### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZEB2) # 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}}" "ZEB2" "zinc finger E-box binding homeobox 2" "2" "q22.3" "unknown" "NG_016431.1" "UD_132118837198" "" "https://www.LOVD.nl/ZEB2" "" "1" "14881" "9839" "605802" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ZEB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2017-11-24 12:29:04" "00000" "2025-11-01 13:22:20" ## 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}}" "00000043" "ZEB2" "zinc finger E-box binding homeobox 2, transcript variant 1" "002" "NM_014795.3" "" "NP_055610.1" "" "" "" "-522" "8721" "3645" "145277958" "145141942" "00002" "2012-05-11 13:11:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00568" "MOWS" "Mowat-Wilson syndrome" "AD" "235730" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01926" "MEOAL;MMDS8" "mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy" "AR" "251900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-25 10:11:25" "03475" "HCAD" "Hirschsprung disease, cardiac defects, autonomic dysfunction (HCAD)" "AD" "613870" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZEB2" "00139" "ZEB2" "00568" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00037447" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037448" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037449" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037450" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00081000" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00102081" "" "" "" "1" "" "01864" "" "" "F" "no" "China" ">08y" "" "" "" "" "P10" "00133267" "" "" "" "1" "" "02312" "" "" "M" "" "Hong Kong" "" "0" "" "" "" "HK164C" "00150166" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB3413" "00292250" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316084" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K107" "00319997" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00374452" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-495" "00374537" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2908" "00444047" "" "" "" "1" "" "00006" "{PMID:Sarker 2023:38057384}" "no family history" "M" "" "Bangladesh" "" "0" "" "" "" "PID_15" "00449560" "" "" "" "1" "" "01164" "" "" "F" "no" "Turkey" "" "0" "" "" "" "290575" "00453808" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV249" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00037448" "01926" "00037449" "00198" "00037450" "00198" "00081000" "00568" "00102081" "00139" "00133267" "03475" "00150166" "00198" "00292250" "00198" "00316084" "05342" "00319997" "00198" "00374452" "00198" "00374537" "00198" "00444047" "05324" "00449560" "00568" "00453808" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 00568, 01926, 03475, 05324, 05342 ## Count = 13 "{{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}}" "0000060569" "00568" "00081000" "01758" "Isolated (sporadic)" "" "Mowat-Wilson syndrome (OMIM:235730)" "" "" "" "" "" "" "" "" "" "" "" "0000080267" "00139" "00102081" "01864" "Isolated (sporadic)" "" "HP:0000252; HP:0001999; HP:0001250; HP:0007364; intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000122568" "00198" "00150166" "00006" "Familial, autosomal dominant" "" "intellectual diability, CCA, severe intellectual diability, epilepsy, no ambulation, pointed chin, cupped ears" "" "" "" "" "" "" "" "" "" "" "" "0000156902" "01926" "00037448" "01164" "Unknown" "" "Mowat-Wilson syndrome" "" "" "" "" "" "" "" "" "" "Mowat-Wilson syndrome" "" "0000156903" "00198" "00037449" "01164" "Unknown" "" "CGH-array complex dysmorphy, kraniofaziale Dysmorphie, verstrichenes Philtrum, wide thumbs, Fingerpads, lange dichte Wimpern, Scapulae alatae, Enkopresis" "" "" "" "" "" "" "" "" "" "dysmorphic" "" "0000156904" "00198" "00037450" "01164" "Unknown" "" "developmental delay" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000239831" "05342" "00316084" "00006" "Unknown" "" "renal hypoplasia; preauricular pits" "" "" "" "" "" "" "" "" "" "renal hypoplasia" "" "0000242042" "00198" "00319997" "01807" "Unknown" "" "Delayed speech and language development (HP:0000750); Seizure (HP:0001250); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000269662" "00198" "00374452" "00006" "Familial, autosomal dominant" "" "Craniosynostosis, macrocephaly, seizures, behavioural problems, delayed speech, hypermetropia, papilliedema and slender fingers" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000269747" "00198" "00374537" "00006" "Familial, autosomal dominant" "" "Developmental delay, dolichocephaly, bilaterally raised ear lobule, broadening of eyelashes and undescended testis" "" "" "" "" "" "" "" "" "" "Mowat-Wilson syndrome" "" "0000333304" "05324" "00444047" "00006" "Unknown" "" "calf hypertrophy; Gower sign positive; elevated CPK; no feeding difficulties; no toe walking; poor walking/running ability; no difficulty climbing stairs; no waddling feet/gait; two seizures; muscle weakness; no skinny legs/arms; delayed developmental milestones; no intellectual disability; no delayed speech; not hyperactive" "" "" "" "" "" "" "" "" "" "DMD" "" "0000338735" "00568" "00449560" "01164" "Isolated (sporadic)" "02y" "Neurodevelopmental delay, Ventricular septal defect, Patent ductus arteriosus, Complex febrile seizure, Microcephaly, Delayed speech and language development, Hypertelorism, Abnormality of the face, Delayed gross motor development" "" "" "" "" "" "" "" "" "" "" "" "0000342465" "00152" "00453808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000037517" "00037447" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037518" "00037448" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037519" "00037449" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037520" "00037450" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000081112" "00081000" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000102530" "00102081" "1" "01864" "01864" "2017-03-30 08:25:52" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000134104" "00133267" "1" "02312" "02312" "2017-11-15 10:08:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000151021" "00150166" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000293418" "00292250" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317266" "00316084" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000321179" "00319997" "1" "01807" "01807" "2020-11-16 11:53:01" "" "" "SEQ" "DNA" "" "" "0000375646" "00374452" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375731" "00374537" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000445544" "00444047" "1" "00006" "00006" "2023-12-11 17:21:28" "" "" "PCRm;SEQ-NG" "DNA" "" "WES" "0000451150" "00449560" "1" "01164" "01164" "2024-04-23 