833}, {PMID:So CC:21417575}" "" "" "" "Germline" "" "" "0" "" "" "g.5234345C>T" "" "VUS" "" "0000601014" "0" "70" "11" "5255596" "5255597" "delins" "0" "03464" "HBD_001769" "g.5255596_5255597delinsTT" "" "{DB:HbVar2848}" "" "[67G>A;68C>A]" "" "Germline" "" "" "0" "" "" "g.5234366_5234367delinsTT" "" "VUS" "" "0000601015" "0" "70" "11" "5255620" "5255620" "subst" "0" "03464" "HBD_001770" "g.5255620A>G" "" "{DB:HbVar2849}" "" "" "" "Germline" "" "" "0" "" "" "g.5234390A>G" "" "VUS" "" "0000601016" "0" "70" "11" "5241854" "5254463" "del" "0" "03464" "HBD_001828" "g.5241854_5254463del" "" "{DB:HbVar1034}, {PMID:Ghedira ES:24006413}, {PMID:Chalaow N:24006412}, {PMID:Ghedira ES:22801970}, {PMID:Trent:2454901}" "" "NC_000011.9:g.5241853_5254462del" "" "Germline" "" "" "0" "" "" "g.5220624_5233233del" "" "pathogenic" "" "0000601017" "0" "70" "11" "5255385" "5255385" "subst" "2.43768E-5" "03464" "HBD_001829" "g.5255385A>T" "" "{DB:HbVar2914}" "" "" "" "Germline" "" "" "0" "" "" "g.5234155A>T" "" "VUS" "" "0000601018" "0" "70" "11" "5254324" "5254324" "subst" "1.62701E-5" "03464" "HBD_001834" "g.5254324T>C" "" "{DB:HbVar2919}" "" "IVS-II-897 A>G ; delta0" "" "Germline" "" "" "0" "" "" "g.5233094T>C" "" "VUS" "" "0000601019" "0" "70" "11" "5255265" "5255265" "subst" "0" "03464" "HBD_001836" "g.5255265C>T" "" "{DB:HbVar2922}" "" "" "" "Germline" "" "" "0" "" "" "g.5234035C>T" "" "VUS" "" "0000601020" "0" "70" "11" "5255297" "5255297" "subst" "0" "03464" "HBD_001837" "g.5255297T>C" "" "{DB:HbVar2923}" "" "" "" "Germline" "" "" "0" "" "" "g.5234067T>C" "" "VUS" "" "0000601021" "0" "70" "11" "5255396" "5255396" "subst" "0" "03464" "HBD_001843" "g.5255396C>T" "" "{DB:HbVar2897}, {PMID:Moumni I:24471655}" "" "" "" "Germline" "" "" "0" "" "" "g.5234166C>T" "" "VUS" "" "0000601022" "0" "70" "11" "5255626" "5255626" "subst" "0" "03464" "HBD_001929" "g.5255626T>G" "" "{DB:HbVar3026}, {PMID:van Zwieten R:24200101}" "" "" "" "Germline" "" "" "0" "" "" "g.5234396T>G" "" "VUS" "" "0000601023" "0" "70" "11" "5255343" "5255343" "subst" "0" "03464" "HBD_001930" "g.5255343C>T" "" "{DB:HbVar3027}, {PMID:van Zwieten R:24200101}" "" "" "" "Germline" "" "" "0" "" "" "g.5234113C>T" "" "VUS" "" "0000601024" "0" "70" "11" "5255362" "5255362" "dup" "0" "03464" "HBD_001931" "g.5255362dup" "" "{DB:HbVar3034}" "" "codon 58 (+C) delta0, 176_177insC" "" "Germline" "" "" "0" "" "" "g.5234132dup" "" "VUS" "" "0000601025" "0" "70" "11" "5255222" "5255222" "subst" "8.12532E-6" "03464" "HBD_001952" "g.5255222C>T" "" "{DB:HbVar3037}" "" "" "" "Germline" "" "" "0" "" "" "g.5233992C>T" "" "VUS" "" "0000601026" "0" "70" "11" "5255235" "5255235" "subst" "9.74976E-5" "03464" "HBD_001953" "g.5255235G>A" "" "{DB:HbVar3038}, {PMID:Colaco S:24200152}" "" "" "" "Germline" "" "" "0" "" "" "g.5234005G>A" "" "VUS" "" "0000601027" "0" "70" "11" "5254288" "5254288" "subst" "0" "03464" "HBD_001964" "g.5254288C>G" "" "HbVar ?" "" "" "" "Germline" "" "" "0" "" "" "g.5233058C>G" "" "VUS" "" "0000601028" "0" "70" "11" "5254274" "5254274" "subst" "0" "03464" "HBD_001968" "g.5254274C>T" "" "HbVar ?, {PMID:Yan