### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BCORL1)
# 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}}"
"BCORL1" "BCL6 corepressor-like 1" "X" "q25-q26.1" "unknown" "NG_021274.1" "UD_132084529038" "" "https://www.LOVD.nl/BCORL1" "" "1" "25657" "63035" "300688" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/BCORL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 14:29:48" "00006" "2018-06-02 18:54:59" "00006" "2026-03-23 16:28:08"
## 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}}"
"00000815" "BCORL1" "BCL6 corepressor-like 1" "001" "NM_021946.4" "" "NP_068765.3" "" "" "" "-44" "7083" "5136" "129139164" "129192058" "00000" "2012-09-13 12:53:55" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"06865" "SHUVER" "Shukla-Vernon syndrome" "XLR" "301029" "" "" "" "00006" "2021-12-10 23:20:41" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"BCORL1" "06865"
## Individuals ## Do not remove or alter this header ##
## Count = 18
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00164644" "" "" "" "3" "" "00006" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "2-generation family, 2 affected brothers, unaffected carrier mother" "M" "no" "Netherlands" "" "0" "" "" "" "24123876-FamW07-1601"
"00173243" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173244" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173245" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173490" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173506" "" "" "" "17" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173543" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00173613" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00391873" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "104P"
"00399568" "" "" "" "1" "" "04248" "" "" "M" "no" "China" "" "" "" "" "" ""
"00436188" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "257851"
"00448787" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU106"
"00448788" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU37"
"00448789" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU50"
"00448790" "" "" "" "1" "" "00006" "{PMID:Chen 2024:38621993}" "" "M" "" "China" "" "0" "" "" "Asia-E" "PatU9"
"00474697" "" "" "" "1" "" "01164" "" "" "M" "yes" "Turkey" "" "0" "" "" "" "366550"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 18
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00164644" "00139"
"00173243" "00187"
"00173244" "00187"
"00173245" "00187"
"00173490" "00187"
"00173506" "00187"
"00173543" "00187"
"00173613" "00187"
"00391873" "00139"
"00399568" "06865"
"00436188" "06865"
"00448787" "00198"
"00448788" "00198"
"00448789" "00198"
"00448790" "00198"
"00474697" "06865"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 01157, 06865
## Count = 17
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000129681" "00139" "00164644" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" ""
"0000138107" "00187" "00173243" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138108" "00187" "00173244" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138109" "00187" "00173245" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138354" "00187" "00173490" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138370" "00187" "00173506" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138407" "00187" "00173543" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000138477" "00187" "00173613" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000292677" "06865" "00399568" "04248" "Familial, X-linked recessive" "02y" "Exotropia，Scoliosis" "" "" "09y" "" "" "" "" "" "" "Intellectual disability" "Delayed speech and language development" ""
"0000326368" "06865" "00436188" "01164" "Familial, X-linked" "08y" "Delayed speech and language development, Specific learning disability, EEG abnormality, Attention deficit hyperactivity disorder, Delayed fine motor development, Neurodevelopmental delay, Severe temper tantrums" "" "" "" "" "" "" "" "" "" "" "" ""
"0000337962" "00198" "00448787" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" ""
"0000337963" "00198" "00448788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" ""
"0000337964" "00198" "00448789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" ""
"0000337965" "00198" "00448790" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral cryptorchidism" ""
"0000359490" "06865" "00474697" "01164" "Unknown" "20y" "Intellectual disability; brother similarly affected" "04y" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 18
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000165508" "00164644" "1" "00006" "00006" "2018-06-02 18:59:40" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000174126" "00173243" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174127" "00173244" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000174128" "00173245" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000174373" "00173490" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000174389" "00173506" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174426" "00173543" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" ""
"0000174496" "00173613" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" ""
"0000393115" "00391873" "1" "02494" "02494" "2021-11-19 13:10:16" "" "" "SEQ-NG" "DNA" "" "WES"
"0000400810" "00399568" "1" "04248" "04248" "2022-01-21 21:25:06" "" "" "SEQ-NG" "DNA" "" ""
"0000437671" "00436188" "1" "01164" "01164" "2023-08-31 12:28:51" "" "" "SEQ-NG-I" "DNA" "" ""