11:23:52" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000455420" "00453808" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000037517" "ZEB2" "0000037518" "ZEB2" "0000037519" "ZEB2" "0000037520" "ZEB2" "0000081112" "ZEB2" "0000102530" "ZEB2" "0000151021" "ZEB2" "0000317266" "GPR173" "0000317266" "MYOCD" "0000317266" "ZEB2" "0000375646" "PTEN" "0000375731" "ZEB2" "0000445544" "DMD" "0000451150" "ZEB2" ## 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 = 151 "{{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}}" "0000000871" "3" "50" "2" "145161902" "145161902" "subst" "0" "00002" "ZEB2_000001" "g.145161902A>G" "" "{PMID:Almomani 2011:21102627} {dbSNP:13009259}" "" "" "" "Germline" "" "" "" "" "" "g.144404335A>G" "" "VUS" "" "0000064642" "1" "10" "2" "145153973" "145153973" "subst" "0.0171919" "01164" "ZEB2_000004" "g.145153973T>A" "" "" "" "" "" "Germline" "" "rs143450927" "0" "" "" "g.144396406T>A" "" "benign" "" "0000064643" "1" "10" "2" "145157858" "145157858" "subst" "0.119333" "01164" "ZEB2_000002" "g.145157858A>G" "" "" "" "" "" "Germline" "" "rs35213774" "0" "" "" "g.144400291A>G" "" "benign" "" "0000064644" "1" "50" "2" "145157478" "145157478" "subst" "0.000365791" "01164" "ZEB2_000003" "g.145157478A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.144399911A>T" "" "VUS" "" "0000064645" "1" "10" "2" "145156906" "145156906" "subst" "0.000183383" "01164" "ZEB2_000005" "g.145156906A>C" "" "" "" "" "" "Germline" "" "rs144835963" "0" "" "" "g.144399339A>C" "" "benign" "" "0000130198" "0" "70" "2" "145155985" "145155985" "subst" "0" "01758" "ZEB2_000006" "g.145155985G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.144398418G>T" "" "likely pathogenic" "ACMG" "0000165272" "0" "90" "2" "145161578" "145161578" "subst" "0" "01864" "ZEB2_000007" "g.145161578C>A" "" "" "" "" "" "De novo" "" "" "0" "blood" "" "g.144404011C>A" "" "pathogenic" "" "0000223792" "0" "30" "2" "145137510" "145137510" "subst" "0" "02312" "ZEB2_000008" "g.145137510C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.144379943C>T" "" "likely benign" "" "0000244182" "1" "90" "2" "145187394" "145187400" "del" "0" "00006" "ZEB2_000009" "g.145187394_145187400del" "" "{PMID:Karaca 2015:26539891}" "" "NM_014795: c.271_277del; p.91_93del" "" "Germline" "" "" "0" "" "" "g.144429827_144429833del" "" "pathogenic" "" "0000251232" "0" "10" "2" "145146513" "145146513" "del" "0" "02326" "ZEB2_000011" "g.145146513del" "" "" "" "ZEB2(NM_014795.4):c.*514delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144388946del" "" "benign" "" "0000251233" "0" "10" "2" "145146991" "145146991" "del" "0" "02326" "ZEB2_000012" "g.145146991del" "" "" "" "ZEB2(NM_014795.4):c.*35delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389424del" "" "benign" "" "0000251234" "0" "10" "2" "145146990" "145146990" "subst" "0" "02326" "ZEB2_000013" "g.145146990A>T" "" "" "" "ZEB2(NM_014795.4):c.*28T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389423A>T" "" "benign" "" "0000251235" "0" "10" "2" "145162784" "145162784" "subst" "0" "02326" "ZEB2_000083" "g.145162784A>C" "" "" "" "ZEB2(NM_014795.4):c.404-193T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144405217A>C" "" "benign" "" "0000251909" "0" "30" "2" "145157478" "145157478" "subst" "0.000365791" "02326" "ZEB2_000003" "g.145157478A>T" "" "" "" "ZEB2(NM_014795.3):c.1276T>A (p.L426I), ZEB2(NM_014795.4):c.1276T>A (p.L426I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399911A>T" "" "likely benign" "" "0000313131" "0" "50" "2" "145187467" "145187467" "subst" "0" "02325" "ZEB2_000039" "g.145187467T>C" "" "" "" "ZEB2(NM_014795.4):c.200A>G (p.N67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144429900T>C" "" "VUS" "" "0000313132" "0" "30" "2" "145156612" "145156612" "subst" "0.000341586" "02325" "ZEB2_000028" "g.145156612C>T" "" "" "" "ZEB2(NM_014795.4):c.2142G>A (p.P714=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399045C>T" "" "likely benign" "" "0000313133" "0" "70" "2" "145153979" "145153979" "subst" "0" "02325" "ZEB2_000019" "g.145153979C>G" "" "" "" "ZEB2(NM_014795.4):c.3067G>C (p.G1023R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144396412C>G" "" "likely pathogenic" "" "0000313134" "0" "30" "2" "145161492" "145161492" "subst" "0.000552432" "02325" "ZEB2_000035" "g.145161492C>G" "" "" "" "ZEB2(NM_014795.4):c.798G>C (p.(Gly266=), p.G266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144403925C>G" "" "likely benign" "" "0000315528" "0" "30" "2" "145156613" "145156613" "subst" "0.00286267" "02326" "ZEB2_000029" "g.145156613G>A" "" "" "" "ZEB2(NM_014795.3):c.2141C>T (p.P714L, p.(Pro714Leu)), ZEB2(NM_014795.4):c.2141C>T (p.P714L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399046G>A" "" "likely benign" "" "0000315529" "0" "30" "2" "145156551" "145156551" "subst" "0.00250313" "02326" "ZEB2_000027" "g.145156551G>A" "" "" "" "ZEB2(NM_014795.4):c.2203C>T (p.P735S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398984G>A" "" "likely benign" "" "0000315530" "0" "30" "2" "145156524" "145156524" "subst" "0.00207191" "02326" "ZEB2_000024" "g.145156524T>C" "" "" "" "ZEB2(NM_014795.4):c.2230A>G (p.I744V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398957T>C" "" "likely benign" "" "0000315531" "0" "30" "2" "145187372" "145187372" "subst" "8.13882E-6" "02326" "ZEB2_000038" "g.145187372T>C" "" "" "" "ZEB2(NM_014795.4):c.295A>G (p.N99D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144429805T>C" "" "likely benign" "" "0000315532" "0" "30" "2" "145187363" "145187363" "subst" "0.000280929" "02326" "ZEB2_000037" "g.145187363T>A" "" "" "" "ZEB2(NM_014795.3):c.304A>T (p.I102F), ZEB2(NM_014795.4):c.304A>T (p.I102F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144429796T>A" "" "likely benign" "" "0000315533" "0" "10" "2" "145153944" "145153944" "subst" "0" "02326" "ZEB2_000018" "g.145153944G>C" "" "" "" "ZEB2(NM_014795.4):c.3067+35C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144396377G>C" "" "benign" "" "0000315534" "0" "10" "2" "145153973" "145153973" "subst" "0.0171919" "02326" "ZEB2_000004" "g.145153973T>A" "" "" "" "ZEB2(NM_001171653.1):c.2995+6A>T (p.(=)), ZEB2(NM_014795.4):c.3067+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144396406T>A" "" "benign" "" "0000315535" "0" "70" "2" "145147577" "145147577" "subst" "0" "02326" "ZEB2_000017" "g.145147577C>A" "" "" "" "ZEB2(NM_014795.4):c.3086G>T (p.C1029F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144390010C>A" "" "likely pathogenic" "" "0000315536" "0" "30" "2" "145157824" "145157824" "subst" "0.00388894" "02326" "ZEB2_000034" "g.145157824G>A" "" "" "" "ZEB2(NM_014795.4):c.930C>T (p.