### 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" "00006" "2025-11-20 19:27:02" ## 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 = 3 "{{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" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## 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 = 43 "{{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" "" "" "" "" "00469805" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "India" "" "0" "" "" "" "" "00469806" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "Pat08;?" "00469807" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "India" "" "0" "" "" "" "Pat09;?" "00469808" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "India" "" "0" "" "" "" "Pat10;?" "00469896" "" "" "" "2" "" "00006" "{PMID:Chang 2019:30773278}" "2-generation family, 1 affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "Korea" "" "0" "" "" "" "Fam01Pat1" "00469897" "" "" "00469896" "1" "" "00006" "{PMID:Chang 2019:30773278}" "brother" "M" "no" "Korea" "" "0" "" "" "" "Fam01Pat2" "00469898" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "M" "no" "Korea" "" "0" "" "" "" "Pat02" "00469899" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "M" "no" "Korea" "" "0" "" "" "" "Pat03" "00469900" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "M" "yes" "Brazil" "" "0" "" "" "African;Europe" "Pat04" "00469901" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "F" "no" "Korea" "" "0" "" "" "" "Pat05" "00469902" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "F" "no" "Finland" "" "0" "" "" "" "Pat06" "00469903" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "M" "no" "Korea" "" "0" "" "" "" "Pat07" "00469904" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "F" "no" "Korea" "" "0" "" "" "" "Pat11" "00469905" "" "" "" "1" "" "00006" "{PMID:Chang 2019:30773278}" "" "F" "no" "India" "" "0" "" "" "" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 43 "{{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" "00469805" "05517" "00469806" "05517" "00469807" "05517" "00469808" "05517" "00469896" "05517" "00469897" "05517" "00469898" "05517" "00469899" "05517" "00469900" "05517" "00469901" "05517" "00469902" "05517" "00469903" "05517" "00469904" "05517" "00469905" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05369, 05476, 05517 ## Count = 43 "{{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," "0000354950" "05517" "00469805" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "SEMDSP" "skeletal dysplasia" "0000354951" "05517" "00469806" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., short stature, height 120cm (SD-4); height 120cm (SD-4); facial dysmorphism (thick eyebrows, upslant palpebral fissures, flat nasal bridge, bulbous nose, anteverted nares); no cognitive impairment; brachymetacarpy, severe metaphyseal, vertebral anomalies" "13y" "" "short stature" "" "" "" "" "SEMDSP" "SPONASTRIME dysplasia" "0000354952" "05517" "00469807" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., birth short limbs, short\r\ntrunk; short stature, height 119cm (SD-7); height 119cm (SD-7); facial dysmorphism (coarse facial features, maxillary hypoplasia, flat nasal\r\nbridge, anteverted nares, bulbous nose); no cognitive impairment; thickening skull,\r\nbrachymetacarpy, vertebral deformities, epiphyseal/metaphyseal abnormalities" "14y" "" "short stature" "" "" "" "" "SEMDSP" "skeletal dysplasia" "0000354953" "05517" "00469808" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., short stature, bilateral windswept deformity., height 93cm (SD-10); height 93cm (SD-10); facial dysmorphism (hypertelorism, flat nasal bridge, bilateral low set posteriorly rotated pinna, anteverted nares, bulbous nose); no cognitive impairment; brachydactyly, hyper elasticity fingers/toes, joint laxity" "11y" "" "short stature, limb deformity" "" "" "" "" "SEMDSP" "skeletal dysplasia" "0000355041" "05517" "00469896" "00006" "Familial, autosomal recessive" "17y5m" "see paper; ..., short stature, height 104.1cm (SD-3.6); height 124.4cm (SD-6.8); facial dysmorphism; no cognitive impairment; short dental roots; delayed bone age; metaphyseal abnormalities" "8y5m" "" "short stature" "" "" "" "" "SEDCJD" "short stature" "0000355042" "05517" "00469897" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., short stature, height 93.4cm (SD-4.7); height 143.5cm (SD-4.8); facial dysmorphism; no cognitive impairment; short dental roots; delayed bone age; metaphyseal abnormalities" "6y" "" "short stature" "" "" "" "" "SEDCJD" "short stature" "0000355043" "05517" "00469898" "00006" "Familial, autosomal recessive" "5y7m" "see paper; ..., short stature, height 47.9cm (SD-4.9); 4m-hypothyroidism; 5m-jerky nystagmus; height 82.6cm (SD-6.0); facial dysmorphism (midfacial hypoplasia, depressed nasal root, prognathism, epicanthal folds); no cognitive impairment; hypothyroidism; nystagmus; hypospadias; airway narrowing (glottic narrowing, diffuse tracheal narrowing)" "2m" "" "short stature" "" "" "" "" "SEDCJD" "short stature" "0000355044" "05517" "00469899" "00006" "Familial, autosomal recessive" "" "see paper; ..., radiographic abnormality knee, height 145.2cm (SD-0.9); facial dysmorphism; no cognitive impairment;" "13y" "" "radiographic abnormality knee" "" "" "" "" "SEDCJD" "radiographic abnormality knee" "0000355045" "05517" "00469900" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., short stature, height 76cm (SD-4.0); height 122cm (SD-4.6); facial dysmorphism; borderline cognitive impairment; <1y-recurrent pneumonia; short dental roots" "2y2m" "" "short stature" "" "" "" "" "SEDCJD" "short stature" "0000355046" "05517" "00469901" "00006" "Familial, autosomal recessive" "6y" "see paper; ..., short stature, height 74cm (SD-4.5); height 98.8cm (SD-3.4); facial dysmorphism; no cognitive impairment; hypothyroidism; <5y-recurrent pneumonia; precocious puberty" "2y7m" "" "short stature" "" "" "" "" "SEDCJD" "short stature" "0000355047" "05517" "00469902" "00006" "Familial, autosomal recessive" "12y6m" "see paper; ..., short stature, height 40cm (SD-5.6); height 85.8cm (SD-10.4); facial dysmorphism; no cognitive impairment; cataracts; cerebro-vascular aneurysm rupture; weak voice" "1d" "" "short stature" "" "" "" "" "SEDCJD" "short stature" "0000355048" "05517" "00469903" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., neck/shoulder pain, height 136cm (SD-6.2); height 136cm (SD-6.2); facial dysmorphism; no cognitive impairment; Arnold-Chiari malformation; cataracts" "36y" "" "neck/shoulder pain" "" "" "" "" "SEDCJD" "neck/shoulder pain" "0000355049" "05517" "00469904" "00006" "Familial, autosomal recessive" "4y2m" "see paper; ..., short stature, height 73.6cm (SD-5.6); height 80.6cm (SD-5.8); facial dysmorphism; no cognitive impairment; joint laxity; hip subluxation; airway narrowing (glottic narrowing, diffuse tracheal narrowing)" "3y5m" "" "short stature" "" "" "" "" "SEDCJD" "short stature" "0000355050" "05517" "00469905" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., short stature, height 53cm (SD-10); facial dysmorphism; no cognitive impairment;" "1y9m" "" "short stature" "" "" "" "" "SEDCJD" "short stature" ## Screenings ## Do not remove or alter this header ## ## Count = 43 "{{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" "" "0000471473" "00469805" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471474" "00469806" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471475" "00469807" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471476" "00469808" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471564" "00469896" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "quad WES" "0000471565" "00469897" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000471566" "00469898" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000471567" "00469899" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000471568" "00469900" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000471569" "00469901" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000471570" "00469902" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000471571" "00469903" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471572" "00469904" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000471573" "00469905" "1" "00006" "00006" "2025-11-20 19:27:00" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{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" "0000471572" "TONSL" "0000471573" "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 = 97 "{{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" "" "0001059621" "3" "70" "8" "145669414" "145669414" "subst" "0" "00006" "TONSL_000060" "g.145669414G>C" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.144444031G>C" "SCV002507143.1" "likely