### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TBCK) # 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}}" "TBCK" "TBC1 domain containing kinase" "4" "q24" "unknown" "NC_000004.11" "UD_132465540354" "" "http://www.LOVD.nl/TBCK" "" "1" "28261" "93627" "616899" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TBCK_NM_001163435.1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-18 17:56:34" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024132" "TBCK" "transcript variant 1" "004" "NM_001163435.1" "" "NP_001156907.1" "" "" "" "-365" "3176" "2682" "107237423" "106967233" "00006" "2016-05-17 09:58:03" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00787" "-" "encephalopathy, neonatal, severe" "XLR" "300673" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05279" "IHPRF3" "hypotonia, infantile, with psychomotor retardation and characteristic facies, type 3 (IHPRF-3)" "AR" "616900" "" "" "" "00006" "2017-06-12 08:30:51" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TBCK" "05279" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00016586" "" "" "" "1" "" "00705" "{PMID:Xia 2014:24791903}" "2-generation family, 1 affected" "F" "no" "(United States)" "" "0" "" "" "European" "" "00065095" "" "" "" "1" "" "01606" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "family, affected sister/brother, Pat9-2" "M" "" "Mexico;Puerto Rico" ">02y" "0" "" "" "" "27040691-Pat9-2" "00065096" "" "" "" "1" "" "01604" "{PMID:Bhoj 2016:27040691}, {DOI:Bohj 2016:10.1016/j.ajhg.2016.03.016}" "family, 2-affected sister/brother, Pat1-1" "M" "yes" "" "05y" "0" "" "" "Saudi" "" "00065097" "" "" "" "1" "" "01606" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "family, affected sister/brother, Pat9-1" "F" "" "Mexico;Puerto Rico" ">10y" "0" "" "" "" "27040691-Pat9-1" "00065098" "" "" "" "1" "" "01604" "{PMID:Bhoj 2016:27040691}, {DOI:Bohj:10.1016/j.ajhg.2016.03.016}" "family, 2-affected sister/brother, Pat1-2" "F" "yes" "" ">11y" "0" "" "" "Saudi" "" "00065099" "" "" "" "1" "" "01604" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "family, Pat2-1" "M" "no" "" ">05y" "0" "" "" "Syrian" "" "00065100" "" "" "" "1" "" "01606" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "F" "" "Dominican Republic;Puerto Rico" ">12y" "0" "" "" "" "27040691-Pat8-1" "00065101" "" "" "" "1" "" "01604" "{PMID:Bhoj 2016:27040691}, {DOI:Bohj 2016:10.1016/j.ajhg.2016.03.016}" "family, Pat3-1" "M" "yes" "" ">11y" "0" "" "" "Pakistani" "" "00065102" "" "" "" "1" "" "01604" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "family, 2-affected sisters, Pat4-1" "F" "no" "" ">04y" "0" "" "" "European, mixed" "" "00065103" "" "" "" "1" "" "01606" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "M" "" "Palestine" ">06y" "0" "" "" "" "27040691-Pat7-1" "00065104" "" "" "" "1" "" "01604" "{PMID:Bhoj 2016:27040691}, {DOI:Bohj 2016:10.1016/j.ajhg.2016.03.016}" "family, 2-affected sisters, Pat4-2" "F" "no" "" ">02y" "0" "" "" "European, mixed" "" "00065105" "" "" "" "1" "" "01606" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "family, affected sister/brother, Pat6-2" "F" "" "Algeria" ">03y" "0" "" "" "" "27040691-Pat6-2" "00065106" "" "" "" "1" "" "01606" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "family, affected sister/brother, Pat6-1" "M" "" "Algeria" ">12y" "0" "" "" "" "27040691-Pat6-1" "00065107" "" "" "" "1" "" "01606" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "F" "" "(United States)" ">10y" "0" "" "" "Hispanic" "27040691-Pat5-1" "00065108" "" "" "" "1" "" "01604" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "family, mother and sister with cleft lip and palate, sister with arrhythmia, PatA-ll-1" "M" "no" "" ">14y" "0" "" "" "Puerto Rican" "" "00065111" "" "" "" "1" "" "01604" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "4-generation family, two affected cousins, unaffected parents; PatB-IV-4, two affected brothers with hematologic disorder" "F" "yes" "" ">04y" "0" "" "" "Lebanese" "" "00065114" "" "" "" "1" "" "01604" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "4-generation family, two affected cousins, unaffected parents, PatB-IV-6" "F" "yes" "" "10y" "0" "" "" "Lebanese" "" "00065115" "" "" "" "2" "" "01604" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "family, similarly affected sister (deceased), unaffected heterozygous carrier parents" "M" "yes" "" ">02y" "0" "" "" "Egyptian" "" "00065116" "" "" "" "1" "" "01604" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "no family history, unaffected heterozygous carrier parents" "M" "no" "" ">14y" "0" "" "" "Puerto Rican" "" "00225694" "" "" "" "6" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "4-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam10DG1670" "00276034" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00288216" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat26" "00293511" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306775" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00361670" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "10DG1670" "00363892" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00454830" "" "" "" "1" "" "00006" "{PMID:Dekker 2023:36669495}" "" "F" "no" "Netherlands" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00016586" "00198" "00065095" "00139" "00065096" "00139" "00065097" "00139" "00065098" "00139" "00065099" "00139" "00065100" "00139" "00065101" "00139" "00065102" "00139" "00065103" "00139" "00065104" "00139" "00065105" "00139" "00065106" "00139" "00065107" "00139" "00065108" "00787" "00065111" "00787" "00065114" "00787" "00065115" "00787" "00065116" "00787" "00225694" "00198" "00276034" "00198" "00288216" "00198" "00293511" "00198" "00306775" "00198" "00361670" "00139" "00363892" "00198" "00454830" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00787, 05279, 05611 ## Count = 26 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000015212" "00198" "00016586" "00705" "Isolated (sporadic)" "01y06m" "18m-no words, no sitting, hypotonia, failure to thrive, low-set ears, esotropia, upslanting palpebral