### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TONSL) # 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}}" "TONSL" "tonsoku-like, DNA repair protein" "8" "q24.3" "unknown" "NC_000008.10" "UD_132611103389" "" "https://www.LOVD.nl/TONSL" "" "1" "7801" "4796" "604546" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TONSL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-16 13:07:24" "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}}" "00021634" "TONSL" "tonsoku-like, DNA repair protein" "001" "NM_013432.4" "" "NP_038460.4" "" "" "" "-15" "4500" "4137" "145669812" "145654163" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05369" "SMD" "dysplasia, spondylometaphyseal (SMD)" "" "" "" "" "" "00006" "2017-12-29 15:48:06" "" "" "05476" "SEMDSP" "dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)" "AR" "271510" "" "autosomal recesive" "" "00006" "2018-10-20 03:14:40" "00006" "2020-05-19 10:37:38" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TONSL" "05476" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00183261" "" "" "" "1" "" "00006" "Burrage ASHG2018 P277, {DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat1" "00225433" "" "" "" "2" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "no" "Korea, South (Republic)" "" "0" "" "" "" "-Fam1Pat1/2" "00225434" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat2" "00225435" "" "" "" "2" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "2-generation family, 2 affected brothers" "M" "" "" "" "0" "" "" "" "-Pat3-1" "00225436" "" "" "00225435" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "M" "" "" "" "0" "" "" "" "-Pat3-2" "00225437" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat4" "00225438" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat5" "00225439" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat6" "00225440" "" "" "" "2" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "2-generation family, affected brother/SISTER" "F" "" "" "" "0" "" "" "" "-Pat7-1" "00225441" "" "" "00225440" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat7-2" "00225442" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat8" "00225443" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "M" "" "" "" "0" "" "" "" "-Pat9" "00225444" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "M" "" "" "" "0" "" "" "" "-Pat10" "00225447" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "M" "" "" "" "0" "" "" "" "-Pat13" "00225448" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "F" "" "" "" "0" "" "" "" "-Pat14" "00225449" "" "" "" "1" "" "00006" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "M" "" "" "" "0" "" "" "" "-Pat15" "00225450" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "-Pat2" "00225451" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "-Pat3" "00225452" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Brazil" "" "0" "" "" "African black;non-Latin European" "-Pat4" "00225453" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "-Pat5" "00225454" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Finland" "" "0" "" "" "" "-Pat6" "00225455" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "-Pat7" "00225456" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "-Pat8" "00225457" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "India" "" "0" "" "" "" "-Pat9" "00225458" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "India" "" "0" "" "" "" "-Pat10" "00225459" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "-Pat11" "00225460" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "India" "" "0" "" "" "" "-Pat12" "00301520" "" "" "" "1" "" "02544" "{PMID:Micale 2020:32959051}" "" "F" "no" "(Italy)" "" "0" "" "" "" "17-2317" "00443990" "" "" "" "1" "" "04607" "" "" "M" "yes" "(Turkey)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00183261" "05476" "00225433" "05476" "00225434" "05476" "00225435" "05476" "00225436" "05476" "00225437" "05476" "00225438" "05476" "00225439" "05369" "00225440" "05369" "00225441" "05369" "00225442" "05369" "00225443" "05476" "00225444" "05476" "00225447" "05476" "00225448" "05476" "00225449" "05476" "00225450" "05476" "00225451" "05476" "00225452" "05476" "00225453" "05476" "00225454" "05476" "00225455" "05476" "00225456" "05476" "00225457" "05476" "00225458" "05476" "00225459" "05476" "00225460" "05476" "00301520" "05476" "00443990" "05476" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05369, 