### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TEX11) # 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}}" "TEX11" "testis expressed 11" "X" "p11" "unknown" "NG_012574.2" "UD_132085298163" "" "http://www.LOVD.nl/TEX11" "" "1" "11733" "56159" "300311" "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/TEX11_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2022-08-19 19:03:54" "00000" "2025-07-08 13:22:38" ## 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}}" "00000460" "TEX11" "transcript variant 1" "002" "NM_001003811.1" "" "NP_001003811.1" "" "" "" "-162" "2978" "2823" "69748790" "70128567" "00000" "2012-09-13 12:18:49" "" "" "00025732" "TEX11" "transcript variant 2" "001" "NM_031276.2" "" "NP_112566.2" "" "" "" "-85" "2933" "2778" "70128567" "69748790" "00006" "2022-08-19 17:39:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01162" "SPGF6" "spermatogenic failure, type 6 (SPGF-6, globozoospermia)" "AR" "102530" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05030" "SPGFX2" "spermatogenic failure, X-linked, type 2" "XLR" "309120" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2022-08-19 18:32:18" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TEX11" "05030" "TEX11" "05562" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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" "" "" "" "" "00058821" "" "" "" "10" "" "01528" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "6-generation family with mutliple affected" "M" "no" "Australia" "" "0" "" "" "" "" "00117907" "" "" "" "8" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377432-Pat?" "00117908" "" "" "" "9" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377433-Pat?" "00117909" "" "" "" "3" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377434-Pat?" "00117910" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377435-Pat?" "00117911" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377436-Pat?" "00117912" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377437-Pat?" "00117913" "" "" "" "1" "" "01285" "" "male infertility" "M" "" "China" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "Han Chinese" "" "00314837" "" "" "" "1" "" "00006" "{PMID:Nakamura 2017:28718531}" "" "" "" "Japan" "" "0" "" "" "" "Pat3" "00415986" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}, {PMID:Riera-Escamilla 2022:35809576}, {DOI:Riera-Escamilla 2022:10.1016/j.ajhg.2022.06.007}" "" "M" "" "" "" "0" "" "" "white;Europe" "Pat1" "00415987" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "M" "" "" "" "0" "" "" "white;Europe" "Pat2" "00415988" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "M" "" "" "" "0" "" "" "white;Europe" "Pat3" "00415989" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "M" "" "Germany" "" "0" "" "" "white" "Pat4" "00415990" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "M" "" "Germany" "" "0" "" "" "Arab" "Pat5" "00415991" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "M" "" "Germany" "" "0" "" "" "white" "Pat6" "00415993" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "controls and patients" "M" "" "Germany" "" "0" "" "" "" "" "00415994" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "controls and patients" "M" "" "Germany" "" "0" "" "" "" "" "00415995" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "controls and patients" "M" "" "Germany" "" "0" "" "" "" "" "00415996" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "controls and patients" "M" "" "Germany" "" "0" "" "" "" "" "00415997" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "controls and patients" "M" "" "Germany" "" "0" "" "" "" "" "00418365" "" "" "" "1" "" "00006" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "M" "" "Germany" "" "0" "" "" "black" "Pat7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00058821" "00187" "00117907" "00187" "00117908" "00187" "00117909" "00187" "00117910" "00187" "00117911" "00187" "00117912" "00187" "00117913" "01162" "00314837" "00201" "00415986" "05562" "00415987" "05562" "00415988" "05562" "00415989" "05562" "00415990" "05562" "00415991" "05562" "00415993" "00000" "00415994" "00000" "00415995" "00000" "00415996" "00000" "00415997" "00000" "00418365" "05562" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00187, 