(Tyr310=), p.Y310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144400257G>A" "" "likely benign" "" "0000320123" "0" "90" "2" "145157727" "145157727" "subst" "0" "01943" "ZEB2_000033" "g.145157727G>A" "" "" "" "ZEB2(NM_014795.3):c.1027C>T (p.R343*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144400160G>A" "" "pathogenic" "" "0000320124" "0" "50" "2" "145157303" "145157303" "subst" "0" "01943" "ZEB2_000032" "g.145157303G>A" "" "" "" "ZEB2(NM_014795.3):c.1451C>T (p.S484L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399736G>A" "" "VUS" "" "0000320125" "0" "50" "2" "145155961" "145155961" "subst" "0" "01943" "ZEB2_000023" "g.145155961G>C" "" "" "" "ZEB2(NM_014795.3):c.2793C>G (p.F931L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398394G>C" "" "VUS" "" "0000320126" "0" "30" "2" "145154073" "145154073" "subst" "0.000138123" "01943" "ZEB2_000022" "g.145154073G>A" "" "" "" "ZEB2(NM_014795.3):c.2973C>T (p.I991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144396506G>A" "" "likely benign" "" "0000320127" "0" "30" "2" "145187363" "145187363" "subst" "0.000280929" "01943" "ZEB2_000037" "g.145187363T>A" "" "" "" "ZEB2(NM_014795.3):c.304A>T (p.I102F), ZEB2(NM_014795.4):c.304A>T (p.I102F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144429796T>A" "" "likely benign" "" "0000320128" "0" "30" "2" "145161654" "145161654" "subst" "0" "01943" "ZEB2_000036" "g.145161654G>A" "" "" "" "ZEB2(NM_014795.3):c.636C>T (p.T212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144404087G>A" "" "likely benign" "" "0000327261" "0" "50" "2" "145147171" "145147171" "subst" "0" "01804" "ZEB2_000014" "g.145147171C>A" "" "" "" "ZEB2(NM_014795.3):c.3492G>T (p.(Glu1164Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389604C>A" "" "VUS" "" "0000327262" "0" "50" "2" "145147194" "145147194" "subst" "0" "01804" "ZEB2_000015" "g.145147194C>A" "" "" "" "ZEB2(NM_014795.3):c.3469G>T (p.(Asp1157Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389627C>A" "" "VUS" "" "0000327264" "0" "30" "2" "145153973" "145153973" "subst" "0.0171919" "01804" "ZEB2_000004" "g.145153973T>A" "" "" "" "ZEB2(NM_001171653.1):c.2995+6A>T (p.(=)), ZEB2(NM_014795.4):c.3067+6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144396406T>A" "" "likely benign" "" "0000327265" "0" "50" "2" "145153996" "145153996" "subst" "0" "01804" "ZEB2_000020" "g.145153996T>C" "" "" "" "ZEB2(NM_014795.3):c.3050A>G (p.(His1017Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144396429T>C" "" "VUS" "" "0000327266" "0" "50" "2" "145154049" "145154056" "del" "0" "01804" "ZEB2_000021" "g.145154049_145154056del" "" "" "" "ZEB2(NM_014795.3):c.2996_3003del (p.(Tyr999Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144396482_144396489del" "" "VUS" "" "0000327267" "0" "50" "2" "145156536" "145156536" "subst" "0" "01804" "ZEB2_000025" "g.145156536T>C" "" "" "" "ZEB2(NM_001171653.1):c.2146A>G (p.(Thr716Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398969T>C" "" "VUS" "" "0000327268" "0" "50" "2" "145156550" "145156550" "subst" "1.21904E-5" "01804" "ZEB2_000026" "g.145156550G>C" "" "" "" "ZEB2(NM_014795.3):c.2204C>G (p.(Pro735Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398983G>C" "" "VUS" "" "0000327269" "0" "30" "2" "145156613" "145156613" "subst" "0.00286267" "01804" "ZEB2_000029" "g.145156613G>A" "" "" "" "ZEB2(NM_014795.3):c.2141C>T (p.P714L, p.(Pro714Leu)), ZEB2(NM_014795.4):c.2141C>T (p.P714L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399046G>A" "" "likely benign" "" "0000327270" "0" "50" "2" "145157005" "145157005" "subst" "0" "01804" "ZEB2_000031" "g.145157005G>T" "" "" "" "ZEB2(NM_014795.3):c.1749C>A (p.(Cys583Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399438G>T" "" "VUS" "" "0000339459" "0" "10" "2" "145157167" "145157167" "subst" "0.000203189" "02327" "ZEB2_000055" "g.145157167C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399600C>T" "" "benign" "" "0000342580" "0" "90" "2" "145158778" "145158778" "subst" "0" "02327" "ZEB2_000058" "g.145158778G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144401211G>A" "" "pathogenic" "" "0000343277" "0" "90" "2" "145156671" "145156671" "subst" "0" "02327" "ZEB2_000050" "g.145156671G>A" "" "" "" "ZEB2(NM_014795.3):c.2083C>T (p.(Arg695Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399104G>A" "" "pathogenic" "" "0000344229" "0" "70" "2" "145147493" "145147493" "subst" "0" "02327" "ZEB2_000043" "g.145147493C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389926C>T" "" "likely pathogenic" "" "0000344269" "0" "90" "2" "145162575" "145162575" "subst" "0" "02327" "ZEB2_000063" "g.145162575G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144405008G>T" "" "pathogenic" "" "0000344723" "0" "90" "2" "145158871" "145158871" "subst" "0" "02327" "ZEB2_000060" "g.145158871G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144401304G>A" "" "pathogenic" "" "0000345041" "0" "50" "2" "145147533" "145147533" "subst" "0" "02327" "ZEB2_000044" "g.145147533C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389966C>T" "" "VUS" "" "0000345567" "0" "90" "2" "145156278" "145156278" "subst" "0" "02327" "ZEB2_000047" "g.145156278C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398711C>A" "" "pathogenic" "" "0000346443" "0" "90" "2" "145158796" "145158796" "subst" "0" "02327" "ZEB2_000059" "g.145158796G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144401229G>A" "" "pathogenic" "" "0000347735" "0" "50" "2" "145147068" "145147068" "subst" "0" "02327" "ZEB2_000041" "g.145147068T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389501T>A" "" "VUS" "" "0000348644" "0" "70" "2" "145147463" "145147463" "subst" "0" "02327" "ZEB2_000042" "g.145147463G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144389896G>A" "" "likely pathogenic" "" "0000348941" "0" "90" "2" "145157774" "145157774" "subst" "0" "02327" "ZEB2_000057" "g.145157774G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144400207G>T" "" "pathogenic" "" "0000350165" "0" "90" "2" "145156798" "145156798" "subst" "0" "02327" "ZEB2_000052" "g.145156798G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144399231G>C" "" "pathogenic" "" "0000350198" "0" "90" "2" "145156351" "145156351" "subst" "0" "02327" "ZEB2_000048" "g.145156351G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398784G>C" "" "pathogenic" "" "0000350220" "0" "90" "2" "145155889" "145155889" "subst" "0" "02327" "ZEB2_000045" "g.145155889G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144398322G>T" "" "pathogenic" "" "0000509313" "0" "30" "2" "145146513" "145146513" "dup" "0" "02326" "ZEB2_000066" "g.145146513dup" "" "" "" "ZEB2(NM_014795.4):c.