### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NHEJ1) # 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}}" "NHEJ1" "nonhomologous end-joining factor 1" "2" "q35" "unknown" "NC_000002.11" "UD_132084487613" "" "https://www.LOVD.nl/NHEJ1" "" "1" "25737" "79840" "611290" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/NHEJ1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-08-03 08:55:19" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014545" "NHEJ1" "nonhomologous end-joining factor 1" "001" "NM_024782.2" "" "NP_079058.1" "" "" "" "-146" "1957" "900" "220025587" "219940046" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03019" "-" "immunodeficiency, severe combined, with microcephaly, growth retardation, and sensitivity to ionizing radiation" "" "611291" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-06-15 13:11:44" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" "05608" "SCID" "immunodeficiency, severe combined (SCID)" "" "" "" "" "" "00006" "2019-06-06 16:10:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NHEJ1" "03019" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00210958" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA232" "00292598" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00435477" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04537" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00435480" "" "" "" "1" "" "00006" "{PMID:Buck 2006:16439204}" "2-generation family, 1 affected, unaffected heterozygous parents" "" "no" "France" "18y" "0" "" "" "" "Pat1" "00435481" "" "" "" "1" "" "00006" "{PMID:Buck 2006:16439204}" "2-generation family, 1 affected, unaffected heterozygous parents (1st degree cousins)/relatives, 3 older sisters died from severe infections during first year of life" "" "yes" "Turkey" "04y" "0" "" "" "" "Pat2" "00435482" "" "" "" "2" "" "00006" "{PMID:Buck 2006:16439204}" "2-generation family, 2 affected sibs, unaffected heterozygous parents (1st degree cousins)/relatives" "" "yes" "Turkey" "" "0" "" "" "" "Pat3" "00435483" "" "" "00435482" "1" "" "00006" "{PMID:Buck 2006:16439204}" "sib" "" "yes" "Turkey" "" "0" "" "" "" "Pat4" "00435484" "" "" "" "1" "" "00006" "{PMID:Buck 2006:16439204}" "2-generation family, 1 affected, unaffected heterozygous parents (3rd degree cousins)/relatives" "" "yes" "Italy" "" "0" "" "" "" "Pat5" "00435485" "" "" "" "1" "" "00006" "{PMID:Ahnesorg 2006:16439205}" "" "" "" "" "" "0" "" "" "" "2BN cell line" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00210958" "05484" "00292598" "00198" "00435477" "05608" "00435480" "03019" "00435481" "03019" "00435482" "03019" "00435483" "03019" "00435484" "03019" "00435485" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03019, 05292, 05484, 05608 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000159520" "05484" "00210958" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "" "0000325665" "05608" "00435477" "04537" "Familial, autosomal recessive" "" "Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" "" "" "" "" "" "" "" "" "" "SCID" "" "0000325667" "03019" "00435480" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., 18-y died septic shock; microcephaly; growth retardation; chromosomal alterations, urogenital and bone malformations; bacterial and opportunistic infections; autoimmune anemia, thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000325668" "03019" "00435481" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., 4-y died septic shock; microcephaly; growth retardation; infections bacterial and opportunistic; no autoimmunity" "" "" "" "" "" "" "" "" "" "" "" "0000325669" "03019" "00435482" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., microcephaly; growth retardation; birdlike face, bone malformation; infections bacterial and opportunistic; autoimmune anemia, thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000325670" "03019" "00435483" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., microcephaly; growth retardation; birdlike