00201, 01157, 01162, 05030, 05562 ## Count = 18 "{{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/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "" "0000046730" "00187" "00058821" "01528" "Familial, X-linked" "" "The individual had non-syndromic X-linked intellectual disability with no observable clinical features noted" "" "" "" "" "" "" "" "" "" "" "0000093288" "00187" "00117907" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000093289" "00187" "00117908" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000093290" "00187" "00117909" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000093291" "00187" "00117910" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000093292" "00187" "00117911" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000093293" "00187" "00117912" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "0000093294" "01162" "00117913" "01285" "Familial, X-linked recessive" "" "non-obstructive azoospermia" "" "" "" "" "" "" "" "" "" "" "0000238595" "00201" "00314837" "00006" "Unknown" "" "see paper; idiopathic non-obstructive azoospermia, ..." "" "" "" "" "" "" "" "" "" "non-obstructive azoospermia" "0000307757" "05562" "00415986" "00006" "Familial, X-linked" "" "azoospermia, meiotic arrest, mixed testicular atrophy" "" "" "" "" "" "" "" "" "SPGFX2" "azoospermia" "0000307758" "05562" "00415987" "00006" "Familial, X-linked" "" "azoospermia, meiotic arrest" "" "" "" "" "" "" "" "" "SPGFX2" "azoospermia" "0000307759" "05562" "00415988" "00006" "Familial, X-linked" "" "azoospermia, meiotic arrest" "" "" "" "" "" "" "" "" "SPGFX2" "azoospermia" "0000307760" "05562" "00415989" "00006" "Familial, X-linked" "" "azoospermia, meiotic arrest" "" "" "" "" "" "" "" "" "SPGFX2" "azoospermia" "0000307761" "05562" "00415990" "00006" "Familial, X-linked" "" "azoospermia, meiotic arrest" "" "" "" "" "" "" "" "" "SPGFX2" "azoospermia" "0000307762" "05562" "00415991" "00006" "Familial, X-linked" "" "azoospermia, meiotic arrest, mixed testicular atrophy" "" "" "" "" "" "" "" "" "SPGFX2" "azoospermia" "0000309733" "05562" "00418365" "00006" "Familial, X-linked" "" "see paper; ..., few sperm" "" "" "" "" "" "" "" "" "SPGFX2" "azoospermia" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{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" "" "" "0000058785" "00058821" "1" "01528" "01528" "2016-02-04 07:45:07" "" "" "SEQ-NG" "DNA" "ThuongHa" "" "0000118370" "00117907" "1" "00124" "00006" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000118371" "00117908" "1" "00124" "00006" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000118372" "00117909" "1" "00124" "00006" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000118373" "00117910" "1" "00124" "00006" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000118374" "00117911" "1" "00124" "00006" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000118375" "00117912" "1" "00124" "00006" "2009-04-08 14:04:23" "" "" "SEQ" "DNA" "" "" "0000118376" "00117913" "1" "01285" "01285" "2016-01-28 02:50:37" "" "" "SEQ" "DNA" "" "" "0000316010" "00314837" "1" "00006" "00006" "2020-10-19 12:03:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000417266" "00415986" "1" "00006" "00006" "2022-08-19 19:06:15" "" "" "SEQ" "DNA" "" "" "0000417267" "00415987" "1" "00006" "00006" "2022-08-19 19:06:15" "" "" "SEQ" "DNA" "" "" "0000417268" "00415988" "1" "00006" "00006" "2022-08-19 19:06:15" "" "" "SEQ" "DNA" "" "" "0000417269" "00415989" "1" "00006" "00006" "2022-08-19 19:06:15" "" "" "SEQ" "DNA" "" "" "0000417270" "00415990" "1" "00006" "00006" "2022-08-19 19:06:15" "" "" "SEQ" "DNA" "" "" "0000417271" "00415991" "1" "00006" "00006" "2022-08-19 19:06:15" "" "" "SEQ" "DNA" "" "" "0000417273" "00415993" "1" "00006" "00006" "2022-08-19 19:18:23" "" "" "SEQ" "DNA" "" "" "0000417274" "00415994" "1" "00006" "00006" "2022-08-19 19:18:23" "" "" "SEQ" "DNA" "" "" "0000417275" "00415995" "1" "00006" "00006" "2022-08-19 19:18:23" "" "" "SEQ" "DNA" "" "" "0000417276" "00415996" "1" "00006" "00006" "2022-08-19 