JM:27117573}" "" "" "" "Germline" "" "" "0" "" "" "g.5233044C>T" "" "VUS" "" "0000601029" "0" "70" "11" "5255394" "5255394" "subst" "0" "03464" "HBD_001971" "g.5255394C>T" "" "HbVar ?, {PMID:Panyasai S:25218786}" "" "" "" "Germline" "" "" "0" "" "" "g.5234164C>T" "" "VUS" "" "0000601030" "0" "70" "11" "5255303" "5255303" "subst" "0" "03464" "HBD_001972" "g.5255303T>C" "" "HbVar ?, {PMID:Nuinoon M:28795619}" "" "" "" "Germline" "" "" "0" "" "" "g.5234073T>C" "" "VUS" "" "0000601031" "0" "70" "11" "5248267" "5255687" "dup" "0" "03464" "HBD_001973" "g.5248267_5255687dup" "" "{DB:HbVar3119}, {PMID:So CC:17222202}" "" "NG_000007.3:g.63160_70572dup" "" "Germline" "" "" "0" "" "" "g.5227037_5234457dup" "" "VUS" "" "0000601032" "0" "70" "11" "5255376" "5255376" "subst" "0" "03464" "HBD_001986" "g.5255376C>G" "" "HbVar ?" "" "" "" "Germline" "" "" "0" "" "" "g.5234146C>G" "" "VUS" "" "0000601033" "0" "70" "11" "5254288" "5254288" "subst" "0" "03464" "HBD_001987" "g.5254288C>A" "" "HbVar ?, {PMID:Waye JS:14587045}" "" "" "" "Germline" "" "" "0" "" "" "g.5233058C>A" "" "VUS" "" "0000601034" "0" "70" "11" "5248143" "5255555" "" "0" "03464" "HBD_002006" "g.[5248143_5255555del;5248783_5255655dup]" "" "{DB:HbVar3057}" "" "NG_000007.3:g.[63191_70603dup;63291_70703del]" "" "Germline" "" "" "0" "" "" "g.?" "" "VUS" "" "0000601035" "0" "70" "11" "5255653" "5255653" "subst" "0" "03464" "HBD_002011" "g.5255653A>G" "" "HbVar ?" "" "" "" "Germline" "" "" "0" "" "" "g.5234423A>G" "" "VUS" "" "0000601036" "0" "70" "11" "5255617" "5255617" "subst" "1.21954E-5" "03464" "HBD_002015" "g.5255617C>A" "" "HbVar ?" "" "" "" "Germline" "" "" "0" "" "" "g.5234387C>A" "" "VUS" "" "0000601037" "0" "70" "11" "5255261" "5255261" "subst" "4.0624E-6" "03464" "HBD_002029" "g.5255261A>G" "" "HbVar ?" "" "" "" "Germline" "" "" "0" "" "" "g.5234031A>G" "" "VUS" "" "0000601038" "0" "70" "11" "5255426" "5255426" "subst" "0" "03464" "HBD_002038" "g.5255426G>C" "" "HbVar ?" "" "" "" "Germline" "" "" "0" "" "" "g.5234196G>C" "" "VUS" "" "0000601039" "0" "70" "11" "5255327" "5255327" "subst" "0" "03464" "HBD_002048" "g.5255327C>T" "" "HbVar ?" "" "" "" "Germline" "" "" "0" "" "" "g.5234097C>T" "" "VUS" "" "0000626457" "0" "30" "11" "5255267" "5255267" "subst" "4.06263E-6" "01401" "HBD_002050" "g.5255267C>T" "" "" "" "CD 89 AGT>AAT [Ser>Asn]" "" "Germline" "" "" "0" "" "" "g.5234037C>T" "" "benign" "" "0000648310" "1" "90" "11" "5255582" "5255582" "subst" "0.00215349" "03575" "HBD_001392" "g.5255582C>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs35152987}" "Germline" "" "rs35152987" "0" "" "" "g.5234352C>A" "" "pathogenic" "" "0000902084" "0" "10" "11" "5254210" "5254210" "subst" "8.12836E-6" "03779" "HBD_002051" "g.5254210G>T" "" "" "" "" "" "Unknown" "" "rs35848600" "0" "" "" "" "" "benign" "" "0000953664" "0" "90" "11" "5247800" "5255214" "del" "0" "00006" "HBB_001455" "g.5247800_5255214del" "" "{PMID:Xu 2023:38037185}" "" "NG_000007.3:g.63632-71046del HBB:-6963_315+7del" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5226570_5233984del" "" "pathogenic" "" "0000953666" "0" "90" "11" "5247800" "5255214" "dup" "0" "00006" "HBB_004183" "g.5247800_5255214dup" "" "{PMID:Xu 2023:38037185}" "" "NG_000007.3:g.63632-71046dup