face; infections bacterial and opportunistic; no autoimmunity" "" "" "" "" "" "" "" "" "" "" "" "0000325671" "03019" "00435484" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., microcephaly; growth retardation; birdlike face, chromosomal alterations, bone marrow aplasia; recurrent respiratory tract infections; no autoimmunity" "" "" "" "" "" "" "" "" "" "" "" "0000325672" "05292" "00435485" "00006" "Unknown" "" "severe combined immunodeficiency, sensitivity to ionizing radiation, no microcephaly, mild developmental delay" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000212036" "00210958" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293766" "00292598" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000436956" "00435477" "1" "04537" "04537" "2023-08-02 14:11:58" "" "" "SEQ-NG" "DNA" "" "" "0000436959" "00435480" "1" "00006" "00006" "2023-08-03 09:19:02" "" "" "SEQ" "DNA" "" "" "0000436960" "00435481" "1" "00006" "00006" "2023-08-03 09:27:50" "" "" "SEQ" "DNA" "" "" "0000436961" "00435482" "1" "00006" "00006" "2023-08-03 09:31:43" "00006" "2023-08-03 09:44:24" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000436962" "00435483" "1" "00006" "00006" "2023-08-03 09:31:43" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000436963" "00435484" "1" "00006" "00006" "2023-08-03 09:48:36" "" "" "SEQ" "DNA" "" "" "0000436964" "00435485" "1" "00006" "00006" "2023-08-03 09:54:47" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000212036" "NHEJ1" "0000436959" "NHEJ1" "0000436960" "NHEJ1" "0000436961" "NHEJ1" "0000436962" "NHEJ1" "0000436963" "NHEJ1" "0000436964" "NHEJ1" ## 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}}" "0000296468" "0" "10" "2" "219941063" "219941063" "subst" "0.708746" "02325" "NHEJ1_000001" "g.219941063G>A" "" "" "" "NHEJ1(NM_024782.3):c.*40C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219076341G>A" "" "benign" "" "0000296469" "0" "10" "2" "220022176" "220022176" "subst" "0.970507" "02325" "NHEJ1_000005" "g.220022176C>T" "" "" "" "NHEJ1(NM_024782.3):c.390+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219157454C>T" "" "benign" "" "0000300033" "0" "10" "2" "220023045" "220023045" "subst" "0.0107476" "02326" "NHEJ1_000006" "g.220023045C>T" "" "" "" "NHEJ1(NM_024782.2):c.40G>A (p.A14T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219158323C>T" "" "benign" "" "0000300034" "0" "10" "2" "219942026" "219942026" "subst" "0.00230254" "02326" "NHEJ1_000003" "g.219942026T>A" "" "" "" "NHEJ1(NM_024782.2):c.767A>T (p.Q256L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219077304T>A" "" "benign" "" "0000300035" "0" "10" "2" "219941939" "219941939" "subst" "0.0154258" "02326" "NHEJ1_000002" "g.219941939C>T" "" "" "" "NHEJ1(NM_024782.2):c.825+29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219077217C>T" "" "benign" "" "0000304116" "0" "30" "2" "220012457" "220012457" "subst" "0.000462963" "01943" "NHEJ1_000004" "g.220012457T>G" "" "" "" "NHEJ1(NM_024782.2):c.451A>C (p.R151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219147735T>G" "" "likely benign" "" "0000344631" "0" "90" "2" "220011416" "220011416" "subst" "0" "02327" "NHEJ1_000007" "g.220011416G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219146694G>A" "" "pathogenic" "" "0000443677" "3" "90" "2" "220011458" "220011458" "subst" "8.1248E-6" "00006" "NHEJ1_000008" "g.220011458G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.219146736G>A" "" "pathogenic (recessive)" "" "0000514682" "0" "30" "2" "220011421" "220011421" "subst" "0" "01943" "NHEJ1_000009" "g.220011421A>G" "" "" "" "NHEJ1(NM_024782.2):c.569T>C (p.L190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219146699A>G" "" "likely benign" "" "0000514683" "0" "30" "2" "220022326" "220022326" "subst" "0.000617424" "02326" "NHEJ1_000010" "g.220022326G>A" "" "" "" "NHEJ1(NM_024782.2):c.258C>T (p.D86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219157604G>A" "" "likely