### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CXorf40A) # 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}}" "CXorf40A" "chromosome X open reading frame 40A" "X" "q28" "unknown" "NC_000023.10" "UD_132319005546" "" "https://www.LOVD.nl/EOLA1" "" "1" "28089" "91966" "300954" "1" "1" "1" "1" "NOTE: gene name changed from CXorf40A to EOLA1\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CXorf40A_codingDNA.html" "1" "" "NOTE: gene name changed from CXorf40A to EOLA1" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2019-12-09 14:57:11" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00000767" "CXorf40A" "transcript variant 1" "002" "NM_178124.4" "" "NP_835225.2" "" "" "" "-580" "1281" "477" "148622519" "148629312" "00000" "2012-09-13 12:51:50" "" "" "00025949" "CXorf40A" "chromosome X open reading frame 40A (CXorf40A), transcript variant 2" "002" "NM_001171907.1" "" "NP_001165378.1" "" "" "" "-599" "1281" "477" "148622519" "148629312" "00006" "2024-10-30 13:40:16" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "" "" "00334790" "" "" "" "14" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00334790" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 01157, 04214 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "0000336019" "00334790" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 28 "{{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}}" "0000007836" "20" "50" "X" "148622730" "148622730" "subst" "0" "00037" "CXorf40A_000010" "g.148622730G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000007837" "20" "50" "X" "148622745" "148622745" "subst" "0" "00037" "CXorf40A_000001" "g.148622745T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149541200=" "" "VUS" "" "0000007838" "20" "50" "X" "148623844" "148623844" "subst" "0" "00037" "CXorf40A_000004" "g.148623844G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149542299=" "" "VUS" "" "0000007839" "20" "50" "X" "148626755" "148626755" "subst" "0" "00037" "CXorf40A_000008" "g.148626755C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149545209=" "" "VUS" "" "0000009995" "20" "50" "X" "148622730" "148622730" "subst" "0" "00037" "CXorf40A_000010" "g.148622730G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000009996" "20" "50" "X" "148622745" "148622745" "subst" "0" "00037" "CXorf40A_000001" "g.148622745T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149541200=" "" "VUS" "" "0000009997" "20" "50" "X" "148623844" "148623844" "subst" "0" "00037" "CXorf40A_000004" "g.148623844G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149542299=" "" "VUS" "" "0000009998" "20" "50" "X" "148626728" "148626728" "subst" "0" "00037" "CXorf40A_000007" "g.148626728G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149545182=" "" "VUS" "" "0000009999" "20" "50" "X" "148626755" "148626755" "subst" "0" "00037" "CXorf40A_000008" "g.148626755C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149545209=" "" "VUS" "" "0000010000" "20" "50" "X" "148627384" "148627384" "subst" "0.97966" "00037" "CXorf40A_000013" "g.148627384A>G" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "" "" "VUS" "" "0000010001" "20" "50" "X" "148628490" "148628490" "subst" "0.983222" "00037" "CXorf40A_000014" "g.148628490A>T" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "" "" "" "" "" "VUS" "" "0000010002" "20" "50" "X" "148632001" "148632001" "subst" "0" "00037" "CXorf40A_000017" "g.148632001C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149550456=" "" "VUS" "" "0000011278" "20" "50" "X" "148629238" "148629238" "dup" "0" "00037" "CXorf40A_000018" "g.148629238dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.149547678dup" "" "VUS" "" "0000274653" "0" "50" "X" "148627415" "148627415" "subst" "0" "01943" "CXorf40A_000022" "g.148627415G>A" "" "" "" "CXorf40A(NM_001171907.3):c.239G>A (p.R80Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149545869G>A" "" "VUS" "" "0000335837" "0" "50" "X" "148627259" "148627259" "subst" "2.80132E-5" "01804" "CXorf40A_000021" "g.148627259G>A" "" "" "" "CXorf40A(NM_001171907.2):c.83G>A (p.