### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ESCO2) # 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}}" "ESCO2" "establishment of cohesion 1 homolog 2 (S. cerevisiae)" "8" "p21.1" "unknown" "NG_008117.1" "UD_132118213021" "" "https://www.LOVD.nl/ESCO2" "" "1" "27230" "157570" "609353" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ESCO2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2008-05-30 00:00:00" "00006" "2017-08-04 14:50:46" "00006" "2025-11-20 12:33:25" ## 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}}" "00007242" "ESCO2" "establishment of cohesion 1 homolog 2 (S. cerevisiae)" "001" "NM_001017420.2" "" "NP_001017420.1" "" "" "" "-83" "3276" "1806" "27632058" "27662425" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00648" "RBS" "Roberts syndrome (RBS)" "AR" "268300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00649" "-" "SC phocomelia syndrome" "AR" "269000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ESCO2" "00139" "ESCO2" "00648" "ESCO2" "00649" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00112160" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Italy" "" "0" "" "" "" "" "00112161" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "" "" "" "United States" "" "0" "" "" "" "" "00112162" "" "" "" "1" "" "02176" "{PMID:Schule 2005:16380922}" "" "F" "" "" "" "0" "" "" "Hispanic" "" "00112163" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "" "" "" "United States" "" "0" "" "" "" "" "00112164" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Turkey" "" "0" "" "" "" "" "00112165" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Colombia" "" "0" "" "" "" "" "00112166" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Colombia" "" "0" "" "" "" "" "00112167" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Colombia" "" "0" "" "" "" "" "00112168" "" "" "" "1" "" "02176" "{PMID:Schule 2005:16380922}" "" "F" "" "Germany" "" "0" "" "" "" "" "00112169" "" "" "" "1" "" "02176" "{PMID:Resta 2006:16775838}" "" "" "" "" "" "0" "" "" "" "" "00112170" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Colombia" "" "0" "" "" "" "" "00112171" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Colombia" "" "0" "" "" "" "" "00112172" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Colombia" "" "0" "" "" "" "" "00112173" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Colombia" "" "0" "" "" "" "" "00112174" "" "" "" "1" "" "02176" "{PMID:Schule 2005:16380922}" "" "F" "" "" "" "0" "" "" "white" "" "00112175" "" "" "" "1" "" "02176" "{PMID:Schule 2005:16380922}" "" "M" "" "" "" "0" "" "" "white" "" "00112176" "" "" "" "2" "" "02176" "{PMID:Gordillo 2008:18411254}" "" "" "" "Mexico" "" "0" "" "" "" "" "00112177" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "" "" "" "Italy" "" "0" "" "" "" "" "00112178" "" "" "" "1" "" "02176" "" "" "F" "" "Somalia" "" "0" "" "" "" "" "00112179" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "VU1366" "" "" "Tunisia" "" "0" "" "" "" "" "00112180" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#3309" "" "" "France" "" "0" "" "" "" "" "00112181" "" "" "" "1" "" "02176" "" "" "M" "" "Brazil" "" "0" "" "" "" "" "00112182" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Turkey" "" "0" "" "" "" "" "00112183" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Turkey" "" "0" "" "" "" "" "00112184" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Turkey" "" "0" "" "" "" "" "00112185" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#VU1400" "" "" "Netherlands" "" "0" "" "" "" "" "00112186" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#3406" "" "" "Turkey" "" "0" "" "" "" "" "00112187" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#KAT" "" "" "Turkey" "" "0" "" "" "" "" "00112188" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#SRSyM1" "" "" "Sudan" "" "0" "" "" "" "" "00112189" "" "" "" "1" "" "02176" "{PMID:Schulz 2008:18186147}" "" "" "" "Pakistan" "" "0" "" "" "" "" "00112190" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#60749" "" "" "Pakistan" "" "0" "" "" "" "" "00112191" "" "" "" "1" "" "02176" "" "" "" "" "" "" "0" "" "" "Indian" "" "00112192" "" "" "" "1" "" "02176" "" "" "" "" "Germany" "" "0" "" "" "" "" "00112193" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Turkey" "" "0" "" "" "" "" "00112194" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "" "" "" "Denmark" "" "0" "" "" "" "" "00112195" "" "" "" "1" "" "02176" "{PMID:Schule 2005:16380922}" "" "M" "" "" "" "0" "" "" "African-American" "" "00112196" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#3303" "" "" "Turkey" "" "0" "" "" "" "" "00112197" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#3314" "" "" "Finland" "" "0" "" "" "" "" "00112198" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Turkey" "" "0" "" "" "" "" "00112199" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "UIM" "" "" "Italy" "" "0" "" "" "" "" "00112200" "" "" "" "1" "" "02176" "{PMID:Vega 2005:15821733}" "" "" "" "Canada" "" "0" "" "" "" "" "00112201" "" "" "" "1" "" "02176" "{PMID:Gordillo 2008:18411254}" "ID#RIS" "" "" "Israel" "" "0" "" "" "" "" "00132072" "" "" "" "1" "" "01396" "" "" "F" "no" "Brazil" "" "0" "" "" "" "1" "00183239" "" "" "" "1" "" "00571" "" "" "F" "yes" "Iran" ">02y" "0" "" "" "" "" "00276054" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00294624" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294625" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00469888" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 48 "{{individualid}}" "{{diseaseid}}" "00112160" "00648" "00112161" "00648" "00112162" "00648" "00112163" "00648" "00112164" "00648" "00112165" "00648" "00112166" "00648" "00112167" "00648" "00112168" "00649" "00112169" "00648" "00112170" "00648" "00112171" "00648" "00112172" "00648" "00112173" "00648" "00112174" "00648" "00112175" "00649" "00112176" "00648" "00112177" "00648" "00112178" "00648" "00112179" "00648" "00112180" "00648" "00112181" "00648" "00112182" "00648" "00112183" "00648" "00112184" "00648" "00112185" "00648" "00112186" "00648" "00112187" "00648" "00112188" "00648" "00112189" "00648" "00112190" "00648" "00112191" "00648" "00112192" "00198" "00112193" "00648" "00112194" "00648" "00112195" "00649" "00112196" "00648" "00112197" "00648" "00112198" "00648" "00112199" "00648" "00112200" "00648" "00112201" "00648" "00132072" "00648" "00183239" "00648" "00276054" "00198" "00294624" "00198" "00294625" "00198" "00469888" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00648, 00649, 05517 ## Count = 46 "{{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}}" "0000087724" "00648" "00112160" "02176" "Familial, autosomal recessive" "" "Family 9" "" "" "" "" "" "" "" "" "" "" "" "0000087725" "00648" "00112161" "02176" "Familial, autosomal recessive" "" "Family 1" "" "" "" "" "" "" "" "" "" "" "" "0000087726" "00648" "00112162" "02176" "Familial, autosomal recessive" "" "Family 4" "" "" "" "" "" "" "" "" "" "" "" "0000087727" "00648" "00112163" "02176" "Familial, autosomal recessive" "" "Family 2" "" "" "" "" "" "" "" "" "" "" "" "0000087728" "00648" "00112164" "02176" "Familial, autosomal recessive" "" "Family 15" "" "" "" "" "" "" "" "" "" "" "" "0000087729" "00648" "00112165" "02176" "Familial, autosomal recessive" "" "Family 4" "" "" "" "" "" "" "" "" "" "" "" "0000087730" "00648" "00112166" "02176" "Familial, autosomal recessive" "" "Family 5" "" "" "" "" "" "" "" "" "" "" "" "0000087731" "00648" "00112167" "02176" "Familial, autosomal recessive" "" "Family 7" "" "" "" "" "" "" "" "" "" "" "" "0000087732" "00649" "00112168" "02176" "Familial, autosomal recessive" "" "Family 2" "" "" "" "" "" "" "" "" "" "" "" "0000087733" "00648" "00112169" "02176" "Familial, autosomal recessive" "" "case report" "" "" "" "" "" "" "" "" "" "" "" "0000087734" "00648" "00112170" "02176" "Familial, autosomal recessive" "" "Family 1" "" "" "" "" "" "" "" "" "" "" "" "0000087735" "00648" "00112171" "02176" "Familial, autosomal recessive" "" "Family 2" "" "" "" "" "" "" "" "" "" "" "" "0000087736" "00648" "00112172" "02176" "Familial, autosomal recessive" "" "Family 3" "" "" "" "" "" "" "" "" "" "" "" "0000087737" "00648" "00112173" "02176" "Familial, autosomal recessive" "" "Family 6" "" "" "" "" "" "" "" "" "" "" "" "0000087738" "00648" "00112174" "02176" "Familial, autosomal recessive" "" "Family 5" "" "" "" "" "" "" "" "" "" "" "" "0000087739" "00649" "00112175" "02176" "Familial, autosomal recessive" "" "Family 1" "" "" "" "" "" "" "" "" "" "" "" "0000087740" "00648" "00112176" "02176" "Familial, autosomal recessive" "" "Family 3" "" "" "" "" "" "" "" "" "" "" "" "0000087741" "00648" "00112177" "02176" "Familial, autosomal recessive" "" "Family 4" "" "" "" "" "" "" "" "" "" "" "" "0000087742" "00648" "00112178" "02176" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087743" "00648" "00112179" "02176" "Familial, autosomal recessive" "" "Family 5" "" "" "" "" "" "" "" "" "" "" "" "0000087744" "00648" "00112180" "02176" "Familial, autosomal recessive" "" "Family 6" "" "" "" "" "" "" "" "" "" "" "" "0000087745" "00648" "00112181" "02176" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087746" "00648" "00112182" "02176" "Familial, autosomal recessive" "" "Family 12" "" "" "" "" "" "" "" "" "" "" "" "0000087747" "00648" "00112183" "02176" "Familial, autosomal recessive" "" "Family 13" "" "" "" "" "" "" "" "" "" "" "" "0000087748" "00648" "00112184" "02176" "Familial, autosomal recessive" "" "Family 14" "" "" "" "" "" "" "" "" "" "" "" "0000087749" "00648" "00112185" "02176" "Familial, autosomal recessive" "" "Family 7" "" "" "" "" "" "" "" "" "" "" "" "0000087750" "00648" "00112186" "02176" "Familial, autosomal recessive" "" "Family 8" "" "" "" "" "" "" "" "" "" "" "" "0000087751" "00648" "00112187" "02176" "Familial, autosomal recessive" "" "Family 9" "" "" "" "" "" "" "" "" "" "" "" "0000087752" "00648" "00112188" "02176" "Familial, autosomal recessive" "" "Family 10" "" "" "" "" "" "" "" "" "" "" "" "0000087753" "00648" "00112189" "02176" "Familial, autosomal recessive" "" "case report" "" "" "" "" "" "" "" "" "" "" "" "0000087754" "00648" "00112190" "02176" "Familial, autosomal recessive" "" "Family 11" "" "" "" "" "" "" "" "" "" "" "" "0000087755" "00648" "00112191" "02176" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087756" "00198" "00112192" "02176" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000087757" "00648" "00112193" "02176" "Familial, autosomal recessive" "" "Family 11" "" "" "" "" "" "" "" "" "" "" "" "0000087758" "00648" "00112194" "02176" "Familial, autosomal recessive" "" "Family 12" "" "" "" "" "" "" "" "" "" "" "" "0000087759" "00649" "00112195" "02176" "Familial, autosomal recessive" "" "Family 3" "" "" "" "" "" "" "" "" "" "" "" "0000087760" "00648" "00112196" "02176" "Familial, autosomal recessive" "" "Family 13" "" "" "" "" "" "" "" "" "" "" "" "0000087761" "00648" "00112197" "02176" "Familial, autosomal recessive" "" "Family 14" "" "" "" "" "" "" "" "" "" "" "" "0000087762" "00648" "00112198" "02176" "Familial, autosomal recessive" "" "Family 10" "" "" "" "" "" "" "" "" "" "" "" "0000087763" "00648" "00112199" "02176" "Familial, autosomal recessive" "" "Family 15" "" "" "" "" "" "" "" "" "" "" "" "0000087764" "00648" "00112200" "02176" "Familial, autosomal recessive" "" "Family 8" "" "" "" "" "" "" "" "" "" "" "" "0000087765" "00648" "00112201" "02176" "Familial, autosomal recessive" "" "Family 16" "" "" "" "" "" "" "" "" "" "" "" "0000104264" "00648" "00132072" "01396" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143970" "00648" "00183239" "00571" "Familial, autosomal recessive" "" "bilateral