### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WWOX) # 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}}" "WWOX" "WW domain containing oxidoreductase" "16" "q23.3-q24.1" "unknown" "NG_011698.1" "UD_132085438700" "" "http://www.LOVD.nl/WWOX" "" "1" "12799" "51741" "605131" "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/WWOX_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-28 12:06:32" "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}}" "00022888" "WWOX" "transcript variant 1" "001" "NM_016373.2" "" "NP_057457.1" "" "" "" "-349" "2116" "1245" "78133327" "79246564" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00882" "cancer, esophageal" "cancer, esophageal" "" "133239" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:25:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05065" "DEE28;EIEE28" "encephalopathy, developmental and epileptic, type 28" "AR" "616211" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2022-11-28 12:07:49" "05066" "SCAR12" "ataxia, spinocerebellar, autosomal recessive, type 12 (SCAR12)" "AR" "614322" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05315" "epilepsy, Rolandic" "epilepsy, Rolandic" "" "" "" "" "" "00006" "2017-08-11 13:02:50" "" "" "05408" "FAME" "epilepsy, myoclonic, familial adult (FAME)" "" "" "" "autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course" "alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)" "00006" "2018-03-18 16:17:05" "00006" "2021-10-25 15:27:58" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "WWOX" "00882" "WWOX" "05065" "WWOX" "05066" ## Individuals ## Do not remove or alter this header ## ## Count = 28 "{{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}}" "00080800" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" "" "00080822" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00116870" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_237:0/1:CONTROL" "00116878" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_259:0/1:CONTROL" "00116883" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_271:0/1:CONTROL" "00116897" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_298:0/1:CONTROL" "00116906" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_316:0/1:CONTROL" "00116938" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_4:0/1:CONTROL" "00117005" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 567 controls" "" "" "" "" "0" "" "" "" "S_545:0/1:CONTROL" "00117031" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_589:0/1:TYPICAL_RE" "00117073" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_670:0/1:TYPICAL_RE" "00117076" "" "" "" "1" "" "02192" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "individual from 194 RE cases" "" "" "" "" "0" "" "" "" "S_674:0/1:TYPICAL_RE" "00180177" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat29" "00229779" "" "" "" "18" "" "00006" "{PMID:van Rootselaar 2017:29127138}, {PMID:Florion 2019:31664039}" "5-generation family, 18 affected" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamFMTCE3/Fam3" "00291550" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291551" "" "" "" "77" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291552" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291553" "" "" "" "27" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301404" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00304537" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304538" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00361576" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG0502" "00374536" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5186" "00374887" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-222" "00408089" "" "" "" "1" "" "00000" "{PMID:Alabdullatif 2017:27717089}" "" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "93" "00415077" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "M" "" "" "" "0" "" "" "" "Pat14" "00426170" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "11MS8800" "00438721" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "" "" "HSC0083" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00080800" "05065" "00080822" "05065" "00116870" "00000" "00116878" "00000" "00116883" "00000" "00116897" "00000" "00116906" "00000" "00116938" "00000" "00117005" "00000" "00117031" "05315" "00117073" "05315" "00117076" "05315" "00180177" "00198" "00229779" "05408" "00291550" "00198" "00291551" "00198" "00291552" "00198" "00291553" "00198" "00301404" "00198" "00304537" "00198" "00304538" "00198" "00361576" "00139" "00374536" "00198" "00374887" "00198" "00408089" "04214" "00415077" "05611" "00426170" "00139" "00438721" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00882, 04214, 05065, 05066, 05315, 05408, 05611, 06906 ## Count = 15 "{{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}}" "0000060369" "05065" "00080800" "01758" "Familial, autosomal recessive" "" "Epileptic encephalopathy, early infantile, 28, Autosomal recessive (OMIM:616211)" "" "" "" "" "" "" "" "" "" "" "" "0000060391" "05065" "00080822" "01758" "Familial, autosomal recessive" "" "Epileptic encephalopathy, early infantile, 28 (OMIM:616211)" "" "" "" "" "" "" "" "" "" "" "" "0000092301" "05315" "00117031" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092335" "05315" "00117073" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000092338" "05315" "00117076" "02192" "Unknown" "" "typical Rolandic epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000142631" "00198" "00180177" "00006" "Familial, autosomal