### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZEB1) # 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}}" "ZEB1" "zinc finger E-box binding homeobox 1" "10" "p11.22" "unknown" "NG_017048.1" "UD_132085250084" "" "https://www.LOVD.nl/ZEB1" "" "1" "11642" "6935" "189909" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ZEB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-07-19 11:35:44" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00023119" "ZEB1" "transcript variant 2" "002" "NM_030751.5" "" "NP_110378.3" "" "" "" "-63" "5925" "3375" "31608101" "31818742" "" "0000-00-00 00:00:00" "" "" "00025917" "ZEB1" "transcript variant 9" "003" "NM_001174096.1" "" "NP_001167567.1" "" "" "RefSeq select" "-63" "5928" "3378" "31608101" "31818742" "00006" "2024-02-23 18:48:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02825" "PPCD3" "dystrophy, corneal, posterior polymorphous, type 3 (PPCD-3)" "" "609141" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03297" "FECD6" "dystrophy, corneal, Fuchs endothelial, type 6 (FECD-6)" "" "613270" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05413" "PPCD" "dystrophy, corneal, posterior polymorphous (PPCD)" "" "" "" "" "" "00006" "2018-03-24 15:20:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ZEB1" "02825" "ZEB1" "03297" "ZEB1" "05413" ## Individuals ## Do not remove or alter this header ## ## Count = 43 "{{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}}" "00046902" "" "" "" "4" "" "01369" "{PMID:Liskova 2016:26508574}, {DOI:Liskova 2016:10.1038/ejhg.2015.232}" "4-generation family, 3 affected (3F, M), unaffected heterozygous carrier parents/relatives" "M" "no" "Czech Republic" "" "0" "" "" "" "FamC17PatIII1" "00046903" "" "" "" "1" "" "01369" "{PMID:Liskova 2016:26508574}, {DOI:Liskova 2016:10.1038/ejhg.2015.232}" "" "F" "?" "Czech Republic" "" "0" "" "" "" "FamC27" "00046952" "" "" "" "1" "" "01369" "{PMID:Liskova 2016:26508574}, {DOI:Liskova 2016:10.1038/ejhg.2015.232}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatB8" "00248097" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248098" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248099" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248100" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248101" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248102" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248103" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248104" "" "" "" "1" "" "01369" "{PMID:Aldave 2007:17935237}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248105" "" "" "" "1" "" "01369" "{PMID:Bakhtiari 2013 :23559851}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248106" "" "" "" "1" "" "01369" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248107" "" "" "" "1" "" "01369" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248108" "" "" "" "1" "" "01369" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248109" "" "" "" "1" "" "01369" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248110" "" "" "" "1" "" "01369" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "(United States)" "" "0" "" "" "" "" "00248111" "" "" "" "1" "" "01369" "{PMID:Evans 2015:25441224}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00248112" "" "" "" "1" "" "01369" "{PMID:Evans 2015:25441224}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "Sri Lanka" "" "00248113" "" "" "" "1" "" "01369" "{PMID:Evans 2015:25441224}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00248114" "" "" "" "1" "" "01369" "{PMID:Evans 2015:25441224}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00248115" "" "" "" "1" "" "01369" "{PMID:Evans 2015:25441224}" "" "" "" "Czech Republic" "" "0" "" "" "white" "" "00248116" "" "" "" "1" "" "01369" "{PMID:Evans 2015:25441224}" "" "" "" "Czech Republic" "" "0" "" "" "white" "" "00248117" "" "" "" "1" "" "01369" "{PMID:Jang 2014:24780443}" "" "" "" "United States" "" "0" "" "" "white" "" "00248118" "" "" "" "1" "" "01369" "{PMID:Krafchak 2005:16252232}" "" "" "" "United States" "" "0" "" "" "white" "" "00248119" "" "" "" "1" "" "01369" "{PMID:Krafchak 2005:16252232}" "" "" "" "United States" "" "0" "" "" "white" "" "00248120" "" "" "" "1" "" "01369" "{PMID:Krafchak 2005:16252232}" "" "" "" "United States" "" "0" "" "" "white" "" "00248121" "" "" "" "1" "" "01369" "{PMID:Krafchak 2005:16252232}" "" "" "" "(United States)" "" "0" "" "" "white" "" "00248122" "" "" "" "1" "" "01369" "{PMID:Krafchak 2005:16252232}" "" "" "" "United States" "" "0" "" "" "white" "" "00248123" "" "" "" "1" "" "01369" "{PMID:Lechner 2013:23599324}" "" "" "" "(Canada)" "" "0" "" "" "" "" "00248124" "" "" "" "1" "" "01369" "{PMID:Lechner 2013:23599324}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00248125" "" "" "" "1" "" "01369" "{PMID:Liskova 2007:17437275}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00248126" "" "" "" "1" "" "01369" "{PMID:Liskova 2007:17437275}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00248127" "" "" "" "1" "" "01369" "{PMID:Liskova 2007:17437275}" "" "" "" "Czech Republic" "" "0" "" "" "white" "" "00248128" "" "" "" "1" "" "01369" "{PMID:Liskova 2007:17437275}" "" "" "" "Czech Republic" "" "0" "" "" "white" "" "00248129" "" "" "" "1" "" "01369" "{PMID:Liskova 2013:23807282}" "" "" "" "Czech Republic" "" "0" "" "" "white" "" "00248130" "" "" "" "1" "" "01369" "{PMID:Liskova 2013:23807282}" "" "" "" "Czech Republic" "" "0" "" "" "white" "" "00248131" "" "" "" "1" "" "01369" "{PMID:Nguyen 