### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HOXB13) # 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}}" "HOXB13" "homeobox B13" "17" "q21.32" "unknown" "LRG_771" "UD_132464990018" "" "https://www.LOVD.nl/HOXB13" "" "1" "5112" "10481" "604607" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/HOXB13_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-08-13 08:45:33" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00009569" "HOXB13" "homeobox B13" "001" "NM_006361.5" "" "NP_006352.2" "" "" "" "-156" "2882" "855" "46806111" "46802125" "" "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" "01524" "cancer, prostate" "cancer, prostate" "AD;SMu" "176807" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05649" "HPC9" "cancer, prostate, hereditary, type 9 (HPC-9)" "" "610997" "" "" "" "00006" "2019-08-13 08:44:14" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "HOXB13" "05649" ## Individuals ## Do not remove or alter this header ## ## Count = 45 "{{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}}" "00261305" "" "" "" "29" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12365 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261306" "" "" "" "3" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12363 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261307" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12365 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261308" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12365 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261309" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12365 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261310" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12364 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261311" "" "" "" "2" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12364 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261312" "" "" "" "166" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12364 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261313" "" "" "" "5" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12364 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261314" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261315" "" "" "" "2" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261316" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261317" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261318" "" "" "" "3400" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12362 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261319" "" "" "" "334" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12362 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261320" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261321" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261322" "" "" "" "113" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261323" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261324" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261325" "" "" "" "15" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261326" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261327" "" "" "" "959" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12365 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261328" "" "" "" "28" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12365 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261329" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261330" "" "" "" "7" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261331" "" "" "" "7" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261332" "" "" "" "2" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261333" "" "" "" "2" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261334" "" "" "" "2" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261335" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261336" "" "" "" "2" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261337" "" "" "" "9" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261338" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261339" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261340" "" "" "" "2" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261341" "" "" "" "263" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12366 