### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EIF2S3) # 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}}" "EIF2S3" "eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa" "X" "p22.2-p22.1" "unknown" "NG_016387.1" "UD_132085446471" "" "http://www.LOVD.nl/EIF2S3" "" "1" "3267" "1968" "300161" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/EIF2S3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2016-10-06 23:31:00" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000764" "EIF2S3" "eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa" "001" "NM_001415.3" "" "NP_001406.1" "" "" "" "-21" "3444" "1419" "24073065" "24096927" "00000" "2012-09-13 12:51:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05189" "MEHMO;MRXS20;MRXS25" "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity (MEHMO)" "XLR" "300148" "" "" "" "00006" "2016-10-06 23:42:30" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EIF2S3" "05189" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00081327" "" "" "" "1" "" "01454" "" "" "M" "no" "Slovakia (Slovak Republic)" ">05y" "0" "" "" "white" "" "00081328" "" "" "" "1" "" "01454" "" "" "M" "no" "Germany" "04y" "0" "" "" "white" "" "00081329" "" "" "" "1" "" "01454" "" "" "M" "no" "Slovakia (Slovak Republic)" ">01y06m" "0" "" "" "white" "" "00081330" "" "" "" "1" "" "01454" "" "" "M" "no" "United States" ">05y" "0" "" "" "white" "" "00172397" "" "" "" "8" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172398" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172399" "" "" "" "120" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00295582" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00081327" "05189" "00081328" "05189" "00081329" "05189" "00081330" "05189" "00172397" "00187" "00172398" "00187" "00172399" "00187" "00295582" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 00198, 01157, 05189 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000060895" "05189" "00081330" "01454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060896" "05189" "00081327" "01454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060897" "05189" "00081328" "01454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060898" "05189" "00081329" "01454" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000137261" "00187" "00172397" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137262" "00187" "00172398" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000137263" "00187" "00172399" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000223147" "00198" "00295582" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Microcephaly (HP:0000252); Abnormality of the skull (HP:0000929)" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000081440" "00081327" "1" "01454" "01454" "2016-10-06 11:34:45" "" "" "SEQ" "DNA" "blood" "" "0000081441" "00081328" "1" "01454" "01454" "2016-10-06 12:32:00" "" "" "SEQ" "DNA" "blood" "" "0000081442" "00081329" "1" "01454" "01454" "2016-10-06 12:41:28" "" "" "SEQ" "DNA" "blood" "" "0000081443" "00081330" "1" "01454" "01454" "2016-10-06 12:46:57" "" "" "SEQ" "DNA" "blood" "" "0000173280" "00172397" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173281" "00172398" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173282" "00172399" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000296752" "00295582" "1" "01164" "01164" "2020-03-18 10:49:00" "" "" "SEQ-NG-S" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000081440" "EIF2S3" "0000081441" "EIF2S3" "0000081442" "EIF2S3" "0000081443" "EIF2S3" "0000173280" "EIF2S3" "0000173281" "EIF2S3" "0000173282" "EIF2S3" ## 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 = 37 "{{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}}" "0000001835" "0" "30" "X" "24084253" "24084253" "dup" "0" "00037" "EIF2S3_000007" "g.24084253dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24066136dup" "" "likely benign" "" "0000001836" "0" "50" "X" "24084252" "24084253" "dup" "0" "00037" "EIF2S3_000004" "g.24084252_24084253dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24066135_24066136dup" "" "VUS" "" "0000002849" "0" "50" "X" "24084253" "24084253" "dup" "0" "00037" "EIF2S3_000016" "g.24084253dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24066136dup" "" "VUS" "" "0000006500" "20" "30" "X" "24073761" "24073761" "subst" "0.566426" "00037" "EIF2S3_000003" "g.24073761C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24055644C>T" "" "likely benign" "" "0000006501" "20" "50" "X" "24073974" "24073974" "subst" "0" "00037" "EIF2S3_000013" "g.24073974A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24055857A>G" "" "VUS" "" "0000006502" "20" "30" "X" "24080269" "24080269" "subst" "0" "00037" "EIF2S3_000005" "g.24080269G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24062152G>C" "" "likely benign" "" "0000006503" "20" "50" "X" "24090022" "24090022" "subst" "0" "00037" "EIF2S3_000006" "g.24090022T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24071905T>C" "" "VUS" "" "0000008553" "20" "30" "X" "24073761" "24073761" "subst" "0.566426" "00037" "EIF2S3_000003" "g.24073761C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24055644C>T" "" "likely benign" "" "0000008554" "20" "50" "X" "24073974" "24073974" "subst" "0" "00037" "EIF2S3_000013" "g.24073974A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24055857A>G" "" "VUS" "" "0000008555" "0" "30" "X" "24084253" "24084253" "dup" "0" "00037" "EIF2S3_000007" "g.24084253dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24066136dup" "" "likely benign" "" "0000008556" "0" "50" "X" "24084252" "24084253" "dup" "0" "00037" "EIF2S3_000004" "g.24084252_24084253dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24066135_24066136dup" "" "VUS" "" "0000008557" "20" "50" "X" "24090022" "24090022" "subst" "0" "00037" "EIF2S3_000006" "g.24090022T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24071905T>C" "" "VUS" "" "0000010848" "0" "50" "X" "24084253" "24084253" "dup" "0" "00037" "EIF2S3_000016" "g.24084253dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24066136dup" "" "VUS" "" "0000010849" "0" "50" "X" "24084252" "24084253" "dup" "0" "00037" "EIF2S3_000017" "g.24084252_24084253dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24066135_24066136dup" "" "VUS" "" "0000014466" "20" "50" "X" "24090247" "24090247" "subst" "0" "00037" "EIF2S3_000009" "g.24090247T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.24072130T>C" "" "VUS" "" "0000130576" "21" "90" "X" "24094877" "24094880" "del" "0" "01454" "EIF2S3_000018" "g.24094877_24094880del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24076760_24076763del" "" "pathogenic" "" "0000130577" "21" "90" "X" "24094877" "24094880" "del" "0" "01454" "EIF2S3_000018" "g.24094877_24094880del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24076760_24076763del" "" "pathogenic" "" "0000130578" "21" "90" "X" "24094877" "24094880" "del" "0" "01454" "EIF2S3_000018" "g.24094877_24094880del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24076760_24076763del" "" "pathogenic" "" "0000130579" "21" "50" "X" "24075812" "24075812" "subst" "0" "01454" "EIF2S3_000008" "g.24075812T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24057695T>A" "" "VUS" "" "0000255088" "0" "30" "X" "24073785" "24073785" "subst" "0.000503618" "01943" "EIF2S3_000019" "g.24073785A>G" "" "" "" "EIF2S3(NM_001415.3):c.123A>G (p.T41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24055668A>G" "" "likely