### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TXNL4A) # 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}}" "TXNL4A" "thioredoxin-like 4A" "18" "q23" "unknown" "NC_000018.9" "UD_136081428210" "" "https://www.LOVD.nl/TXNL4A" "" "1" "30551" "10907" "611595" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TXNL4A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-21 10:11:59" "00000" "2025-05-05 21:14:00" ## 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}}" "00022183" "TXNL4A" "thioredoxin-like 4A" "001" "NM_006701.2" "" "NP_006692.1" "" "" "" "-140" "1247" "429" "77748532" "77732867" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05056" "BMKS" "Burn-McKeown syndrome (BMKS)" "AR" "608572" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TXNL4A" "05056" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050538" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00103805" "" "" "" "4" "" "00151" "Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia" "" "F" "no" "" "" "0" "" "" "" "" "00103808" "" "" "" "1" "" "00151" "Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia" "" "M" "no" "" "" "0" "" "" "" "" "00103810" "" "" "" "1" "" "00151" "Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia" "" "M" "yes" "" "" "0" "" "" "" "" "00103846" "" "" "" "2" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Germany" "" "0" "" "" "" "25434003-FamBMKS001" "00103847" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Switzerland" "" "0" "" "" "" "25434003-FamBMKS002" "00103849" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Viet Nam" "" "0" "" "" "" "25434003-FamBMKS004" "00103850" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "25434003-FamBMKS005" "00103851" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "25434003-FamBMKS006" "00103852" "" "" "" "2" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "25434003-FamBMKS007" "00103853" "" "" "" "5" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "multi-generation family, >5 affected, unaffected heterozygous carrier parents/relatives" "M" "" "" "" "0" "" "" "Alaska" "25434003-FamBMKS008" "00103854" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "25434003-FamBMKS009" "00103855" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "25434003-FamBMKS010" "00103857" "" "" "" "11" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "controls, 3165 German and 178 South Asian" "" "" "" "" "0" "" "" "German, Asian (south)" "25434003-con" "00103859" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "3165 German and 178 South Asian controls" "" "" "" "" "0" "" "" "" "25434003-con" "00103860" "" "" "" "45" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "3,165 German and 178 South Asian controls" "" "" "" "" "0" "" "" "" "25434003-con" "00103861" "" "" "" "1" "" "00006" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "3,165 German and 178 South Asian controls" "" "" "Germany" "" "0" "" "" "" "25434003-con" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00050538" "00198" "00103805" "05056" "00103808" "05056" "00103810" "05056" "00103846" "05056" "00103847" "05056" "00103849" "05056" "00103850" "05056" "00103851" "05056" "00103852" "05056" "00103853" "05056" "00103854" "05056" "00103855" "05056" "00103857" "00000" "00103859" "00198" "00103860" "00000" "00103861" "00000" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 05056 ## Count = 13 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037150" "00198" "00050538" "00006" "Isolated (sporadic)" "" "microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure" "" "" "" "" "" "" "" "" "" "" "" "0000081727" "05056" "00103805" "00151" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081730" "05056" "00103808" "00151" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081731" "05056" "00103810" "00151" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000081768" "05056" "00103846" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000081769" "05056" "00103847" "00006" "Familial, autosomal recessive" "" "see paper; …, initial clinical diagnosis of Treacher Collins syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000081771" "05056" "00103849" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000081772" "05056" "00103850" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000081773" "05056" "00103851" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000081774" "05056" "00103852" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000081775" "05056" "00103853" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000081776" "05056" "00103854" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000081777" "05056" "00103855" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050483" "00050538" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000104256" "00103805" "1" "00151" "00151" "2017-04-20 12:59:02" "" "" "SEQ-NG" "DNA" "whole blood" "" "0000104259" "00103808" "1" "00151" "00151" "2017-04-20 