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261342" "" "" "" "8" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12365 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261343" "" "" "" "5" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12364 controls" "" "" "Japan" "" "0" "" "" "" "control" "00261344" "" "" "" "1" "" "01714" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "analysis 12364 controls" "" "" "Japan" "" "0" "" "" "" "control" "00265414" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00295663" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00410600" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "secondary finding analysis 329 adult patients suffering from undiagnosed rare disease" "" "" "Belgium" "" "0" "" "" "" "" "00410602" "" "" "" "1" "" "00006" "{PMID:Schuermans 2022:35606766}" "secondary finding analysis 329 adult patients suffering from undiagnosed rare disease" "" "" "Belgium" "" "0" "" "" "" "" "00464504" "" "" "" "1" "" "04818" "" "" "M" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00261305" "00000" "00261306" "00000" "00261307" "00000" "00261308" "00000" "00261309" "00000" "00261310" "00000" "00261311" "00000" "00261312" "00000" "00261313" "00000" "00261314" "00000" "00261315" "00000" "00261316" "00000" "00261317" "00000" "00261318" "00000" "00261319" "00000" "00261320" "00000" "00261321" "00000" "00261322" "00000" "00261323" "00000" "00261324" "00000" "00261325" "00000" "00261326" "00000" "00261327" "00000" "00261328" "00000" "00261329" "00000" "00261330" "00000" "00261331" "00000" "00261332" "00000" "00261333" "00000" "00261334" "00000" "00261335" "00000" "00261336" "00000" "00261337" "00000" "00261338" "00000" "00261339" "00000" "00261340" "00000" "00261341" "00000" "00261342" "00000" "00261343" "00000" "00261344" "00000" "00295663" "00198" "00410600" "00198" "00410602" "00198" "00464504" "01524" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01524, 05649 ## Count = 1 "{{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}}" "0000223227" "00198" "00295663" "01164" "Unknown" "" "Intestinal polyposis (HP:0200008)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 45 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000262410" "00261305" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262411" "00261306" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262412" "00261307" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262413" "00261308" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262414" "00261309" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262415" "00261310" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262416" "00261311" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262417" "00261312" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262418" "00261313" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262419" "00261314" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262420" "00261315" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262421" "00261316" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262422" "00261317" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262423" "00261318" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262424" "00261319" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262425" "00261320" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262426" "00261321" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262427" "00261322" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262428" "00261323" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262429" "00261324" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262430" "00261325" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262431" "00261326" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262432" "00261327" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262433" "00261328" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262434" "00261329" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262435" "00261330" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262436" "00261331" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262437" "00261332" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262438" "00261333" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262439" "00261334" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262440" "00261335" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262441" "00261336" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262442" "00261337" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262443" "00261338" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262444" "00261339" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262445" "00261340" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262446" "00261341" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262447" "00261342" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262448" "00261343" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000262449" "00261344" "1" "01714" "00006" "2019-08-12 21:59:47" "" "" "SEQ" "DNA" "" "" "0000266540" "00265414" "1" "01164" "01164" "2019-09-25 09:36:56" "" "" "SEQ-NG-S" "DNA" "" "" "0000296835" "00295663" "1" "01164" "01164" "2020-03-22 12:43:59" "" "" "SEQ-NG-S" "DNA" "" "" "0000411865" "00410600" "1" "00006" "00006" "2022-05-29 12:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411867" "00410602" "1" "00006" "00006" "2022-05-29 12:28:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000466142" "00464504" "1" "04818" "04818" "2025-03-19 11:19:24" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000262410" "HOXB13" "0000262411" "HOXB13" "0000262412" "HOXB13" "0000262413" "HOXB13" "0000262414" "HOXB13" "0000262415" "HOXB13" "0000262416" "HOXB13" "0000262417" "HOXB13" "0000262418" "HOXB13" "0000262419" "HOXB13" "0000262420" "HOXB13" "0000262421" "HOXB13" "0000262422" "HOXB13" "0000262423" "HOXB13" "0000262424" "HOXB13" "0000262425" "HOXB13" "0000262426" "HOXB13" "0000262427" "HOXB13" "0000262428" "HOXB13" "0000262429" "HOXB13" "0000262430" "HOXB13" "0000262431" "HOXB13" "0000262432" "HOXB13" "0000262433" "HOXB13" "0000262434" "HOXB13" "0000262435" "HOXB13" "0000262436" "HOXB13" "0000262437" "HOXB13" "0000262438" "HOXB13" "0000262439" "HOXB13" "0000262440" "HOXB13" "0000262441" "HOXB13" "0000262442" "HOXB13" "0000262443" "HOXB13" "0000262444" "HOXB13" "0000262445" "HOXB13" "0000262446" "HOXB13" "0000262447" "HOXB13" "0000262448" "HOXB13" "0000262449" "HOXB13" "0000466142" "HOXB13" ## 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 = 59 "{{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}}" "0000281401" "0" "50" "17" "46805768" "46805768" "subst" "5.72644E-5" "02325" "HOXB13_000003" "g.46805768C>T" "" "" "" "HOXB13(NM_006361.5):c.188G>A (p.(Cys63Tyr)), HOXB13(NM_006361.6):c.188G>A (p.C63Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48728406C>T" "" "VUS" "" "0000281402" "0" "90" "17" "46805705" "46805705" "subst" "0.00189898" "02325" "HOXB13_000002" "g.46805705C>T" "" "" "" "HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48728343C>T" "" "pathogenic" "" "0000283425" "0" "90" "17" "46805705" "46805705" "subst" "0.00189898" "02329" "HOXB13_000002" "g.46805705C>T" "" "" "" "HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48728343C>T" "" "pathogenic" "" "0000283426" "0" "10" "17" "46805626" "46805626" "subst" "0.0023729" "02329" "HOXB13_000001" "g.46805626G>T" "" "" "" "HOXB13(NM_006361.6):c.330C>A (p.P110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48728264G>T" "" "benign" "" "0000562110" "0" "70" "17" "46805705" "46805705" "subst" "0.00189898" "01804" "HOXB13_000002" "g.46805705C>T" "" "" "" "HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48728343C>T" "" "likely pathogenic" "" "0000592703" "1" "50" "17" "46804175" "46804175" "subst" "0.000259905" "01714" "HOXB13_000005" "g.46804175C>A" "29/12365 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs200997384" "0" "" "" "g.48726813C>A" "" "VUS" "" "0000592704" "1" "50" "17" "46804181" "46804181" "subst" "4.06091E-6" "01714" "HOXB13_000006" "g.46804181C>T" "3/12363 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs191886930" "0" "" "" "g.48726819C>T" "" "VUS" "" "0000592705" "1" "50" "17" "46804209" "46804209" "subst" "0" "01714" "HOXB13_000007" "g.46804209G>A" "1/12365 