(Arg28His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149545713G>A" "" "VUS" "" "0000335838" "0" "30" "X" "148628489" "148628489" "subst" "0.00160919" "01804" "CXorf40A_000023" "g.148628489C>A" "" "" "" "CXorf40A(NM_001171907.2):c.458C>A (p.(Pro153Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.149546943C>A" "" "likely benign" "" "0000574068" "0" "30" "X" "148627337" "148627337" "subst" "0.000190486" "01804" "CXorf40A_000025" "g.148627337G>A" "" "" "" "CXorf40A(NM_001171907.3):c.161G>A (p.(Arg54Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149545791G>A" "" "likely benign" "" "0000574069" "0" "30" "X" "148628335" "148628335" "subst" "0.000560771" "01804" "CXorf40A_000026" "g.148628335G>A" "" "" "" "CXorf40A(NM_001171907.2):c.304G>A (p.(Asp102Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149546789G>A" "" "likely benign" "" "0000574070" "0" "50" "X" "148628489" "148628489" "del" "0" "01943" "CXorf40A_000027" "g.148628489del" "" "" "" "CXorf40A(NM_001324280.1):c.458delC (p.P153Lfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149546943del" "" "VUS" "" "0000574071" "0" "30" "X" "148630961" "148630961" "subst" "0.000659547" "01804" "CXorf40A_000028" "g.148630961A>C" "" "" "" "CXorf40A(NM_001171907.2):c.*2453A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149549416A>C" "" "likely benign" "" "0000619108" "0" "50" "X" "148627360" "148627360" "subst" "5.64016E-6" "01943" "CXorf40A_000029" "g.148627360G>A" "" "" "" "CXorf40A(NM_001324276.1):c.184G>A (p.G62R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149545814G>A" "" "VUS" "" "0000659125" "0" "30" "X" "148631092" "148631092" "subst" "0" "01943" "CXorf40A_000030" "g.148631092G>A" "" "" "" "HSFX3(NM_001323079.1):c.306C>T (p.N102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.149549547G>A" "" "likely benign" "" "0000728511" "0" "30" "X" "148631195" "148631195" "subst" "0" "01943" "CXorf40A_000031" "g.148631195C>G" "" "" "" "HSFX3(NM_001323079.1):c.203G>C (p.R68P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734931" "0" "30" "X" "148632001" "148632001" "subst" "0" "00000" "CXorf40A_000017" "g.148632001C>T" "14/25 families" "{PMID:Maranhao 2015:26352687}" "" "CXorf40A:c.*568+d464C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000809998" "0" "30" "X" "148628290" "148628290" "subst" "4.29971E-5" "01943" "CXorf40A_000032" "g.148628290G>A" "" "" "" "CXorf40A(NM_001324276.1):c.259G>A (p.V87I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867126" "0" "50" "X" "148627335" "148627335" "subst" "0.000100834" "01943" "CXorf40A_000033" "g.148627335G>T" "" "" "" "CXorf40A(NM_001324276.1):c.159G>T (p.W53C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867127" "0" "50" "X" "148631204" "148631204" "subst" "0" "01943" "CXorf40A_000034" "g.148631204C>T" "" "" "" "HSFX3(NM_001323079.1):c.194G>A (p.R65Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984502" "0" "30" "X" "148631034" "148631034" "subst" "0" "01804" "CXorf40A_000035" "g.148631034G>A" "" "" "" "HSFX3(NM_001323079.3):c.364C>T (p.(Arg122Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CXorf40A ## Count = 56 "{{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}}" "0000007836" "00025949" "50" "-388" "0" "-388" "0" "c.-388G>A" "r.(=)" "p.(=)" "" "0000007836" "00000767" "50" "-369" "0" "-369" "0" "c.-369G>A" "r.(?)" "p.(=)" "" "0000007837" "00025949" "50" "-373" "0" "-373" "0" "c.-373T>A" "r.(=)" "p.(=)" "" "0000007837" "00000767" "50" "-354" "0" "-354" "0" "c.-354T>A" "r.(?)" "p.(=)" "" "0000007838" "00025949" "50" "-163" "214" "-163" "214" "c.-163+214G>A" "r.(=)" "p.(=)" "" "0000007838" "00000767" "50" "-163" "233" "-163" "233" "c.-163+233G>A" "r.(=)" "p.(=)" "" "0000007839" "00025949" "50" "-162" "-159" "-162" "-159" "c.-162-159C>G" "r.(=)" "p.(=)" "" "0000007839" "00000767" "50" "-162" "-159" "-162" "-159" "c.-162-159C>G" "r.(=)" "p.(=)" "" "0000009995" "00025949" "50" "-388" "0" "-388" "0" "c.-388G>A" "r.(=)" "p.(=)" "" "0000009995" "00000767" "50" "-369" "0" "-369" "0" "c.-369G>A" "r.(?)" "p.(=)" "" "0000009996" "00025949" "50" "-373" "0" "-373" "0" "c.-373T>A" "r.(=)" "p.(=)" "" "0000009996" "00000767" "50" "-354" "0" "-354" "0" "c.-354T>A" "r.(?)" "p.(=)" "" "0000009997" "00025949" "50" "-163" "214" "-163" "214" "c.