### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ETHE1) # 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}}" "ETHE1" "ethylmalonic encephalopathy 1" "19" "q13.32" "unknown" "NC_000019.9" "UD_132118548838" "" "https://www.LOVD.nl/ETHE1" "" "1" "23287" "23474" "608451" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-09-26 11:07:53" "00006" "2025-09-26 11:11:54" ## 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}}" "00007267" "ETHE1" "ethylmalonic encephalopathy 1" "001" "NM_014297.3" "" "NP_055112.2" "" "" "" "-67" "896" "765" "44031396" "44010871" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02426" "EE" "ethylmalonic encephalopathy" "AR" "602473" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ETHE1" "00139" "ETHE1" "02426" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00035712" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035713" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035714" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035715" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035716" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035717" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080947" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00292145" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292146" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292147" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296595" "" "" "" "2" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "2 affected" "M" "" "Turkey" "" "0" "" "" "" "Pat28" "00466856" "" "" "" "2" "" "04901" "" "2 affected (2M), unaffected carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "South asian" "NDAR03-1" "00466857" "" "" "00466856" "1" "" "04901" "" "sib" "M" "yes" "Pakistan" "" "0" "" "" "Asia-S" "NDAR03-2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00035712" "00198" "00035713" "00198" "00035714" "00198" "00035715" "00198" "00035716" "00198" "00035717" "00198" "00080947" "02426" "00292145" "00198" "00292146" "00198" "00292147" "00198" "00296595" "00198" "00466856" "02426" "00466857" "02426" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02426 ## Count = 10 "{{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}}" "0000060516" "02426" "00080947" "01758" "Familial, autosomal recessive" "" "Ethylmalonic encephalopathy (OMIM:602473)" "" "" "" "" "" "" "" "" "" "" "" "0000156233" "00198" "00035712" "01164" "Unknown" "" "Brother: Ethylmalonacid-enzephalopathy" "" "" "" "" "" "" "" "" "" "encephalopathy?" "" "0000156234" "00198" "00035713" "01164" "Unknown" "" "Brother: Ethylmalonacid-enzephalopathy" "" "" "" "" "" "" "" "" "" "encephalopathy?" "" "0000156235" "00198" "00035714" "01164" "Unknown" "" "suspected familiar ataxia type II" "" "" "" "" "" "" "" "" "" "ataxia" "" "0000156236" "00198" "00035715" "01164" "Unknown" "" "Brother: Ethylmalonacid-enzephalopathy" "" "" "" "" "" "" "" "" "" "encephalopathy?" "" "0000156237" "00198" "00035716" "01164" "Unknown" "" "Ethylmalonacid-enzephalopathy" "" "" "" "" "" "" "" "" "" "encephalopathy" "" "0000156238" "00198" "00035717" "01164" "Unknown" "" "Ethylmalonacid-enzephalopathy" "" "" "" "" "" "" "" "" "" "encephalopathy" "" "0000224001" "00198" "00296595" "00006" "Isolated (sporadic)" "7y" "muscle affected; central nervous system affected; heart not affected; liver not affected; lactic acidosis" "4y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000352220" "02426" "00466856" "04901" "Familial, autosomal recessive" "17y" "intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), aggression" "00y06m" "18y" "" "" "" "" "" "" "EE (OMIM#602473)" "" "" "0000352221" "02426" "00466857" "04901" "Familial, autosomal recessive" "08y" "Intellectual disability (HP:0010864), Muscular hypotonia (HP:0001252), facial dysmorphism (HP:0001999), and , delayed global milestones(HP:0001263), seizures" "00y06m" "09y" "" "" "" "" "" "" "EE (OMIM#602473)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035782" "00035712" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035783" "00035713" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035784" "00035714" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035785" "00035715" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035786" "00035716" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035787" "00035717" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000081059" "00080947" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293313" "00292145" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293314" "00292146" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293315" "00292147" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297705" "00296595" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000468520" "00466856" "1" "04901" "04901" "2025-09-24 20:55:11" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "WES" "0000468521" "00466857" "1" "04901" "04901" "2025-09-24 21:13:00" "" "" "PCR;SEQ;SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000035782" "ETHE1" "0000035783" "ETHE1" "0000035784" "ETHE1" "0000035785" "ETHE1" "0000035786" "ETHE1" "0000035787" "ETHE1" "0000081059" "ETHE1" ## 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 = 24 "{{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}}" "0000062907" "1" "10" "19" "44012880" "44012880" "subst" "0.698744" "01164" "ETHE1_000001" "g.44012880A>G" "" "" "" "" "" "Germline" "" "rs2682578" "0" "" "" "g.43508728A>G" "" "benign" "" "0000062908" "1" "50" "19" "44012005" "44012005" "subst" "0" "01164" "ETHE1_000006" "g.44012005G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43507853G>A" "" "VUS" "" "0000062909" "1" "90" "19" "44012936" "44012936" "subst" "2.60657E-5" "01164" "ETHE1_000002" "g.44012936C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43508784C>T" "" "pathogenic" "" "0000062910" "1" "50" "19" "44012023" "44012023" "subst" "0" "01164" "ETHE1_000005" "g.44012023T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.43507871T>C" "" "VUS" "" "0000062911" "1" "10" "19" "44031324" "44031324" "subst" "0.157342" "01164" "ETHE1_000004" "g.44031324C>T" "" "" "" "" "" "Germline" "" "rs38110381" "0" "" "" "g.43527172C>T" "" "benign" "" "0000062912" "1" "50" "19" "44030465" "44030465" "subst" "0" "01164" "ETHE1_000003" "g.44030465G>A" "" "" "" "" "Polyphen-2: benign (PSIC: 0,407), Shift:tolerated" "Germline" "" "" "0" "" "" "g.43526313G>A" "" "VUS" "" "0000130145" "3" "90" "19" "44012931" "44012931" "dup" "0" "01758" "ETHE1_000007" "g.44012931dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.43508779dup" "" "pathogenic" "ACMG" "0000267901" "0" "10" "19" "44031324" "44031324" "subst" "0.157342" "02325" "ETHE1_000004" "g.44031324C>T" "" "" "" "ETHE1(NM_014297.5):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43527172C>T" "" "benign" "" "0000326585" "0" "50" "19" "44008270" "44008270" "subst" "1.49073E-5" "01804" "PHLDB3_000005" "g.44008270T>C" "" "" "" "PHLDB3(NM_198850.3):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43504118T>C" "" "VUS" "" "0000567581" "0" "70" "19" "44015607" "44015607" "subst" "2.03049E-5" "01943" "ETHE1_000009" "g.44015607G>A" "" "" "" "ETHE1(NM_014297.4):c.487C>T (p.R163W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43511455G>A" "" "likely pathogenic" "" "0000567582" "0" "50" "19" "44015619" "44015619" "subst" "2.03047E-5" "01943" "ETHE1_000010" "g.44015619G>A" "" "" "" "ETHE1(NM_014297.4):c.475C>T (p.R159C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43511467G>A" "" "VUS" "" "0000567583" "0" "30" "19" "44030709" "44030709" "subst" "0.000310174" "01943" "ETHE1_000011" "g.44030709C>T" "" "" "" "ETHE1(NM_014297.4):c.184G>A (p.A62T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43526557C>T" "" "likely benign" "" "0000617662" "0" "30" "19" "44012121" "44012121" "subst" "0" "01943" "ETHE1_000013" "g.44012121C>A" "" "" "" "ETHE1(NM_014297.4):c.687G>T (p.L229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43507969C>A" "" "likely benign" "" "0000617663" "0" "50" "19" "44015619" "44015619" "subst" "2.03047E-5" "02327" "ETHE1_000010" "g.44015619G>A" "" "" "" "ETHE1(NM_014297.4):c.475C>T (p.R159C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43511467G>A" "" "VUS" "" "0000617664" "0" "90" "19" "44030765" "44030766" "del" "0" "02327" "ETHE1_000014" "g.44030765_44030766del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43526613_43526614del" "" "pathogenic" "" "0000650002" "1" "50" "19" "44015618" "44015618" "subst" "9.33987E-5" "03575" "ETHE1_000015" "g.44015618C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs768669208}" "Germline" "" "rs768669208" "0" "" "" "g.43511466C>T" "" "VUS" "" "0000650003" "1" "50" "19" "44030450" "44030450" "subst" "0.000463513" "03575" "ETHE1_000016" "g.44030450G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs199827754}" "Germline" "" "rs199827754" "0" "" "" "g.43526298G>A" "" "VUS" "" "0000650004" "1" "90" "19" "44031327" "44031327" "subst" "0" "03575" "ETHE1_000017" "g.44031327C>A" "1/2776 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs119103249}" "Germline" "" "rs119103249" "0" "" "" "g.43527175C>A" "" "pathogenic" "" "0000660314" "3" "90" "19" "44031327" "44031327" "subst" "0" "00006" "ETHE1_000017" "g.44031327C>A" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.43527175C>A" "" "pathogenic (recessive)" "" "0000692821" "0" "70" "19" "44015588" "44015588" "subst" "0" "01943" "ETHE1_000018" "g.44015588C>G" "" "" "" "ETHE1(NM_014297.4):c.505+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727412" "0" "50" "19" "44015618" "44015618" "subst" "9.33987E-5" "01943" "ETHE1_000015" "g.44015618C>T" "" "" "" "ETHE1(NM_014297.4):c.476G>A (p.R159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983511" "0" "50" "19" "44030450" "44030450" "subst" "0.000463513" "01804" "ETHE1_000016" "g.44030450G>A" "" "" "" "ETHE1(NM_014297.5):c.278C>T (p.(Ser93Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048367" "3" "70" "19" "44013013" "44013013" "subst" "0" "04901" "ETHE1_000019" "g.44013013C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.43508861C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048368" "3" "70" "19" "44013013" "44013013" "subst" "0" "04901" "ETHE1_000019" "g.44013013C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.43508861C>T" "" "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 ETHE1 ## Count = 24 "{{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}}" "0000062907" "00007267" "10" "595" "47" "595" "47" "c.595+47T>C" "r.(=)" "p.(=)" "" "0000062908" "00007267" "50" "712" "91" "712" "91" "c.712+91C>T" "r.(=)" "p.(=)" "" "0000062909" "00007267" "90" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000062910" "00007267" "50" "712" "73" "712" "73" "c.712+73A>G" "r.(=)" "p.(=)" "" "0000062911" "00007267" "10" "6" "0" "6" "0" "c.6G>A" "r.(=)" "p.(=)" "" "0000062912" "00007267" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Ser88Leu)" "" "0000130145" "00007267" "90" "592" "0" "592" "0" "c.592dup" "r.(?)" "p.(His198Profs*23)" "" "0000267901" "00007267" "10" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "0000326585" "00007267" "50" "3497" "0" "3497" "0" "c.*2732A>G" "r.(=)" "p.(=)" "" "0000567581" "00007267" "70" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "" "0000567582" "00007267" "50" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "" "0000567583" "00007267" "30" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Ala62Thr)" "" "0000617662" "00007267" "30" "687" "0" "687" "0" "c.687G>T" "r.(?)" "p.(Leu229=)" "" "0000617663" "00007267" "50" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "" "0000617664" "00007267" "90" "131" "0" "132" "0" "c.131_132del" "r.(?)" "p.(Glu44ValfsTer62)" "" "0000650002" "00007267" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0000650003" "00007267" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Ser93Phe)" "" "0000650004" "00007267" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000660314" "00007267" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000692821" "00007267" "70" "505" "1" "505" "1" "c.505+1G>C" "r.spl?" "p.?" "" "0000727412" "00007267" "50" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0000983511" "00007267" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Ser93Phe)" "" "0001048367" "00007267" "70" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Cys170Tyr)" "" "0001048368" "00007267" "70" "509" "0" "509" "0" "c.509G>A" "r.(?)" "p.(Cys170Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000035782" "0000062907" "0000035783" "0000062908" "0000035784" "0000062909" "0000035785" "0000062910" "0000035786" "0000062911" "0000035787" "0000062912" "0000081059" "0000130145" "0000293313" "0000650002" "0000293314" "0000650003" "0000293315" "0000650004" "0000297705" "0000660314" "0000468520" "0001048367" "0000468521" "0001048368"