recessive" "" "Epileptic encephalopathy (HP:0200134), (severe) infantile muscular hypotonia (HP:0008947)." "" "" "" "" "" "" "" "" "EIEE-28" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000172985" "05408" "00229779" "00006" "Familial, autosomal dominant" "" "see paper; ..., tremulous movements, either in combination with electrophysiologic features of cortical reflex myoclonus including giant-somatosensory evoked potential and long latency reflex, or in combination with history of generalized epileptic seizures, and exclusion of other causes of tremor/myoclonus/epilepsy" "" "" "" "" "" "" "" "" "FAME3" "FMCTE" "" "0000228582" "00198" "00301404" "01807" "Unknown" "" "Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Generalized hypotonia (HP:0001290); Epileptic encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "0000256981" "00139" "00361576" "00006" "Familial, autosomal recessive" "0y8m" "syndromic; global developmental delay, dysmorphism and brain atrophy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269746" "00198" "00374536" "00006" "Familial, autosomal recessive" "" "Refractory epilepsy and developmental delay" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000270097" "00198" "00374887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000300217" "04214" "00408089" "00000" "Familial, autosomal recessive" "10m" "10 months old male infant was born at term via C-section due to fetal distress. At birth he developed respiratory distress and was admitted to NICU where he was initially diagnosed to have meconium aspiration and required respiratory support. He spent 6 months in NICU. He also had feeding difficulties needed nasogastric then gastrostomy tube feeding, clonic seizures noticed at the age of 2 months, respiratory failure required respiratory support via tracheostomy, clubfeet, hearing impairment, spasticity, patent ductus arteriosus, patent foramen ovale, polymicrogyria, dysplastic corpus callosum, developmental delay, and distinctive facial features (hypertelorism, depressed nasal bridge, small nose, and micrognathia). He had normal growth parameters. Parents were cousins, and he was the only child for them." "" "" "" "" "" "" "" "" "Epileptic encephalopathy, early infantile, 28" "" "" "0000306878" "05611" "00415077" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000317320" "00139" "00426170" "00006" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "DEE28" "intellectual disability" "" "0000328624" "06906" "00438721" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 28 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000080912" "00080800" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000080934" "00080822" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117338" "00116870" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117346" "00116878" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117351" "00116883" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117365" "00116897" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117374" "00116906" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117406" "00116938" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117473" "00117005" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117512" "00117031" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117546" "00117073" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000117549" "00117076" "1" "02192" "00006" "2017-08-03 15:16:01" "" "" "SEQ-NG" "DNA" "" "" "0000181080" "00180177" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000230872" "00229779" "1" "00006" "00006" "2019-04-10 20:30:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292718" "00291550" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292719" "00291551" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292720" "00291552" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292721" "00291553" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302525" "00301404" "1" "01807" "01807" "2020-05-15 11:31:01" "" "" "SEQ" "DNA" "" "" "0000305666" "00304537" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305667" "00304538" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000362804" "00361576" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375730" "00374536" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376081" "00374887" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000409344" "00408089" "1" "00000" "03840" "2022-04-13 19:19:00" "" "" "arraySNP;SEQ" "DNA" "" "" "0000416358" "00415077" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427490" "00426170" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440203" "00438721" "1" "00006" "00006" "2023-10-21 20:39:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000080912" "WWOX" "0000080934" "WWOX" "0000181080" "WWOX" "0000230872" "CTNND2" "0000362804" "WWOX" "0000375730" "WWOX" "0000376081" "WWOX" "0000409344" "WWOX" ## 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 = 102 "{{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}}" "0000129991" "21" "70" "16" "78143674" "78143674" "subst" "0" "01758" "WWOX_000001" "g.78143674G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.78109777G>T" "" "likely pathogenic" "ACMG" "0000129992" "11" "70" "16" "78466511" "78466511" "subst" "4.06121E-6" "01758" "WWOX_000003" "g.78466511del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.78432614del" "" "likely