### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BLM) # 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}}" "BLM" "Bloom syndrome, RecQ helicase-like" "15" "q26.1" "unknown" "NG_007272.1" "UD_132085267154" "" "https://www.LOVD.nl/BLM" "" "1" "1058" "641" "604610" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) 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/BLM_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2016-12-10 12:58:41" "00006" "2025-08-26 15:41:15" ## 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}}" "00000040" "BLM" "Bloom syndrome, RecQ helicase-like" "001" "NM_000057.2" "" "NP_000048.1" "" "" "" "-97" "4431" "4254" "91260579" "91358686" "00002" "2012-05-11 13:11:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "01683" "BLM" "Bloom syndrome (BLM)" "AR" "210900" "" "growth restriction, microcephaly, malar rash, cancer predisposition, cardiomyopathy, elevated sister chromatid exchanges" "" "00006" "2014-09-25 23:29:40" "00006" "2024-05-02 19:53:20" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "05464" "HNPCC (Lynch)" "cancer, colorectal, nonpolyposis, hereditary (Lynch syndrome)" "" "" "" "" "" "00006" "2018-08-02 08:56:34" "00006" "2025-07-24 09:00:47" "05489" "cancer, colon" "cancer, colon" "" "" "" "" "" "00006" "2018-10-26 16:33:57" "" "" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BLM" "01683" ## Individuals ## Do not remove or alter this header ## ## Count = 77 "{{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}}" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00090397" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090398" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090399" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090400" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090401" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090402" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090403" "" "" "" "5" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090404" "" "" "" "13" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090405" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090406" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090407" "" "" "" "2" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090408" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090409" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090410" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090411" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090412" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090413" "" "" "" "1" "" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090414" "" "" "" "11" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090415" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090416" "" "" "" "5" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090417" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090418" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090421" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090422" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090423" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090424" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090425" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090426" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090427" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090428" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090430" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090431" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090432" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090433" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090434" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090435" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090436" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090437" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090438" "" "" "" "4" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090439" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090440" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090441" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090881" "" "" "" "1" "" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00246149" "" "" "" "1" "" "00643" "{PMID:Fostira 2020:31300551}" "" "" "" "Greece" "" "0" "" "" "" "" "00248225" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00248276" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00266474" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266475" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Spain" "" "00291342" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291343" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291344" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291345" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291346" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295155" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301395" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00301681" "" "" "" "1" "" "03308" "" "" "M" "no" "Spain" ">79y" "" "" "" "Non-finish European" "" "00301682" "" "" "" "1" "" "03308" "" "" "?" "?" "Spain" "55y" "" "" "" "Non-finish European" "" "00301683" "" "" "" "1" "" "03308" "" "" "?" "?" "Spain" ">41y" "" "" "" "Non-finish European" "" "00306764" "" "" "" "1" "" "00585" "" "" "" "" "Belgium" "" "0" "" "" "" "" "00334286" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334295" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334305" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334327" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334347" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334354" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334481" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335022" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335042" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00406922" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "F" "" "China" "" "0" "" "" "" "374276" "00406926" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "analysis 486 colorectal cancer patients" "F" "" "China" "" "0" "" "" "" "375539" "00414508" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00414511" "" "" "" "1" "" "00103" "" "" "F" "" "Spain" "" "" "" "" "" "" "00434047" "" "" "" "1" "" "03544" "{PMID:Wayhelova 2023:37052241}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/" "F" "" "Czech Republic" "" "0" "" "" "" "patient" "00443444" "" "" "" "1" "" "04599" "" "" "" "" "Mexico" "" "" "" "" "Mexican" "MXCCR1696_S22MXCCR1696_S22me" "00457386" "" "" "" "1" "" "04749" "Yuen (unpublished)" "" "M" "" "Singapore" "" "0" "" "" "white" "MINAS_32" "00466378" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 76 "{{individualid}}" "{{diseaseid}}" "00090397" "00000" "00090398" "00091" "00090399" "00091" "00090400" "00091" "00090401" "00091" "00090402" "00091" "00090403" "00091" "00090404" "00091" "00090405" "00091" "00090406" "00091" "00090407" "00091" "00090408" "00091" "00090409" "00091" "00090410" "00000" "00090411" "00000" "00090412" "00091" "00090413" "00000" "00090414" "00091" "00090415" "00091" "00090416" "00091" "00090417" "00091" "00090418" "00091" "00090421" "00091" "00090422" "00091" "00090423" "00091" "00090424" "00091" "00090425" "00091" "00090426" "00091" "00090427" "00091" "00090428" "00091" "00090430" "00091" "00090431" "00091" "00090432" "00091" "00090433" "00091" "00090434" "00091" "00090435" "00091" "00090436" "00091" "00090437" "00091" "00090438" "00091" "00090439" "00091" "00090440" "00091" "00090441" "00091" "00090881" "00091" "00246149" "00318" "00248225" "00318" "00248276" "00318" "00266474" "05489" "00266475" "05489" "00291342" "00198" "00291343" "00198" "00291344" "00198" "00291345" "00198" "00291346" "00198" "00295155" "00198" "00301395" "00198" "00301681" "05464" "00301682" "05464" "00301683" "05464" "00306764" "01683" "00334286" "05793" "00334295" "05793" "00334305" "05793" "00334327" "05793" "00334347" "05793" "00334354" "05793" "00334481" "05793" "00335022" "05793" "00335042" "05793" "00406922" "05489" "00406926" "05489" "00414508" "00318" "00414511" "00318" "00434047" "01683" "00443444" "05489" "00457386" "04296" "00466378" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00318, 01683, 04296, 05464, 05489, 05793 ## Count = 26 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000186000" "00318" "00246149" "00643" "Unknown" "" "family history; no triple-negative breast cancer; 43y first breast cancer" "" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000187234" "00318" "00248225" "01474" "Unknown" "" "50y ductal breast cancer, subtype luminal B" "50y" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000187285" "00318" "00248276" "01474" "Unknown" "" "67y ductal breast cancer, subtype luminal A" "67y" "" "" "" "" "" "" "" "" "" "" "" "breast cancer" "" "0000204208" "05489" "00266474" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "" "" "colon cancer" "" "0000204209" "05489" "00266475" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "" "" "colon cancer" "" "0000228573" "00198" "00301395" "01164" "Unknown" "" "Multiple cafe-au-lait spots (HP:0007565)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000228782" "05464" "00301681" "03308" "Familial" "" "3xCRC (47y, 65y, 79y)\r\nCarriers: Daughter, BC (46y);daughter, cancer-free (60y)\r\nNon-carriers: 2 daughters, cancer-free (58y, 61y)" "47y" "" "47y" "" "MSS" "" "" "" "" "" "" "" "CRC" "" "0000228783" "05464" "00301682" "03308" "Unknown" "" "1st degree relative: CRC (83y)" "" "" "" "" "" "" "" "" "" "" "" "" "Head and neck cancer (55y)" "" "0000228784" "05464" "00301683" "03308" "Unknown" "41y" "2nd degree relatives: endometrial cancer; ovarian cancer" "41y" "41y" "41y" "" "MSS" "" "" "" "" "" "" "" "CRC (41y)" "" "0000253096" "05793" "00334286" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253105" "05793" "00334295" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253115" "05793" "00334305" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253137" "05793" "00334327" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253142" "05793" "00334347" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253149" "05793" "00334354" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253194" "05793" "00334481" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253304" "05793" "00335022" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253324" "05793" "00335042" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000299371" "05489" "00406922" "00006" "Unknown" "54y" "colon cancer (sigmoid), stage II); mismatch repair status proficient; colorectal cancer (sister 48y);" "" "" "" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" "0000299375" "05489" "00406926" "00006" "Unknown" "31y" "colon cancer (rectum), stage II); mismatch repair status proficient; no family history" "" "" "" "" "" "" "" "" "" "" "" "" "colorectal cancer" "" "0000306332" "00318" "00414508" "00103" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000306333" "00318" "00414511" "00103" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000324426" "01683" "00434047" "03544" "Familial, autosomal recessive" "" "growth restriction, hypotrophy, facial abnormality" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333075" "05489" "00443444" "04599" "Unknown" "53" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345848" "04296" "00457386" "04749" "Unknown" "" "No features 33y" "" "" "" "" "" "" "" "" "" "" "" "" "MINAS" "" "0000351742" "00198" "00466378" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:00004322, HP:0001256, HP:0011342, HP:0003220" "" "" "" "" "" "" "" "" "" "" "" "BLM" "multiple congenital abnormalities, chromosome instability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 78 