19:18:23" "" "" "SEQ" "DNA" "" "" "0000417277" "00415997" "1" "00006" "00006" "2022-08-19 19:18:23" "" "" "SEQ" "DNA" "" "" "0000419660" "00418365" "1" "00006" "00006" "2022-09-28 21:31:48" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{geneid}}" "0000118370" "TEX11" "0000118371" "TEX11" "0000118372" "TEX11" "0000118373" "TEX11" "0000118374" "TEX11" "0000118375" "TEX11" "0000118376" "TEX11" "0000316010" "MEI1" "0000316010" "TEX11" "0000417266" "TEX11" "0000417267" "TEX11" "0000417268" "TEX11" "0000417269" "TEX11" "0000417270" "TEX11" "0000417271" "TEX11" "0000417273" "TEX11" "0000417274" "TEX11" "0000417275" "TEX11" "0000417276" "TEX11" "0000417277" "TEX11" "0000419660" "TEX11" ## 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 = 63 "{{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}}" "0000003034" "20" "50" "X" "69898742" "69898742" "del" "0" "00037" "TEX11_000031" "g.69898742del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70678892del" "" "VUS" "" "0000007091" "20" "30" "X" "69749139" "69749139" "subst" "0" "00037" "TEX11_000009" "g.69749139G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70529289G>A" "" "likely benign" "" "0000007092" "20" "50" "X" "69750060" "69750060" "subst" "0" "00037" "TEX11_000024" "g.69750060C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70530210C>T" "" "VUS" "" "0000007093" "20" "30" "X" "69774241" "69774241" "subst" "0" "00037" "TEX11_000011" "g.69774241C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70554391C>T" "" "likely benign" "" "0000007094" "20" "30" "X" "69774517" "69774517" "subst" "0.995463" "00037" "TEX11_000012" "g.69774517A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70554667A>T" "" "likely benign" "" "0000007095" "20" "30" "X" "69811416" "69811416" "subst" "0" "00037" "TEX11_000015" "g.69811416G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70591566G>A" "" "likely benign" "" "0000007096" "20" "50" "X" "69811844" "69811844" "subst" "0" "00037" "TEX11_000010" "g.69811844G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70591994G>T" "" "VUS" "" "0000007097" "20" "50" "X" "69827222" "69827222" "subst" "0" "00037" "TEX11_000013" "g.69827222G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70607372G>A" "" "VUS" "" "0000007098" "20" "50" "X" "69844797" "69844797" "subst" "0.650377" "00037" "TEX11_000014" "g.69844797G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70624947G>A" "" "VUS" "" "0000007099" "20" "50" "X" "69844948" "69844948" "subst" "0" "00037" "TEX11_000017" "g.69844948G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70625098G>A" "" "VUS" "" "0000007100" "20" "50" "X" "69871592" "69871592" "subst" "0" "00037" "TEX11_000019" "g.69871592T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70651742T>C" "" "VUS" "" "0000007101" "20" "50" "X" "70093038" "70093038" "subst" "0.4526" "00037" "TEX11_000028" "g.70093038C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70873188C>T" "" "VUS" "" "0000009178" "20" "30" "X" "69749139" "69749139" "subst" "0" "00037" "TEX11_000009" "g.69749139G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70529289G>A" "" "likely benign" "" "0000009179" "20" "50" "X" "69750060" "69750060" "subst" "0" "00037" "TEX11_000024" "g.69750060C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70530210C>T" "" "VUS" "" "0000009180" "20" "30" "X" "69774517" "69774517" "subst" "0.995463" "00037" "TEX11_000012" "g.69774517A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70554667A>T" "" "likely benign" "" "0000009181" "20" "30" "X" "69811416" "69811416" "subst" "0" "00037" "TEX11_000015" "g.69811416G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.70591566G>A" "" "likely