pathogenic" "ACMG" "0000130020" "3" "70" "16" "78149052" "78149052" "subst" "0" "01758" "WWOX_000002" "g.78149052G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.78115155G>T" "" "likely pathogenic" "ACMG" "0000188183" "0" "50" "16" "78148952" "78148952" "subst" "3.655E-5" "02192" "WWOX_000004" "g.78148952C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "" "0" "" "" "g.78115055C>T" "" "VUS" "" "0000188191" "0" "50" "16" "79245590" "79245590" "subst" "0.000548321" "02192" "WWOX_000009" "g.79245590G>A" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202002431" "0" "" "" "g.79211693G>A" "" "VUS" "" "0000188196" "0" "50" "16" "79245626" "79245626" "subst" "0.000519924" "02192" "WWOX_000010" "g.79245626C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs139253468" "0" "" "" "g.79211729C>T" "" "VUS" "" "0000188251" "0" "50" "16" "79245652" "79245652" "subst" "0.00039412" "02192" "WWOX_000011" "g.79245652G>A" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200839945" "0" "" "" "g.79211755G>A" "" "VUS" "" "0000188318" "0" "50" "16" "78466539" "78466539" "subst" "0.000129953" "02192" "WWOX_000007" "g.78466539G>C" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs201941494" "0" "" "" "g.78432642G>C" "" "VUS" "" "0000188344" "0" "50" "16" "79245670" "79245670" "subst" "0.000109998" "02192" "WWOX_000012" "g.79245670C>T" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs144234059" "0" "" "" "g.79211773C>T" "" "VUS" "" "0000188386" "0" "50" "16" "78458915" "78458915" "subst" "0.0233954" "02192" "WWOX_000006" "g.78458915C>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs75559202" "0" "" "" "g.78425018C>G" "" "VUS" "" "0000188389" "0" "50" "16" "78466583" "78466583" "subst" "0.000158386" "02192" "WWOX_000008" "g.78466583C>G" "1/194 cases RE" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs117209694" "0" "" "" "g.78432686C>G" "" "VUS" "" "0000188468" "0" "50" "16" "79245652" "79245652" "subst" "0.00039412" "02192" "WWOX_000011" "g.79245652G>A" "2/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs200839945" "0" "" "" "g.79211755G>A" "" "VUS" "" "0000188472" "0" "50" "16" "78458796" "78458796" "subst" "7.71668E-5" "02192" "WWOX_000005" "g.78458796C>T" "1/567 controls" "{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}" "" "" "" "Germline" "" "rs202006159" "0" "" "" "g.78424899C>T" "" "VUS" "" "0000248260" "0" "10" "16" "78312527" "78312527" "subst" "0.0731848" "02325" "WWOX_000020" "g.78312527A>G" "" "" "" "WWOX(NM_130791.4):c.544A>G (p.K182E), WWOX(NM_130791.5):c.544A>G (p.K182E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78278630A>G" "" "benign" "" "0000251706" "0" "30" "16" "78312527" "78312527" "subst" "0.0731848" "02326" "WWOX_000020" "g.78312527A>G" "" "" "" "WWOX(NM_130791.4):c.544A>G (p.K182E), WWOX(NM_130791.5):c.544A>G (p.K182E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78278630A>G" "" "likely benign" "" "0000256429" "0" "50" "16" "78458850" "78458850" "subst" "1.21843E-5" "01943" "WWOX_000025" "g.78458850A>C" "" "" "" "WWOX(NM_016373.3):c.689A>C (p.Q230P), WWOX(NM_016373.4):c.689A>C (p.(Gln230Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424953A>C" "" "VUS" "" "0000313114" "0" "10" "16" "78142308" "78142308" "subst" "0.262518" "02325" "WWOX_000013" "g.78142308G>T" "" "" "" "WWOX(NM_016373.4):c.108-12G>T, WWOX(NM_016373.4):c.108-12_108-11delGTinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78108411G>T" "" "benign" "" "0000313116" "0" "10" "16" "79245582" "79245582" "subst" "0.0024937" "02325" "WWOX_000035" "g.79245582C>T" "" "" "" "WWOX(NM_016373.3):c.1134C>T (p.N378=), WWOX(NM_016373.4):c.1134C>T (p.N378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79211685C>T" "" "benign" "" "0000313117" "0" "10" "16" "78148935" "78148935" "subst" "0.0122405" "02325" "WWOX_000015" "g.78148935C>T" "" "" "" "WWOX(NM_016373.4):c.293C>T (p.P98L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78115038C>T" "" "benign" "" "0000313118" "0" "10" "16" "78312497" "78312497" "subst" "0.448806" "02325" "WWOX_000019" "g.78312497C>A" "" "" "" "WWOX(NM_016373.4):c.517-108260C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78278600C>A" "" "benign" "" "0000313119" "0" "10" "16" "78420775" "78420775" "subst" "0.451576" "02325" "WWOX_000021" "g.78420775G>A" "" "" "" "WWOX(NM_016373.4):c.535G>A (p.A179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78386878G>A" "" "benign" "" "0000313120" "0" "30" "16" "78466400" "78466400" "subst" "0.000744138" "02325" "WWOX_000027" "g.78466400C>T" "" "" "" "WWOX(NM_016373.4):c.807C>T (p.N269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432503C>T" "" "likely benign" "" "0000320027" "0" "30" "16" "78466622" "78466622" "subst" "2.84308E-5" "01943" "WWOX_000032" "g.78466622C>G" "" "" "" "WWOX(NM_016373.3):c.1029C>G (p.T343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432725C>G" "" "likely benign" "" "0000320028" "0" "30" "16" "78466628" "78466628" "subst" "0.0011575" "01943" "WWOX_000033" "g.78466628G>A" "" "" "" "WWOX(NM_016373.3):c.1035G>A (p.A345=), WWOX(NM_016373.4):c.1035G>A (p.A345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432731G>A" "" "likely benign" "" "0000320029" "0" "30" "16" "79245582" "79245582" "subst" "0.0024937" "01943" "WWOX_000035" "g.79245582C>T" "" "" "" "WWOX(NM_016373.3):c.1134C>T (p.N378=), WWOX(NM_016373.4):c.1134C>T (p.N378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79211685C>T" "" "likely benign" "" "0000320030" "0" "50" "16" "79245590" "79245590" "subst" "0.000548321" "01943" "WWOX_000009" "g.79245590G>A" "" "" "" "WWOX(NM_016373.3):c.1142G>A (p.R381H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79211693G>A" "" "VUS" "" "0000320031" "0" "30" "16" "79245645" "79245645" "subst" "0.000910044" "01943" "WWOX_000036" "g.79245645G>A" "" "" "" "WWOX(NM_016373.3):c.1197G>A (p.A399=), WWOX(NM_016373.4):c.1197G>A (p.A399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79211748G>A" "" "likely benign" "" "0000320032" "0" "30" "16" "78143724" "78143724" "subst" "8.12546E-6" "01943" "WWOX_000014" "g.78143724T>C" "" "" "" "WWOX(NM_016373.3):c.222T>C (p.F74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78109827T>C" "" "likely benign" "" "0000320033" "0" "30" "16" "78148974" "78148974" "subst" "0.000706662" "01943" "WWOX_000016" "g.78148974C>G" "" "" "" "WWOX(NM_016373.3):c.332C>G (p.T111S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78115077C>G" "" "likely benign" "" "0000320034" "0" "30" "16" "78149000" "78149000" "subst" "0.00754708" "01943" "WWOX_000017" "g.78149000C>T" "" "" "" "WWOX(NM_016373.3):c.358C>T (p.R120W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78115103C>T" "" "likely benign" "" "0000320035" "0" "30" "16" "78198091" "78198091" "subst" "0.000317378" "01943" "WWOX_000018" "g.78198091G>A" "" "" "" "WWOX(NM_016373.3):c.421G>A (p.A141T), WWOX(NM_016373.4):c.421G>A (p.A141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78164194G>A" "" "likely benign" "" "0000320036" "0" "10" "16" "78458750" "78458750" "subst" "0.133357" "01943" "WWOX_000022" "g.78458750G>A" "" "" "" "WWOX(NM_016373.3):c.606-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424853G>A" "" "benign" "" "0000320037" "0" "10" "16" "78458774" "78458774" "subst" "0.00153146" "01943" "WWOX_000023" "g.78458774C>A" "" "" "" "WWOX(NM_016373.3):c.613C>A (p.H205N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424877C>A" "" "benign" "" "0000320038" "0" "30" "16" "78466409" "78466409" "subst" "0.0025238" "01943" "WWOX_000028" "g.78466409G>T" "" "" "" "WWOX(NM_016373.3):c.816G>T (p.L272F), WWOX(NM_016373.4):c.816G>T (p.L272F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432512G>T" "" "likely benign" "" "0000320039" "0" "30" "16" "78466508" "78466508" "subst" "4.06111E-6" "01943" "WWOX_000029" "g.78466508C>T" "" "" "" "WWOX(NM_016373.3):c.915C>T (p.N305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432611C>T" "" "likely benign" "" "0000320040" "0" "30" "16" "78466526" "78466526" "subst" "2.84269E-5" "01943" "WWOX_000030" "g.78466526C>G" "" "" "" "WWOX(NM_016373.3):c.933C>G (p.L311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432629C>G" "" "likely benign" "" "0000324929" "0" "50" "16" "78458790" "78458790" "subst" "8.12275E-6" "01804" "WWOX_000024" "g.78458790A>G" "" "" "" "WWOX(NM_016373.4):c.629A>G (p.(Asn210Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424893A>G" "" "VUS" "" "0000324930" "0" "50" "16" "78458877" "78458877" "subst" "0" "01804" "WWOX_000026" "g.78458877T>G" "" "" "" "WWOX(NM_016373.2):c.716T>G (p.(Leu239Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424980T>G" "" "VUS" "" "0000324931" "0" "50" "16" "78466599" "78466599" "subst" "0" "01804" "WWOX_000031" "g.78466599T>G" "" "" "" "WWOX(NM_016373.2):c.1006T>G (p.(Trp336Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78432702T>G" "" "VUS" "" "0000324932" "0" "30" "16" "79245501" "79245501" "subst" "1.22223E-5" "01804" "WWOX_000034" "g.79245501C>T" "" "" "" "WWOX(NM_016373.2):c.1057-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79211604C>T" "" "likely benign" "" "0000338767" "0" "10" "16" "78198192" "78198192" "subst" "0.747697" "02327" "WWOX_000037" "g.78198192T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78164295T>C" "" "benign" "" "0000338768" "0" "30" "16" "78420754" "78420754" "subst" "0" "02327" "WWOX_000038" "g.78420754C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78386857C>A" "" "likely benign" "" "0000341168" "0" "50" "16" "78198091" "78198091" "subst" "0.000317378" "02327" "WWOX_000018" "g.78198091G>A" "" "" "" "WWOX(NM_016373.3):c.421G>A (p.A141T), WWOX(NM_016373.4):c.421G>A (p.A141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78164194G>A" "" "VUS" "" "0000341223" "0" "50" "16" "78420775" "78420775" "subst" "0.451576" "02327" "WWOX_000021" "g.78420775G>A" "" "" "" "WWOX(NM_016373.4):c.535G>A (p.A179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78386878G>A" "" "VUS" "" "0000351376" "0" "70" "16" "78458766" "78458766" "subst" "4.0622E-6" "02327" "WWOX_000039" "g.78458766G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424869G>A" "" "likely pathogenic" "" "0000404716" "1" "70" "16" "78143685" "78143685" "subst" "4.0624E-6" "00006" "WWOX_000040" "g.78143685C>A" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.78109788C>A" "" "likely pathogenic" "ACMG" "0000404737" "2" "70" "16" "78466511" "78466511" "del" "4.06121E-6" "00006" "WWOX_000003" "g.78466511del" "" "{PMID:Tumienė 2018:29286531}" "" "918delG" "" "Germline" "" "" "0" "" "" "g.78432614del" "" "likely pathogenic" "ACMG" "0000472549" "1" "30" "16" "79245687" "79245687" "subst" "0.00678204" "00006" "WWOX_000041" "g.79245687C>T" "" "{PMID:van Rootselaar 2017:29127138}" "" "" "" "Germline" "no" "" "0" "" "" "g.79211790C>T" "" "likely benign" "" "0000559220" "0" "50" "16" "78149048" "78149048" "subst" "8.9492E-5" "01943" "WWOX_000042" "g.78149048A>G" "" "" "" "WWOX(NM_016373.3):c.406A>G (p.I136V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78115151A>G" "" "VUS" "" "0000559221" "0" "30" "16" "78198150" "78198150" "subst" "4.06379E-6" "01943" "WWOX_000043" "g.78198150G>A" "" "" "" "WWOX(NM_016373.3):c.480G>A (p.R160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78164253G>A" "" "likely benign" "" "0000559222" "0" "50" "16" "78420851" "78420863" "del" "0" "01804" "WWOX_000044" "g.78420851_78420863del" "" "" "" "WWOX(NM_016373.2):c.605+3_605+15del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78386954_78386966del" "" "VUS" "" "0000559223" "0" "50" "16" "78458798" "78458798" "subst" "0" "01943" "WWOX_000045" "g.78458798A>T" "" "" "" "WWOX(NM_016373.3):c.637A>T (p.T213S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78424901A>T" "" "VUS" "" "0000559224" "0" "30" "16" "78458915" "78458915" "subst" "0.0233954" "02326" "WWOX_000006" "g.78458915C>G" "" "" "" "WWOX(NM_001291997.1):c.415C>G (p.