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000090542" "00090397" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090543" "00090398" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090544" "00090399" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090545" "00090400" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090546" "00090401" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090547" "00090402" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090548" "00090403" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090549" "00090404" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090550" "00090405" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090551" "00090406" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090552" "00090407" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090553" "00090408" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090554" "00090409" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090555" "00090410" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090556" "00090411" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090557" "00090412" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090558" "00090413" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090559" "00090414" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090560" "00090415" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090561" "00090416" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090562" "00090417" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090563" "00090418" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090566" "00090421" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090567" "00090422" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090568" "00090423" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090569" "00090424" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090570" "00090425" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090571" "00090426" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090572" "00090427" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090573" "00090428" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090575" "00090430" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090576" "00090431" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090577" "00090432" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090578" "00090433" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090579" "00090434" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090580" "00090435" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090581" "00090436" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090582" "00090437" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090583" "00090438" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090584" "00090439" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090585" "00090440" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090586" "00090441" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091026" "00090881" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000247261" "00246149" "1" "00643" "00006" "2019-07-12 12:55:51" "" "" "SEQ" "DNA" "" "gene panel" "0000249330" "00248225" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000249381" "00248276" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000267600" "00266474" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000267601" "00266475" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000292510" "00291342" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292511" "00291343" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292512" "00291344" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292513" "00291345" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292514" "00291346" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296323" "00295155" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302516" "00301395" "1" "01164" "01164" "2020-05-15 11:22:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000302806" "00301681" "1" "03308" "03308" "2020-05-20 10:01:34" "" "" "SEQ" "DNA" "Blood" "" "0000302807" "00301682" "1" "03308" "03308" "2020-05-20 10:24:13" "" "" "SEQ" "DNA" "Blood" "" "0000302808" "00301683" "1" "03308" "03308" "2020-05-20 10:33:15" "" "" "SEQ" "DNA" "Blood" "" "0000307899" "00306764" "1" "00585" "00585" "2020-07-17 23:03:01" "" "" "PCR;PCRlr;RT-PCR;SEQ" "DNA;RNA" "" "" "0000307900" "00306764" "1" "00585" "00585" "2020-07-17 23:25:18" "" "" "Western" "protein" "" "" "0000335512" "00334286" "1" "04011" "04011" "2021-02-27 03:11:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335522" "00334295" "1" "04011" "04011" "2021-02-27 05:21:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335533" "00334305" "1" "04011" "04011" "2021-02-27 06:52:27" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335555" "00334327" "1" "04011" "04011" "2021-02-27 15:00:00" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335575" "00334347" "1" "04011" "04011" "2021-02-28 03:19:16" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335582" "00334354" "1" "04011" "04011" "2021-02-28 04:48:03" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335710" "00334481" "1" "04011" "04011" "2021-03-01 03:42:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336251" "00335022" "1" "04011" "04011" "2021-03-03 03:31:15" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336271" "00335042" "1" "04011" "04011" "2021-03-03 06:38:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000408168" "00406922" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000408172" "00406926" "1" "00006" "00006" "2022-04-05 15:38:44" "" "" "SEQ-NG" "DNA" "" "81-gene panel" "0000415789" "00414508" "1" "00103" "00103" "2022-07-28 15:57:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000415793" "00414511" "1" "00103" "00103" "2022-07-28 16:04:37" "" "" "SEQ-NG-I" "DNA" "" "" "0000435510" "00434047" "1" "03544" "03544" "2023-03-18 06:45:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000444933" "00443444" "1" "04599" "04599" "2023-11-26 23:36:57" "04599" "2023-11-27 22:07:37" "SEQ-NG-I" "DNA" "Blood" "" "0000459006" "00457386" "1" "04749" "00006" "2024-10-10 14:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000468040" "00466378" "1" "03544" "03544" "2025-08-26 13:26:41" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000000035" "ADA" "0000000035" "ATP7B" "0000000035" "BLM" "0000000035" "CFTR" "0000000035" "DPYD" "0000000035" "ETFB" "0000000035" "GLB1" "0000000035" "HBB" "0000000035" "IGHMBP2" "0000000035" "MYO5A" "0000000035" "PKHD1" "0000000035" "SERPINA1" "0000000035" "SMPD1" "0000090542" "BLM" "0000090543" "BLM" "0000090544" "BLM" "0000090545" "BLM" "0000090546" "BLM" "0000090547" "BLM" "0000090548" "BLM" "0000090549" "BLM" "0000090550" "BLM" "0000090551" "BLM" "0000090552" "BLM" "0000090553" "BLM" "0000090554" "BLM" "0000090555" "BLM" "0000090556" "BLM" "0000090557" "BLM" "0000090558" "BLM" "0000090559" "BLM" "0000090560" "BLM" "0000090561" "BLM" "0000090562" "BLM" "0000090563" "BLM" "0000090566" "BLM" "0000090567" "BLM" "0000090568" "BLM" "0000090569" "BLM" "0000090570" "BLM" "0000090571" "BLM" "0000090572" "BLM" "0000090573" "BLM" "0000090575" "BLM" "0000090576" "BLM" "0000090577" "BLM" "0000090578" "BLM" "0000090579" "BLM" "0000090580" "BLM" "0000090581" "BLM" "0000090582" "BLM" "0000090583" "BLM" "0000090584" "BLM" "0000090585" "BLM" "0000090586" "BLM" "0000091026" "BLM" "0000247261" "BLM" "0000302806" "BLM" "0000302807" "BLM" "0000302808" "BLM" "0000307899" "BLM" "0000307900" "BLM" "0000415789" "BLM" "0000415793" "BLM" "0000444933" "BLM" ## 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 = 231 "{{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}}" "0000000556" "0" "50" "15" "91292815" "91292815" "subst" "0" "00002" "BLM_000001" "g.91292815C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.90749585C>A" "" "VUS" "" "0000148671" "1" "50" "15" "91290633" "91290633" "subst" "0.00113807" "01816" "BLM_000038" "g.91290633T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90747403T>C" "" "VUS" "" "0000148672" "1" "50" "15" "91290633" "91290633" "subst" "0.00113807" "01816" "BLM_000038" "g.91290633T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90747403T>C" "" "VUS" "" "0000148673" "1" "50" "15" "91292689" "91292689" "subst" "0.000243942" "01816" "BLM_000039" "g.91292689A>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749459A>T" "" "VUS" "" "0000148674" "1" "50" "15" "91292752" "91292752" "subst" "0.000515971" "01816" "BLM_000040" "g.91292752G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749522G>C" "" "VUS" "" "0000148675" "1" "50" "15" "91292772" "91292772" "subst" "0.000134074" "01816" "BLM_000041" "g.91292772A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749542A>G" "" "VUS" "" "0000148676" "1" "50" "15" "91292901" "91292901" "subst" "2.84409E-5" "01816" "BLM_000037" "g.91292901G>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749671G>T" "" "VUS" "" "0000148677" "1" "10" "15" "91292908" "91292908" "subst" "0.00102784" "01816" "BLM_000018" "g.91292908A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749678A>G" "" "benign" "" "0000148678" "1" "10" "15" "91292917" "91292917" "subst" "0.00226674" "01816" "BLM_000019" "g.91292917A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749687A>G" "" "benign" "" "0000148679" "1" "50" "15" "91293048" "91293048" "subst" "0" "01816" "BLM_000020" "g.91293048C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749818C>G" "" "VUS" "" "0000148680" "1" "50" "15" "91293115" "91293115" "subst" "0" "01816" "BLM_000021" "g.91293115C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749885C>A" "" "VUS" "" "0000148681" "1" "50" "15" "91293213" "91293213" "subst" "0.000113865" "01816" "BLM_000022" "g.91293213G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90749983G>A" "" "VUS" "" "0000148682" "1" "50" "15" "91295028" "91295028" "" "0" "01816" "BLM_000023" "g.91295028delAAG" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148683" "1" "50" "15" "91295080" "91295080" "subst" "0" "01816" "BLM_000024" "g.91295080G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90751850G>A" "" "VUS" "" "0000148684" "1" "50" "15" "91298049" "91298049" "subst" "0.0003583" "01816" "BLM_000025" "g.91298049A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90754819A>G" "" "VUS" "" "0000148685" "1" "50" "15" "91298087" "91298087" "subst" "0" "01816" "BLM_000026" "g.91298087A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90754857A>G" "" "VUS" "" "0000148686" "1" "50" "15" "91304441" "91304441" "subst" "2.67337E-5" "01816" "BLM_000027" "g.91304441C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90761211C>T" "" "VUS" "" "0000148687" "1" "30" "15" "91306241" "91306241" "subst" "0.00322625" "01816" "BLM_000028" "g.91306241G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90763011G>A" "" "likely benign" "" "0000148688" "1" "30" "15" "91306241" "91306241" "subst" "0.00322625" "01816" "BLM_000028" "g.91306241G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90763011G>A" "" "likely benign" "" "0000148689" "1" "50" "15" "91306247" "91306247" "subst" "4.07568E-5" "01816" "BLM_000029" "g.91306247A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90763017A>G" "" "VUS" "" "0000148690" "1" "30" "15" "91308570" "91308570" "subst" "0.00166112" "01816" "BLM_000030" "g.91308570C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90765340C>T" "" "likely