fissures, micrognathia, flat nasal bridge, laryngomalacia, obstructive sleep apnea" "" "" "" "" "" "" "" "" "" "" "" "0000051199" "00139" "00065096" "01604" "Familial, autosomal recessive" "11y" "sloped forehead (HP:?), bulbous nose (HP:0000414), tented upper lip (HP:0010804), upward slant of palpebral fissures (HP:0000582), abnormal eye movements (HP:0000496), asthma (HP:0002099), eczema (HP:0000964), diffuse brain atrophy (HP:0002283), abnormal white-matter signal intensity (HP:?), no sitting (HP:?), no ventilator dependence (-HP:0005946); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000051202" "00139" "00065098" "01604" "Familial, autosomal recessive" "11y" "tented upper lip (HP:0010804), sloped forehead (HP:?), bulbous nose (HP:0000414), hypothyroidism (HP:0000821), recurrent candidiasis (HP:0012204), diffuse brain atrophy (HP:0002283), no ventilator dependence (-HP:0005946); severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051203" "00139" "00065099" "01604" "Familial, autosomal recessive" "05y" "Macrocephaly (HP:0000256), strabismus (HP:0000486), nystagmus (HP:0000639), periventricular leukomalacia (HP:0006970), posterior thinning of the corpus callosum and braintstem (HP:?), ex vacuo dilation of the vertricles (HP; ?), ventilator dependence (HP:0005946); birth premature contractions; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051204" "00139" "00065100" "01606" "Familial, autosomal recessive" "12y" "tracheostomy ventilator dependence (HP:0004887), no regression (-HP:0002376), severe hypotonia (HP:0001252), reduced reflexes (HP:0001315), seizures (HP:0001250), abnormal white matter intensity (HP:0012696), very coarse facial features (HP:0000280), macrocephaly (HP:0000256), bushy eyebrows (HP:0000574), Macroglossia (HP:0000158), severe scoliosis (HP:0002650), neurogenic bladder (HP:0000011), hyperthyroidism (HP:0000836); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); poor speech (HP:0002465)" "" "" "" "" "" "" "" "" "" "" "" "0000051205" "00139" "00065095" "01606" "Familial, autosomal recessive" "02y" "no regression (-HP:0002376), no ventilator dependence (-HP:0004887), paucity of cerebral white matter (HP:0012430), mild hyperintensity and central volume loss on T2-weighted FLAIR, progressively severe hypotonia (HP:0001252), no seizures (-HP:0001250), coarse facial features (HP:0000280), localized hirsutism epicanthal folds (HP:0009889), tented upper lip (HP:0010804), long philtrum (HP:0000343); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051206" "00139" "00065097" "01606" "Familial, autosomal recessive" "10y" "progressively severe hypotonia (HP:0001252), no sitting, no regression (HP:0002376), no ventilator dependence (-HP:0004887); MRI bilateral frontal white-matter hyperintensities on T2-weighted FLAIR; no seizures (-HP:0001250), metopic ridge (HP:0005487), thick bushy eyebrows (HP:0000574), high-arched palate (HP:0000218); small pectus excavatum (HP:0000767), mild scoliosis (HP:0002650), diastasis recti (HP:0001540), clinodactyly (HP:0030084), partial syndactyly toes 2/3 (HP:0004691); prenatal renal pyelectasis (HP:0010945), hepatic calcifications (HP:0006559); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051207" "00139" "00065101" "01604" "Familial, autosomal recessive" "11y" "mild prominence of the lateral ventricles (HP:?), epicanthal folds (HP:0000286), broad nasal bridge (HP:0000431), deep-set eyes (HP:0000490), autism (HP:0000717), bipolar disorder (HP:0007302), high-arched palate (HP:0000218), broad fingers (HP:0001500) and toes (HP:0001837), mild scoliosis (HP:0002650), no ventilator dependence (-HP:0005946); moderate intellectual disability (HP:0002342); mild global developmental delay (HP:0011342), motor delay (HP:0001270); mild speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000051208" "00139" "00065102" "01604" "Familial, autosomal recessive" "04y" "mild macrocephaly (HP:0004482), no unusual facial features (-HP:0000271), no seizures (-HP:0001250), reduced reflexes, MRI normal, no ventilator dependence (-HP:0004887), independent walking; ventriculomegaly (HP:0010952); moderate intellectual disability (HP:0002342); severe global developmental delay (HP:0011344); motor delay (HP:0001270); poor speech (HP:0002465)" "" "" "" "" "" "" "" "" "" "" "" "0000051209" "00139" "00065103" "01606" "Familial, autosomal recessive" "06y" "no regression (-HP:0002376), no ventilator dependence (-HP:0004887), severe hypotonia (HP:0001252), areflexia lower limbs (HP:0002522), pectus excavatum (HP:0000767), pulmonic stenosis (HP:0001642), no seizures (-HP:0001250), discrete abnormality periventricular and bilateral parietal white matter (HP:0002518); severe intellectual disability (HP:0010864); motor delay (HP:0001270), neurodevelopmental delay (HP:0012758); poor speech (HP:0002465)" "" "" "" "" "" "" "" "" "" "" "" "0000051210" "00139" "00065104" "01604" "Familial, autosomal recessive" "02y" "severe intellectual disability (HP:0010864); mild global developmental delay (HP:0011342), motor delay (HP:0001270); no speech delay (-HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000051211" "00139" "00065105" "01606" "Familial, autosomal recessive" "03y" "no regression (-HP:0002376), no ventilator dependence (-HP:0004887), hypotonia (HP:0001252), reflexes present, no seizures (-HP:0001250), macrocephaly (HP:0000256), broad forehead (HP:0000337), short neck (HP:0000470) discrete abnormality periventricular and bilateral parietal white matter (HP:0002518), delayed skeletal maturation (HP:0002750); moderate intellectual disability (HP:0002342); motor delay (HP:0001270); speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000051212" "00139" "00065106" "01606" "Familial, autosomal recessive" "12y" "no regression (-HP:0002376), no ventilator dependence (-HP:0004887), moderate hypotonia (HP:0001252), reflexes present, no seizures (-HP:0001250), broad forehead (HP:0000337), bulbous nose (HP:0000414), open mouth (HP:0000194), thick lips (HP:0012471), deep palate (HP:0000174), mandibular prognathia (HP:0000303), hearing impairment (HP:0000365), behavioral