"0000450378" "00448787" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000450379" "00448788" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000450380" "00448789" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000450381" "00448790" "1" "00006" "00006" "2024-04-17 11:57:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000476379" "00474697" "1" "01164" "01164" "2026-03-23 15:42:20" "" "" "SEQ-NG-I" "DNA" "Blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}" "{{geneid}}"
"0000165508" "BCORL1"
"0000174126" "BMX"
"0000174127" "CHRDL1"
"0000174128" "CNKSR2"
"0000174373" "GDPD2"
"0000174389" "PPP1R3F"
"0000174426" "ESX1"
"0000174496" "CPXCR1"
"0000400810" "BCORL1"
"0000437671" "BCORL1"
"0000476379" "BCORL1"
## 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 = 113
"{{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}}"
"0000007621" "20" "50" "X" "129147079" "129147079" "subst" "0.999983" "00037" "BCORL1_000001" "g.129147079T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "g.130013103T>C" "" "VUS" ""
"0000009755" "20" "50" "X" "129147079" "129147079" "subst" "0.999983" "00037" "BCORL1_000001" "g.129147079T>C" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "g.130013103T>C" "" "VUS" ""
"0000256552" "0" "50" "X" "129147751" "129147751" "subst" "1.73169E-5" "01943" "BCORL1_000027" "g.129147751A>C" "" "" "" "BCORL1(NM_021946.4):c.1003A>C (p.T335P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130013775A>C" "" "VUS" ""
"0000256569" "0" "50" "X" "129149104" "129149104" "subst" "5.60014E-6" "01943" "BCORL1_000028" "g.129149104A>G" "" "" "" "BCORL1(NM_001184772.2):c.2356A>G (p.T786A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130015128A>G" "" "VUS" ""
"0000263653" "0" "50" "X" "129148246" "129148246" "subst" "0" "01943" "BCORL1_000008" "g.129148246C>T" "" "" "" "BCORL1(NM_001184772.2):c.1498C>T (p.R500C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130014270C>T" "" "VUS" ""
"0000263654" "0" "30" "X" "129148257" "129148257" "subst" "8.95005E-5" "01943" "BCORL1_000009" "g.129148257G>A" "" "" "" "BCORL1(NM_021946.4):c.1509G>A (p.P503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130014281G>A" "" "likely benign" ""
"0000263655" "0" "30" "X" "129148812" "129148812" "subst" "0.00246803" "01943" "BCORL1_000011" "g.129148812C>T" "" "" "" "BCORL1(NM_001184772.2):c.2064C>T (p.V688=), BCORL1(NM_021946.4):c.2064C>T (p.V688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130014836C>T" "" "likely benign" ""
"0000263656" "0" "50" "X" "129148976" "129148976" "subst" "3.36191E-5" "01943" "BCORL1_000012" "g.129148976G>A" "" "" "" "BCORL1(NM_021946.4):c.2228G>A (p.R743H), BCORL1(NM_021946.5):c.2228G>A (p.R743H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130015000G>A" "" "VUS" ""
"0000263657" "0" "50" "X" "129149190" "129149190" "del" "0" "01943" "BCORL1_000013" "g.129149190del" "" "" "" "BCORL1(NM_001184772.2):c.2442delT (p.R816Gfs*37)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130015214del" "" "VUS" ""
"0000263658" "0" "30" "X" "129147028" "129147028" "subst" "0.000837112" "01943" "BCORL1_000004" "g.129147028G>A" "" "" "" "BCORL1(NM_001184772.2):c.280G>A (p.D94N), BCORL1(NM_001379451.1):c.280G>A (p.(Asp94Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130013052G>A" "" "likely benign" ""
"0000263659" "0" "10" "X" "129150080" "129150080" "subst" "0.00159582" "01943" "BCORL1_000019" "g.129150080C>T" "" "" "" "BCORL1(NM_001379451.1):c.3332C>T (p.(Thr1111Met)), BCORL1(NM_021946.4):c.3332C>T (p.T1111M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130016104C>T" "" "benign" ""
"0000263660" "0" "30" "X" "129159109" "129159109" "subst" "5.03852E-5" "01943" "BCORL1_000022" "g.129159109G>A" "" "" "" "BCORL1(NM_021946.4):c.3833G>A (p.R1278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130025134G>A" "" "likely benign" ""
"0000263661" "0" "50" "X" "129139269" "129139269" "subst" "8.95791E-5" "01943" "BCORL1_000002" "g.129139269G>A" "" "" "" "BCORL1(NM_021946.4):c.62G>A (p.R21H), BCORL1(NM_021946.5):c.62G>A (p.R21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130005293G>A" "" "VUS" ""
"0000335483" "0" "50" "X" "129146962" "129146962" "subst" "0.000207336" "01804" "BCORL1_000003" "g.129146962C>T" "" "" "" "BCORL1(NM_001184772.2):c.214C>T (p.R72W), BCORL1(NM_021946.4):c.214C>T (p.(Arg72Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130012986C>T" "" "VUS" ""
"0000335484" "0" "50" "X" "129147631" "129147631" "subst" "1.68771E-5" "01804" "BCORL1_000005" "g.129147631G>A" "" "" "" "BCORL1(NM_021946.4):c.883G>A (p.(Val295Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130013655G>A" "" "VUS" ""
"0000335485" "0" "50" "X" "129147757" "129147757" "subst" "7.01416E-5" "01804" "BCORL1_000006" "g.129147757G>A" "" "" "" "BCORL1(NM_021946.4):c.1009G>A (p.(Val337Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130013781G>A" "" "VUS" ""
"0000335486" "0" "50" "X" "129147841" "129147841" "subst" "0" "01804" "BCORL1_000007" "g.129147841G>A" "" "" "" "BCORL1(NM_021946.4):c.1093G>A (p.(Gly365Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130013865G>A" "" "VUS" ""
"0000335487" "0" "50" "X" "129148425" "129148425" "subst" "0" "01804" "BCORL1_000010" "g.129148425G>C" "" "" "" "BCORL1(NM_021946.4):c.1677G>C (p.(Lys559Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130014449G>C" "" "VUS" ""