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48726847G>A" "" "VUS" "" "0000592706" "1" "90" "17" "46804221" "46804221" "subst" "0" "01714" "HOXB13_000008" "g.46804221G>C" "1/12365 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48726859G>C" "" "pathogenic" "" "0000592707" "1" "50" "17" "46804246" "46804249" "dup" "0" "01714" "HOXB13_000004" "g.46804246_46804249dup" "1/12365 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "g.46804243_46804244insGGCT" "" "Germline" "" "" "0" "" "" "g.48726884_48726887dup" "" "VUS" "" "0000592708" "1" "50" "17" "46804329" "46804329" "subst" "0" "01714" "HOXB13_000009" "g.46804329C>T" "1/12364 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs200362093" "0" "" "" "g.48726967C>T" "" "VUS" "" "0000592709" "1" "50" "17" "46804372" "46804372" "subst" "0" "01714" "HOXB13_000010" "g.46804372G>A" "2/12364 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48727010G>A" "" "VUS" "" "0000592710" "1" "10" "17" "46804373" "46804373" "subst" "7.81822E-5" "01714" "HOXB13_000011" "g.46804373C>T" "166/12364 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs145059285" "0" "" "" "g.48727011C>T" "" "benign" "" "0000592711" "3" "10" "17" "46804373" "46804373" "subst" "7.81822E-5" "01714" "HOXB13_000011" "g.46804373C>T" "5/12364 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs145059285" "0" "" "" "g.48727011C>T" "" "benign" "" "0000592712" "1" "50" "17" "46805366" "46805366" "subst" "0" "01714" "HOXB13_000012" "g.46805366G>A" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728004G>A" "" "VUS" "" "0000592713" "1" "50" "17" "46805371" "46805371" "subst" "0" "01714" "HOXB13_000013" "g.46805371C>T" "2/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs867793282" "0" "" "" "g.48728009C>T" "" "VUS" "" "0000592714" "1" "50" "17" "46805378" "46805378" "subst" "0" "01714" "HOXB13_000014" "g.46805378G>A" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728016G>A" "" "VUS" "" "0000592715" "1" "50" "17" "46805401" "46805401" "subst" "0" "01714" "HOXB13_000015" "g.46805401C>T" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728039C>T" "" "VUS" "" "0000592716" "1" "10" "17" "46805443" "46805443" "subst" "0.116228" "01714" "HOXB13_000016" "g.46805443A>G" "3400/12362 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs9900627" "0" "" "" "g.48728081A>G" "" "benign" "" "0000592717" "3" "10" "17" "46805443" "46805443" "subst" "0.116228" "01714" "HOXB13_000016" "g.46805443A>G" "334/12362 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs9900627" "0" "" "" "g.48728081A>G" "" "benign" "" "0000592718" "1" "50" "17" "46805447" "46805447" "subst" "4.06072E-6" "01714" "HOXB13_000017" "g.46805447T>C" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728085T>C" "" "VUS" "" "0000592719" "1" "50" "17" "46805466" "46805466" "subst" "0" "01714" "HOXB13_000018" "g.46805466A>G" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs555788633" "0" "" "" "g.48728104A>G" "" "VUS" "" "0000592720" "1" "10" "17" "46805467" "46805467" "subst" "8.1213E-6" "01714" "HOXB13_000019" "g.46805467C>G" "113/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs199561305" "0" "" "" "g.48728105C>G" "" "benign" "" "0000592721" "1" "50" "17" "46805491" "46805491" "subst" "0" "01714" "HOXB13_000020" "g.46805491A>C" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728129A>C" "" "VUS" "" "0000592722" "1" "50" "17" "46805526" "46805526" "subst" "0" "01714" "HOXB13_000021" "g.46805526G>T" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728164G>T" "" "VUS" "" "0000592723" "1" "90" "17" "46805561" "46805561" "subst" "4.06081E-6" "01714" "HOXB13_000022" "g.46805561C>T" "15/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728199C>T" "" "pathogenic" "" "0000592724" "1" "50" "17" "46805576" "46805576" "subst" "0" "01714" "HOXB13_000023" "g.46805576A>C" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728214A>C" "" "VUS" "" "0000592725" "1" "10" "17" "46805590" "46805590" "subst" "0.144904" "01714" "HOXB13_000024" "g.46805590G>A" "959/12365 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs8556" "0" "" "" "g.48728228G>A" "" "benign" "" "0000592726" "3" "10" "17" "46805590" "46805590" "subst" "0.144904" "01714" "HOXB13_000024" "g.46805590G>A" "28/12365 