HBB:-6963_315+7dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5226570_5233984dup" "" "pathogenic" "" "0000953667" "0" "90" "11" "5247800" "5255214" "dup" "0" "00006" "HBB_004183" "g.5247800_5255214dup" "" "{PMID:Xu 2023:38037185}" "" "NG_000007.3:g.63632-71046dup HBB:-6963_315+7dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5226570_5233984dup" "" "pathogenic" "" "0000953668" "0" "90" "11" "5247800" "5255214" "dup" "0" "00006" "HBB_004183" "g.5247800_5255214dup" "" "{PMID:Xu 2023:38037185}" "" "NG_000007.3:g.63632-71046dup HBB:-6963_315+7dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5226570_5233984dup" "" "pathogenic" "" "0000953669" "0" "90" "11" "5247800" "5255214" "dup" "0" "00006" "HBB_004183" "g.5247800_5255214dup" "" "{PMID:Xu 2023:38037185}" "" "NG_000007.3:g.63632-71046dup HBB:-6963_315+7dup" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.5226570_5233984dup" "" "pathogenic" "" "0001038512" "0" "90" "11" "5255582" "5255582" "subst" "0.00215349" "01804" "HBD_001392" "g.5255582C>A" "" "" "" "HBD(NM_000519.4):c.82G>T (p.(Ala28Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 HBD ## Count = 112 "{{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}}" "0000115837" "00009173" "90" "-5943" "0" "316" "-77" "c.-5943_316-77del" "r.0?" "p.0?" "_1_2i" "Corfu delta/beta del" "0000115839" "00009173" "90" "-5943" "0" "316" "-77" "c.-5943_316-77del" "r.0?" "p.0?" "_1_2i" "Corfu delta/beta" "0000170995" "00009173" "90" "265" "0" "6780" "0" "c.265_*6336del" "r.?" "p.?" "2_3_" "Hb Lepore" "0000600940" "00009173" "70" "5" "0" "5" "0" "c.5T>C" "r.(?)" "p.(Val2Ala)" "1" "Hb A2-Niigata" "0000600941" "00009173" "70" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(His3Arg)" "1" "Hb A2-Sphakia" "0000600942" "00009173" "70" "35" "0" "35" "0" "c.35T>G" "r.(?)" "p.(Val12Gly)" "1" "Hb A2-Pylos" "0000600943" "00009173" "70" "39" "0" "39" "0" "c.39T>A" "r.(?)" "p.(Asn13Lys)" "1" "Hb A2-NYU" "0000600944" "00009173" "70" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" "1" "" "0000600945" "00009173" "70" "62" "0" "62" "0" "c.62T>A" "r.(?)" "p.(Val21Glu)" "1" "Hb A2-Roosevelt" "0000600946" "00009173" "70" "68" "0" "68" "0" "c.68C>A" "r.(?)" "p.(Ala23Glu)" "1" "Hb A2-Flatbush" "0000600947" "00009173" "70" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Gly25Asp)" "1" "Hb A2-Victoria" "0000600948" "00009173" "70" "77" "0" "77" "0" "c.77G>A" "r.(?)" "p.(Gly26Asp)" "1" "Hb A2-Yokoshima" "0000600949" "00009173" "70" "81" "0" "81" "0" "c.81G>C" "r.(?)" "p.(Glu27Asp)" "1" "Hb A2-Puglia" "0000600950" "00009173" "70" "82" "0" "82" "0" "c.82G>T" "r.(?)" "p.(Ala28Ser)" "1" "Hb A2-Yialousa" "0000600951" "00009173" "70" "110" "0" "110" "0" "c.110C>A" "r.(?)" "p.(Pro37His)" "2" "Hb A2-Metaponto" "0000600952" "00009173" "70" "130" "0" "130" "0" "c.130G>A" "r.(?)" "p.(Glu44Lys)" "2" "Hb A2-Melbourne" "0000600953" "00009173" "70" "131" "0" "131" "0" "c.131A>G" "r.(?)" "p.(Glu44Gly)" "2" "Hb A2-Agrinio" "0000600954" "00009173" "70" "143" "0" "143" "0" "c.143A>T" "r.(?)" "p.(Asp48Val)" "2" "Hb A2-Parkville" "0000600955" "00009173" "70" "155" "0" "155" "0" "c.155C>G" "r.(?)" "p.