benign" "" "0000009182" "20" "50" "X" "69811844" "69811844" "subst" "0" "00037" "TEX11_000010" "g.69811844G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70591994G>T" "" "VUS" "" "0000009183" "20" "50" "X" "69844797" "69844797" "subst" "0.650377" "00037" "TEX11_000014" "g.69844797G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70624947G>A" "" "VUS" "" "0000009184" "20" "50" "X" "70093038" "70093038" "subst" "0.4526" "00037" "TEX11_000028" "g.70093038C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70873188C>T" "" "VUS" "" "0000009185" "20" "50" "X" "70127270" "70127270" "subst" "0" "00037" "TEX11_000021" "g.70127270T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70907420T>C" "" "VUS" "" "0000015067" "20" "50" "X" "69844948" "69844948" "subst" "0" "00037" "TEX11_000017" "g.69844948G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70625098G>A" "" "VUS" "" "0000015068" "20" "50" "X" "69871592" "69871592" "subst" "0" "00037" "TEX11_000019" "g.69871592T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.70651742T>C" "" "VUS" "" "0000089447" "21" "30" "X" "69858896" "69858896" "subst" "0" "01528" "TEX11_000032" "g.69858896G>C" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "" "" "Germline" "" "" "0" "" "" "g.70639046G>C" "" "likely benign" "" "0000089448" "21" "30" "X" "69875981" "69875982" "del" "0" "01528" "TEX11_000008" "g.69875981_69875982del" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "1426-4564_1426-4562delTA" "" "Germline" "" "" "0" "" "" "g.70656131_70656132del" "" "likely benign" "" "0000089449" "21" "30" "X" "70025255" "70025255" "dup" "0" "01528" "TEX11_000016" "g.70025255dup" "" "{PMID:Kumar 2016:27222290}, {DOI:Kumar 2016:10.1038/ejhg.2016.46}" "" "70025255_70025256insT" "" "Germline" "" "" "0" "" "" "g.70805405dup" "" "likely benign" "" "0000194474" "1" "30" "X" "69890346" "69890346" "subst" "0" "00124" "TEX11_000001" "g.69890346C>T" "8/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 8 times" "Germline" "" "" "0" "" "" "g.70670496C>T" "" "likely benign" "" "0000194475" "1" "30" "X" "69772045" "69772045" "subst" "2.25182E-5" "00124" "TEX11_000002" "g.69772045A>G" "9/208 cases" "{PMID:Tarpey 2009:19377476}" "" "p.D832D" "recurrent, found 9 times" "Germline" "" "" "0" "" "" "g.70552195A>G" "" "likely benign" "" "0000194476" "1" "50" "X" "70080732" "70080732" "subst" "0" "00124" "TEX11_000003" "g.70080732T>C" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.70860882T>C" "" "VUS" "" "0000194477" "1" "50" "X" "70073098" "70073098" "subst" "0.00193099" "00124" "TEX11_000004" "g.70073098G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "p.A135A" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000194478" "1" "50" "X" "70072961" "70072961" "subst" "0" "00124" "TEX11_000005" "g.70072961G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P150S)" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000194479" "1" "50" "X" "69945139" "69945139" "subst" "0" "00124" "TEX11_000006" "g.69945139C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "E300K" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000194480" "21" "90" "X" "69828941" "69828941" "subst" "0" "01285" "TEX11_000007" "g.69828941C>G" "1/208 cases" "" "" "chrX:g.69828941C>G" "" "Germline" "" "" "0" "" "" "g.70609091C>G" "" "pathogenic" "" "0000334545" "0" "30" "X" "69898755" "69898755" "del" "0" "01804" "TEX11_000033" "g.69898755del" "" "" "" "TEX11(NM_001003811.1):c.1202-4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70678905del" "" "likely benign" "" "0000334549" "0" "50" "X" "70073098" "70073098" "subst" "0.00193099" "01804" "TEX11_000037" "g.70073098G>A" "" "" "" "TEX11(NM_001003811.1):c.450C>T (p.(=)), TEX11(NM_001003811.2):c.450C>T (p.A150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.70853248G>A" "" "VUS" "" "0000577166" "0" "30" "X" "69774597" "69774597" "subst" "0.000119337" "01943" "TEX11_000038" "g.69774597C>T" "" "" "" "TEX11(NM_001003811.1):c.2239G>A (p.V747I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70554747C>T" "" "likely benign" "" "0000577167" "0" "30" "X" "69811657" "69811657" "subst" "0" "01943" "TEX11_000039" "g.69811657C>T" "" "" "" "TEX11(NM_001003811.1):c.2129G>A (p.R710H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70591807C>T" "" "likely benign" "" "0000577170" "0" "30" "X" "70072985" "70072985" "subst" "0.000101807" "01943" "TEX11_000036" "g.70072985C>T" "" "" "" "TEX11(NM_001003811.1):c.469G>A (p.V157I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70853135C>T" "" "likely