### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFV1) # 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}}" "NDUFV1" "NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa" "11" "q13" "unknown" "NG_013353.1" "UD_132119112943" "" "https://www.LOVD.nl/NDUFV1" "" "1" "7716" "4723" "161015" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/NDUFV1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-04 17:13:57" "00000" "2025-05-05 21:14:00" ## 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}}" "00014440" "NDUFV1" "transcript variant 1" "001" "NM_007103.3" "" "NP_009034.2" "" "" "" "-153" "1478" "1395" "67374323" "67380012" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00038" "LS" "Leigh syndrome (LS)" "AR;Mi" "256000" "" "" "" "00008" "2012-08-30 16:26:44" "00006" "2025-01-31 09:48:07" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00611" "MC1DN" "mitochondrial complex I deficiency, nuclear (MC1DN)" "AR" "252010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05163" "-" "mitochondrial respiratory chain deficiency" "" "" "" "" "" "00006" "2016-05-10 22:28:03" "00006" "2016-12-16 10:26:08" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" "06131" "MC1DN4" "Mi complex I deficiency, nuclear type 4" "AR" "618225" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "NDUFV1" "00139" "NDUFV1" "00611" "NDUFV1" "06131" ## 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}}" "00004539" "" "" "" "1" "" "00592" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00081067" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00117195" "" "" "" "1" "" "01906" "" "" "F" "" "" "" "0" "" "" "" "" "00274147" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "no family history" "M" "" "Poland" "" "0" "" "" "" "Pat10" "00290506" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00324457" "" "" "" "1" "" "00006" "{PMID:Lieber 2013:23596069}" "" "F" "" "United States" "" "0" "" "" "" "Pat1004" "00427994" "" "" "" "2" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 2 affected (F, M)" "" "" "Australia" "" "0" "" "" "" "A085" "00454697" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "M" "" "" "" "0" "" "" "" "NGSP109" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00004539" "00038" "00081067" "00611" "00117195" "05163" "00274147" "00198" "00290506" "00198" "00324457" "00198" "00427994" "00198" "00454697" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00038, 00139, 00198, 00611, 05163, 05534, 06131 ## Count = 7 "{{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}}" "0000003236" "00038" "00004539" "00592" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060636" "00611" "00081067" "01758" "Familial, autosomal recessive" "" "m complex I deficiency (OMIM:252010)" "" "" "" "" "" "" "" "" "" "" "" "0000092441" "05163" "00117195" "01906" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000209092" "00198" "00274147" "00006" "Familial, autosomal recessive" "" "involvement basal ganglia; mitochondrial disease criteria score 5; muscle biopsy" "" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000243001" "00198" "00324457" "00006" "Familial, autosomal recessive" "" "stroke, exercise intolerance, dyspnea, leukodystrophy, headache" "01y" "" "" "" "" "" "" "" "" "" "" "0000318940" "00198" "00427994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000343325" "05534" "00454697" "00095" "Familial, autosomal recessive" "" "psycomotor regression, dystonia, leukoencephalopathy" "<1y" "" "" "" "" "" "" "" "" "complex I deficiency" "" ## 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}}" "0000004453" "00004539" "1" "00592" "00592" "2014-01-31 00:10:48" "" "" "DSCA" "DNA" "Blood" "" "0000081179" "00081067" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117655" "00117195" "1" "01906" "01906" "2017-08-12 20:44:19" "" "" "SEQ" "DNA" "" "" "0000275302" "00274147" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000291674" "00290506" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325649" "00324457" "1" "00006" "00006" "2020-12-14 09:25:04" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000429407" "00427994" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "duo WES" "0000456310" "00454697" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000004453" "NDUFV1" "0000081179" "NDUFV1" "0000117655" "NDUFV1" "0000275302" "NDUFV1" "0000325649" "NDUFV1" ## 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 = 30 "{{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}}" "0000023437" "0" "75" "11" "67378889" "67378889" "subst" "4.06643E-6" "00592" "NDUFV1_000001" "g.67378889G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.67611418G>T" "" "likely