(Pro52Arg)" "2" "Hb A2-Adria" "0000600956" "00009173" "70" "208" "0" "208" "0" "c.208G>C" "r.(?)" "p.(Gly70Arg)" "2" "Hb A2-Indonesia" "0000600957" "00009173" "70" "226" "0" "226" "0" "c.226C>G" "r.(?)" "p.(Leu76Val)" "2" "Hb A2-Grovetown" "0000600958" "00009173" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Asp)" "2" "Hb A2-Nishishinbashi" "0000600959" "00009173" "70" "257" "0" "257" "0" "c.257T>C" "r.(?)" "p.(Phe86Ser)" "2" "Hb A2-Etolia" "0000600960" "00009173" "70" "272" "0" "272" "0" "c.272A>T" "r.(?)" "p.(Glu91Val)" "2" "Hb A2-Honai" "0000600961" "00009173" "70" "280" "0" "280" "0" "c.280T>G" "r.(?)" "p.(Cys94Gly)" "2" "Hb A2-Sant\' Antioco" "0000600962" "00009173" "70" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Val99Met)" "2" "Hb A2-Wrens" "0000600963" "00009173" "70" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Asp100Asn)" "2" "Hb A2-Canada" "0000600964" "00009173" "70" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117His)" "3" "Hb A2-Coburg" "0000600965" "00009173" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Cys)" "3" "Hb A2-Troodos" "0000600966" "00009173" "70" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Asn118Asp)" "3" "Hb A2-Liangcheng" "0000600967" "00009173" "70" "-127" "0" "-127" "0" "c.-127T>C" "r.(?)" "p.(=)" "1" "" "0000600968" "00009173" "70" "-115" "0" "-115" "0" "c.-115A>G" "r.(?)" "p.(=)" "1" "" "0000600969" "00009173" "70" "-105" "0" "-105" "0" "c.-105T>C" "r.(?)" "p.(=)" "1" "" "0000600970" "00009173" "70" "-86" "0" "-86" "0" "c.-86C>A" "r.(?)" "p.(=)" "1" "" "0000600971" "00009173" "70" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Ile)" "1" "" "0000600972" "00009173" "70" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Arg31Thr)" "1" "" "0000600973" "00009173" "70" "92" "2" "92" "2" "c.92+2T>C" "r.spl" "p.?" "1" "" "0000600974" "00009173" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Trp38*)" "2" "" "0000600975" "00009173" "70" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Lys60Argfs*2)" "2" "" "0000600976" "00009173" "70" "270" "0" "270" "0" "c.270dup" "r.(?)" "p.(Glu91*)" "2" "" "0000600977" "00009173" "70" "316" "-2" "316" "-2" "c.316-2A>C" "r.spl" "p.?" "3" "" "0000600978" "00009173" "70" "349" "0" "349" "0" "c.349C>T" "r.(?)" "p.(Arg117Cys)" "3" "" "0000600979" "00009173" "70" "643" "0" "643" "0" "c.*199G>A" "r.(?)" "p.(=)" "3" "" "0000600980" "00009173" "70" "0" "0" "0" "0" "c.-195_316-82[0]" "r.0" "p.0" "_1_2i" "delta0 Corfu" "0000600981" "00009173" "70" "25" "0" "25" "0" "c.25A>G" "r.(?)" "p.(Lys9Glu)" "1" "Hb A2-Toranomon" "0000600982" "00009173" "70" "174" "0" "174" "0" "c.174C>A" "r.(?)" "p.(Asn58Lys)" "2" "Hb A2-Campania" "0000600983" "00009173" "70" "265" "0" "265" "0" "c.265C>G" "r.(?)" "p.(Leu89Val)" "2" "Hb A2-Lucania" "0000600984" "00009173" "70" "315" "0" "315" "0" "c.315G>T" "r.(?)" "p.(Arg105Ser)" "2" "Hb A2-Capri" "0000600985" "00009173" "70" "-126" "0" "-126" "0" "c.-126A>T" "r.(?)" "p.(=)" "1" "" "0000600986" "00009173" "70" "315" "6" "315" "6" "c.315+6T>A" "r.spl?" "p.(=)" "2" "" "0000600987" "00009173" "70" "-81" "0" "-81" "0" "c.-81A>G" "r.(?)" "p.(=)" "1" "" "0000600988" "00009173" "70" "-80" "0" "-80" "0" "c.