benign" "" "0000267802" "0" "10" "X" "24073761" "24073761" "subst" "0.566426" "02325" "EIF2S3_000003" "g.24073761C>T" "" "" "" "EIF2S3(NM_001415.4):c.99C>T (p.H33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24055644C>T" "" "benign" "" "0000393137" "1" "50" "X" "24075862" "24075862" "subst" "0.146736" "00124" "EIF2S3_000020" "g.24075862A>G" "8/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 8 times" "Germline" "" "" "0" "" "" "g.24057745A>G" "" "VUS" "" "0000393138" "1" "50" "X" "24078272" "24078272" "subst" "0" "00124" "EIF2S3_000021" "g.24078272G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.24060155G>C" "" "VUS" "" "0000393139" "1" "30" "X" "24073761" "24073761" "subst" "0.566426" "00124" "EIF2S3_000003" "g.24073761C>T" "120/208 cases" "{PMID:Tarpey 2009:19377476}" "" "H33H" "recurrent, found 120 times" "Germline" "" "" "0" "" "" "g.24055644C>T" "" "likely benign" "" "0000575339" "0" "30" "X" "24075878" "24075878" "subst" "0" "01804" "EIF2S3_000022" "g.24075878T>A" "" "" "" "EIF2S3(NM_001415.3):c.383+7T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24057761T>A" "" "likely benign" "" "0000619423" "0" "30" "X" "24075585" "24075585" "subst" "5.73598E-6" "01943" "EIF2S3_000023" "g.24075585A>G" "" "" "" "EIF2S3(NM_001415.3):c.181A>G (p.I61V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24057468A>G" "" "likely benign" "" "0000619424" "0" "50" "X" "24082402" "24082402" "subst" "0" "01943" "EIF2S3_000024" "g.24082402A>C" "" "" "" "EIF2S3(NM_001415.3):c.722A>C (p.K241T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24064285A>C" "" "VUS" "" "0000653458" "0" "50" "X" "24078296" "24078296" "subst" "0" "01164" "EIF2S3_000025" "g.24078296A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.24060179A>T" "" "VUS" "ACMG" "0000810250" "0" "30" "X" "24073113" "24073113" "subst" "0.000118936" "01943" "EIF2S3_000026" "g.24073113C>T" "" "" "" "EIF2S3(NM_001415.3):c.28C>T (p.L10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810251" "0" "30" "X" "24073803" "24073803" "subst" "0.000668494" "01943" "EIF2S3_000027" "g.24073803T>C" "" "" "" "EIF2S3(NM_001415.3):c.133+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856529" "0" "10" "X" "24073761" "24073761" "subst" "0.566426" "02330" "EIF2S3_000003" "g.24073761C>T" "" "" "" "EIF2S3(NM_001415.4):c.99C>T (p.H33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856530" "0" "10" "X" "24075862" "24075862" "subst" "0.146736" "02330" "EIF2S3_000020" "g.24075862A>G" "" "" "" "EIF2S3(NM_001415.4):c.374A>G (p.K125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000867284" "0" "30" "X" "24086125" "24086125" "subst" "0.000136572" "01943" "EIF2S3_000028" "g.24086125T>C" "" "" "" "EIF2S3(NM_001415.3):c.912T>C (p.D304=, p.(Asp304=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867285" "0" "30" "X" "24086125" "24086125" "subst" "0.000136572" "01804" "EIF2S3_000028" "g.24086125T>C" "" "" "" "EIF2S3(NM_001415.3):c.912T>C (p.D304=, p.(Asp304=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896070" "0" "10" "X" "24091291" "24091291" "subst" "0.00502886" "02330" "EIF2S3_000029" "g.24091291C>T" "" "" "" "EIF2S3(NM_001415.4):c.1266C>T (p.A422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044262" "0" "50" "X" "24086094" "24086094" "subst" "0" "01804" "EIF2S3_000030" "g.24086094T>C" "" "" "" "EIF2S3(NM_001415.4):c.881T>C (p.(Ile294Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057285" "0" "50" "X" "24080583" "24080583" "subst" "0" "01804" "EIF2S3_000031" "g.24080583A>G" "" "" "" "EIF2S3(NM_001415.4):c.529A>G (p.(Ile177Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes EIF2S3 ## Count = 37 "{{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}}" "0000001835" "00000764" "30" "867" "44" "867" "44" "c.867+44dup" "r.(?)" "p.(=)" "8i" "0000001836" "00000764" "50" "867" "43" "867" "44" "c.867+43_867+44dup" "r.