pathogenic" "" "0000023438" "0" "75" "11" "67379040" "67379040" "subst" "2.71483E-5" "00592" "NDUFV1_000002" "g.67379040G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.67611569G>A" "" "likely pathogenic" "" "0000130265" "3" "90" "11" "67379696" "67379696" "subst" "1.21911E-5" "01758" "NDUFV1_000003" "g.67379696C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.67612225C>T" "" "pathogenic" "ACMG" "0000188622" "0" "90" "11" "67379696" "67379696" "subst" "1.21911E-5" "01906" "NDUFV1_000003" "g.67379696C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.67612225C>T" "" "pathogenic" "" "0000296401" "0" "50" "11" "67378883" "67378883" "subst" "8.14014E-6" "02325" "NDUFV1_000005" "g.67378883C>A" "" "" "" "NDUFV1(NM_007103.4):c.923C>A (p.T308K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67611412C>A" "" "VUS" "" "0000302963" "0" "50" "11" "67375937" "67375937" "subst" "0" "01943" "NDUFV1_000004" "g.67375937G>A" "" "" "" "NDUFV1(NM_007103.3):c.143G>A (p.R48H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67608466G>A" "" "VUS" "" "0000545393" "0" "30" "11" "67379025" "67379025" "subst" "3.45232E-5" "01943" "NDUFV1_000006" "g.67379025C>T" "" "" "" "NDUFV1(NM_007103.3):c.1065C>T (p.I355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67611554C>T" "" "likely benign" "" "0000629266" "11" "90" "11" "67378498" "67378498" "subst" "1.62438E-5" "00006" "NDUFV1_000008" "g.67378498G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "high genotype/phenotype correlation" "Germline" "" "" "0" "" "" "g.67611027G>A" "" "pathogenic" "" "0000629334" "21" "90" "11" "67376979" "67376979" "subst" "0" "00006" "NDUFV1_000007" "g.67376979G>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "" "" "Germline" "" "" "0" "" "" "g.67609508G>T" "" "pathogenic" "" "0000648363" "1" "70" "11" "67377936" "67377936" "subst" "0.000556296" "03575" "NDUFV1_000009" "g.67377936C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201289242}" "Germline" "" "rs201289242" "0" "" "" "g.67610465C>T" "" "likely pathogenic" "" "0000679308" "0" "50" "11" "67378931" "67378931" "subst" "0" "01804" "NDUFV1_000010" "g.67378931C>T" "" "" "" "NDUFV1(NM_001166102.1):c.944C>T (p.(Thr315Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679309" "0" "30" "11" "67378936" "67378936" "subst" "4.0654E-6" "01943" "NDUFV1_000011" "g.67378936C>G" "" "" "" "NDUFV1(NM_007103.3):c.976C>G (p.L326V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691157" "0" "50" "11" "67376033" "67376033" "subst" "5.68477E-5" "01943" "NDUFV1_000012" "g.67376033T>C" "" "" "" "NDUFV1(NM_007103.3):c.166T>C (p.S56P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691158" "0" "50" "11" "67376043" "67376043" "subst" "1.62422E-5" "01943" "NDUFV1_000013" "g.67376043G>A" "" "" "" "NDUFV1(NM_007103.3):c.176G>A (p.R59Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691159" "0" "30" "11" "67378926" "67378926" "subst" "0.000109759" "01943" "NDUFV1_000014" "g.67378926G>A" "" "" "" "NDUFV1(NM_007103.3):c.966G>A (p.S322=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000708777" "0" "70" "11" "67376961" "67376961" "subst" "2.85125E-5" "00006" "NDUFV1_000015" "g.67376961C>T" "" "{PMID:Lieber 2013:23596069}" "" "338C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000708778" "2" "70" "11" "67377095" "67377095" "del" "0" "00006" "NDUFV1_000016" "g.67377095del" "" "{PMID:Lieber 2013:23596069}" "" "472delT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000723654" "0" "30" "11" "67376944" "67376944" "subst" "0.000440986" "01943" "NDUFV1_000017" "g.67376944C>T" "" "" "" "NDUFV1(NM_007103.3):c.348C>T (p.N116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723655" "0" "50" "11" "67378978" "67378978" "subst" "0" "01943" "NDUFV1_000018" "g.67378978G>A" "" "" "" "NDUFV1(NM_007103.3):c.1018G>A (p.D340N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805333" "0" "30" "11" "67379866" "67379866" "subst" "0.000276735" "01943" "NDUFV1_000019" "g.67379866G>A" "" "" "" "NDUFV1(NM_007103.3):c.1332G>A (p.P444=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890117" "0" "70" "11" "67377948" "67377948" "subst" "0" "02327" "NDUFV1_000020" "g.67377948G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000908880" "0" "50" "11" "67379846" "67379846" "subst" "0.000187257" "00006" "NDUFV1_000021" "g.67379846C>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "De novo" "" "" "0" "" "" "g.67612375C>A" "" "VUS" "" "0000979788" "0" "90" "11" "67378982" "67378982" "subst" "2.04797E-5" "01804" "NDUFV1_000022" "g.67378982C>T" "" "" "" "NDUFV1(NM_007103.4):c.1022C>T (p.