benign" "" "0000659429" "0" "90" "X" "69942547" "69942547" "subst" "0" "02325" "TEX11_000042" "g.69942547C>T" "" "" "" "TEX11(NM_001003811.2):c.971-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.70722697C>T" "" "pathogenic" "" "0000682597" "0" "30" "X" "69902649" "69902649" "subst" "0" "01943" "TEX11_000043" "g.69902649G>T" "" "" "" "TEX11(NM_001003811.1):c.1076C>A (p.T359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682598" "0" "30" "X" "69960618" "69960618" "subst" "4.78515E-5" "01943" "TEX11_000044" "g.69960618T>C" "" "" "" "TEX11(NM_001003811.1):c.821A>G (p.N274S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693705" "0" "30" "X" "69749731" "69749731" "subst" "3.93559E-5" "01943" "TEX11_000045" "g.69749731C>T" "" "" "" "TEX11(NM_001003811.1):c.2684G>A (p.R895H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698126" "0" "70" "X" "70072943" "70072943" "subst" "0.000445615" "00006" "TEX11_000046" "g.70072943T>C" "" "{PMID:Nakamura 2017:28718531}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.70853093T>C" "" "likely pathogenic (dominant)" "ACMG" "0000810613" "0" "30" "X" "69849543" "69849543" "subst" "0" "01804" "TEX11_000047" "g.69849543T>C" "" "" "" "TEX11(NM_001003811.1):c.1571A>G (p.(Glu524Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856748" "0" "30" "X" "69773194" "69773194" "subst" "5.18394E-5" "01943" "TEX11_000048" "g.69773194G>C" "" "" "" "TEX11(NM_001003811.1):c.2406C>G (p.L802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856749" "0" "30" "X" "70072995" "70072995" "subst" "0.000434905" "01943" "TEX11_000050" "g.70072995C>T" "" "" "" "TEX11(NM_001003811.1):c.459G>A (p.E153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867521" "0" "30" "X" "70072944" "70072944" "subst" "0" "01943" "TEX11_000049" "g.70072944G>A" "" "" "" "TEX11(NM_001003811.1):c.510C>T (p.T170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000876888" "20" "70" "X" "69948412" "70047357" ";" "0" "00006" "TEX11_000051" "g.[69948412_70047357del;70047358_70047624inv;70047625_70047739del]" "2/49 cases" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}, {PMID:Riera-Escamilla 2022:35809576}, {DOI:Riera-Escamilla 2022:10.1016/j.ajhg.2022.06.007}" "" "NM_001003811.1:c.652del237bp" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000876889" "20" "70" "X" "70072943" "70072943" "subst" "0.000445615" "00006" "TEX11_000046" "g.70072943T>C" "1/49 cases" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.511A>G" "" "Germline" "" "" "0" "" "" "g.70853093T>C" "" "likely pathogenic" "" "0000876890" "20" "90" "X" "69948412" "70047357" ";" "0" "00006" "TEX11_000051" "g.[69948412_70047357del;70047358_70047624inv;70047625_70047739del]" "2/49 cases" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.652del237bp" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000876891" "20" "70" "X" "69830352" "69830352" "subst" "0" "00006" "TEX11_000055" "g.69830352C>G" "1/240 cases" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.1837+1G>C" "" "Germline" "" "" "0" "" "" "g.70610502C>G" "" "likely pathogenic" "" "0000876892" "20" "90" "X" "69964014" "69964014" "subst" "0" "00006" "TEX11_000057" "g.69964014C>T" "1/240 cases" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.792+1G>A" "" "Germline" "" "" "0" "" "" "g.70744164C>T" "" "pathogenic" "" "0000876893" "20" "90" "X" "70073098" "70073098" "subst" "0.00193099" "00006" "TEX11_000037" "g.70073098G>A" "1/240 cases" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.450C>T" "" "Germline" "" "" "0" "" "" "g.70853248G>A" "" "pathogenic" "" "0000876895" "0" "10" "X" "70073159" "70073159" "subst" "0.123013" "00006" "TEX11_000058" "g.70073159T>C" "" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.389A>G" "" "Germline" "" "" "0" "" "" "g.70853309T>C" "" "benign" "" "0000876896" "0" "10" "X" "69890301" "69890301" "subst" "0.102749" "00006" "TEX11_000056" "g.69890301C>T" "" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.1351G>A" "" "Germline" "" "" "0" "" "" "g.70670451C>T" "" "benign" "" "0000876897" "0" "10" "X" "69772000" "69772000" "subst" "0.111378" "00006" "TEX11_000054" "g.69772000A>G" "" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.2541T>C" "" "Germline" "" "" "0" "" "" "g.70552150A>G" "" "benign" "" "0000876898" "0" "10" "X" "69749852" "69749852" "subst" "0.936746" "00006" "TEX11_000052" "g.69749852A>G" "" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.2566-3T>C" "" "Germline" "" "" "0" "" "" "g.70530002A>G" "" "benign" "" "0000876899" "0" "10" "X" "69749853" "69749853" "subst" "0.936597" "00006" "TEX11_000053" "g.69749853T>A" "" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "NM_001003811.1:c.2566-4A>T" "" "Germline" "" "" "0" "" "" "g.70530003T>A" "" "benign" "" "0000879770" "20" "90" "X" "69825271" "69825271" "subst" "0.000342481" "00006" "TEX11_000059" "g.69825271C>T" "" "{PMID:Yatsenko 