(=)" "p.(=)" "" "0000002849" "00000764" "50" "867" "44" "867" "44" "c.867+44dup" "r.(=)" "p.(=)" "" "0000006500" "00000764" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(=)" "2" "0000006501" "00000764" "50" "133" "179" "133" "179" "c.133+179A>G" "r.(=)" "p.(=)" "" "0000006502" "00000764" "30" "479" "-264" "479" "-264" "c.479-264G>C" "r.(?)" "p.(=)" "5i" "0000006503" "00000764" "50" "1182" "178" "1182" "178" "c.1182+178T>C" "r.(=)" "p.(=)" "" "0000008553" "00000764" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(=)" "2" "0000008554" "00000764" "50" "133" "179" "133" "179" "c.133+179A>G" "r.(=)" "p.(=)" "" "0000008555" "00000764" "30" "867" "44" "867" "44" "c.867+44dup" "r.(?)" "p.(=)" "8i" "0000008556" "00000764" "50" "867" "43" "867" "44" "c.867+43_867+44dup" "r.(=)" "p.(=)" "" "0000008557" "00000764" "50" "1182" "178" "1182" "178" "c.1182+178T>C" "r.(=)" "p.(=)" "" "0000010848" "00000764" "50" "867" "44" "867" "44" "c.867+44dup" "r.(=)" "p.(=)" "" "0000010849" "00000764" "50" "867" "43" "867" "44" "c.867+43_867+44dup" "r.(=)" "p.(=)" "" "0000014466" "00000764" "50" "1182" "403" "1182" "403" "c.1182+403T>C" "r.(=)" "p.(=)" "" "0000130576" "00000764" "90" "1394" "0" "1397" "0" "c.1394_1397del" "r.(?)" "p.(Ile465Serfs*4)" "12" "0000130577" "00000764" "90" "1394" "0" "1397" "0" "c.1394_1397del" "r.(?)" "p.(Ile465Serfs*4)" "12" "0000130578" "00000764" "90" "1394" "0" "1397" "0" "c.1394_1397del" "r.(?)" "p.(Ile465Serfs*4)" "12" "0000130579" "00000764" "50" "324" "0" "324" "0" "c.324T>A" "r.(?)" "p.(Ser108Arg)" "4" "0000255088" "00000764" "30" "123" "0" "123" "0" "c.123A>G" "r.(?)" "p.(Thr41=)" "" "0000267802" "00000764" "10" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(His33=)" "" "0000393137" "00000764" "50" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Lys125Arg)" "" "0000393138" "00000764" "50" "451" "0" "451" "0" "c.451G>C" "r.(?)" "p.(Val151Leu)" "" "0000393139" "00000764" "30" "99" "0" "99" "0" "c.99C>T" "r.(=)" "p.(=)" "" "0000575339" "00000764" "30" "383" "7" "383" "7" "c.383+7T>A" "r.(=)" "p.(=)" "" "0000619423" "00000764" "30" "181" "0" "181" "0" "c.181A>G" "r.(?)" "p.(Ile61Val)" "" "0000619424" "00000764" "50" "722" "0" "722" "0" "c.722A>C" "r.(?)" "p.(Lys241Thr)" "" "0000653458" "00000764" "50" "475" "0" "475" "0" "c.475A>T" "r.(?)" "p.(Ile159Leu)" "" "0000810250" "00000764" "30" "28" "0" "28" "0" "c.28C>T" "r.(?)" "p.(Leu10=)" "" "0000810251" "00000764" "30" "133" "8" "133" "8" "c.133+8T>C" "r.(=)" "p.(=)" "" "0000856529" "00000764" "10" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(His33=)" "" "0000856530" "00000764" "10" "374" "0" "374" "0" "c.374A>G" "r.(?)" "p.(Lys125Arg)" "" "0000867284" "00000764" "30" "912" "0" "912" "0" "c.912T>C" "r.(?)" "p.(Asp304=)" "" "0000867285" "00000764" "30" "912" "0" "912" "0" "c.912T>C" "r.(?)" "p.(Asp304=)" "" "0000896070" "00000764" "10" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(Ala422=)" "" "0001044262" "00000764" "50" "881" "0" "881" "0" "c.881T>C" "r.(?)" "p.(Ile294Thr)" "" "0001057285" "00000764" "50" "529" "0" "529" "0" "c.529A>G" "r.(?)" "p.(Ile177Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001835" "0000000209" "0000001836" "0000000209" "0000002849" "0000000209" "0000006500" "0000000209" "0000006501" "0000000209" "0000006502" "0000000209" "0000006503" "0000000210" "0000008553" "0000000210" "0000008554" "0000000210" "0000008555" "0000000210" "0000008556" "0000000210" "0000008557" "0000000210" "0000010848" "0000000210" "0000010849" "0000000210" "0000014466" "0000081440" "0000130576" "0000081441" "0000130577" "0000081442" "0000130578" "0000081443" "0000130579" "0000173280" "0000393137" "0000173281" "0000393138" "0000173282" "0000393139" "0000296752" "0000653458"