-80T>C" "r.(?)" "p.(=)" "1" "" "0000600989" "00009173" "70" "316" "-5" "316" "-5" "c.316-5C>T" "r.spl?" "p.?" "3" "" "0000600990" "00009173" "70" "93" "-1" "93" "-1" "c.93-1G>C" "r.spl" "p.?" "2" "" "0000600991" "00009173" "70" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Lys60Asn)" "2" "Hb A2-Pasteur-Tunis" "0000600992" "00009173" "70" "41" "0" "41" "0" "c.41C>A" "r.(?)" "p.(Ala14Asp)" "1" "Hb A2-MUMC" "0000600993" "00009173" "70" "8" "0" "8" "0" "c.8A>T" "r.(?)" "p.(His3Leu)" "1" "Hb A2-Catania" "0000600994" "00009173" "70" "212" "0" "212" "0" "c.212C>G" "r.(?)" "p.(Ala71Gly)" "2" "Hb A2-Ventimiglia" "0000600995" "00009173" "70" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(Gln88Lys)" "2" "Hb A2-Montechiaro" "0000600996" "00009173" "70" "23" "0" "23" "0" "c.23A>C" "r.(?)" "p.(Glu8Ala)" "1" "Hb A2-Udine" "0000600997" "00009173" "70" "14" "0" "14" "0" "c.14C>G" "r.(?)" "p.(Thr5Ser)" "1" "Hb A2-Acacias" "0000600998" "00009173" "70" "179" "0" "179" "0" "c.179A>T" "r.(?)" "p.(Lys60Met)" "2" "Hb A2-North Africa" "0000600999" "00009173" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "_1_3_" "Hb Parchman" "0000601000" "00009173" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "_1_3_" "Hb Miyada" "0000601001" "00009173" "70" "315" "1" "315" "1" "c.315+1G>A" "r.spl" "p.?" "2" "" "0000601002" "00009173" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.0?" "1" "" "0000601003" "00009173" "70" "120" "0" "120" "0" "c.120G>C" "r.(?)" "p.(Gln40His)" "2" "Hb A2-Lyon" "0000601004" "00009173" "70" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Gly75Asp)" "2" "Hb A2-Asti" "0000601005" "00009173" "70" "24" "0" "24" "0" "c.24G>C" "r.(?)" "p.(Glu8Asp)" "1" "Hb A2-Pordenone" "0000601006" "00009173" "70" "7" "0" "7" "0" "c.7C>A" "r.(?)" "p.(His3Asn)" "1" "" "0000601007" "00009173" "70" "157" "0" "157" "0" "c.157G>C" "r.(?)" "p.(Asp53His)" "2" "" "0000601008" "00009173" "70" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Leu82Phe)" "2" "Hb A2 Saint-Denis" "0000601009" "00009173" "70" "272" "0" "272" "0" "c.272A>G" "r.(?)" "p.(Glu91Gly)" "2" "Hb A2-India" "0000601010" "00009173" "70" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Gly120Asp)" "3" "Hb A2-Lewisburg" "0000601011" "00009173" "70" "247" "0" "247" "0" "c.247A>T" "r.(?)" "p.(Lys83*)" "2" "" "0000601012" "00009173" "70" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Glu7Gln)" "1" "Hb A2-Ramallah" "0000601013" "00009173" "70" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Gly30Asp)" "1" "Hb A2 Hong Kong" "0000601014" "00009173" "70" "67" "0" "68" "0" "c.67_68delinsAA" "r.(?)" "p.(Ala23Lys)" "1" "Hb A2-Marseille" "0000601015" "00009173" "70" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Leu15Pro)" "1" "Hb A2-Saint-Etienne" "0000601016" "00009173" "70" "0" "0" "0" "0" "c.316-141_*135[0]" "r.0?" "p.0?" "2i" "" "0000601017" "00009173" "70" "151" "0" "151" "0" "c.151T>A" "r.(?)" "p.(Ser51Thr)" "2" "Hb Konz" "0000601018" "00009173" "70" "316" "-2" "316" "-2" "c.316-2A>G" "r.spl" "p.?" "3" "" "0000601019" "00009173" "70" "271" "0" "271" "0" "c.271G>A" "r.(?)" "p.(Glu91Lys)" "2" "Hb A2-Canebiere" "0000601020" "00009173" "70" "239" "0" "239" "0" "c.239A>G" "r.