13:08:11" "" "" "SEQ-NG" "DNA" "whole blood" "" "0000104260" "00103810" "1" "00151" "00151" "2017-04-20 13:11:07" "" "" "SEQ-NG" "DNA" "whole blood" "" "0000104297" "00103846" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;SEQ-NG;arraySNP;MLPA" "DNA" "" "" "0000104298" "00103847" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;SEQ-NG;arraySNP;MLPA" "DNA" "" "" "0000104300" "00103849" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;SEQ-NG;arraySNP;MLPA" "DNA" "" "" "0000104301" "00103850" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;SEQ-NG;arraySNP;MLPA" "DNA" "" "" "0000104302" "00103851" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;arrayCGH;MLPA" "DNA" "" "" "0000104303" "00103852" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;arrayCGH;MLPA" "DNA" "" "" "0000104304" "00103853" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;SEQ-NG;arraySNP;MLPA" "DNA" "" "" "0000104305" "00103854" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;arrayCGH;MLPA" "DNA" "" "" "0000104306" "00103855" "1" "00006" "00006" "2017-04-21 13:44:23" "" "" "SEQ;arraySNP;MLPA" "DNA" "" "" "0000104308" "00103857" "1" "00006" "00006" "2017-04-21 14:29:10" "" "" "SEQ" "DNA" "" "" "0000104310" "00103859" "1" "00006" "00006" "2017-04-21 14:48:56" "" "" "SEQ" "DNA" "" "" "0000104311" "00103860" "1" "00006" "00006" "2017-04-21 14:51:57" "" "" "SEQ" "DNA" "" "" "0000104312" "00103861" "1" "00006" "00006" "2017-04-21 14:54:00" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000104256" "TXNL4A" "0000104259" "TXNL4A" "0000104260" "TXNL4A" "0000104297" "TXNL4A" "0000104298" "TXNL4A" "0000104300" "TXNL4A" "0000104301" "TXNL4A" "0000104302" "TXNL4A" "0000104303" "TXNL4A" "0000104304" "TXNL4A" "0000104305" "TXNL4A" "0000104306" "TXNL4A" "0000104308" "TXNL4A" "0000104310" "TXNL4A" "0000104311" "TXNL4A" "0000104312" "TXNL4A" ## 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 = 39 "{{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}}" "0000079672" "0" "90" "18" "48362664" "78015180" "del" "0" "00006" "ATP8B1_000025" "g.48362664_78015180del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, hemizygous in 0.46 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000168924" "11" "90" "18" "77733858" "77733858" "subst" "0" "00151" "TXNL4A_000002" "g.77733858T>C" "" "Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia" "" "" "" "Germline" "" "" "0" "" "" "g.79973858T>C" "" "pathogenic" "" "0000168925" "21" "90" "18" "77748603" "77748636" "del" "0" "00151" "TXNL4A_000003" "g.77748603_77748636del" "" "Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia" "" "" "" "Germline" "" "" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168927" "3" "90" "18" "77748603" "77748636" "del" "0" "00151" "TXNL4A_000003" "g.77748603_77748636del" "" "Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia" "" "" "" "Germline" "" "" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168928" "3" "90" "18" "77748607" "77748640" "del" "0" "00151" "TXNL4A_000001" "g.77748607_77748640del" "" "Goos et al. Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia" "" "" "" "Germline" "" "" "0" "" "" "g.79988607_79988640del" "" "pathogenic" "" "0000168965" "11" "90" "18" "77733765" "77733765" "subst" "0" "00006" "TXNL4A_000004" "g.77733765C>A" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0002}" "" "" "no NMD" "Germline" "yes" "rs727502793" "0" "" "" "g.79973765C>A" "" "pathogenic" "" "0000168966" "11" "90" "18" "77748356" "77748356" "subst" "0" "00006" "TXNL4A_000005" "g.77748356G>A" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0003}" "" "" "no NMD" "Germline" "" "rs727502794" "0" "" "" "g.79988356G>A" "" "pathogenic" "" "0000168967" "1" "90" "18" "76854774" "78077248" "del" "0" "00006" "TXNL4A_000000" "g.76854774_78077248del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "1.164 Mb deletion" "Germline" "" "" "0" "" "del(18)(q23_qter)" "" "" "pathogenic" "" "0000168968" "21" "90" "18" "77748262" "77748262" "del" "0" "00006" "TXNL4A_000006" "g.77748262del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0004}" "" "" "no NMD" "Germline" "" "rs727502795" "0" "" "" "g.79988262del" "" "pathogenic" "" "0000168969" "21" "90" "18" "77421290" "77904990" "" "0" "00006" "TXNL4A_000000" "g.(77320000_77421290)_(77904990_78000000)del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "0.484Mb deletion" "Germline" "" "" "0" "" "arr[hg19] 18q23(77,421,290–77,904,990)x1" "" "" "pathogenic" "" "0000168970" "11" "90" "18" "76841645" "78077248" "del" "0" "00006" "TXNL4A_000009" "g.76841645_78077248del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "1.235 Mb deletion" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000168971" "3" "90" "18" "77748607" "77748640" "del" "0" "00006" "TXNL4A_000007" "g.77748607_77748640del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0006}" "" "" "" "Germline" "yes" "" "0" "" "" "g.79988607_79988640del" "" "pathogenic" "" "0000168972" "1" "90" "18" "0" "0" "" "0" "00006" "TXNL4A_000000" "g.pter_?del::(73270000_73376178)_(78077248_qter)del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "46,XX,r(18)(p14q23)" "" "De novo" "-" "" "0" "" "" "" "" "pathogenic" "" "0000168973" "1" "90" "18" "77733857" "77830000" "" "0" "00006" "TXNL4A_000010" "g.