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs8556" "0" "" "" "g.48728228G>A" "" "benign" "" "0000592727" "1" "50" "17" "46805591" "46805591" "subst" "0" "01714" "HOXB13_000025" "g.46805591C>T" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728229C>T" "" "VUS" "" "0000592728" "1" "50" "17" "46805605" "46805605" "subst" "0" "01714" "HOXB13_000026" "g.46805605C>T" "7/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728243C>T" "" "VUS" "" "0000592729" "1" "50" "17" "46805606" "46805606" "subst" "1.62488E-5" "01714" "HOXB13_000027" "g.46805606C>T" "7/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs760111060" "0" "" "" "g.48728244C>T" "" "VUS" "" "0000592730" "1" "50" "17" "46805616" "46805616" "subst" "1.21877E-5" "01714" "HOXB13_000028" "g.46805616G>T" "2/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs751698154" "0" "" "" "g.48728254G>T" "" "VUS" "" "0000592731" "1" "50" "17" "46805623" "46805623" "subst" "4.06359E-6" "01714" "HOXB13_000029" "g.46805623C>T" "2/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs757423683" "0" "" "" "g.48728261C>T" "" "VUS" "" "0000592732" "1" "50" "17" "46805695" "46805695" "subst" "4.0862E-6" "01714" "HOXB13_000030" "g.46805695G>A" "2/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728333G>A" "" "VUS" "" "0000592733" "1" "50" "17" "46805711" "46805711" "subst" "0" "01714" "HOXB13_000031" "g.46805711T>G" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728349T>G" "" "VUS" "" "0000592734" "1" "50" "17" "46805724" "46805724" "subst" "1.2247E-5" "01714" "HOXB13_000032" "g.46805724C>T" "2/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728362C>T" "" "VUS" "" "0000592735" "1" "50" "17" "46805738" "46805738" "subst" "8.1634E-6" "01714" "HOXB13_000033" "g.46805738G>A" "9/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs763353615" "0" "" "" "g.48728376G>A" "" "VUS" "" "0000592736" "1" "50" "17" "46805755" "46805755" "subst" "0" "01714" "HOXB13_000034" "g.46805755A>T" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728393A>T" "" "VUS" "" "0000592737" "1" "50" "17" "46805758" "46805758" "subst" "0" "01714" "HOXB13_000035" "g.46805758G>A" "1/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728396G>A" "" "VUS" "" "0000592738" "1" "50" "17" "46805806" "46805806" "subst" "8.19095E-6" "01714" "HOXB13_000036" "g.46805806G>C" "2/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728444G>C" "" "VUS" "" "0000592739" "1" "10" "17" "46805834" "46805834" "subst" "0.0001106" "01714" "HOXB13_000037" "g.46805834G>A" "263/12366 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "rs199799743" "0" "" "" "g.48728472G>A" "" "benign" "" "0000592740" "1" "50" "17" "46805842" "46805842" "subst" "0" "01714" "HOXB13_000038" "g.46805842C>T" "8/12365 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728480C>T" "" "VUS" "" "0000592741" "1" "90" "17" "46805906" "46805906" "subst" "8.18612E-6" "01714" "HOXB13_000039" "g.46805906C>A" "5/12364 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728544C>A" "" "pathogenic" "" "0000592742" "1" "50" "17" "46805940" "46805940" "subst" "0" "01714" "HOXB13_000040" "g.46805940A>T" "1/12364 controls" "{PMID:Momozawa 2019:31214711}, {DOI:Momozawa 2019:10.1093/jnci/djz124}" "" "" "" "Germline" "" "" "0" "" "" "g.48728578A>T" "" "VUS" "" "0000597238" "0" "70" "17" "46805705" "46805705" "subst" "0.00189898" "01164" "HOXB13_000002" "g.46805705C>T" "" "" "" "" "" "Germline" "" "rs138213197" "0" "" "" "g.48728343C>T" "" "likely pathogenic" "ACMG" "0000616654" "0" "70" "17" "46805705" "46805705" "subst" "0.00189898" "01943" "HOXB13_000002" "g.46805705C>T" "" "" "" "HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48728343C>T" "" "likely pathogenic" "" "0000653555" "0" "70" "17" "46805705" "46805705" "subst" "0.00189898" "01164" "HOXB13_000002" "g.46805705C>T" "" "" "" "" "PMID: 23064873, 22841674, 26517352, 23518396, 2402687" "Germline" "" "rs138213197" "0" "" "" "g.48728343C>T" "" "likely pathogenic" "ACMG" "0000680910" "0" "10" "17" "46805590" "46805590" "subst" "0.144904" "02327" "HOXB13_000024" "g.46805590G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726479" "0" "50" "17" "46804322" "46804322" "subst" "0" "01804" "HOXB13_000041" "g.46804322G>A" "" "" "" "HOXB13(NM_006361.5):c.685C>T (p.R229W, p.