benign" "" "0000148691" "1" "50" "15" "91308612" "91308612" "subst" "4.46951E-5" "01816" "BLM_000031" "g.91308612G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90765382G>A" "" "VUS" "" "0000148692" "1" "50" "15" "91310153" "91310153" "" "0" "01816" "BLM_000032" "g.91310153delATC" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000148695" "1" "50" "15" "91310209" "91310209" "subst" "0.000273521" "01816" "BLM_000033" "g.91310209A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90766979A>G" "" "VUS" "" "0000148696" "1" "50" "15" "91310239" "91310239" "subst" "0.000336673" "01816" "BLM_000034" "g.91310239G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90767009G>A" "" "VUS" "" "0000148697" "1" "50" "15" "91312376" "91312376" "subst" "0" "01816" "BLM_000035" "g.91312376A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90769146A>G" "" "VUS" "" "0000148698" "1" "50" "15" "91312417" "91312417" "subst" "0.000917722" "01816" "BLM_000036" "g.91312417C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90769187C>A" "" "VUS" "" "0000148699" "1" "50" "15" "91312426" "91312426" "subst" "0.00012589" "01816" "BLM_000013" "g.91312426C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90769196C>T" "" "VUS" "" "0000148700" "1" "50" "15" "91312693" "91312693" "subst" "4.06121E-6" "01816" "BLM_000014" "g.91312693A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90769463A>G" "" "VUS" "" "0000148701" "1" "50" "15" "91312714" "91312714" "subst" "8.12242E-6" "01816" "BLM_000015" "g.91312714G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90769484G>A" "" "VUS" "" "0000148702" "1" "50" "15" "91312735" "91312735" "subst" "2.43683E-5" "01816" "BLM_000016" "g.91312735C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90769505C>T" "" "VUS" "" "0000148704" "1" "50" "15" "91326134" "91326134" "subst" "4.87757E-5" "01816" "BLM_000017" "g.91326134G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90782904G>C" "" "VUS" "" "0000148705" "1" "50" "15" "91333898" "91333898" "subst" "0" "01816" "BLM_000002" "g.91333898C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90790668C>A" "" "VUS" "" "0000148706" "1" "50" "15" "91333946" "91333946" "subst" "0" "01816" "BLM_000003" "g.91333946C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90790716C>T" "" "VUS" "" "0000148707" "1" "90" "15" "91334066" "91334066" "" "0" "01816" "BLM_000004" "g.91334066delTT" "" "Thibodeau lab (Mayo Clinic)" "" "" "Variant Error [EINCONSISTENTLENGTH]: This genomic variant has an error (Length implied by coordinates must equal sequence deletion length). Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000148708" "1" "10" "15" "91337505" "91337505" "subst" "0.000845955" "01816" "BLM_000005" "g.91337505C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90794275C>A" "" "benign" "" "0000148709" "1" "50" "15" "91341567" "91341567" "subst" "4.07123E-6" "01816" "BLM_000006" "g.91341567G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90798337G>A" "" "VUS" "" "0000148710" "1" "50" "15" "91346819" "91346819" "subst" "0.000105627" "01816" "BLM_000007" "g.91346819G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90803589G>A" "" "VUS" "" "0000148711" "1" "50" "15" "91347430" "91347430" "subst" "0.000231704" "01816" "BLM_000008" "g.91347430G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90804200G>A" "" "VUS" "" "0000148712" "1" "50" "15" "91347463" "91347463" "subst" "0.000361571" "01816" "BLM_000009" "g.91347463T>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90804233T>A" "" "VUS" "" "0000148713" "1" "50" "15" "91354509" "91354509" "subst" "0.000207139" "01816" "BLM_000010" "g.91354509G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90811279G>A" "" "VUS" "" "0000148714" "1" "50" "15" "91354551" "91354551" "subst" "8.12196E-6" "01816" "BLM_000011" "g.91354551A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90811321A>G" "" "VUS" "" "0000148715" "1" "50" "15" "91358432" "91358432" "subst" "8.12143E-6" "01816" "BLM_000012" "g.91358432A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90815202A>G" "" "VUS" "" "0000149155" "3" "10" "15" "91337505" "91337505" "subst" "0.000845955" "01816" "BLM_000005" "g.91337505C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.90794275C>A" "" "benign" "" "0000249915" "0" "10" "15" "91292908" "91292908" "subst" "0.00102784" "02329" "BLM_000018" "g.91292908A>G" "" "" "" "BLM(NM_000057.4):c.410A>G (p.K137R), BLM(NM_001287246.1):c.410A>G (p.K137R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90749678A>G" "" "benign" "" "0000249955" "0" "10" "15" "91304325" "91304325" "subst" "0.00643926" "02329" "BLM_000053" "g.91304325A>G" "" "" "" "BLM(NM_000057.4):c.1722A>G (p.L574=), BLM(NM_001287248.1):c.597A>G (p.L199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90761095A>G" "" "benign" "" "0000250506" "0" "90" "15" "91347519" "91347519" "del" "0" "02329" "BLM_000081" "g.91347519del" "" "" "" "BLM(NM_001287248.2):c.2556delA (p.K852Nfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90804289del" "" "pathogenic" "" "0000253139" "0" "10" "15" "91292908" "91292908" "subst" "0.00102784" "01943" "BLM_000018" "g.91292908A>G" "" "" "" "BLM(NM_000057.4):c.410A>G (p.K137R), BLM(NM_001287246.1):c.410A>G (p.K137R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90749678A>G" "" "benign" "" "0000254046" "0" "30" "15" "91304325" "91304325" "subst" "0.00643926" "01943" "BLM_000053" "g.91304325A>G" "" "" "" "BLM(NM_000057.4):c.1722A>G (p.L574=), BLM(NM_001287248.1):c.597A>G (p.L199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90761095A>G" "" "likely benign" "" "0000254612" "0" "30" "15" "91310214" "91310214" "subst" "0.00186891" "01943" "BLM_000058" "g.91310214A>G" "" "" "" "BLM(NM_000057.2):c.2268A>G (p.K756=), BLM(NM_000057.4):c.2268A>G (p.K756=), BLM(NM_001287248.1):c.1143A>G (p.K381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90766984A>G" "" "likely benign" "" "0000256164" "0" "50" "15" "91298049" "91298049" "subst" "0.0003583" "01943" "BLM_000025" "g.91298049A>G" "" "" "" "BLM(NM_001287246.1):c.968A>G (p.K323R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90754819A>G" "" "VUS" "" "0000256343" "0" "50" "15" "91354575" "91354575" "subst" "0" "01943" "BLM_000085" "g.91354575A>G" "" "" "" "BLM(NM_001287248.1):c.2890A>G (p.M964V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811345A>G" "" "VUS" "" "0000259272" "0" "10" "15" "91326099" "91326099" "subst" "0.0558469" "02325" "BLM_000060" "g.91326099C>T" "" "" "" "BLM(NM_000057.2):c.2603C>T (p.P868L), BLM(NM_000057.4):c.2603C>T (p.P868L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90782869C>T" "" "benign" "" "0000259590" "0" "30" "15" "91337421" "91337421" "subst" "0.000123007" "02325" "BLM_000065" "g.91337421C>T" "" "" "" "BLM(NM_000057.4):c.3044C>T (p.T1015I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90794191C>T" "" "likely benign" "" "0000260380" "0" "90" "15" "91328183" "91328183" "subst" "6.09286E-5" "02329" "BLM_000061" "g.91328183C>T" "" "" "" "BLM(NM_000057.2):c.2695C>T (p.R899*), BLM(NM_000057.4):c.2695C>T (p.R899*), BLM(NM_001287248.1):c.1570C>T (p.R524*), BLM(NM_001287248.2):c.1570C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90784953C>T" "" "pathogenic" "" "0000260381" "0" "30" "15" "91304374" "91304374" "subst" "0" "02329" "BLM_000054" "g.91304374C>G" "" "" "" "BLM(NM_000057.4):c.1771C>G (p.R591G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90761144C>G" "" "likely benign" "" "0000260382" "0" "30" "15" "91306241" "91306241" "subst" "0.00322625" "02329" "BLM_000028" "g.91306241G>A" "" "" "" "BLM(NM_000057.2):c.1928G>A (p.R643H), BLM(NM_000057.4):c.1928G>A (p.R643H), BLM(NM_001287248.1):c.803G>A (p.R268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763011G>A" "" "likely benign" "" "0000260383" "0" "30" "15" "91328208" "91328208" "subst" "0.000105592" "02329" "BLM_000062" "g.91328208C>T" "" "" "" "BLM(NM_000057.4):c.2720C>T (p.T907M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90784978C>T" "" "likely benign" "" "0000260384" "0" "50" "15" "91334069" "91334069" "subst" "8.13173E-6" "02329" "BLM_000064" "g.91334069T>C" "" "" "" "BLM(NM_000057.4):c.3014T>C (p.(Ile1005Thr), p.I1005T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90790839T>C" "" "VUS" "" "0000260385" "0" "30" "15" "91352443" "91352443" "subst" "0.000117771" "02329" "BLM_000082" "g.91352443G>A" "" "" "" "BLM(NM_000057.4):c.3828G>A (p.A1276=), BLM(NM_001287248.1):c.2703G>A (p.A901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90809213G>A" "" "likely benign" "" "0000260386" "0" "30" "15" "91292893" "91292893" "subst" "1.21888E-5" "02329" "BLM_000044" "g.91292893G>A" "" "" "" "BLM(NM_000057.4):c.395G>A (p.R132Q), BLM(NM_001287246.1):c.395G>A (p.R132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90749663G>A" "" "likely benign" "" "0000260387" "0" "10" "15" "91354520" "91354520" "subst" "0.00114131" "02329" "BLM_000083" "g.91354520C>T" "" "" "" "BLM(NM_000057.4):c.3960C>T (p.P1320=), BLM(NM_001287248.1):c.2835C>T (p.P945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811290C>T" "" "benign" "" "0000260388" "0" "30" "15" "91354640" "91354640" "subst" "0.0044394" "02329" "BLM_000086" "g.91354640T>G" "" "" "" "BLM(NM_000057.2):c.4076+4T>G, BLM(NM_000057.4):c.4076+4T>G, BLM(NM_001287248.1):c.2951+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811410T>G" "" "likely benign" "" "0000260389" "0" "30" "15" "91358367" "91358367" "subst" "2.84257E-5" "02329" "BLM_000089" "g.91358367C>T" "" "" "" "BLM(NM_000057.4):c.4112C>T (p.T1371M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815137C>T" "" "likely benign" "" "0000260390" "0" "30" "15" "91358441" "91358441" "subst" "8.52743E-5" "02329" "BLM_000090" "g.91358441T>C" "" "" "" "BLM(NM_000057.4):c.4186T>C (p.L1396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815211T>C" "" "likely benign" "" "0000260391" "0" "10" "15" "91295110" "91295110" "subst" "0.00946977" "02329" "BLM_000047" "g.91295110C>T" "" "" "" "BLM(NM_000057.2):c.893C>T (p.(Thr298Met)), BLM(NM_000057.4):c.893C>T (p.T298M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90751880C>T" "" "benign" "" "0000261470" "0" "90" "15" "91328183" "91328183" "subst" "6.09286E-5" "02326" "BLM_000061" "g.91328183C>T" "" "" "" "BLM(NM_000057.2):c.2695C>T (p.R899*), BLM(NM_000057.4):c.2695C>T (p.R899*), BLM(NM_001287248.1):c.1570C>T (p.R524*), BLM(NM_001287248.2):c.1570C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90784953C>T" "" "pathogenic" "" "0000261471" "0" "10" "15" "91306241" "91306241" "subst" "0.00322625" "02326" "BLM_000028" "g.91306241G>A" "" "" "" "BLM(NM_000057.2):c.1928G>A (p.R643H), BLM(NM_000057.4):c.1928G>A (p.R643H), BLM(NM_001287248.1):c.803G>A (p.R268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763011G>A" "" "benign" "" "0000261472" "0" "50" "15" "91306293" "91306293" "subst" "0" "02326" "BLM_000056" "g.91306293T>A" "" "" "" "BLM(NM_000057.2):c.1980T>A (p.H660Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763063T>A" "" "VUS" "" "0000261473" "0" "30" "15" "91326099" "91326099" "subst" "0.0558469" "02326" "BLM_000060" "g.91326099C>T" "" "" "" "BLM(NM_000057.2):c.2603C>T (p.P868L), BLM(NM_000057.4):c.2603C>T (p.P868L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90782869C>T" "" "likely benign" "" "0000261474" "0" "30" "15" "91358327" "91358327" "subst" "7.72194E-5" "02326" "BLM_000088" "g.91358327T>C" "" "" "" "BLM(NM_000057.2):c.4077-5T>C, BLM(NM_001287248.1):c.2952-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815097T>C" "" "likely benign" "" "0000261475" "0" "30" "15" "91346867" "91346867" "subst" "4.06141E-6" "02326" "BLM_000066" "g.91346867T>C" "" "" "" "BLM(NM_000057.2):c.3475T>C (p.L1159=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90803637T>C" "" "likely benign" "" "0000261476" "0" "30" "15" "91354640" "91354640" "subst" "0.0044394" "02326" "BLM_000086" "g.91354640T>G" "" "" "" "BLM(NM_000057.2):c.4076+4T>G, BLM(NM_000057.4):c.4076+4T>G, BLM(NM_001287248.1):c.2951+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811410T>G" "" "likely benign" "" "0000261477" "0" "10" "15" "91358322" "91358322" "subst" "0.000512533" "02326" "BLM_000087" "g.91358322C>T" "" "" "" "BLM(NM_000057.2):c.4077-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815092C>T" "" "benign" "" "0000263707" "0" "30" "15" "91298125" "91298125" "subst" "0.00022795" "01943" "BLM_000048" "g.91298125G>A" "" "" "" "BLM(NM_001287246.1):c.1044G>A (p.M348I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90754895G>A" "" "likely benign" "" "0000263708" "0" "30" "15" "91290633" "91290633" "subst" "0.00113807" "01943" "BLM_000038" "g.91290633T>C" "" "" "" "BLM(NM_000057.2):c.11T>C (p.