abnormality (HP:0000708), delayed skeletal maturation (HP:0002750); severe intellectual disability (HP:0010864); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051213" "00139" "00065107" "01606" "Familial, autosomal recessive" "10y" "regression (HP:0002376), ventilator dependence (HP:0004887), severe hypotonia (HP:0001252), Reduced reflexes (HP:0001315), cortical atrophy (HP:0002120), seizures (HP:0001250), Synophrys (HP:0000664), long eyelashes (HP:0000527), macroglossia (HP:0000158), macrocephaly (HP:0000256), Hirsutism (HP:0001007), Coarse facial features (HP:0000280), Corneal opacity (HP:0007957), central adrenal insufficiency (HP:0011734), growth hormone deficiency (HP:0000824), scoliosis (HP:0002650); severe intellectual disability (HP:0010864); motor delay (HP:0001270); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000051215" "00787" "00065108" "01604" "Familial, autosomal recessive" "14y" "see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cataracts (HP:0000518), ptosis (HP:0000508), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), right preauricular pit (HP:0004467), gingival hyperplasia (HP:0000212), macroglossia (HP:0000158), neurogenic bladder\r\n(vesicostomy) (HP:0000011), subdural hematoma (unclear\r\netiology) (HP:0100309), metabolic stroke (HP:?), osteoporosis\r\n(three femur fractures) (HP:0000939), hypertriglyceridemia (HP:0002155), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212)" "02y06m" "" "" "" "" "" "" "" "" "" "" "0000051217" "00787" "00065111" "01604" "Familial, autosomal recessive" "04y" "see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal hearing (-HP:0100704), osteoporosis\r\n(three femur fractures) (HP:0000939), mild virilization of external genitalia as a neonate (subsequently normalized) (HP:?), turricephaly (HP:0000262), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158), gingival hyperplasia (HP:0000212)" "00y25m" "" "" "" "" "" "" "" "" "" "" "0000051219" "00787" "00065114" "01604" "Familial, autosomal recessive" "10y" "see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), visual impairment (HP:0000505), no abnormal hearing (-HP:0100704), osteoporosis\r\n(three femur fractures) (HP:0000939), muscle fasciculations (HP:0002380), increased\r\nmuscle bulk (HP:0030236), elevated creatine\r\nkinase (800 IU/L) during viral\r\ninfection (not repeated) (HP:0003236), Bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), no coarse features (-HP:0000280), no macroglossia (-HP:0000158)" "06y" "" "" "" "" "" "" "" "" "" "" "0000051220" "00787" "00065115" "01604" "Familial, autosomal recessive" "00y24m" "see paper: developmental disability (HP:?), no developmental regression (-HP:0002376), severe hypotonia (HP:0006829), bilateral optical atrophy (HP: ?), severe esotropia (HP:0000565), no abnormal hearing (-HP:0100704), right-sided aortic arch (HP:0012020), 11 ribs (HP:0000878), turricephaly (HP:0000262), hypertrichosis (HP:0000998), bitemporal narrowing (HP:0000341), no arched eyebrows (-HP:0002553), no deep-set eyes (-HP:0000490), high nasal bridge (HP:0000426), anteverted nares (HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), no macroglossia (-HP:0000158)" "" "" "" "" "" "" "" "" "" "" "" "0000051221" "00787" "00065116" "01604" "Familial, autosomal recessive" "14y" "see paper: developmental disability (HP:?), developmental regression (HP:0002376), severe hypotonia (HP:0006829), cortical visual impairment (HP:0100704), no abnormal ERG (-HP:0000512), no abnormal hearing (-HP:0100704), hypertriglyceridemia (HP:0002155), tongue fasciculations (HP:0001308), intermittent hyponatremia (HP:0002902), osteoporosis (HP:0000939), bitemporal narrowing (HP:0000341), arched eyebrows (HP:0002553), deep-set eyes (HP:0000490), high nasal bridge (HP:0000426), no anteverted nares (-HP:0000463), exaggerated cupid’s bow (HP:0002263), coarse features (HP:0000280), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212)" "00y11m" "" "" "" "" "" "" "" "" "" "" "0000170800" "00198" "00225694" "00006" "Familial, autosomal recessive" "" "see paper; …, global developmental delay, epilepsy, dysmorphism, hypotonia, and VSD" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000210590" "00198" "00276034" "01807" "Unknown" "" "Intellectual disability, mild (HP:0001256); Behavioral abnormality (HP:0000708); Short attention span (HP:0000736)" "" "" "" "" "" "" "" "" "" "" "" "0000221953" "00198" "00288216" "00006" "Familial" "3y" "short stature, macrocephaly, failure to thrive, craniosynostosis, broad nasal tip, high anterior hairline, depressed nasal bridge, torticollis, plagiocephaly, epicanthus, highly arched eyebrow, short chin, nystagmus, strabismus, hypertelorism, ptosis, esotropia, prominent fingertip pads, seborrheic dermatitis, hypotonia, delayed skeletal maturation, developmental delay, absent speech, seizures, communicating hydrocephalus, leukoencephalopathy, gait disturbance, inappropriate behavior, hyper oral fixation, ventriculomegaly, periventricular leukomalacia, hoarse voice, feeding difficulties, abdominal distention" "" "" "" "" "" "" "" "" "" "" "" "0000232603" "00198" "00306775" "01807" "Unknown" "" "Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000257075" "00139" "00361670" "00006" "Familial, autosomal recessive" "3y6m" "syndromic; global developmental delay, seizures, dysmorphism, hypotonia, VSD" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000259230" "00198" "00363892" "01807" "Unknown" "" "Strabismus (HP:0000486); Seizure (HP:0001250); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Severe global developmental delay (HP:0011344)" "" "" "" "" "" "" "" "" "" "" "" "0000343440" "05611" "00454830" "00006" "Familial, autosomal recessive" "4m" "see paper; ..., hypotonia, areflexia, encephalopathy, epilepsy; MRI brain hypoplastic corpus callosum, progressive hypomyelination" "" "" "" "" "" "" "" "" "IHPRF3" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016538" "00016586" "1" "00705" "00705" "2014-05-09 14:01:36" "00006" "2014-05-29 09:45:01" "SEQ" "DNA" "" "" "0000065247" "00065096" "1" "01604" "01604" "2016-05-17 