(Pro139Ala)), WWOX(NM_016373.4):c.754C>G (p.P252A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78425018C>G" "" "likely benign" "" "0000559225" "0" "10" "16" "78466428" "78466428" "subst" "0.00117019" "01943" "WWOX_000046" "g.78466428C>T" "" "" "" "WWOX(NM_016373.3):c.835C>T (p.R279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432531C>T" "" "benign" "" "0000559226" "0" "30" "16" "78466469" "78466469" "subst" "0.000982837" "02326" "WWOX_000047" "g.78466469T>C" "" "" "" "WWOX(NM_016373.4):c.876T>C (p.A292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432572T>C" "" "likely benign" "" "0000559228" "0" "30" "16" "78466628" "78466628" "subst" "0.0011575" "02326" "WWOX_000033" "g.78466628G>A" "" "" "" "WWOX(NM_016373.3):c.1035G>A (p.A345=), WWOX(NM_016373.4):c.1035G>A (p.A345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432731G>A" "" "likely benign" "" "0000559229" "0" "30" "16" "79245556" "79245556" "subst" "4.06243E-6" "01804" "WWOX_000048" "g.79245556G>A" "" "" "" "WWOX(NM_016373.2):c.1108G>A (p.(Gly370Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79211659G>A" "" "likely benign" "" "0000559230" "0" "30" "16" "79245626" "79245626" "subst" "0.000519924" "01943" "WWOX_000010" "g.79245626C>T" "" "" "" "WWOX(NM_016373.3):c.1178C>T (p.T393M), WWOX(NM_016373.4):c.1178C>T (p.T393M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79211729C>T" "" "likely benign" "" "0000559231" "0" "30" "16" "79245626" "79245626" "subst" "0.000519924" "02326" "WWOX_000010" "g.79245626C>T" "" "" "" "WWOX(NM_016373.3):c.1178C>T (p.T393M), WWOX(NM_016373.4):c.1178C>T (p.T393M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79211729C>T" "" "likely benign" "" "0000559232" "0" "30" "16" "79245645" "79245645" "subst" "0.000910044" "02326" "WWOX_000036" "g.79245645G>A" "" "" "" "WWOX(NM_016373.3):c.1197G>A (p.A399=), WWOX(NM_016373.4):c.1197G>A (p.A399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79211748G>A" "" "likely benign" "" "0000559233" "0" "10" "16" "79245687" "79245687" "subst" "0.00678204" "01943" "WWOX_000041" "g.79245687C>T" "" "" "" "WWOX(NM_016373.3):c.1239C>T (p.S413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79211790C>T" "" "benign" "" "0000616155" "0" "50" "16" "79245652" "79245652" "subst" "0.00039412" "01943" "WWOX_000011" "g.79245652G>A" "" "" "" "WWOX(NM_016373.3):c.1204G>A (p.E402K), WWOX(NM_016373.4):c.1204G>A (p.(Glu402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79211755G>A" "" "VUS" "" "0000623537" "0" "30" "16" "78143669" "78143669" "subst" "2.03123E-5" "01943" "WWOX_000049" "g.78143669T>G" "" "" "" "WWOX(NM_016373.3):c.173-6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78109772T>G" "" "likely benign" "" "0000649407" "1" "10" "16" "78148935" "78148935" "subst" "0.0122405" "03575" "WWOX_000015" "g.78148935C>T" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "25 heterozygous; {DB:CLININrs144601717}" "Germline" "" "rs144601717" "0" "" "" "g.78115038C>T" "" "benign" "" "0000649408" "1" "30" "16" "78149000" "78149000" "subst" "0.00754708" "03575" "WWOX_000017" "g.78149000C>T" "77/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "77 heterozygous; {DB:CLININrs141361080}" "Germline" "" "rs141361080" "0" "" "" "g.78115103C>T" "" "likely benign" "" "0000649409" "1" "50" "16" "78466591" "78466591" "subst" "0.000125904" "03575" "WWOX_000050" "g.78466591G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs184773837}" "Germline" "" "rs184773837" "0" "" "" "g.78432694G>A" "" "VUS" "" "0000649410" "1" "10" "16" "79245686" "79245686" "subst" "0.0128928" "03575" "WWOX_000051" "g.79245686C>A" "27/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "27 heterozygous, no homozygous; {DB:CLININrs117065412}" "Germline" "" "rs117065412" "0" "" "" "g.79211789C>A" "" "benign" "" "0000657936" "0" "30" "16" "78466391" "78466391" "subst" "8.13928E-6" "01943" "WWOX_000052" "g.78466391A>C" "" "" "" "WWOX(NM_016373.3):c.798A>C (p.T266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432494A>C" "" "likely benign" "" "0000657937" "0" "30" "16" "78466409" "78466409" "subst" "0.0025238" "02326" "WWOX_000028" "g.78466409G>T" "" "" "" "WWOX(NM_016373.3):c.816G>T (p.L272F), WWOX(NM_016373.4):c.816G>T (p.L272F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78432512G>T" "" "likely benign" "" "0000665815" "3" "90" "16" "78458877" "78458877" "subst" "0" "01807" "WWOX_000026" "g.78458877T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.78424980T>G" "" "pathogenic" "" "0000669354" "3" "10" "16" "78148935" "78148935" "subst" "0.0122405" "03575" "WWOX_000015" "g.78148935C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs144601717}" "Germline" "" "rs144601717" "0" "" "" "g.78115038C>T" "" "benign" "" "0000669355" "3" "30" "16" "78149000" "78149000" "subst" "0.00754708" "03575" "WWOX_000017" "g.78149000C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs141361080}" "Germline" "" "rs141361080" "0" "" "" "g.78115103C>T" "" "likely