(Arg229Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808061" "0" "30" "17" "46804414" "46804414" "subst" "0.000260842" "01943" "HOXB13_000042" "g.46804414C>T" "" "" "" "HOXB13(NM_006361.5):c.602-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854976" "0" "50" "17" "46804155" "46804155" "del" "0" "01943" "HOXB13_000043" "g.46804155del" "" "" "" "HOXB13(NM_006361.5):c.853delT (p.*285Kfs*97)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854977" "0" "50" "17" "46804322" "46804322" "subst" "0" "01943" "HOXB13_000041" "g.46804322G>A" "" "" "" "HOXB13(NM_006361.5):c.685C>T (p.R229W, p.(Arg229Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865337" "0" "50" "17" "46805768" "46805768" "subst" "5.72644E-5" "01804" "HOXB13_000003" "g.46805768C>T" "" "" "" "HOXB13(NM_006361.5):c.188G>A (p.(Cys63Tyr)), HOXB13(NM_006361.6):c.188G>A (p.C63Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000869114" "0" "90" "17" "46805705" "46805705" "subst" "0.00189898" "00006" "HOXB13_000002" "g.46805705C>T" "" "{PMID:Schuermans 2022:35606766}" "" "p.Gly84Glu" "secondary finding" "Germline/De novo (untested)" "" "" "0" "" "" "g.48728343C>T" "" "pathogenic" "" "0000869116" "0" "90" "17" "46805705" "46805705" "subst" "0.00189898" "00006" "HOXB13_000002" "g.46805705C>T" "" "{PMID:Schuermans 2022:35606766}" "" "p.Gly84Glu" "secondary finding" "Germline/De novo (untested)" "" "" "0" "" "" "g.48728343C>T" "" "pathogenic" "" "0000893994" "0" "50" "17" "46805637" "46805637" "subst" "5.68893E-5" "02329" "HOXB13_000044" "g.46805637C>G" "" "" "" "HOXB13(NM_006361.6):c.319G>C (p.A107P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930804" "0" "50" "17" "46804358" "46804358" "subst" "0.000143286" "02327" "HOXB13_000045" "g.46804358G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029979" "0" "50" "17" "46805367" "46805367" "subst" "4.07714E-6" "04818" "HOXB13_000046" "g.46805367C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.48728005C>T" "" "VUS" "ACMG" ## 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 HOXB13 ## Count = 59 "{{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}}" "0000281401" "00009569" "50" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Cys63Tyr)" "" "0000281402" "00009569" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000283425" "00009569" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000283426" "00009569" "10" "330" "0" "330" "0" "c.330C>A" "r.(?)" "p.(Pro110=)" "" "0000562110" "00009569" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000592703" "00009569" "50" "832" "0" "832" "0" "c.832G>T" "r.(?)" "p.(Val278Leu)" "" "0000592704" "00009569" "50" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Ala276Thr)" "" "0000592705" "00009569" "50" "798" "0" "798" "0" "c.798C>T" "r.(=)" "p.(=)" "" "0000592706" "00009569" "90" "786" "0" "786" "0" "c.786C>G" "r.(?)" "p.(Ile262Met)" "" "0000592707" "00009569" "50" "760" "0" "763" "0" "c.760_763dup" "r.(?)" "p.(Leu255Glnfs*68)" "" "0000592708" "00009569" "50" "678" "0" "678" "0" "c.678G>A" "r.(=)" "p.(=)" "" "0000592709" "00009569" "50" "635" "0" "635" "0" "c.635C>T" "r.(?)" "p.(Ala212Val)" "" "0000592710" "00009569" "10" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000592711" "00009569" "10" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Ala212Thr)" "" "0000592712" "00009569" "50" "590" "0" "590" "0" "c.590C>T" "r.(?)" "p.(Ala197Val)" "" "0000592713" "00009569" "50" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Trp195*)" "" "0000592714" "00009569" "50" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Pro193Leu)" "" "0000592715" "00009569" "50" "555" "0" "555" "0" "c.555G>A" "r.(=)" "p.(=)" "" "0000592716" "00009569" "10" "513" "0" "513" "0" "c.513T>C" "r.(=)" "p.(=)" "" "0000592717" "00009569" "10" "513" "0" "513" "0" "c.513T>C" "r.(=)" "p.(=)" "" "0000592718" "00009569" "50" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(Gln170Arg)" "" "0000592719" "00009569" "50" "490" "0" "490" "0" "c.490T>C" "r.(=)" "p.(=)" "" "0000592720" "00009569" "10" "489" "0" "489" "0" "c.489G>C" "r.(=)" "p.(=)" "" "0000592721" "00009569" "50" "465" "0" "465" "0" "c.465T>G" "r.