### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WBP4) # 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}}" "WBP4" "WW domain binding protein 4" "13" "q13.3" "unknown" "NC_000013.10" "UD_136095288609" "" "https://www.LOVD.nl/WBP4" "" "1" "12739" "11193" "604981" "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/WBP4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-12-08 19:46:52" "00000" "2024-04-19 20:27:30" ## 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}}" "00022721" "WBP4" "WW domain binding protein 4" "001" "NM_007187.3" "" "NP_009118.1" "" "" "" "-113" "2220" "1131" "41635697" "41658139" "" "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}}" "WBP4" "05611" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00443979" "" "" "" "2" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "3-generation family, 2 affected (F, M), unaffected heterozygous parents/relatives" "M" "yes" "" "" "0" "" "" "Arab Muslim" "Fam1PatIII1" "00443980" "" "" "00443979" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "fetus" "F" "yes" "" "<0d" "0" "" "" "Arab Muslim" "Fam1PatIII4" "00443981" "" "" "" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Estonia" "3y" "0" "" "" "" "Fam2PatII1" "00443982" "" "" "" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Egypt" "" "0" "" "" "" "Fam3PatII2" "00443983" "" "" "" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "3-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "Fam4PatIII2" "00443984" "" "" "" "2" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "2-generation family, 2 affected, unaffected heterozygous parents" "F" "" "Egypt" "" "0" "" "" "" "Fam5PatII3" "00443985" "" "" "00443984" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "sister" "F" "" "Egypt" "" "0" "" "" "" "Fam5PatII6" "00443986" "" "" "" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "India" "" "0" "" "" "" "Fam6PatII1" "00443987" "" "" "" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Morocco" "" "0" "" "" "" "Fam7PatII1" "00443988" "" "" "" "1" "" "00006" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "" "" "0" "" "" "" "Fam8PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00443979" "05611" "00443980" "05611" "00443981" "05611" "00443982" "05611" "00443983" "05611" "00443984" "05611" "00443985" "05611" "00443986" "05611" "00443987" "05611" "00443988" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05611 ## Count = 10 "{{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}}" "0000333234" "05611" "00443979" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., no prenatal anomalies; short philtrum, tented upper lip; protruding low-set ears; normal hair; retrognathia; motor delay; 16m-turning over; 19m-sit; 4y6m-walks, climbs, difficulty running; speech delay; not yet (syllables); not yet toilet trained; severe intellectual disability; autistic features; hyperactivity; no sleep disturbances; EEG normal; hypotonia; cerebral imaging normal; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333235" "05611" "00443980" "00006" "Familial, autosomal recessive" "<0d" "see paper; ..., 22wg-pregnancy terminated, prenatal intrauterine growth retardation, atrioventricular canal defect, suspected absence of thymus; atrioventricular canal defect" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333236" "05611" "00443981" "00006" "Familial, autosomal recessive" "15m" "see paper; ..., 3y-deceased; prenatal intrauterine growth retardation, oligohydramnios, bilateral hydro-nephrosis; hypertelorism; downward palpebral fissures (slant); depressed nasal bridge; smooth philtrum, high arched palate; low-set ears, broad inferior crus of antihelix; normal hair; turricephaly; proptosis; sandal gap; motor delay; <15m-turning over; not sitting; did not achieve walking; speech delay; no speech; did not achieve toilet trained; no autistic features; stereotypy; sleep-wake cycle disturbance; no clinical seizures; EEG diffuse non-epileptiform abnormal activity, diffuse abnormally slow rhythms; hypotonia; cerebral imaging agenesis of corpus callosum, frontotemporally widened subarachnoid space; feeding difficulties (gastrostomy feeding, frequent vomiting); congenital sensorineural hearing impairment; strabismus; atrial septal defect; urogenital abnormalities (hydronephrosis, renal cyst, cryptorchidism, hypospadias, anal atresia with fistula); frequent infections (bronchitis, otitis)" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333237" "05611" "00443982" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., no prenatal anomalies; no hypertelorism; normal palpebral fissures (slant); normal nasal bridge; normal mouth, normal oral cavity; normal ears; normal hair; no skeletal anomalies; motor delay; >2, walk, ataxic gait, frequent falling; speech delay; 3y-first words (<10 meaningful words); no autistic features; no behavioral anomalies; no clinical seizures; EEG normal; hypotonia; cerebral imaging normal; no feeding difficulties; bilateral conductive hearing loss to mid and high