### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EEFSEC) # 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}}" "EEFSEC" "eukaryotic elongation factor, selenocysteine-tRNA-specific" "3" "q21.3" "unknown" "NC_000003.11" "UD_136022840625" "" "http://www.LOVD.nl/EEFSEC" "" "1" "24614" "60678" "607695" "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/EEFSEC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-01-04 13:16:12" "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}}" "00006887" "EEFSEC" "eukaryotic elongation factor, selenocysteine-tRNA-specific" "001" "NM_021937.3" "" "NP_068756.2" "" "" "" "-38" "2178" "1791" "127872313" "128127489" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EEFSEC" "05611" ## 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}}" "00459440" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Brazil" "" "0" "" "" "" "Fam1PatII4" "00459441" "" "" "" "2" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "yes" "Brazil" "" "0" "" "" "" "Fam2PatII7" "00459442" "" "" "00459441" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "sister" "F" "yes" "Brazil" "" "0" "" "" "" "Fam2PatII8" "00459443" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, 1 affected/3 deceased fetuses, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "Fam3PatII1" "00459444" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Georgia" "" "0" "" "" "jew" "Fam4PatII1" "00459445" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam5PatII1" "00459446" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam6PatII1" "00459447" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "Fam7PatII1" "00459448" "" "" "" "1" "" "00006" "{PMID:Laugwitz 2025:39753114}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Afghanistan" "" "0" "" "" "" "Fam8PatII3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00459440" "05611" "00459441" "05611" "00459442" "05611" "00459443" "05611" "00459444" "05611" "00459445" "05611" "00459446" "05611" "00459447" "05611" "00459448" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000347514" "05611" "00459440" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., club feet, developmental delay; secondary microcephaly; moderate intellectual disability; delayed speech; delayed motor development; progressive spasticity predominantly lower extremities; dysmetric jerks, nystagmus; 19y-tonic-clonic seizures; normal vision; no hearing impairment; club feet; 21y-neuroimaging mild cerebral atrophy (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347515" "05611" "00459441" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., developmental delay; primary microcephaly; severe intellectual disability; delayed speech; delayed motor development, not walking; progressive spasticity predominantly lower extremities; nystagmus, saccadic breakdown; 10y-complex focal seizures; strabism; no hearing impairment; micrognathia; facial dysmorphism; hypochromic skin lesion; 13y-neuroimaging mild cerebral atrophy (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347516" "05611" "00459442" "00006" "Familial, autosomal recessive" "21y" "see paper; ..., developmental delay; primary microcephaly; severe intellectual disability; delayed speech; delayed motor development, not walking; progressive spasticity predominantly lower extremities; no ataxia; peripheral neuropathy; 2y-complex focal seizures; strabism; no hearing impairment; thin upper lip; hypochromic skin lesion; 15y/21y-neuroimaging progressive cerebral atrophy (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347517" "05611" "00459443" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., microcephaly, developmental delay; primary microcephaly; moderate intellectual disability; delayed speech; delayed motor development, 14m-walk; progressive spasticity predominantly lower extremities; intention tremor, dysarthria, ataxic gait; 18m-complex focal seizures, repetitive status epilepticus; normal vision; no hearing impairment; bilateral mild 5th finger clinodactyly; slight 2-3 syndactyly toes; 7y-neuroimaging mild cerebral atrophy (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347518" "05611" "00459444" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., severe muscular hypotonia, respiratory distress; secondary microcephaly; severe intellectual disability; no expressive language; delayed motor development, not walking; progressive spasticity; no ataxia; seizures; severe contractures; club feet; 1m/21m/6y-neuroimaging cerebella hypoplasia, delayed myelination (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347519" "05611" "00459445" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., intrauterine growth restriction, developmental delay; progressive primary microcephaly; severe intellectual disability; delayed speech; delayed motor development, 22m-walk; no spasticity; no ataxia; no seizures; oculomotor apraxia, horizontal gaze palsy; hearing impairment; syndactyly; nail dysplasia; 3y6m-neuroimaging mild cerebral atrophy (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347520" "05611" "00459446" "00006" "Familial, autosomal recessive" "17m" "see paper; ..., intrauterine growth restriction, developmental delay; secondary