05476 ## Count = 29 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000143991" "05476" "00183261" "00006" "Familial, autosomal recessive" "07y09m" "see paper; ..." "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170548" "05476" "00225433" "00006" "Familial, autosomal recessive" "7y9m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170549" "05476" "00225434" "00006" "Familial, autosomal recessive" "7y9m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170550" "05476" "00225435" "00006" "Familial, autosomal recessive" "11m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170551" "05476" "00225436" "00006" "Familial, autosomal recessive" "4y9m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170552" "05476" "00225437" "00006" "Familial, autosomal recessive" "9m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170553" "05476" "00225438" "00006" "Familial, autosomal recessive" "22y" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170554" "05369" "00225439" "00006" "Familial, autosomal recessive" "12y" "see paper; …" "" "" "" "" "" "" "" "" "spondylometaphyseal dysplasia" "0000170555" "05369" "00225440" "00006" "Familial, autosomal recessive" "10y9m" "see paper; …" "" "" "" "" "" "" "" "" "spondylometaphyseal dysplasia" "0000170556" "05369" "00225441" "00006" "Familial, autosomal recessive" "9y9m" "see paper; …" "" "" "" "" "" "" "" "" "spondylometaphyseal dysplasia" "0000170557" "05369" "00225442" "00006" "Familial, autosomal recessive" "5y11m" "see paper; …" "" "" "" "" "" "" "" "" "spondylometaphyseal dysplasia" "0000170558" "05476" "00225443" "00006" "Familial, autosomal recessive" "5y9m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170559" "05476" "00225444" "00006" "Familial, autosomal recessive" "15y7m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170562" "05476" "00225447" "00006" "Familial, autosomal recessive" "17y10m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170563" "05476" "00225448" "00006" "Familial, autosomal recessive" "4y9m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170564" "05476" "00225449" "00006" "Familial, autosomal recessive" "11y" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170565" "05476" "00225450" "00006" "Familial, autosomal recessive" "2m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170566" "05476" "00225451" "00006" "Familial, autosomal recessive" "13y" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170567" "05476" "00225452" "00006" "Familial, autosomal recessive" "2y2m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170568" "05476" "00225453" "00006" "Familial, autosomal recessive" "2y7m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170569" "05476" "00225454" "00006" "Familial, autosomal recessive" "1d" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170570" "05476" "00225455" "00006" "Familial, autosomal recessive" "36y" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170571" "05476" "00225456" "00006" "Familial, autosomal recessive" "13y" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170572" "05476" "00225457" "00006" "Familial, autosomal recessive" "14y" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170573" "05476" "00225458" "00006" "Familial, autosomal recessive" "11y" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170574" "05476" "00225459" "00006" "Familial, autosomal recessive" "3y5m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000170575" "05476" "00225460" "00006" "Familial, autosomal recessive" "1y9m" "see paper; …" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" "0000228648" "05476" "00301520" "02544" "Familial, autosomal recessive" "09y" "Frontal bossing, saddled nasal bridge, broad nose, midface hypoplasia, low-set ears, long face, obtuse angles of the mandible, small teeth, short limbs with rhizomelia and relatively normal extremities, genua valga, flatfeet and generalized joint hypermobility." "" "09y" "" "" "" "" "" "Sponastrime dysplasia" "Sponastrime dysplasia" "0000333330" "05476" "00443990" "04607" "Familial, autosomal recessive" "" "rhizomelia, disproportioned short stature, microcephaly, relative macrocephaly, increased lumbar lordosis, kyphosis, metaphyseal