benign" "" "0000514684" "0" "30" "2" "220023028" "220023028" "subst" "0.000544211" "01943" "NHEJ1_000011" "g.220023028T>C" "" "" "" "NHEJ1(NM_024782.2):c.57A>G (p.A19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219158306T>C" "" "likely benign" "" "0000607504" "0" "30" "2" "220011430" "220011430" "subst" "0.000763601" "01943" "NHEJ1_000013" "g.220011430T>C" "" "" "" "NHEJ1(NM_024782.2):c.560A>G (p.N187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219146708T>C" "" "likely benign" "" "0000650455" "1" "70" "2" "220022193" "220022193" "subst" "0" "03575" "NHEJ1_000014" "g.220022193C>G" "18/2647 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs786205547}" "Germline" "" "rs786205547" "0" "" "" "g.219157471C>G" "" "likely pathogenic" "" "0000688653" "0" "30" "2" "219942093" "219942093" "subst" "0.000414196" "02326" "NHEJ1_000015" "g.219942093T>A" "" "" "" "NHEJ1(NM_024782.2):c.707-7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718504" "0" "30" "2" "220011430" "220011430" "subst" "0.000763601" "02326" "NHEJ1_000013" "g.220011430T>C" "" "" "" "NHEJ1(NM_024782.2):c.560A>G (p.N187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800396" "0" "30" "2" "219941190" "219941190" "subst" "0.000218193" "02326" "NHEJ1_000016" "g.219941190G>A" "" "" "" "NHEJ1(NM_024782.2):c.826-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800397" "0" "30" "2" "220023028" "220023028" "subst" "0.000544211" "02326" "NHEJ1_000011" "g.220023028T>C" "" "" "" "NHEJ1(NM_024782.2):c.57A>G (p.A19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858353" "0" "50" "2" "220025436" "220025436" "subst" "0" "01943" "NHEJ1_000017" "g.220025436A>G" "" "" "" "NHEJ1(NM_024782.2):c.-1+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000884905" "0" "30" "2" "219942046" "219942046" "subst" "9.33987E-5" "02326" "NHEJ1_000018" "g.219942046G>A" "" "" "" "NHEJ1(NM_024782.2):c.747C>T (p.I249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000884906" "0" "50" "2" "220022327" "220022327" "subst" "0" "02325" "NHEJ1_000019" "g.220022327T>A" "" "" "" "NHEJ1(NM_024782.3):c.257A>T (p.D86V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923624" "0" "30" "2" "220022321" "220022321" "subst" "0" "02326" "NHEJ1_000020" "g.220022321G>A" "" "" "" "NHEJ1(NM_024782.2):c.263C>T (p.A88V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931678" "3" "90" "2" "220022352" "220022352" "dup" "0" "04537" "NHEJ1_000021" "g.220022352dup" "" "" "" "3237_3238insT" "" "Germline" "" "" "0" "" "" "g.219157630dup" "" "likely pathogenic (recessive)" "" "0000931682" "1" "90" "2" "220022916" "220022916" "subst" "4.06134E-6" "00006" "NHEJ1_000022" "g.220022916G>C" "" "{PMID:Buck 2006:16439204}" "" "C259G" "" "Germline" "" "" "0" "" "" "g.219158194G>C" "" "pathogenic (recessive)" "" "0000931683" "2" "90" "2" "220022217" "220022217" "subst" "4.06448E-6" "00006" "NHEJ1_000023" "g.220022217A>G" "" "{PMID:Buck 2006:16439204}" "" "T457C" "" "Germline" "" "" "0" "" "" "g.219157495A>G" "" "pathogenic (recessive)" "" "0000931684" "3" "90" "2" "220011458" "220011458" "subst" "8.1248E-6" "00006" "NHEJ1_000008" "g.220011458G>A" "" "{PMID:Buck 2006:16439204}" "" "C622T" "" "Germline" "" "" "0" "" "" "g.219146736G>A" "" "pathogenic (recessive)" "" "0000931685" "3" "90" "2" "220022905" "220022907" "delins" "0" "00006" "NHEJ1_000024" "g.220022905_220022907delinsAA" "" "{PMID:Buck 2006:16439204}" "" "G267del, +3A>T" "" "Germline" "yes" "" "0" "" "" "g.219158183_219158185delinsAA" "" "pathogenic (recessive)" "" "0000931686" "3" "90" "2" "220022905" "220022907" "delins" "0" "00006" "NHEJ1_000024" "g.220022905_220022907delinsAA" "" "{PMID:Buck 2006:16439204}" "" "G267del, +3A>T" "" "Germline" "yes" "" "0" "" "" "g.219158183_219158185delinsAA" "" "pathogenic (recessive)" "" "0000931687" "3" "90" "2" "220022916" "220022916" "subst" "4.06134E-6" "00006" "NHEJ1_000022" "g.220022916G>C" "" "{PMID:Buck 2006:16439204}" "" "C259G" "" "Germline" "" "" "0" "" "" "g.219158194G>C" "" "pathogenic (recessive)" "" "0000931688" "3" "70" "2" "220023074" "220023074" "dup" "0" "00006" "NHEJ1_000025" "g.220023074dup" "" "{PMID:Ahnesorg 2006:16439205}" "" "" "variant suggested to give donwstream translation re-initiation" "Germline" "" "" "0" "" "" "g.219158352dup" "" "likely pathogenic" "" "0000961897" "0" "90" "2" "220012495" "220012495" "subst" "0" "02327" "NHEJ1_000026" "g.220012495G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974986" "0" "50" "2" "220027067" "220027067" "subst" "1.62491E-5" "01804" "NHEJ1_000027" "g.220027067G>T" "" "" "" "SLC23A3(NM_001144889.2):c.1491C>A (p.