11:49:43" "01604" "2016-05-17 14:32:18" "SEQ;Western" "DNA" "" "" "0000065248" "00065095" "1" "01606" "01606" "2016-05-17 11:50:48" "01606" "2016-05-18 11:03:12" "arraySNP;SEQ" "DNA" "" "" "0000065249" "00065097" "1" "01606" "01606" "2016-05-17 13:46:47" "00006" "2016-05-18 09:39:09" "arraySNP;SEQ" "DNA" "" "" "0000065250" "00065098" "1" "01604" "01604" "2016-05-17 14:06:31" "" "" "SEQ;Western" "DNA" "" "" "0000065251" "00065099" "1" "01604" "01604" "2016-05-17 14:18:02" "" "" "SEQ;Western" "DNA" "" "" "0000065252" "00065100" "1" "01606" "01606" "2016-05-17 14:27:00" "" "" "SEQ" "DNA" "" "" "0000065253" "00065101" "1" "01604" "01604" "2016-05-17 14:53:04" "" "" "SEQ;Western" "DNA" "" "" "0000065254" "00065102" "1" "01604" "01604" "2016-05-17 15:01:15" "" "" "SEQ;Western" "DNA" "" "" "0000065255" "00065104" "1" "01604" "01604" "2016-05-17 15:19:22" "" "" "SEQ;Western" "DNA" "" "" "0000065256" "00065103" "1" "01606" "01606" "2016-05-17 15:19:24" "" "" "SEQ" "DNA" "" "" "0000065257" "00065105" "1" "01606" "01606" "2016-05-18 11:56:40" "" "" "SEQ" "DNA" "" "" "0000065258" "00065106" "1" "01606" "01606" "2016-05-18 12:16:24" "" "" "SEQ" "DNA" "" "" "0000065259" "00065107" "1" "01606" "01606" "2016-05-18 12:38:38" "" "" "SEQ" "DNA" "" "" "0000065261" "00065108" "1" "01604" "01604" "2016-05-18 14:12:27" "" "" "SEQ-NG" "DNA" "" "" "0000065263" "00065111" "1" "01604" "01604" "2016-05-18 14:28:49" "" "" "SEQ-NG" "DNA" "" "" "0000065265" "00065114" "1" "01604" "01604" "2016-05-18 14:41:06" "" "" "SEQ-NG" "DNA" "" "" "0000065266" "00065115" "1" "01604" "01604" "2016-05-18 15:04:10" "" "" "SEQ-NG" "DNA" "" "" "0000065267" "00065116" "1" "01604" "01604" "2016-05-18 15:15:21" "" "" "SEQ-NG" "DNA" "" "" "0000226761" "00225694" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277181" "00276034" "1" "01807" "01807" "2020-01-24 11:02:29" "" "" "SEQ" "DNA" "" "" "0000289385" "00288216" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood, fibroblast" "WES" "0000294679" "00293511" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307911" "00306775" "1" "01807" "01807" "2020-07-20 10:33:01" "" "" "SEQ" "DNA" "" "" "0000362898" "00361670" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000365120" "00363892" "1" "01807" "01807" "2021-05-03 09:56:02" "" "" "SEQ" "DNA" "" "" "0000456441" "00454830" "1" "00006" "00006" "2024-09-28 10:13:26" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES trio gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000016538" "AHDC1" "0000016538" "CALY" "0000016538" "CCDC66" "0000016538" "PTPRB" "0000016538" "TBCK" "0000065247" "TBCK" "0000065248" "TBCK" "0000065249" "TBCK" "0000065250" "TBCK" "0000065251" "TBCK" "0000065252" "TBCK" "0000065253" "TBCK" "0000065254" "TBCK" "0000065255" "TBCK" "0000065256" "TBCK" "0000065257" "TBCK" "0000065258" "TBCK" "0000065259" "TBCK" "0000065261" "TBCK" "0000065263" "TBCK" "0000065265" "TBCK" "0000065266" "TBCK" "0000065267" "TBCK" "0000226761" "TBCK" "0000289385" "TBCK" "0000362898" "TBCK" ## 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 = 85 "{{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}}" "0000036675" "0" "35" "4" "107157632" "107157632" "subst" "2.58393E-5" "00006" "TBCK_000001" "g.107157632G>T" "" "{PMID:Xia 2014:24791903}" "" "" "not associated to phenotype" "De novo" "" "" "0" "" "" "g.106236475G>T" "" "likely benign" "" "0000096910" "1" "70" "4" "107114765" "107170140" "" "0" "01606" "TBCK_000005" "g.(107092428_107114765)_(107170140_107171574)del" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "deletion ex 7-22" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000096912" "3" "70" "4" "107115874" "107115874" "subst" "0" "01604" "TBCK_000009" "g.107115874C>T" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106194717C>T" "" "likely pathogenic" "" "0000096914" "1" "70" "4" "107114765" "107170140" "" "0" "01606" "TBCK_000005" "g.(107092428_107114765)_(107170140_107171574)del" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "deletion ex 7-22" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000096915" "2" "70" "4" "107183260" "107183260" "subst" "7.98618E-5" "01606" "TBCK_000004" "g.107183260G>A" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106262103G>A" "" "likely pathogenic" "" "0000096916" "3" "70" "4" "107115874" "107115874" "subst" "0" "01604" "TBCK_000009" "g.107115874C>T" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bohj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106194717C>T" "" "likely pathogenic" "" "0000096917" "3" "70" "4" "107168396" "107168397" "ins" "0" "01604" "TBCK_000010" "g.107168396_107168397insAT" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106247239_106247240insAT" "" "likely pathogenic" "" "0000096918" "3" "70" "4" "107152924" "107152924" "subst" "0" "01604" "TBCK_000008" "g.107152924A>G" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106231767A>G" "" "likely pathogenic" "" "0000096919" "3" "70" "4" "107183260" "107183260" "subst" "7.98618E-5" "01606" "TBCK_000004" "g.107183260G>A" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106262103G>A" "" "likely pathogenic" "" "0000096920" "1" "70" "4" "107168423" "107168426" "del" "0" "01604" "TBCK_000002" "g.107168423_107168426del" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "803_806delTGAA" "" "Germline" "" "" "0" "" "" "g.106247266_106247269del" "" "likely pathogenic" "" "0000096921" "1" "70" "4" "107168423" "107168426" "del" "0" "01604" "TBCK_000002" "g.107168423_107168426del" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "803_806delTGAA" "" "Germline" "" "" "0" "" "" "g.106247266_106247269del" "" "likely pathogenic" "" "0000096922" "2" "70" "4" "107092429" "107092429" "subst" "2.61488E-5" "01604" "TBCK_000003" "g.107092429T>C" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106171272T>C" "" "likely pathogenic" "" "0000096923" "2" "70" "4" "107092429" "107092429" "subst" "2.61488E-5" "01604" "TBCK_000003" "g.107092429T>C" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106171272T>C" "" "likely