(=)" "p.(=)" "" "0000592722" "00009569" "50" "430" "0" "430" "0" "c.430C>A" "r.(?)" "p.(Leu144Met)" "" "0000592723" "00009569" "90" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Gly132Glu)" "" "0000592724" "00009569" "50" "380" "0" "380" "0" "c.380T>G" "r.(?)" "p.(Phe127Cys)" "" "0000592725" "00009569" "10" "366" "0" "366" "0" "c.366C>T" "r.(=)" "p.(=)" "" "0000592726" "00009569" "10" "366" "0" "366" "0" "c.366C>T" "r.(=)" "p.(=)" "" "0000592727" "00009569" "50" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Ser122Asn)" "" "0000592728" "00009569" "50" "351" "0" "351" "0" "c.351G>A" "r.(=)" "p.(=)" "" "0000592729" "00009569" "50" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Gly117Glu)" "" "0000592730" "00009569" "50" "340" "0" "340" "0" "c.340C>A" "r.(?)" "p.(Pro114Thr)" "" "0000592731" "00009569" "50" "333" "0" "333" "0" "c.333G>A" "r.(=)" "p.(=)" "" "0000592732" "00009569" "50" "261" "0" "261" "0" "c.261C>T" "r.(=)" "p.(=)" "" "0000592733" "00009569" "50" "245" "0" "245" "0" "c.245A>C" "r.(?)" "p.(Tyr82Ser)" "" "0000592734" "00009569" "50" "232" "0" "232" "0" "c.232G>A" "r.(?)" "p.(Val78Met)" "" "0000592735" "00009569" "50" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Met)" "" "0000592736" "00009569" "50" "201" "0" "201" "0" "c.201T>A" "r.(=)" "p.(=)" "" "0000592737" "00009569" "50" "198" "0" "198" "0" "c.198C>T" "r.(=)" "p.(=)" "" "0000592738" "00009569" "50" "150" "0" "150" "0" "c.150C>G" "r.(=)" "p.(=)" "" "0000592739" "00009569" "10" "122" "0" "122" "0" "c.122C>T" "r.(?)" "p.(Thr41Met)" "" "0000592740" "00009569" "50" "114" "0" "114" "0" "c.114G>A" "r.(=)" "p.(=)" "" "0000592741" "00009569" "90" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Gly17Val)" "" "0000592742" "00009569" "50" "16" "0" "16" "0" "c.16T>A" "r.(?)" "p.(Tyr6Asn)" "" "0000597238" "00009569" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000616654" "00009569" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000653555" "00009569" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000680910" "00009569" "10" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Ser122=)" "" "0000726479" "00009569" "50" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Trp)" "" "0000808061" "00009569" "30" "602" "-9" "602" "-9" "c.602-9G>A" "r.(=)" "p.(=)" "" "0000854976" "00009569" "50" "853" "0" "853" "0" "c.853del" "r.(?)" "p.(*285Lysext*96)" "" "0000854977" "00009569" "50" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Trp)" "" "0000865337" "00009569" "50" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Cys63Tyr)" "" "0000869114" "00009569" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000869116" "00009569" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Gly84Glu)" "" "0000893994" "00009569" "50" "319" "0" "319" "0" "c.319G>C" "r.(?)" "p.(Ala107Pro)" "" "0000930804" "00009569" "50" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Cys)" "" "0001029979" "00009569" "50" "589" "0" "589" "0" "c.589G>A" "r.(589G>A)" "p.(Ala197Thr)" "1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000262410" "0000592703" "0000262411" "0000592704" "0000262412" "0000592705" "0000262413" "0000592706" "0000262414" "0000592707" "0000262415" "0000592708" "0000262416" "0000592709" "0000262417" "0000592710" "0000262418" "0000592711" "0000262419" "0000592712" "0000262420" "0000592713" "0000262421" "0000592714" "0000262422" "0000592715" "0000262423" "0000592716" "0000262424" "0000592717" "0000262425" "0000592718" "0000262426" "0000592719" "0000262427" "0000592720" "0000262428" "0000592721" "0000262429" "0000592722" "0000262430" "0000592723" "0000262431" "0000592724" "0000262432" "0000592725" "0000262433" "0000592726" "0000262434" "0000592727" "0000262435" "0000592728" "0000262436" "0000592729" "0000262437" "0000592730" "0000262438" "0000592731" "0000262439" "0000592732" "0000262440" "0000592733" "0000262441" "0000592734" "0000262442" "0000592735" "0000262443" "0000592736" "0000262444" "0000592737" "0000262445" "0000592738" "0000262446" "0000592739" "0000262447" "0000592740" "0000262448" "0000592741" "0000262449" "0000592742" "0000266540" "0000597238" "0000296835" "0000653555" "0000411865" "0000869114" "0000411867" "0000869116" "0000466142" "0001029979"