(Val4Ala), p.V4A), BLM(NM_001287246.1):c.11T>C (p.V4A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90747403T>C" "" "likely benign" "" "0000263709" "0" "50" "15" "91333927" "91333927" "subst" "1.62455E-5" "01943" "BLM_000063" "g.91333927G>A" "" "" "" "BLM(NM_001287248.1):c.1747G>A (p.V583M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90790697G>A" "" "VUS" "" "0000263710" "0" "30" "15" "91306241" "91306241" "subst" "0.00322625" "01943" "BLM_000028" "g.91306241G>A" "" "" "" "BLM(NM_000057.2):c.1928G>A (p.R643H), BLM(NM_000057.4):c.1928G>A (p.R643H), BLM(NM_001287248.1):c.803G>A (p.R268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763011G>A" "" "likely benign" "" "0000263712" "0" "50" "15" "91354536" "91354536" "subst" "4.06138E-6" "01943" "BLM_000084" "g.91354536T>A" "" "" "" "BLM(NM_001287248.1):c.2851T>A (p.F951I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811306T>A" "" "VUS" "" "0000263713" "0" "30" "15" "91358327" "91358327" "subst" "7.72194E-5" "01943" "BLM_000088" "g.91358327T>C" "" "" "" "BLM(NM_000057.2):c.4077-5T>C, BLM(NM_001287248.1):c.2952-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90815097T>C" "" "likely benign" "" "0000263714" "0" "50" "15" "91292892" "91292892" "subst" "6.09439E-5" "01943" "BLM_000043" "g.91292892C>T" "" "" "" "BLM(NM_001287246.1):c.394C>T (p.R132W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90749662C>T" "" "VUS" "" "0000263715" "0" "10" "15" "91354520" "91354520" "subst" "0.00114131" "01943" "BLM_000083" "g.91354520C>T" "" "" "" "BLM(NM_000057.4):c.3960C>T (p.P1320=), BLM(NM_001287248.1):c.2835C>T (p.P945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811290C>T" "" "benign" "" "0000263716" "0" "50" "15" "91290665" "91290665" "subst" "0.000226705" "01943" "BLM_000042" "g.91290665C>T" "" "" "" "BLM(NM_001287246.1):c.43C>T (p.R15C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90747435C>T" "" "VUS" "" "0000263717" "0" "30" "15" "91292963" "91292963" "subst" "0.000316875" "01943" "BLM_000045" "g.91292963T>C" "" "" "" "BLM(NM_000057.2):c.465T>C (p.(Asp155=), p.D155=), BLM(NM_001287246.1):c.465T>C (p.D155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90749733T>C" "" "likely benign" "" "0000263718" "0" "70" "15" "91304245" "91304245" "subst" "0.000137606" "01943" "BLM_000052" "g.91304245C>T" "" "" "" "BLM(NM_000057.2):c.1642C>T (p.Q548*), BLM(NM_000057.4):c.1642C>T (p.Q548*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90761015C>T" "" "likely pathogenic" "" "0000263719" "0" "50" "15" "91303490" "91303490" "subst" "4.0618E-6" "01943" "BLM_000050" "g.91303490C>T" "" "" "" "BLM(NM_001287248.1):c.76C>T (p.L26F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90760260C>T" "" "VUS" "" "0000263720" "0" "30" "15" "91295025" "91295025" "subst" "6.10044E-5" "01943" "BLM_000046" "g.91295025G>A" "" "" "" "BLM(NM_001287246.1):c.808G>A (p.E270K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90751795G>A" "" "likely benign" "" "0000263721" "0" "30" "15" "91306272" "91306272" "subst" "0" "01943" "BLM_000055" "g.91306272G>A" "" "" "" "BLM(NM_001287248.1):c.834G>A (p.K278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763042G>A" "" "likely benign" "" "0000324319" "0" "50" "15" "91304156" "91304156" "subst" "0" "01804" "BLM_000051" "g.91304156C>G" "" "" "" "BLM(NM_000057.2):c.1553C>G (p.(Ser518Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90760926C>G" "" "VUS" "" "0000324321" "0" "50" "15" "91354576" "91354576" "subst" "1.21839E-5" "01804" "BLM_000110" "g.91354576T>C" "" "" "" "BLM(NM_000057.2):c.4016T>C (p.(Met1339Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811346T>C" "" "VUS" "" "0000338899" "0" "70" "15" "91290726" "91290726" "subst" "9.09157E-6" "02327" "BLM_000068" "g.91290726T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90747496T>G" "" "likely pathogenic" "" "0000338900" "0" "90" "15" "91312667" "91312667" "subst" "0" "02327" "BLM_000073" "g.91312667G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90769437G>T" "" "pathogenic" "" "0000338901" "0" "10" "15" "91312816" "91312816" "subst" "0" "02327" "BLM_000075" "g.91312816T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90769586T>C" "" "benign" "" "0000339203" "0" "10" "15" "91337479" "91337479" "subst" "0.15611" "02327" "BLM_000076" "g.91337479G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90794249G>A" "" "benign" "" "0000339204" "0" "10" "15" "91354505" "91354505" "subst" "0.151471" "02327" "BLM_000079" "g.91354505C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811275C>T" "" "benign" "" "0000340563" "0" "10" "15" "91346923" "91346923" "subst" "0.151372" "02327" "BLM_000077" "g.91346923C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90803693C>A" "" "benign" "" "0000343200" "0" "10" "15" "91306241" "91306241" "subst" "0.00322625" "02327" "BLM_000028" "g.91306241G>A" "" "" "" "BLM(NM_000057.2):c.1928G>A (p.R643H), BLM(NM_000057.4):c.1928G>A (p.R643H), BLM(NM_001287248.1):c.803G>A (p.R268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763011G>A" "" "benign" "" "0000343465" "0" "90" "15" "91328183" "91328183" "subst" "6.09286E-5" "02327" "BLM_000061" "g.91328183C>T" "" "" "" "BLM(NM_000057.2):c.2695C>T (p.R899*), BLM(NM_000057.4):c.2695C>T (p.R899*), BLM(NM_001287248.1):c.1570C>T (p.R524*), BLM(NM_001287248.2):c.1570C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90784953C>T" "" "pathogenic" "" "0000344894" "0" "90" "15" "91304245" "91304245" "subst" "0.000137606" "02327" "BLM_000052" "g.91304245C>T" "" "" "" "BLM(NM_000057.2):c.1642C>T (p.Q548*), BLM(NM_000057.4):c.1642C>T (p.Q548*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90761015C>T" "" "pathogenic" "" "0000344925" "0" "90" "15" "91306246" "91306246" "subst" "4.07618E-5" "02327" "BLM_000071" "g.91306246C>T" "" "" "" "BLM(NM_000057.4):c.1933C>T (p.(Gln645Ter)), BLM(NM_001287248.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90763016C>T" "" "pathogenic" "" "0000348560" "0" "30" "15" "91308570" "91308570" "subst" "0.00166112" "02327" "BLM_000030" "g.91308570C>T" "" "" "" "BLM(NM_000057.2):c.2119C>T (p.(Pro707Ser), p.P707S), BLM(NM_000057.4):c.2119C>T (p.P707S), BLM(NM_001287248.1):c.994C>T (p.P332S), BLM(NM_00128724...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90765340C>T" "" "likely benign" "" "0000348599" "0" "10" "15" "91326099" "91326099" "subst" "0.0558469" "02327" "BLM_000060" "g.91326099C>T" "" "" "" "BLM(NM_000057.2):c.2603C>T (p.P868L), BLM(NM_000057.4):c.2603C>T (p.P868L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90782869C>T" "" "benign" "" "0000348677" "0" "30" "15" "91347463" "91347463" "subst" "0.000361571" "02327" "BLM_000009" "g.91347463T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90804233T>A" "" "likely benign" "" "0000349801" "0" "90" "15" "91303887" "91303887" "subst" "0" "02327" "BLM_000070" "g.91303887G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90760657G>A" "" "pathogenic" "" "0000350275" "0" "10" "15" "91354521" "91354521" "subst" "0.0663972" "02327" "BLM_000080" "g.91354521G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90811291G>A" "" "benign" "" "0000350695" "0" "50" "15" "91333927" "91333927" "subst" "1.62455E-5" "02327" "BLM_000063" "g.91333927G>A" "" "" "" "BLM(NM_001287248.1):c.1747G>A (p.V583M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90790697G>A" "" "VUS" "" "0000500107" "0" "90" "15" "91304245" "91304245" "subst" "0.000137606" "00643" "BLM_000052" "g.91304245C>T" "" "{PMID:Fostira 2020:31300551}" "" "" "" "Germline" "" "" "0" "" "" "g.90761015C>T" "" "pathogenic" "" "0000556215" "0" "50" "15" "91290633" "91290633" "subst" "0.00113807" "01804" "BLM_000038" "g.91290633T>C" "" "" "" "BLM(NM_000057.2):c.11T>C (p.(Val4Ala), p.V4A), BLM(NM_001287246.1):c.11T>C (p.V4A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90747403T>C" "" "VUS" "" "0000556216" "0" "50" "15" "91290683" "91290683" "subst" "0" "02325" "BLM_000091" "g.91290683C>T" "" "" "" "BLM(NM_001287246.2):c.61C>T (p.L21F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90747453C>T" "" "VUS" "" "0000556217" "0" "30" "15" "91292684" "91292684" "subst" "8.13392E-6" "01804" "BLM_000092" "g.91292684T>G" "" "" "" "BLM(NM_000057.2):c.186T>G (p.(Asn62Lys)), BLM(NM_000057.4):c.186T>G (p.N62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90749454T>G" "" "likely benign" "" "0000556218" "0" "30" "15" "91292752" "91292752" "subst" "0.000515971" "01943" "BLM_000040" "g.91292752G>C" "" "" "" "BLM(NM_001287246.1):c.254G>C (p.R85T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90749522G>C" "" "likely benign" "" "0000556219" "0" "30" "15" "91292978" "91292978" "subst" "4.06332E-6" "01804" "BLM_000093" "g.91292978T>C" "" "" "" "BLM(NM_000057.2):c.480T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90749748T>C" "" "likely benign" "" "0000556220" "0" "30" "15" "91293275" "91293275" "subst" "0" "01804" "BLM_000094" "g.91293275A>C" "" "" "" "BLM(NM_000057.2):c.777A>C (p.(Lys259Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90750045A>C" "" "likely benign" "" "0000556221" "0" "30" "15" "91298158" "91298158" "subst" "4.07508E-6" "02326" "BLM_000095" "g.91298158A>G" "" "" "" "BLM(NM_000057.2):c.1077A>G (p.T359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90754928A>G" "" "likely benign" "" "0000556222" "0" "50" "15" "91303500" "91303500" "subst" "2.84368E-5" "01943" "BLM_000096" "g.91303500G>A" "" "" "" "BLM(NM_001287248.1):c.86G>A (p.R29Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90760270G>A" "" "VUS" "" "0000556225" "0" "50" "15" "91304441" "91304441" "subst" "2.67337E-5" "01804" "BLM_000027" "g.91304441C>T" "" "" "" "BLM(NM_000057.2):c.1838C>T (p.(Thr613Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90761211C>T" "" "VUS" "" "0000556227" "0" "90" "15" "91306246" "91306246" "subst" "4.07618E-5" "01943" "BLM_000071" "g.91306246C>T" "" "" "" "BLM(NM_000057.4):c.1933C>T (p.(Gln645Ter)), BLM(NM_001287248.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90763016C>T" "" "pathogenic" "" "0000556228" "0" "30" "15" "91308570" "91308570" "subst" "0.00166112" "01943" "BLM_000030" "g.91308570C>T" "" "" "" "BLM(NM_000057.2):c.2119C>T (p.(Pro707Ser), p.P707S), BLM(NM_000057.4):c.2119C>T (p.P707S), BLM(NM_001287248.1):c.994C>T (p.P332S), BLM(NM_00128724...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90765340C>T" "" "likely benign" "" "0000556229" "0" "30" "15" "91308570" "91308570" "subst" "0.00166112" "02325" "BLM_000030" "g.91308570C>T" "" "" "" "BLM(NM_000057.2):c.2119C>T (p.(Pro707Ser), p.P707S), BLM(NM_000057.4):c.2119C>T (p.P707S), BLM(NM_001287248.1):c.994C>T (p.P332S), BLM(NM_00128724...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90765340C>T" "" "likely benign" "" "0000556230" "0" "30" "15" "91308570" "91308570" "subst" "0.00166112" "02326" "BLM_000030" "g.91308570C>T" "" "" "" "BLM(NM_000057.2):c.2119C>T (p.(Pro707Ser), p.P707S), BLM(NM_000057.4):c.2119C>T (p.P707S), BLM(NM_001287248.1):c.994C>T (p.P332S), BLM(NM_00128724...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90765340C>T" "" "likely benign" "" "0000556232" "0" "30" "15" "91310214" "91310214" "subst" "0.00186891" "02326" "BLM_000058" "g.91310214A>G" "" "" "" "BLM(NM_000057.2):c.2268A>G (p.K756=), BLM(NM_000057.4):c.2268A>G (p.K756=), BLM(NM_001287248.1):c.1143A>G (p.K381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90766984A>G" "" "likely benign" "" "0000556233" "0" "30" "15" "91312417" "91312417" "subst" "0.000917722" "01943" "BLM_000036" "g.91312417C>A" "" "" "" "BLM(NM_000057.2):c.2362C>A (p.