radial ray hypoplasia, absent thumbs, bilateral club feet, knee joints stiffness, craniosynostosis, a large frontal hemangioma, craniofacial dysmorphisms (large alae nasi, small nose with deep nasal bridge, arched palate, micrognathia, simple ears, short neck), bilateral glaucoma, hypotonia, neurodevelopmental delay." "" "" "" "" "" "" "" "" "Roberts syndrome" "Baller Gerold syndrome" "" "0000210610" "00198" "00276054" "01807" "Unknown" "" "Microcephaly (HP:0000252); Short stature (HP:0004322); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "0000355033" "05517" "00469888" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RBS" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000112618" "00112160" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112619" "00112161" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112620" "00112162" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112621" "00112163" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112622" "00112164" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112623" "00112165" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112624" "00112166" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112625" "00112167" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112626" "00112168" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112627" "00112169" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112628" "00112170" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112629" "00112171" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112630" "00112172" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112631" "00112173" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112632" "00112174" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112633" "00112175" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112634" "00112176" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112635" "00112177" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112636" "00112178" "1" "02176" "02176" "2008-11-26 23:57:20" "" "" "SEQ" "DNA" "" "" "0000112637" "00112179" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112638" "00112180" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112639" "00112181" "1" "02176" "02176" "2008-11-26 23:59:36" "" "" "SEQ" "DNA" "" "" "0000112640" "00112182" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112641" "00112183" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112642" "00112184" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112643" "00112185" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112644" "00112186" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112645" "00112187" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112646" "00112188" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112647" "00112189" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112648" "00112190" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112649" "00112191" "1" "02176" "02176" "2008-11-26 23:55:30" "02176" "2008-11-27 00:02:46" "SEQ" "DNA" "" "" "0000112650" "00112192" "1" "02176" "02176" "2008-06-21 01:05:54" "02176" "2008-06-21 01:06:59" "SEQ" "DNA" "" "" "0000112651" "00112193" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112652" "00112194" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112653" "00112195" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000112654" "00112196" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000112655" "00112197" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2008-06-05 07:16:58" "SEQ" "DNA" "" "" "0000112656" "00112198" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112657" "00112199" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112658" "00112200" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000112659" "00112201" "1" "02176" "02176" "2008-06-05 07:15:55" "02176" "2017-08-04 14:56:53" "SEQ" "DNA" "" "" "0000132911" "00132072" "1" "01396" "01396" "2017-10-18 18:40:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000184196" "00183239" "1" "00571" "00571" "2018-10-17 14:30:28" "" "" "SEQ;SEQ-NG" "DNA" "white blood cells" "" "0000277201" "00276054" "1" "01807" "01807" "2020-01-24 11:03:07" "" "" "SEQ" "DNA" "" "" "0000295792" "00294624" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295793" "00294625" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000471556" "00469888" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{geneid}}" "0000112618" "ESCO2" "0000112619" "ESCO2" "0000112620" "ESCO2" "0000112621" "ESCO2" "0000112622" "ESCO2" "0000112623" "ESCO2" "0000112624" "ESCO2" "0000112625" "ESCO2" "0000112626" "ESCO2" "0000112627" "ESCO2" "0000112628" "ESCO2" "0000112629" "ESCO2" "0000112630" "ESCO2" "0000112631" "ESCO2" "0000112632" "ESCO2" "0000112633" "ESCO2" "0000112634" "ESCO2" "0000112635" "ESCO2" "0000112636" "ESCO2" "0000112637" "ESCO2" "0000112638" "ESCO2" "0000112639" "ESCO2" "0000112640" "ESCO2" "0000112641" "ESCO2" "0000112642" "ESCO2" "0000112643" "ESCO2" "0000112644" "ESCO2" "0000112645" "ESCO2" "0000112646" "ESCO2" "0000112647" "ESCO2" "0000112648" "ESCO2" "0000112649" "ESCO2" "0000112650" "ESCO2" "0000112651" "ESCO2" "0000112652" "ESCO2" "0000112653" "ESCO2" "0000112654" "ESCO2" "0000112655" "ESCO2" "0000112656" "ESCO2" "0000112657" "ESCO2" "0000112658" "ESCO2" "0000112659" "ESCO2" "0000132911" "ESCO2" "0000184196" "ESCO2" ## 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 = 95 "{{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}}" "0000181178" "3" "99" "8" "27634077" "27634078" "del" "0" "02176" "ESCO2_000004" "g.27634077_27634078del" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27776560_27776561del" "" "pathogenic" "" "0000181179" "0" "99" "8" "27634119" "27634122" "del" "0" "02176" "ESCO2_000016" "g.27634119_27634122del" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID#G197" "Germline" "" "" "0" "" "" "g.27776602_27776605del" "" "pathogenic" "" "0000181180" "3" "99" "8" "27634132" "27634136" "del" "0" "02176" "ESCO2_000014" "g.27634132_27634136delAGAAA" "" "{PMID:Schule 