### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF3B) # 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}}" "EIF3B" "eukaryotic translation initiation factor 3, subunit B" "7" "p22" "unknown" "NC_000007.13" "UD_132437363974" "" "https://www.LOVD.nl/EIF3B" "" "1" "3280" "8662" "603917" "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" "2025-10-29 10:13:09" "00000" "2026-02-09 14:54:03" ## 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}}" "00006982" "EIF3B" "transcript variant 2" "001" "NM_001037283.1" "" "NP_001032360.1" "" "" "" "-83" "3001" "2445" "2394474" "2420380" "" "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}}" "EIF3B" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00467744" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, carrier mother with hip dysplasia" "F" "" "" "" "0" "" "" "" "Pat1" "00467745" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected fetus, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat2" "00467746" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected (adopted)" "F" "" "" "" "0" "" "" "" "Pat3" "00467747" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat4" "00467748" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat5" "00467749" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat6" "00467750" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat7" "00467751" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat8" "00467752" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents (familial short stature)" "M" "" "" "" "0" "" "" "" "Pat9" "00467753" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat10" "00467754" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Pat11" "00467755" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffectednon-carrier mother" "F" "" "" "" "0" "" "" "" "Pat12" "00467756" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Pat13" "00467757" "" "" "" "1" "" "00006" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "" "" "0" "" "" "" "Pat14" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00467744" "05611" "00467745" "05611" "00467746" "05611" "00467747" "05611" "00467748" "05611" "00467749" "05611" "00467750" "05611" "00467751" "05611" "00467752" "05611" "00467753" "05611" "00467754" "05611" "00467755" "05611" "00467756" "05611" "00467757" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 14 "{{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}}" "0000352896" "05611" "00467744" "00006" "Familial" "1y1m" "see paper; ..., tetralogy of Fallot; no craniofacial dysmorphisms; no behavioral/neurodevelopmental features; no seizures; mother hip dysplasia" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352897" "05611" "00467745" "00006" "Isolated (sporadic)" "<0d" "see paper; ..., 22wg-termination pregnancy; tetralogy of Fallot; large head, square face, microretrognathia; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352898" "05611" "00467746" "00006" "Unknown" "7y8m" "see paper; ..., tetralogy of Fallot; attention-deficit hyperactivity disorder, aggression, developmental delay, memory retention concerns; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352899" "05611" "00467747" "00006" "Isolated (sporadic)" "11y" "see paper; ..., interatrial communication (spontaneously closed); bilateral cleft lip and palate; delay in verbal language without intellectual disability, autism spectrum disorder; seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352900" "05611" "00467748" "00006" "Isolated (sporadic)" "9y" "see paper; ..., no cardiac anomalies; downslanting palpebral fissures, short neck, Noonan-like facies; attention-deficit hyperactivity disorder, learning difficulties; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352901" "05611" "00467749" "00006" "Isolated (sporadic)" "10y8m" "see paper; ..., pulmonary stenosis, atrial septal defect, ventricular septal defect, aortic dilation; hypertelorism with telecanthus, arched eyebrows, eyelid ptosis, downslanting palpebral fissures, broad nasal root, posteriorly rotated ears, broad face, flattened and thin philtrum, Cupid’s bow mouth; early developmental delay, attention-deficit hyperactivity disorder, autism spectrum disorder, dyslexia; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352902" "05611" "00467750" "00006" "Isolated (sporadic)" "11y11m" "see paper; ..., no cardiac anomalies; hearing loss; cleft lip and palate; no behavioral/neurodevelopmental features; speech delay due to hearing loss; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352903" "05611" "00467751" "00006" "Isolated (sporadic)" "9y" "see paper; ..., ventricular septal