pathogenic" "" "0000096924" "2" "70" "4" "107183260" "107183260" "subst" "7.98618E-5" "01606" "TBCK_000004" "g.107183260G>A" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106262103G>A" "" "likely pathogenic" "" "0000096925" "3" "70" "4" "107181590" "107181590" "subst" "0" "01606" "TBCK_000012" "g.107181590T>C" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "c.455+4C>G" "paper reports c.455+4C>G but position c.455+4 is A not C; effect reported as splice, skipping of exons 3 and 4 (probably 4 and 5)" "Germline" "" "" "0" "" "" "g.106260433T>C" "" "likely pathogenic" "" "0000096926" "3" "70" "4" "107156512" "107156512" "del" "0" "01606" "TBCK_000011" "g.107156512del" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106235355del" "" "likely pathogenic" "" "0000096927" "3" "70" "4" "107156512" "107156512" "del" "0" "01606" "TBCK_000011" "g.107156512del" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106235355del" "" "likely pathogenic" "" "0000096928" "3" "70" "4" "107183260" "107183260" "subst" "7.98618E-5" "01606" "TBCK_000004" "g.107183260G>A" "" "{PMID:Bhoj 2016:27040691}, {DOI:Bhoj 2016:10.1016/j.ajhg.2016.03.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106262103G>A" "" "likely pathogenic" "" "0000096930" "3" "70" "4" "107183260" "107183260" "subst" "7.98618E-5" "01604" "TBCK_000004" "g.107183260G>A" "" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106262103G>A" "" "likely pathogenic" "" "0000096933" "3" "70" "4" "107156512" "107156512" "subst" "2.08777E-5" "01604" "TBCK_000007" "g.107156512T>A" "" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106235355T>A" "" "likely pathogenic" "" "0000096934" "3" "70" "4" "107156512" "107156512" "subst" "2.08777E-5" "01604" "TBCK_000007" "g.107156512T>A" "" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "" "" "" "Germline" "yes" "" "0" "" "" "g.106235355T>A" "" "likely pathogenic" "" "0000096935" "3" "70" "4" "107154202" "107154202" "subst" "0" "01604" "TBCK_000006" "g.107154202C>T" "" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106233045C>T" "" "likely pathogenic" "" "0000096936" "3" "70" "4" "107183260" "107183260" "subst" "7.98618E-5" "01604" "TBCK_000004" "g.107183260G>A" "" "{PMID:Chong 2016:27040692}, {DOI:Chong 2016:10.1016/j.ajhg.2016.01.016}" "" "" "" "Germline" "" "" "0" "" "" "g.106262103G>A" "" "likely pathogenic" "" "0000249418" "0" "30" "4" "107249368" "107249368" "subst" "0.000138896" "02325" "AIMP1_000006" "g.107249368A>G" "" "" "" "AIMP1(NM_004757.4):c.359A>G (p.E120G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106328211A>G" "" "likely benign" "" "0000259004" "0" "10" "4" "107246136" "107246136" "subst" "0.173479" "02325" "AIMP1_000003" "g.107246136C>A" "" "" "" "AIMP1(NM_004757.4):c.-25-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106324979C>A" "" "benign" "" "0000260689" "0" "90" "4" "107249343" "107249343" "subst" "0" "02326" "AIMP1_000005" "g.107249343C>T" "" "" "" "AIMP1(NM_004757.3):c.334C>T (p.Q112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106328186C>T" "" "pathogenic" "" "0000314434" "0" "90" "4" "107183260" "107183260" "subst" "7.98618E-5" "02326" "TBCK_000004" "g.107183260G>A" "" "" "" "TBCK(NM_001163435.3):c.376C>T (p.R126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106262103G>A" "" "pathogenic" "" "0000316278" "0" "30" "4" "107114937" "107114937" "subst" "0.000237773" "01943" "TBCK_000014" "g.107114937G>A" "" "" "" "TBCK(NM_001163435.3):c.1898-10C>T, TBCK(NM_001290768.1):c.1382-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106193780G>A" "" "likely benign" "" "0000344051" "0" "50" "4" "107268755" "107268755" "subst" "0" "02327" "AIMP1_000007" "g.107268755A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.106347598A>G" "" "VUS" "" "0000459762" "3" "90" "4" "107115874" "107115874" "subst" "0" "00006" "TBCK_000009" "g.107115874C>T" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "NM_033115:c.1708+1G>A" "" "Germline" "yes" "" "0" "" "" "g.106194717C>T" "" "likely pathogenic (recessive)" "" "0000521122" "0" "30" "4" "106967749" "106967749" "subst" "0.00174398" "01943" "AIMP1_000008" "g.106967749G>A" "" "" "" "TBCK(NM_001290768.1):c.2144C>T (p.T715I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106046592G>A" "" "likely benign" "" "0000521123" "0" "30" "4" "107037412" "107037412" "subst" "0" "01804" "AIMP1_000009" "g.107037412T>A" "" "" "" "TBCK(NM_001163435.1):c.2359A>T (p.(Thr787Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106116255T>A" "" "likely benign" "" "0000521124" "0" "90" "4" "107154099" "107154099" "subst" "1.63698E-5" "02327" "AIMP1_000010" "g.107154099C>T" "" "" "" "TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106232942C>T" "" "pathogenic" "" "0000521125" "0" "90" "4" "107154099" "107154099" "subst" "1.63698E-5" "02325" "AIMP1_000010" "g.107154099C>T" "" "" "" "TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106232942C>T" "" "pathogenic" "" "0000521127" "0" "90" "4" "107168423" "107168424" "ins" "0" "02327" "AIMP1_000012" "g.107168423_107168424insTTCA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106247266_106247267insTTCA" "" "pathogenic" "" "0000521129" "0" "90" "4" "107183260" "107183260" "subst" "7.98618E-5" "02325" "TBCK_000004" "g.107183260G>A" "" "" "" "TBCK(NM_001163435.3):c.376C>T (p.R126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106262103G>A" "" "pathogenic" "" "0000521130" "0" "30" "4" "107246152" "107246152" "subst" "1.67954E-5" "01943" "AIMP1_000014" "g.107246152C>T" "" "" "" "AIMP1(NM_001142416.1):c.58C>T (p.R20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106324995C>T" "" "likely benign" "" "0000521131" "0" "50" "4" "107248623" "107248623" "subst" "4.06299E-6" "01804" "AIMP1_000015" "g.107248623T>C" "" "" "" "AIMP1(NM_004757.3):c.125T>C (p.