2005:16380922}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.27776615_27776619delAGAAA" "" "pathogenic" "" "0000181181" "0" "99" "8" "27634133" "27634134" "del" "0" "02176" "ESCO2_000017" "g.27634133_27634134del" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID:G208" "Germline" "" "" "0" "" "" "g.27776616_27776617del" "" "pathogenic" "" "0000181182" "3" "99" "8" "27634242" "27634242" "dup" "0" "02176" "ESCO2_000008" "g.27634242dup" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27776725dup" "" "pathogenic" "" "0000181183" "3" "99" "8" "27634330" "27634330" "subst" "4.06412E-6" "02176" "ESCO2_000002" "g.27634330C>T" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27776813C>T" "" "pathogenic" "" "0000181184" "3" "99" "8" "27634330" "27634330" "subst" "4.06412E-6" "02176" "ESCO2_000002" "g.27634330C>T" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27776813C>T" "" "pathogenic" "" "0000181185" "3" "99" "8" "27634330" "27634330" "subst" "4.06412E-6" "02176" "ESCO2_000002" "g.27634330C>T" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27776813C>T" "" "pathogenic" "" "0000181186" "0" "99" "8" "27634429" "27634429" "subst" "0" "02176" "ESCO2_000011" "g.27634429C>T" "" "{PMID:Schule 2005:16380922}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.27776912C>T" "" "pathogenic" "" "0000181187" "3" "99" "8" "27634570" "27634571" "del" "0" "02176" "ESCO2_000025" "g.27634570_27634571del" "" "{PMID:Resta 2006:16775838}" "" "" "" "Germline" "" "" "0" "" "" "g.27777053_27777054del" "" "pathogenic" "" "0000181188" "3" "99" "8" "27634576" "27634576" "dup" "0" "02176" "ESCO2_000001" "g.27634576dup" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27777059dup" "" "pathogenic" "" "0000181189" "3" "99" "8" "27634576" "27634576" "dup" "0" "02176" "ESCO2_000001" "g.27634576dup" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27777059dup" "" "pathogenic" "" "0000181190" "3" "99" "8" "27634576" "27634576" "dup" "0" "02176" "ESCO2_000001" "g.27634576dup" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27777059dup" "" "pathogenic" "" "0000181191" "3" "99" "8" "27634576" "27634576" "dup" "0" "02176" "ESCO2_000001" "g.27634576dup" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27777059dup" "" "pathogenic" "" "0000181192" "0" "99" "8" "27634585" "27634585" "del" "0" "02176" "ESCO2_000012" "g.27634585del" "" "{PMID:Schule 2005:16380922}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.27777068del" "" "pathogenic" "" "0000181193" "0" "99" "8" "27634585" "27634585" "del" "0" "02176" "ESCO2_000012" "g.27634585del" "" "{PMID:Schule 2005:16380922}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.27777068del" "" "pathogenic" "" "0000181194" "0" "99" "8" "27634585" "27634585" "del" "0" "02176" "ESCO2_000012" "g.27634585del" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID:G208" "Germline" "" "" "0" "" "" "g.27777068del" "" "pathogenic" "" "0000181195" "0" "99" "8" "27634585" "27634585" "dup" "0" "02176" "ESCO2_000009" "g.27634585dup" "" "{PMID:Schule 2005:16380922}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.27777068dup" "" "pathogenic" "" "0000181196" "3" "99" "8" "27634585" "27634585" "dup" "0" "02176" "ESCO2_000009" "g.27634585dup" "" "{PMID:Gordillo 2008:18411254}" "" "" "ID#3275" "Germline" "" "" "0" "" "" "g.27777068dup" "" "pathogenic" "" "0000181197" "0" "99" "8" "27634585" "27634585" "dup" "0" "02176" "ESCO2_000009" "g.27634585dup" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID# 3349" "Germline" "" "" "0" "" "" "g.27777068dup" "" "pathogenic" "" "0000181198" "0" "55" "8" "27634585" "27634585" "dup" "0" "02176" "ESCO2_000009" "g.27634585dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27777068dup" "" "VUS" "" "0000181199" "3" "99" "8" "27634589" "27634590" "del" "0" "02176" "ESCO2_000018" "g.27634589_27634590del" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27777072_27777073del" "" "pathogenic" "" "0000181200" "3" "99" "8" "27637705" "27637708" "del" "0" "02176" "ESCO2_000019" "g.27637705_27637708del" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27780188_27780191del" "" "pathogenic" "" "0000181201" "0" "55" "8" "27637705" "27637708" "del" "0" "02176" "ESCO2_000019" "g.27637705_27637708del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27780188_27780191del" "" "VUS" "" "0000181202" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181203" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181204" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181205" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181206" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181207" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181208" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181209" "3" "99" "8" "27637708" "27637709" "del" "0" "02176" "ESCO2_000007" "g.27637708_27637709del" "" "{PMID:Schulz 2008:18186147}" "" "" "" "Germline" "" "" "0" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000181210" "3" "99" "8" "27637786" "27637789" "del" "0" "02176" "ESCO2_000037" "g.27637786_27637789del" "" "{PMID:Gordillo 2008:18411254}" "" "955+2_+5delTAAG" "" "Germline" "" "" "0" "" "" "g.27780269_27780272del" "" "pathogenic" "" "0000181211" "0" "55" "8" "27637786" "27637789" "del" "0" "02176" "ESCO2_000037" "g.27637786_27637789del" "" "" "" "955+2_+5delTAAG" "" "Germline" "" "" "0" "" "" "g.27780269_27780272del" "" "VUS" "" "0000181212" "21" "57" "8" "27641575" "27641575" "del" "0" "02176" "ESCO2_000038" "g.27641575del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27784058del" "" "VUS" "" "0000181213" "3" "99" "8" "27645499" "27645499" "dup" "0" "02176" "ESCO2_000006" "g.27645499dup" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27787982dup" "" "pathogenic" "" "0000181214" "0" "99" "8" "27645499" "27645500" "ins" "0" "02176" "ESCO2_000020" "g.27645499_27645500insG" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID#3325" "Germline" "" "" "0" "" "" "g.27787982_27787983insG" "" "pathogenic" "" "0000181215" "3" "99" "8" "27645520" "27645520" "subst" "8.14166E-6" "02176" "ESCO2_000013" "g.27645520G>A" "" "{PMID:Schule 