2010:19432861}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00248132" "" "" "" "1" "" "01369" "{PMID:Vincent 2009:19997581}" "" "" "" "New Zealand" "" "0" "" "" "white" "" "00290038" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00385503" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "16025893" "00444317" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat88" "00444318" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat89" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 43 "{{individualid}}" "{{diseaseid}}" "00046902" "02825" "00046903" "02825" "00046952" "02825" "00248097" "05413" "00248098" "05413" "00248099" "05413" "00248100" "05413" "00248101" "05413" "00248102" "05413" "00248103" "05413" "00248104" "05413" "00248105" "05413" "00248106" "05413" "00248107" "05413" "00248108" "05413" "00248109" "05413" "00248110" "05413" "00248111" "05413" "00248112" "05413" "00248113" "05413" "00248114" "05413" "00248115" "05413" "00248116" "05413" "00248117" "05413" "00248118" "05413" "00248119" "05413" "00248120" "05413" "00248121" "05413" "00248122" "05413" "00248123" "05413" "00248124" "05413" "00248125" "05413" "00248126" "05413" "00248127" "05413" "00248128" "05413" "00248129" "05413" "00248130" "05413" "00248131" "05413" "00248132" "05413" "00290038" "00198" "00385503" "04214" "00444317" "04214" "00444318" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02825, 03297, 04214, 05413 ## Count = 42 "{{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}}" "0000034317" "02825" "00046902" "01369" "Unknown" "" "diagnosed with posterior polymorphous corneal dystrophy 3" "" "" "" "" "" "" "" "" "" "" "" "0000034318" "02825" "00046903" "01369" "Unknown" "" "diagnosed with posterior polymorphous corneal dystropy 3" "" "" "" "" "" "" "" "" "" "" "" "0000036718" "02825" "00046952" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187100" "05413" "00248097" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187101" "05413" "00248098" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187102" "05413" "00248099" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187103" "05413" "00248100" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187104" "05413" "00248101" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187105" "05413" "00248102" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187106" "05413" "00248103" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187107" "05413" "00248104" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187108" "05413" "00248105" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187109" "05413" "00248106" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187110" "05413" "00248107" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187111" "05413" "00248108" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187112" "05413" "00248109" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187113" "05413" "00248110" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187114" "05413" "00248111" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187115" "05413" "00248112" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187116" "05413" "00248113" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187117" "05413" "00248114" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187118" "05413" "00248115" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187119" "05413" "00248116" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187120" "05413" "00248117" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187121" "05413" "00248118" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187122" "05413" "00248119" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187123" "05413" "00248120" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187124" "05413" "00248121" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187125" "05413" "00248122" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187126" "05413" "00248123" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187127" "05413" "00248124" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187128" "05413" "00248125" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187129" "05413" "00248126" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187130" "05413" "00248127" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187131" "05413" "00248128" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187132" "05413" "00248129" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187133" "05413" "00248130" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187134" "05413" "00248131" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000187135" "05413" "00248132" "01369" "Unknown" "" "" "" "" "" "" "" "" "" "" "PPCD-3" "posterior polymorphous corneal dystrophy" "" "0000279298" "04214" "00385503" "00000" "Familial, autosomal dominant" "" "" "2y" "" "" "" "" "" "" "" "bilateral anterior segment dysgenesis (ASD) including congenital glaucoma" "corneal endothelial dystrophy" "" "0000333570" "04214" "00444317" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "corneal dystrophy" "" "0000333571" "04214" "00444318" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "corneal dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 43 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000047011" "00046902" "1" "01369" "01369" "2015-07-28 12:10:11" "" "" "arrayCNV;PCRlr;SEQ;SEQ-NG-I" "DNA" "" "" "0000047012" "00046903" "1" "01369" "01369" "2015-07-28 