dysplasia" "" "" "" "" "" "" "" "SEMDSO" "spondyloepimetaphyseal dysplasia," ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184218" "00183261" "1" "00006" "00006" "2018-10-21 20:44:50" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226512" "00225433" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226513" "00225434" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226514" "00225435" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226515" "00225436" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226516" "00225437" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226517" "00225438" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226518" "00225439" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226519" "00225440" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226520" "00225441" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226521" "00225442" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226522" "00225443" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226523" "00225444" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226526" "00225447" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226527" "00225448" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226528" "00225449" "1" "00006" "00006" "2019-02-16 13:40:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000226529" "00225450" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000226530" "00225451" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000226531" "00225452" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000226532" "00225453" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000226533" "00225454" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000226534" "00225455" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "singleton WES" "0000226535" "00225456" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "singleton WES" "0000226536" "00225457" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "singleton WES" "0000226537" "00225458" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "singleton WES" "0000226538" "00225459" "1" "00006" "00006" "2019-02-16 14:29:08" "00006" "2019-02-16 14:57:18" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000226539" "00225460" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ" "DNA" "" "" "0000302642" "00301520" "1" "02544" "02544" "2020-05-18 14:02:20" "" "" "PCR" "DNA" "blood" "WGS" "0000445487" "00443990" "1" "04607" "04607" "2023-12-09 20:39:09" "" "" "SEQ-NG" "RNA" "peripheral blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{geneid}}" "0000184218" "TONSL" "0000226512" "TONSL" "0000226513" "TONSL" "0000226514" "TONSL" "0000226515" "TONSL" "0000226516" "TONSL" "0000226517" "TONSL" "0000226518" "TONSL" "0000226519" "TONSL" "0000226520" "TONSL" "0000226521" "TONSL" "0000226522" "TONSL" "0000226523" "TONSL" "0000226526" "TONSL" "0000226527" "TONSL" "0000226528" "TONSL" "0000226529" "TONSL" "0000226530" "TONSL" "0000226531" "TONSL" "0000226532" "TONSL" "0000226533" "TONSL" "0000226534" "TONSL" "0000226535" "TONSL" "0000226536" "TONSL" "0000226537" "TONSL" "0000226538" "TONSL" "0000226539" "TONSL" ## 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 = 72 "{{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}}" "0000408226" "1" "90" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "Burrage ASHG2018 P277, {DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs755575416" "1" "" "" "g.144435526G>A" "" "pathogenic (recessive)" "" "0000458762" "11" "90" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144435526G>A" "" "pathogenic (recessive)" "" "0000458763" "1" "90" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs563710728" "0" "" "" "g.144440042C>T" "" "pathogenic (recessive)" "" "0000458764" "1" "90" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "yes" "rs755575416" "0" "" "" "g.144435526G>A" "" "pathogenic (recessive)" "" "0000458765" "1" "90" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "yes" "rs755575416" "0" "" "" "g.144435526G>A" "" "pathogenic (recessive)" "" "0000458766" "1" "90" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs775551492" "0" "" "" "g.144440042C>T" "" "pathogenic (recessive)" "" "0000458767" "1" "90" "8" "145661679" "145661679" "subst" "0" "00006" "TONSL_000007" "g.145661679G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs563710728" "0" "" "" "g.144436296G>A" "" "pathogenic (recessive)" "" "0000458768" "1" "90" "8" "145661679" "145661679" "subst" "0" "00006" "TONSL_000007" "g.145661679G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "" "0" "" "" "g.144436296G>A" "" "pathogenic (recessive)" "" "0000458769" "1" "90" "8" "145666495" "145666495" "subst" "0" "00006" "TONSL_000013" "g.145666495C>G" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "" "0" "" "" "g.144441112C>G" "" "pathogenic (recessive)" "" "0000458770" "1" "90" "8" "145666495" "145666495" "subst" "0" "00006" "TONSL_000013" "g.145666495C>G" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144441112C>G" "" "pathogenic (recessive)" "" "0000458771" "1" "90" "8" "145668640" "145668640" "subst" "0" "00006" "TONSL_000016" "g.145668640C>T" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "" "0" "" "" "g.144443257C>T" "" "pathogenic (recessive)" "" "0000458772" "1" "90" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "no variant 2nd allele" "Germline" "" "rs75557541" "0" "" "" "g.144435526G>A" "" "pathogenic (recessive)" "" "0000458773" "1" "90" "8" "145669771" "145669771" "dup" "0" "00006" "TONSL_000018" "g.145669771dup" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "25+2dupT" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.144444388dup" "" "pathogenic (recessive)" "" "0000458776" "1" "90" "8" "145659653" "145659653" "dup" "0" "00006" "TONSL_000009" "g.145659653dup" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "3096dupA" "" "Germline" "" "" "0" "" "" "g.144434270dup" "" "pathogenic (recessive)" "" "0000458777" "1" "90" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs75557541" "0" "" "" "g.144435526G>A" "" "pathogenic (recessive)" "" "0000458778" "1" "90" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs755575416" "0" "" "" "g.144435526G>A" "" "pathogenic (recessive)" "" "0000458779" "2" "90" "8" "145668178" "145668178" "subst" "8.1988E-6" "00006" "TONSL_000003" "g.145668178G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs1026265047" "0" "" "" "g.144442795G>A" "" "pathogenic (recessive)" "" "0000458780" "2" "90" "8" "145663900" "145663910" "del" "0" "00006" "TONSL_000004" "g.145663900_145663910del" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "" "0" "" "" "g.144438517_144438527del" "" "pathogenic (recessive)" "" "0000458781" "2" "90" "8" "145657814" "145657814" "subst" "0" "00006" "TONSL_000005" "g.145657814A>G" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144432431A>G" "" "pathogenic (recessive)" "" "0000458782" "2" "90" "8" "145657814" "145657814" "subst" "0" "00006" "TONSL_000005" "g.145657814A>G" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144432431A>G" "" "pathogenic (recessive)" "" "0000458783" "2" "90" "8" "145661169" "145661178" "del" "0" "00006" "TONSL_000006" "g.145661169_145661178delinsCC" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "" "0" "" "" "g.144435786_144435795delinsCC" "" "pathogenic (recessive)" "" "0000458784" "2" "90" "8" "145662171" "145662171" "dup" "0" "00006" "TONSL_000008" "g.145662171dup" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs762903420" "0" "" "" "g.144436788dup" "" "pathogenic (recessive)" "" "0000458785" "2" "90" "8" "145669412" "145669412" "subst" "0" "00006" "TONSL_000010" "g.145669412G>C" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "" "0" "" "" "g.144444029G>C" "" "pathogenic (recessive)" "" "0000458786" "2" "90" "8" "145656474" "145656474" "dup" "0" "00006" "TONSL_000011" "g.145656474dup" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "3796dupA" "" "Germline" "" "rs782733226" "0" "" "" "g.144431091dup" "" "pathogenic (recessive)" "" "0000458787" "2" "90" "8" "145661409" "145661409" "subst" "0" "00006" "TONSL_000012" "g.145661409G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs769100855" "0" "" "" "g.144436026G>A" "" "pathogenic (recessive)" "" "0000458788" "2" "90" "8" "145661997" "145661997" "subst" "1.63508E-5" "00006" "TONSL_000014" "g.145661997G>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "rs755055463" "0" "" "" "g.144436614G>A" "" "pathogenic (recessive)" "" "0000458789" "2" "90" "8" "145667779" "145667779" "subst" "0" "00006" "TONSL_000015" "g.145667779C>T" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144442396C>T" "" "pathogenic (recessive)" "" "0000458790" "2" "90" "8" "145667779" "145667779" "subst" "0" "00006" "TONSL_000015" "g.145667779C>T" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.144442396C>T" "" "pathogenic (recessive)" "" "0000458791" "2" "90" "8" "145662193" "145662193" "subst" "0" "00006" "TONSL_000017" "g.145662193C>A" "" "{DOI:Burrage 2019:10.1016/j.ajhg.2019.01.007}" "" "" "" "Germline" "" "" "0" "" "" "g.144436810C>A" "" "pathogenic (recessive)" "" "0000458792" "1" "90" "8" "145664068" "145664068" "subst" "2.85442E-5" "00006" "TONSL_000019" "g.145664068G>A" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144438685G>A" "" "pathogenic (recessive)" "" "0000458793" "11" "90" "8" "145667637" "145667637" "del" "4.29166E-6" "00006" "TONSL_000021" "g.145667637del" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "737delT" "" "Germline" "" "" "0" "" "" "g.144442254del" "" "pathogenic (recessive)" "" "0000458794" "3" "90" "8" "145662463" "145662463" "subst" "4.09051E-6" "00006" "TONSL_000024" "g.145662463C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144437080C>T" "" "pathogenic (recessive)" "" "0000458795" "11" "90" "8" "145666175" "145666175" "subst" "0" "00006" "TONSL_000025" "g.145666175C>G" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.144440792C>G" "" "pathogenic (recessive)" "" "0000458796" "21" "90" "8" "145668059" "145668059" "subst" "4.08347E-6" "00006" "TONSL_000026" "g.145668059C>A" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.144442676C>A" "" "pathogenic (recessive)" "" "0000458797" "1" "90" "8" "145660499" "145660499" "subst" "0" "00006" "TONSL_000027" "g.145660499G>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144435116G>T" "" "pathogenic (recessive)" "" "0000458798" "1" "90" "8" "145665415" "145665416" "del" "0" "00006" "TONSL_000029" "g.145665415_145665416del" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "1471_1472delTC" "" "Germline" "" "" "0" "" "" "g.144440032_144440033del" "" "pathogenic (recessive)" "" "0000458799" "11" "90" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144440042C>T" "" "pathogenic (recessive)" "" "0000458800" "1" "90" "8" "145668675" "145668675" "del" "0" "00006" "TONSL_000033" "g.145668675del" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "295delT" "" "Germline" "" "" "0" "" "" "g.144443292del" "" "pathogenic (recessive)" "" "0000458801" "11" "90" "8" "145668059" "145668059" "subst" "4.08347E-6" "00006" "TONSL_000034" "g.145668059C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144442676C>T" "" "pathogenic (recessive)" "" "0000458802" "1" "90" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "no variant 2nd allele" "Germline" "" "" "0" "" "" "g.144440042C>T" "" "pathogenic (recessive)" "" "0000458803" "2" "90" "8" "145660489" "145660489" "subst" "0" "00006" "TONSL_000020" "g.145660489C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144435106C>T" "" "pathogenic (recessive)" "" "0000458804" "11" "50" "8" "145667639" "145667639" "subst" "4.24903E-6" "00006" "TONSL_000022" "g.145667639G>C" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144442256G>C" "" "VUS" "" "0000458805" "21" "90" "8" "145663892" "145663892" "subst" "2.44682E-5" "00006" "TONSL_000023" "g.145663892C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144438509C>T" "" "pathogenic (recessive)" "" "0000458807" "2" "90" "8" "145655868" "145655868" "subst" "4.07777E-6" "00006" "TONSL_000028" "g.145655868C>G" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144430485C>G" "" "pathogenic (recessive)" "" "0000458808" "2" "90" "8" "145668117" "145668117" "subst" "0" "00006" "TONSL_000030" "g.145668117C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144442734C>T" "" "pathogenic (recessive)" "" "0000458809" "21" "90" "8" "145669404" "145669404" "subst" "0" "00006" "TONSL_000031" "g.145669404C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144444021C>T" "" "pathogenic (recessive)" "" "0000458810" "11" "50" "8" "145661968" "145661970" "del" "0" "00006" "TONSL_000032" "g.145661968_145661970del" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144436585_144436587del" "" "VUS" "" "0000458811" "2" "90" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.144440042C>T" "" "pathogenic (recessive)" "" "0000458812" "21" "90" "8" "145665606" "145665609" "del" "0" "00006" "TONSL_000035" "g.145665606_145665609del" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "1291-11_1291-14delCCTC" "" "Germline" "" "" "0" "" "" "g.144440223_144440226del" "" "pathogenic (recessive)" "" "0000458813" "21" "90" "8" "145657138" "145658700" "del" "0" "00006" "TONSL_000038" "g.145657138_145658700del" "" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "" "ex23 del" "" "Germline" "yes" "" "0" "" "" "g.144431755_144433317del" "" "pathogenic (recessive)" "" "0000534240" "0" "30" "8" "145656508" "145656508" "subst" "0.000146215" "01943" "TONSL_000039" "g.145656508G>C" "" "" "" "TONSL(NM_013432.5):c.3762C>G (p.T1254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144431125G>C" "" "likely benign" "" "0000534241" "0" "50" "8" "145665804" "145665804" "subst" "4.12351E-6" "01943" "TONSL_000040" "g.145665804T>C" "" "" "" "TONSL(NM_013432.5):c.1220A>G (p.Y407C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144440421T>C" "" "VUS" "" "0000665985" "20" "70" "8" "145665735" "145665735" "subst" "0" "02544" "TONSL_000042" "g.145665735T>C" "" "{PMID:Micale 2020:32959051}" "" "" "" "Germline" "" "rs776042221" "0" "" "" "g.144440352T>C" "" "pathogenic (recessive)" "" "0000665986" "10" "70" "8" "145659479" "145659479" "subst" "3.72856E-5" "02544" "TONSL_000041" "g.145659479A>C" "" "{PMID:Micale 2020:32959051}" "" "" "" "Germline" "" "" "0" "" "" "g.144434096A>C" "" "pathogenic (recessive)" "" "0000861137" "0" "50" "8" "145649235" "145649235" "subst" "0" "01943" "TONSL_000043" "g.145649235C>T" "" "" "" "VPS28(NM_016208.3):c.619G>A (p.D207N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927842" "0" "50" "8" "145658967" "145658967" "subst" "3.67242E-5" "03779" "TONSL_000044" "g.145658967T>C" "" "" "" "" "" "Unknown" "" "rs782371574" "0" "" "" "" "" "VUS" "" "0000927843" "0" "50" "8" "145668544" "145668544" "subst" "0" "03779" "TONSL_000045" "g.145668544G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000952498" "1" "70" "8" "145661748" "145661748" "subst" "0" "04607" "TONSL_000046" "g.145661748C>T" "0.00001228" "" "" "" "" "Germline" "yes" "rs546911071" "0" "" "" "g.144436365C>T" "RCV001935754.6" "pathogenic (recessive)" "" "0000952499" "2" "90" "8" "145662171" "145662171" "dup" "0" "04607" "TONSL_000008" "g.145662171dup" "0.000004029" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144436788dup" "" "pathogenic (recessive)" "" "0000997053" "0" "50" "8" "145657704" "145657704" "del" "0" "01804" "TONSL_000047" "g.145657704del" "" "" "" "TONSL(NM_013432.4):c.3700delG (p.(Asp1234fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997054" "0" "30" "8" "145661055" "145661055" "subst" "0.000153522" "01804" "TONSL_000048" "g.145661055C>G" "" "" "" "TONSL(NM_013432.4):c.2761G>C (p.(Ala921Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997055" "0" "50" "8" "145666427" "145666427" "subst" "3.66151E-5" "01804" "TONSL_000049" "g.145666427C>T" "" "" "" "TONSL(NM_013432.4):c.933G>A (p.(Met311Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997056" "0" "50" "8" "145669264" "145669264" "subst" "0" "01804" "TONSL_000050" "g.145669264C>T" "" "" "" "TONSL(NM_013432.4):c.264+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036848" "0" "50" "8" "145657716" "145657716" "subst" "0.00019113" "01804" "TONSL_000051" "g.145657716G>A" "" "" "" "TONSL(NM_013432.5):c.3687C>T (p.(Gly1229=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036849" "0" "50" "8" "145661528" "145661528" "subst" "0" "01804" "TONSL_000052" "g.145661528G>T" "" "" "" "TONSL(NM_013432.5):c.2288C>A (p.(Ser763*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036850" "0" "30" "8" "145661805" "145661805" "subst" "2.31865E-5" "01804" "TONSL_000053" "g.145661805T>C" "" "" "" "TONSL(NM_013432.5):c.2015-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036851" "0" "50" "8" "145662262" "145662262" "subst" "2.47862E-5" "01804" "TONSL_000054" "g.145662262C>T" "" "" "" "TONSL(NM_013432.5):c.1768G>A (p.(Asp590Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036852" "0" "30" "8" "145663876" "145663876" "subst" "0.000449236" "01804" "TONSL_000055" "g.145663876C>T" "" "" "" "TONSL(NM_013432.5):c.1631G>A (p.(Arg544His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036853" "0" "50" "8" "145665472" "145665480" "del" "0" "01804" "TONSL_000056" "g.145665472_145665480del" "" "" "" "TONSL(NM_013432.5):c.1415_1423del (p.