2005:16380922}" "" "" "" "Germline" "" "" "0" "" "" "g.27788003G>A" "" "pathogenic" "" "0000181216" "3" "99" "8" "27645520" "27645520" "subst" "8.14166E-6" "02176" "ESCO2_000013" "g.27645520G>A" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27788003G>A" "" "pathogenic" "" "0000181217" "21" "99" "8" "27645520" "27645520" "subst" "8.14166E-6" "02176" "ESCO2_000013" "g.27645520G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27788003G>A" "" "pathogenic" "" "0000181218" "0" "99" "8" "27646357" "27646357" "subst" "2.03085E-5" "02176" "ESCO2_000015" "g.27646357A>G" "" "{PMID:Schule 2005:16380922}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.27788840A>G" "" "pathogenic" "" "0000181219" "0" "99" "8" "27646357" "27646357" "subst" "2.03085E-5" "02176" "ESCO2_000015" "g.27646357A>G" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID#G197" "Germline" "" "" "0" "" "" "g.27788840A>G" "" "pathogenic" "" "0000181220" "0" "99" "8" "27646357" "27646357" "subst" "2.03085E-5" "02176" "ESCO2_000015" "g.27646357A>G" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID# 3349" "Germline" "" "" "0" "" "" "g.27788840A>G" "" "pathogenic" "" "0000181221" "0" "99" "8" "27646496" "27646496" "subst" "0" "02176" "ESCO2_000021" "g.27646496G>C" "" "{PMID:Gordillo 2008:18411254}" "" "" "compound heterozygous, ID#3325" "Germline" "" "" "0" "" "" "g.27788979G>C" "" "pathogenic" "" "0000181222" "0" "99" "8" "27649485" "27649485" "subst" "0" "02176" "ESCO2_000010" "g.27649485G>A" "" "{PMID:Schule 2005:16380922}" "" "" "compound heterozygous" "Germline" "" "" "0" "" "" "g.27791968G>A" "" "pathogenic" "" "0000181223" "3" "99" "8" "27650167" "27650167" "subst" "8.19343E-6" "02176" "ESCO2_000022" "g.27650167G>A" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27792650G>A" "" "pathogenic" "" "0000181224" "3" "99" "8" "27650292" "27650293" "del" "0" "02176" "ESCO2_000005" "g.27650292_27650293del" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27792775_27792776del" "" "pathogenic" "" "0000181225" "3" "99" "8" "27657157" "27657157" "dup" "0" "02176" "ESCO2_000023" "g.27657157dup" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27799640dup" "" "pathogenic" "" "0000181226" "3" "99" "8" "27657175" "27657175" "subst" "0" "02176" "ESCO2_000003" "g.27657175T>G" "" "{PMID:Vega 2005:15821733}" "" "" "" "Germline" "" "" "0" "" "" "g.27799658T>G" "" "pathogenic" "" "0000181227" "3" "99" "8" "27660821" "27660821" "subst" "4.06217E-6" "02176" "ESCO2_000024" "g.27660821A>G" "" "{PMID:Gordillo 2008:18411254}" "" "" "" "Germline" "" "" "0" "" "" "g.27803304A>G" "" "pathogenic" "" "0000222093" "21" "70" "8" "27634256" "27634256" "dup" "0" "01396" "ESCO2_000039" "g.27634256dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.27776739dup" "" "likely pathogenic" "" "0000222094" "10" "70" "8" "27645520" "27645520" "subst" "8.14166E-6" "01396" "ESCO2_000013" "g.27645520G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.27788003G>A" "" "likely pathogenic" "" "0000249757" "0" "50" "8" "27634487" "27634487" "subst" "8.96678E-5" "02325" "ESCO2_000044" "g.27634487A>T" "" "" "" "ESCO2(NM_001017420.3):c.662A>T (p.K221I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27776970A>T" "" "VUS" "" "0000252617" "0" "90" "8" "27646357" "27646357" "subst" "2.03085E-5" "02326" "ESCO2_000015" "g.27646357A>G" "" "" "" "ESCO2(NM_001017420.2):c.1132-7A>G, ESCO2(NM_001017420.3):c.1132-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27788840A>G" "" "pathogenic" "" "0000267894" "0" "50" "8" "27634402" "27634402" "subst" "0.000731196" "02325" "ESCO2_000043" "g.27634402C>T" "" "" "" "ESCO2(NM_001017420.2):c.577C>T (p.(Arg193Trp)), ESCO2(NM_001017420.3):c.577C>T (p.R193W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27776885C>T" "" "VUS" "" "0000276403" "0" "30" "8" "27634207" "27634207" "subst" "0.000516895" "01943" "ESCO2_000041" "g.27634207G>A" "" "" "" "ESCO2(NM_001017420.2):c.382G>A (p.G128R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27776690G>A" "" "likely benign" "" "0000332075" "0" "50" "8" "27634394" "27634394" "subst" "4.46835E-5" "01804" "ESCO2_000042" "g.27634394A>G" "" "" "" "ESCO2(NM_001017420.2):c.569A>G (p.N190S, p.(Asn190Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27776877A>G" "" "VUS" "" "0000332077" "0" "30" "8" "27645419" "27645419" "subst" "0.000479956" "01804" "ESCO2_000046" "g.27645419A>C" "" "" "" "ESCO2(NM_001017420.2):c.1031A>C (p.Q344P, p.(Gln344Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27787902A>C" "" "likely benign" "" "0000332078" "0" "30" "8" "27657082" "27657082" "subst" "0.00549062" "01804" "ESCO2_000047" "g.27657082A>G" "" "" "" "ESCO2(NM_001017420.2):c.1522A>G (p.(Ile508Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27799565A>G" "" "likely benign" "" "0000337650" "0" "10" "8" "27632143" "27632143" "subst" "0" "02327" "ESCO2_000048" "g.27632143C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27774626C>T" "" "benign" "" "0000351086" "0" "90" "8" "27646357" "27646357" "subst" "2.03085E-5" "02327" "ESCO2_000015" "g.27646357A>G" "" "" "" "ESCO2(NM_001017420.2):c.1132-7A>G, ESCO2(NM_001017420.3):c.1132-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.27788840A>G" "" "pathogenic" "" "0000408195" "3" "70" "8" "27634242" "27634242" "del" "0" "00571" "ESCO2_000049" "g.27634242del" "" "" "" "417delA" "" "Germline" "yes" "" "0" "" "" "g.27776725del" "" "likely pathogenic" "" "0000534643" "0" "90" "8" "27637708" "27637709" "del" "0" "02325" "ESCO2_000050" "g.27637708_27637709del" "" "" "" "ESCO2(NM_001017420.2):c.879_880delAG (p.R293Sfs*7), ESCO2(NM_001017420.3):c.879_880delAG (p.R293Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27780191_27780192del" "" "pathogenic" "" "0000534644" "0" "30" "8" "27637758" "27637758" "subst" "0.00056145" "01804" "ESCO2_000051" "g.27637758A>T" "" "" "" "ESCO2(NM_001017420.2):c.929A>T (p.