(Leu788Ile)), BLM(NM_001287248.1):c.1237C>A (p.L413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90769187C>A" "" "likely benign" "" "0000556234" "0" "50" "15" "91312417" "91312417" "subst" "0.000917722" "01804" "BLM_000036" "g.91312417C>A" "" "" "" "BLM(NM_000057.2):c.2362C>A (p.(Leu788Ile)), BLM(NM_001287248.1):c.1237C>A (p.L413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90769187C>A" "" "VUS" "" "0000556235" "0" "30" "15" "91312662" "91312662" "subst" "4.06266E-6" "01943" "BLM_000100" "g.91312662A>T" "" "" "" "BLM(NM_001287248.1):c.1282-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90769432A>T" "" "likely benign" "" "0000556236" "0" "90" "15" "91312749" "91312749" "dup" "0" "01943" "BLM_000074" "g.91312749dup" "" "" "" "BLM(NM_000057.2):c.2488dupA (p.T830Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90769519dup" "" "pathogenic" "" "0000556237" "0" "30" "15" "91328184" "91328184" "subst" "8.12308E-6" "01943" "BLM_000101" "g.91328184G>A" "" "" "" "BLM(NM_001287248.1):c.1571G>A (p.R524Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90784954G>A" "" "likely benign" "" "0000556239" "0" "50" "15" "91337448" "91337448" "subst" "2.46427E-5" "01943" "BLM_000103" "g.91337448A>G" "" "" "" "BLM(NM_001287248.1):c.1946A>G (p.Y649C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90794218A>G" "" "VUS" "" "0000556241" "0" "90" "15" "91346951" "91346951" "subst" "2.43904E-5" "02327" "BLM_000105" "g.91346951G>T" "" "" "" "BLM(NM_001287248.1):c.2433+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90803721G>T" "" "pathogenic" "" "0000556242" "0" "30" "15" "91347451" "91347451" "subst" "0.000609528" "01943" "BLM_000106" "g.91347451G>A" "" "" "" "BLM(NM_000057.4):c.3613G>A (p.V1205I), BLM(NM_001287248.1):c.2488G>A (p.V830I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90804221G>A" "" "likely benign" "" "0000556243" "0" "30" "15" "91352443" "91352443" "subst" "0.000117771" "01943" "BLM_000082" "g.91352443G>A" "" "" "" "BLM(NM_000057.4):c.3828G>A (p.A1276=), BLM(NM_001287248.1):c.2703G>A (p.A901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90809213G>A" "" "likely benign" "" "0000556244" "0" "30" "15" "91352464" "91352464" "subst" "0.00124266" "01943" "BLM_000107" "g.91352464G>A" "" "" "" "BLM(NM_000057.2):c.3849G>A (p.(Gln1283=), p.Q1283=), BLM(NM_000057.4):c.3849G>A (p.Q1283=), BLM(NM_001287248.1):c.2724G>A (p.Q908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90809234G>A" "" "likely benign" "" "0000556245" "0" "90" "15" "91352470" "91352470" "subst" "0" "02329" "BLM_000108" "g.91352470C>G" "" "" "" "BLM(NM_000057.4):c.3855C>G (p.Y1285*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90809240C>G" "" "pathogenic" "" "0000556246" "0" "30" "15" "91354481" "91354481" "subst" "0" "02326" "BLM_000109" "g.91354481C>G" "" "" "" "BLM(NM_000057.2):c.3921C>G (p.P1307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90811251C>G" "" "likely benign" "" "0000556248" "0" "30" "15" "91354640" "91354640" "subst" "0.0044394" "01943" "BLM_000086" "g.91354640T>G" "" "" "" "BLM(NM_000057.2):c.4076+4T>G, BLM(NM_000057.4):c.4076+4T>G, BLM(NM_001287248.1):c.2951+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90811410T>G" "" "likely benign" "" "0000578086" "0" "50" "15" "91304245" "91304245" "subst" "0.000137606" "01474" "BLM_000052" "g.91304245C>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs200389141" "0" "" "" "g.90761015C>T" "" "VUS" "" "0000578147" "0" "50" "15" "91304245" "91304245" "subst" "0.000137606" "01474" "BLM_000052" "g.91304245C>T" "" "{PMID:Lhota 2016:26822949}" "" "" "" "Germline" "" "rs200389141" "0" "" "" "g.90761015C>T" "" "VUS" "" "0000598856" "0" "10" "15" "91312823" "91312823" "subst" "0.278424" "02337" "BLM_000111" "g.91312823T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90769593T>C" "" "benign" "" "0000598857" "0" "10" "15" "91354521" "91354521" "subst" "0.0663972" "02337" "BLM_000080" "g.91354521G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90811291G>A" "" "benign" "" "0000598858" "0" "10" "15" "91326099" "91326099" "subst" "0.0558469" "02337" "BLM_000060" "g.91326099C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90782869C>T" "" "benign" "" "0000598859" "0" "30" "15" "91306241" "91306241" "subst" "0.00322625" "02337" "BLM_000028" "g.91306241G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90763011G>A" "" "likely benign" "" "0000598860" "0" "30" "15" "91310214" "91310214" "subst" "0.00186891" "02337" "BLM_000058" "g.91310214A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90766984A>G" "" "likely benign" "" "0000615644" "0" "30" "15" "91292949" "91292949" "subst" "2.84356E-5" "01943" "BLM_000112" "g.91292949A>G" "" "" "" "BLM(NM_001287246.1):c.451A>G (p.I151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90749719A>G" "" "likely benign" "" "0000615645" "0" "30" "15" "91293213" "91293213" "subst" "0.000113865" "01943" "BLM_000022" "g.91293213G>A" "" "" "" "BLM(NM_001287246.1):c.715G>A (p.D239N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90749983G>A" "" "likely benign" "" "0000615646" "0" "30" "15" "91295110" "91295110" "subst" "0.00946977" "01804" "BLM_000047" "g.91295110C>T" "" "" "" "BLM(NM_000057.2):c.893C>T (p.(Thr298Met)), BLM(NM_000057.4):c.893C>T (p.T298M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90751880C>T" "" "likely benign" "" "0000615647" "0" "50" "15" "91298126" "91298126" "subst" "0" "01943" "BLM_000113" "g.91298126A>G" "" "" "" "BLM(NM_001287246.1):c.1045A>G (p.S349G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90754896A>G" "" "VUS" "" "0000615648" "0" "30" "15" "91298167" "91298167" "subst" "7.75282E-5" "01943" "BLM_000114" "g.91298167C>T" "" "" "" "BLM(NM_001287246.1):c.1086C>T (p.D362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90754937C>T" "" "likely benign" "" "0000623341" "0" "30" "15" "91292893" "91292893" "subst" "1.21888E-5" "01943" "BLM_000044" "g.91292893G>A" "" "" "" "BLM(NM_000057.4):c.395G>A (p.R132Q), BLM(NM_001287246.1):c.395G>A (p.R132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90749663G>A" "" "likely benign" "" "0000623342" "0" "30" "15" "91303908" "91303908" "subst" "4.06511E-5" "01943" "BLM_000115" "g.91303908T>C" "" "" "" "BLM(NM_001287248.1):c.180T>C (p.L60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90760678T>C" "" "likely benign" "" "0000623343" "0" "30" "15" "91304484" "91304484" "subst" "2.63327E-5" "01943" "BLM_000116" "g.91304484T>C" "" "" "" "BLM(NM_001287248.1):c.756T>C (p.T252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90761254T>C" "" "likely benign" "" "0000623344" "0" "30" "15" "91333953" "91333953" "subst" "6.90467E-5" "01943" "BLM_000117" "g.91333953C>G" "" "" "" "BLM(NM_001287248.1):c.1773C>G (p.L591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90790723C>G" "" "likely benign" "" "0000649199" "1" "70" "15" "91304245" "91304245" "subst" "0.000137606" "03575" "BLM_000052" "g.91304245C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200389141}" "Germline" "" "rs200389141" "0" "" "" "g.90761015C>T" "" "likely pathogenic" "" "0000649200" "1" "50" "15" "91310239" "91310239" "subst" "0.000336673" "03575" "BLM_000034" "g.91310239G>A" "6/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs191789336}" "Germline" "" "rs191789336" "0" "" "" "g.90767009G>A" "" "VUS" "" "0000649201" "1" "50" "15" "91312426" "91312426" "subst" "0.00012589" "03575" "BLM_000013" "g.91312426C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs55880859}" "Germline" "" "rs55880859" "0" "" "" "g.90769196C>T" "" "VUS" "" "0000649202" "1" "70" "15" "91337541" "91337541" "subst" "8.1978E-6" "03575" "BLM_000119" "g.91337541G>C" "3/2774 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs367543029}" "Germline" "" "rs367543029" "0" "" "" "g.90794311G>C" "" "likely pathogenic" "" "0000649203" "1" "70" "15" "91337589" "91337589" "del" "4.69903E-6" "03575" "BLM_000120" "g.91337589del" "8/2709 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs587779886}" "Germline" "" "rs587779886" "0" "" "" "g.90794359del" "" "likely pathogenic" "" "0000653012" "1" "50" "15" "91292703" "91292703" "subst" "0.000109727" "03575" "BLM_000118" "g.91292703G>A" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs746195311}" "Germline" "" "rs746195311" "0" "" "" "g.90749473G>A" "" "VUS" "" "0000657702" "0" "90" "15" "91328183" "91328183" "subst" "6.09286E-5" "01943" "BLM_000061" "g.91328183C>T" "" "" "" "BLM(NM_000057.2):c.2695C>T (p.R899*), BLM(NM_000057.4):c.2695C>T (p.R899*), BLM(NM_001287248.1):c.1570C>T (p.R524*), BLM(NM_001287248.2):c.1570C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90784953C>T" "" "pathogenic" "" "0000657703" "0" "90" "15" "91346951" "91346951" "subst" "2.43904E-5" "01943" "BLM_000105" "g.91346951G>T" "" "" "" "BLM(NM_001287248.1):c.2433+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90803721G>T" "" "pathogenic" "" "0000657704" "0" "30" "15" "91352464" "91352464" "subst" "0.00124266" "02326" "BLM_000107" "g.91352464G>A" "" "" "" "BLM(NM_000057.2):c.3849G>A (p.(Gln1283=), p.Q1283=), BLM(NM_000057.4):c.3849G>A (p.Q1283=), BLM(NM_001287248.1):c.2724G>A (p.Q908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90809234G>A" "" "likely benign" "" "0000665805" "0" "70" "15" "91304245" "91304245" "subst" "0.000137606" "01164" "BLM_000052" "g.91304245C>T" "" "" "" "" "ACMG grading: PM1,PM2,PM4; juvenile Maculadystrophy, age 28y; Lotery et al. 2000. Invest Ophthalmol Vis Sci 41: 1291; Lin et al. 2015. Mol Med Rep 12: 1584; Huang et al. 2015. Int J Mol Med 36: 1111" "Germline" "" "rs200389141" "0" "" "" "g.90761015C>T" "" "likely pathogenic" "ACMG" "0000666163" "0" "70" "15" "91328183" "91328183" "subst" "6.09286E-5" "03308" "BLM_000061" "g.91328183C>T" "" "" "" "" "" "Germline" "yes" "rs587779884" "0" "" "" "g.90784953C>T" "" "pathogenic" "" "0000666164" "0" "50" "15" "91358475" "91358475" "subst" "3.65485E-5" "03308" "BLM_000121" "g.91358475G>A" "" "" "" "" "" "Germline" "?" "rs557057587" "0" "" "" "g.90815245G>A" "" "VUS" "" "0000666165" "0" "50" "15" "91346819" "91346819" "subst" "0.000105627" "03308" "BLM_000007" "g.91346819G>A" "" "" "" "" "" "Germline" "?" "rs140387675" "0" "" "" "g.90803589G>A" "127499" "VUS" "" "0000674720" "21" "90" "15" "91337139" "91337139" "subst" "0" "00585" "BLM_000122" "g.91337139A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90793909A>G" "" "pathogenic" "" "0000674721" "11" "90" "15" "91346771" "91346771" "subst" "0" "00585" "BLM_000123" "g.91346771C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90803541C>T" "" "pathogenic" "" "0000680342" "0" "30" "15" "91292963" "91292963" "subst" "0.000316875" "02326" "BLM_000045" "g.91292963T>C" "" "" "" "BLM(NM_000057.2):c.465T>C (p.(Asp155=), p.D155=), BLM(NM_001287246.1):c.465T>C (p.D155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680343" "0" "90" "15" "91304245" "91304245" "subst" "0.000137606" "02329" "BLM_000052" "g.91304245C>T" "" "" "" "BLM(NM_000057.2):c.1642C>T (p.Q548*), BLM(NM_000057.4):c.1642C>T (p.Q548*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691913" "0" "10" "15" "91303411" "91303411" "subst" "0.0082123" "02329" "BLM_000124" "g.91303411T>C" "" "" "" "BLM(NM_000057.4):c.1122T>C (p.H374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691914" "0" "30" "15" "91304204" "91304204" "subst" "0.000301222" "01943" "BLM_000125" "g.91304204A>G" "" "" "" "BLM(NM_001287248.1):c.476A>G (p.N159S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691915" "0" "50" "15" "91337488" "91337490" "del" "0" "02325" "BLM_000126" "g.91337488_91337490del" "" "" "" "BLM(NM_000057.4):c.3111_3113delGAG (p.R1038del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725383" "0" "30" "15" "91260687" "91260687" "subst" "0" "02326" "BLM_000127" "g.91260687G>C" "" "" "" "BLM(NM_001287248.2):c.-1296+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725384" "0" "50" "15" "91303208" "91303208" "subst" "0" "02329" "BLM_000049" "g.91303208C>A" "" "" "" "BLM(NM_001287248.2):c.