12:27:45" "" "" "arrayCNV;PCRlr;SEQ" "DNA" "" "" "0000050051" "00046952" "1" "01369" "01369" "2015-09-22 11:53:31" "00006" "2015-09-22 17:17:41" "arrayCNV;PCRq" "DNA" "" "" "0000249202" "00248097" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249203" "00248098" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249204" "00248099" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249205" "00248100" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249206" "00248101" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249207" "00248102" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249208" "00248103" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249209" "00248104" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249210" "00248105" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249211" "00248106" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249212" "00248107" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249213" "00248108" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249214" "00248109" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249215" "00248110" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249216" "00248111" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249217" "00248112" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249218" "00248113" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249219" "00248114" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249220" "00248115" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249221" "00248116" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249222" "00248117" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249223" "00248118" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249224" "00248119" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249225" "00248120" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249226" "00248121" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249227" "00248122" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249228" "00248123" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249229" "00248124" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249230" "00248125" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249231" "00248126" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249232" "00248127" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249233" "00248128" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249234" "00248129" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249235" "00248130" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249236" "00248131" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000249237" "00248132" "1" "01369" "00006" "2015-07-29 18:31:53" "" "" "SEQ" "DNA" "" "" "0000291206" "00290038" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000386732" "00385503" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "32 genes panel tested" "0000445891" "00444317" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000445892" "00444318" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{geneid}}" "0000050051" "ZEB1" "0000249202" "ZEB1" "0000249203" "ZEB1" "0000249204" "ZEB1" "0000249205" "ZEB1" "0000249206" "ZEB1" "0000249207" "ZEB1" "0000249208" "ZEB1" "0000249209" "ZEB1" "0000249210" "ZEB1" "0000249211" "ZEB1" "0000249212" "ZEB1" "0000249213" "ZEB1" "0000249214" "ZEB1" "0000249215" "ZEB1" "0000249216" "ZEB1" "0000249217" "ZEB1" "0000249218" "ZEB1" "0000249219" "ZEB1" "0000249220" "ZEB1" "0000249221" "ZEB1" "0000249222" "ZEB1" "0000249223" "ZEB1" "0000249224" "ZEB1" "0000249225" "ZEB1" "0000249226" "ZEB1" "0000249227" "ZEB1" "0000249228" "ZEB1" "0000249229" "ZEB1" "0000249230" "ZEB1" "0000249231" "ZEB1" "0000249232" "ZEB1" "0000249233" "ZEB1" "0000249234" "ZEB1" "0000249235" "ZEB1" "0000249236" "ZEB1" "0000249237" "ZEB1" "0000386732" "ZEB1" ## 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 = 79 "{{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}}" "0000075679" "21" "90" "10" "29277299" "32553577" "del" "0" "01369" "ZEB1_000000" "g.29277299_32553577del" "" "{PMID:Liskova 2016:26508574}, {DOI:Liskova 2016:10.1038/ejhg.2015.232}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000075680" "0" "90" "10" "31784795" "31855747" "delins" "0" "01369" "ZEB1_000002" "g.31784795_31855747delinsACACACAC" "" "{PMID:Liskova 2016:26508574}, {DOI:Liskova 2016:10.1038/ejhg.2015.232}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline/De novo (untested)" "?" "" "0" "" "" "g.31495866_31566819delinsACACACAC" "" "pathogenic (dominant)" "" "0000079005" "0" "90" "10" "31350494" "32214122" "del" "0" "01369" "ZEB1_000000" "g.(31298325_31350494)_(32214122_32285574)del" "" "{PMID:Liskova 2016:26508574}, {DOI:Liskova 2016:10.1038/ejhg.2015.232}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000081435" "0" "50" "10" "31750008" "31750008" "subst" "8.14001E-6" "01413" "ZEB1_000003" "g.31750008A>G" "" "" "" "31750009A>G" "" "Unknown" "" "" "0" "" "" "g.31461079A>G" "" "VUS" "" "0000313130" "0" "10" "10" "31803516" "31803516" "subst" "0.945826" "02325" "ZEB1_000005" "g.31803516G>A" "" "" "" "ZEB1(NM_001128128.3):c.637-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31514588G>A" "" "benign" "" "0000321476" "0" "30" "10" "31803635" "31803635" "subst" "0.000200398" "01804" "ZEB1_000006" "g.31803635T>C" "" "" "" "ZEB1(NM_001128128.2):c.741T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31514707T>C" "" "likely benign" "" "0000321477" "0" "50" "10" "31809248" "31809248" "subst" "3.6647E-5" "01804" "ZEB1_000007" "g.31809248C>T" "" "" "" "ZEB1(NM_001128128.2):c.937C>T (p.