(Glu310Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27780241A>T" "" "likely benign" "" "0000534645" "0" "30" "8" "27645493" "27645493" "subst" "0.000313191" "01804" "ESCO2_000052" "g.27645493A>G" "" "" "" "ESCO2(NM_001017420.2):c.1105A>G (p.(Lys369Glu)), ESCO2(NM_001017420.3):c.1105A>G (p.K369E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27787976A>G" "" "likely benign" "" "0000611599" "0" "70" "8" "27637708" "27637709" "del" "0" "01943" "ESCO2_000050" "g.27637708_27637709del" "" "" "" "ESCO2(NM_001017420.2):c.879_880delAG (p.R293Sfs*7), ESCO2(NM_001017420.3):c.879_880delAG (p.R293Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27780191_27780192del" "" "likely pathogenic" "" "0000611600" "0" "30" "8" "27660819" "27660820" "del" "0" "01804" "ESCO2_000057" "g.27660819_27660820del" "" "" "" "ESCO2(NM_001017420.2):c.1674-6_1674-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27803302_27803303del" "" "likely benign" "" "0000622057" "0" "30" "8" "27633049" "27633049" "subst" "1.2184E-5" "01943" "CCDC25_000002" "g.27633049A>G" "" "" "" "ESCO2(NM_001017420.2):c.18A>G (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27775532A>G" "" "likely benign" "" "0000622058" "0" "50" "8" "27641538" "27641538" "subst" "1.21893E-5" "01943" "ESCO2_000055" "g.27641538A>G" "" "" "" "ESCO2(NM_001017420.2):c.977A>G (p.Y326C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27784021A>G" "" "VUS" "" "0000622059" "0" "30" "8" "27641581" "27641581" "subst" "0.000910628" "01943" "ESCO2_000056" "g.27641581A>G" "" "" "" "ESCO2(NM_001017420.2):c.1013+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.27784064A>G" "" "likely benign" "" "0000631945" "3" "90" "8" "27634282" "27634282" "del" "0" "01807" "ESCO2_000058" "g.27634282del" "" "" "" "457delA" "" "Unknown" "" "" "0" "" "" "g.27776765del" "" "pathogenic" "" "0000652481" "1" "50" "8" "27634402" "27634402" "subst" "0.000731196" "03575" "ESCO2_000043" "g.27634402C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143539004}" "Germline" "" "rs143539004" "0" "" "" "g.27776885C>T" "" "VUS" "" "0000652482" "1" "10" "8" "27645482" "27645482" "subst" "0.00245602" "03575" "ESCO2_000059" "g.27645482G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs144288263}" "Germline" "" "rs144288263" "0" "" "" "g.27787965G>A" "" "benign" "" "0000678373" "0" "30" "8" "27641565" "27641565" "subst" "4.87646E-5" "01804" "ESCO2_000060" "g.27641565A>G" "" "" "" "ESCO2(NM_001017420.2):c.1004A>G (p.(Asn335Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690246" "0" "30" "8" "27634348" "27634348" "subst" "3.25016E-5" "01804" "CCDC25_000003" "g.27634348A>G" "" "" "" "ESCO2(NM_001017420.2):c.523A>G (p.(Ile175Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690247" "0" "50" "8" "27645482" "27645482" "subst" "0.00245602" "01943" "ESCO2_000059" "g.27645482G>A" "" "" "" "ESCO2(NM_001017420.2):c.1094G>A (p.R365K, p.(Arg365Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721952" "0" "30" "8" "27634593" "27634593" "subst" "1.26799E-5" "01943" "CCDC25_000004" "g.27634593G>T" "" "" "" "ESCO2(NM_001017420.2):c.768G>T (p.A256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803617" "0" "50" "8" "27645493" "27645493" "subst" "0.000313191" "02325" "ESCO2_000052" "g.27645493A>G" "" "" "" "ESCO2(NM_001017420.2):c.1105A>G (p.(Lys369Glu)), ESCO2(NM_001017420.3):c.1105A>G (p.K369E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851901" "0" "30" "8" "27634394" "27634394" "subst" "4.46835E-5" "01943" "ESCO2_000042" "g.27634394A>G" "" "" "" "ESCO2(NM_001017420.2):c.569A>G (p.N190S, p.(Asn190Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851902" "0" "30" "8" "27645419" "27645419" "subst" "0.000479956" "01943" "ESCO2_000046" "g.27645419A>C" "" "" "" "ESCO2(NM_001017420.2):c.1031A>C (p.Q344P, p.(Gln344Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861191" "0" "30" "8" "27645464" "27645464" "subst" "0.00125226" "01804" "ESCO2_000061" "g.27645464A>C" "" "" "" "ESCO2(NM_001017420.2):c.1076A>C (p.(Gln359Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861192" "0" "30" "8" "27645516" "27645516" "subst" "0.000174992" "01804" "ESCO2_000062" "g.27645516C>G" "" "" "" "ESCO2(NM_001017420.2):c.1128C>G (p.(Ile376Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861193" "0" "90" "8" "27646357" "27646357" "subst" "2.03085E-5" "01943" "ESCO2_000015" "g.27646357A>G" "" "" "" "ESCO2(NM_001017420.2):c.1132-7A>G, ESCO2(NM_001017420.3):c.1132-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888321" "0" "30" "8" "27634268" "27634268" "subst" "4.06788E-6" "01804" "CCDC25_000005" "g.27634268A>G" "" "" "" "ESCO2(NM_001017420.2):c.443A>G (p.(Tyr148Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912944" "0" "50" "8" "27634402" "27634402" "subst" "0.000731196" "01804" "ESCO2_000043" "g.27634402C>T" "" "" "" "ESCO2(NM_001017420.2):c.577C>T (p.(Arg193Trp)), ESCO2(NM_001017420.3):c.577C>T (p.R193W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912945" "0" "50" "8" "27634493" "27634493" "subst" "0" "01804" "CCDC25_000006" "g.27634493C>G" "" "" "" "ESCO2(NM_001017420.2):c.668C>G (p.(Ser223Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912946" "0" "30" "8" "27645482" "27645482" "subst" "0.00245602" "01804" "ESCO2_000059" "g.27645482G>A" "" "" "" "ESCO2(NM_001017420.2):c.1094G>A (p.R365K, p.