*514dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144388946dup" "" "likely benign" "" "0000509314" "0" "30" "2" "145147192" "145147192" "subst" "0.000475169" "01943" "ZEB2_000067" "g.145147192G>A" "" "" "" "ZEB2(NM_014795.3):c.3471C>T (p.D1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144389625G>A" "" "likely benign" "" "0000509315" "0" "50" "2" "145147231" "145147231" "subst" "4.46846E-5" "01943" "ZEB2_000068" "g.145147231G>A" "" "" "" "ZEB2(NM_014795.3):c.3432C>T (p.G1144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144389664G>A" "" "VUS" "" "0000509316" "0" "90" "2" "145147448" "145147448" "subst" "0" "02327" "ZEB2_000069" "g.145147448T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144389881T>C" "" "pathogenic" "" "0000509317" "0" "90" "2" "145147466" "145147466" "dup" "0" "02325" "ZEB2_000070" "g.145147466dup" "" "" "" "ZEB2(NM_014795.4):c.3197dupA (p.H1066Qfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144389899dup" "" "pathogenic" "" "0000509318" "0" "10" "2" "145153943" "145153943" "subst" "0" "02326" "ZEB2_000071" "g.145153943G>C" "" "" "" "ZEB2(NM_014795.4):c.3067+36C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144396376G>C" "" "benign" "" "0000509319" "0" "70" "2" "145154036" "145154036" "subst" "0" "02327" "ZEB2_000072" "g.145154036A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144396469A>G" "" "likely pathogenic" "" "0000509321" "0" "30" "2" "145157212" "145157212" "subst" "8.53478E-5" "02325" "ZEB2_000073" "g.145157212C>A" "" "" "" "ZEB2(NM_014795.4):c.1542G>T (p.P514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144399645C>A" "" "likely benign" "" "0000509322" "0" "50" "2" "145157262" "145157262" "subst" "4.06468E-6" "02325" "ZEB2_000074" "g.145157262G>A" "" "" "" "ZEB2(NM_014795.4):c.1492C>T (p.P498S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144399695G>A" "" "VUS" "" "0000509323" "0" "30" "2" "145157274" "145157274" "subst" "0.00195174" "01943" "ZEB2_000075" "g.145157274G>A" "" "" "" "ZEB2(NM_014795.3):c.1480C>T (p.P494S, p.(Pro494Ser)), ZEB2(NM_014795.4):c.1480C>T (p.P494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144399707G>A" "" "likely benign" "" "0000509324" "0" "30" "2" "145157274" "145157274" "subst" "0.00195174" "01804" "ZEB2_000075" "g.145157274G>A" "" "" "" "ZEB2(NM_014795.3):c.1480C>T (p.P494S, p.(Pro494Ser)), ZEB2(NM_014795.4):c.1480C>T (p.P494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144399707G>A" "" "likely benign" "" "0000509325" "0" "30" "2" "145157274" "145157274" "subst" "0.00195174" "02326" "ZEB2_000075" "g.145157274G>A" "" "" "" "ZEB2(NM_014795.3):c.1480C>T (p.P494S, p.(Pro494Ser)), ZEB2(NM_014795.4):c.1480C>T (p.P494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144399707G>A" "" "likely benign" "" "0000509327" "0" "90" "2" "145158764" "145158764" "subst" "0" "02325" "ZEB2_000076" "g.145158764A>G" "" "" "" "ZEB2(NM_014795.4):c.916+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144401197A>G" "" "pathogenic" "" "0000509328" "0" "50" "2" "145161480" "145161480" "subst" "0.000507903" "01943" "ZEB2_000077" "g.145161480C>G" "" "" "" "ZEB2(NM_014795.3):c.807+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144403913C>G" "" "VUS" "" "0000509329" "0" "70" "2" "145161504" "145161504" "dup" "0" "01804" "ZEB2_000078" "g.145161504dup" "" "" "" "ZEB2(NM_014795.3):c.786dupA (p.(His263ThrfsTer17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144403937dup" "" "likely pathogenic" "" "0000509330" "0" "30" "2" "145161531" "145161531" "subst" "0.000304573" "01943" "ZEB2_000079" "g.145161531G>A" "" "" "" "ZEB2(NM_014795.3):c.759C>T (p.R253=), ZEB2(NM_014795.4):c.759C>T (p.R253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144403964G>A" "" "likely benign" "" "0000509331" "0" "30" "2" "145161705" "145161705" "subst" "8.1365E-6" "01804" "ZEB2_000080" "g.145161705C>T" "" "" "" "ZEB2(NM_014795.3):c.593-8G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144404138C>T" "" "likely benign" "" "0000509332" "0" "30" "2" "145162506" "145162506" "subst" "0.00374654" "01943" "ZEB2_000081" "g.145162506G>A" "" "" "" "ZEB2(NM_014795.3):c.489C>T (p.I163=), ZEB2(NM_014795.4):c.489C>T (p.I163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144404939G>A" "" "likely benign" "" "0000509333" "0" "10" "2" "145162506" "145162506" "subst" "0.00374654" "02325" "ZEB2_000081" "g.145162506G>A" "" "" "" "ZEB2(NM_014795.3):c.489C>T (p.I163=), ZEB2(NM_014795.4):c.489C>T (p.I163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144404939G>A" "" "benign" "" "0000509334" "0" "30" "2" "145162529" "145162529" "subst" "4.06388E-5" "01943" "ZEB2_000082" "g.145162529G>A" "" "" "" "ZEB2(NM_014795.3):c.466C>T (p.R156C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144404962G>A" "" "likely benign" "" "0000509335" "0" "30" "2" "145182370" "145182370" "subst" "2.03113E-5" "02326" "ZEB2_000084" "g.145182370A>G" "" "" "" "ZEB2(NM_014795.4):c.396T>C (p.N132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144424803A>G" "" "likely benign" "" "0000509337" "0" "90" "2" "145187443" "145187453" "del" "0" "02327" "ZEB2_000085" "g.145187443_145187453del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144429876_144429886del" "" "pathogenic" "" "0000509338" "0" "30" "2" "145187447" "145187447" "subst" "2.03369E-5" "02325" "ZEB2_000086" "g.145187447C>T" "" "" "" "ZEB2(NM_014795.4):c.220G>A (p.V74M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144429880C>T" "" "likely benign" "" "0000509339" "0" "50" "2" "145187584" "145187584" "subst" "8.16793E-6" "02327" "ZEB2_000087" "g.145187584T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144430017T>C" "" "VUS" "" "0000509340" "0" "30" "2" "145188063" "145188064" "del" "0" "02326" "ZEB2_000088" "g.145188063_145188064del" "" "" "" "ZEB2(NM_014795.4):c.74-459_74-458delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144430496_144430497del" "" "likely benign" "" "0000509341" "0" "30" "2" "145274909" "145274909" "subst" "0.000270452" "01943" "ZEB2_000089" "g.145274909C>G" "" "" "" "ZEB2(NM_014795.3):c.9G>C (p.Q3H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144517342C>G" "" "likely benign" "" "0000606111" "0" "90" "2" "145156671" "145156671" "subst" "0" "01804" "ZEB2_000050" "g.145156671G>A" "" "" "" "ZEB2(NM_014795.3):c.2083C>T (p.