"0000335490" "0" "30" "X" "129149906" "129149906" "subst" "0.004482" "01804" "BCORL1_000016" "g.129149906A>G" "" "" "" "BCORL1(NM_001379451.1):c.3158A>G (p.(Lys1053Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130015930A>G" "" "likely benign" ""
"0000335492" "0" "50" "X" "129150017" "129150017" "subst" "0.000179028" "01804" "BCORL1_000018" "g.129150017G>C" "" "" "" "BCORL1(NM_021946.4):c.3269G>C (p.(Arg1090Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130016041G>C" "" "VUS" ""
"0000335493" "0" "50" "X" "129150080" "129150080" "subst" "0.00159582" "01804" "BCORL1_000019" "g.129150080C>T" "" "" "" "BCORL1(NM_001379451.1):c.3332C>T (p.(Thr1111Met)), BCORL1(NM_021946.4):c.3332C>T (p.T1111M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130016104C>T" "" "VUS" ""
"0000335494" "0" "30" "X" "129154962" "129154962" "subst" "0" "01804" "BCORL1_000020" "g.129154962C>T" "" "" "" "BCORL1(NM_021946.4):c.3444C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130020987C>T" "" "likely benign" ""
"0000335495" "0" "50" "X" "129159021" "129159021" "subst" "1.12009E-5" "01804" "BCORL1_000021" "g.129159021G>A" "" "" "" "BCORL1(NM_001184772.2):c.3745G>A (p.V1249I), BCORL1(NM_021946.4):c.3745G>A (p.(Val1249Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130025046G>A" "" "VUS" ""
"0000335498" "0" "50" "X" "129185989" "129185989" "subst" "1.2705E-5" "01804" "BCORL1_000025" "g.129185989C>T" "" "" "" "BCORL1(NM_021946.4):c.4851C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130052014C>T" "" "VUS" ""
"0000343828" "0" "30" "X" "129149207" "129149207" "subst" "1.68314E-5" "02327" "BCORL1_000026" "g.129149207A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.130015231A>G" "" "likely benign" ""
"0000369174" "21" "70" "X" "129149207" "129149207" "subst" "1.68314E-5" "00006" "BCORL1_000026" "g.129149207A>G" "" "{PMID:Schuurs-Hoeijmakers 2013:24123876}" "" "" "" "Germline" "yes" "" "0" "" "" "g.130015231A>G" "" "likely pathogenic" ""
"0000400900" "1" "30" "X" "129148194" "129148194" "subst" "0.00374637" "00124" "BCORL1_000030" "g.129148194G>A" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P482P" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.130014218G>A" "" "likely benign" ""
"0000400901" "1" "30" "X" "129148812" "129148812" "subst" "0.00246803" "00124" "BCORL1_000011" "g.129148812C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "V688V" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.130014836C>T" "" "likely benign" ""
"0000400902" "1" "30" "X" "129159287" "129159287" "subst" "0.00276012" "00124" "BCORL1_000033" "g.129159287C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S1337S" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.130025312C>T" "" "likely benign" ""
"0000400977" "1" "50" "X" "129155119" "129155119" "subst" "2.48676E-5" "00124" "BCORL1_000032" "g.129155119G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E1201K" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.130021144G>A" "" "VUS" ""
"0000400986" "1" "50" "X" "129147373" "129147373" "subst" "0.0721262" "00124" "BCORL1_000029" "g.129147373G>A" "17/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G209S" "recurrent, found 17 times" "Germline" "" "" "0" "" "" "g.130013397G>A" "" "VUS" ""
"0000401002" "1" "50" "X" "129149906" "129149906" "subst" "0.004482" "00124" "BCORL1_000016" "g.129149906A>G" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "K1053R" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.130015930A>G" "" "VUS" ""
"0000401033" "1" "50" "X" "129149891" "129149891" "subst" "0.000218259" "00124" "BCORL1_000031" "g.129149891G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R1048Q" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.130015915G>A" "" "VUS" ""
"0000573467" "0" "30" "X" "129147049" "129147049" "subst" "5.61375E-5" "01943" "BCORL1_000034" "g.129147049T>C" "" "" "" "BCORL1(NM_001184772.2):c.301T>C (p.Y101H), BCORL1(NM_021946.5):c.301T>C (p.Y101H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013073T>C" "" "likely benign" ""
"0000573468" "0" "30" "X" "129147220" "129147220" "subst" "5.03451E-5" "01943" "BCORL1_000035" "g.129147220G>A" "" "" "" "BCORL1(NM_001184772.2):c.472G>A (p.G158R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013244G>A" "" "likely benign" ""
"0000573469" "0" "50" "X" "129147261" "129147261" "subst" "0" "01943" "BCORL1_000036" "g.129147261G>T" "" "" "" "BCORL1(NM_001184772.2):c.513G>T (p.K171N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013285G>T" "" "VUS" ""
"0000573471" "0" "30" "X" "129147416" "129147416" "subst" "5.61044E-6" "01943" "BCORL1_000038" "g.129147416T>G" "" "" "" "BCORL1(NM_001184772.2):c.668T>G (p.V223G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013440T>G" "" "likely benign" ""
"0000573472" "0" "50" "X" "129147491" "129147491" "subst" "0" "01943" "BCORL1_000039" "g.129147491C>G" "" "" "" "BCORL1(NM_001184772.2):c.743C>G (p.P248R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013515C>G" "" "VUS" ""
"0000573473" "0" "30" "X" "129147630" "129147630" "subst" "0.000461512" "01943" "BCORL1_000040" "g.129147630G>A" "" "" "" "BCORL1(NM_001184772.2):c.882G>A (p.P294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013654G>A" "" "likely benign" ""
"0000573474" "0" "30" "X" "129147745" "129147745" "subst" "0" "01804" "BCORL1_000041" "g.129147745G>A" "" "" "" "BCORL1(NM_021946.4):c.997G>A (p.(Val333Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013769G>A" "" "likely benign" ""
"0000573475" "0" "50" "X" "129149081" "129149081" "subst" "5.60444E-6" "02327" "BCORL1_000042" "g.129149081A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130015105A>G" "" "VUS" ""