(Arg365Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924866" "0" "30" "8" "27637760" "27637760" "subst" "3.25489E-5" "01804" "ESCO2_000063" "g.27637760G>A" "" "" "" "ESCO2(NM_001017420.2):c.931G>A (p.(Asp311Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949065" "0" "10" "8" "27631990" "27631990" "subst" "0" "02327" "CCDC25_000007" "g.27631990G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949066" "0" "30" "8" "27634627" "27634627" "subst" "0" "02327" "CCDC25_000008" "g.27634627G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978177" "0" "50" "8" "27646364" "27646364" "subst" "0" "01804" "ESCO2_000064" "g.27646364G>A" "" "" "" "ESCO2(NM_001017420.3):c.1132G>A (p.(Asp378Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036923" "0" "30" "8" "27633869" "27633870" "del" "0" "01804" "CCDC25_000009" "g.27633869_27633870del" "" "" "" "ESCO2(NM_001017420.3):c.54-10_54-9del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036924" "0" "70" "8" "27650269" "27650273" "del" "0" "01804" "ESCO2_000065" "g.27650269_27650273del" "" "" "" "ESCO2(NM_001017420.3):c.1438_1442del (p.(Leu480Tyrfs*3))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036925" "0" "50" "8" "27660885" "27660885" "subst" "0" "01804" "ESCO2_000066" "g.27660885C>A" "" "" "" "ESCO2(NM_001017420.3):c.1736C>A (p.(Pro579Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059704" "3" "70" "8" "27657234" "27657234" "subst" "0" "00006" "ESCO2_000067" "g.27657234G>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.27799717G>A" "SCV002054016.1" "likely pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ESCO2 ## Count = 95 "{{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}}" "0000181178" "00007242" "99" "252" "0" "253" "0" "c.252_253del" "r.(?)" "p.(Ser85PhefsTer6)" "3" "0000181179" "00007242" "99" "294" "0" "297" "0" "c.294_297del" "r.(?)" "p.(Arg99SerfsTer2)" "3" "0000181180" "00007242" "99" "307" "0" "311" "0" "c.307_311delAGAAA" "r.(?)" "p.(I102fs*1)" "3" "0000181181" "00007242" "99" "308" "0" "309" "0" "c.308_309del" "r.(?)" "p.(Lys103ArgfsTer3)" "3" "0000181182" "00007242" "99" "417" "0" "417" "0" "c.417dup" "r.(?)" "p.(Pro140ThrfsTer8)" "3" "0000181183" "00007242" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(R169*)" "3" "0000181184" "00007242" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(R169*)" "3" "0000181185" "00007242" "99" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(R169*)" "3" "0000181186" "00007242" "99" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(Q202*)" "3" "0000181187" "00007242" "99" "745" "0" "746" "0" "c.745_746del" "r.(?)" "p.(Val249GlnfsTer2)" "3" "0000181188" "00007242" "99" "751" "0" "751" "0" "c.751dup" "r.(?)" "p.(Glu251GlyfsTer30)" "3" "0000181189" "00007242" "99" "751" "0" "751" "0" "c.751dup" "r.(?)" "p.(Glu251GlyfsTer30)" "3" "0000181190" "00007242" "99" "751" "0" "751" "0" "c.751dup" "r.(?)" "p.(Glu251GlyfsTer30)" "3" "0000181191" "00007242" "99" "751" "0" "751" "0" "c.751dup" "r.(?)" "p.(Glu251GlyfsTer30)" "3" "0000181192" "00007242" "99" "760" "0" "760" "0" "c.760del" "r.(?)" "p.(Thr254LeufsTer13)" "3" "0000181193" "00007242" "99" "760" "0" "760" "0" "c.760del" "r.(?)" "p.(Thr254LeufsTer13)" "3" "0000181194" "00007242" "99" "760" "0" "760" "0" "c.760del" "r.(?)" "p.(Thr254LeufsTer13)" "3" "0000181195" "00007242" "99" "760" "0" "760" "0" "c.760dup" "r.(?)" "p.(Thr254AsnfsTer27)" "3" "0000181196" "00007242" "99" "760" "0" "760" "0" "c.760dup" "r.(?)" "p.(Thr254AsnfsTer27)" "3" "0000181197" "00007242" "99" "760" "0" "760" "0" "c.760dup" "r.(?)" "p.(Thr254AsnfsTer27)" "3" "0000181198" "00007242" "55" "760" "0" "760" "0" "c.760dup" "r.(?)" "p.(Thr254AsnfsTer27)" "3" "0000181199" "00007242" "99" "764" "0" "765" "0" "c.764_765del" "r.(?)" "p.(Phe255CysfsTer25)" "3" "0000181200" "00007242" "99" "876" "0" "879" "0" "c.876_879del" "r.(?)" "p.(Asp292GlufsTer48)" "4" "0000181201" "00007242" "55" "876" "0" "879" "0" "c.876_879del" "r.(?)" "p.(Asp292GlufsTer48)" "4" "0000181202" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181203" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181204" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181205" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181206" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181207" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181208" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181209" "00007242" "99" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "4" "0000181210" "00007242" "99" "955" "2" "955" "5" "c.955+2_955+5del" "r.spl" "p.?" "4i" "0000181211" "00007242" "55" "955" "2" "955" "5" "c.955+2_955+5del" "r.spl" "p.?" "4i" "0000181212" "00007242" "57" "1013" "1" "1013" "1" "c.1013+1del" "r.(?)" "p.(Arg338AsnfsTer3)" "5i" "0000181213" "00007242" "99" "1111" "0" "1111" "0" "c.1111dup" "r.(?)" "p.(Thr371AsnfsTer32)" "6" "0000181214" "00007242" "99" "1111" "0" "1112" "0" "c.1111_1112insG" "r.(?)" "p.(T371fs*32)" "6" "0000181215" "00007242" "99" "1131" "1" "1131" "1" "c.1131+1G>A" "r.1014_1131del" "p.R338fs*17" "6i" "0000181216" "00007242" "99" "1131" "1" "1131" "1" "c.1131+1G>A" "r.1014_1131del" "p.R338fs*17" "6i" "0000181217" "00007242" "99" "1131" "1" "1131" "1" "c.1131+1G>A" "r.1014_1131del" "p.R338fs*17" "6i" "0000181218" "00007242" "99" "1132" "-7" "1132" "-7" "c.1132-7A>G" "r.1131_1132insTTATAG" "p.I377_378insL*" "6i" "0000181219" "00007242" "99" "1132" "-7" "1132" "-7" "c.1132-7A>G" "r.1131_1132insTTATAG" "p.I377_378insL*" "6i" "0000181220" "00007242" "99" "1132" "-7" "1132" "-7" "c.1132-7A>G" "r.1131_1132insTTATAG" "p.I377_378insL*" "6i" "0000181221" "00007242" "99" "1263" "1" "1263" "1" "c.1263+1G>C" "r.(?)" "p.?" "7i" "0000181222" "00007242" "99" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(W423*)" "8" "0000181223" "00007242" "99" "1354" "-18" "1354" "-18" "c.1354-18G>A" "r.(?)" "p.(V452_Q499del)" "8i" "0000181224" "00007242" "99" "1461" "0" "1462" "0" "c.1461_1462del" "r.