2015:25970010}, {DOI:Yatsenko 2015:10.1056/NEJMoa1406192}" "" "" "" "Germline" "" "rs140984555" "0" "" "" "" "" "pathogenic" "" "0000931456" "0" "50" "X" "69774548" "69774548" "subst" "0.000257934" "02327" "TEX11_000060" "g.69774548A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006926" "0" "30" "X" "70072943" "70072943" "subst" "0.000445615" "01804" "TEX11_000046" "g.70072943T>C" "" "" "" "TEX11(NM_031276.2):c.466A>G (p.(Met156Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044465" "0" "30" "X" "69772000" "69772000" "subst" "0.000895829" "01804" "TEX11_000061" "g.69772000A>C" "" "" "" "TEX11(NM_031276.3):c.2496T>G (p.(Asp832Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044466" "0" "30" "X" "69902613" "69902613" "subst" "5.66075E-6" "01804" "TEX11_000062" "g.69902613A>G" "" "" "" "TEX11(NM_031276.3):c.1067T>C (p.(Ile356Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046879" "0" "30" "X" "70073098" "70073098" "subst" "0.00193099" "02325" "TEX11_000004" "g.70073098G>A" "" "" "" "TEX11(NM_001003811.1):c.450C>T (p.(=)), TEX11(NM_001003811.2):c.450C>T (p.A150=)" "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 TEX11 ## Count = 104 "{{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}}" "0000003034" "00025732" "50" "1157" "-3" "1157" "-3" "c.1157-3del" "r.spl?" "p.?" "" "0000003034" "00000460" "50" "1202" "-3" "1202" "-3" "c.1202-3del" "r.spl?" "p.(=)" "" "0000007091" "00025732" "30" "2686" "-102" "2686" "-102" "c.2686-102C>T" "r.(=)" "p.(=)" "" "0000007091" "00000460" "30" "2731" "-102" "2731" "-102" "c.2731-102C>T" "r.(?)" "p.(=)" "30i" "0000007092" "00025732" "50" "2521" "-211" "2521" "-211" "c.2521-211G>A" "r.(=)" "p.(=)" "" "0000007092" "00000460" "50" "2566" "-211" "2566" "-211" "c.2566-211G>A" "r.(=)" "p.(=)" "" "0000007093" "00025732" "30" "2290" "260" "2290" "260" "c.2290+260G>A" "r.(=)" "p.(=)" "" "0000007093" "00000460" "30" "2335" "260" "2335" "260" "c.2335+260G>A" "r.(?)" "p.(=)" "27i" "0000007094" "00025732" "30" "2274" "0" "2274" "0" "c.2274T>A" "r.(=)" "p.(=)" "" "0000007094" "00000460" "30" "2319" "0" "2319" "0" "c.2319T>A" "r.(?)" "p.(=)" "27" "0000007095" "00025732" "30" "2140" "185" "2140" "185" "c.2140+185C>T" "r.(=)" "p.(=)" "" "0000007095" "00000460" "30" "2185" "185" "2185" "185" "c.2185+185C>T" "r.(?)" "p.(=)" "26i" "0000007096" "00025732" "50" "2068" "-171" "2068" "-171" "c.2068-171C>A" "r.(=)" "p.(=)" "" "0000007096" "00000460" "50" "2113" "-171" "2113" "-171" "c.2113-171C>A" "r.(=)" "p.(=)" "" "0000007097" "00025732" "50" "1880" "-343" "1880" "-343" "c.1880-343C>T" "r.(=)" "p.(=)" "" "0000007097" "00000460" "50" "1925" "-343" "1925" "-343" "c.1925-343C>T" "r.(=)" "p.(=)" "" "0000007098" "00025732" "50" "1609" "-23" "1609" "-23" "c.1609-23C>T" "r.(=)" "p.(=)" "" "0000007098" "00000460" "50" "1654" "-23" "1654" "-23" "c.1654-23C>T" "r.(=)" "p.(=)" "" "0000007099" "00025732" "50" "1609" "-174" "1609" "-174" "c.1609-174C>T" "r.(=)" "p.(=)" "" "0000007099" "00000460" "50" "1654" "-174" "1654" "-174" "c.1654-174C>T" "r.(=)" "p.(=)" "" "0000007100" "00025732" "50" "1381" "-190" "1381" "-190" "c.1381-190A>G" "r.(=)" "p.(=)" "" "0000007100" "00000460" "50" "1426" "-190" "1426" "-190" "c.1426-190A>G" "r.(=)" "p.(=)" "" "0000007101" "00025732" "50" "244" "35" "244" "35" "c.244+35G>A" "r.(=)" "p.(=)" "" "0000007101" "00000460" "50" "289" "35" "289" "35" "c.289+35G>A" "r.(=)" "p.(=)" "" "0000009178" "00025732" "30" "2686" "-102" "2686" "-102" "c.2686-102C>T" "r.(=)" "p.(=)" "" "0000009178" "00000460" "30" "2731" "-102" "2731" "-102" "c.2731-102C>T" "r.(?)" "p.(=)" "30i" "0000009179" "00025732" "50" "2521" "-211" "2521" "-211" "c.2521-211G>A" "r.