(Leu42Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106327466T>C" "" "VUS" "" "0000521132" "0" "90" "4" "107249358" "107249358" "del" "0" "02329" "AIMP1_000016" "g.107249358del" "" "" "" "AIMP1(NM_004757.4):c.349delA (p.T117Qfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106328201del" "" "pathogenic" "" "0000521133" "0" "30" "4" "107258016" "107258016" "subst" "5.2852E-5" "01943" "AIMP1_000017" "g.107258016T>C" "" "" "" "AIMP1(NM_004757.3):c.604-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106336859T>C" "" "likely benign" "" "0000608964" "0" "30" "4" "107168394" "107168394" "subst" "0" "01943" "AIMP1_000019" "g.107168394G>A" "" "" "" "TBCK(NM_001290768.1):c.317C>T (p.P106L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106247237G>A" "" "likely benign" "" "0000608965" "0" "50" "4" "107253029" "107253029" "subst" "0.000666553" "01943" "AIMP1_000021" "g.107253029C>T" "" "" "" "AIMP1(NM_004757.3):c.592C>T (p.P198S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106331872C>T" "" "VUS" "" "0000621334" "0" "30" "4" "107248644" "107248644" "subst" "4.06352E-6" "01943" "AIMP1_000020" "g.107248644G>A" "" "" "" "AIMP1(NM_004757.3):c.146G>A (p.R49Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.106327487G>A" "" "likely benign" "" "0000631925" "3" "70" "4" "107016698" "107016698" "subst" "0" "01807" "TBCK_000015" "g.107016698G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.106095541G>A" "" "likely pathogenic" "" "0000645314" "10" "90" "4" "107170140" "107170140" "subst" "0" "00006" "TBCK_000017" "g.107170140C>T" "" "{PMID:Lee 2019:31607746}" "" "" "exon skipping" "De novo" "" "" "0" "" "" "g.106248983C>T" "{CV:000930578.1}" "pathogenic (recessive)" "" "0000645331" "21" "90" "4" "107066120" "107101478" "del" "0" "00006" "TBCK_000016" "g.107066120_107101478del" "" "{PMID:Lee 2019:31607746}" "" "" "exon skipping" "Germline" "" "" "0" "" "" "g.106144963_106180321del" "{CV:000930579.1}" "pathogenic (recessive)" "" "0000651368" "1" "50" "4" "107163667" "107163667" "subst" "0.00208356" "03575" "TBCK_000018" "g.107163667T>A" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs34840340}" "Germline" "" "rs34840340" "0" "" "" "g.106242510T>A" "" "VUS" "" "0000674732" "3" "70" "4" "107156505" "107156505" "dup" "0" "01807" "TBCK_000019" "g.107156505dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000677144" "0" "70" "4" "107168423" "107168426" "del" "0" "02325" "TBCK_000002" "g.107168423_107168426del" "" "" "" "TBCK(NM_001163435.1):c.803_806delTGAA (p.(Met268fs)), TBCK(NM_001290768.2):c.287_290delTGAA (p.M96Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000689187" "0" "30" "4" "107157622" "107157622" "subst" "0.000895594" "02326" "AIMP1_000022" "g.107157622C>T" "" "" "" "TBCK(NM_001290768.2):c.759G>A (p.T253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719679" "0" "30" "4" "107016622" "107016622" "subst" "4.53788E-5" "02326" "AIMP1_000023" "g.107016622T>A" "" "" "" "TBCK(NM_001290768.2):c.2055+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719680" "0" "30" "4" "107152917" "107152917" "subst" "0" "01943" "AIMP1_000024" "g.107152917A>T" "" "" "" "TBCK(NM_001290768.1):c.1143T>A (p.A381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719681" "0" "30" "4" "107154126" "107154126" "subst" "0.000562159" "01943" "AIMP1_000025" "g.107154126T>C" "" "" "" "TBCK(NM_001290768.1):c.1092A>G (p.V364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719682" "0" "50" "4" "107163667" "107163667" "subst" "0.00208356" "01943" "TBCK_000018" "g.107163667T>A" "" "" "" "TBCK(NM_001290768.1):c.614A>T (p.D205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719683" "0" "30" "4" "107163675" "107163675" "subst" "0.000147998" "02326" "AIMP1_000026" "g.107163675C>A" "" "" "" "TBCK(NM_001290768.2):c.606G>T (p.S202=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719684" "0" "50" "4" "107165879" "107165879" "subst" "0.00183014" "01943" "AIMP1_000027" "g.107165879A>G" "" "" "" "TBCK(NM_001290768.1):c.458T>C (p.V153A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719685" "0" "50" "4" "107165912" "107165912" "subst" "0.000396857" "01943" "AIMP1_000028" "g.107165912T>C" "" "" "" "TBCK(NM_001290768.1):c.425A>G (p.N142S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719686" "0" "50" "4" "107249347" "107249347" "dup" "0" "01943" "AIMP1_000029" "g.107249347dup" "" "" "" "AIMP1(NM_004757.3):c.338dupT (p.G115Rfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763272" "3" "90" "4" "107115874" "107115874" "subst" "0" "00006" "TBCK_000009" "g.107115874C>T" "" "{PMID:Anazi 2017:27431290}" "" "NM_033115.4:c.1708+1G>A" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.106194717C>T" "" "pathogenic" "ACMG" "0000766077" "0" "70" "4" "107181669" "107181669" "subst" "0" "01807" "TBCK_000020" "g.107181669T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000801444" "0" "90" "4" "107154099" "107154099" "subst" "1.63698E-5" "01943" "AIMP1_000010" "g.107154099C>T" "" "" "" "TBCK(NM_001290768.1):c.1119G>A (p.W373*), TBCK(NM_001290768.2):c.1119G>A (p.W373*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850472" "0" "30" "4" "106967850" "106967850" "dup" "0" "01943" "AIMP1_000030" "g.106967850dup" "" "" "" "TBCK(NM_001290768.1):c.2056-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850473" "0" "50" "4" "107092301" "107092301" "subst" "1.22635E-5" "01943" "AIMP1_000031" "g.107092301G>C" "" "" "" "TBCK(NM_001290768.1):c.1670C>G (p.S557W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850474" "0" "70" "4" "107114854" "107114854" "dup" "0" "02329" "AIMP1_000032" "g.107114854dup" "" "" "" "TBCK(NM_001290768.2):c.1455dupT (p.I486Yfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850475" "0" "50" "4" "107170110" "107170110" "subst" "0" "01943" "AIMP1_000034" "g.107170110C>T" "" "" "" "TBCK(NM_001290768.1):c.172G>A (p.A58T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859201" "0" "30" "4" "107157562" "107157562" "subst" "0.000726786" "01943" "AIMP1_000033" "g.107157562G>A" "" "" "" "TBCK(NM_001290768.1):c.819C>T (p.F273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886075" "0" "70" "4" "107181669" "107181669" "subst" "0" "02327" "TBCK_000020" "g.107181669T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912023" "0" "50" "4" "107037360" "107037360" "subst" "0" "02327" "AIMP1_000035" "g.107037360T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912024" "0" "70" "4" "107169448" "107169449" "del" "0" "01804" "AIMP1_000036" "g.107169448_107169449del" "" "" "" "TBCK(NM_001163435.1):c.737_738del (p.