"0000573477" "0" "50" "X" "129149171" "129149171" "subst" "2.80148E-5" "01943" "BCORL1_000044" "g.129149171C>T" "" "" "" "BCORL1(NM_001184772.2):c.2423C>T (p.T808M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130015195C>T" "" "VUS" ""
"0000573478" "0" "30" "X" "129149296" "129149296" "subst" "9.02441E-5" "01943" "BCORL1_000045" "g.129149296G>A" "" "" "" "BCORL1(NM_001184772.2):c.2548G>A (p.G850R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130015320G>A" "" "likely benign" ""
"0000573480" "0" "30" "X" "129149986" "129149986" "subst" "1.11883E-5" "01943" "BCORL1_000017" "g.129149986G>A" "" "" "" "BCORL1(NM_001184772.2):c.3238G>A (p.A1080T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130016010G>A" "" "likely benign" ""
"0000573481" "0" "50" "X" "129150092" "129150092" "subst" "5.60328E-6" "01943" "BCORL1_000047" "g.129150092C>T" "" "" "" "BCORL1(NM_001184772.2):c.3344C>T (p.P1115L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130016116C>T" "" "VUS" ""
"0000573482" "0" "30" "X" "129150163" "129150163" "subst" "6.14821E-6" "01943" "BCORL1_000048" "g.129150163G>A" "" "" "" "BCORL1(NM_001184772.2):c.3415G>A (p.V1139M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130016187G>A" "" "likely benign" ""
"0000573484" "0" "30" "X" "129159337" "129159337" "subst" "0.000216916" "01943" "BCORL1_000023" "g.129159337G>A" "" "" "" "BCORL1(NM_001184772.2):c.4061G>A (p.R1354Q), BCORL1(NM_021946.5):c.4061G>A (p.R1354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130025362G>A" "" "likely benign" ""
"0000573485" "0" "30" "X" "129184715" "129184715" "subst" "0.000330469" "01943" "BCORL1_000049" "g.129184715C>T" "" "" "" "BCORL1(NM_001184772.2):c.4864C>T (p.R1622W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130050740C>T" "" "likely benign" ""
"0000573486" "0" "50" "X" "129185907" "129185907" "subst" "0" "01943" "BCORL1_000050" "g.129185907C>T" "" "" "" "BCORL1(NM_001184772.2):c.4991C>T (p.P1664L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130051932C>T" "" "VUS" ""
"0000618990" "0" "30" "X" "129147264" "129147264" "subst" "0.00778082" "01804" "BCORL1_000051" "g.129147264T>C" "" "" "" "BCORL1(NM_001379451.1):c.516T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013288T>C" "" "likely benign" ""
"0000618991" "0" "30" "X" "129147531" "129147531" "subst" "0.00434953" "01804" "BCORL1_000052" "g.129147531G>A" "" "" "" "BCORL1(NM_001184772.2):c.783G>A (p.A261=, p.(Ala261=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013555G>A" "" "likely benign" ""
"0000618992" "0" "30" "X" "129147549" "129147549" "subst" "0" "01943" "BCORL1_000053" "g.129147549G>A" "" "" "" "BCORL1(NM_001184772.2):c.801G>A (p.T267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013573G>A" "" "likely benign" ""
"0000618994" "0" "30" "X" "129149396" "129149396" "subst" "0.000319235" "01943" "BCORL1_000046" "g.129149396G>A" "" "" "" "BCORL1(NM_001184772.2):c.2648G>A (p.G883E), BCORL1(NM_021946.5):c.2648G>A (p.G883E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130015420G>A" "" "likely benign" ""
"0000618996" "0" "30" "X" "129150111" "129150111" "subst" "0.00163241" "01804" "BCORL1_000059" "g.129150111C>T" "" "" "" "BCORL1(NM_021946.4):c.3363C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130016135C>T" "" "likely benign" ""
"0000624413" "0" "50" "X" "129147808" "129147808" "subst" "0" "02329" "BCORL1_000054" "g.129147808T>C" "" "" "" "BCORL1(NM_001184772.2):c.1060T>C (p.S354P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013832T>C" "" "VUS" ""
"0000624414" "0" "50" "X" "129148220" "129148220" "subst" "0" "01943" "BCORL1_000055" "g.129148220C>T" "" "" "" "BCORL1(NM_001184772.2):c.1472C>T (p.P491L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130014244C>T" "" "VUS" ""
"0000624416" "0" "10" "X" "129149349" "129149349" "subst" "0.000577688" "01943" "BCORL1_000056" "g.129149349G>A" "" "" "" "BCORL1(NM_001184772.2):c.2601G>A (p.S867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130015373G>A" "" "benign" ""
"0000624418" "0" "10" "X" "129149931" "129149931" "subst" "0.000553986" "01943" "BCORL1_000057" "g.129149931T>C" "" "" "" "BCORL1(NM_001184772.2):c.3183T>C (p.N1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130015955T>C" "" "benign" ""
"0000659080" "0" "30" "X" "129147242" "129147242" "subst" "3.35591E-5" "01943" "BCORL1_000061" "g.129147242G>A" "" "" "" "BCORL1(NM_001184772.2):c.494G>A (p.R165Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130013266G>A" "" "likely benign" ""
"0000659081" "0" "30" "X" "129189845" "129189845" "subst" "3.53224E-5" "01943" "BCORL1_000062" "g.129189845C>A" "" "" "" "BCORL1(NM_001184772.2):c.5092C>A (p.L1698I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.130055870C>A" "" "likely benign" ""