(?)" "p.(Asp80Gly)" "2" "Hb A2-Turkish" "0000601021" "00009173" "70" "140" "0" "140" "0" "c.140G>A" "r.(?)" "p.(Gly47Glu)" "2" "Hb A2-Tunis" "0000601022" "00009173" "70" "38" "0" "38" "0" "c.38A>C" "r.(?)" "p.(Asn13Thr)" "1" "Hb A2-Rotterdam" "0000601023" "00009173" "70" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Gly65Ser)" "2" "Hb A2-Venlo" "0000601024" "00009173" "70" "176" "0" "176" "0" "c.176dup" "r.(?)" "p.(Lys60*)" "2" "" "0000601025" "00009173" "70" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Lys)" "2" "Hb Chori-Burnaby" "0000601026" "00009173" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Pro101Ser)" "2" "Hb A2-Saurashtra" "0000601027" "00009173" "70" "350" "0" "350" "0" "c.350G>C" "r.(?)" "p.(Arg117Pro)" "3" "Hb A2 Bornova" "0000601028" "00009173" "70" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Glu122Lys)" "3" "Hb A2-Fengshun" "0000601029" "00009173" "70" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Asp48Asn)" "2" "Hb A2-Lampang" "0000601030" "00009173" "70" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(His78Arg)" "2" "Hb A2-Kiriwong" "0000601031" "00009173" "70" "0" "0" "0" "0" "c.-23_*135[2]" "r.?" "p?" "1_3_" "Hb anti-Lepore Hong Kong" "0000601032" "00009173" "70" "160" "0" "160" "0" "c.160G>C" "r.(?)" "p.(Ala54Pro)" "2" "Hb A2-Edirne" "0000601033" "00009173" "70" "350" "0" "350" "0" "c.350G>T" "r.(?)" "p.(Arg117Leu)" "3" "Hb A2 Lepore" "0000601034" "00009173" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_3_" "Hb Lepore Rochester-MN" "0000601035" "00009173" "70" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Leu4Pro)" "1" "Hb A2-Sile" "0000601036" "00009173" "70" "47" "0" "47" "0" "c.47G>T" "r.(?)" "p.(Trp16Leu)" "1" "Hb A2-Stockholm" "0000601037" "00009173" "70" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Pro)" "2" "Hb A2-Courbevoie" "0000601038" "00009173" "70" "110" "0" "110" "0" "c.110C>G" "r.(?)" "p.(Pro37Arg)" "2" "Hb A2-Sanremo" "0000601039" "00009173" "70" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Gly70Asp)" "2" "Hb A2-Gebenstorf" "0000626457" "00009173" "30" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Ser90Asn)" "2" "HbA2 Pistoia" "0000648310" "00009173" "90" "82" "0" "82" "0" "c.82G>T" "r.(?)" "p.(Ala28Ser)" "" "" "0000902084" "00009173" "10" "428" "0" "428" "0" "c.428C>A" "r.(?)" "p.(Ala143Asp)" "" "" "0000953664" "00009173" "90" "0" "0" "0" "0" "c.315+8_*135{0}" "NM_000519.3:r.-50_315::r.315_*135" "NP_000509.1:p.Met1_Arg105::Leu106_Ter148" "2i_3_" "Hb Lepore-Boston-Washington" "0000953666" "00009173" "90" "0" "0" "0" "0" "c.315+8_*135{2}" "r.[=;NM_000519.3:r.-50_315::r.315_*135]" "p.[=;NP_000509.1:p.Met1_Arg105::Leu106_Ter148]" "2i_3_" "anti-Lepore P-India" "0000953667" "00009173" "90" "0" "0" "0" "0" "c.315+8_*135{2}" "r.[=;NM_000519.3:r.-50_315::r.315_*135]" "p.[=;NP_000509.1:p.Met1_Arg105::Leu106_Ter148]" "2i_3_" "anti-Lepore P-India" "0000953668" "00009173" "90" "0" "0" "0" "0" "c.315+8_*135{2}" "r.[=;NM_000519.3:r.-50_315::r.315_*135]" "p.[=;NP_000509.1:p.Met1_Arg105::Leu106_Ter148]" "2i_3_" "anti-Lepore P-India" "0000953669" "00009173" "90" "0" "0" "0" "0" "c.315+8_*135{2}" "r.