(?)" "p.(Arg487SerfsTer19)" "9" "0000181225" "00007242" "99" "1597" "0" "1597" "0" "c.1597dup" "r.(?)" "p.(Cys533LeufsTer5)" "10" "0000181226" "00007242" "99" "1615" "0" "1615" "0" "c.1615T>G" "r.(?)" "p.(W539G)" "10" "0000181227" "00007242" "99" "1674" "-2" "1674" "-2" "c.1674-2A>G" "r.(?)" "p.?" "10i" "0000222093" "00007242" "70" "431" "0" "431" "0" "c.431dup" "r.(?)" "p.(Leu144Phefs*4)" "3" "0000222094" "00007242" "70" "1131" "1" "1131" "1" "c.1131+1G>A" "r.spl?" "p.?" "6" "0000249757" "00007242" "50" "662" "0" "662" "0" "c.662A>T" "r.(?)" "p.(Lys221Ile)" "" "0000252617" "00007242" "90" "1132" "-7" "1132" "-7" "c.1132-7A>G" "r.(=)" "p.(=)" "" "0000267894" "00007242" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Trp)" "" "0000276403" "00007242" "30" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Gly128Arg)" "" "0000332075" "00007242" "50" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.(Asn190Ser)" "" "0000332077" "00007242" "30" "1031" "0" "1031" "0" "c.1031A>C" "r.(?)" "p.(Gln344Pro)" "" "0000332078" "00007242" "30" "1522" "0" "1522" "0" "c.1522A>G" "r.(?)" "p.(Ile508Val)" "" "0000337650" "00007242" "10" "-17" "19" "-17" "19" "c.-17+19C>T" "r.(=)" "p.(=)" "" "0000351086" "00007242" "90" "1132" "-7" "1132" "-7" "c.1132-7A>G" "r.(=)" "p.(=)" "" "0000408195" "00007242" "70" "417" "0" "417" "0" "c.417del" "r.(417del)" "p.(Lys139Asnfs*6)" "3" "0000534643" "00007242" "90" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "" "0000534644" "00007242" "30" "929" "0" "929" "0" "c.929A>T" "r.(?)" "p.(Glu310Val)" "" "0000534645" "00007242" "30" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Lys369Glu)" "" "0000611599" "00007242" "70" "879" "0" "880" "0" "c.879_880del" "r.(?)" "p.(Arg293SerfsTer7)" "" "0000611600" "00007242" "30" "1674" "-4" "1674" "-3" "c.1674-4_1674-3del" "r.spl?" "p.?" "" "0000622057" "00007242" "30" "18" "0" "18" "0" "c.18A>G" "r.(?)" "p.(Pro6=)" "" "0000622058" "00007242" "50" "977" "0" "977" "0" "c.977A>G" "r.(?)" "p.(Tyr326Cys)" "" "0000622059" "00007242" "30" "1013" "7" "1013" "7" "c.1013+7A>G" "r.(=)" "p.(=)" "" "0000631945" "00007242" "90" "457" "0" "457" "0" "c.457del" "r.(?)" "p.(Arg153Aspfs*18)" "" "0000652481" "00007242" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Trp)" "" "0000652482" "00007242" "10" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Lys)" "" "0000678373" "00007242" "30" "1004" "0" "1004" "0" "c.1004A>G" "r.(?)" "p.(Asn335Ser)" "" "0000690246" "00007242" "30" "523" "0" "523" "0" "c.523A>G" "r.(?)" "p.(Ile175Val)" "" "0000690247" "00007242" "50" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Lys)" "" "0000721952" "00007242" "30" "768" "0" "768" "0" "c.768G>T" "r.(?)" "p.(Ala256=)" "" "0000803617" "00007242" "50" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Lys369Glu)" "" "0000851901" "00007242" "30" "569" "0" "569" "0" "c.569A>G" "r.(?)" "p.(Asn190Ser)" "" "0000851902" "00007242" "30" "1031" "0" "1031" "0" "c.1031A>C" "r.(?)" "p.(Gln344Pro)" "" "0000861191" "00007242" "30" "1076" "0" "1076" "0" "c.1076A>C" "r.(?)" "p.(Gln359Pro)" "" "0000861192" "00007242" "30" "1128" "0" "1128" "0" "c.1128C>G" "r.(?)" "p.(Ile376Met)" "" "0000861193" "00007242" "90" "1132" "-7" "1132" "-7" "c.1132-7A>G" "r.(=)" "p.(=)" "" "0000888321" "00007242" "30" "443" "0" "443" "0" "c.443A>G" "r.(?)" "p.(Tyr148Cys)" "" "0000912944" "00007242" "50" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Trp)" "" "0000912945" "00007242" "50" "668" "0" "668" "0" "c.668C>G" "r.(?)" "p.(Ser223Cys)" "" "0000912946" "00007242" "30" "1094" "0" "1094" "0" "c.1094G>A" "r.(?)" "p.(Arg365Lys)" "" "0000924866" "00007242" "30" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Asp311Asn)" "" "0000949065" "00007242" "10" "-151" "0" "-151" "0" "c.-151G>A" "r.(?)" "p.(=)" "" "0000949066" "00007242" "30" "802" "0" "802" "0" "c.802G>A" "r.(?)" "p.(Glu268Lys)" "" "0000978177" "00007242" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Asp378Asn)" "" "0001036923" "00007242" "30" "54" "-10" "54" "-9" "c.54-10_54-9del" "r.(=)" "p.(=)" "" "0001036924" "00007242" "70" "1438" "0" "1442" "0" "c.1438_1442del" "r.(?)" "p.(Leu480Tyrfs*3)" "" "0001036925" "00007242" "50" "1736" "0" "1736" "0" "c.1736C>A" "r.(?)" "p.(Pro579Gln)" "" "0001059704" "00007242" "70" "1673" "1" "1673" "1" "c.1673+1G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{variantid}}" "0000112618" "0000181178" "0000112619" "0000181179" "0000112619" "0000181219" "0000112620" "0000181180" "0000112621" "0000181181" "0000112621" "0000181194" "0000112622" "0000181182" "0000112623" "0000181183" "0000112624" "0000181184" "0000112625" "0000181185" "0000112626" "0000181186" "0000112626" "0000181192" "0000112627" "0000181187" "0000112628" "0000181188" "0000112629" "0000181189" "0000112630" "0000181190" "0000112631" "0000181191" "0000112632" "0000181193" "0000112632" "0000181218" "0000112633" "0000181195" "0000112633" "0000181222" "0000112634" "0000181196" "0000112635" "0000181197" "0000112635" "0000181220" "0000112636" "0000181198" "0000112637" "0000181199" "0000112638" "0000181200" "0000112639" "0000181201" "0000112640" "0000181202" "0000112641" "0000181203" "0000112642" "0000181204" "0000112643" "0000181205" "0000112644" "0000181206" "0000112645" "0000181207" "0000112646" "0000181208" "0000112647" "0000181209" "0000112648" "0000181210" "0000112649" "0000181211" "0000112650" "0000181212" "0000112650" "0000181217" "0000112651" "0000181213" "0000112652" "0000181214" "0000112652" "0000181221" "0000112653" "0000181215" "0000112654" "0000181216" "0000112655" "0000181223" "0000112656" "0000181224" "0000112657" "0000181225" "0000112658" "0000181226" "0000112659" "0000181227" "0000132911" "0000222093" "0000132911" "0000222094" "0000184196" "0000408195" "0000277201" "0000631945" "0000295792" "0000652481" "0000295793" "0000652482" "0000471556" "0001059704"