(Arg313Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520320C>T" "" "VUS" "" "0000321478" "0" "30" "10" "31810237" "31810237" "subst" "0.000191473" "01804" "ZEB1_000008" "g.31810237C>G" "" "" "" "ZEB1(NM_001128128.2):c.1926C>G (p.(Asn642Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521309C>G" "" "likely benign" "" "0000321479" "0" "30" "10" "31816024" "31816026" "del" "0" "01804" "ZEB1_000009" "g.31816024_31816026del" "" "" "" "ZEB1(NM_001128128.2):c.3145_3147del (p.(Glu1049del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31527096_31527098del" "" "likely benign" "" "0000347695" "0" "90" "10" "31608166" "31608166" "subst" "0" "02327" "ZEB1_000010" "g.31608166G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31319237G>T" "" "pathogenic" "" "0000539848" "0" "50" "10" "31608178" "31608178" "del" "0" "01804" "ZEB1_000014" "g.31608178del" "" "" "" "ZEB1(NM_001128128.2):c.-2280del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31319249del" "" "VUS" "" "0000539849" "0" "50" "10" "31750077" "31750077" "subst" "4.06934E-6" "01943" "ZEB1_000016" "g.31750077C>T" "" "" "" "ZEB1(NM_001128128.2):c.119C>T (p.P40L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31461148C>T" "" "VUS" "" "0000539850" "0" "90" "10" "31791314" "31791314" "subst" "0" "02327" "ZEB1_000017" "g.31791314C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31502386C>T" "" "pathogenic" "" "0000539851" "0" "50" "10" "31799769" "31799769" "subst" "0" "01804" "ZEB1_000021" "g.31799769G>A" "" "" "" "ZEB1(NM_001128128.2):c.602G>A (p.(Arg201His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31510841G>A" "" "VUS" "" "0000539852" "0" "30" "10" "31803542" "31803542" "subst" "0.00122678" "01943" "ZEB1_000025" "g.31803542G>A" "" "" "" "ZEB1(NM_001323638.1):c.42G>A (p.T14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31514614G>A" "" "likely benign" "" "0000539853" "0" "50" "10" "31809701" "31809701" "subst" "8.56674E-5" "01943" "ZEB1_000034" "g.31809701G>C" "" "" "" "ZEB1(NM_001174096.2):c.1441G>C (p.(Glu481Gln)), ZEB1(NM_001323638.1):c.784G>C (p.E262Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31520773G>C" "" "VUS" "" "0000539854" "0" "50" "10" "31810679" "31810679" "subst" "0.00223282" "01943" "ZEB1_000045" "g.31810679A>G" "" "" "" "ZEB1(NM_001323638.1):c.1762A>G (p.T588A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521751A>G" "" "VUS" "" "0000539855" "0" "50" "10" "31810782" "31810782" "subst" "0.00758323" "01943" "ZEB1_000046" "g.31810782A>C" "" "" "" "ZEB1(NM_001323638.1):c.1865A>C (p.Q622P), ZEB1(NM_030751.6):c.2519A>C (p.Q840P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521854A>C" "" "VUS" "" "0000577928" "0" "90" "10" "31608165" "31608165" "subst" "0" "01369" "ZEB1_000013" "g.31608165T>G" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31319236T>G" "" "pathogenic" "" "0000577929" "0" "90" "10" "31608197" "31608197" "subst" "0" "01369" "ZEB1_000015" "g.31608197C>T" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31319268C>T" "" "pathogenic" "" "0000577930" "0" "90" "10" "31799759" "31799759" "subst" "0" "01369" "ZEB1_000020" "g.31799759C>T" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31510831C>T" "" "pathogenic" "" "0000577931" "0" "90" "10" "31809192" "31809192" "dup" "0" "01369" "ZEB1_000027" "g.31809192dup" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520264dup" "" "pathogenic" "" "0000577932" "0" "90" "10" "31809236" "31809236" "subst" "0" "01369" "ZEB1_000028" "g.31809236C>T" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520308C>T" "" "pathogenic" "" "0000577933" "0" "90" "10" "31809745" "31809745" "dup" "0" "01369" "ZEB1_000035" "g.31809745dup" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520817dup" "" "pathogenic" "" "0000577934" "0" "90" "10" "31809832" "31809832" "del" "0" "01369" "ZEB1_000036" "g.31809832del" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520904del" "" "pathogenic" "" "0000577935" "0" "90" "10" "31815807" "31815808" "del" "0" "01369" "ZEB1_000050" "g.31815807_31815808del" "" "{PMID:Aldave 2007:17935237}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31526879_31526880del" "" "pathogenic" "" "0000577936" "0" "90" "10" "31809839" "31809839" "dup" "0" "01369" "ZEB1_000037" "g.31809839dup" "" "{PMID:Bakhtiari 2013 :23559851}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520911dup" "" "pathogenic" "" "0000577937" "0" "90" "10" "31791405" "31791405" "del" "0" "01369" "ZEB1_000018" "g.31791405del" "" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31502477del" "" "pathogenic" "" "0000577938" "0" "90" "10" "31803535" "31803536" "del" "0" "01369" "ZEB1_000024" "g.31803535_31803536del" "" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31514607_31514608del" "" "pathogenic" "" "0000577939" "0" "90" "10" "31810176" "31810177" "del" "0" "01369" "ZEB1_000040" "g.31810176_31810177del" "" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31521248_31521249del" "" "pathogenic" "" "0000577940" "0" "90" "10" "31812909" "31812909" "del" "0" "01369" "ZEB1_000048" "g.31812909del" "" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31523981del" "" "pathogenic" "" "0000577941" "0" "90" "10" "31815933" "31815934" "del" "0" "01369" "ZEB1_000051" "g.31815933_31815934del" "" "{PMID:Bakhtiari 2013:23559851}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31527005_31527006del" "" "pathogenic" "" "0000577942" "0" "90" "10" "31799746" "31799746" "del" "0" "01369" "ZEB1_000019" "g.31799746del" "" "{PMID:Evans 