-204-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725385" "0" "90" "15" "91310156" "91310157" "ins" "0.000200002" "02329" "BLM_000099" "g.91310156_91310157insA" "" "" "" "BLM(NM_001287248.2):c.1085_1086insA (p.T363Dfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000733926" "0" "70" "15" "91346808" "91346808" "subst" "1.21874E-5" "04011" "BLM_000131" "g.91346808G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733963" "0" "70" "15" "91333894" "91333894" "subst" "0.00021119" "04011" "BLM_000130" "g.91333894A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734007" "0" "70" "15" "91292676" "91292676" "subst" "0.000248123" "04011" "BLM_000128" "g.91292676T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734083" "0" "70" "15" "91292818" "91292818" "dup" "0" "04011" "BLM_000129" "g.91292818dup" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "319dpuT" "" "Germline" "" "" "0" "" "" "g.90749588dup" "" "VUS" "" "0000734136" "0" "70" "15" "91310239" "91310239" "subst" "0.000336673" "04011" "BLM_000034" "g.91310239G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734161" "0" "70" "15" "91292676" "91292676" "subst" "0.000248123" "04011" "BLM_000128" "g.91292676T>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734442" "0" "70" "15" "91304365" "91304365" "subst" "0" "04011" "BLM_000132" "g.91304365A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735459" "0" "70" "15" "91310239" "91310239" "subst" "0.000336673" "04011" "BLM_000034" "g.91310239G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735535" "0" "70" "15" "91346864" "91346864" "subst" "0" "04011" "BLM_000133" "g.91346864G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000807020" "0" "30" "15" "91304070" "91304070" "subst" "0.000187562" "01943" "BLM_000134" "g.91304070G>A" "" "" "" "BLM(NM_001287248.1):c.342G>A (p.R114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807021" "0" "30" "15" "91354439" "91354439" "subst" "0.000304593" "01943" "BLM_000135" "g.91354439A>G" "" "" "" "BLM(NM_001287248.1):c.2754A>G (p.E918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000845045" "0" "90" "15" "91290722" "91290722" "dup" "0" "00006" "BLM_000136" "g.91290722dup" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "98+2dupT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.90747492dup" "" "pathogenic" "" "0000845049" "0" "90" "15" "91290723" "91290726" "del" "0" "00006" "BLM_000137" "g.91290723_91290726del" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "98+3_98+6delAAGT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.90747493_90747496del" "" "pathogenic" "" "0000854249" "0" "50" "15" "91312406" "91312406" "subst" "1.21823E-5" "01804" "BLM_000139" "g.91312406A>G" "" "" "" "BLM(NM_000057.2):c.2351A>G (p.(Tyr784Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854250" "0" "90" "15" "91341470" "91341470" "del" "0" "02326" "BLM_000140" "g.91341470del" "" "" "" "BLM(NM_000057.2):c.3261delT (p.F1087Lfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864200" "0" "90" "15" "91292796" "91292797" "del" "0" "01943" "BLM_000138" "g.91292796_91292797del" "" "" "" "BLM(NM_001287246.1):c.298_299delCA (p.Q100Efs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864201" "0" "50" "15" "91352464" "91352464" "subst" "0.00124266" "01804" "BLM_000107" "g.91352464G>A" "" "" "" "BLM(NM_000057.2):c.3849G>A (p.(Gln1283=), p.Q1283=), BLM(NM_000057.4):c.3849G>A (p.Q1283=), BLM(NM_001287248.1):c.2724G>A (p.Q908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867909" "0" "30" "15" "91347567" "91347567" "subst" "2.03176E-5" "03779" "BLM_000141" "g.91347567C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs747293738" "0" "" "" "" "" "likely benign" "" "0000873682" "0" "70" "15" "91290675" "91290678" "del" "0" "00103" "BLM_000142" "g.91290675_91290678del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90747445_90747448del" "" "likely pathogenic" "ACMG" "0000873684" "0" "90" "15" "91306246" "91306246" "subst" "4.07618E-5" "00103" "BLM_000071" "g.91306246C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000892432" "0" "30" "15" "91292963" "91292963" "subst" "0.000316875" "01804" "BLM_000045" "g.91292963T>C" "" "" "" "BLM(NM_000057.2):c.465T>C (p.(Asp155=), p.D155=), BLM(NM_001287246.1):c.465T>C (p.D155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892433" "0" "30" "15" "91303813" "91303813" "del" "0" "02326" "BLM_000143" "g.91303813del" "" "" "" "BLM(NM_000057.2):c.1221-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892434" "0" "30" "15" "91310214" "91310214" "subst" "0.00186891" "02329" "BLM_000058" "g.91310214A>G" "" "" "" "BLM(NM_000057.2):c.2268A>G (p.K756=), BLM(NM_000057.4):c.2268A>G (p.K756=), BLM(NM_001287248.1):c.1143A>G (p.K381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892435" "0" "90" "15" "91312741" "91312741" "subst" "1.21837E-5" "02327" "BLM_000144" "g.91312741T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892436" "0" "90" "15" "91328183" "91328183" "subst" "6.09286E-5" "02325" "BLM_000061" "g.91328183C>T" "" "" "" "BLM(NM_000057.2):c.2695C>T (p.R899*), BLM(NM_000057.4):c.2695C>T (p.R899*), BLM(NM_001287248.1):c.1570C>T (p.R524*), BLM(NM_001287248.2):c.1570C>T ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892437" "0" "90" "15" "91337589" "91337589" "del" "4.69903E-6" "02327" "BLM_000120" "g.91337589del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892438" "0" "30" "15" "91352413" "91352413" "subst" "0.000540198" "02326" "BLM_000145" "g.91352413T>G" "" "" "" "BLM(NM_000057.2):c.3798T>G (p.V1266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892439" "0" "50" "15" "91352487" "91352487" "subst" "1.21824E-5" "01804" "BLM_000146" "g.91352487C>T" "" "" "" "BLM(NM_000057.2):c.3872C>T (p.(Pro1291Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914426" "0" "30" "15" "91308570" "91308570" "subst" "0.00166112" "02329" "BLM_000030" "g.91308570C>T" "" "" "" "BLM(NM_000057.2):c.2119C>T (p.(Pro707Ser), p.P707S), BLM(NM_000057.4):c.2119C>T (p.P707S), BLM(NM_001287248.1):c.994C>T (p.P332S), BLM(NM_00128724...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914427" "0" "30" "15" "91328261" "91328261" "subst" "0" "02326" "BLM_000147" "g.91328261T>G" "" "" "" "BLM(NM_000057.2):c.2773T>G (p.S925A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914428" "0" "30" "15" "91346738" "91346738" "subst" "0.000784432" "02326" "BLM_000148" "g.91346738A>G" "" "" "" "BLM(NM_000057.2):c.3359-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914429" "0" "30" "15" "91352505" "91352505" "subst" "8.12236E-6" "02326" "BLM_000149" "g.91352505T>C" "" "" "" "BLM(NM_000057.2):c.3874+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921523" "11" "90" "15" "91310153" "91310158" "delins" "0" "03544" "BLM_000072" "g.91310153_91310158delinsTAGATTC" "" "{PMID:Wayhelova 2023:37052241}" "" "" "detected in compound heterozygosity with c.1642C>T" "Germline" "" "" "0" "" "" "g.90766923_90766928delinsTAGATTC" "" "pathogenic (recessive)" "ACMG" "0000921536" "21" "90" "15" "91304245" "91304245" "subst" "0.000137606" "03544" "BLM_000052" "g.91304245C>T" "" "{PMID:Wayhelova 2023:37052241}" "" "" "" "Germline" "" "" "0" "" "" "g.90761015C>T" "" "pathogenic (recessive)" "" "0000926090" "0" "30" "15" "91346764" "91346764" "subst" "0" "02326" "BLM_000150" "g.91346764A>G" "" "" "" "BLM(NM_000057.2):c.3372A>G (p.A1124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930477" "0" "30" "15" "91290633" "91290633" "subst" "0.00113807" "02326" "BLM_000038" "g.91290633T>C" "" "" "" "BLM(NM_000057.2):c.11T>C (p.(Val4Ala), p.V4A), BLM(NM_001287246.1):c.11T>C (p.V4A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930478" "0" "30" "15" "91308570" "91308570" "subst" "0.00166112" "01804" "BLM_000030" "g.91308570C>T" "" "" "" "BLM(NM_000057.2):c.2119C>T (p.(Pro707Ser), p.P707S), BLM(NM_000057.4):c.2119C>T (p.P707S), BLM(NM_001287248.1):c.994C>T (p.P332S), BLM(NM_00128724...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000943880" "0" "90" "15" "91328183" "91328183" "subst" "6.09286E-5" "03779" "BLM_000061" "g.91328183C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs587779884" "0" "" "" "" "" "pathogenic" "" "0000950487" "0" "30" "15" "91352464" "91352464" "subst" "0.00124266" "02329" "BLM_000107" "g.91352464G>A" "" "" "" "BLM(NM_000057.2):c.3849G>A (p.(Gln1283=), p.Q1283=), BLM(NM_000057.4):c.3849G>A (p.Q1283=), BLM(NM_001287248.1):c.2724G>A (p.Q908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000952205" "0" "90" "15" "91341567" "91341567" "subst" "4.07123E-6" "04599" "BLM_000006" "g.91341567G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.90798337G>A" "" "pathogenic" "ACMG" "0000968052" "0" "50" "15" "91292684" "91292684" "subst" "8.13392E-6" "02329" "BLM_000092" "g.91292684T>G" "" "" "" "BLM(NM_000057.2):c.186T>G (p.(Asn62Lys)), BLM(NM_000057.4):c.186T>G (p.N62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981521" "0" "50" "15" "91292968" "91292968" "subst" "2.84393E-5" "02329" "BLM_000151" "g.91292968T>C" "" "" "" "BLM(NM_000057.4):c.470T>C (p.M157T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981522" "0" "30" "15" "91298032" "91298032" "dup" "0" "01804" "BLM_000152" "g.91298032dup" "" "" "" "BLM(NM_000057.4):c.960-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001802" "0" "30" "15" "91292929" "91292929" "subst" "0" "01804" "BLM_000153" "g.91292929C>T" "" "" "" "BLM(NM_000057.2):c.431C>T (p.(Ser144Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001803" "0" "50" "15" "91310183" "91310183" "subst" "4.07488E-5" "01804" "BLM_000154" "g.91310183C>T" "" "" "" "BLM(NM_000057.2):c.2237C>T (p.(Ala746Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001804" "0" "70" "15" "91310253" "91310253" "subst" "0" "02327" "BLM_000155" "g.91310253G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001805" "0" "50" "15" "91354530" "91354530" "subst" "2.0307E-5" "01804" "BLM_000156" "g.91354530C>T" "" "" "" "BLM(NM_001287246.1):c.3970C>T (p.(His1324Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015274" "0" "30" "15" "91292676" "91292676" "subst" "0.000248123" "02329" "BLM_000128" "g.91292676T>A" "" "" "" "BLM(NM_000057.4):c.178T>A (p.L60I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016703" "0" "90" "15" "91304082" "91304083" "del" "0" "04749" "BLM_000157" "g.91304082_91304083del" "" "Yuen (unpublished)" "" "" "" "Germline" "" "" "0" "" "" "g.90760852_90760853del" "" "pathogenic" "" "0001026549" "0" "30" "15" "91347451" "91347451" "subst" "0.000609528" "02329" "BLM_000106" "g.91347451G>A" "" "" "" "BLM(NM_000057.4):c.3613G>A (p.V1205I), BLM(NM_001287248.1):c.2488G>A (p.V830I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040676" "0" "30" "15" "91273100" "91273101" "del" "0" "01804" "BLM_000158" "g.91273100_91273101del" "" "" "" "BLM(NM_000057.4):c.-5+12429_-5+12430del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040677" "0" "30" "15" "91303204" "91303204" "subst" "0" "01804" "BLM_000159" "g.91303204G>T" "" "" "" "BLM(NM_001287248.2):c.-204-7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040678" "0" "90" "15" "91306246" "91306246" "subst" "4.07618E-5" "01804" "BLM_000071" "g.91306246C>T" "" "" "" "BLM(NM_000057.4):c.1933C>T (p.(Gln645Ter)), BLM(NM_001287248.1):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040679" "0" "50" "15" "91312388" "91312388" "subst" "0.000158374" "01804" "BLM_000160" "g.91312388C>G" "" "" "" "BLM(NM_000057.4):c.2333C>G (p.(Ser778Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040680" "0" "50" "15" "91334069" "91334069" "subst" "8.13173E-6" "01804" "BLM_000064" "g.91334069T>C" "" "" "" "BLM(NM_000057.4):c.3014T>C (p.(Ile1005Thr), p.I1005T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040681" "0" "50" "15" "91346819" "91346819" "subst" "0.000105627" "01804" "BLM_000007" "g.91346819G>A" "" "" "" "BLM(NM_000057.4):c.3427G>A (p.