(Arg695Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144399104G>A" "" "pathogenic" "" "0000606112" "0" "90" "2" "145157180" "145157180" "del" "0" "02325" "ZEB2_000090" "g.145157180del" "" "" "" "ZEB2(NM_014795.4):c.1575delT (p.I526Lfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144399613del" "" "pathogenic" "" "0000606113" "0" "30" "2" "145161531" "145161531" "subst" "0.000304573" "02326" "ZEB2_000079" "g.145161531G>A" "" "" "" "ZEB2(NM_014795.3):c.759C>T (p.R253=), ZEB2(NM_014795.4):c.759C>T (p.R253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144403964G>A" "" "likely benign" "" "0000650107" "1" "90" "2" "145157168" "145157168" "del" "0" "03575" "ZEB2_000091" "g.145157168del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398124276}" "Germline" "" "rs398124276" "0" "" "" "g.144399601del" "" "pathogenic" "" "0000676020" "0" "50" "2" "145147106" "145147106" "subst" "5.68477E-5" "01943" "ZEB2_000093" "g.145147106C>A" "" "" "" "ZEB2(NM_014795.3):c.3557G>T (p.G1186V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676021" "0" "30" "2" "145156207" "145156207" "subst" "0" "01943" "ZEB2_000094" "g.145156207A>C" "" "" "" "ZEB2(NM_014795.3):c.2547T>G (p.V849=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676022" "0" "90" "2" "145157151" "145157151" "subst" "0" "02327" "ZEB2_000095" "g.145157151C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000699790" "0" "50" "2" "0" "0" "" "0" "00006" "SNRNP200_000007" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000703983" "0" "70" "2" "145157754" "145157754" "subst" "0" "01807" "ZEB2_000096" "g.145157754A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000717856" "0" "50" "2" "145155864" "145155864" "subst" "1.21926E-5" "02329" "ZEB2_000092" "g.145155864T>G" "" "" "" "ZEB2(NM_014795.4):c.2886+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717857" "0" "90" "2" "145156640" "145156640" "del" "0" "02329" "ZEB2_000030" "g.145156640del" "" "" "" "ZEB2(NM_014795.4):c.2117delC (p.P706Hfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787082" "0" "90" "2" "145156942" "145156964" "dup" "0" "00006" "ZEB2_000098" "g.145156942_145156964dup" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.144399375_144399397dup" "" "pathogenic" "" "0000787519" "0" "50" "2" "145156655" "145156655" "subst" "0" "00000" "ZEB2_000097" "g.145156655T>C" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.144399088T>C" "" "VUS" "" "0000799671" "0" "70" "2" "145147541" "145147541" "subst" "0" "02327" "ZEB2_000099" "g.145147541T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799672" "0" "70" "2" "145155867" "145155867" "subst" "0" "02327" "ZEB2_000100" "g.145155867C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000799673" "0" "50" "2" "145156499" "145156499" "subst" "5.28206E-5" "01943" "ZEB2_000101" "g.145156499G>A" "" "" "" "ZEB2(NM_014795.3):c.2255C>T (p.T752M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799674" "0" "30" "2" "145157478" "145157478" "subst" "0.000365791" "01943" "ZEB2_000003" "g.145157478A>T" "" "" "" "ZEB2(NM_014795.3):c.1276T>A (p.L426I), ZEB2(NM_014795.4):c.1276T>A (p.L426I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799675" "0" "90" "2" "145157795" "145157795" "del" "0" "02325" "ZEB2_000102" "g.145157795del" "" "" "" "ZEB2(NM_014795.4):c.961delC (p.H321Ifs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848955" "0" "50" "2" "145147262" "145147262" "subst" "0" "02325" "ZEB2_000103" "g.145147262C>T" "" "" "" "ZEB2(NM_014795.4):c.3401G>A (p.G1134D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848956" "0" "30" "2" "145156613" "145156613" "subst" "0.00286267" "01943" "ZEB2_000029" "g.145156613G>A" "" "" "" "ZEB2(NM_014795.3):c.2141C>T (p.P714L, p.(Pro714Leu)), ZEB2(NM_014795.4):c.2141C>T (p.P714L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848957" "0" "50" "2" "145157432" "145157432" "subst" "4.06497E-6" "02325" "ZEB2_000106" "g.145157432A>C" "" "" "" "ZEB2(NM_014795.4):c.1322T>G (p.V441G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857699" "0" "50" "2" "145156548" "145156548" "subst" "0.000219427" "01943" "ZEB2_000104" "g.145156548T>C" "" "" "" "ZEB2(NM_014795.3):c.2206A>G (p.M736V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857700" "0" "50" "2" "145156549" "145156549" "subst" "0.000211295" "01943" "ZEB2_000105" "g.145156549A>G" "" "" "" "ZEB2(NM_014795.3):c.2205T>C (p.P735=), ZEB2(NM_014795.4):c.2205T>C (p.P735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857701" "0" "30" "2" "145182371" "145182371" "subst" "0" "01943" "ZEB2_000107" "g.145182371T>G" "" "" "" "ZEB2(NM_014795.3):c.395A>C (p.N132T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883743" "0" "30" "2" "145156297" "145156297" "subst" "0.000117858" "02326" "ZEB2_000108" "g.145156297T>C" "" "" "" "ZEB2(NM_014795.4):c.2457A>G (p.S819=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883744" "0" "50" "2" "145157705" "145157705" "subst" "4.06349E-6" "02325" "ZEB2_000109" "g.145157705G>A" "" "" "" "ZEB2(NM_014795.4):c.1049C>T (p.T350M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883745" "0" "90" "2" "145187564" "145187564" "del" "0" "02327" "ZEB2_000110" "g.145187564del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911182" "0" "30" "2" "145156879" "145156879" "subst" "4.07014E-6" "02326" "ZEB2_000111" "g.145156879G>A" "" "" "" "ZEB2(NM_014795.4):c.1875C>T (p.A625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911183" "0" "90" "2" "145157333" "145157333" "dup" "0" "02329" "ZEB2_000112" "g.145157333dup" "" "" "" "ZEB2(NM_014795.4):c.1426dupA (p.M476Nfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911184" "0" "30" "2" "145157533" "145157533" "subst" "0.000134118" "02326" "ZEB2_000113" "g.145157533G>A" "" "" "" "ZEB2(NM_014795.4):c.1221C>T (p.H407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911185" "0" "70" "2" "145158832" "145158832" "subst" "0" "02325" "ZEB2_000114" "g.145158832A>G" "" "" "" "ZEB2(NM_014795.4):c.850T>C (p.C284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911186" "0" "50" "2" "145187494" "145187494" "subst" "4.06924E-6" "02325" "ZEB2_000115" "g.145187494T>C" "" "" "" "ZEB2(NM_014795.3):c.173A>G (p.(Gln58Arg)), ZEB2(NM_014795.4):c.173A>G (p.Q58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928266" "0" "30" "2" "145274917" "145274917" "subst" "0" "02327" "ZEB2_000116" "g.145274917T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947353" "0" "70" "2" "145147456" "145147457" "ins" "0" "02327" "ZEB2_000117" "g.145147456_145147457insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947354" "0" "30" "2" "145157448" "145157448" "subst" "0.000203257" "02325" "ZEB2_000118" "g.145157448T>C" "" "" "" "ZEB2(NM_014795.4):c.1306A>G (p.M436V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947355" "0" "50" "2" "145162528" "145162528" "subst" "8.12691E-6" "02325" "ZEB2_000119" "g.145162528C>T" "" "" "" "ZEB2(NM_014795.4):c.467G>A (p.R156H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952598" "1" "50" "2" "145156520" "145156520" "subst" "0" "00006" "ZEB2_000120" "g.145156520G>T" "" "{PMID:Sarker 2023:38057384}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.144398953G>T" "" "VUS" "" "0000974300" "0" "50" "2" "145147090" "145147090" "subst" "0" "01804" "ZEB2_000121" "g.145147090G>T" "" "" "" "ZEB2(NM_014795.4):c.3573C>A (p.