2015:25441224}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31510818del" "" "pathogenic" "" "0000577943" "0" "90" "10" "31803529" "31803529" "subst" "0" "01369" "ZEB1_000023" "g.31803529A>G" "" "{PMID:Evans 2015:25441224}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31514601A>G" "" "pathogenic" "" "0000577944" "0" "90" "10" "31809439" "31809439" "dup" "0" "01369" "ZEB1_000030" "g.31809439dup" "" "{PMID:Evans 2015:25441224}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520511dup" "" "pathogenic" "" "0000577945" "0" "90" "10" "31809839" "31809839" "dup" "0" "01369" "ZEB1_000037" "g.31809839dup" "" "{PMID:Evans 2015:25441224}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520911dup" "" "pathogenic" "" "0000577946" "0" "90" "10" "31809980" "31809981" "del" "0" "01369" "ZEB1_000038" "g.31809980_31809981del" "" "{PMID:Evans 2015:25441224}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31521052_31521053del" "" "pathogenic" "" "0000577947" "0" "90" "10" "31810014" "31810014" "del" "0" "01369" "ZEB1_000039" "g.31810014del" "" "{PMID:Evans 2015:25441224}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31521086del" "" "pathogenic" "" "0000577948" "0" "90" "10" "31791405" "31791405" "del" "0" "01369" "ZEB1_000018" "g.31791405del" "" "{PMID:Jang 2014:24780443}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31502477del" "" "pathogenic" "" "0000577949" "0" "90" "10" "31809595" "31809598" "del" "0" "01369" "ZEB1_000031" "g.31809595_31809598del" "" "{PMID:Krafchak 2005:16252232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520667_31520670del" "" "pathogenic" "" "0000577950" "0" "90" "10" "31809611" "31809611" "subst" "0" "01369" "ZEB1_000032" "g.31809611C>T" "" "{PMID:Krafchak 2005:16252232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520683C>T" "" "pathogenic" "" "0000577951" "0" "90" "10" "31809839" "31809839" "dup" "0" "01369" "ZEB1_000037" "g.31809839dup" "" "{PMID:Krafchak 2005:16252232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520911dup" "" "pathogenic" "" "0000577952" "0" "90" "10" "31810445" "31810445" "subst" "0" "01369" "ZEB1_000042" "g.31810445G>T" "" "{PMID:Krafchak 2005:16252232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31521517G>T" "" "pathogenic" "" "0000577953" "0" "90" "10" "31815733" "31815734" "del" "0" "01369" "ZEB1_000049" "g.31815733_31815734del" "" "{PMID:Krafchak 2005:16252232}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31526805_31526806del" "" "pathogenic" "" "0000577954" "0" "90" "10" "31809839" "31809839" "dup" "0" "01369" "ZEB1_000037" "g.31809839dup" "" "{PMID:Lechner 2013:23599324}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520911dup" "" "pathogenic" "" "0000577955" "0" "90" "10" "31810512" "31810512" "subst" "0" "01369" "ZEB1_000043" "g.31810512C>A" "" "{PMID:Lechner 2013:23599324}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31521584C>A" "" "pathogenic" "" "0000577956" "0" "90" "10" "31809387" "31809387" "del" "0" "01369" "ZEB1_000029" "g.31809387del" "" "{PMID:Liskova 2007:17437275}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520459del" "" "pathogenic" "" "0000577957" "0" "90" "10" "31809650" "31809653" "del" "0" "01369" "ZEB1_000033" "g.31809650_31809653del" "" "{PMID:Liskova 2007:17437275}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31520722_31520725del" "" "pathogenic" "" "0000577958" "0" "90" "10" "31810420" "31810420" "subst" "0" "01369" "ZEB1_000041" "g.31810420C>G" "" "{PMID:Liskova 2007:17437275}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31521492C>G" "" "pathogenic" "" "0000577959" "0" "90" "10" "31810587" "31810587" "dup" "0" "01369" "ZEB1_000044" "g.31810587dup" "" "{PMID:Liskova 2007:17437275}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31521659dup" "" "pathogenic" "" "0000577960" "0" "90" "10" "31803544" "31803544" "dup" "0" "01369" "ZEB1_000026" "g.31803544dup" "" "{PMID:Liskova 2013:23807282}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31514616dup" "" "pathogenic" "" "0000577961" "0" "90" "10" "31812876" "31812876" "dup" "0" "01369" "ZEB1_000047" "g.31812876dup" "" "{PMID:Liskova 2013:23807282}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31523948dup" "" "pathogenic" "" "0000577962" "0" "90" "10" "31799791" "31799791" "del" "0" "01369" "ZEB1_000022" "g.31799791del" "" "{PMID:Nguyen 2010:19432861}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31510863del" "" "pathogenic" "" "0000577963" "0" "90" "10" "31608164" "31608164" "subst" "0" "01369" "ZEB1_000012" "g.31608164A>G" "" "{PMID:Vincent 2009:19997581}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31319235A>G" "" "pathogenic" "" "0000612457" "0" "50" "10" "31749984" "31749989" "del" "0" "01943" "ZEB1_000053" "g.31749984_31749989del" "" "" "" "ZEB1(NM_001128128.2):c.26_31delTGGTAG (p.V9_V10del), ZEB1(NM_001174096.2):c.77_82del (p.