(Glu472_Ala474del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036854" "0" "30" "8" "145667648" "145667648" "subst" "0.000521429" "01804" "TONSL_000057" "g.145667648G>A" "" "" "" "TONSL(NM_013432.5):c.726C>T (p.(Ser242=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036855" "0" "30" "8" "145669668" "145669668" "subst" "0" "01804" "TONSL_000058" "g.145669668G>A" "" "" "" "TONSL(NM_013432.5):c.26-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053167" "0" "30" "8" "145656453" "145656453" "subst" "0" "01804" "TONSL_000059" "g.145656453G>A" "" "" "" "TONSL(NM_013432.5):c.3809+8C>T" "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 TONSL ## Count = 72 "{{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}}" "0000408226" "00021634" "90" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0000458762" "00021634" "90" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0000458763" "00021634" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0000458764" "00021634" "90" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0000458765" "00021634" "90" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0000458766" "00021634" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0000458767" "00021634" "90" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Gln713*)" "" "0000458768" "00021634" "90" "2137" "0" "2137" "0" "c.2137C>T" "r.(?)" "p.(Gln713*)" "" "0000458769" "00021634" "90" "866" "-1" "866" "-1" "c.866-1G>C" "r.spl" "p.?" "" "0000458770" "00021634" "90" "866" "-1" "866" "-1" "c.866-1G>C" "r.spl" "p.?" "" "0000458771" "00021634" "90" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Trp110*)" "" "0000458772" "00021634" "90" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0000458773" "00021634" "90" "25" "2" "25" "2" "c.25+2dup" "r.spl" "p.?" "" "0000458776" "00021634" "90" "3096" "0" "3096" "0" "c.3096dup" "r.(?)" "p.(Gln1033Thrfs*57)" "" "0000458777" "00021634" "90" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0000458778" "00021634" "90" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0000458779" "00021634" "90" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Gln154*)" "" "0000458780" "00021634" "90" "1602" "0" "1612" "0" "c.1602_1612del" "r.(?)" "p.(Ala536Glyfs*17)" "" "0000458781" "00021634" "90" "3589" "0" "3589" "0" "c.3589T>C" "r.(?)" "p.(Ser1197Pro)" "" "0000458782" "00021634" "90" "3589" "0" "3589" "0" "c.3589T>C" "r.(?)" "p.(Ser1197Pro)" "" "0000458783" "00021634" "90" "2638" "0" "2647" "0" "c.2638_2647delinsGG" "r.(?)" "p.(Arg880Glyfs*10)" "" "0000458784" "00021634" "90" "1864" "0" "1864" "0" "c.1864dup" "r.(?)" "p.(Ala622Glyfs*67)" "" "0000458785" "00021634" "90" "122" "-5" "122" "-5" "c.122-5C>G" "r.spl?" "p.?" "" "0000458786" "00021634" "90" "3796" "0" "3796" "0" "c.3796dup" "r.(?)" "p.(Arg1266Lysfs*23)" "" "0000458787" "00021634" "90" "2407" "0" "2407" "0" "c.2407C>T" "r.(?)" "p.(Gln803*)" "" "0000458788" "00021634" "90" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Thr653Met)" "" "0000458789" "00021634" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Glu199Lys)" "" "0000458790" "00021634" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Glu199Lys)" "" "0000458791" "00021634" "90" "1837" "0" "1837" "0" "c.1837G>T" "r.(?)" "p.(Val613Leu)" "" "0000458792" "00021634" "90" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Gln511*)" "" "0000458793" "00021634" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Val246Glyfs*20)" "" "0000458794" "00021634" "90" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "0000458795" "00021634" "90" "1090" "0" "1090" "0" "c.1090G>C" "r.(?)" "p.(Asp364His)" "" "0000458796" "00021634" "90" "578" "1" "578" "1" "c.578+1G>T" "r.spl" "p.?" "" "0000458797" "00021634" "90" "2907" "0" "2907" "0" "c.2907C>A" "r.(?)" "p.(Tyr969*)" "" "0000458798" "00021634" "90" "1471" "0" "1472" "0" "c.1471_1472del" "r.(?)" "p.(Ser491Argfs*65)" "" "0000458799" "00021634" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0000458800" "00021634" "90" "295" "0" "295" "0" "c.295del" "r.(?)" "p.(Ser99Profs*59)" "" "0000458801" "00021634" "90" "578" "1" "578" "1" "c.578+1G>A" "r.449_578del" "p.Thr151Argfs*42" "" "0000458802" "00021634" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0000458803" "00021634" "90" "2917" "0" "2917" "0" "c.2917G>A" "r.(?)" "p.