(Asp1191Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974301" "0" "50" "2" "145156050" "145156050" "subst" "0" "01804" "ZEB2_000122" "g.145156050T>C" "" "" "" "ZEB2(NM_014795.4):c.2704A>G (p.(Ser902Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974302" "0" "30" "2" "145157824" "145157824" "subst" "0.00388894" "01804" "ZEB2_000034" "g.145157824G>A" "" "" "" "ZEB2(NM_014795.4):c.930C>T (p.(Tyr310=), p.Y310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974303" "0" "90" "2" "145162402" "145162403" "dup" "0" "02325" "ZEB2_000123" "g.145162402_145162403dup" "" "" "" "ZEB2(NM_014795.4):c.592+2_592+3insGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000974304" "0" "30" "2" "145275165" "145275165" "subst" "0" "01804" "ZEB2_000124" "g.145275165T>G" "" "" "" "ZEB2(NM_014795.4):c.-69-179A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984928" "0" "70" "2" "145157430" "145157430" "del" "0" "01164" "ZEB2_000125" "g.145157430del" "" "" "" "" "ACMG: PVS1, PS2_MOD, PM2_SUP" "De novo" "-" "" "0" "" "" "g.144399863del" "" "pathogenic (dominant)" "ACMG" "0000991637" "0" "30" "2" "145147038" "145147038" "subst" "0" "01804" "ZEB2_000126" "g.145147038T>C" "" "" "" "ZEB2(NM_014795.3):c.3625A>G (p.(Asn1209Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991638" "0" "70" "2" "145147051" "145147051" "del" "0" "02329" "ZEB2_000127" "g.145147051del" "" "" "" "ZEB2(NM_014795.4):c.3613delC (p.H1205Tfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991639" "0" "50" "2" "145147335" "145147335" "subst" "0" "01804" "ZEB2_000128" "g.145147335G>A" "" "" "" "ZEB2(NM_014795.3):c.3328C>T (p.(Arg1110Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991640" "0" "30" "2" "145156245" "145156245" "subst" "0" "01804" "ZEB2_000129" "g.145156245T>C" "" "" "" "ZEB2(NM_014795.3):c.2509A>G (p.(Thr837Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991641" "0" "50" "2" "145156271" "145156271" "subst" "0" "01804" "ZEB2_000130" "g.145156271T>C" "" "" "" "ZEB2(NM_014795.3):c.2483A>G (p.(Lys828Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991642" "0" "50" "2" "145156478" "145156478" "subst" "0" "01804" "ZEB2_000131" "g.145156478C>T" "" "" "" "ZEB2(NM_014795.3):c.2276G>A (p.(Arg759Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991643" "0" "30" "2" "145156479" "145156479" "subst" "3.24976E-5" "01804" "ZEB2_000132" "g.145156479T>C" "" "" "" "ZEB2(NM_014795.3):c.2275A>G (p.(Arg759Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991644" "0" "30" "2" "145157032" "145157032" "subst" "0" "01804" "ZEB2_000133" "g.145157032G>T" "" "" "" "ZEB2(NM_014795.3):c.1722C>A (p.(Asn574Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991645" "0" "30" "2" "145157368" "145157368" "subst" "0" "01804" "ZEB2_000134" "g.145157368C>A" "" "" "" "ZEB2(NM_014795.3):c.1386G>T (p.(Lys462Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991646" "0" "30" "2" "145182374" "145182374" "subst" "0" "01804" "ZEB2_000135" "g.145182374T>C" "" "" "" "ZEB2(NM_014795.3):c.392A>G (p.(Asn131Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991647" "0" "50" "2" "145187494" "145187494" "subst" "4.06924E-6" "01804" "ZEB2_000115" "g.145187494T>C" "" "" "" "ZEB2(NM_014795.3):c.173A>G (p.(Gln58Arg)), ZEB2(NM_014795.4):c.173A>G (p.Q58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991648" "0" "30" "2" "145274863" "145274863" "subst" "4.12776E-6" "01804" "ZEB2_000136" "g.145274863T>A" "" "" "" "ZEB2(NM_014795.3):c.55A>T (p.(Asn19Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007527" "0" "70" "2" "145274890" "145274890" "subst" "8.22551E-6" "00006" "ZEB2_000137" "g.145274890G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1451219938" "0" "" "" "g.144517323G>A" "" "VUS" "" "0001024232" "0" "50" "2" "145158777" "145158777" "subst" "0" "02327" "ZEB2_000138" "g.145158777C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032378" "0" "30" "2" "145154164" "145154164" "subst" "4.0985E-6" "01804" "ZEB2_000139" "g.145154164G>A" "" "" "" "ZEB2(NM_014795.4):c.2887-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032379" "0" "30" "2" "145161492" "145161492" "subst" "0.000552432" "01804" "ZEB2_000035" "g.145161492C>G" "" "" "" "ZEB2(NM_014795.4):c.798G>C (p.(Gly266=), p.G266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032380" "0" "30" "2" "145255575" "145255576" "ins" "0" "01804" "ZEB2_000140" "g.145255575_145255576insGT" "" "" "" "ZEB2(NM_014795.4):c.73+19270_73+19271insCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032381" "0" "30" "2" "145255587" "145255588" "ins" "0" "01804" "ZEB2_000141" "g.145255587_145255588insATA" "" "" "" "ZEB2(NM_014795.4):c.73+19259_73+19260insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032382" "0" "30" "2" "145275183" "145275183" "subst" "0" "01804" "ZEB2_000142" "g.145275183T>A" "" "" "" "ZEB2(NM_014795.4):c.-69-197A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032383" "0" "50" "2" "145275184" "145275184" "subst" "0" "01804" "ZEB2_000143" "g.145275184G>C" "" "" "" "ZEB2(NM_014795.4):c.-69-198C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045711" "0" "50" "2" "145156549" "145156549" "subst" "0.000211295" "02325" "ZEB2_000105" "g.145156549A>G" "" "" "" "ZEB2(NM_014795.3):c.2205T>C (p.P735=), ZEB2(NM_014795.4):c.2205T>C (p.P735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050811" "0" "50" "2" "145156257" "145156257" "subst" "1.21913E-5" "01804" "ZEB2_000144" "g.145156257T>C" "" "" "" "ZEB2(NM_014795.4):c.2497A>G (p.(Thr833Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050812" "0" "50" "2" "145157075" "145157075" "subst" "4.06742E-6" "01804" "ZEB2_000145" "g.145157075C>T" "" "" "" "ZEB2(NM_014795.4):c.1679G>A (p.(Arg560His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050813" "0" "50" "2" "145157213" "145157213" "subst" "4.06415E-6" "01804" "ZEB2_000146" "g.145157213G>A" "" "" "" "ZEB2(NM_014795.4):c.1541C>T (p.(Pro514Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050814" "0" "30" "2" "145255410" "145255411" "dup" "0" "01804" "ZEB2_000147" "g.145255410_145255411dup" "" "" "" "ZEB2(NM_014795.4):c.73+19446_73+19447dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ZEB2 ## Count = 151 "{{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}}" "0000000871" "00000043" "50" "593" "-205" "593" "-205" "c.593-205T>C" "r.(=)" "p.(=)" "" "0000064642" "00000043" "10" "3067" "6" "3067" "6" "c.3067+6A>T" "r.(=)" "p.(=)" "" "0000064643" "00000043" "10" "917" "-21" "917" "-21" "c.917-21T>C" "r.(=)" "p.(=)" "" "0000064644" "00000043" "50" "1276" "0" "1276" "0" "c.1276T>A" "r.(?)" "p.(Leu426Ile)" "" "0000064645" "00000043" "10" "1848" "0" "1848" "0" "c.1848T>G" "r.(=)" "p.(=)" "" "0000130198" "00000043" "70" "2769" "0" "2769" "0" "c.2769C>A" "r.(?)" "p.(Tyr923*)" "" "0000165272" "00000043" "90" "712" "0" "712" "0" "c.712G>T" "r.