### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CD40LG) # 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}}" "CD40LG" "CD40 ligand" "X" "q26" "unknown" "LRG_141" "UD_132085232105" "" "http://www.LOVD.nl/CD40LG" "" "1" "11935" "959" "300386" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "alias TNFSF5" "g" "http://databases.lovd.nl/shared/refseq/CD40LG_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2015-10-12 12:56:45" "00000" "2026-01-20 18:57:21" ## 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}}" "00000943" "CD40LG" "CD40 ligand" "001" "NM_000074.2" "" "NP_000065.1" "" "" "" "-72" "1761" "786" "135730336" "135742549" "00000" "2012-09-13 13:00:21" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02243" "HIGM1" "immunodeficiency, with hyper IgM, type 1 (HIGM-1)" "XLR" "308230" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CD40LG" "02243" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00046848" "" "" "" "36" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "00046849" "" "" "" "3" "" "00006" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "" "00046850" "" "" "" "1" "" "01363" "" "" "M" "" "Tunisia" "" "0" "" "" "" "" "00046851" "" "" "" "1" "" "01363" "" "" "M" "no" "Tunisia" "" "0" "" "" "" "" "00046852" "" "" "" "1" "" "01363" "" "" "M" "no" "Tunisia" "" "0" "" "" "" "" "00433037" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Ecuador" "" "0" "" "" "" "Pat3,1" "00433039" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Norway" "" "0" "" "" "" "Pat6,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00046848" "00187" "00046849" "00187" "00046850" "02243" "00046851" "02243" "00046852" "02243" "00433037" "05292" "00433039" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 02243, 05292 ## Count = 8 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000034305" "00187" "00046848" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "0000034306" "00187" "00046849" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "0000034307" "02243" "00046850" "01363" "Familial, X-linked recessive" "" "X-Linked hyper IgM" "" "" "" "" "" "" "" "" "" "0000034308" "02243" "00046851" "01363" "Familial, X-linked recessive" "" "X-Linked hyper IgM" "" "" "" "" "" "" "" "" "" "0000034309" "02243" "00046852" "01363" "Familial, X-linked recessive" "" "X-Linked hyper IgM" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "0000323563" "05292" "00433037" "00006" "Familial, X-linked" "2y6m" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "0000323565" "05292" "00433039" "00006" "Familial, X-linked" "20y" "antibody deficiency including hyper IgM syndrome" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000046957" "00046848" "1" "00006" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000046958" "00046849" "1" "00006" "00006" "2009-10-28 15:09:48" "" "" "SEQ" "DNA" "" "" "0000046959" "00046850" "1" "01363" "01363" "2015-07-20 17:19:52" "00006" "2015-10-12 12:46:54" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000046960" "00046851" "1" "01363" "01363" "2015-07-20 12:04:52" "" "" "SEQ" "DNA" "" "" "0000046961" "00046852" "1" "01363" "01363" "2015-07-20 12:08:21" "" "" "SEQ" "DNA" "" "" "0000434468" "00433037" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000434470" "00433039" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000046957" "CD40LG" "0000046958" "CD40LG" "0000046959" "CD40LG" "0000046960" "CD40LG" "0000046961" "CD40LG" ## 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 = 32 "{{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}}" "0000011242" "0" "30" "X" "135742079" "135742079" "del" "0" "00037" "CD40LG_000006" "g.135742079del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.136659920del" "" "likely benign" "" "0000075623" "20" "10" "X" "135730555" "135730555" "subst" "0.240676" "00124" "CD40LG_000001" "g.135730555T>C" "36/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L50L" "recurrent, found 36 times" "Germline" "" "" "0" "" "" "g.136648396T>C" "" "benign" "" "0000075624" "20" "50" "X" "135741443" "135741443" "subst" "0.0112287" "00124" "CD40LG_000002" "g.135741443G>A" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "G219R" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.136659284G>A" "" "VUS" "" "0000075625" "3" "90" "X" "135736589" "135736589" "subst" "0" "01363" "CD40LG_000005" "g.135736589G>A" "" "" "" "g.6182G>A" "" "Germline" "" "" "0" "" "" "g.136654430G>A" "" "pathogenic" "" "0000075626" "20" "90" "X" "135738516" "135738519" "dup" "0" "01363" "CD40LG_000003" "g.135738516_135738519dup" "" "" "" "g.8109_8112dupTGAT" "" "Germline" "" "" "0" "" "" "g.136656357_136656360dup" "" "pathogenic" "" "0000075627" "20" "90" "X" "135741570" "135741576" "del" "0" "01363" "CD40LG_000004" "g.135741570_135741576del" "" "" "" "g.11163_11169delTCTGAAC" "" "Germline" "" "" "0" "" "" "g.136659411_136659417del" "" "pathogenic" "" "0000256184" "0" "50" "X" "135730562" "135730562" "subst" "0" "01943" "CD40LG_000008" "g.135730562A>C" "" "" "" "CD40LG(NM_000074.2):c.155A>C (p.K52T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136648403A>C" "" "VUS" "" "0000266574" "0" "10" "X" "135730555" "135730555" "subst" "0.240676" "02325" "CD40LG_000001" "g.135730555T>C" "" "" "" "CD40LG(NM_000074.2):c.148T>C (p.L50=), CD40LG(NM_000074.3):c.148T>C (p.L50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136648396T>C" "" "benign" "" "0000266575" "0" "10" "X" "135741185" "135741185" "subst" "0.166195" "02325" "CD40LG_000010" "g.135741185T>C" "" "" "" "CD40LG(NM_000074.2):c.410-13T>C, CD40LG(NM_000074.3):c.410-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659026T>C" "" "benign" "" "0000269881" "0" "10" "X" "135730555" "135730555" "subst" "0.240676" "02326" "CD40LG_000001" "g.135730555T>C" "" "" "" "CD40LG(NM_000074.2):c.148T>C (p.L50=), CD40LG(NM_000074.3):c.148T>C (p.L50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136648396T>C" "" "benign" "" "0000269882" "0" "30" "X" "135741185" "135741185" "subst" "0.166195" "02326" "CD40LG_000010" "g.135741185T>C" "" "" "" "CD40LG(NM_000074.2):c.410-13T>C, CD40LG(NM_000074.3):c.410-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659026T>C" "" "likely benign" "" "0000269883" "0" "90" "X" "135741283" "135741287" "del" "0" "02326" "CD40LG_000011" "g.135741283_135741287del" "" "" "" "CD40LG(NM_000074.2):c.495_499delACAAG (p.Q166Tfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659124_136659128del" "" "pathogenic" "" "0000269884" "0" "30" "X" "135741443" "135741443" "subst" "0.0112287" "02326" "CD40LG_000002" "g.135741443G>A" "" "" "" "CD40LG(NM_000074.2):c.655G>A (p.G219R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659284G>A" "" "likely benign" "" "0000272879" "0" "30" "X" "135730446" "135730446" "subst" "4.48194E-5" "01943" "CD40LG_000007" "g.135730446G>A" "" "" "" "CD40LG(NM_000074.2):c.39G>A (p.A13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136648287G>A" "" "likely benign" "" "0000272880" "0" "10" "X" "135741330" "135741330" "subst" "0.00187166" "01943" "CD40LG_000012" "g.135741330G>A" "" "" "" "CD40LG(NM_000074.2):c.542G>A (p.R181Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659171G>A" "" "benign" "" "0000272881" "0" "30" "X" "135741389" "135741389" "subst" "0.000106468" "01943" "CD40LG_000014" "g.135741389T>C" "" "" "" "CD40LG(NM_000074.2):c.601T>C (p.F201L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659230T>C" "" "likely benign" "" "0000272882" "0" "90" "X" "135741549" "135741549" "subst" "0" "01943" "CD40LG_000015" "g.135741549C>T" "" "" "" "CD40LG(NM_000074.2):c.761C>T (p.T254M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659390C>T" "" "pathogenic" "" "0000335674" "0" "50" "X" "135741378" "135741378" "subst" "0" "01804" "CD40LG_000013" "g.135741378C>G" "" "" "" "CD40LG(NM_000074.2):c.590C>G (p.(Ser197Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.136659219C>G" "" "VUS" "" "0000573770" "0" "30" "X" "135730439" "135730439" "subst" "0.000134459" "01943" "CD40LG_000016" "g.135730439G>A" "" "" "" "CD40LG(NM_000074.2):c.32G>A (p.R11Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136648280G>A" "" "likely benign" "" "0000573772" "0" "30" "X" "135741275" "135741275" "subst" "0.000129016" "01943" "CD40LG_000018" "g.135741275G>A" "" "" "" "CD40LG(NM_000074.2):c.487G>A (p.V163I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136659116G>A" "" "likely benign" "" "0000659101" "0" "30" "X" "135732562" "135732562" "subst" "0" "01943" "CD40LG_000019" "g.135732562C>T" "" "" "" "CD40LG(NM_000074.2):c.288+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.136650403C>T" "" "likely benign" "" "0000682121" "0" "50" "X" "135741350" "135741350" "subst" "5.60218E-6" "01943" "CD40LG_000020" "g.135741350C>G" "" "" "" "CD40LG(NM_000074.2):c.562C>G (p.P188A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682122" "0" "30" "X" "135741382" "135741382" "subst" "2.80172E-5" "01943" "CD40LG_000021" "g.135741382C>T" "" "" "" "CD40LG(NM_000074.2):c.594C>T (p.P198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728461" "0" "30" "X" "135732500" "135732500" "subst" "2.80445E-5" "01943" "CD40LG_000022" "g.135732500T>C" "" "" "" "CD40LG(NM_000074.2):c.232T>C (p.S78P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728462" "0" "30" "X" "135738515" "135738515" "subst" "0" "01943" "CD40LG_000023" "g.135738515G>A" "" "" "" "CD40LG(NM_000074.2):c.347G>A (p.G116D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915613" "0" "10" "X" "135741472" "135741472" "subst" "0.00264031" "02326" "CD40LG_000024" "g.135741472A>G" "" "" "" "CD40LG(NM_000074.2):c.684A>G (p.V228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000920228" "0" "90" "X" "135732501" "135732502" "delins" "0" "00006" "CD40LG_000025" "g.135732501_135732502delinsAA" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "main disease-related variant" "Germline" "" "" "0" "" "" "g.136650342_136650343delinsAA" "" "pathogenic" "ACMG" "0000920230" "0" "70" "X" "135741283" "135741283" "del" "0" "00006" "CD40LG_000026" "g.135741283del" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "c.495delA" "" "Germline" "" "" "0" "" "" "g.136659124del" "" "likely pathogenic" "ACMG" "0000970766" "0" "10" "X" "135741185" "135741185" "subst" "0.166195" "02327" "CD40LG_000010" "g.135741185T>C" "" "" "" "CD40LG(NM_000074.2):c.410-13T>C, CD40LG(NM_000074.3):c.410-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000970767" "0" "90" "X" "135741372" "135741372" "subst" "0" "02327" "CD40LG_000027" "g.135741372T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027443" "0" "30" "X" "135741443" "135741443" "subst" "0.0112287" "02327" "CD40LG_000002" "g.135741443G>A" "" "" "" "CD40LG(NM_000074.2):c.655G>A (p.G219R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067793" "0" "50" "X" "135730517" "135730517" "subst" "0" "02325" "CD40LG_000028" "g.135730517T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CD40LG ## Count = 32 "{{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}}" "0000011242" "00000943" "30" "1291" "0" "1291" "0" "c.*505del" "r.(?)" "p.(=)" "5" "0000075623" "00000943" "10" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Leu50=)" "1" "0000075624" "00000943" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "5" "0000075625" "00000943" "90" "346" "0" "346" "0" "c.346G>A" "r.[346g>a, 289_346del]" "p.[Val116Met, Asp97Valfs12*]" "3" "0000075626" "00000943" "90" "348" "0" "351" "0" "c.348_351dup" "r.(?)" "p.(Gln118Valfs*5)" "4" "0000075627" "00000943" "90" "782" "0" "788" "0" "c.782_*2del" "r.(?)" "p.(Leu261Glnfs*50)" "5" "0000256184" "00000943" "50" "155" "0" "155" "0" "c.155A>C" "r.(?)" "p.(Lys52Thr)" "" "0000266574" "00000943" "10" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Leu50=)" "" "0000266575" "00000943" "10" "410" "-13" "410" "-13" "c.410-13T>C" "r.(=)" "p.(=)" "" "0000269881" "00000943" "10" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Leu50=)" "" "0000269882" "00000943" "30" "410" "-13" "410" "-13" "c.410-13T>C" "r.(=)" "p.(=)" "" "0000269883" "00000943" "90" "495" "0" "499" "0" "c.495_499del" "r.(?)" "p.(Gln166ThrfsTer33)" "" "0000269884" "00000943" "30" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "" "0000272879" "00000943" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Ala13=)" "" "0000272880" "00000943" "10" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Arg181Gln)" "" "0000272881" "00000943" "30" "601" "0" "601" "0" "c.601T>C" "r.(?)" "p.(Phe201Leu)" "" "0000272882" "00000943" "90" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Thr254Met)" "" "0000335674" "00000943" "50" "590" "0" "590" "0" "c.590C>G" "r.(?)" "p.(Ser197Cys)" "" "0000573770" "00000943" "30" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11Gln)" "" "0000573772" "00000943" "30" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Val163Ile)" "" "0000659101" "00000943" "30" "288" "6" "288" "6" "c.288+6C>T" "r.(=)" "p.(=)" "" "0000682121" "00000943" "50" "562" "0" "562" "0" "c.562C>G" "r.(?)" "p.(Pro188Ala)" "" "0000682122" "00000943" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(Pro198=)" "" "0000728461" "00000943" "30" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Ser78Pro)" "" "0000728462" "00000943" "30" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Gly116Asp)" "" "0000915613" "00000943" "10" "684" "0" "684" "0" "c.684A>G" "r.(?)" "p.(Val228=)" "" "0000920228" "00000943" "90" "233" "0" "234" "0" "c.233_234delinsAA" "r.(?)" "p.(Ser78Ter)" "2" "0000920230" "00000943" "70" "495" "0" "495" "0" "c.495del" "r.(?)" "p.(Arg165SerfsTer26)" "5" "0000970766" "00000943" "10" "410" "-13" "410" "-13" "c.410-13T>C" "r.(=)" "p.(=)" "" "0000970767" "00000943" "90" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Leu195Pro)" "" "0001027443" "00000943" "30" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Arg)" "" "0001067793" "00000943" "50" "110" "0" "110" "0" "c.110T>C" "r.(?)" "p.(Ile37Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000000210" "0000011242" "0000046957" "0000075623" "0000046958" "0000075624" "0000046959" "0000075625" "0000046960" "0000075626" "0000046961" "0000075627" "0000434468" "0000920228" "0000434470" "0000920230"