(Val26_Val27del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31461055_31461060del" "" "VUS" "" "0000612458" "0" "50" "10" "31810038" "31810038" "subst" "3.66497E-5" "01943" "ZEB1_000055" "g.31810038T>C" "" "" "" "ZEB1(NM_001323638.1):c.1121T>C (p.L374P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521110T>C" "" "VUS" "" "0000612459" "0" "30" "10" "31815907" "31815907" "subst" "0.000424728" "01943" "ZEB1_000056" "g.31815907G>A" "" "" "" "ZEB1(NM_001323638.1):c.2436G>A (p.R812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31526979G>A" "" "likely benign" "" "0000622384" "0" "30" "10" "31750087" "31750087" "subst" "0.0004965" "01943" "ZEB1_000054" "g.31750087C>T" "" "" "" "ZEB1(NM_001128128.2):c.129C>T (p.D43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31461158C>T" "" "likely benign" "" "0000647895" "1" "90" "10" "31810782" "31810782" "subst" "0.00758323" "03575" "ZEB1_000046" "g.31810782A>C" "17/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs118020901}" "Germline" "" "rs118020901" "0" "" "" "g.31521854A>C" "" "pathogenic" "" "0000690716" "0" "30" "10" "31810057" "31810057" "subst" "2.44337E-5" "01943" "ZEB1_000057" "g.31810057A>G" "" "" "" "ZEB1(NM_001323638.1):c.1140A>G (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690717" "0" "50" "10" "31812927" "31812927" "subst" "0.000130317" "01943" "ZEB1_000058" "g.31812927A>C" "" "" "" "ZEB1(NM_001323638.1):c.2014A>C (p.T672P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722809" "0" "30" "10" "31812962" "31812962" "subst" "0.000541513" "01943" "ZEB1_000059" "g.31812962T>C" "" "" "" "ZEB1(NM_001323638.1):c.2049T>C (p.N683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722810" "0" "50" "10" "31815890" "31815897" "del" "0" "01943" "ZEB1_000060" "g.31815890_31815897del" "" "" "" "ZEB1(NM_001323638.1):c.2419_2426delAGAGAGAG (p.R807Ffs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804413" "0" "50" "10" "31810514" "31810514" "subst" "0.00142844" "01943" "ZEB1_000061" "g.31810514A>G" "" "" "" "ZEB1(NM_001323638.1):c.1597A>G (p.T533A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000814412" "0" "90" "10" "31809703" "31809704" "del" "0" "00000" "ZEB1_000062" "g.31809703_31809704del" "" "{PMID:Lenassi 2020:31848469}" "" "ZEB1 c.1440_1441del p.(Gln481AlafsTer2) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.31520775_31520776del" "" "pathogenic" "ACMG" "0000852479" "0" "50" "10" "31809758" "31809758" "subst" "7.34988E-5" "01943" "ZEB1_000063" "g.31809758G>A" "" "" "" "ZEB1(NM_001323638.1):c.841G>A (p.A281T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852480" "0" "90" "10" "31809932" "31809932" "subst" "0" "02327" "ZEB1_000064" "g.31809932C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889123" "0" "70" "10" "31810321" "31810325" "dup" "0" "02327" "ZEB1_000065" "g.31810321_31810325dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000949385" "0" "30" "10" "31810782" "31810782" "subst" "0.00758323" "02325" "ZEB1_000046" "g.31810782A>C" "" "" "" "ZEB1(NM_001323638.1):c.1865A>C (p.Q622P), ZEB1(NM_030751.6):c.2519A>C (p.Q840P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000954076" "0" "90" "10" "31810297" "31810298" "del" "0" "00006" "ZEB1_000067" "g.31810297_31810298del" "" "{PMID:Moon 2021:35052368}" "" "2034_2035delAA" "" "Germline" "" "" "0" "" "" "g.31521369_31521370del" "" "pathogenic" "" "0000954077" "0" "90" "10" "31809839" "31809839" "del" "0" "00006" "ZEB1_000066" "g.31809839del" "" "{PMID:Moon 2021:35052368}" "" "1576delG" "" "Germline" "" "" "0" "" "" "g.31520911del" "" "pathogenic" "" "0000979020" "0" "50" "10" "31749984" "31749989" "del" "0" "01804" "ZEB1_000053" "g.31749984_31749989del" "" "" "" "ZEB1(NM_001128128.2):c.26_31delTGGTAG (p.V9_V10del), ZEB1(NM_001174096.2):c.77_82del (p.(Val26_Val27del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979021" "0" "30" "10" "31791444" "31791444" "subst" "0" "01804" "ZEB1_000068" "g.31791444G>T" "" "" "" "ZEB1(NM_001174096.2):c.484+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979022" "0" "30" "10" "31809048" "31809051" "del" "0" "01804" "ZEB1_000069" "g.31809048_31809051del" "" "" "" "ZEB1(NM_001174096.2):c.794-6_794-3del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998271" "0" "30" "10" "31608180" "31608180" "subst" "0" "01804" "ZEB1_000070" "g.31608180G>A" "" "" "" "ZEB1(NM_030751.5):c.17G>A (p.(Arg6Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998272" "0" "50" "10" "31750053" "31750053" "subst" "1.6276E-5" "01804" "ZEB1_000071" "g.31750053A>T" "" "" "" "ZEB1(NM_001174093.1):c.146A>T (p.(Asp49Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998273" "0" "90" "10" "31750140" "31750140" "subst" "0.00374135" "01804" "ZEB1_000072" "g.31750140A>C" "" "" "" "ZEB1(NM_001174093.1):c.233A>C (p.(Asn78Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001037884" "0" "50" "10" "31799776" "31799776" "subst" "1.62787E-5" "01804" "ZEB1_000073" "g.31799776G>T" "" "" "" "ZEB1(NM_001323638.2):c.3G>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037885" "0" "30" "10" "31809701" "31809701" "subst" "8.56674E-5" "01804" "ZEB1_000034" "g.31809701G>C" "" "" "" "ZEB1(NM_001174096.2):c.1441G>C (p.(Glu481Gln)), ZEB1(NM_001323638.1):c.784G>C (p.E262Q)" "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 ZEB1 ## Count = 116 "{{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}}" "0000075679" "00023119" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_9_" "0000075680" "00023119" "90" "319" "28" "42930" "0" "c.319+28_*39555delinsACACACAC" "r.?" "p.?" "3i_9_" "0000079005" "00023119" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_9_" "0000081435" "00023119" "70" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Lys34Arg)" "2" "0000313130" "00025917" "10" "688" "-15" "688" "-15" "c.688-15G>A" "r.(=)" "p.(=)" "" "0000313130" "00023119" "10" "685" "-15" "685" "-15" "c.685-15G>A" "r.(=)" "p.(=)" "" "0000321476" "00025917" "30" "792" "0" "792" "0" "c.792T>C" "r.(?)" "p.(Ser264=)" "" "0000321476" "00023119" "30" "789" "0" "789" "0" "c.789T>C" "r.