(Gly973Arg)" "" "0000458804" "00021634" "50" "735" "0" "735" "0" "c.735C>G" "r.(?)" "p.(Cys245Trp)" "" "0000458805" "00021634" "90" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Glu539Lys)" "" "0000458807" "00021634" "90" "3862" "0" "3862" "0" "c.3862G>C" "r.(?)" "p.(Glu1288Gln)" "" "0000458808" "00021634" "90" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Ser174Asn)" "" "0000458809" "00021634" "90" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42His)" "" "0000458810" "00021634" "50" "1989" "0" "1991" "0" "c.1989_1991del" "r.(?)" "p.(Leu664del)" "" "0000458811" "00021634" "90" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0000458812" "00021634" "90" "1291" "-14" "1291" "-11" "c.1291-14_1291-11del" "r.[1291_1323del,1290_1291ins[1291-37_1291-15;ugcuccucag]]" "p.(=)" "10i" "0000458813" "00021634" "90" "3559" "287" "3735" "546" "c.3559+287_3735+546del" "r.?" "p.(Asp1187Glyfs*21)" "22i_23i" "0000534240" "00021634" "30" "3762" "0" "3762" "0" "c.3762C>G" "r.(?)" "p.(Thr1254=)" "" "0000534241" "00021634" "50" "1220" "0" "1220" "0" "c.1220A>G" "r.(?)" "p.(Tyr407Cys)" "" "0000665985" "00021634" "70" "1289" "0" "1289" "0" "c.1289A>G" "r.(?)" "p.(Gln430Arg)" "10" "0000665986" "00021634" "70" "3269" "0" "3269" "0" "c.3269T>G" "r.(?)" "p.(Leu1090Arg)" "21" "0000861137" "00021634" "50" "9428" "0" "9428" "0" "c.*5291G>A" "r.(=)" "p.(=)" "" "0000927842" "00021634" "50" "3559" "4" "3559" "4" "c.3559+4A>G" "r.(?)" "p.(?)" "" "0000927843" "00021634" "50" "425" "0" "425" "0" "c.425C>G" "r.(?)" "p.(Ala142Gly)" "" "0000952498" "00021634" "70" "2068" "0" "2068" "0" "c.2068G>A" "r.(?)" "p.(Glu690Lys)" "" "0000952499" "00021634" "90" "1864" "0" "1864" "0" "c.1864dup" "r.(?)" "p.(Ala622Glyfs*67)" "" "0000997053" "00021634" "50" "3700" "0" "3700" "0" "c.3700del" "r.(?)" "p.(Asp1234Thrfs*17)" "" "0000997054" "00021634" "30" "2761" "0" "2761" "0" "c.2761G>C" "r.(?)" "p.(Ala921Pro)" "" "0000997055" "00021634" "50" "933" "0" "933" "0" "c.933G>A" "r.(?)" "p.(Met311Ile)" "" "0000997056" "00021634" "50" "264" "1" "264" "1" "c.264+1G>A" "r.spl?" "p.?" "" "0001036848" "00021634" "50" "3687" "0" "3687" "0" "c.3687C>T" "r.(?)" "p.(=)" "" "0001036849" "00021634" "50" "2288" "0" "2288" "0" "c.2288C>A" "r.(?)" "p.(Ser763*)" "" "0001036850" "00021634" "30" "2015" "-4" "2015" "-4" "c.2015-4A>G" "r.spl?" "p.?" "" "0001036851" "00021634" "50" "1768" "0" "1768" "0" "c.1768G>A" "r.(?)" "p.(Asp590Asn)" "" "0001036852" "00021634" "30" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Arg544His)" "" "0001036853" "00021634" "50" "1415" "0" "1423" "0" "c.1415_1423del" "r.(?)" "p.(Glu472_Ala474del)" "" "0001036854" "00021634" "30" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(=)" "" "0001036855" "00021634" "30" "26" "-10" "26" "-10" "c.26-10C>T" "r.(=)" "p.(=)" "" "0001053167" "00021634" "30" "3809" "8" "3809" "8" "c.3809+8C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 54 "{{screeningid}}" "{{variantid}}" "0000184218" "0000408226" "0000184218" "0000458779" "0000226512" "0000458762" "0000226512" "0000458813" "0000226513" "0000458763" "0000226513" "0000458780" "0000226514" "0000458764" "0000226514" "0000458781" "0000226515" "0000458765" "0000226515" "0000458782" "0000226516" "0000458766" "0000226516" "0000458783" "0000226517" "0000458767" "0000226517" "0000458784" "0000226518" "0000458768" "0000226518" "0000458788" "0000226519" "0000458769" "0000226519" "0000458789" "0000226520" "0000458770" "0000226520" "0000458790" "0000226521" "0000458771" "0000226521" "0000458791" "0000226522" "0000458772" "0000226523" "0000458773" "0000226526" "0000458776" "0000226526" "0000458785" "0000226527" "0000458777" "0000226527" "0000458786" "0000226528" "0000458778" "0000226528" "0000458787" "0000226529" "0000458792" "0000226529" "0000458803" "0000226530" "0000458793" "0000226530" "0000458804" "0000226530" "0000458805" "0000226531" "0000458794" "0000226532" "0000458795" "0000226533" "0000458796" "0000226534" "0000458797" "0000226534" "0000458807" "0000226535" "0000458798" "0000226535" "0000458808" "0000226536" "0000458799" "0000226536" "0000458809" "0000226536" "0000458810" "0000226537" "0000458800" "0000226537" "0000458811" "0000226538" "0000458801" "0000226538" "0000458812" "0000226539" "0000458802" "0000302642" "0000665985" "0000302642" "0000665986" "0000445487" "0000952498" "0000445487" "0000952499"