(Ile497=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051075" "0" "30" "2" "219942790" "219942790" "subst" "8.53027E-5" "01804" "NHEJ1_000028" "g.219942790G>A" "" "" "" "NHEJ1(NM_001377499.1):c.721+6C>T" "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 NHEJ1 ## 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}}" "0000296468" "00014545" "10" "940" "0" "940" "0" "c.*40C>T" "r.(=)" "p.(=)" "" "0000296469" "00014545" "10" "390" "18" "390" "18" "c.390+18G>A" "r.(=)" "p.(=)" "" "0000300033" "00014545" "10" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Ala14Thr)" "" "0000300034" "00014545" "10" "767" "0" "767" "0" "c.767A>T" "r.(?)" "p.(Gln256Leu)" "" "0000300035" "00014545" "10" "825" "29" "825" "29" "c.825+29G>A" "r.(=)" "p.(=)" "" "0000304116" "00014545" "30" "451" "0" "451" "0" "c.451A>C" "r.(?)" "p.(Arg151=)" "" "0000344631" "00014545" "90" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Gln192Ter)" "" "0000443677" "00014545" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178*)" "" "0000514682" "00014545" "30" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Leu190Ser)" "" "0000514683" "00014545" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Asp86=)" "" "0000514684" "00014545" "30" "57" "0" "57" "0" "c.57A>G" "r.(?)" "p.(Ala19=)" "" "0000607504" "00014545" "30" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Asn187Ser)" "" "0000650455" "00014545" "70" "390" "1" "390" "1" "c.390+1G>C" "r.spl?" "p.?" "" "0000688653" "00014545" "30" "707" "-7" "707" "-7" "c.707-7A>T" "r.(=)" "p.(=)" "" "0000718504" "00014545" "30" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Asn187Ser)" "" "0000800396" "00014545" "30" "826" "-13" "826" "-13" "c.826-13C>T" "r.(=)" "p.(=)" "" "0000800397" "00014545" "30" "57" "0" "57" "0" "c.57A>G" "r.(?)" "p.(Ala19=)" "" "0000858353" "00014545" "50" "-1" "6" "-1" "6" "c.-1+6T>C" "r.(=)" "p.(=)" "" "0000884905" "00014545" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Ile249=)" "" "0000884906" "00014545" "50" "257" "0" "257" "0" "c.257A>T" "r.(?)" "p.(Asp86Val)" "" "0000923624" "00014545" "30" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ala88Val)" "" "0000931678" "00014545" "90" "233" "0" "233" "0" "c.233dup" "r.(233dup)" "p.(Asn78LysfsTer14)" "" "0000931682" "00014545" "90" "169" "0" "169" "0" "c.169C>G" "r.(?)" "p.(Arg57Gly)" "2" "0000931683" "00014545" "90" "367" "0" "367" "0" "c.367T>C" "r.(?)" "p.(Cys123Arg)" "3" "0000931684" "00014545" "90" "532" "0" "532" "0" "c.532C>T" "r.(?)" "p.(Arg178*)" "" "0000931685" "00014545" "90" "177" "1" "177" "3" "c.177+1_177+3delinsTT" "r.[177del, 55_177del,?]" "p.[Glu60Serfs*2,Ala19_Lys59del,?]" "2i" "0000931686" "00014545" "90" "177" "1" "177" "3" "c.177+1_177+3delinsTT" "r.[177del, 55_177del,?]" "p.[Glu60Serfs*2,Ala19_Lys59del,?]" "2i" "0000931687" "00014545" "90" "169" "0" "169" "0" "c.169C>G" "r.(?)" "p.(Arg57Gly)" "2" "0000931688" "00014545" "70" "11" "0" "11" "0" "c.11dup" "r.(?)" "p.?" "" "0000961897" "00014545" "90" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Pro138Leu)" "" "0000974986" "00014545" "50" "-1626" "0" "-1626" "0" "c.-1626C>A" "r.(?)" "p.(=)" "" "0001051075" "00014545" "30" "706" "21" "706" "21" "c.706+21C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000212036" "0000443677" "0000293766" "0000650455" "0000436956" "0000931678" "0000436959" "0000931682" "0000436959" "0000931683" "0000436960" "0000931684" "0000436961" "0000931685" "0000436962" "0000931686" "0000436963" "0000931687" "0000436964" "0000931688"