(Glu1143Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046523" "0" "10" "15" "91304325" "91304325" "subst" "0.00643926" "02327" "BLM_000053" "g.91304325A>G" "" "" "" "BLM(NM_000057.4):c.1722A>G (p.L574=), BLM(NM_001287248.1):c.597A>G (p.L199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001047501" "3" "90" "15" "91326139" "91326139" "subst" "0" "03544" "BLM_000161" "g.91326139G>A" "" "" "" "" "" "Germline" "-" "rs367543039" "0" "" "" "g.90782909G>A" "{CV:42072}" "pathogenic (recessive)" "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 BLM ## Count = 231 "{{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}}" "0000000556" "00000040" "50" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Ser106*)" "" "0000148671" "00000040" "00" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Val4Ala)" "" "0000148672" "00000040" "00" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Val4Ala)" "" "0000148673" "00000040" "00" "191" "0" "191" "0" "c.191A>T" "r.(?)" "p.(Asp64Val)" "" "0000148674" "00000040" "00" "254" "0" "254" "0" "c.254G>C" "r.(?)" "p.(Arg85Thr)" "" "0000148675" "00000040" "00" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Asn92Asp)" "" "0000148676" "00000040" "00" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Ala135Ser)" "" "0000148677" "00000040" "00" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(Lys137Arg)" "" "0000148678" "00000040" "00" "419" "0" "419" "0" "c.419A>G" "r.(?)" "p.(Glu140Gly)" "" "0000148679" "00000040" "00" "550" "0" "550" "0" "c.550C>G" "r.(?)" "p.(Gln184Glu)" "" "0000148680" "00000040" "00" "617" "0" "617" "0" "c.617C>A" "r.(?)" "p.(Thr206Asn)" "" "0000148681" "00000040" "00" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Asp239Asn)" "" "0000148682" "00000040" "00" "811" "0" "811" "0" "c.811delAAG" "" "" "" "0000148683" "00000040" "00" "863" "0" "863" "0" "c.863G>A" "r.(?)" "p.(Cys288Tyr)" "" "0000148684" "00000040" "00" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Lys323Arg)" "" "0000148685" "00000040" "00" "1006" "0" "1006" "0" "c.1006A>G" "r.(?)" "p.(Ser336Gly)" "" "0000148686" "00000040" "00" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Ile)" "" "0000148687" "00000040" "00" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643His)" "" "0000148688" "00000040" "00" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643His)" "" "0000148689" "00000040" "00" "1934" "0" "1934" "0" "c.1934A>G" "r.(?)" "p.(Gln645Arg)" "" "0000148690" "00000040" "00" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Pro707Ser)" "" "0000148691" "00000040" "00" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Val721Ile)" "" "0000148692" "00000040" "00" "2207" "0" "2207" "0" "c.2207delATC" "" "" "" "0000148695" "00000040" "00" "2263" "0" "2263" "0" "c.2263A>G" "r.(?)" "p.(Lys755Glu)" "" "0000148696" "00000040" "00" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Val765Ile)" "" "0000148697" "00000040" "00" "2321" "0" "2321" "0" "c.2321A>G" "r.(?)" "p.(Asn774Ser)" "" "0000148698" "00000040" "00" "2362" "0" "2362" "0" "c.2362C>A" "r.(?)" "p.(Leu788Ile)" "" "0000148699" "00000040" "00" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Cys)" "" "0000148700" "00000040" "00" "2432" "0" "2432" "0" "c.2432A>G" "r.(?)" "p.(Tyr811Cys)" "" "0000148701" "00000040" "00" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Arg818His)" "" "0000148702" "00000040" "00" "2474" "0" "2474" "0" "c.2474C>T" "r.(?)" "p.(Pro825Leu)" "" "0000148704" "00000040" "00" "2638" "0" "2638" "0" "c.2638G>C" "r.(?)" "p.(Glu880Gln)" "" "0000148705" "00000040" "00" "2843" "0" "2843" "0" "c.2843C>A" "r.(?)" "p.(Ala948Glu)" "" "0000148706" "00000040" "00" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Ala964Val)" "" "0000148707" "00000040" "00" "3011" "0" "3011" "0" "c.3011delTT" "" "" "" "0000148708" "00000040" "00" "3128" "0" "3128" "0" "c.3128C>A" "r.(?)" "p.(Ala1043Asp)" "" "0000148709" "00000040" "00" "3358" "0" "3358" "0" "c.3358G>A" "r.(?)" "p.(Gly1120Arg)" "" "0000148710" "00000040" "00" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Glu1143Lys)" "" "0000148711" "00000040" "00" "3592" "0" "3592" "0" "c.3592G>A" "r.(?)" "p.(Val1198Met)" "" "0000148712" "00000040" "00" "3625" "0" "3625" "0" "c.3625T>A" "r.(?)" "p.(Ser1209Thr)" "" "0000148713" "00000040" "00" "3949" "0" "3949" "0" "c.3949G>A" "r.(?)" "p.(Glu1317Lys)" "" "0000148714" "00000040" "00" "3991" "0" "3991" "0" "c.3991A>G" "r.(?)" "p.(Arg1331Gly)" "" "0000148715" "00000040" "00" "4177" "0" "4177" "0" "c.4177A>G" "r.(?)" "p.(Asn1393Asp)" "" "0000149155" "00000040" "00" "3128" "0" "3128" "0" "c.3128C>A" "r.(?)" "p.(Ala1043Asp)" "" "0000249915" "00000040" "10" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(Lys137Arg)" "" "0000249955" "00000040" "10" "1722" "0" "1722" "0" "c.1722A>G" "r.(?)" "p.(Leu574=)" "" "0000250506" "00000040" "90" "3681" "0" "3681" "0" "c.3681del" "r.(?)" "p.(Lys1227AsnfsTer52)" "" "0000253139" "00000040" "10" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(Lys137Arg)" "" "0000254046" "00000040" "30" "1722" "0" "1722" "0" "c.1722A>G" "r.(?)" "p.(Leu574=)" "" "0000254612" "00000040" "30" "2268" "0" "2268" "0" "c.2268A>G" "r.(?)" "p.(Lys756=)" "" "0000256164" "00000040" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Lys323Arg)" "" "0000256343" "00000040" "50" "4015" "0" "4015" "0" "c.4015A>G" "r.(?)" "p.(Met1339Val)" "" "0000259272" "00000040" "10" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Pro868Leu)" "" "0000259590" "00000040" "30" "3044" "0" "3044" "0" "c.3044C>T" "r.(?)" "p.(Thr1015Ile)" "" "0000260380" "00000040" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000260381" "00000040" "30" "1771" "0" "1771" "0" "c.1771C>G" "r.(?)" "p.(Arg591Gly)" "" "0000260382" "00000040" "30" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643His)" "" "0000260383" "00000040" "30" "2720" "0" "2720" "0" "c.2720C>T" "r.(?)" "p.(Thr907Met)" "" "0000260384" "00000040" "50" "3014" "0" "3014" "0" "c.3014T>C" "r.(?)" "p.(Ile1005Thr)" "" "0000260385" "00000040" "30" "3828" "0" "3828" "0" "c.3828G>A" "r.(?)" "p.(Ala1276=)" "" "0000260386" "00000040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132Gln)" "" "0000260387" "00000040" "10" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Pro1320=)" "" "0000260388" "00000040" "30" "4076" "4" "4076" "4" "c.4076+4T>G" "r.spl?" "p.?" "" "0000260389" "00000040" "30" "4112" "0" "4112" "0" "c.4112C>T" "r.(?)" "p.(Thr1371Met)" "" "0000260390" "00000040" "30" "4186" "0" "4186" "0" "c.4186T>C" "r.(?)" "p.(Leu1396=)" "" "0000260391" "00000040" "10" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Met)" "" "0000261470" "00000040" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000261471" "00000040" "10" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643His)" "" "0000261472" "00000040" "50" "1980" "0" "1980" "0" "c.1980T>A" "r.(?)" "p.(His660Gln)" "" "0000261473" "00000040" "30" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Pro868Leu)" "" "0000261474" "00000040" "30" "4077" "-5" "4077" "-5" "c.4077-5T>C" "r.spl?" "p.?" "" "0000261475" "00000040" "30" "3475" "0" "3475" "0" "c.3475T>C" "r.(?)" "p.(Leu1159=)" "" "0000261476" "00000040" "30" "4076" "4" "4076" "4" "c.4076+4T>G" "r.spl?" "p.?" "" "0000261477" "00000040" "10" "4077" "-10" "4077" "-10" "c.4077-10C>T" "r.(=)" "p.(=)" "" "0000263707" "00000040" "30" "1044" "0" "1044" "0" "c.1044G>A" "r.(?)" "p.(Met348Ile)" "" "0000263708" "00000040" "30" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Val4Ala)" "" "0000263709" "00000040" "50" "2872" "0" "2872" "0" "c.2872G>A" "r.(?)" "p.(Val958Met)" "" "0000263710" "00000040" "30" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643His)" "" "0000263712" "00000040" "50" "3976" "0" "3976" "0" "c.3976T>A" "r.(?)" "p.(Phe1326Ile)" "" "0000263713" "00000040" "30" "4077" "-5" "4077" "-5" "c.4077-5T>C" "r.spl?" "p.?" "" "0000263714" "00000040" "50" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Trp)" "" "0000263715" "00000040" "10" "3960" "0" "3960" "0" "c.3960C>T" "r.(?)" "p.(Pro1320=)" "" "0000263716" "00000040" "50" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Cys)" "" "0000263717" "00000040" "30" "465" "0" "465" "0" "c.465T>C" "r.(?)" "p.(Asp155=)" "" "0000263718" "00000040" "70" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548Ter)" "" "0000263719" "00000040" "50" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Leu401Phe)" "" "0000263720" "00000040" "30" "808" "0" "808" "0" "c.808G>A" "r.(?)" "p.(Glu270Lys)" "" "0000263721" "00000040" "30" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Lys653=)" "" "0000324319" "00000040" "50" "1553" "0" "1553" "0" "c.1553C>G" "r.(?)" "p.(Ser518Cys)" "" "0000324321" "00000040" "50" "4016" "0" "4016" "0" "c.4016T>C" "r.(?)" "p.(Met1339Thr)" "" "0000338899" "00000040" "70" "98" "6" "98" "6" "c.98+6T>G" "r.(=)" "p.(=)" "" "0000338900" "00000040" "90" "2407" "-1" "2407" "-1" "c.2407-1G>T" "r.spl?" "p.?" "" "0000338901" "00000040" "10" "2555" "0" "2555" "0" "c.2555T>C" "r.(?)" "p.(Val852Ala)" "" "0000339203" "00000040" "10" "3102" "0" "3102" "0" "c.3102G>A" "r.(?)" "p.(Thr1034=)" "" "0000339204" "00000040" "10" "3945" "0" "3945" "0" "c.3945C>T" "r.(?)" "p.(Leu1315=)" "" "0000340563" "00000040" "10" "3531" "0" "3531" "0" "c.3531C>A" "r.(?)" "p.(Ala1177=)" "" "0000343200" "00000040" "10" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643His)" "" "0000343465" "00000040" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000344894" "00000040" "90" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548Ter)" "" "0000344925" "00000040" "90" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Gln645Ter)" "" "0000348560" "00000040" "30" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Pro707Ser)" "" "0000348599" "00000040" "10" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Pro868Leu)" "" "0000348677" "00000040" "30" "3625" "0" "3625" "0" "c.3625T>A" "r.(?)" "p.(Ser1209Thr)" "" "0000349801" "00000040" "90" "1284" "0" "1284" "0" "c.1284G>A" "r.(?)" "p.(Trp428Ter)" "" "0000350275" "00000040" "10" "3961" "0" "3961" "0" "c.3961G>A" "r.(?)" "p.(Val1321Ile)" "" "0000350695" "00000040" "50" "2872" "0" "2872" "0" "c.2872G>A" "r.(?)" "p.(Val958Met)" "" "0000500107" "00000040" "90" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548*)" "" "0000556215" "00000040" "50" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Val4Ala)" "" "0000556216" "00000040" "50" "61" "0" "61" "0" "c.61C>T" "r.(?)" "p.(Leu21Phe)" "" "0000556217" "00000040" "30" "186" "0" "186" "0" "c.186T>G" "r.(?)" "p.(Asn62Lys)" "" "0000556218" "00000040" "30" "254" "0" "254" "0" "c.254G>C" "r.(?)" "p.(Arg85Thr)" "" "0000556219" "00000040" "30" "480" "0" "480" "0" "c.480T>C" "r.(?)" "p.(Phe160=)" "" "0000556220" "00000040" "30" "777" "0" "777" "0" "c.777A>C" "r.(?)" "p.(Lys259Asn)" "" "0000556221" "00000040" "30" "1077" "0" "1077" "0" "c.1077A>G" "r.(?)" "p.(Thr359=)" "" "0000556222" "00000040" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0000556225" "00000040" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Ile)" "" "0000556227" "00000040" "90" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Gln645Ter)" "" "0000556228" "00000040" "30" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Pro707Ser)" "" "0000556229" "00000040" "30" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Pro707Ser)" "" "0000556230" "00000040" "30" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Pro707Ser)" "" "0000556232" "00000040" "30" "2268" "0" "2268" "0" "c.2268A>G" "r.(?)" "p.(Lys756=)" "" "0000556233" "00000040" "30" "2362" "0" "2362" "0" "c.2362C>A" "r.(?)" "p.(Leu788Ile)" "" "0000556234" "00000040" "50" "2362" "0" "2362" "0" "c.2362C>A" "r.(?)" "p.(Leu788Ile)" "" "0000556235" "00000040" "30" "2407" "-6" "2407" "-6" "c.2407-6A>T" "r.(=)" "p.(=)" "" "0000556236" "00000040" "90" "2488" "0" "2488" "0" "c.2488dup" "r.(?)" "p.