(77830000_77732867)_(77733857_77737597)del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0005}" "" "" "exon 3 deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000168974" "21" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "reduced expression mRNA" "Germline" "yes" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168975" "21" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "reduced expression mRNA" "Germline" "" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168976" "2" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "" "Germline" "" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168977" "11" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "reduced mRNA expression" "Germline" "" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168978" "11" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "" "Germline" "" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168979" "21" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "" "Germline" "yes" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168980" "21" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "" "Germline" "" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168981" "2" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000008" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}, {OMIM611595:0001}" "" "" "" "Germline" "" "rs535089924" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168982" "3" "30" "18" "77748637" "77748637" "subst" "0" "00006" "TXNL4A_000011" "g.77748637T>C" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "" "Germline" "" "" "0" "" "" "g.79988637T>C" "" "likely benign" "" "0000168983" "1" "30" "18" "77748603" "77748636" "dup" "0" "00006" "TXNL4A_000012" "g.77748603_77748636dup" "11/3343 controls" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "77,748,581_77,748,614dup" "" "Germline" "" "" "0" "" "" "g.79988603_79988636dup" "" "likely benign" "" "0000168984" "0" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000003" "g.77748603_77748636del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "expression cloning luciferase reporter gene assays HEK293 cells shows 0.41 promoter activity" "In vitro (cloned)" "-" "" "0" "" "" "g.79988603_79988636del" "" "NA" "" "0000168985" "0" "90" "18" "77748607" "77748640" "del" "0" "00006" "TXNL4A_000001" "g.77748607_77748640del" "" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "expression cloning luciferase reporter gene assays HEK293 cells shows 0.28 promoter activity" "In vitro (cloned)" "-" "" "0" "" "" "g.79988607_79988640del" "" "NA" "" "0000168987" "3" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000003" "g.77748603_77748636del" "1/3343 controls" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "no phenotype data available" "Germline" "" "" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168988" "1" "90" "18" "77748603" "77748636" "del" "0" "00006" "TXNL4A_000003" "g.77748603_77748636del" "45/3343 controls" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "" "Germline" "" "" "0" "" "" "g.79988603_79988636del" "" "pathogenic" "" "0000168989" "1" "90" "18" "77748607" "77748640" "del" "0" "00006" "TXNL4A_000001" "g.77748607_77748640del" "1/3343 controls" "{PMID:Wieczorek 2014:25434003}, {DOI:Wieczorek 2014:10.1016/j.ajhg.2014.10.014}" "" "" "" "Germline" "" "" "0" "" "" "g.79988607_79988640del" "" "pathogenic" "" "0000319163" "0" "10" "18" "77748659" "77748659" "subst" "0" "01943" "TXNL4A_000015" "g.77748659G>A" "" "" "" "TXNL4A(NM_006701.5):c.-267C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79988659G>A" "" "benign" "" "0000319164" "0" "10" "18" "77748701" "77748701" "subst" "0" "01943" "TXNL4A_000016" "g.77748701G>C" "" "" "" "TXNL4A(NM_006701.5):c.-309C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79988701G>C" "" "benign" "" "0000319165" "0" "10" "18" "77748859" "77748859" "subst" "0" "01943" "TXNL4A_000017" "g.77748859G>C" "" "" "" "TXNL4A(NM_006701.5):c.-467C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79988859G>C" "" "benign" "" "0000319166" "0" "10" "18" "77748972" "77748972" "subst" "0" "01943" "TXNL4A_000018" "g.77748972C>T" "" "" "" "TXNL4A(NM_006701.5):c.-580G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79988972C>T" "" "benign" "" "0000319167" "0" "10" "18" "77748975" "77748975" "subst" "0" "01943" "TXNL4A_000019" "g.77748975G>A" "" "" "" "TXNL4A(NM_006701.5):c.