benign" "" "0000680667" "0" "70" "16" "78143716" "78143716" "subst" "4.46871E-5" "01943" "WWOX_000053" "g.78143716C>T" "" "" "" "WWOX(NM_016373.3):c.214C>T (p.Q72*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000680668" "0" "50" "16" "78148893" "78148893" "subst" "3.24913E-5" "02325" "WWOX_000054" "g.78148893C>G" "" "" "" "WWOX(NM_016373.4):c.251C>G (p.T84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680669" "0" "30" "16" "78466481" "78466481" "subst" "0.00125483" "02326" "WWOX_000055" "g.78466481C>G" "" "" "" "WWOX(NM_016373.4):c.888C>G (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692150" "0" "70" "16" "79245652" "79245652" "subst" "0" "02327" "WWOX_000056" "g.79245652G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725980" "0" "50" "16" "78198080" "78198080" "subst" "0" "01943" "WWOX_000057" "g.78198080G>T" "" "" "" "WWOX(NM_016373.3):c.410G>T (p.G137V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725981" "0" "50" "16" "78466521" "78466521" "subst" "0.000284285" "02325" "WWOX_000058" "g.78466521C>T" "" "" "" "WWOX(NM_016373.4):c.928C>T (p.(Arg310Cys), p.R310C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763178" "3" "90" "16" "78458766" "78458766" "subst" "4.0622E-6" "00006" "WWOX_000039" "g.78458766G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.78424869G>A" "" "pathogenic" "ACMG" "0000787081" "3" "70" "16" "78458896" "78458896" "dup" "0" "00006" "WWOX_000059" "g.78458896dup" "" "{PMID:Ganapathy 2019:31069529}" "" "c.735dupT" "" "Germline" "" "" "0" "" "" "g.78424999dup" "" "likely pathogenic" "" "0000787432" "0" "50" "16" "0" "0" "" "0" "00006" "CRYM_000000" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "Large dup" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000807605" "0" "50" "16" "78143685" "78143685" "subst" "0" "02327" "WWOX_000060" "g.78143685C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807606" "0" "50" "16" "78458921" "78458921" "subst" "1.6247E-5" "01943" "WWOX_000061" "g.78458921C>T" "" "" "" "WWOX(NM_016373.3):c.760C>T (p.R254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807607" "0" "30" "16" "79245651" "79245651" "subst" "0.000386009" "02326" "WWOX_000062" "g.79245651C>T" "" "" "" "WWOX(NM_016373.4):c.1203C>T (p.S401=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846498" "3" "70" "16" "78458766" "78458766" "subst" "4.0622E-6" "00000" "WWOX_000039" "g.78458766G>A" "" "{PMID:Alabdullatif 2017:27717089}" "" "WWOX c.606-1G>A," "homozygous" "Germline" "yes" "" "0" "" "" "g.78424869G>A" "" "likely pathogenic" "" "0000864948" "0" "30" "16" "78458915" "78458915" "subst" "0.0233954" "01804" "WWOX_000006" "g.78458915C>G" "" "" "" "WWOX(NM_001291997.1):c.415C>G (p.(Pro139Ala)), WWOX(NM_016373.4):c.754C>G (p.P252A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874420" "3" "50" "16" "78466493" "78466493" "subst" "0" "00006" "WWOX_000063" "g.78466493C>A" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000893182" "0" "10" "16" "79245686" "79245686" "subst" "0.0128928" "02325" "WWOX_000051" "g.79245686C>A" "" "" "" "WWOX(NM_016373.4):c.1238C>A (p.S413Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000904850" "3" "70" "16" "78198079" "78198187" "del" "0" "00006" "WWOX_000064" "g.(78149052_78198079)_(78198187_78420756)del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "del ex5" "" "Germline" "" "" "0" "" "" "g.(78115155_78164182)_(78164290_78386859)del" "" "likely pathogenic (recessive)" "" "0000914691" "0" "50" "16" "78198091" "78198091" "subst" "0.000317378" "02325" "WWOX_000018" "g.78198091G>A" "" "" "" "WWOX(NM_016373.3):c.421G>A (p.A141T), WWOX(NM_016373.4):c.421G>A (p.A141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926348" "0" "90" "16" "78458850" "78458850" "subst" "1.21843E-5" "02327" "WWOX_000025" "g.78458850A>C" "" "" "" "WWOX(NM_016373.3):c.689A>C (p.Q230P), WWOX(NM_016373.4):c.689A>C (p.(Gln230Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000936497" "11" "70" "16" "78133706" "78133706" "subst" "0" "00006" "WWOX_000065" "g.78133706G>A" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "Germline" "" "" "0" "" "" "g.78099809G>A" "" "likely pathogenic (recessive)" "" "0000936498" "21" "90" "16" "78420793" "78420806" "del" "4.06468E-6" "00006" "WWOX_000066" "g.78420793_78420806del" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "Germline" "" "" "0" "" "" "g.78386896_78386909del" "" "pathogenic (recessive)" "" "0000982094" "0" "50" "16" "78466521" "78466521" "subst" "0.000284285" "01804" "WWOX_000058" "g.78466521C>T" "" "" "" "WWOX(NM_016373.4):c.928C>T (p.(Arg310Cys), p.R310C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982095" "0" "50" "16" "79245652" "79245652" "subst" "0.00039412" "01804" "WWOX_000011" "g.79245652G>A" "" "" "" "WWOX(NM_016373.3):c.1204G>A (p.E402K), WWOX(NM_016373.4):c.1204G>A (p.(Glu402Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002596" "0" "30" "16" "78466534" "78466534" "subst" "0.00810578" "01804" "WWOX_000067" "g.78466534G>A" "" "" "" "WWOX(NM_016373.2):c.941G>A (p.(Arg314His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002597" "0" "50" "16" "79245686" "79245686" "subst" "2.44491E-5" "02325" "WWOX_000068" "g.79245686C>G" "" "" "" "WWOX(NM_016373.4):c.1238C>G (p.S413C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002598" "0" "30" "16" "79245726" "79245726" "subst" "0.00403462" "01804" "WWOX_000069" "g.79245726G>C" "" "" "" "WWOX(NM_016373.2):c.