(?)" "p.(Ser263=)" "" "0000321477" "00025917" "50" "988" "0" "988" "0" "c.988C>T" "r.(?)" "p.(Arg330Trp)" "" "0000321477" "00023119" "50" "985" "0" "985" "0" "c.985C>T" "r.(?)" "p.(Arg329Trp)" "" "0000321478" "00025917" "30" "1977" "0" "1977" "0" "c.1977C>G" "r.(?)" "p.(Asn659Lys)" "" "0000321478" "00023119" "30" "1974" "0" "1974" "0" "c.1974C>G" "r.(?)" "p.(Asn658Lys)" "" "0000321479" "00025917" "30" "3210" "0" "3212" "0" "c.3210_3212del" "r.(?)" "p.(Glu1072del)" "" "0000321479" "00023119" "30" "3207" "0" "3209" "0" "c.3207_3209del" "r.(?)" "p.(Glu1071del)" "" "0000347695" "00025917" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000347695" "00023119" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000539848" "00025917" "50" "15" "0" "15" "0" "c.15del" "r.(?)" "p.(Arg6GlyfsTer22)" "" "0000539848" "00023119" "50" "15" "0" "15" "0" "c.15del" "r.(?)" "p.(Arg6GlyfsTer22)" "" "0000539849" "00025917" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Pro57Leu)" "" "0000539849" "00023119" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Pro57Leu)" "" "0000539850" "00025917" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Gln121Ter)" "" "0000539850" "00023119" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Gln120Ter)" "" "0000539851" "00025917" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218His)" "" "0000539851" "00023119" "50" "650" "0" "650" "0" "c.650G>A" "r.(?)" "p.(Arg217His)" "" "0000539852" "00025917" "30" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Thr233=)" "" "0000539852" "00023119" "30" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(Thr232=)" "" "0000539853" "00025917" "50" "1441" "0" "1441" "0" "c.1441G>C" "r.(?)" "p.(Glu481Gln)" "" "0000539853" "00023119" "50" "1438" "0" "1438" "0" "c.1438G>C" "r.(?)" "p.(Glu480Gln)" "" "0000539854" "00025917" "50" "2419" "0" "2419" "0" "c.2419A>G" "r.(?)" "p.(Thr807Ala)" "" "0000539854" "00023119" "50" "2416" "0" "2416" "0" "c.2416A>G" "r.(?)" "p.(Thr806Ala)" "" "0000539855" "00025917" "50" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "" "0000539855" "00023119" "50" "2519" "0" "2519" "0" "c.2519A>C" "r.(?)" "p.(Gln840Pro)" "" "0000577928" "00023119" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000577929" "00023119" "90" "34" "0" "34" "0" "c.34C>T" "r.(?)" "p.(Gln12*)" "" "0000577930" "00023119" "90" "640" "0" "640" "0" "c.640C>T" "r.(?)" "p.(Gln214*)" "" "0000577931" "00023119" "90" "929" "0" "929" "0" "c.929dup" "r.(?)" "p.(Cys311Valfs*25)" "" "0000577932" "00023119" "90" "973" "0" "973" "0" "c.973C>T" "r.(?)" "p.(Arg325*)" "" "0000577933" "00023119" "90" "1482" "0" "1482" "0" "c.1482dup" "r.(?)" "p.(Glu495Argfs*10)" "" "0000577934" "00023119" "90" "1569" "0" "1569" "0" "c.1569del" "r.(?)" "p.(Val526*)" "" "0000577935" "00023119" "90" "2990" "0" "2991" "0" "c.2990_2991del" "r.(?)" "p.(Glu997Alafs*7)" "" "0000577936" "00023119" "90" "1576" "0" "1576" "0" "c.1576dup" "r.(?)" "p.(Val526Glyfs*3)" "" "0000577937" "00023119" "90" "449" "0" "449" "0" "c.449del" "r.(?)" "p.(Gly150Alafs*36)" "" "0000577938" "00023119" "90" "689" "0" "690" "0" "c.689_690del" "r.(?)" "p.(His230Argfs*7)" "" "0000577939" "00023119" "90" "1913" "0" "1914" "0" "c.1913_1914del" "r.(?)" "p.(Ser638Cysfs*5)" "" "0000577940" "00023119" "90" "2650" "0" "2650" "0" "c.2650del" "r.(?)" "p.(Gln884Argfs*37)" "" "0000577941" "00023119" "90" "3116" "0" "3117" "0" "c.3116_3117del" "r.(?)" "p.(Glu1039Glyfs*6)" "" "0000577942" "00023119" "90" "627" "0" "627" "0" "c.627del" "r.(?)" "p.(Phe209Leufs*11)" "" "0000577943" "00023119" "90" "685" "-2" "685" "-2" "c.685-2A>G" "r.spl" "p.(?)" "" "0000577944" "00023119" "90" "1176" "0" "1176" "0" "c.1176dup" "r.(?)" "p.(Ala393Serfs*19)" "" "0000577945" "00023119" "90" "1576" "0" "1576" "0" "c.1576dup" "r.(?)" "p.(Val526Glyfs*3)" "" "0000577946" "00023119" "90" "1717" "0" "1718" "0" "c.1717_1718del" "r.(?)" "p.(Val573Phefs*12)" "" "0000577947" "00023119" "90" "1751" "0" "1751" "0" "c.1751del" "r.(?)" "p.(Pro584Leufs*6)" "" "0000577948" "00023119" "90" "449" "0" "449" "0" "c.449del" "r.(?)" "p.(Gly150Alafs*36)" "" "0000577949" "00023119" "90" "1332" "0" "1335" "0" "c.1332_1335del" "r.(?)" "p.(Ile444Metfs*48)" "" "0000577950" "00023119" "90" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Gln450*)" "" "0000577951" "00023119" "90" "1576" "0" "1576" "0" "c.1576dup" "r.(?)" "p.(Val526Glyfs*3)" "" "0000577952" "00023119" "90" "2182" "0" "2182" "0" "c.2182G>T" "r.(?)" "p.(Glu728*)" "" "0000577953" "00023119" "90" "2916" "0" "2917" "0" "c.2916_2917del" "r.(?)" "p.(Gly973Valfs*14)" "" "0000577954" "00023119" "90" "1576" "0" "1576" "0" "c.1576dup" "r.(?)" "p.(Val526Glyfs*3)" "" "0000577955" "00023119" "90" "2249" "0" "2249" "0" "c.2249C>A" "r.(?)" "p.(Ser750*)" "" "0000577956" "00023119" "90" "1124" "0" "1124" "0" "c.1124del" "r.(?)" "p.(Phe375Serfs*31)" "" "0000577957" "00023119" "90" "1387" "0" "1390" "0" "c.1387_1390del" "r.(?)" "p.(Pro463Trpfs*29)" "" "0000577958" "00023119" "90" "2157" "0" "2157" "0" "c.2157C>G" "r.(?)" "p.(Tyr719*)" "" "0000577959" "00023119" "90" "2324" "0" "2324" "0" "c.2324dup" "r.(?)" "p.(Glu776Glyfs*44)" "" "0000577960" "00023119" "90" "698" "0" "698" "0" "c.698dup" "r.(?)" "p.(Ser234Valfs*4)" "" "0000577961" "00023119" "90" "2617" "0" "2617" "0" "c.2617dup" "r.(?)" "p.(Thr873Asnfs*2)" "" "0000577962" "00023119" "90" "672" "0" "672" "0" "c.672del" "r.(?)" "p.(Gly225Glufs*7)" "" "0000577963" "00023119" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000612457" "00025917" "50" "77" "0" "82" "0" "c.77_82del" "r.