microcephaly; moderate intellectual disability; delayed speech; delayed motor development, not walking; no spasticity; no ataxia; no seizures; apraxia, horizontal gaze palsy; hearing impairment; joint laxity; facial dysmorphism; high arched palate; 4m-neuroimaging thin corpus callosum (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347521" "05611" "00459447" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., dysphagia; secondary microcephaly; severe intellectual disability; delayed speech; delayed motor development, 35m-walk; progressive spasticity predominantly lower extremities; ataxic gait, intention tremor; peripheral neuropathy; 3y-4y-myoclonic seizures; normal vision; no hearing impairment; 10y-neuroimaging cerebral atrophy (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental delay" "0000347522" "05611" "00459448" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., severe muscular hypotonia; secondary microcephaly; severe intellectual disability; no expressive language; delayed motor development, not walking; progressive spasticity; no ataxia; 2d-complex focal seizures; optic nerve hypoplasia; no hearing impairment; facial dysmorphism; microphthalmia; dysmorphic ears; nail dysplasia; 2y3m-neuroimagingsevere cerebral atrophy (detailed in paper)" "0d" "" "" "" "" "" "" "neurodevelopmental 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}}" "0000461065" "00459440" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461066" "00459441" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461067" "00459442" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461068" "00459443" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461069" "00459444" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461070" "00459445" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461071" "00459446" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461072" "00459447" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000461073" "00459448" "1" "00006" "00006" "2025-01-04 12:10:18" "" "" "SEQ;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 = 27 "{{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}}" "0000345850" "0" "50" "3" "127783720" "127783720" "subst" "0" "02327" "SEC61A1_000001" "g.127783720G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128064877G>A" "" "VUS" "" "0000517766" "0" "50" "3" "127785864" "127785864" "subst" "0" "02327" "RUVBL1_000003" "g.127785864A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128067021A>G" "" "VUS" "" "0000517768" "0" "30" "3" "127786910" "127786910" "subst" "0.000772421" "01804" "RUVBL1_000005" "g.127786910G>A" "" "" "" "SEC61A1(NM_013336.3):c.1244+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128068067G>A" "" "likely benign" "" "0000517769" "0" "50" "3" "127831744" "127831744" "del" "0" "02327" "RUVBL1_000006" "g.127831744del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128112901del" "" "VUS" "" "0000688921" "0" "30" "3" "127788409" "127788409" "subst" "0.00105185" "02326" "RUVBL1_000007" "g.127788409C>T" "" "" "" "SEC61A1(NM_013336.4):c.1335C>T (p.T445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800955" "0" "30" "3" "127785803" "127785803" "subst" "0.000666445" "02326" "RUVBL1_000008" "g.127785803C>A" "" "" "" "SEC61A1(NM_013336.4):c.784C>A (p.R262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800956" "0" "50" "3" "127785804" "127785804" "subst" "4.06345E-6" "02325" "RUVBL1_000009" "g.127785804G>A" "" "" "" "SEC61A1(NM_013336.4):c.785G>A (p.R262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850121" "0" "30" "3" "127788457" "127788457" "subst" "7.71574E-5" "02326" "RUVBL1_000011" "g.127788457C>T" "" "" "" "SEC61A1(NM_013336.4):c.1383C>T (p.F461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858791" "0" "30" "3" "127779356" "127779356" "subst" "0.000402125" "01943" "RUVBL1_000010" "g.127779356T>C" "" "" "" "SEC61A1(NM_013336.3):c.468T>C (p.F156=), SEC61A1(NM_013336.4):c.468T>C (p.F156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885535" "0" "30" "3" "127779338" "127779338" "dup" "0" "02326" "RUVBL1_000012" "g.127779338dup" "" "" "" "SEC61A1(NM_013336.4):c.463-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885536" "0" "30" "3" "127779356" "127779356" "subst" "0.000402125" "02326" "RUVBL1_000010" "g.127779356T>C" "" "" "" "SEC61A1(NM_013336.3):c.468T>C (p.F156=), SEC61A1(NM_013336.4):c.468T>C (p.F156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923827" "0" "30" "3" "127785979" "127785979" "subst" "1.21819E-5" "02326" "RUVBL1_000013" "g.127785979G>C" "" "" "" "SEC61A1(NM_013336.4):c.960G>C (p.L320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975553" "0" "30" "3" "127786290" "127786290" "subst" "0.000394081" "02326" "RUVBL1_000014" "g.127786290T>G" "" "" "" "SEC61A1(NM_013336.4):c.1002T>G (p.R334=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993259" "0" "50" "3" "127786833" "127786833" "subst" "0" "01804" "RUVBL1_000015" "g.127786833A>G" "" "" "" "SEC61A1(NM_013336.3):c.1175A>G (p.