-583C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79988975G>A" "" "benign" "" "0000319168" "0" "30" "18" "77733860" "77733860" "subst" "0.0136224" "01943" "TXNL4A_000013" "g.77733860C>T" "" "" "" "TXNL4A(NM_006701.5):c.258-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79973860C>T" "" "likely benign" "" "0000565464" "0" "90" "18" "77733858" "77733858" "subst" "0" "01943" "TXNL4A_000002" "g.77733858T>C" "" "" "" "TXNL4A(NM_006701.5):c.258-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79973858T>C" "" "pathogenic" "" "0000983126" "0" "70" "18" "77748603" "77748636" "del" "0" "01804" "TXNL4A_000003" "g.77748603_77748636del" "" "" "" "TXNL4A(NM_001305563.2):c.-60-10913_-60-10880del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001011824" "0" "30" "18" "77748230" "77748230" "subst" "0" "03779" "TXNL4A_000020" "g.77748230G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs372609874" "0" "" "" "" "" "likely benign" "" "0001042529" "0" "30" "18" "77798513" "77798513" "subst" "0.0026706" "01804" "RBFA_000001" "g.77798513G>C" "" "" "" "RBFA(NM_024805.3):c.387G>C (p.(Leu129=))" "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 TXNL4A ## Count = 39 "{{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}}" "0000079672" "00022183" "00" "-266788" "0" "8388607" "0" "c.-266788_*29371021del" "r.0?" "p.0?" "" "0000168924" "00022183" "90" "258" "-2" "258" "-2" "c.258-2A>G" "r.spl" "p.?" "2i" "0000168925" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168927" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168928" "00022183" "90" "-245" "0" "-212" "0" "c.-245_-212del" "r.?" "p.?" "_1" "0000168965" "00022183" "90" "349" "0" "349" "0" "c.349G>T" "r.349g>u" "p.Glu117*" "3" "0000168966" "00022183" "90" "37" "0" "37" "0" "c.37C>T" "r.37c>u" "p.Gln13*" "1" "0000168967" "00022183" "90" "-328856" "0" "879340" "0" "c.-328856_*878911del" "r.0" "p.0" "_1_3_" "0000168968" "00022183" "90" "131" "0" "131" "0" "c.131del" "r.131del" "p.Val44Alafs*48" "5" "0000168969" "00022183" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_3_" "0000168970" "00022183" "90" "-328856" "0" "892469" "0" "c.-328856_*892040del" "r.0" "p.0" "_1_3_" "0000168971" "00022183" "90" "-245" "0" "-212" "0" "c.-245_-212del" "r.?" "p.?" "_1" "0000168972" "00022183" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_3_" "0000168973" "00022183" "90" "258" "-1" "1247" "0" "c.(257+1_258-1)_(*818_?)del" "r.?" "p.?" "2i_3_" "0000168974" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.=|red" "p.=|red" "_1" "0000168975" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.=|red" "p.=|red" "_1" "0000168976" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168977" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.=|red" "p.=|red" "_1" "0000168978" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168979" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168980" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168981" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168982" "00022183" "30" "-245" "0" "-245" "0" "c.-245A>G" "-" "-" "_1" "0000168983" "00022183" "30" "-222" "0" "-189" "0" "c.-222_-189dup" "-" "-" "_1" "0000168984" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.(=)" "p.(=)" "" "0000168985" "00022183" "90" "-245" "0" "-212" "0" "c.-245_-212del" "r.?" "p.?" "_1" "0000168987" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168988" "00022183" "90" "-222" "0" "-189" "0" "c.-222_-189del" "r.?" "p.?" "_1" "0000168989" "00022183" "90" "-245" "0" "-212" "0" "c.-245_-212del" "r.?" "p.?" "_1" "0000319163" "00022183" "10" "-267" "0" "-267" "0" "c.-267C>T" "r.(?)" "p.(=)" "" "0000319164" "00022183" "10" "-309" "0" "-309" "0" "c.-309C>G" "r.(?)" "p.(=)" "" "0000319165" "00022183" "10" "-467" "0" "-467" "0" "c.-467C>G" "r.(?)" "p.(=)" "" "0000319166" "00022183" "10" "-580" "0" "-580" "0" "c.-580G>A" "r.(?)" "p.(=)" "" "0000319167" "00022183" "10" "-583" "0" "-583" "0" "c.-583C>T" "r.(?)" "p.(=)" "" "0000319168" "00022183" "30" "258" "-4" "258" "-4" "c.258-4G>A" "r.spl?" "p.?" "" "0000565464" "00022183" "90" "258" "-2" "258" "-2" "c.258-2A>G" "r.spl?" "p.?" "" "0000983126" "00022183" "70" "-222" "0" "-189" "0" "c.-222_-189del" "r.(?)" "p.(=)" "" "0001011824" "00022183" "30" "153" "10" "153" "10" "c.153+10C>G" "r.(?)" "p.(?)" "" "0001042529" "00022183" "30" "-50121" "0" "-50121" "0" "c.-50121C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000050483" "0000079672" "0000104256" "0000168924" "0000104256" "0000168925" "0000104259" "0000168927" "0000104260" "0000168928" "0000104297" "0000168965" "0000104297" "0000168974" "0000104298" "0000168966" "0000104298" "0000168975" "0000104300" "0000168967" "0000104300" "0000168976" "0000104301" "0000168968" "0000104301" "0000168977" "0000104302" "0000168969" "0000104302" "0000168978" "0000104303" "0000168970" "0000104303" "0000168979" "0000104304" "0000168971" "0000104304" "0000168982" "0000104305" "0000168972" "0000104305" "0000168980" "0000104306" "0000168973" "0000104306" "0000168981" "0000104308" "0000168983" "0000104310" "0000168987" "0000104311" "0000168988" "0000104312" "0000168989"