(?)" "p.(Val26_Val27del)" "" "0000612457" "00023119" "50" "77" "0" "82" "0" "c.77_82del" "r.(?)" "p.(Val26_Val27del)" "" "0000612458" "00025917" "50" "1778" "0" "1778" "0" "c.1778T>C" "r.(?)" "p.(Leu593Pro)" "" "0000612458" "00023119" "50" "1775" "0" "1775" "0" "c.1775T>C" "r.(?)" "p.(Leu592Pro)" "" "0000612459" "00025917" "30" "3093" "0" "3093" "0" "c.3093G>A" "r.(?)" "p.(Arg1031=)" "" "0000612459" "00023119" "30" "3090" "0" "3090" "0" "c.3090G>A" "r.(?)" "p.(Arg1030=)" "" "0000622384" "00025917" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Asp60=)" "" "0000622384" "00023119" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Asp60=)" "" "0000647895" "00025917" "90" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "" "0000647895" "00023119" "90" "2519" "0" "2519" "0" "c.2519A>C" "r.(?)" "p.(Gln840Pro)" "" "0000690716" "00025917" "30" "1797" "0" "1797" "0" "c.1797A>G" "r.(?)" "p.(Ala599=)" "" "0000690716" "00023119" "30" "1794" "0" "1794" "0" "c.1794A>G" "r.(?)" "p.(Ala598=)" "" "0000690717" "00025917" "50" "2671" "0" "2671" "0" "c.2671A>C" "r.(?)" "p.(Thr891Pro)" "" "0000690717" "00023119" "50" "2668" "0" "2668" "0" "c.2668A>C" "r.(?)" "p.(Thr890Pro)" "" "0000722809" "00025917" "30" "2706" "0" "2706" "0" "c.2706T>C" "r.(?)" "p.(Asn902=)" "" "0000722809" "00023119" "30" "2703" "0" "2703" "0" "c.2703T>C" "r.(?)" "p.(Asn901=)" "" "0000722810" "00025917" "50" "3076" "0" "3083" "0" "c.3076_3083del" "r.(?)" "p.(Arg1026Phefs*7)" "" "0000722810" "00023119" "50" "3073" "0" "3080" "0" "c.3073_3080del" "r.(?)" "p.(Arg1025Phefs*7)" "" "0000804413" "00025917" "50" "2254" "0" "2254" "0" "c.2254A>G" "r.(?)" "p.(Thr752Ala)" "" "0000804413" "00023119" "50" "2251" "0" "2251" "0" "c.2251A>G" "r.(?)" "p.(Thr751Ala)" "" "0000814412" "00025917" "90" "1443" "0" "1444" "0" "c.1443_1444del" "r.(?)" "p.(Gln482Alafs*2)" "" "0000814412" "00023119" "90" "1440" "0" "1441" "0" "c.1440_1441del" "r.(?)" "p.(Gln481AlafsTer2)" "" "0000852479" "00025917" "50" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Ala500Thr)" "" "0000852479" "00023119" "50" "1495" "0" "1495" "0" "c.1495G>A" "r.(?)" "p.(Ala499Thr)" "" "0000852480" "00025917" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Gln558*)" "" "0000852480" "00023119" "90" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Gln557*)" "" "0000889123" "00025917" "70" "2061" "0" "2065" "0" "c.2061_2065dup" "r.(?)" "p.(Val689Alafs*23)" "" "0000889123" "00023119" "70" "2058" "0" "2062" "0" "c.2058_2062dup" "r.(?)" "p.(Val688Alafs*23)" "" "0000949385" "00025917" "30" "2522" "0" "2522" "0" "c.2522A>C" "r.(?)" "p.(Gln841Pro)" "" "0000949385" "00023119" "30" "2519" "0" "2519" "0" "c.2519A>C" "r.(?)" "p.(Gln840Pro)" "" "0000954076" "00023119" "90" "2034" "0" "2035" "0" "c.2034_2035del" "r.(?)" "p.(Pro680PhefsTer5)" "" "0000954077" "00023119" "90" "1576" "0" "1576" "0" "c.1576del" "r.(?)" "p.(Val526Ter)" "" "0000979020" "00025917" "50" "77" "0" "82" "0" "c.77_82del" "r.(?)" "p.(Val26_Val27del)" "" "0000979020" "00023119" "50" "77" "0" "82" "0" "c.77_82del" "r.(?)" "p.(Val26_Val27del)" "" "0000979021" "00025917" "30" "484" "7" "484" "7" "c.484+7G>T" "r.(=)" "p.(=)" "" "0000979021" "00023119" "30" "481" "7" "481" "7" "c.481+7G>T" "r.(=)" "p.(=)" "" "0000979022" "00025917" "30" "794" "-6" "794" "-3" "c.794-6_794-3del" "r.spl?" "p.?" "" "0000979022" "00023119" "30" "791" "-6" "791" "-3" "c.791-6_791-3del" "r.spl?" "p.?" "" "0000998271" "00025917" "30" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Arg6Lys)" "" "0000998271" "00023119" "30" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Arg6Lys)" "" "0000998272" "00025917" "50" "146" "0" "146" "0" "c.146A>T" "r.(?)" "p.(Asp49Val)" "" "0000998272" "00023119" "50" "146" "0" "146" "0" "c.146A>T" "r.(?)" "p.(Asp49Val)" "" "0000998273" "00025917" "90" "233" "0" "233" "0" "c.233A>C" "r.(?)" "p.(Asn78Thr)" "" "0000998273" "00023119" "90" "233" "0" "233" "0" "c.233A>C" "r.(?)" "p.(Asn78Thr)" "" "0001037884" "00025917" "50" "660" "0" "660" "0" "c.660G>T" "r.(?)" "p.(Met220Ile)" "" "0001037884" "00023119" "50" "657" "0" "657" "0" "c.657G>T" "r.(?)" "p.(Met219Ile)" "" "0001037885" "00025917" "30" "1441" "0" "1441" "0" "c.1441G>C" "r.(?)" "p.(Glu481Gln)" "" "0001037885" "00023119" "30" "1438" "0" "1438" "0" "c.1438G>C" "r.(?)" "p.(Glu480Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000047011" "0000075679" "0000047012" "0000075680" "0000050051" "0000079005" "0000249202" "0000577928" "0000249203" "0000577929" "0000249204" "0000577930" "0000249205" "0000577931" "0000249206" "0000577932" "0000249207" "0000577933" "0000249208" "0000577934" "0000249209" "0000577935" "0000249210" "0000577936" "0000249211" "0000577937" "0000249212" "0000577938" "0000249213" "0000577939" "0000249214" "0000577940" "0000249215" "0000577941" "0000249216" "0000577942" "0000249217" "0000577943" "0000249218" "0000577944" "0000249219" "0000577945" "0000249220" "0000577946" "0000249221" "0000577947" "0000249222" "0000577948" "0000249223" "0000577949" "0000249224" "0000577950" "0000249225" "0000577951" "0000249226" "0000577952" "0000249227" "0000577953" "0000249228" "0000577954" "0000249229" "0000577955" "0000249230" "0000577956" "0000249231" "0000577957" "0000249232" "0000577958" "0000249233" "0000577959" "0000249234" "0000577960" "0000249235" "0000577961" "0000249236" "0000577962" "0000249237" "0000577963" "0000291206" "0000647895" "0000386732" "0000814412" "0000445891" "0000954076" "0000445892" "0000954077"