defect, subaortic membrane stenosis, aortic insufficiency, anomalous muscle bundle of the right ventricle; ptosis; no behavioral/neurodevelopmental features; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352904" "05611" "00467752" "00006" "Isolated (sporadic)" "15y" "see paper; ..., bicuspid aortic valve; severe congenital ptosis OS>OD, dysplastic ears, mild malar hypoplasia, microcephaly; developmental delay without cognitive impairment; no seizures; familial short stature" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352905" "05611" "00467753" "00006" "Isolated (sporadic)" "9m" "see paper; ..., tetralogy of Fallot; bilateral cleft lip and palate, no teeth, large crus; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352906" "05611" "00467754" "00006" "Isolated (sporadic)" "2m" "see paper; ..., ventricular septal defect and atrial septal defect; microcephaly, dysmorphic features: broad forehead, temporal balding, arched eyebrows, broad nasal bridge, small nose, midface hypoplasia, flat philtrum, short neck; possible attention-deficit hyperactivity disorder, mild language delay; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352907" "05611" "00467755" "00006" "Unknown" "16y4m" "see paper; ..., no cardiac anomalies; no craniofacial dysmorphisms; mild learning disability; no seizures; familial cleft palate" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352908" "05611" "00467756" "00006" "Isolated (sporadic)" "3m" "see paper; ..., patent ductus arteriosus, three small muscular ventricular septal defect, perimembranous ventricular septal defect, small atrial septal defect, persistent left vena cava superior draining in the coronary sinus; progressive microcephaly, high forehead with slightly prominent metopic suture, bilateral epicanthus, hypertelorism, prominent nasal tip, small mouth, retrognathia; no behavioral/neurodevelopmental features; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" "0000352909" "05611" "00467757" "00006" "Familial" "8y" "see paper; ..., pulmonary atresia with patent septum type 2; cleft lip and palate; intellectual disability, walked at 18 months, no language, hyperactivity, aggression, autism spectrum disorder; no seizures" "" "" "" "" "" "" "" "neurodevelopmental disorders" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000469410" "00467744" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469411" "00467745" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469412" "00467746" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469413" "00467747" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469414" "00467748" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469415" "00467749" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469416" "00467750" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469417" "00467751" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469418" "00467752" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469419" "00467753" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469420" "00467754" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469421" "00467755" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000469422" "00467756" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000469423" "00467757" "1" "00006" "00006" "2025-10-29 10:58:33" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## 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 = 17 "{{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}}" "0000531716" "0" "50" "7" "2418351" "2418351" "subst" "0" "01943" "EIF3B_000001" "g.2418351T>C" "" "" "" "EIF3B(NM_001037283.2):c.2182T>C (p.S728P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2378716T>C" "" "VUS" "" "0000996434" "0" "50" "7" "2416588" "2416588" "subst" "0" "01804" "EIF3B_000002" "g.2416588G>T" "" "" "" "EIF3B(NM_001037283.1):c.2032G>T (p.(Asp678Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049704" "21" "90" "7" "2395015" "2395015" "del" "0" "00006" "EIF3B_000006" "g.2395015del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "Germline" "" "" "0" "" "" "g.2355380del" "" "pathogenic (dominant)" "" "0001049705" "0" "90" "7" "2418351" "2418351" "subst" "0" "00006" "EIF3B_000001" "g.2418351T>C" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2378716T>C" "" "pathogenic (dominant)" "" "0001049706" "0" "90" "7" "2394971" "2394971" "subst" "0" "00006" "EIF3B_000005" "g.2394971G>T" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.2355336G>T" "" "pathogenic (dominant)" "" "0001049707" "0" "90" "7" "2419027" "2419028" "del" "5.03368E-6" "00006" "EIF3B_000004" "g.2419027_2419028del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2379392_2379393del" "" "pathogenic (dominant)" "" "0001049708" "0" "90" "7" "2403319" "2403320" "del" "0" "00006" "EIF3B_000008" "g.2403319_2403320del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2363684_2363685del" "" "pathogenic (dominant)" "" "0001049709" "0" "90" "7" "2403379" "2403379" "subst" "0" "00006" "EIF3B_000009" "g.2403379C>G" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2363744C>G" "" "pathogenic (dominant)" "" "0001049710" "0" "90" "7" "2353956" "2593880" "del" "0" "00006" "EIF3B_000003" "g.2353956_2593880del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "hg38 7p22.3 (chr7:2314321–2554246)x1" "240 kbp deletion overlapping 5′end SNX8, EIF3B, CHST12, GRIFIN, LFNG and several exons 3′end of BRAT1" "De novo" "" "" "0" "" "" "g.2314321_2554246del" "" "pathogenic (dominant)" "" "0001049711" "0" "90" "7" "2404092" "2404092" "dup" "0" "00006" "EIF3B_000010" "g.2404092dup" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2364457dup" "" "pathogenic (dominant)" "" "0001049712" "0" "90" "7" "2409248" "2409248" "subst" "0" "00006" "EIF3B_000012" "g.2409248C>A" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2369613C>A" "" "pathogenic (dominant)" "" "0001049713" "0" "90" "7" "2418769" "2418769" "subst" "0" "00006" "EIF3B_000015" "g.2418769G>T" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2379134G>T" "" "pathogenic (dominant)" "" "0001049714" "0" "90" "7" "2415129" "2415129" "subst" "0" "00006" "EIF3B_000013" "g.2415129C>A" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2375494C>A" "" "pathogenic (dominant)" "" "0001049715" "0" "90" "7" "2416653" "2416654" "dup" "0" "00006" "EIF3B_000014" "g.2416653_2416654dup" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "variant not maternally inherited" "Germline/De novo (untested)" "" "" "0" "" "" "g.2377018_2377019dup" "" "pathogenic (dominant)" "" "0001049716" "0" "90" "7" "2406085" "2406085" "dup" "0" "00006" "EIF3B_000011" "g.2406085dup" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "De novo" "" "" "0" "" "" "g.2366450dup" "" "pathogenic (dominant)" "" "0001049717" "21" "90" "7" "2403314" "2403315" "del" "0" "00006" "EIF3B_000007" "g.2403314_2403315del" "" "{PMID:Erkut 2025:41033306}, {DOI:Erkut 2025:10.1016/j.ajhg.2025.09.008}" "" "" "" "Germline" "" "" "0" "" "" "g.2363679_2363680del" "" "pathogenic (dominant)" "" "0001068172" "0" "50" "7" "2400416" "2400416" "subst" "0" "03779" "EIF3B_000016" "g.2400416A>G" "" "" "" "" "" "Unknown" "" "rs1779684995" "0" "" "" "" "" "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 EIF3B ## Count = 17 "{{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}}" "0000531716" "00006982" "50" "2182" "0" "2182" "0" "c.2182T>C" "r.(?)" "p.(Ser728Pro)" "" "0000996434" "00006982" "50" "2032" "0" "2032" "0" "c.2032G>T" "r.(?)" "p.(Asp678Tyr)" "" "0001049704" "00006982" "90" "459" "0" "459" "0" "c.459del" "r.(?)" "p.(Phe153LeufsTer11)" "" "0001049705" "00006982" "90" "2182" "0" "2182" "0" "c.2182T>C" "r.(?)" "p.(Ser728Pro)" "" "0001049706" "00006982" "90" "415" "0" "415" "0" "c.415G>T" "r.(?)" "p.(Glu139Ter)" "" "0001049707" "00006982" "90" "2342" "-2" "2342" "-1" "c.2342-2_2342-1del" "r.2341_2342ins2341+1_2342-3" "p.?" "17i" "0001049708" "00006982" "90" "923" "0" "924" "0" "c.923_924del" "r.(?)" "p.(Val308AspfsTer3)" "" "0001049709" "00006982" "90" "983" "0" "983" "0" "c.983C>G" "r.(?)" "p.(Ser328Ter)" "" "0001049710" "00006982" "90" "-40601" "0" "176502" "0" "c.-40601_*174057del" "r.0" "p.0" "" "0001049711" "00006982" "90" "1085" "0" "1085" "0" "c.1085dup" "r.(?)" "p.(Glu363ArgfsTer18)" "" "0001049712" "00006982" "90" "1545" "0" "1545" "0" "c.1545C>A" "r.(?)" "p.(Cys515Ter)" "" "0001049713" "00006982" "90" "2233" "0" "2233" "0" "c.2233G>T" "r.(?)" "p.(Glu745Ter)" "" "0001049714" "00006982" "90" "1995" "0" "1995" "0" "c.1995C>A" "r.(?)" "p.(Tyr665Ter)" "" "0001049715" "00006982" "90" "2097" "0" "2098" "0" "c.2097_2098dup" "r.(?)" "p.(Cys700SerfsTer14)" "" "0001049716" "00006982" "90" "1289" "2" "1289" "2" "c.1289+2dup" "r.spl" "p.?" "" "0001049717" "00006982" "90" "918" "0" "919" "0" "c.918_919del" "r.(?)" "p.(Tyr306Ter)" "" "0001068172" "00006982" "50" "571" "0" "571" "0" "c.571A>G" "r.(?)" "p.(Asn191Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000469410" "0001049704" "0000469411" "0001049705" "0000469412" "0001049706" "0000469413" "0001049707" "0000469414" "0001049708" "0000469415" "0001049709" "0000469416" "0001049710" "0000469417" "0001049711" "0000469418" "0001049712" "0000469419" "0001049713" "0000469420" "0001049714" "0000469421" "0001049715" "0000469422" "0001049716" "0000469423" "0001049717"