(?)" "p.(Glu238*)" "" "0000223792" "00000043" "30" "13153" "0" "13153" "0" "c.*9508G>A" "r.(?)" "p.(=)" "10_" "0000244182" "00000043" "90" "271" "0" "277" "0" "c.271_277del" "r.(?)" "p.(Gly91Trpfs*15)" "3" "0000251232" "00000043" "10" "4159" "0" "4159" "0" "c.*514del" "r.(?)" "p.(=)" "" "0000251233" "00000043" "10" "3680" "0" "3680" "0" "c.*35del" "r.(?)" "p.(=)" "" "0000251234" "00000043" "10" "3673" "0" "3673" "0" "c.*28T>A" "r.(=)" "p.(=)" "" "0000251235" "00000043" "10" "404" "-193" "404" "-193" "c.404-193T>G" "r.(=)" "p.(=)" "" "0000251909" "00000043" "30" "1276" "0" "1276" "0" "c.1276T>A" "r.(?)" "p.(Leu426Ile)" "" "0000313131" "00000043" "50" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Asn67Ser)" "" "0000313132" "00000043" "30" "2142" "0" "2142" "0" "c.2142G>A" "r.(?)" "p.(Pro714=)" "" "0000313133" "00000043" "70" "3067" "0" "3067" "0" "c.3067G>C" "r.(?)" "p.(Gly1023Arg)" "" "0000313134" "00000043" "30" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Gly266=)" "" "0000315528" "00000043" "30" "2141" "0" "2141" "0" "c.2141C>T" "r.(?)" "p.(Pro714Leu)" "" "0000315529" "00000043" "30" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Pro735Ser)" "" "0000315530" "00000043" "30" "2230" "0" "2230" "0" "c.2230A>G" "r.(?)" "p.(Ile744Val)" "" "0000315531" "00000043" "30" "295" "0" "295" "0" "c.295A>G" "r.(?)" "p.(Asn99Asp)" "" "0000315532" "00000043" "30" "304" "0" "304" "0" "c.304A>T" "r.(?)" "p.(Ile102Phe)" "" "0000315533" "00000043" "10" "3067" "35" "3067" "35" "c.3067+35C>G" "r.(=)" "p.(=)" "" "0000315534" "00000043" "10" "3067" "6" "3067" "6" "c.3067+6A>T" "r.(=)" "p.(=)" "" "0000315535" "00000043" "70" "3086" "0" "3086" "0" "c.3086G>T" "r.(?)" "p.(Cys1029Phe)" "" "0000315536" "00000043" "30" "930" "0" "930" "0" "c.930C>T" "r.(?)" "p.(Tyr310=)" "" "0000320123" "00000043" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Ter)" "" "0000320124" "00000043" "50" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Ser484Leu)" "" "0000320125" "00000043" "50" "2793" "0" "2793" "0" "c.2793C>G" "r.(?)" "p.(Phe931Leu)" "" "0000320126" "00000043" "30" "2973" "0" "2973" "0" "c.2973C>T" "r.(?)" "p.(Ile991=)" "" "0000320127" "00000043" "30" "304" "0" "304" "0" "c.304A>T" "r.(?)" "p.(Ile102Phe)" "" "0000320128" "00000043" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Thr212=)" "" "0000327261" "00000043" "50" "3492" "0" "3492" "0" "c.3492G>T" "r.(?)" "p.(Glu1164Asp)" "" "0000327262" "00000043" "50" "3469" "0" "3469" "0" "c.3469G>T" "r.(?)" "p.(Asp1157Tyr)" "" "0000327264" "00000043" "30" "3067" "6" "3067" "6" "c.3067+6A>T" "r.(=)" "p.(=)" "" "0000327265" "00000043" "50" "3050" "0" "3050" "0" "c.3050A>G" "r.(?)" "p.(His1017Arg)" "" "0000327266" "00000043" "50" "2996" "0" "3003" "0" "c.2996_3003del" "r.(?)" "p.(Tyr999Ter)" "" "0000327267" "00000043" "50" "2218" "0" "2218" "0" "c.2218A>G" "r.(?)" "p.(Thr740Ala)" "" "0000327268" "00000043" "50" "2204" "0" "2204" "0" "c.2204C>G" "r.(?)" "p.(Pro735Arg)" "" "0000327269" "00000043" "30" "2141" "0" "2141" "0" "c.2141C>T" "r.(?)" "p.(Pro714Leu)" "" "0000327270" "00000043" "50" "1749" "0" "1749" "0" "c.1749C>A" "r.(?)" "p.(Cys583Ter)" "" "0000339459" "00000043" "10" "1587" "0" "1587" "0" "c.1587G>A" "r.(?)" "p.(Thr529=)" "" "0000342580" "00000043" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Ter)" "" "0000343277" "00000043" "90" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Ter)" "" "0000344229" "00000043" "70" "3170" "0" "3170" "0" "c.3170G>A" "r.(?)" "p.(Cys1057Tyr)" "" "0000344269" "00000043" "90" "420" "0" "420" "0" "c.420C>A" "r.(?)" "p.(Cys140Ter)" "" "0000344723" "00000043" "90" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Gln271Ter)" "" "0000345041" "00000043" "50" "3130" "0" "3130" "0" "c.3130G>A" "r.(?)" "p.(Glu1044Lys)" "" "0000345567" "00000043" "90" "2476" "0" "2476" "0" "c.2476G>T" "r.(?)" "p.(Glu826Ter)" "" "0000346443" "00000043" "90" "886" "0" "886" "0" "c.886C>T" "r.(?)" "p.(His296Tyr)" "" "0000347735" "00000043" "50" "3595" "0" "3595" "0" "c.3595A>T" "r.(?)" "p.(Met1199Leu)" "" "0000348644" "00000043" "70" "3200" "0" "3200" "0" "c.3200C>T" "r.(?)" "p.(Ser1067Leu)" "" "0000348941" "00000043" "90" "980" "0" "980" "0" "c.980C>A" "r.(?)" "p.(Ser327Ter)" "" "0000350165" "00000043" "90" "1956" "0" "1956" "0" "c.1956C>G" "r.(?)" "p.(Tyr652Ter)" "" "0000350198" "00000043" "90" "2403" "0" "2403" "0" "c.2403C>G" "r.(?)" "p.(Tyr801Ter)" "" "0000350220" "00000043" "90" "2865" "0" "2865" "0" "c.2865C>A" "r.(?)" "p.(Tyr955Ter)" "" "0000509313" "00000043" "30" "4159" "0" "4159" "0" "c.*514dup" "r.(?)" "p.(=)" "" "0000509314" "00000043" "30" "3471" "0" "3471" "0" "c.3471C>T" "r.(?)" "p.(Asp1157=)" "" "0000509315" "00000043" "50" "3432" "0" "3432" "0" "c.3432C>T" "r.(?)" "p.(Gly1144=)" "" "0000509316" "00000043" "90" "3215" "0" "3215" "0" "c.3215A>G" "r.(?)" "p.(Gln1072Arg)" "" "0000509317" "00000043" "90" "3197" "0" "3197" "0" "c.3197dup" "r.(?)" "p.(His1066GlnfsTer58)" "" "0000509318" "00000043" "10" "3067" "36" "3067" "36" "c.3067+36C>G" "r.(=)" "p.(=)" "" "0000509319" "00000043" "70" "3010" "0" "3010" "0" "c.3010T>C" "r.(?)" "p.(Cys1004Arg)" "" "0000509321" "00000043" "30" "1542" "0" "1542" "0" "c.1542G>T" "r.(?)" "p.(Pro514=)" "" "0000509322" "00000043" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Pro498Ser)" "" "0000509323" "00000043" "30" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Pro494Ser)" "" "0000509324" "00000043" "30" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Pro494Ser)" "" "0000509325" "00000043" "30" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Pro494Ser)" "" "0000509327" "00000043" "90" "916" "2" "916" "2" "c.916+2T>C" "r.spl?" "p.?" "" "0000509328" "00000043" "50" "807" "3" "807" "3" "c.807+3G>C" "r.spl?" "p.?" "" "0000509329" "00000043" "70" "786" "0" "786" "0" "c.786dup" "r.(?)" "p.(His263ThrfsTer17)" "" "0000509330" "00000043" "30" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Arg253=)" "" "0000509331" "00000043" "30" "593" "-8" "593" "-8" "c.593-8G>A" "r.(=)" "p.(=)" "" "0000509332" "00000043" "30" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Ile163=)" "" "0000509333" "00000043" "10" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Ile163=)" "" "0000509334" "00000043" "30" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Cys)" "" "0000509335" "00000043" "30" "396" "0" "396" "0" "c.396T>C" "r.(?)" "p.(Asn132=)" "" "0000509337" "00000043" "90" "217" "0" "227" "0" "c.217_227del" "r.(?)" "p.(His73SerfsTer11)" "" "0000509338" "00000043" "30" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Val74Met)" "" "0000509339" "00000043" "50" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(Tyr28Cys)" "" "0000509340" "00000043" "30" "74" "-459" "74" "-458" "c.74-459_74-458del" "r.(=)" "p.