(=)" "p.(=)" "" "0000009179" "00000460" "50" "2566" "-211" "2566" "-211" "c.2566-211G>A" "r.(=)" "p.(=)" "" "0000009180" "00025732" "30" "2274" "0" "2274" "0" "c.2274T>A" "r.(=)" "p.(=)" "" "0000009180" "00000460" "30" "2319" "0" "2319" "0" "c.2319T>A" "r.(?)" "p.(=)" "27" "0000009181" "00025732" "30" "2140" "185" "2140" "185" "c.2140+185C>T" "r.(=)" "p.(=)" "" "0000009181" "00000460" "30" "2185" "185" "2185" "185" "c.2185+185C>T" "r.(?)" "p.(=)" "26i" "0000009182" "00025732" "50" "2068" "-171" "2068" "-171" "c.2068-171C>A" "r.(=)" "p.(=)" "" "0000009182" "00000460" "50" "2113" "-171" "2113" "-171" "c.2113-171C>A" "r.(=)" "p.(=)" "" "0000009183" "00025732" "50" "1609" "-23" "1609" "-23" "c.1609-23C>T" "r.(=)" "p.(=)" "" "0000009183" "00000460" "50" "1654" "-23" "1654" "-23" "c.1654-23C>T" "r.(=)" "p.(=)" "" "0000009184" "00025732" "50" "244" "35" "244" "35" "c.244+35G>A" "r.(=)" "p.(=)" "" "0000009184" "00000460" "50" "289" "35" "289" "35" "c.289+35G>A" "r.(=)" "p.(=)" "" "0000009185" "00025732" "50" "37" "333" "37" "333" "c.37+333A>G" "r.(=)" "p.(=)" "" "0000009185" "00000460" "50" "-41" "333" "-41" "333" "c.-41+333A>G" "r.(=)" "p.(=)" "" "0000015067" "00025732" "50" "1609" "-174" "1609" "-174" "c.1609-174C>T" "r.(=)" "p.(=)" "" "0000015067" "00000460" "50" "1654" "-174" "1654" "-174" "c.1654-174C>T" "r.(=)" "p.(=)" "" "0000015068" "00025732" "50" "1381" "-190" "1381" "-190" "c.1381-190A>G" "r.(=)" "p.(=)" "" "0000015068" "00000460" "50" "1426" "-190" "1426" "-190" "c.1426-190A>G" "r.(=)" "p.(=)" "" "0000089447" "00000460" "30" "1529" "-9311" "1529" "-9311" "c.1529-9311C>G" "r.(?)" "p.(=)" "" "0000089448" "00000460" "30" "1426" "-4563" "1426" "-4562" "c.1426-4563_1426-4562del" "r.(?)" "p.(=)" "17i" "0000089449" "00000460" "30" "737" "1308" "737" "1308" "c.737+1308dup" "r.(=)" "p.(=)" "10i" "0000194474" "00000460" "30" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(E436K)" "" "0000194475" "00000460" "30" "2496" "0" "2496" "0" "c.2496T>C" "r.(?)" "p.(=)" "" "0000194476" "00000460" "50" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(K115R)" "" "0000194477" "00000460" "50" "450" "0" "450" "0" "c.450C>T" "r.(=)" "p.(Ala150=)" "" "0000194478" "00000460" "50" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Pro165Ser)" "" "0000194479" "00000460" "50" "943" "0" "943" "0" "c.943G>A" "r.(?)" "p.(Glu315Lys)" "" "0000194480" "00000460" "90" "1924" "0" "1924" "0" "c.1924G>C" "r.(?)" "p.(Ala642Pro)" "22" "0000334545" "00025732" "30" "1157" "-4" "1157" "-4" "c.1157-4del" "r.spl?" "p.?" "" "0000334545" "00000460" "30" "1202" "-4" "1202" "-4" "c.1202-4del" "r.spl?" "p.?" "" "0000334549" "00025732" "50" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Ala135=)" "" "0000334549" "00000460" "50" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Ala150=)" "" "0000577166" "00025732" "30" "2194" "0" "2194" "0" "c.2194G>A" "r.(?)" "p.(Val732Ile)" "" "0000577166" "00000460" "30" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Ile)" "" "0000577167" "00025732" "30" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695His)" "" "0000577167" "00000460" "30" "2129" "0" "2129" "0" "c.2129G>A" "r.(?)" "p.(Arg710His)" "" "0000577170" "00025732" "30" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Val142Ile)" "" "0000577170" "00000460" "30" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Val157Ile)" "" "0000659429" "00025732" "90" "926" "-1" "926" "-1" "c.926-1G>A" "r.spl?" "p.?" "" "0000659429" "00000460" "90" "971" "-1" "971" "-1" "c.971-1G>A" "r.spl?" "p.?" "" "0000682597" "00025732" "30" "1031" "0" "1031" "0" "c.1031C>A" "r.(?)" "p.(Thr344Lys)" "" "0000682597" "00000460" "30" "1076" "0" "1076" "0" "c.1076C>A" "r.(?)" "p.(Thr359Lys)" "" "0000682598" "00025732" "30" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asn259Ser)" "" "0000682598" "00000460" "30" "821" "0" "821" "0" "c.821A>G" "r.(?)" "p.(Asn274Ser)" "" "0000693705" "00025732" "30" "2639" "0" "2639" "0" "c.2639G>A" "r.(?)" "p.(Arg880His)" "" "0000693705" "00000460" "30" "2684" "0" "2684" "0" "c.2684G>A" "r.(?)" "p.