"0000682083" "0" "50" "X" "129149243" "129149243" "subst" "0" "01943" "BCORL1_000063" "g.129149243G>C" "" "" "" "BCORL1(NM_001184772.2):c.2495G>C (p.G832A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000682084" "0" "30" "X" "129149937" "129149937" "subst" "0.012749" "01804" "BCORL1_000064" "g.129149937C>T" "" "" "" "BCORL1(NM_021946.4):c.3189C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682085" "0" "30" "X" "129150144" "129150144" "subst" "0.0246942" "01804" "BCORL1_000065" "g.129150144C>G" "" "" "" "BCORL1(NM_021946.4):c.3396C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682086" "0" "50" "X" "129159021" "129159021" "subst" "1.12009E-5" "01943" "BCORL1_000021" "g.129159021G>A" "" "" "" "BCORL1(NM_001184772.2):c.3745G>A (p.V1249I), BCORL1(NM_021946.4):c.3745G>A (p.(Val1249Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000693335" "0" "30" "X" "129146962" "129146962" "subst" "0.000207336" "01943" "BCORL1_000003" "g.129146962C>T" "" "" "" "BCORL1(NM_001184772.2):c.214C>T (p.R72W), BCORL1(NM_021946.4):c.214C>T (p.(Arg72Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693336" "0" "50" "X" "129168505" "129168505" "subst" "0" "01943" "BCORL1_000066" "g.129168505A>G" "" "" "" "BCORL1(NM_001184772.2):c.4381A>G (p.T1461A), BCORL1(NM_021946.4):c.4306-2837A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728410" "0" "30" "X" "129147435" "129147435" "subst" "5.62076E-5" "01943" "BCORL1_000067" "g.129147435C>T" "" "" "" "BCORL1(NM_001184772.2):c.687C>T (p.A229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728411" "0" "30" "X" "129147531" "129147531" "subst" "0.00434953" "01943" "BCORL1_000052" "g.129147531G>A" "" "" "" "BCORL1(NM_001184772.2):c.783G>A (p.A261=, p.(Ala261=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728412" "0" "30" "X" "129147801" "129147801" "subst" "0" "01943" "BCORL1_000068" "g.129147801C>T" "" "" "" "BCORL1(NM_001184772.2):c.1053C>T (p.A351=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728413" "0" "50" "X" "129148372" "129148372" "subst" "0" "02325" "BCORL1_000069" "g.129148372G>A" "" "" "" "BCORL1(NM_021946.5):c.1624G>A (p.D542N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728414" "0" "50" "X" "129148844" "129148844" "subst" "1.67868E-5" "01943" "BCORL1_000070" "g.129148844C>T" "" "" "" "BCORL1(NM_001184772.2):c.2096C>T (p.P699L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728415" "0" "30" "X" "129149253" "129149253" "subst" "5.63098E-6" "01943" "BCORL1_000071" "g.129149253G>A" "" "" "" "BCORL1(NM_001184772.2):c.2505G>A (p.P835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728416" "0" "50" "X" "129159289" "129159289" "subst" "3.18882E-5" "01943" "BCORL1_000072" "g.129159289G>A" "" "" "" "BCORL1(NM_001184772.2):c.4013G>A (p.R1338Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809876" "0" "50" "X" "129147377" "129147377" "subst" "3.92828E-5" "01943" "BCORL1_000073" "g.129147377C>T" "" "" "" "BCORL1(NM_001184772.2):c.629C>T (p.S210L), BCORL1(NM_021946.5):c.629C>T (p.S210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809877" "0" "30" "X" "129149891" "129149891" "subst" "0.000218259" "01943" "BCORL1_000031" "g.129149891G>A" "" "" "" "BCORL1(NM_001184772.2):c.3143G>A (p.R1048Q), BCORL1(NM_021946.5):c.3143G>A (p.R1048Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809878" "0" "30" "X" "129184732" "129184732" "subst" "3.93108E-5" "01943" "BCORL1_000074" "g.129184732C>T" "" "" "" "BCORL1(NM_001184772.2):c.4881C>T (p.P1627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000823731" "0" "50" "X" "129148580" "129148580" "subst" "0" "02494" "BCORL1_000075" "g.129148580T>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" ""
"0000833834" "1" "70" "X" "129148655" "129148655" "subst" "1.12039E-5" "04248" "BCORL1_000076" "g.129148655C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.130014679C>T" "" "VUS" "ACMG"
"0000856334" "0" "50" "X" "129139269" "129139269" "subst" "8.95791E-5" "02325" "BCORL1_000002" "g.129139269G>A" "" "" "" "BCORL1(NM_021946.4):c.62G>A (p.R21H), BCORL1(NM_021946.5):c.62G>A (p.R21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000856335" "0" "50" "X" "129149858" "129149858" "subst" "5.5961E-6" "01943" "BCORL1_000079" "g.129149858G>A" "" "" "" "BCORL1(NM_001184772.2):c.3110G>A (p.R1037H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000856336" "0" "30" "X" "129155073" "129155073" "subst" "0.000311053" "01943" "BCORL1_000080" "g.129155073G>A" "" "" "" "BCORL1(NM_001184772.2):c.3555G>A (p.P1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856337" "0" "50" "X" "129190068" "129190068" "subst" "1.81318E-5" "01943" "BCORL1_000083" "g.129190068G>T" "" "" "" "BCORL1(NM_001184772.2):c.5315G>T (p.R1772L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867029" "0" "50" "X" "129147530" "129147530" "subst" "6.7348E-5" "01943" "BCORL1_000077" "g.129147530C>T" "" "" "" "BCORL1(NM_001184772.2):c.782C>T (p.A261V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867030" "0" "50" "X" "129148226" "129148226" "subst" "5.59669E-6" "01804" "BCORL1_000078" "g.129148226T>C" "" "" "" "BCORL1(NM_001379451.1):c.1478T>C (p.(Val493Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867031" "0" "50" "X" "129156905" "129156905" "subst" "0" "02325" "BCORL1_000081" "g.129156905G>A" "" "" "" "BCORL1(NM_021946.5):c.3641G>A (p.R1214H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867032" "0" "50" "X" "129168457" "129168457" "subst" "0" "01943" "BCORL1_000082" "g.129168457A>T" "" "" "" "BCORL1(NM_001184772.2):c.4333A>T (p.T1445S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000895923" "0" "10" "X" "129147049" "129147049" "subst" "5.61375E-5" "02325" "BCORL1_000034" "g.129147049T>C" "" "" "" "BCORL1(NM_001184772.2):c.301T>C (p.Y101H), BCORL1(NM_021946.5):c.301T>C (p.Y101H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000895924" "0" "30" "X" "129149396" "129149396" "subst" "0.000319235" "02325" "BCORL1_000046" "g.129149396G>A" "" "" "" "BCORL1(NM_001184772.2):c.2648G>A (p.G883E), BCORL1(NM_021946.5):c.2648G>A (p.G883E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000895925" "0" "50" "X" "129149726" "129149726" "subst" "1.11902E-5" "02327" "BCORL1_000014" "g.129149726A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000895926" "0" "50" "X" "129150038" "129150038" "subst" "0" "02325" "BCORL1_000084" "g.129150038G>C" "" "" "" "BCORL1(NM_021946.5):c.3290G>C (p.G1097A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000915601" "0" "50" "X" "129147377" "129147377" "subst" "3.92828E-5" "02325" "BCORL1_000073" "g.129147377C>T" "" "" "" "BCORL1(NM_001184772.2):c.629C>T (p.S210L), BCORL1(NM_021946.5):c.629C>T (p.S210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000927255" "0" "30" "X" "129149891" "129149891" "subst" "0.000218259" "02325" "BCORL1_000031" "g.129149891G>A" "" "" "" "BCORL1(NM_001184772.2):c.3143G>A (p.R1048Q), BCORL1(NM_021946.5):c.3143G>A (p.R1048Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000927256" "0" "50" "X" "129185987" "129185987" "subst" "3.1569E-5" "02325" "BCORL1_000085" "g.129185987C>T" "" "" "" "BCORL1(NM_021946.5):c.4849C>T (p.R1617C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000931335" "0" "50" "X" "129148976" "129148976" "subst" "3.36191E-5" "02325" "BCORL1_000012" "g.129148976G>A" "" "" "" "BCORL1(NM_021946.4):c.2228G>A (p.R743H), BCORL1(NM_021946.5):c.2228G>A (p.R743H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000933023" "21" "70" "X" "129147034" "129147034" "subst" "0" "01164" "BCORL1_000086" "g.129147034C>T" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "" "" "" "g.130013058C>T" "" "likely pathogenic (recessive)" "ACMG"
"0000951678" "0" "30" "X" "129149417" "129149417" "subst" "0.000252244" "02325" "BCORL1_000087" "g.129149417G>A" "" "" "" "BCORL1(NM_021946.5):c.2669G>A (p.R890Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000951679" "0" "30" "X" "129159337" "129159337" "subst" "0.000216916" "02325" "BCORL1_000023" "g.129159337G>A" "" "" "" "BCORL1(NM_001184772.2):c.4061G>A (p.R1354Q), BCORL1(NM_021946.5):c.4061G>A (p.R1354Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000970730" "0" "50" "X" "129159340" "129159340" "subst" "6.98216E-5" "02325" "BCORL1_000088" "g.129159340G>A" "" "" "" "BCORL1(NM_021946.5):c.4064G>A (p.R1355Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000972353" "0" "70" "X" "129162702" "129162702" "subst" "0.000318792" "00006" "BCORL1_000089" "g.129162702G>A" "" "{PMID:Chen 2024:38621993}" "" "" "variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.130028727G>A" "" "likely pathogenic (dominant)" ""
"0000972354" "0" "70" "X" "129162702" "129162702" "subst" "0.000318792" "00006" "BCORL1_000089" "g.129162702G>A" "" "{PMID:Chen 2024:38621993}" "" "" "variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.130028727G>A" "" "likely pathogenic (dominant)" ""
"0000972355" "0" "70" "X" "129162702" "129162702" "subst" "0.000318792" "00006" "BCORL1_000089" "g.129162702G>A" "" "{PMID:Chen 2024:38621993}" "" "" "variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.130028727G>A" "" "likely pathogenic (dominant)" ""
"0000972356" "0" "70" "X" "129162702" "129162702" "subst" "0.000318792" "00006" "BCORL1_000089" "g.129162702G>A" "" "{PMID:Chen 2024:38621993}" "" "" "variant not in male controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.130028727G>A" "" "likely pathogenic (dominant)" ""
"0000984446" "0" "30" "X" "129147028" "129147028" "subst" "0.000837112" "01804" "BCORL1_000004" "g.129147028G>A" "" "" "" "BCORL1(NM_001184772.2):c.280G>A (p.D94N), BCORL1(NM_001379451.1):c.280G>A (p.(Asp94Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006416" "0" "30" "X" "129148954" "129148954" "subst" "0" "01804" "BCORL1_000090" "g.129148954C>G" "" "" "" "BCORL1(NM_021946.4):c.2206C>G (p.(Leu736Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006417" "0" "30" "X" "129155039" "129155039" "subst" "0.00015824" "01804" "BCORL1_000091" "g.129155039A>G" "" "" "" "BCORL1(NM_021946.4):c.3521A>G (p.(Asn1174Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006418" "0" "30" "X" "129159082" "129159082" "subst" "0" "01804" "BCORL1_000092" "g.129159082G>C" "" "" "" "BCORL1(NM_021946.4):c.3806G>C (p.(Arg1269Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006419" "0" "50" "X" "129173135" "129173135" "subst" "0" "01804" "BCORL1_000093" "g.129173135A>G" "" "" "" "BCORL1(NM_021946.4):c.4496A>G (p.(Asn1499Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006420" "0" "50" "X" "129185988" "129185988" "subst" "1.27134E-5" "01804" "BCORL1_000094" "g.129185988G>A" "" "" "" "BCORL1(NM_021946.4):c.4850G>A (p.(Arg1617His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044091" "0" "50" "X" "129147930" "129147931" "dup" "0" "01804" "BCORL1_000096" "g.129147930_129147931dup" "" "" "" "BCORL1(NM_001379451.1):c.1182_1183dup (p.(Thr395Ilefs*24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044092" "0" "30" "X" "129159041" "129159043" "del" "0" "02325" "BCORL1_000097" "g.129159041_129159043del" "" "" "" "BCORL1(NM_021946.5):c.3765_3767delAGA (p.E1257del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044093" "0" "50" "X" "129159042" "129159042" "subst" "1.67876E-5" "02325" "BCORL1_000098" "g.129159042G>A" "" "" "" "BCORL1(NM_021946.5):c.3766G>A (p.E1256K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067783" "0" "50" "X" "129148226" "129148226" "subst" "5.59669E-6" "02325" "BCORL1_000078" "g.129148226T>C" "" "" "" "BCORL1(NM_001379451.1):c.1478T>C (p.(Val493Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001071186" "0" "50" "X" "129171340" "129171340" "subst" "0" "01164" "BCORL1_000099" "g.129171340A>G" "" "" "" "" "ACMG/AMP: PVS1, PM2_sup" "Germline" "?" "" "" "" "" "g.130034453A>G" "" "likely 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 BCORL1