pathogenic (recessive)" "" "0001059622" "11" "70" "8" "145668117" "145668117" "subst" "0" "00006" "TONSL_000030" "g.145668117C>T" "" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.144442734C>T" "SCV002053971" "likely pathogenic (recessive)" "" "0001059623" "21" "70" "8" "145669404" "145669404" "subst" "0" "00006" "TONSL_000031" "g.145669404C>T" "" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.144444021C>T" "SCV002053971.1" "likely pathogenic (recessive)" "" "0001059624" "21" "70" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.144440042C>T" "SCV002053974.1" "likely pathogenic (recessive)" "" "0001059711" "21" "70" "8" "145665415" "145665416" "del" "0" "00006" "TONSL_000029" "g.145665415_145665416del" "" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "" "1471_1472delTC" "" "Germline" "" "" "0" "" "" "g.144440032_144440033del" "SCV002053972.1" "likely pathogenic (recessive)" "" "0001059712" "11" "70" "8" "145661968" "145661970" "del" "0" "00006" "TONSL_000032" "g.145661968_145661970del" "" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.144436585_144436587del" "SCV002053972.1" "likely pathogenic (recessive)" "" "0001059713" "11" "70" "8" "145668675" "145668675" "del" "0" "00006" "TONSL_000033" "g.145668675del" "" "{PMID:Chang 2019:30773278}, {PMID:Jacob 2025:39706863}" "" "295delT" "" "Germline" "" "" "0" "" "" "g.144443292del" "SCV002053973.1" "likely pathogenic (recessive)" "" "0001059768" "11" "50" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144440042C>T" "" "VUS" "" "0001059770" "21" "70" "8" "145657138" "145658700" "del" "0" "00006" "TONSL_000038" "g.145657138_145658700del" "" "{PMID:Chang 2019:30773278}" "" "del ex23, g.145657122_145658684del" "" "Germline" "" "" "0" "" "" "g.144431755_144433317del" "" "likely pathogenic (recessive)" "" "0001059771" "21" "70" "8" "145657138" "145658700" "del" "0" "00006" "TONSL_000038" "g.145657138_145658700del" "" "{PMID:Chang 2019:30773278}" "" "del ex23, g.145657122_145658684del" "" "Germline" "" "" "0" "" "" "g.144431755_144433317del" "" "likely pathogenic (recessive)" "" "0001059772" "1" "70" "8" "145664068" "145664068" "subst" "2.85442E-5" "00006" "TONSL_000019" "g.145664068G>A" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144438685G>A" "" "likely pathogenic (recessive)" "" "0001059773" "11" "50" "8" "145667639" "145667639" "subst" "4.24903E-6" "00006" "TONSL_000022" "g.145667639G>C" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144442256G>C" "" "VUS" "" "0001059774" "3" "70" "8" "145662463" "145662463" "subst" "4.09051E-6" "00006" "TONSL_000024" "g.145662463C>T" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144437080C>T" "" "likely pathogenic (recessive)" "" "0001059775" "1" "70" "8" "145666175" "145666175" "subst" "0" "00006" "TONSL_000025" "g.145666175C>G" "" "{PMID:Chang 2019:30773278}" "" "" "no variant 2nd chromosome detected" "Germline" "" "" "0" "" "" "g.144440792C>G" "" "likely pathogenic (recessive)" "" "0001059776" "1" "70" "8" "145668059" "145668059" "subst" "4.08347E-6" "00006" "TONSL_000026" "g.145668059C>A" "" "{PMID:Chang 2019:30773278}" "" "" "no variant 2nd chromosome detected" "Germline" "" "" "0" "" "" "g.144442676C>A" "" "likely pathogenic (recessive)" "" "0001059777" "1" "70" "8" "145660499" "145660499" "subst" "0" "00006" "TONSL_000027" "g.145660499G>T" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144435116G>T" "" "likely pathogenic (recessive)" "" "0001059778" "11" "70" "8" "145668059" "145668059" "subst" "4.08347E-6" "00006" "TONSL_000034" "g.145668059C>T" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144442676C>T" "" "likely pathogenic (recessive)" "" "0001059779" "1" "70" "8" "145665425" "145665425" "subst" "8.76124E-5" "00006" "TONSL_000036" "g.145665425C>T" "" "{PMID:Chang 2019:30773278}" "" "" "no variant 2nd chromosome detected" "Germline" "" "" "0" "" "" "g.144440042C>T" "" "likely pathogenic (recessive)" "" "0001059780" "11" "70" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144435526G>A" "" "likely pathogenic (recessive)" "" "0001059781" "11" "70" "8" "145660909" "145660909" "subst" "6.63526E-6" "00006" "TONSL_000037" "g.145660909G>A" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144435526G>A" "" "likely pathogenic (recessive)" "" "0001059782" "2" "70" "8" "145660489" "145660489" "subst" "0" "00006" "TONSL_000020" "g.145660489C>T" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144435106C>T" "" "likely