(Arg895His)" "" "0000698126" "00000460" "70" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Met171Val)" "" "0000810613" "00025732" "30" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Glu509Gly)" "" "0000810613" "00000460" "30" "1571" "0" "1571" "0" "c.1571A>G" "r.(?)" "p.(Glu524Gly)" "" "0000856748" "00025732" "30" "2361" "0" "2361" "0" "c.2361C>G" "r.(?)" "p.(Leu787=)" "" "0000856748" "00000460" "30" "2406" "0" "2406" "0" "c.2406C>G" "r.(?)" "p.(Leu802=)" "" "0000856749" "00025732" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Glu138=)" "" "0000856749" "00000460" "30" "459" "0" "459" "0" "c.459G>A" "r.(?)" "p.(Glu153=)" "" "0000867521" "00025732" "30" "465" "0" "465" "0" "c.465C>T" "r.(?)" "p.(Thr155=)" "" "0000867521" "00000460" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Thr170=)" "" "0000876888" "00000460" "70" "651" "5624" "651" "5738" "c.[651+5624_651+5738del;651+5739_651+6005inv;651+6006_889-3219del]" "r.(652_888del)" "p.(Thr218_Lys296del)" "9i_12i" "0000876889" "00000460" "70" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Met171Val)" "" "0000876890" "00000460" "90" "651" "5624" "651" "5738" "c.[651+5624_651+5738del;651+5739_651+6005inv;651+6006_889-3219del]" "r.(652_888del)" "p.(Thr218_Lys296del)" "9i_12i" "0000876891" "00000460" "70" "1837" "1" "1837" "1" "c.1837+1G>C" "r.spl" "p.?" "" "0000876892" "00000460" "90" "792" "1" "792" "1" "c.792+1G>A" "r.spl" "p.?" "" "0000876893" "00000460" "90" "450" "0" "450" "0" "c.450C>T" "r.spl" "p.?" "" "0000876895" "00000460" "10" "389" "0" "389" "0" "c.389A>G" "r.(652_888del)" "p.(Lys130Arg)" "5" "0000876896" "00000460" "10" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Glu451Lys)" "15" "0000876897" "00000460" "10" "2541" "0" "2541" "0" "c.2541T>C" "r.(652_888del)" "p.(Asp847=)" "27" "0000876898" "00000460" "10" "2566" "-3" "2566" "-3" "c.2566-3T>C" "r.spl" "p.(=)" "27i" "0000876899" "00000460" "10" "2566" "-4" "2566" "-4" "c.2566-4A>T" "r.spl" "p.(=)" "27i" "0000879770" "00025732" "90" "2047" "0" "2047" "0" "c.2047G>A" "r.(?)" "p.(Ala683Thr)" "" "0000879770" "00000460" "90" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Ala698Thr)" "" "0000931456" "00025732" "50" "2243" "0" "2243" "0" "c.2243T>C" "r.(?)" "p.(Val748Ala)" "" "0000931456" "00000460" "50" "2288" "0" "2288" "0" "c.2288T>C" "r.(?)" "p.(Val763Ala)" "" "0001006926" "00025732" "30" "466" "0" "466" "0" "c.466A>G" "r.(?)" "p.(Met156Val)" "" "0001006926" "00000460" "30" "511" "0" "511" "0" "c.511A>G" "r.(?)" "p.(Met171Val)" "" "0001044465" "00025732" "30" "2496" "0" "2496" "0" "c.2496T>G" "r.(?)" "p.(Asp832Glu)" "" "0001044465" "00000460" "30" "2541" "0" "2541" "0" "c.2541T>G" "r.(?)" "p.(Asp847Glu)" "" "0001044466" "00025732" "30" "1067" "0" "1067" "0" "c.1067T>C" "r.(?)" "p.(Ile356Thr)" "" "0001044466" "00000460" "30" "1112" "0" "1112" "0" "c.1112T>C" "r.(?)" "p.(Ile371Thr)" "" "0001046879" "00025732" "30" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Ala135=)" "" "0001046879" "00000460" "30" "450" "0" "450" "0" "c.450C>T" "r.(?)" "p.(Ala150=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003034" "0000000209" "0000007091" "0000000209" "0000007092" "0000000209" "0000007093" "0000000209" "0000007094" "0000000209" "0000007095" "0000000209" "0000007096" "0000000209" "0000007097" "0000000209" "0000007098" "0000000209" "0000007099" "0000000209" "0000007100" "0000000209" "0000007101" "0000000210" "0000009178" "0000000210" "0000009179" "0000000210" "0000009180" "0000000210" "0000009181" "0000000210" "0000009182" "0000000210" "0000009183" "0000000210" "0000009184" "0000000210" "0000009185" "0000000210" "0000015067" "0000000210" "0000015068" "0000058785" "0000089447" "0000058785" "0000089448" "0000058785" "0000089449" "0000118370" "0000194474" "0000118371" "0000194475" "0000118372" "0000194476" "0000118373" "0000194477" "0000118374" "0000194478" "0000118375" "0000194479" "0000118376" "0000194480" "0000316010" "0000698126" "0000417266" "0000876888" "0000417267" "0000876889" "0000417268" "0000876890" "0000417269" "0000876891" "0000417270" "0000876892" "0000417271" "0000876893" "0000417273" "0000876895" "0000417274" "0000876896" "0000417275" "0000876897" "0000417276" "0000876898" "0000417277" "0000876899" "0000419660" "0000879770"