(Ala341Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979789" "0" "50" "11" "67379033" "67379033" "subst" "0" "01804" "NDUFV1_000023" "g.67379033A>G" "" "" "" "NDUFV1(NM_007103.4):c.1073A>G (p.(Asp358Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979790" "0" "30" "11" "67379459" "67379459" "subst" "4.06461E-6" "01804" "NDUFV1_000024" "g.67379459G>A" "" "" "" "NDUFV1(NM_007103.4):c.1162+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979791" "0" "50" "11" "67379641" "67379641" "subst" "5.6875E-5" "01804" "NDUFV1_000025" "g.67379641C>T" "" "" "" "NDUFV1(NM_007103.4):c.1213C>T (p.(Arg405Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001008556" "3" "90" "11" "67379443" "67379443" "subst" "0.000113748" "00095" "NDUFV1_000026" "g.67379443C>T" "" "{PMID:Legati 2016:26968897}" "" "R386C" "" "Germline" "" "" "0" "" "" "g.67611972C>T" "" "pathogenic" "" "0001038667" "0" "50" "11" "67377048" "67377048" "subst" "8.2093E-6" "01804" "NDUFV1_000027" "g.67377048C>T" "" "" "" "NDUFV1(NM_007103.4):c.452C>T (p.(Ala151Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038668" "0" "50" "11" "67377890" "67377890" "subst" "0" "01804" "NDUFV1_000028" "g.67377890C>T" "" "" "" "NDUFV1(NM_007103.4):c.549C>T (p.(Gly183=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038669" "0" "50" "11" "67379846" "67379846" "subst" "0.000187257" "01804" "NDUFV1_000021" "g.67379846C>A" "" "" "" "NDUFV1(NM_007103.4):c.1312C>A (p.(Leu438Met))" "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 NDUFV1 ## Count = 30 "{{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}}" "0000023437" "00014440" "75" "929" "0" "929" "0" "c.929G>T" "r.(?)" "p.(Gly310Val)" "7" "0000023438" "00014440" "75" "1080" "0" "1080" "0" "c.1080G>A" "r.(spl?)" "p.(?)" "7" "0000130265" "00014440" "90" "1268" "0" "1268" "0" "c.1268C>T" "r.(?)" "p.(Thr423Met)" "" "0000188622" "00014440" "90" "1268" "0" "1268" "0" "c.1268C>T" "r.(?)" "p.(Thr423Met)" "" "0000296401" "00014440" "50" "923" "0" "923" "0" "c.923C>A" "r.(?)" "p.(Thr308Lys)" "" "0000302963" "00014440" "50" "143" "0" "143" "0" "c.143G>A" "r.(?)" "p.(Arg48His)" "" "0000545393" "00014440" "30" "1065" "0" "1065" "0" "c.1065C>T" "r.(?)" "p.(Ile355=)" "" "0000629266" "00014440" "90" "733" "0" "733" "0" "c.733G>A" "r.(?)" "p.(Val245Met)" "" "0000629334" "00014440" "90" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Arg128Leu)" "" "0000648363" "00014440" "70" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199Cys)" "" "0000679308" "00014440" "50" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Thr324Ile)" "" "0000679309" "00014440" "30" "976" "0" "976" "0" "c.976C>G" "r.(?)" "p.(Leu326Val)" "" "0000691157" "00014440" "50" "166" "0" "166" "0" "c.166T>C" "r.(?)" "p.(Ser56Pro)" "" "0000691158" "00014440" "50" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59Gln)" "" "0000691159" "00014440" "30" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Ser322=)" "" "0000708777" "00014440" "70" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Pro122Leu)" "" "0000708778" "00014440" "70" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Ser167Profs*15)" "" "0000723654" "00014440" "30" "348" "0" "348" "0" "c.348C>T" "r.(?)" "p.(Asn116=)" "" "0000723655" "00014440" "50" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Asp340Asn)" "" "0000805333" "00014440" "30" "1332" "0" "1332" "0" "c.1332G>A" "r.(?)" "p.(Pro444=)" "" "0000890117" "00014440" "70" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Ala203Thr)" "" "0000908880" "00014440" "50" "1312" "0" "1312" "0" "c.1312C>A" "r.1312c>a" "p.Leu438Met" "" "0000979788" "00014440" "90" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Ala341Val)" "" "0000979789" "00014440" "50" "1073" "0" "1073" "0" "c.1073A>G" "r.(?)" "p.(Asp358Gly)" "" "0000979790" "00014440" "30" "1162" "10" "1162" "10" "c.1162+10G>A" "r.(=)" "p.(=)" "" "0000979791" "00014440" "50" "1213" "0" "1213" "0" "c.1213C>T" "r.(?)" "p.(Arg405Trp)" "" "0001008556" "00014440" "90" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Cys)" "" "0001038667" "00014440" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ala151Val)" "" "0001038668" "00014440" "50" "549" "0" "549" "0" "c.549C>T" "r.(?)" "p.(=)" "" "0001038669" "00014440" "50" "1312" "0" "1312" "0" "c.1312C>A" "r.(?)" "p.(Leu438Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000004453" "0000023437" "0000004453" "0000023438" "0000081179" "0000130265" "0000117655" "0000188622" "0000275302" "0000629266" "0000275302" "0000629334" "0000291674" "0000648363" "0000325649" "0000708777" "0000325649" "0000708778" "0000429407" "0000908880" "0000456310" "0001008556"