*33G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026761" "0" "30" "16" "78142306" "78142307" "dup" "0.000848652" "02326" "WWOX_000070" "g.78142306_78142307dup" "" "" "" "WWOX(NM_016373.4):c.108-14_108-13dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041372" "0" "50" "16" "78420808" "78420808" "subst" "5.28425E-5" "01804" "WWOX_000071" "g.78420808G>A" "" "" "" "WWOX(NM_016373.4):c.568G>A (p.(Val190Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041373" "0" "90" "16" "78458850" "78458850" "subst" "1.21843E-5" "01804" "WWOX_000025" "g.78458850A>C" "" "" "" "WWOX(NM_016373.3):c.689A>C (p.Q230P), WWOX(NM_016373.4):c.689A>C (p.(Gln230Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001041374" "0" "50" "16" "79245568" "79245568" "subst" "0" "01804" "WWOX_000072" "g.79245568A>T" "" "" "" "WWOX(NM_016373.4):c.1120A>T (p.(Met374Leu))" "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 WWOX ## Count = 102 "{{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}}" "0000129991" "00022888" "70" "173" "-1" "173" "-1" "c.173-1G>T" "r.spl" "p.?" "" "0000129992" "00022888" "70" "918" "0" "918" "0" "c.918del" "r.(?)" "p.(Glu306Aspfs*21)" "" "0000130020" "00022888" "70" "409" "1" "409" "1" "c.409+1G>T" "r.spl?" "p.?" "" "0000188183" "00022888" "00" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Arg104Trp)" "" "0000188191" "00022888" "00" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381His)" "" "0000188196" "00022888" "00" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Thr393Met)" "" "0000188251" "00022888" "00" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000188318" "00022888" "00" "946" "0" "946" "0" "c.946G>C" "r.(?)" "p.(Val316Leu)" "" "0000188344" "00022888" "00" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000188386" "00022888" "00" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Pro252Ala)" "" "0000188389" "00022888" "00" "990" "0" "990" "0" "c.990C>G" "r.(?)" "p.(Asn330Lys)" "" "0000188468" "00022888" "00" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000188472" "00022888" "00" "635" "0" "635" "0" "c.635C>T" "r.(?)" "p.(Ala212Val)" "" "0000248260" "00022888" "10" "517" "-108230" "517" "-108230" "c.517-108230A>G" "r.(=)" "p.(=)" "" "0000251706" "00022888" "30" "517" "-108230" "517" "-108230" "c.517-108230A>G" "r.(=)" "p.(=)" "" "0000256429" "00022888" "50" "689" "0" "689" "0" "c.689A>C" "r.(?)" "p.(Gln230Pro)" "" "0000313114" "00022888" "10" "108" "-12" "108" "-12" "c.108-12G>T" "r.(=)" "p.(=)" "" "0000313116" "00022888" "10" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asn378=)" "" "0000313117" "00022888" "10" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0000313118" "00022888" "10" "517" "-108260" "517" "-108260" "c.517-108260C>A" "r.(=)" "p.(=)" "" "0000313119" "00022888" "10" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "" "0000313120" "00022888" "30" "807" "0" "807" "0" "c.807C>T" "r.(?)" "p.(Asn269=)" "" "0000320027" "00022888" "30" "1029" "0" "1029" "0" "c.1029C>G" "r.(?)" "p.(Thr343=)" "" "0000320028" "00022888" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Ala345=)" "" "0000320029" "00022888" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Asn378=)" "" "0000320030" "00022888" "50" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Arg381His)" "" "0000320031" "00022888" "30" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Ala399=)" "" "0000320032" "00022888" "30" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(Phe74=)" "" "0000320033" "00022888" "30" "332" "0" "332" "0" "c.332C>G" "r.(?)" "p.(Thr111Ser)" "" "0000320034" "00022888" "30" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000320035" "00022888" "30" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0000320036" "00022888" "10" "606" "-17" "606" "-17" "c.606-17G>A" "r.(=)" "p.(=)" "" "0000320037" "00022888" "10" "613" "0" "613" "0" "c.613C>A" "r.(?)" "p.(His205Asn)" "" "0000320038" "00022888" "30" "816" "0" "816" "0" "c.816G>T" "r.(?)" "p.(Leu272Phe)" "" "0000320039" "00022888" "30" "915" "0" "915" "0" "c.915C>T" "r.(?)" "p.(Asn305=)" "" "0000320040" "00022888" "30" "933" "0" "933" "0" "c.933C>G" "r.(?)" "p.(Leu311=)" "" "0000324929" "00022888" "50" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Asn210Ser)" "" "0000324930" "00022888" "50" "716" "0" "716" "0" "c.716T>G" "r.(?)" "p.(Leu239Arg)" "" "0000324931" "00022888" "50" "1006" "0" "1006" "0" "c.1006T>G" "r.(?)" "p.(Trp336Gly)" "" "0000324932" "00022888" "30" "1057" "-4" "1057" "-4" "c.1057-4C>T" "r.spl?" "p.?" "" "0000338767" "00022888" "10" "516" "6" "516" "6" "c.516+6T>C" "r.(=)" "p.(=)" "" "0000338768" "00022888" "30" "517" "-3" "517" "-3" "c.517-3C>A" "r.spl?" "p.?" "" "0000341168" "00022888" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0000341223" "00022888" "50" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" "" "0000351376" "00022888" "70" "606" "-1" "606" "-1" "c.606-1G>A" "r.spl?" "p.?" "" "0000404716" "00022888" "70" "183" "0" "183" "0" "c.183C>A" "r.(?)" "p.(Tyr61*)" "3" "0000404737" "00022888" "70" "918" "0" "918" "0" "c.918del" "r.(?)" "p.(Glu306Aspfs*21)" "5" "0000472549" "00022888" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(=)" "" "0000559220" "00022888" "50" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Ile136Val)" "" "0000559221" "00022888" "30" "480" "0" "480" "0" "c.480G>A" "r.(?)" "p.