frequencies" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333238" "05611" "00443983" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., no prenatal anomalies; hypertelorism; upward palpebral fissures (slant); prominent nasal bridge; normal mouth, normal oral cavity; protruding small ears; thin hair; flat forehead, arched eyebrows, broad chin; motor delay; 9m-turning over; 16m-sit; 4y-walk; speech delay; 3y-first words (few double syllable words); not yet toilet trained; severe intellectual disability (IQ35); present (CARS: 38); stereotypy, hyperactivity; sleep-wake cycle disturbance; 3y-apneic spells with tonic seizures,controlled on oxcarbazepine; EEG left parietal epileptigenic discharges; hypotonia; cerebral imaging hypoplasia of corpus callosum, prominent cortical sulci; feeding difficulties; no hearing loss; infrequent strabismus; mitral regurgitation, small patent ductus arteriosu" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333239" "05611" "00443984" "00006" "Familial, autosomal recessive" "9y" "see paper; ..., part of twins, 55d-twin brother deceased (intestinal obstruction); hypertelorism; normal palpebral fissures (slant); depressed nasal bridge; short philtrum, high arched palate; protruding low-set ears; thin hair; motor delay; 8m-turning over; 14m-sit; 4y6m-walk; speech delay; 4y-first words (few words); 8y fairly toilet trained; moderate intellectual disability (IQ40); present (CARS: 35); stereotypy, hyperactivity; sleep-wake cycle disturbance; no clinical seizures; EEG normal; hypotonia in early infancy; cerebral imaging hypoplasia of corpus callosum; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333240" "05611" "00443985" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., no prenatal anomalies; hypertelorism; mild upward palpebral fissures (slant); normal mouth, normal oral cavity; protruding ears; thin hair; motor delay; 8m-turning over; 15m-sit; 3y-walk, wide-based gait; speech delay; 3y-first words (few letters); not yet toilet trained; severe intellectual disability (IQ35); autistic features (CARS: 36); nervousness, hyper-activity, aggression; sleep-wake cycle disturbance; no clinical seizures; EEG normal; hypotonia; cerebral imaging hypoplasia of corpus callosum, mild prominent cortical sulci; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333241" "05611" "00443986" "00006" "Familial, autosomal recessive" "2y5m" "see paper; ..., prenatal mild ventriculomegaly, polyhydramnios; no hypertelorism; bilateral epicanthal folds; normal nasal bridge; short philtrum, tented upper lip, thick lips, high narrow palate, crowding of teeth; anteverted ears, large ears; normal hair; asymmetric skull, bitemporal narrowing; prominent metopic ridge, overhanging columnella; pectus deformity, pes planus; motor delay; 2y5m-not yet walking, can take steps with support; speech delay; no speech yet; bruxism; hyperactivity; no clinical seizures; EEG normal; hypotonia; feeding difficulties" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333242" "05611" "00443987" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., prenatal intrauterine growth retardation, colpocephaly, ventriculomegaly, agenesis corpus callosum, faciocraniosynostosis; hypertelorism; downward palpebral fissures (slant); depressed nasal bridge (neonatal period); normal mouth, normal oral cavity; low-set ears, auditory canal stenosis; craniosynostosis; exophthalmos, microretrognathia; motor delay; 2y11m-sit; not yet walking; speech delay; no speech yet; intellectual disability; 2y-clinical seizures; EEG normal; hypotonia; cerebral imaging agenesis of the corpus callosum, abnormal cerebral cortical gyration, Chiari malformation; feeding difficulties; no hearing loss; no strabismus; no congenital heart defect; Hirschsprung disease" "" "" "" "" "" "" "" "neurodevelopmental syndrome" "0000333243" "05611" "00443988" "00006" "Familial, autosomal recessive" "" "see paper; ..., deceased in infancy; hypertelorism; bilateral epicanthal folds; depressed nasal bridge (neonatal period); cleft lip, cleft palate; low-set ears, left earlobe crease; bilateral club foot; no clinical seizures; EEG normal; hypotonia; cerebral imaging abnormal cerebral cortical gyration; multiple ventricular septal defects, cardiac coarctation; clitoris hypertrophy" "" "" "" "" "" "" "" "neurodevelopmental syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000445476" "00443979" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445477" "00443980" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445478" "00443981" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "trio WES, WGS, RNA-seq" "0000445479" "00443982" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445480" "00443983" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445481" "00443984" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445482" "00443985" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445483" "00443986" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445484" "00443987" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000445485" "00443988" "1" "00006" "00006" "2023-12-09 