(Lys392Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020160" "3" "90" "3" "127872351" "127872351" "subst" "0" "00006" "EEFSEC_000001" "g.127872351A>G" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128153508A>G" "" "pathogenic (recessive)" "" "0001020161" "3" "90" "3" "127872351" "127872351" "subst" "0" "00006" "EEFSEC_000001" "g.127872351A>G" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128153508A>G" "" "pathogenic (recessive)" "" "0001020162" "3" "90" "3" "127872351" "127872351" "subst" "0" "00006" "EEFSEC_000001" "g.127872351A>G" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128153508A>G" "" "pathogenic (recessive)" "" "0001020163" "11" "90" "3" "127872351" "127872351" "subst" "0" "00006" "EEFSEC_000001" "g.127872351A>G" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128153508A>G" "" "pathogenic (recessive)" "" "0001020164" "3" "90" "3" "127981026" "127981026" "subst" "1.62437E-5" "00006" "EEFSEC_000002" "g.127981026C>A" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128262183C>A" "" "pathogenic (recessive)" "" "0001020165" "3" "90" "3" "128060458" "128060458" "subst" "4.06587E-6" "00006" "EEFSEC_000004" "g.128060458A>C" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128341615A>C" "" "pathogenic (recessive)" "" "0001020166" "3" "90" "3" "128060458" "128060458" "subst" "4.06587E-6" "00006" "EEFSEC_000004" "g.128060458A>C" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128341615A>C" "" "pathogenic (recessive)" "" "0001020167" "3" "90" "3" "128060567" "128060567" "subst" "0" "00006" "EEFSEC_000005" "g.128060567C>A" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128341724C>A" "" "pathogenic (recessive)" "" "0001020168" "3" "90" "3" "128127062" "128127063" "dup" "0" "00006" "EEFSEC_000006" "g.128127062_128127063dup" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128408219_128408220dup" "" "pathogenic (recessive)" "" "0001020169" "21" "90" "3" "128060143" "128060143" "subst" "0.0004634" "00006" "EEFSEC_000003" "g.128060143G>A" "" "{PMID:Laugwitz 2025:39753114}" "" "" "" "Germline" "" "" "0" "" "" "g.128341300G>A" "" "pathogenic (recessive)" "" "0001033654" "0" "30" "3" "127786820" "127786820" "subst" "1.21905E-5" "02325" "RUVBL1_000016" "g.127786820C>G" "" "" "" "SEC61A1(NM_013336.4):c.1168-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033655" "0" "30" "3" "127786905" "127786905" "subst" "0" "01804" "RUVBL1_000017" "g.127786905G>A" "" "" "" "SEC61A1(NM_013336.4):c.1244+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033656" "0" "50" "3" "128060078" "128060078" "subst" "0.000110556" "01804" "EEFSEC_000007" "g.128060078G>A" "" "" "" "EEFSEC(NM_021937.5):c.789G>A (p.(Val263=))" "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 EEFSEC ## Count = 27 "{{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}}" "0000345850" "00006887" "50" "-88631" "0" "-88631" "0" "c.-88631G>A" "r.(?)" "p.(=)" "" "0000517766" "00006887" "50" "-86487" "0" "-86487" "0" "c.-86487A>G" "r.(?)" "p.(=)" "" "0000517768" "00006887" "30" "-85441" "0" "-85441" "0" "c.-85441G>A" "r.(?)" "p.(=)" "" "0000517769" "00006887" "50" "-40607" "0" "-40607" "0" "c.-40607del" "r.(?)" "p.(=)" "" "0000688921" "00006887" "30" "-83942" "0" "-83942" "0" "c.-83942C>T" "r.(?)" "p.(=)" "" "0000800955" "00006887" "30" "-86548" "0" "-86548" "0" "c.-86548C>A" "r.(?)" "p.(=)" "" "0000800956" "00006887" "50" "-86547" "0" "-86547" "0" "c.-86547G>A" "r.(?)" "p.(=)" "" "0000850121" "00006887" "30" "-83894" "0" "-83894" "0" "c.-83894C>T" "r.(?)" "p.(=)" "" "0000858791" "00006887" "30" "-92995" "0" "-92995" "0" "c.-92995T>C" "r.(?)" "p.(=)" "" "0000885535" "00006887" "30" "-93013" "0" "-93013" "0" "c.-93013dup" "r.(?)" "p.(=)" "" "0000885536" "00006887" "30" "-92995" "0" "-92995" "0" "c.-92995T>C" "r.(?)" "p.(=)" "" "0000923827" "00006887" "30" "-86372" "0" "-86372" "0" "c.-86372G>C" "r.(?)" "p.(=)" "" "0000975553" "00006887" "30" "-86061" "0" "-86061" "0" "c.-86061T>G" "r.(?)" "p.(=)" "" "0000993259" "00006887" "50" "-85518" "0" "-85518" "0" "c.-85518A>G" "r.(?)" "p.(=)" "" "0001020160" "00006887" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001020161" "00006887" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001020162" "00006887" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001020163" "00006887" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001020164" "00006887" "90" "580" "0" "580" "0" "c.580C>A" "r.(?)" "p.(Pro194Thr)" "" "0001020165" "00006887" "90" "1169" "0" "1169" "0" "c.1169A>C" "r.(?)" "p.(Asp390Ala)" "" "0001020166" "00006887" "90" "1169" "0" "1169" "0" "c.1169A>C" "r.(?)" "p.(Asp390Ala)" "" "0001020167" "00006887" "90" "1278" "0" "1278" "0" "c.1278C>A" "r.(?)" "p.(Cys426Ter)" "" "0001020168" "00006887" "90" "1751" "0" "1752" "0" "c.1751_1752dup" "r.(?)" "p.(Val585MetfsTer104)" "" "0001020169" "00006887" "90" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285Gln)" "" "0001033654" "00006887" "30" "-85531" "0" "-85531" "0" "c.-85531C>G" "r.(?)" "p.(=)" "" "0001033655" "00006887" "30" "-85446" "0" "-85446" "0" "c.-85446G>A" "r.(?)" "p.(=)" "" "0001033656" "00006887" "50" "789" "0" "789" "0" "c.789G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000461065" "0001020160" "0000461066" "0001020161" "0000461067" "0001020162" "0000461068" "0001020163" "0000461068" "0001020169" "0000461069" "0001020164" "0000461070" "0001020165" "0000461071" "0001020166" "0000461072" "0001020167" "0000461073" "0001020168"