(Thr830AsnfsTer5)" "" "0000556237" "00000040" "30" "2696" "0" "2696" "0" "c.2696G>A" "r.(?)" "p.(Arg899Gln)" "" "0000556239" "00000040" "50" "3071" "0" "3071" "0" "c.3071A>G" "r.(?)" "p.(Tyr1024Cys)" "" "0000556241" "00000040" "90" "3558" "1" "3558" "1" "c.3558+1G>T" "r.spl?" "p.?" "" "0000556242" "00000040" "30" "3613" "0" "3613" "0" "c.3613G>A" "r.(?)" "p.(Val1205Ile)" "" "0000556243" "00000040" "30" "3828" "0" "3828" "0" "c.3828G>A" "r.(?)" "p.(Ala1276=)" "" "0000556244" "00000040" "30" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Gln1283=)" "" "0000556245" "00000040" "90" "3855" "0" "3855" "0" "c.3855C>G" "r.(?)" "p.(Tyr1285Ter)" "" "0000556246" "00000040" "30" "3921" "0" "3921" "0" "c.3921C>G" "r.(?)" "p.(Pro1307=)" "" "0000556248" "00000040" "30" "4076" "4" "4076" "4" "c.4076+4T>G" "r.spl?" "p.?" "" "0000578086" "00000040" "00" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548*)" "" "0000578147" "00000040" "00" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548*)" "" "0000598856" "00000040" "10" "2555" "7" "2555" "7" "c.2555+7T>C" "r.(?)" "p.(=)" "12i" "0000598857" "00000040" "10" "3961" "0" "3961" "0" "c.3961G>A" "r.(?)" "p.(Val1321Ile)" "21" "0000598858" "00000040" "10" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Pro868Leu)" "13" "0000598859" "00000040" "30" "1928" "0" "1928" "0" "c.1928G>A" "r.(?)" "p.(Arg643His)" "8" "0000598860" "00000040" "30" "2268" "0" "2268" "0" "c.2268A>G" "r.(?)" "p.(Lys756=)" "10" "0000615644" "00000040" "30" "451" "0" "451" "0" "c.451A>G" "r.(?)" "p.(Ile151Val)" "" "0000615645" "00000040" "30" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Asp239Asn)" "" "0000615646" "00000040" "30" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Thr298Met)" "" "0000615647" "00000040" "50" "1045" "0" "1045" "0" "c.1045A>G" "r.(?)" "p.(Ser349Gly)" "" "0000615648" "00000040" "30" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(Asp362=)" "" "0000623341" "00000040" "30" "395" "0" "395" "0" "c.395G>A" "r.(?)" "p.(Arg132Gln)" "" "0000623342" "00000040" "30" "1305" "0" "1305" "0" "c.1305T>C" "r.(?)" "p.(Leu435=)" "" "0000623343" "00000040" "30" "1881" "0" "1881" "0" "c.1881T>C" "r.(?)" "p.(Thr627=)" "" "0000623344" "00000040" "30" "2898" "0" "2898" "0" "c.2898C>G" "r.(?)" "p.(Leu966=)" "" "0000649199" "00000040" "70" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548*)" "" "0000649200" "00000040" "50" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Val765Ile)" "" "0000649201" "00000040" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Cys)" "" "0000649202" "00000040" "70" "3164" "0" "3164" "0" "c.3164G>C" "r.(?)" "p.(Cys1055Ser)" "" "0000649203" "00000040" "70" "3210" "2" "3210" "2" "c.3210+2del" "r.spl?" "p.?" "" "0000653012" "00000040" "50" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Glu69Lys)" "" "0000657702" "00000040" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000657703" "00000040" "90" "3558" "1" "3558" "1" "c.3558+1G>T" "r.spl?" "p.?" "" "0000657704" "00000040" "30" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Gln1283=)" "" "0000665805" "00000040" "70" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548*)" "" "0000666163" "00000040" "70" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899*)" "" "0000666164" "00000040" "50" "4220" "0" "4220" "0" "c.4220G>A" "r.(?)" "p.(Arg1407Lys)" "" "0000666165" "00000040" "50" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Glu1143Lys)" "" "0000674720" "00000040" "90" "3020" "-258" "3020" "-258" "c.3020-258A>G" "r.[3019_3020ins3020-414_3020-259,3019_3020ins3020-424_3020-259]" "p.[Met1007fs*50,Met1007fs*30]" "" "0000674721" "00000040" "90" "3379" "0" "3379" "0" "c.3379C>T" "r.(?)" "p.(Gln1127*)" "18" "0000680342" "00000040" "30" "465" "0" "465" "0" "c.465T>C" "r.(?)" "p.(Asp155=)" "" "0000680343" "00000040" "90" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548Ter)" "" "0000691913" "00000040" "10" "1122" "0" "1122" "0" "c.1122T>C" "r.(?)" "p.(His374=)" "" "0000691914" "00000040" "30" "1601" "0" "1601" "0" "c.1601A>G" "r.(?)" "p.(Asn534Ser)" "" "0000691915" "00000040" "50" "3111" "0" "3113" "0" "c.3111_3113del" "r.(?)" "p.(Arg1038del)" "" "0000725383" "00000040" "30" "-5" "16" "-5" "16" "c.-5+16G>C" "r.(=)" "p.(=)" "" "0000725384" "00000040" "50" "1088" "-169" "1088" "-169" "c.1088-169C>A" "r.(=)" "p.(=)" "" "0000725385" "00000040" "90" "2210" "0" "2211" "0" "c.2210_2211insA" "r.(?)" "p.(Thr738AspfsTer3)" "" "0000733926" "00000040" "50" "3416" "0" "3416" "0" "c.3416G>A" "r.(?)" "p.(Arg1139Gln)" "" "0000733963" "00000040" "50" "2839" "0" "2839" "0" "c.2839A>G" "r.(?)" "p.(Ile947Val)" "" "0000734007" "00000040" "50" "178" "0" "178" "0" "c.178T>A" "r.(?)" "p.(Leu60Ile)" "" "0000734083" "00000040" "50" "320" "0" "320" "0" "c.320dup" "r.(?)" "p.(Leu107Phefs*36)" "" "0000734136" "00000040" "50" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Val765Ile)" "" "0000734161" "00000040" "50" "178" "0" "178" "0" "c.178T>A" "r.(?)" "p.(Leu60Ile)" "" "0000734442" "00000040" "50" "1762" "0" "1762" "0" "c.1762A>G" "r.(?)" "p.(Lys588Glu)" "" "0000735459" "00000040" "50" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Val765Ile)" "" "0000735535" "00000040" "50" "3472" "0" "3472" "0" "c.3472G>T" "r.(?)" "p.(Asp1158Tyr)" "" "0000807020" "00000040" "30" "1467" "0" "1467" "0" "c.1467G>A" "r.(?)" "p.(Arg489=)" "" "0000807021" "00000040" "30" "3879" "0" "3879" "0" "c.3879A>G" "r.(?)" "p.(Glu1293=)" "" "0000845045" "00000040" "90" "98" "2" "98" "2" "c.98+2dup" "r.spl" "p.?" "" "0000845049" "00000040" "90" "98" "3" "98" "6" "c.98+3_98+6del" "r.spl" "p.?" "" "0000854249" "00000040" "50" "2351" "0" "2351" "0" "c.2351A>G" "r.(?)" "p.(Tyr784Cys)" "" "0000854250" "00000040" "90" "3261" "0" "3261" "0" "c.3261del" "r.(?)" "p.(Phe1087Leufs*11)" "" "0000864200" "00000040" "90" "298" "0" "299" "0" "c.298_299del" "r.(?)" "p.(Gln100Glufs*42)" "" "0000864201" "00000040" "50" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Gln1283=)" "" "0000867909" "00000040" "30" "3729" "0" "3729" "0" "c.3729C>T" "r.(?)" "p.(Thr1243=)" "" "0000873682" "00000040" "70" "53" "0" "56" "0" "c.53_56del" "c.(53_56del)" "p.(Ala18Glufs*7)" "" "0000873684" "00000040" "90" "1933" "0" "1933" "0" "c.1933C>T" "r.(1933c>u)" "p.(Gln645Ter)" "" "0000892432" "00000040" "30" "465" "0" "465" "0" "c.465T>C" "r.(?)" "p.(Asp155=)" "" "0000892433" "00000040" "30" "1221" "-11" "1221" "-11" "c.1221-11del" "r.(=)" "p.(=)" "" "0000892434" "00000040" "30" "2268" "0" "2268" "0" "c.2268A>G" "r.(?)" "p.(Lys756=)" "" "0000892435" "00000040" "90" "2480" "0" "2480" "0" "c.2480T>A" "r.(?)" "p.(Met827Lys)" "" "0000892436" "00000040" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000892437" "00000040" "90" "3210" "2" "3210" "2" "c.3210+2del" "r.spl?" "p.?" "" "0000892438" "00000040" "30" "3798" "0" "3798" "0" "c.3798T>G" "r.(?)" "p.(Val1266=)" "" "0000892439" "00000040" "50" "3872" "0" "3872" "0" "c.3872C>T" "r.(?)" "p.(Pro1291Leu)" "" "0000914426" "00000040" "30" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Pro707Ser)" "" "0000914427" "00000040" "30" "2773" "0" "2773" "0" "c.2773T>G" "r.(?)" "p.(Ser925Ala)" "" "0000914428" "00000040" "30" "3359" "-13" "3359" "-13" "c.3359-13A>G" "r.(=)" "p.(=)" "" "0000914429" "00000040" "30" "3874" "16" "3874" "16" "c.3874+16T>C" "r.(=)" "p.(=)" "" "0000921523" "00000040" "90" "2207" "0" "2212" "0" "c.2207_2212delinsTAGATTC" "r.(?)" "p.(Tyr736Leufs*5)" "" "0000921536" "00000040" "90" "1642" "0" "1642" "0" "c.1642C>T" "r.(?)" "p.(Gln548*)" "" "0000926090" "00000040" "30" "3372" "0" "3372" "0" "c.3372A>G" "r.(?)" "p.(Ala1124=)" "" "0000930477" "00000040" "30" "11" "0" "11" "0" "c.11T>C" "r.(?)" "p.(Val4Ala)" "" "0000930478" "00000040" "30" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Pro707Ser)" "" "0000943880" "00000040" "90" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000950487" "00000040" "30" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Gln1283=)" "" "0000952205" "00000040" "90" "3358" "0" "3358" "0" "c.3358G>A" "r.(?)" "p.(Gly1120Arg)" "" "0000968052" "00000040" "50" "186" "0" "186" "0" "c.186T>G" "r.(?)" "p.(Asn62Lys)" "" "0000981521" "00000040" "50" "470" "0" "470" "0" "c.470T>C" "r.(?)" "p.(Met157Thr)" "" "0000981522" "00000040" "30" "960" "-9" "960" "-9" "c.960-9dup" "r.(=)" "p.(=)" "" "0001001802" "00000040" "30" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Ser144Leu)" "" "0001001803" "00000040" "50" "2237" "0" "2237" "0" "c.2237C>T" "r.(?)" "p.(Ala746Val)" "" "0001001804" "00000040" "70" "2307" "0" "2307" "0" "c.2307G>A" "r.(?)" "p.(=)" "" "0001001805" "00000040" "50" "3970" "0" "3970" "0" "c.3970C>T" "r.(?)" "p.(His1324Tyr)" "" "0001015274" "00000040" "30" "178" "0" "178" "0" "c.178T>A" "r.(?)" "p.(Leu60Ile)" "" "0001016703" "00000040" "90" "1479" "0" "1480" "0" "c.1479_1480del" "r.(?)" "p.(Thr494ProfsTer9)" "" "0001026549" "00000040" "30" "3613" "0" "3613" "0" "c.3613G>A" "r.(?)" "p.(Val1205Ile)" "" "0001040676" "00000040" "30" "-5" "12429" "-5" "12430" "c.-5+12429_-5+12430del" "r.(=)" "p.(=)" "" "0001040677" "00000040" "30" "1088" "-173" "1088" "-173" "c.1088-173G>T" "r.(=)" "p.(=)" "" "0001040678" "00000040" "90" "1933" "0" "1933" "0" "c.1933C>T" "r.(?)" "p.(Gln645Ter)" "" "0001040679" "00000040" "50" "2333" "0" "2333" "0" "c.2333C>G" "r.(?)" "p.(Ser778Cys)" "" "0001040680" "00000040" "50" "3014" "0" "3014" "0" "c.3014T>C" "r.(?)" "p.(Ile1005Thr)" "" "0001040681" "00000040" "50" "3427" "0" "3427" "0" "c.3427G>A" "r.(?)" "p.(Glu1143Lys)" "" "0001046523" "00000040" "10" "1722" "0" "1722" "0" "c.1722A>G" "r.(?)" "p.(Leu574=)" "" "0001047501" "00000040" "90" "2643" "0" "2643" "0" "c.2643G>A" "r.(2643G>A)" "p.(Trp881Ter)" "13" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 84 "{{screeningid}}" "{{variantid}}" "0000000035" "0000000556" "0000090542" "0000148671" "0000090543" "0000148672" "0000090544" "0000148673" "0000090545" "0000148674" "0000090546" "0000148675" "0000090547" "0000148676" "0000090548" "0000148677" "0000090549" "0000148678" "0000090550" "0000148679" "0000090551" "0000148680" "0000090552" "0000148681" "0000090553" "0000148682" "0000090554" "0000148683" "0000090555" "0000148684" "0000090556" "0000148685" "0000090557" "0000148686" "0000090558" "0000148687" "0000090559" "0000148688" "0000090560" "0000148689" "0000090561" "0000148690" "0000090562" "0000148691" "0000090563" "0000148692" "0000090566" "0000148695" "0000090567" "0000148696" "0000090568" "0000148697" "0000090569" "0000148698" "0000090570" "0000148699" "0000090571" "0000148700" "0000090572" "0000148701" "0000090573" "0000148702" "0000090575" "0000148704" "0000090576" "0000148705" "0000090577" "0000148706" "0000090578" "0000148707" "0000090579" "0000148708" "0000090580" "0000148709" "0000090581" "0000148710" "0000090582" "0000148711" "0000090583" "0000148712" "0000090584" "0000148713" "0000090585" "0000148714" "0000090586" "0000148715" "0000091026" "0000149155" "0000247261" "0000500107" "0000249330" "0000578086" "0000249381" "0000578147" "0000267600" "0000598856" "0000267600" "0000598857" "0000267600" "0000598858" "0000267600" "0000598859" "0000267601" "0000598860" "0000292510" "0000649199" "0000292511" "0000649200" "0000292512" "0000649201" "0000292513" "0000649202" "0000292514" "0000649203" "0000296323" "0000653012" "0000302516" "0000665805" "0000302806" "0000666163" "0000302807" "0000666164" "0000302808" "0000666165" "0000307899" "0000674720" "0000307899" "0000674721" "0000307900" "0000674720" "0000307900" "0000674721" "0000335512" "0000733926" "0000335522" "0000733963" "0000335533" "0000734007" "0000335555" "0000734083" "0000335575" "0000734136" "0000335582" "0000734161" "0000335710" "0000734442" "0000336251" "0000735459" "0000336271" "0000735535" "0000408168" "0000845045" "0000408172" "0000845049" "0000415789" "0000873682" "0000415793" "0000873684" "0000435510" "0000921523" "0000435510" "0000921536" "0000444933" "0000952205" "0000459006" "0001016703" "0000468040" "0001047501"