(Val246Aspfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912025" "0" "50" "4" "107181631" "107181631" "subst" "9.08678E-6" "02327" "AIMP1_000037" "g.107181631T>C" "" "" "" "TBCK(NM_001163435.3):c.418A>G (p.(Met140Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912026" "0" "70" "4" "107183323" "107183323" "subst" "0" "01804" "AIMP1_000038" "g.107183323G>A" "" "" "" "TBCK(NM_001163435.1):c.313C>T (p.(Gln105*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976052" "0" "30" "4" "107154085" "107154085" "subst" "0" "01804" "AIMP1_000040" "g.107154085C>T" "" "" "" "TBCK(NM_001163435.3):c.1639+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976053" "0" "30" "4" "107157542" "107157542" "del" "0" "01804" "AIMP1_000041" "g.107157542del" "" "" "" "TBCK(NM_001163435.3):c.1350+6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976054" "0" "50" "4" "107181631" "107181631" "subst" "9.08678E-6" "01804" "AIMP1_000037" "g.107181631T>C" "" "" "" "TBCK(NM_001163435.3):c.418A>G (p.(Met140Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976055" "0" "50" "4" "107229957" "107229957" "subst" "4.06623E-6" "01804" "AIMP1_000042" "g.107229957C>T" "" "" "" "TBCK(NM_001163435.3):c.161G>A (p.(Cys54Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976056" "0" "50" "4" "107249280" "107249280" "subst" "2.03287E-5" "01804" "AIMP1_000043" "g.107249280A>G" "" "" "" "AIMP1(NM_001142416.2):c.271A>G (p.(Met91Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993997" "0" "70" "4" "107037515" "107037515" "del" "0" "01804" "AIMP1_000044" "g.107037515del" "" "" "" "TBCK(NM_001163435.1):c.2258delA (p.(Asn753fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993998" "0" "90" "4" "107168423" "107168426" "del" "0" "01804" "TBCK_000002" "g.107168423_107168426del" "" "" "" "TBCK(NM_001163435.1):c.803_806delTGAA (p.(Met268fs)), TBCK(NM_001290768.2):c.287_290delTGAA (p.M96Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001010124" "3" "90" "4" "107091826" "107099220" "delins" "0" "00006" "TBCK_000021" "g.107091826_107099220delinsCAGAGAATGCCTCTCCATATTTACCAT" "" "{PMID:Dekker 2023:36669495}" "" "" "skipping exon 23" "Germline" "" "" "0" "" "" "g.106170669_106178063delinsCAGAGAATGCCTCTCCATATTTACCAT" "" "pathogenic (recessive)" "" "0001034242" "0" "30" "4" "107016790" "107016790" "subst" "0.000155527" "01804" "AIMP1_000045" "g.107016790C>G" "" "" "" "TBCK(NM_001163435.3):c.2420G>C (p.(Arg807Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034243" "0" "30" "4" "107114937" "107114937" "subst" "0.000237773" "02326" "TBCK_000014" "g.107114937G>A" "" "" "" "TBCK(NM_001163435.3):c.1898-10C>T, TBCK(NM_001290768.1):c.1382-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034244" "0" "90" "4" "107115887" "107115887" "dup" "0" "02329" "AIMP1_000046" "g.107115887dup" "" "" "" "TBCK(NM_001290768.2):c.1369dupA (p.T457Nfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034245" "0" "30" "4" "107154226" "107154226" "subst" "0" "01804" "AIMP1_000047" "g.107154226T>C" "" "" "" "TBCK(NM_001163435.3):c.1513-5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034246" "0" "50" "4" "107173063" "107173063" "subst" "0" "01804" "AIMP1_000048" "g.107173063T>C" "" "" "" "TBCK(NM_001163435.3):c.557A>G (p.(Asp186Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034247" "0" "50" "4" "107268805" "107268805" "subst" "0" "01804" "AIMP1_000049" "g.107268805G>C" "" "" "" "AIMP1(NM_001142416.2):c.895G>C (p.(Gly299Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TBCK ## Count = 85 "{{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}}" "0000036675" "00024132" "30" "1265" "0" "1265" "0" "c.1265C>A" "r.(?)" "p.(Ala422Glu)" "14" "0000096910" "00024132" "70" "659" "-1" "2059" "1" "c.(658+1_659-1)_(2059+1_2060-1)del" "r.?" "p.?" "7i_22i" "0000096912" "00024132" "70" "1897" "1" "1897" "1" "c.1897+1G>A" "r.spl?" "p.?" "21i" "0000096914" "00024132" "70" "659" "-1" "2059" "1" "c.(658+1_659-1)_(2059+1_2060-1)del" "r.?" "p.?" "7i_22i" "0000096915" "00024132" "70" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "4" "0000096916" "00024132" "70" "1897" "1" "1897" "1" "c.1897+1G>A" "r.spl?" "p.?" "21i" "0000096917" "00024132" "70" "831" "0" "832" "0" "c.831_832insTA" "r.(?)" "p.(Pro278Tyrfs*18)" "9i" "0000096918" "00024132" "70" "1652" "0" "1652" "0" "c.1652T>C" "r.(?)" "p.(Leu551Pro)" "18" "0000096919" "00024132" "70" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "4" "0000096920" "00024132" "70" "803" "0" "806" "0" "c.803_806del" "r.(?)" "p.(Met268Argfs*26)" "9" "0000096921" "00024132" "70" "803" "0" "806" "0" "c.803_806del" "r.(?)" "p.(Met268Argfs*26)" "9i" "0000096922" "00024132" "70" "2060" "-2" "2060" "-2" "c.2060-2A>G" "r.spl" "p.?" "22i" "0000096923" "00024132" "70" "2060" "-2" "2060" "-2" "c.2060-2A>G" "r.spl" "p.?" "22i" "0000096924" "00024132" "70" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "4" "0000096925" "00024132" "70" "455" "4" "455" "4" "c.455+4A>G" "r.(267_455del)" "p.(Ser89_Gly152delinsArg)" "5i" "0000096926" "00024132" "70" "1370" "0" "1370" "0" "c.1370del" "r.(?)" "p.(Asn457Thrfs*15)" "15" "0000096927" "00024132" "70" "1370" "0" "1370" "0" "c.1370del" "r.(?)" "p.(Asn457Thrfs*15)" "15" "0000096928" "00024132" "70" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "4" "0000096930" "00024132" "70" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "4" "0000096933" "00024132" "70" "1363" "0" "1363" "0" "c.1363A>T" "r.(?)" "p.(Lys455*)" "15" "0000096934" "00024132" "70" "1363" "0" "1363" "0" "c.1363A>T" "r.(?)" "p.(Lys455*)" "15" "0000096935" "00024132" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "17" "0000096936" "00024132" "70" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126*)" "4" "0000249418" "00024132" "30" "-12310" "0" "-12310" "0" "c.-12310T>C" "r.(?)" "p.(=)" "" "0000259004" "00024132" "10" "-9078" "0" "-9078" "0" "c.-9078G>T" "r.(?)" "p.(=)" "" "0000260689" "00024132" "90" "-12285" "0" "-12285" "0" "c.-12285G>A" "r.(?)" "p.(=)" "" "0000314434" "00024132" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Ter)" "" "0000316278" "00024132" "30" "1898" "-10" "1898" "-10" "c.1898-10C>T" "r.