## Count = 113
"{{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}}"
"0000007621" "00000815" "50" "331" "0" "331" "0" "c.331T>C" "" "p.(Phe111Leu)" ""
"0000009755" "00000815" "50" "331" "0" "331" "0" "c.331T>C" "" "p.(Phe111Leu)" ""
"0000256552" "00000815" "50" "1003" "0" "1003" "0" "c.1003A>C" "r.(?)" "p.(Thr335Pro)" ""
"0000256569" "00000815" "50" "2356" "0" "2356" "0" "c.2356A>G" "r.(?)" "p.(Thr786Ala)" ""
"0000263653" "00000815" "50" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Arg500Cys)" ""
"0000263654" "00000815" "30" "1509" "0" "1509" "0" "c.1509G>A" "r.(?)" "p.(Pro503=)" ""
"0000263655" "00000815" "30" "2064" "0" "2064" "0" "c.2064C>T" "r.(?)" "p.(Val688=)" ""
"0000263656" "00000815" "50" "2228" "0" "2228" "0" "c.2228G>A" "r.(?)" "p.(Arg743His)" ""
"0000263657" "00000815" "50" "2442" "0" "2442" "0" "c.2442del" "r.(?)" "p.(Arg816GlyfsTer37)" ""
"0000263658" "00000815" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Asp94Asn)" ""
"0000263659" "00000815" "10" "3332" "0" "3332" "0" "c.3332C>T" "r.(?)" "p.(Thr1111Met)" ""
"0000263660" "00000815" "30" "3833" "0" "3833" "0" "c.3833G>A" "r.(?)" "p.(Arg1278His)" ""
"0000263661" "00000815" "50" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Arg21His)" ""
"0000335483" "00000815" "50" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Trp)" ""
"0000335484" "00000815" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Val295Ile)" ""
"0000335485" "00000815" "50" "1009" "0" "1009" "0" "c.1009G>A" "r.(?)" "p.(Val337Ile)" ""
"0000335486" "00000815" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Gly365Ser)" ""
"0000335487" "00000815" "50" "1677" "0" "1677" "0" "c.1677G>C" "r.(?)" "p.(Lys559Asn)" ""
"0000335490" "00000815" "30" "3158" "0" "3158" "0" "c.3158A>G" "r.(?)" "p.(Lys1053Arg)" ""
"0000335492" "00000815" "50" "3269" "0" "3269" "0" "c.3269G>C" "r.(?)" "p.(Arg1090Pro)" ""
"0000335493" "00000815" "50" "3332" "0" "3332" "0" "c.3332C>T" "r.(?)" "p.(Thr1111Met)" ""
"0000335494" "00000815" "30" "3444" "0" "3444" "0" "c.3444C>T" "r.(?)" "p.(Cys1148=)" ""
"0000335495" "00000815" "50" "3745" "0" "3745" "0" "c.3745G>A" "r.(?)" "p.(Val1249Ile)" ""
"0000335498" "00000815" "50" "4851" "0" "4851" "0" "c.4851C>T" "r.(?)" "p.(Arg1617=)" ""
"0000343828" "00000815" "30" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Asn820Ser)" ""
"0000369174" "00000815" "70" "2459" "0" "2459" "0" "c.2459A>G" "r.(?)" "p.(Asn820Ser)" ""
"0000400900" "00000815" "30" "1446" "0" "1446" "0" "c.1446G>A" "r.(?)" "p.(=)" "0"
"0000400901" "00000815" "30" "2064" "0" "2064" "0" "c.2064C>T" "r.(?)" "p.(=)" "0"
"0000400902" "00000815" "30" "4011" "0" "4011" "0" "c.4011C>T" "r.(?)" "p.(=)" "0"
"0000400977" "00000815" "50" "3601" "0" "3601" "0" "c.3601G>A" "r.(?)" "p.(E1201K)" "0"
"0000400986" "00000815" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(G209S)" "0"
"0000401002" "00000815" "50" "3158" "0" "3158" "0" "c.3158A>G" "r.(?)" "p.(K1053R)" "0"
"0000401033" "00000815" "50" "3143" "0" "3143" "0" "c.3143G>A" "r.(?)" "p.(R1048Q)" "0"
"0000573467" "00000815" "30" "301" "0" "301" "0" "c.301T>C" "r.(?)" "p.(Tyr101His)" ""
"0000573468" "00000815" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Gly158Arg)" ""
"0000573469" "00000815" "50" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Lys171Asn)" ""
"0000573471" "00000815" "30" "668" "0" "668" "0" "c.668T>G" "r.(?)" "p.(Val223Gly)" ""
"0000573472" "00000815" "50" "743" "0" "743" "0" "c.743C>G" "r.(?)" "p.(Pro248Arg)" ""
"0000573473" "00000815" "30" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(Pro294=)" ""
"0000573474" "00000815" "30" "997" "0" "997" "0" "c.997G>A" "r.(?)" "p.(Val333Ile)" ""
"0000573475" "00000815" "50" "2333" "0" "2333" "0" "c.2333A>G" "r.(?)" "p.(Gln778Arg)" ""
"0000573477" "00000815" "50" "2423" "0" "2423" "0" "c.2423C>T" "r.(?)" "p.(Thr808Met)" ""
"0000573478" "00000815" "30" "2548" "0" "2548" "0" "c.2548G>A" "r.(?)" "p.(Gly850Arg)" ""
"0000573480" "00000815" "30" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Ala1080Thr)" ""
"0000573481" "00000815" "50" "3344" "0" "3344" "0" "c.3344C>T" "r.(?)" "p.(Pro1115Leu)" ""
"0000573482" "00000815" "30" "3415" "0" "3415" "0" "c.3415G>A" "r.(?)" "p.(Val1139Met)" ""
"0000573484" "00000815" "30" "4061" "0" "4061" "0" "c.4061G>A" "r.(?)" "p.(Arg1354Gln)" ""
"0000573485" "00000815" "30" "4642" "0" "4642" "0" "c.4642C>T" "r.(?)" "p.(Arg1548Trp)" ""
"0000573486" "00000815" "50" "4769" "0" "4769" "0" "c.4769C>T" "r.(?)" "p.(Pro1590Leu)" ""
"0000618990" "00000815" "30" "516" "0" "516" "0" "c.516T>C" "r.(?)" "p.(Asn172=)" ""
"0000618991" "00000815" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Ala261=)" ""
"0000618992" "00000815" "30" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(Thr267=)" ""
"0000618994" "00000815" "30" "2648" "0" "2648" "0" "c.2648G>A" "r.(?)" "p.(Gly883Glu)" ""
"0000618996" "00000815" "30" "3363" "0" "3363" "0" "c.3363C>T" "r.(?)" "p.(Cys1121=)" ""
"0000624413" "00000815" "50" "1060" "0" "1060" "0" "c.1060T>C" "r.(?)" "p.(Ser354Pro)" ""
"0000624414" "00000815" "50" "1472" "0" "1472" "0" "c.1472C>T" "r.(?)" "p.(Pro491Leu)" ""
"0000624416" "00000815" "10" "2601" "0" "2601" "0" "c.2601G>A" "r.(?)" "p.(Ser867=)" ""
"0000624418" "00000815" "10" "3183" "0" "3183" "0" "c.3183T>C" "r.(?)" "p.(Asn1061=)" ""
"0000659080" "00000815" "30" "494" "0" "494" "0" "c.494G>A" "r.(?)" "p.(Arg165Gln)" ""