-163+214G>A" "r.(=)" "p.(=)" "" "0000009997" "00000767" "50" "-163" "233" "-163" "233" "c.-163+233G>A" "r.(=)" "p.(=)" "" "0000009998" "00025949" "50" "-162" "-186" "-162" "-186" "c.-162-186G>A" "r.(=)" "p.(=)" "" "0000009998" "00000767" "50" "-162" "-186" "-162" "-186" "c.-162-186G>A" "r.(=)" "p.(=)" "" "0000009999" "00025949" "50" "-162" "-159" "-162" "-159" "c.-162-159C>G" "r.(=)" "p.(=)" "" "0000009999" "00000767" "50" "-162" "-159" "-162" "-159" "c.-162-159C>G" "r.(=)" "p.(=)" "" "0000010000" "00025949" "50" "208" "0" "208" "0" "c.208A>G" "r.(?)" "p.(Thr70Ala)" "" "0000010000" "00000767" "50" "208" "0" "208" "0" "c.208A>G" "" "p.(Thr70Ala)" "" "0000010001" "00025949" "50" "459" "0" "459" "0" "c.459A>T" "r.(=)" "p.(=)" "" "0000010001" "00000767" "50" "459" "0" "459" "0" "c.459A>T" "" "p.(=)" "" "0000010002" "00025949" "50" "1281" "2689" "1281" "2689" "c.*3493C>T" "r.(=)" "p.(=)" "" "0000010002" "00000767" "50" "3970" "0" "3970" "0" "c.*3493C>T" "" "p.(=)" "" "0000011278" "00025949" "50" "1207" "0" "1207" "0" "c.*730dup" "r.(=)" "p.(=)" "" "0000011278" "00000767" "50" "1207" "0" "1207" "0" "c.*730dup" "r.(=)" "p.(=)" "" "0000274653" "00025949" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000274653" "00000767" "50" "239" "0" "239" "0" "c.239G>A" "r.(?)" "p.(Arg80Gln)" "" "0000335837" "00025949" "50" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Arg28His)" "" "0000335837" "00000767" "50" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Arg28His)" "" "0000335838" "00025949" "30" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Pro153His)" "" "0000335838" "00000767" "30" "458" "0" "458" "0" "c.458C>A" "r.(?)" "p.(Pro153His)" "" "0000574068" "00025949" "30" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Arg54Gln)" "" "0000574068" "00000767" "30" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Arg54Gln)" "" "0000574069" "00025949" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Asp102Asn)" "" "0000574069" "00000767" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Asp102Asn)" "" "0000574070" "00025949" "50" "458" "0" "458" "0" "c.458del" "r.(?)" "p.(Pro153LeufsTer31)" "" "0000574070" "00000767" "50" "458" "0" "458" "0" "c.458del" "r.(?)" "p.(Pro153LeufsTer31)" "" "0000574071" "00025949" "30" "2930" "0" "2930" "0" "c.*2453A>C" "r.(=)" "p.(=)" "" "0000574071" "00000767" "30" "2930" "0" "2930" "0" "c.*2453A>C" "r.(=)" "p.(=)" "" "0000619108" "00025949" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Arg)" "" "0000619108" "00000767" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Arg)" "" "0000659125" "00025949" "30" "3061" "0" "3061" "0" "c.*2584G>A" "r.(=)" "p.(=)" "" "0000659125" "00000767" "30" "3061" "0" "3061" "0" "c.*2584G>A" "r.(=)" "p.(=)" "" "0000728511" "00025949" "30" "3164" "0" "3164" "0" "c.*2687C>G" "r.(=)" "p.(=)" "" "0000728511" "00000767" "30" "3164" "0" "3164" "0" "c.*2687C>G" "r.(=)" "p.(=)" "" "0000734931" "00025949" "30" "1281" "2689" "1281" "2689" "c.*3493C>T" "r.(=)" "p.(=)" "" "0000734931" "00000767" "30" "3970" "0" "3970" "0" "c.*3493C>T" "r.(=)" "p.(=)" "" "0000809998" "00025949" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Val87Ile)" "" "0000809998" "00000767" "30" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Val87Ile)" "" "0000867126" "00025949" "50" "159" "0" "159" "0" "c.159G>T" "r.(?)" "p.(Trp53Cys)" "" "0000867126" "00000767" "50" "159" "0" "159" "0" "c.159G>T" "r.(?)" "p.(Trp53Cys)" "" "0000867127" "00025949" "50" "3173" "0" "3173" "0" "c.*2696C>T" "r.(=)" "p.(=)" "" "0000867127" "00000767" "50" "3173" "0" "3173" "0" "c.*2696C>T" "r.(=)" "p.(=)" "" "0000984502" "00025949" "30" "3003" "0" "3003" "0" "c.*2526G>A" "r.(=)" "p.(=)" "" "0000984502" "00000767" "30" "3003" "0" "3003" "0" "c.*2526G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000000209" "0000007836" "0000000209" "0000007837" "0000000209" "0000007838" "0000000209" "0000007839" "0000000210" "0000009995" "0000000210" "0000009996" "0000000210" "0000009997" "0000000210" "0000009998" "0000000210" "0000009999" "0000000210" "0000010000" "0000000210" "0000010001" "0000000210" "0000010002" "0000000210" "0000011278" "0000336019" "0000734931"