(Arg160=)" "" "0000559222" "00022888" "50" "605" "6" "605" "18" "c.605+6_605+18del" "r.(=)" "p.(=)" "" "0000559223" "00022888" "50" "637" "0" "637" "0" "c.637A>T" "r.(?)" "p.(Thr213Ser)" "" "0000559224" "00022888" "30" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Pro252Ala)" "" "0000559225" "00022888" "10" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" "0000559226" "00022888" "30" "876" "0" "876" "0" "c.876T>C" "r.(?)" "p.(Ala292=)" "" "0000559228" "00022888" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Ala345=)" "" "0000559229" "00022888" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Gly370Ser)" "" "0000559230" "00022888" "30" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Thr393Met)" "" "0000559231" "00022888" "30" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Thr393Met)" "" "0000559232" "00022888" "30" "1197" "0" "1197" "0" "c.1197G>A" "r.(?)" "p.(Ala399=)" "" "0000559233" "00022888" "10" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Ser413=)" "" "0000616155" "00022888" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0000623537" "00022888" "30" "173" "-6" "173" "-6" "c.173-6T>G" "r.(=)" "p.(=)" "" "0000649407" "00022888" "10" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0000649408" "00022888" "30" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000649409" "00022888" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333His)" "" "0000649410" "00022888" "10" "1238" "0" "1238" "0" "c.1238C>A" "r.(?)" "p.(Ser413Tyr)" "" "0000657936" "00022888" "30" "798" "0" "798" "0" "c.798A>C" "r.(?)" "p.(Thr266=)" "" "0000657937" "00022888" "30" "816" "0" "816" "0" "c.816G>T" "r.(?)" "p.(Leu272Phe)" "" "0000665815" "00022888" "90" "716" "0" "716" "0" "c.716T>G" "r.(?)" "p.(Leu239Arg)" "" "0000669354" "00022888" "10" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0000669355" "00022888" "30" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000680667" "00022888" "70" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Gln72Ter)" "" "0000680668" "00022888" "50" "251" "0" "251" "0" "c.251C>G" "r.(?)" "p.(Thr84Ser)" "" "0000680669" "00022888" "30" "888" "0" "888" "0" "c.888C>G" "r.(?)" "p.(Ser296=)" "" "0000692150" "00022888" "70" "1204" "0" "1204" "0" "c.1204G>T" "r.(?)" "p.(Glu402Ter)" "" "0000725980" "00022888" "50" "410" "0" "410" "0" "c.410G>T" "r.(?)" "p.(Gly137Val)" "" "0000725981" "00022888" "50" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Cys)" "" "0000763178" "00022888" "90" "606" "-1" "606" "-1" "c.606-1G>A" "r.spl" "p.?" "" "0000787081" "00022888" "70" "735" "0" "735" "0" "c.735dup" "r.(?)" "p.(Val246CysfsTer24)" "7" "0000787432" "00022888" "50" "1056" "1" "5171" "0" "c.(516+1_5171)_(1056+1_1057-1)dup" "r.?" "p.?" "5i_8i" "0000807605" "00022888" "50" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Tyr61*)" "" "0000807606" "00022888" "50" "760" "0" "760" "0" "c.760C>T" "r.(?)" "p.(Arg254Cys)" "" "0000807607" "00022888" "30" "1203" "0" "1203" "0" "c.1203C>T" "r.(?)" "p.(Ser401=)" "" "0000846498" "00022888" "70" "606" "-1" "606" "-1" "c.606-1G>A" "r.(?)" "p.(?)" "" "0000864948" "00022888" "30" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Pro252Ala)" "" "0000874420" "00022888" "50" "900" "0" "900" "0" "c.900C>A" "r.(?)" "p.(Asn300Lys)" "" "0000893182" "00022888" "10" "1238" "0" "1238" "0" "c.1238C>A" "r.(?)" "p.(Ser413Tyr)" "" "0000904850" "00022888" "70" "410" "-1" "516" "1" "c.(409+1_410-1)_(516+1_517-1)del" "r.?" "p.?" "4i_5i" "0000914691" "00022888" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0000926348" "00022888" "90" "689" "0" "689" "0" "c.689A>C" "r.(?)" "p.(Gln230Pro)" "" "0000936497" "00022888" "70" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Asp11Asn)" "" "0000936498" "00022888" "90" "553" "0" "566" "0" "c.553_566del" "r.(?)" "p.(Ala185Argfs*6)" "" "0000982094" "00022888" "50" "928" "0" "928" "0" "c.928C>T" "r.(?)" "p.(Arg310Cys)" "" "0000982095" "00022888" "50" "1204" "0" "1204" "0" "c.1204G>A" "r.(?)" "p.(Glu402Lys)" "" "0001002596" "00022888" "30" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Arg314His)" "" "0001002597" "00022888" "50" "1238" "0" "1238" "0" "c.1238C>G" "r.(?)" "p.(Ser413Cys)" "" "0001002598" "00022888" "30" "1278" "0" "1278" "0" "c.*33G>C" "r.(=)" "p.(=)" "" "0001026761" "00022888" "30" "108" "-14" "108" "-13" "c.108-14_108-13dup" "r.(=)" "p.(=)" "" "0001041372" "00022888" "50" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Val190Met)" "" "0001041373" "00022888" "90" "689" "0" "689" "0" "c.689A>C" "r.(?)" "p.(Gln230Pro)" "" "0001041374" "00022888" "50" "1120" "0" "1120" "0" "c.1120A>T" "r.(?)" "p.(Met374Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 31 "{{screeningid}}" "{{variantid}}" "0000080912" "0000129991" "0000080912" "0000129992" "0000080934" "0000130020" "0000117338" "0000188183" "0000117346" "0000188191" "0000117351" "0000188196" "0000117365" "0000188468" "0000117374" "0000188472" "0000117406" "0000188251" "0000117473" "0000188318" "0000117512" "0000188344" "0000117546" "0000188386" "0000117549" "0000188389" "0000181080" "0000404716" "0000181080" "0000404737" "0000230872" "0000472549" "0000292718" "0000649407" "0000292719" "0000649408" "0000292720" "0000649409" "0000292721" "0000649410" "0000302525" "0000665815" "0000305666" "0000669354" "0000305667" "0000669355" "0000362804" "0000763178" "0000375730" "0000787081" "0000376081" "0000787432" "0000409344" "0000846498" "0000416358" "0000874420" "0000427490" "0000904850" "0000440203" "0000936497" "0000440203" "0000936498"