"0000659081" "00000815" "30" "4870" "0" "4870" "0" "c.4870C>A" "r.(?)" "p.(Leu1624Ile)" ""
"0000682083" "00000815" "50" "2495" "0" "2495" "0" "c.2495G>C" "r.(?)" "p.(Gly832Ala)" ""
"0000682084" "00000815" "30" "3189" "0" "3189" "0" "c.3189C>T" "r.(?)" "p.(Ala1063=)" ""
"0000682085" "00000815" "30" "3396" "0" "3396" "0" "c.3396C>G" "r.(?)" "p.(Leu1132=)" ""
"0000682086" "00000815" "50" "3745" "0" "3745" "0" "c.3745G>A" "r.(?)" "p.(Val1249Ile)" ""
"0000693335" "00000815" "30" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Trp)" ""
"0000693336" "00000815" "50" "4306" "-2837" "4306" "-2837" "c.4306-2837A>G" "r.(=)" "p.(=)" ""
"0000728410" "00000815" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Ala229=)" ""
"0000728411" "00000815" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Ala261=)" ""
"0000728412" "00000815" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Ala351=)" ""
"0000728413" "00000815" "50" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Asp542Asn)" ""
"0000728414" "00000815" "50" "2096" "0" "2096" "0" "c.2096C>T" "r.(?)" "p.(Pro699Leu)" ""
"0000728415" "00000815" "30" "2505" "0" "2505" "0" "c.2505G>A" "r.(?)" "p.(Pro835=)" ""
"0000728416" "00000815" "50" "4013" "0" "4013" "0" "c.4013G>A" "r.(?)" "p.(Arg1338Gln)" ""
"0000809876" "00000815" "50" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ser210Leu)" ""
"0000809877" "00000815" "30" "3143" "0" "3143" "0" "c.3143G>A" "r.(?)" "p.(Arg1048Gln)" ""
"0000809878" "00000815" "30" "4659" "0" "4659" "0" "c.4659C>T" "r.(?)" "p.(Pro1553=)" ""
"0000823731" "00000815" "50" "1832" "0" "1832" "0" "c.1832T>C" "r.(?)" "p.(Met611Thr)" ""
"0000833834" "00000815" "70" "1907" "0" "1907" "0" "c.1907C>T" "r.(?)" "p.(Pro636Leu)" ""
"0000856334" "00000815" "50" "62" "0" "62" "0" "c.62G>A" "r.(?)" "p.(Arg21His)" ""
"0000856335" "00000815" "50" "3110" "0" "3110" "0" "c.3110G>A" "r.(?)" "p.(Arg1037His)" ""
"0000856336" "00000815" "30" "3555" "0" "3555" "0" "c.3555G>A" "r.(?)" "p.(Pro1185=)" ""
"0000856337" "00000815" "50" "5093" "0" "5093" "0" "c.5093G>T" "r.(?)" "p.(Arg1698Leu)" ""
"0000867029" "00000815" "50" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Ala261Val)" ""
"0000867030" "00000815" "50" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Val493Ala)" ""
"0000867031" "00000815" "50" "3641" "0" "3641" "0" "c.3641G>A" "r.(?)" "p.(Arg1214His)" ""
"0000867032" "00000815" "50" "4306" "-2885" "4306" "-2885" "c.4306-2885A>T" "r.(=)" "p.(=)" ""
"0000895923" "00000815" "10" "301" "0" "301" "0" "c.301T>C" "r.(?)" "p.(Tyr101His)" ""
"0000895924" "00000815" "30" "2648" "0" "2648" "0" "c.2648G>A" "r.(?)" "p.(Gly883Glu)" ""
"0000895925" "00000815" "50" "2978" "0" "2978" "0" "c.2978A>G" "r.(?)" "p.(His993Arg)" ""
"0000895926" "00000815" "50" "3290" "0" "3290" "0" "c.3290G>C" "r.(?)" "p.(Gly1097Ala)" ""
"0000915601" "00000815" "50" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Ser210Leu)" ""
"0000927255" "00000815" "30" "3143" "0" "3143" "0" "c.3143G>A" "r.(?)" "p.(Arg1048Gln)" ""
"0000927256" "00000815" "50" "4849" "0" "4849" "0" "c.4849C>T" "r.(?)" "p.(Arg1617Cys)" ""
"0000931335" "00000815" "50" "2228" "0" "2228" "0" "c.2228G>A" "r.(?)" "p.(Arg743His)" ""
"0000933023" "00000815" "70" "286" "0" "286" "0" "c.286C>T" "r.(?)" "p.(Gln96*)" ""
"0000951678" "00000815" "30" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Arg890Gln)" ""
"0000951679" "00000815" "30" "4061" "0" "4061" "0" "c.4061G>A" "r.(?)" "p.(Arg1354Gln)" ""
"0000970730" "00000815" "50" "4064" "0" "4064" "0" "c.4064G>A" "r.(?)" "p.(Arg1355Gln)" ""
"0000972353" "00000815" "70" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Gly1391Arg)" ""
"0000972354" "00000815" "70" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Gly1391Arg)" ""
"0000972355" "00000815" "70" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Gly1391Arg)" ""
"0000972356" "00000815" "70" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Gly1391Arg)" ""
"0000984446" "00000815" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Asp94Asn)" ""
"0001006416" "00000815" "30" "2206" "0" "2206" "0" "c.2206C>G" "r.(?)" "p.(Leu736Val)" ""
"0001006417" "00000815" "30" "3521" "0" "3521" "0" "c.3521A>G" "r.(?)" "p.(Asn1174Ser)" ""
"0001006418" "00000815" "30" "3806" "0" "3806" "0" "c.3806G>C" "r.(?)" "p.(Arg1269Thr)" ""
"0001006419" "00000815" "50" "4496" "0" "4496" "0" "c.4496A>G" "r.(?)" "p.(Asn1499Ser)" ""
"0001006420" "00000815" "50" "4850" "0" "4850" "0" "c.4850G>A" "r.(?)" "p.(Arg1617His)" ""
"0001044091" "00000815" "50" "1182" "0" "1183" "0" "c.1182_1183dup" "r.(?)" "p.(Thr395Ilefs*24)" ""
"0001044092" "00000815" "30" "3765" "0" "3767" "0" "c.3765_3767del" "r.(?)" "p.(Glu1257del)" ""
"0001044093" "00000815" "50" "3766" "0" "3766" "0" "c.3766G>A" "r.(?)" "p.(Glu1256Lys)" ""
"0001067783" "00000815" "50" "1478" "0" "1478" "0" "c.1478T>C" "r.(?)" "p.(Val493Ala)" ""
"0001071186" "00000815" "50" "4306" "-2" "4306" "-2" "c.4306-2A>G" "r.spl?" "p.?" "9"
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 18
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000007621"
"0000000210" "0000009755"
"0000165508" "0000369174"
"0000174126" "0000400900"
"0000174127" "0000400901"
"0000174128" "0000400902"
"0000174373" "0000400977"
"0000174389" "0000400986"
"0000174426" "0000401002"
"0000174496" "0000401033"
"0000393115" "0000823731"
"0000400810" "0000833834"
"0000437671" "0000933023"
"0000450378" "0000972353"
"0000450379" "0000972354"
"0000450380" "0000972355"
"0000450381" "0000972356"
"0000476379" "0001071186"