pathogenic (recessive)" "" "0001059783" "21" "70" "8" "145663892" "145663892" "subst" "2.44682E-5" "00006" "TONSL_000023" "g.145663892C>T" "" "{PMID:Chang 2019:30773278}" "" "" "" "De novo" "" "" "0" "" "" "g.144438509C>T" "" "likely pathogenic (recessive)" "" "0001059784" "2" "70" "8" "145655868" "145655868" "subst" "4.07777E-6" "00006" "TONSL_000028" "g.145655868C>G" "" "{PMID:Chang 2019:30773278}" "" "" "" "Germline" "" "" "0" "" "" "g.144430485C>G" "" "likely pathogenic (recessive)" "" "0001059785" "21" "70" "8" "145665606" "145665609" "del" "0" "00006" "TONSL_000035" "g.145665606_145665609del" "" "{PMID:Chang 2019:30773278}" "" "1291-11_1291-14delCCTC" "" "Germline" "" "" "0" "" "" "g.144440223_144440226del" "" "likely pathogenic (recessive)" "" "0001059786" "11" "70" "8" "145667637" "145667637" "del" "4.29166E-6" "00006" "TONSL_000021" "g.145667637del" "" "{PMID:Chang 2019:30773278}" "" "737delT" "" "Germline" "" "" "0" "" "" "g.144442254del" "" "likely pathogenic (recessive)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TONSL ## Count = 97 "{{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.(=)" "" "0001059621" "00021634" "70" "122" "-7" "122" "-7" "c.122-7C>G" "r.spl" "p.?" "" "0001059622" "00021634" "70" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Ser174Asn)" "" "0001059623" "00021634" "70" "125" "0" "125" "0" "c.125G>A" "r.(?)" "p.(Arg42His)" "" "0001059624" "00021634" "70" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0001059711" "00021634" "70" "1471" "0" "1472" "0" "c.1471_1472del" "r.(?)" "p.(Ser491ArgfsTer65)" "" "0001059712" "00021634" "70" "1989" "0" "1991" "0" "c.1989_1991del" "r.(?)" "p.(Leu664del)" "" "0001059713" "00021634" "70" "295" "0" "295" "0" "c.295del" "r.(?)" "p.(Ser99ProfsTer59)" "" "0001059768" "00021634" "50" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0001059770" "00021634" "70" "3559" "287" "3735" "546" "c.3559+287_3735+546del" "r.3560_3735del" "p.Asp1187GlyfsTer21" "22i_23i" "0001059771" "00021634" "70" "3559" "287" "3735" "546" "c.3559+287_3735+546del" "r.3560_3735del" "p.Asp1187GlyfsTer21" "22i_23i" "0001059772" "00021634" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Gln511Ter)" "" "0001059773" "00021634" "50" "735" "0" "735" "0" "c.735C>G" "r.(?)" "p.(Cys245Trp)" "" "0001059774" "00021634" "70" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "0001059775" "00021634" "70" "1090" "0" "1090" "0" "c.1090G>C" "r.(?)" "p.(Asp364His)" "" "0001059776" "00021634" "70" "578" "1" "578" "1" "c.578+1G>T" "r.(?)" "p.?" "" "0001059777" "00021634" "70" "2907" "0" "2907" "0" "c.2907C>A" "r.(?)" "p.(Tyr969Ter)" "" "0001059778" "00021634" "70" "578" "1" "578" "1" "c.578+1G>A" "r.449_578del" "p.Thr151ArgfsTer42" "" "0001059779" "00021634" "70" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Glu487Lys)" "" "0001059780" "00021634" "70" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0001059781" "00021634" "70" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Trp)" "" "0001059782" "00021634" "70" "2917" "0" "2917" "0" "c.2917G>A" "r.(?)" "p.(Gly973Arg)" "" "0001059783" "00021634" "70" "1615" "0" "1615" "0" "c.1615G>A" "r.(?)" "p.(Glu539Lys)" "" "0001059784" "00021634" "70" "3862" "0" "3862" "0" "c.3862G>C" "r.(?)" "p.(Glu1288Gln)" "" "0001059785" "00021634" "70" "1291" "-14" "1291" "-11" "c.1291-14_1291-11del" "r.[1291_1323del,1290_1291ins[1291-37_1291-15;1291-10_1291-1]]" "p.[Arg431_Gln441del,Arg431ProfsTer6]" "" "0001059786" "00021634" "70" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Val246GlyfsTer20)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 79 "{{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" "0000471473" "0001059621" "0000471474" "0001059622" "0000471474" "0001059711" "0000471475" "0001059623" "0000471475" "0001059712" "0000471475" "0001059768" "0000471476" "0001059624" "0000471476" "0001059713" "0000471564" "0001059770" "0000471564" "0001059780" "0000471565" "0001059771" "0000471565" "0001059781" "0000471566" "0001059772" "0000471566" "0001059782" "0000471567" "0001059773" "0000471567" "0001059783" "0000471567" "0001059786" "0000471568" "0001059774" "0000471569" "0001059775" "0000471570" "0001059776" "0000471571" "0001059777" "0000471571" "0001059784" "0000471572" "0001059778" "0000471572" "0001059785" "0000471573" "0001059779"