(=)" "p.(=)" "" "0000344051" "00024132" "50" "-31697" "0" "-31697" "0" "c.-31697T>C" "r.(?)" "p.(=)" "" "0000459762" "00024132" "90" "1897" "1" "1897" "1" "c.1897+1G>A" "r.spl" "p.?" "" "0000521122" "00024132" "30" "2660" "0" "2660" "0" "c.2660C>T" "r.(?)" "p.(Thr887Ile)" "" "0000521123" "00024132" "30" "2359" "0" "2359" "0" "c.2359A>T" "r.(?)" "p.(Thr787Ser)" "" "0000521124" "00024132" "90" "1635" "0" "1635" "0" "c.1635G>A" "r.(?)" "p.(Trp545Ter)" "" "0000521125" "00024132" "90" "1635" "0" "1635" "0" "c.1635G>A" "r.(?)" "p.(Trp545Ter)" "" "0000521127" "00024132" "90" "803" "0" "804" "0" "c.803_804insTGAA" "r.(?)" "p.(Met268IlefsTer9)" "" "0000521129" "00024132" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Arg126Ter)" "" "0000521130" "00024132" "30" "-9094" "0" "-9094" "0" "c.-9094G>A" "r.(?)" "p.(=)" "" "0000521131" "00024132" "50" "-11565" "0" "-11565" "0" "c.-11565A>G" "r.(?)" "p.(=)" "" "0000521132" "00024132" "90" "-12299" "0" "-12299" "0" "c.-12299del" "r.(?)" "p.(=)" "" "0000521133" "00024132" "30" "-20958" "0" "-20958" "0" "c.-20958A>G" "r.(?)" "p.(=)" "" "0000608964" "00024132" "30" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Pro278Leu)" "" "0000608965" "00024132" "50" "-15971" "0" "-15971" "0" "c.-15971G>A" "r.(?)" "p.(=)" "" "0000621334" "00024132" "30" "-11586" "0" "-11586" "0" "c.-11586C>T" "r.(?)" "p.(=)" "" "0000631925" "00024132" "70" "2512" "0" "2512" "0" "c.2512C>T" "r.(?)" "p.(Gln838*)" "" "0000645314" "00024132" "90" "659" "-1" "659" "-1" "c.659-1G>A" "r.659_720del" "p.?" "" "0000645331" "00024132" "90" "2060" "-9050" "2235" "26133" "c.2060-9050_2235+26133del" "r..2060_2235del" "p.?" "" "0000651368" "00024132" "50" "1130" "0" "1130" "0" "c.1130A>T" "r.(?)" "p.(Asp377Val)" "" "0000674732" "00024132" "70" "1370" "0" "1370" "0" "c.1370dup" "r.(?)" "p.(Asn457LysfsTer10)" "" "0000677144" "00024132" "70" "803" "0" "806" "0" "c.803_806del" "r.(?)" "p.(Met268ArgfsTer26)" "" "0000689187" "00024132" "30" "1275" "0" "1275" "0" "c.1275G>A" "r.(?)" "p.(Thr425=)" "" "0000719679" "00024132" "30" "2571" "17" "2571" "17" "c.2571+17A>T" "r.(=)" "p.(=)" "" "0000719680" "00024132" "30" "1659" "0" "1659" "0" "c.1659T>A" "r.(?)" "p.(Ala553=)" "" "0000719681" "00024132" "30" "1608" "0" "1608" "0" "c.1608A>G" "r.(?)" "p.(Val536=)" "" "0000719682" "00024132" "50" "1130" "0" "1130" "0" "c.1130A>T" "r.(?)" "p.(Asp377Val)" "" "0000719683" "00024132" "30" "1122" "0" "1122" "0" "c.1122G>T" "r.(?)" "p.(Ser374=)" "" "0000719684" "00024132" "50" "974" "0" "974" "0" "c.974T>C" "r.(?)" "p.(Val325Ala)" "" "0000719685" "00024132" "50" "941" "0" "941" "0" "c.941A>G" "r.(?)" "p.(Asn314Ser)" "" "0000719686" "00024132" "50" "-12289" "0" "-12289" "0" "c.-12289dup" "r.(?)" "p.(=)" "" "0000763272" "00024132" "90" "1897" "1" "1897" "1" "c.1897+1G>A" "r.spl?" "p.?" "" "0000766077" "00024132" "70" "382" "-2" "382" "-2" "c.382-2A>G" "r.spl" "p.?" "" "0000801444" "00024132" "90" "1635" "0" "1635" "0" "c.1635G>A" "r.(?)" "p.(Trp545Ter)" "" "0000850472" "00024132" "30" "2572" "-5" "2572" "-5" "c.2572-5dup" "r.spl?" "p.?" "" "0000850473" "00024132" "50" "2186" "0" "2186" "0" "c.2186C>G" "r.(?)" "p.(Ser729Trp)" "" "0000850474" "00024132" "70" "1971" "0" "1971" "0" "c.1971dup" "r.(?)" "p.(Ile658Tyrfs*16)" "" "0000850475" "00024132" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Ala230Thr)" "" "0000859201" "00024132" "30" "1335" "0" "1335" "0" "c.1335C>T" "r.(?)" "p.(Phe445=)" "" "0000886075" "00024132" "70" "382" "-2" "382" "-2" "c.382-2A>G" "r.spl?" "p.?" "" "0000912023" "00024132" "50" "2411" "0" "2411" "0" "c.2411A>G" "r.(?)" "p.(Asp804Gly)" "" "0000912024" "00024132" "70" "737" "0" "738" "0" "c.737_738del" "r.(?)" "p.(Val246Aspfs*6)" "" "0000912025" "00024132" "50" "418" "0" "418" "0" "c.418A>G" "r.(?)" "p.(Met140Val)" "" "0000912026" "00024132" "70" "313" "0" "313" "0" "c.313C>T" "r.(?)" "p.(Gln105*)" "" "0000976052" "00024132" "30" "1639" "10" "1639" "10" "c.1639+10G>A" "r.(=)" "p.(=)" "" "0000976053" "00024132" "30" "1350" "6" "1350" "6" "c.1350+6del" "r.(=)" "p.(=)" "" "0000976054" "00024132" "50" "418" "0" "418" "0" "c.418A>G" "r.(?)" "p.(Met140Val)" "" "0000976055" "00024132" "50" "161" "0" "161" "0" "c.161G>A" "r.(?)" "p.(Cys54Tyr)" "" "0000976056" "00024132" "50" "-12222" "0" "-12222" "0" "c.-12222T>C" "r.(?)" "p.(=)" "" "0000993997" "00024132" "70" "2258" "0" "2258" "0" "c.2258del" "r.(?)" "p.(Asn753Metfs*3)" "" "0000993998" "00024132" "90" "803" "0" "806" "0" "c.803_806del" "r.(?)" "p.(Met268ArgfsTer26)" "" "0001010124" "00024132" "90" "2060" "-6793" "2235" "426" "c.2060-6793_2235+426delinsATGGTAAATATGGAGAGGCATTCTCTG" "r.2060_2235del" "p.Glu687ValfsTer9" "" "0001034242" "00024132" "30" "2420" "0" "2420" "0" "c.2420G>C" "r.(?)" "p.(Arg807Pro)" "" "0001034243" "00024132" "30" "1898" "-10" "1898" "-10" "c.1898-10C>T" "r.(=)" "p.(=)" "" "0001034244" "00024132" "90" "1885" "0" "1885" "0" "c.1885dup" "r.(?)" "p.(Thr629Asnfs*45)" "" "0001034245" "00024132" "30" "1513" "-5" "1513" "-5" "c.1513-5A>G" "r.spl?" "p.?" "" "0001034246" "00024132" "50" "557" "0" "557" "0" "c.557A>G" "r.(?)" "p.(Asp186Gly)" "" "0001034247" "00024132" "50" "-31747" "0" "-31747" "0" "c.-31747C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000016538" "0000036675" "0000065247" "0000096912" "0000065248" "0000096910" "0000065248" "0000096924" "0000065249" "0000096914" "0000065249" "0000096915" "0000065250" "0000096916" "0000065251" "0000096917" "0000065252" "0000096919" "0000065253" "0000096918" "0000065254" "0000096920" "0000065254" "0000096922" "0000065255" "0000096921" "0000065255" "0000096923" "0000065256" "0000096925" "0000065257" "0000096926" "0000065258" "0000096927" "0000065259" "0000096928" "0000065261" "0000096930" "0000065263" "0000096933" "0000065265" "0000096934" "0000065266" "0000096935" "0000065267" "0000096936" "0000226761" "0000459762" "0000277181" "0000631925" "0000289385" "0000645314" "0000289385" "0000645331" "0000294679" "0000651368" "0000307911" "0000674732" "0000362898" "0000763272" "0000365120" "0000766077" "0000456441" "0001010124"