[=;NM_000519.3:r.-50_315::r.315_*135]" "p.[=;NP_000509.1:p.Met1_Arg105::Leu106_Ter148]" "2i_3_" "anti-Lepore P-India" "0001038512" "00009173" "90" "82" "0" "82" "0" "c.82G>T" "r.(?)" "p.(Ala28Ser)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 110 "{{screeningid}}" "{{variantid}}" "0000072299" "0000115837" "0000072300" "0000115839" "0000105545" "0000170995" "0000268263" "0000600940" "0000268264" "0000600941" "0000268265" "0000600942" "0000268266" "0000600943" "0000268267" "0000600944" "0000268268" "0000600945" "0000268269" "0000600946" "0000268270" "0000600947" "0000268271" "0000600948" "0000268272" "0000600949" "0000268273" "0000600950" "0000268274" "0000600951" "0000268275" "0000600952" "0000268276" "0000600953" "0000268277" "0000600954" "0000268278" "0000600955" "0000268279" "0000600956" "0000268280" "0000600957" "0000268281" "0000600958" "0000268282" "0000600959" "0000268283" "0000600960" "0000268284" "0000600961" "0000268285" "0000600962" "0000268286" "0000600963" "0000268287" "0000600964" "0000268288" "0000600965" "0000268289" "0000600966" "0000268290" "0000600967" "0000268291" "0000600968" "0000268292" "0000600969" "0000268293" "0000600970" "0000268294" "0000600971" "0000268295" "0000600972" "0000268296" "0000600973" "0000268297" "0000600974" "0000268298" "0000600975" "0000268299" "0000600976" "0000268300" "0000600977" "0000268301" "0000600978" "0000268302" "0000600979" "0000268303" "0000600980" "0000268304" "0000600981" "0000268305" "0000600982" "0000268306" "0000600983" "0000268307" "0000600984" "0000268308" "0000600985" "0000268309" "0000600986" "0000268310" "0000600987" "0000268311" "0000600988" "0000268312" "0000600989" "0000268313" "0000600990" "0000268314" "0000600991" "0000268315" "0000600992" "0000268316" "0000600993" "0000268317" "0000600994" "0000268318" "0000600995" "0000268319" "0000600996" "0000268320" "0000600997" "0000268321" "0000600998" "0000268322" "0000600999" "0000268323" "0000601000" "0000268324" "0000601001" "0000268325" "0000601002" "0000268326" "0000601003" "0000268327" "0000601004" "0000268328" "0000601005" "0000268329" "0000601006" "0000268330" "0000601007" "0000268331" "0000601008" "0000268332" "0000601009" "0000268333" "0000601010" "0000268334" "0000601011" "0000268335" "0000601012" "0000268336" "0000601013" "0000268337" "0000601014" "0000268338" "0000601015" "0000268339" "0000601016" "0000268340" "0000601017" "0000268341" "0000601018" "0000268342" "0000601019" "0000268343" "0000601020" "0000268344" "0000601021" "0000268345" "0000601022" "0000268346" "0000601023" "0000268347" "0000601024" "0000268348" "0000601025" "0000268349" "0000601026" "0000268350" "0000601027" "0000268351" "0000601028" "0000268352" "0000601029" "0000268353" "0000601030" "0000268354" "0000601031" "0000268355" "0000601032" "0000268356" "0000601033" "0000268357" "0000601034" "0000268358" "0000601035" "0000268359" "0000601036" "0000268360" "0000601037" "0000268361" "0000601038" "0000268362" "0000601039" "0000272484" "0000626457" "0000291621" "0000648310" "0000445577" "0000953664" "0000445579" "0000953666" "0000445580" "0000953667" "0000445581" "0000953668" "0000445582" "0000953669"