(=)" "" "0000509341" "00000043" "30" "9" "0" "9" "0" "c.9G>C" "r.(?)" "p.(Gln3His)" "" "0000606111" "00000043" "90" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Ter)" "" "0000606112" "00000043" "90" "1575" "0" "1575" "0" "c.1575del" "r.(?)" "p.(Ile526LeufsTer18)" "" "0000606113" "00000043" "30" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Arg253=)" "" "0000650107" "00000043" "90" "1586" "0" "1586" "0" "c.1586del" "r.(?)" "p.(Thr529Serfs*15)" "" "0000676020" "00000043" "50" "3557" "0" "3557" "0" "c.3557G>T" "r.(?)" "p.(Gly1186Val)" "" "0000676021" "00000043" "30" "2547" "0" "2547" "0" "c.2547T>G" "r.(?)" "p.(Val849=)" "" "0000676022" "00000043" "90" "1603" "0" "1603" "0" "c.1603G>T" "r.(?)" "p.(Glu535Ter)" "" "0000699790" "00000043" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Thr350Met)" "" "0000703983" "00000043" "70" "1000" "0" "1000" "0" "c.1000T>G" "r.(?)" "p.(Cys334Gly)" "" "0000717856" "00000043" "50" "2886" "4" "2886" "4" "c.2886+4A>C" "r.spl?" "p.?" "" "0000717857" "00000043" "90" "2117" "0" "2117" "0" "c.2117del" "r.(?)" "p.(Pro706HisfsTer10)" "" "0000787082" "00000043" "90" "1791" "0" "1813" "0" "c.1791_1813dup" "r.(?)" "p.(Lys605IlefsTer10)" "8" "0000787519" "00000043" "50" "2099" "0" "2099" "0" "c.2099A>G" "r.(?)" "p.(Tyr700Cys)" "8" "0000799671" "00000043" "70" "3122" "0" "3122" "0" "c.3122A>G" "r.(?)" "p.(His1041Arg)" "" "0000799672" "00000043" "70" "2886" "1" "2886" "1" "c.2886+1G>T" "r.spl?" "p.?" "" "0000799673" "00000043" "50" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Thr752Met)" "" "0000799674" "00000043" "30" "1276" "0" "1276" "0" "c.1276T>A" "r.(?)" "p.(Leu426Ile)" "" "0000799675" "00000043" "90" "961" "0" "961" "0" "c.961del" "r.(?)" "p.(His321Ilefs*17)" "" "0000848955" "00000043" "50" "3401" "0" "3401" "0" "c.3401G>A" "r.(?)" "p.(Gly1134Asp)" "" "0000848956" "00000043" "30" "2141" "0" "2141" "0" "c.2141C>T" "r.(?)" "p.(Pro714Leu)" "" "0000848957" "00000043" "50" "1322" "0" "1322" "0" "c.1322T>G" "r.(?)" "p.(Val441Gly)" "" "0000857699" "00000043" "50" "2206" "0" "2206" "0" "c.2206A>G" "r.(?)" "p.(Met736Val)" "" "0000857700" "00000043" "50" "2205" "0" "2205" "0" "c.2205T>C" "r.(?)" "p.(Pro735=)" "" "0000857701" "00000043" "30" "395" "0" "395" "0" "c.395A>C" "r.(?)" "p.(Asn132Thr)" "" "0000883743" "00000043" "30" "2457" "0" "2457" "0" "c.2457A>G" "r.(?)" "p.(Ser819=)" "" "0000883744" "00000043" "50" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Thr350Met)" "" "0000883745" "00000043" "90" "104" "0" "104" "0" "c.104del" "r.(?)" "p.(Gly35Valfs*40)" "" "0000911182" "00000043" "30" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(Ala625=)" "" "0000911183" "00000043" "90" "1426" "0" "1426" "0" "c.1426dup" "r.(?)" "p.(Met476Asnfs*6)" "" "0000911184" "00000043" "30" "1221" "0" "1221" "0" "c.1221C>T" "r.(?)" "p.(His407=)" "" "0000911185" "00000043" "70" "850" "0" "850" "0" "c.850T>C" "r.(?)" "p.(Cys284Arg)" "" "0000911186" "00000043" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Gln58Arg)" "" "0000928266" "00000043" "30" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.?" "" "0000947353" "00000043" "70" "3206" "0" "3207" "0" "c.3206_3207insA" "r.(?)" "p.(Tyr1070Valfs*54)" "" "0000947354" "00000043" "30" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Met436Val)" "" "0000947355" "00000043" "50" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Arg156His)" "" "0000952598" "00000043" "50" "2234" "0" "2234" "0" "c.2234C>A" "r.(?)" "p.(Ala745Glu)" "8" "0000974300" "00000043" "50" "3573" "0" "3573" "0" "c.3573C>A" "r.(?)" "p.(Asp1191Glu)" "" "0000974301" "00000043" "50" "2704" "0" "2704" "0" "c.2704A>G" "r.(?)" "p.(Ser902Gly)" "" "0000974302" "00000043" "30" "930" "0" "930" "0" "c.930C>T" "r.(?)" "p.(Tyr310=)" "" "0000974303" "00000043" "90" "592" "0" "592" "1" "c.592_592+1dup" "r.spl?" "p.?" "" "0000974304" "00000043" "30" "-69" "-179" "-69" "-179" "c.-69-179A>C" "r.(=)" "p.(=)" "" "0000984928" "00000043" "70" "1326" "0" "1326" "0" "c.1326del" "r.(?)" "p.(Met443Trpfs*11)" "8" "0000991637" "00000043" "30" "3625" "0" "3625" "0" "c.3625A>G" "r.(?)" "p.(Asn1209Asp)" "" "0000991638" "00000043" "70" "3613" "0" "3613" "0" "c.3613del" "r.(?)" "p.(His1205Thrfs*36)" "" "0000991639" "00000043" "50" "3328" "0" "3328" "0" "c.3328C>T" "r.(?)" "p.(Arg1110Trp)" "" "0000991640" "00000043" "30" "2509" "0" "2509" "0" "c.2509A>G" "r.(?)" "p.(Thr837Ala)" "" "0000991641" "00000043" "50" "2483" "0" "2483" "0" "c.2483A>G" "r.(?)" "p.(Lys828Arg)" "" "0000991642" "00000043" "50" "2276" "0" "2276" "0" "c.2276G>A" "r.(?)" "p.(Arg759Lys)" "" "0000991643" "00000043" "30" "2275" "0" "2275" "0" "c.2275A>G" "r.(?)" "p.(Arg759Gly)" "" "0000991644" "00000043" "30" "1722" "0" "1722" "0" "c.1722C>A" "r.(?)" "p.(Asn574Lys)" "" "0000991645" "00000043" "30" "1386" "0" "1386" "0" "c.1386G>T" "r.(?)" "p.(Lys462Asn)" "" "0000991646" "00000043" "30" "392" "0" "392" "0" "c.392A>G" "r.(?)" "p.(Asn131Ser)" "" "0000991647" "00000043" "50" "173" "0" "173" "0" "c.173A>G" "r.(?)" "p.(Gln58Arg)" "" "0000991648" "00000043" "30" "55" "0" "55" "0" "c.55A>T" "r.(?)" "p.(Asn19Tyr)" "" "0001007527" "00000043" "70" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Pro10Ser)" "" "0001024232" "00000043" "50" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Arg302Gln)" "" "0001032378" "00000043" "30" "2887" "-5" "2887" "-5" "c.2887-5C>T" "r.spl?" "p.?" "" "0001032379" "00000043" "30" "798" "0" "798" "0" "c.798G>C" "r.(?)" "p.(Gly266=)" "" "0001032380" "00000043" "30" "73" "19270" "73" "19271" "c.73+19270_73+19271insCA" "r.(=)" "p.(=)" "" "0001032381" "00000043" "30" "73" "19259" "73" "19260" "c.73+19259_73+19260insTTA" "r.(=)" "p.(=)" "" "0001032382" "00000043" "30" "-69" "-197" "-69" "-197" "c.-69-197A>T" "r.(=)" "p.(=)" "" "0001032383" "00000043" "50" "-69" "-198" "-69" "-198" "c.-69-198C>G" "r.(=)" "p.(=)" "" "0001045711" "00000043" "50" "2205" "0" "2205" "0" "c.2205T>C" "r.(?)" "p.(Pro735=)" "" "0001050811" "00000043" "50" "2497" "0" "2497" "0" "c.2497A>G" "r.(?)" "p.(Thr833Ala)" "" "0001050812" "00000043" "50" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Arg560His)" "" "0001050813" "00000043" "50" "1541" "0" "1541" "0" "c.1541C>T" "r.(?)" "p.(Pro514Leu)" "" "0001050814" "00000043" "30" "73" "19446" "73" "19447" "c.73+19446_73+19447dup" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000871" "0000037517" "0000064642" "0000037518" "0000064643" "0000037519" "0000064644" "0000037520" "0000064645" "0000081112" "0000130198" "0000102530" "0000165272" "0000134104" "0000223792" "0000151021" "0000244182" "0000293418" "0000650107" "0000317266" "0000699790" "0000321179" "0000703983" "0000375646" "0000787519" "0000375731" "0000787082" "0000445544" "0000952598" "0000451150" "0000984928" "0000455420" "0001007527"