16:29:47" "" "" "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 = 14 "{{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}}" "0000550833" "0" "30" "13" "41639445" "41639446" "dup" "0" "02326" "ELF1_000002" "g.41639445_41639446dup" "" "" "" "WBP4(NM_007187.5):c.262+21_262+22dupAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41065309_41065310dup" "" "likely benign" "" "0000550834" "0" "10" "13" "41639446" "41639446" "del" "0" "01943" "ELF1_000003" "g.41639446del" "" "" "" "WBP4(NM_007187.5):c.262+23delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41065310del" "" "benign" "" "0000550835" "0" "30" "13" "41639446" "41639446" "del" "0" "02326" "ELF1_000003" "g.41639446del" "" "" "" "WBP4(NM_007187.5):c.262+23delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41065310del" "" "likely benign" "" "0000623065" "0" "30" "13" "41639443" "41639446" "dup" "0" "02330" "ELF1_000005" "g.41639443_41639446dup" "" "" "" "WBP4(NM_007187.5):c.262+21_262+24dupAAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41065307_41065310dup" "" "likely benign" "" "0000952487" "3" "90" "13" "41646930" "41646930" "del" "0" "00006" "WBP4_000005" "g.41646930del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41072794del" "SCV003922044" "pathogenic (recessive)" "" "0000952488" "3" "90" "13" "41646930" "41646930" "del" "0" "00006" "WBP4_000005" "g.41646930del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41072794del" "SCV003922044" "pathogenic (recessive)" "" "0000952489" "3" "90" "13" "41648271" "41664301" "del" "0" "00006" "WBP4_000006" "g.41648271_41664301del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "c.562+1278_*7251del" "very low WBP4 RNA expression" "Germline" "" "" "0" "" "" "g.41074135_41090165del" "SCV003922045" "pathogenic (recessive)" "" "0000952490" "3" "90" "13" "41646930" "41646930" "del" "0" "00006" "WBP4_000005" "g.41646930del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "" "" "0" "" "" "g.41072794del" "SCV003922044" "pathogenic (recessive)" "" "0000952491" "3" "90" "13" "41646930" "41646930" "del" "0" "00006" "WBP4_000005" "g.41646930del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "" "" "0" "" "" "g.41072794del" "SCV003922044" "pathogenic (recessive)" "" "0000952492" "3" "90" "13" "41646930" "41646930" "del" "0" "00006" "WBP4_000005" "g.41646930del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41072794del" "SCV003922044" "pathogenic (recessive)" "" "0000952493" "3" "90" "13" "41646930" "41646930" "del" "0" "00006" "WBP4_000005" "g.41646930del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41072794del" "SCV003922044" "pathogenic (recessive)" "" "0000952494" "3" "90" "13" "41650285" "41650285" "subst" "0" "00006" "WBP4_000007" "g.41650285C>G" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "" "" "0" "" "" "g.41076149C>G" "SCV003922046" "pathogenic (recessive)" "" "0000952495" "3" "90" "13" "41656863" "41656863" "del" "0" "00006" "WBP4_000008" "g.41656863del" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "" "" "0" "" "" "g.41082727del" "SCV003922047" "pathogenic (recessive)" "" "0000952496" "3" "90" "13" "41645662" "41645662" "subst" "0" "00006" "WBP4_000004" "g.41645662G>A" "" "{PMID:Engal 2023:37963460}, {DOI:Engal 2023:10.1016/j.ajhg.2023.10.013}" "" "" "" "Germline" "" "" "0" "" "" "g.41071526G>A" "SCV003922048" "pathogenic (recessive)" "" ## 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 WBP4 ## Count = 14 "{{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}}" "0000550833" "00022721" "30" "262" "22" "262" "23" "c.262+22_262+23dup" "r.(=)" "p.(=)" "" "0000550834" "00022721" "10" "262" "23" "262" "23" "c.262+23del" "r.(=)" "p.(=)" "" "0000550835" "00022721" "30" "262" "23" "262" "23" "c.262+23del" "r.(=)" "p.(=)" "" "0000623065" "00022721" "30" "262" "20" "262" "23" "c.262+20_262+23dup" "r.(=)" "p.(=)" "" "0000952487" "00022721" "90" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Thr167ProfsTer4)" "" "0000952488" "00022721" "90" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Thr167ProfsTer4)" "" "0000952489" "00022721" "90" "" "0" "" "0" "c.562+1278_*1089{0}" "r.?" "p.?" "" "0000952490" "00022721" "90" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Thr167ProfsTer4)" "" "0000952491" "00022721" "90" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Thr167ProfsTer4)" "" "0000952492" "00022721" "90" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Thr167ProfsTer4)" "" "0000952493" "00022721" "90" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Thr167ProfsTer4)" "" "0000952494" "00022721" "90" "668" "0" "668" "0" "c.668C>G" "r.(?)" "p.(Ser223Ter)" "" "0000952495" "00022721" "90" "944" "0" "944" "0" "c.944del" "r.(?)" "p.(Pro315GlnfsTer55)" "" "0000952496" "00022721" "90" "440" "-1" "440" "-1" "c.440-1G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000445476" "0000952487" "0000445477" "0000952488" "0000445478" "0000952489" "0000445479" "0000952490" "0000445480" "0000952491" "0000445481" "0000952492" "0000445482" "0000952493" "0000445483" "0000952494" "0000445484" "0000952495" "0000445485" "0000952496"