### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WARS2) # 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}}" "WARS2" "tryptophanyl tRNA synthetase 2, mitochondrial" "1" "p12" "unknown" "NG_050658.1" "UD_132456046777" "" "https://www.LOVD.nl/WARS2" "" "1" "12730" "10352" "604733" "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/WARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-02-01 09:22:10" "00006" "2023-11-16 21:21:13" ## 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}}" "00001006" "WARS2" "transcript variant 1" "001" "NM_015836.3" "" "NP_056651.1" "" "" "" "-28" "2778" "1083" "119573839" "119683295" "00000" "2012-09-13 13:06:25" "" "" ## 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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04147" "MRT" "mental retardation, autosomal recessive (MRT, intellectual disability (IDT))" "" "" "" "autosomal recessive" "" "00006" "2014-10-11 12:21:35" "00006" "2018-12-18 09:25:11" "05894" "NEMMLAS" "neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with/without seizures (NEMMLAS)" "AR" "617710" "" "" "" "00006" "2021-02-01 09:21:38" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "WARS2" "00139" "WARS2" "05894" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00092293" "" "" "" "3" "" "01856" "{PMID:Musante 2017:28236339}, {DOI:Musante 2017:10.1002/humu.23205}" "6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "Iran (Semnan province)" "Fam2PatV7" "00119093" "" "" "" "1" "" "02236" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Serbia" "00y00m23d" "0" "" "" "Slowakia" "FAM1PATII1" "00119094" "" "" "" "2" "" "02236" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Netherlands" "03y06m" "0" "" "" "" "Fam2PatII1" "00119095" "" "" "" "1" "" "02236" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "03y" "0" "" "" "" "Fam3PatII1" "00119096" "" "" "" "1" "" "02236" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iraq" ">03y" "0" "" "" "" "Fam4PatII3" "00119097" "" "" "" "1" "" "02236" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Canada" ">10y" "0" "" "" "" "Fam5PatIIi" "00328822" "" "" "00092293" "1" "" "01856" "{PMID:Musante 2017:28236339}, {DOI:Musante 2017:10.1002/humu.23205}" "sister" "F" "yes" "Iran" "" "0" "" "" "Iran (Semnan province)" "Fam2PatV8" "00328827" "" "" "00119094" "1" "" "00006" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "brother" "M" "" "Netherlands" "1y6m" "0" "" "" "" "Fam2PatII2" "00328829" "" "" "" "1" "" "00006" "{PMID:Theisen 2017:28650581}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "" "" "0" "" "" "Europe" "patient" "00441929" "" "" "" "2" "" "00006" "{PMID:Skorvanek 2022:34890876}" "2-generation family, 2 affected, unaffected heterozygous carrier father" "M" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Fam1Pat1" "00441930" "" "" "00441929" "1" "" "00006" "{PMID:Skorvanek 2022:34890876}" "sister" "F" "" "Slovakia (Slovak Republic)" "" "0" "" "" "" "Fam1Pat2" "00441931" "" "" "" "2" "" "00006" "{PMID:Skorvanek 2022:34890876}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "Czech Republic" "" "0" "" "" "" "Fam2Pat3" "00441932" "" "" "00441931" "1" "" "00006" "{PMID:Skorvanek 2022:34890876}" "brother" "M" "" "Czech Republic" "" "0" "" "" "" "Fam2Pat4" "00441933" "" "" "" "1" "" "00006" "{PMID:Skorvanek 2022:34890876}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "Fam3Pat5" "00441934" "" "" "" "1" "" "00006" "{PMID:Skorvanek 2022:34890876}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "Fam4Pat6" "00441935" "" "" "" "1" "" "00006" "{PMID:Vantroys 2018:29783990}" "" "F" "" "Belgium" "6y6m" "0" "" "" "" "patient" "00441936" "" "" "" "1" "" "00006" "{PMID:Burke 2018:29120065}" "" "M" "" "" "" "0" "" "" "Europe" "patient" "00441937" "" "" "" "1" "" "00006" "{PMID:Virdee 2019:31282308}" "" "F" "" "Netherlands" "" "0" "" "" "" "patient" "00441938" "" "" "" "1" "" "00006" "{PMID:Hubers 2019:31970218}" "" "M" "" "Germany" "" "0" "" "" "" "patient" "00441939" "" "" "" "2" "" "00006" "{PMID:Maffezzini 2019:30920170}" "2-generation family, 2 affected, unaffected heterozygous carrier father" "F" "" "Sweden" "" "0" "" "" "" "FamPatII1" "00441940" "" "" "00441939" "1" "" "00006" "{PMID:Maffezzini 2019:30920170}" "sister" "F" "" "Sweden" "" "0" "" "" "" "FamPatII2" "00441941" "" "" "" "1" "" "00006" "{PMID:Martinelli 2020:32120303}" "" "M" "" "Italy" "" "0" "" "" "" "PatAV07" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00092293" "04147" "00119093" "00198" "00119094" "00198" "00119095" "00198" "00119096" "00198" "00119097" "00198" "00328822" "04147" "00328827" "00198" "00328829" "00198" "00441929" "00198" "00441930" "00198" "00441931" "00198" "00441932" "00198" "00441933" "00198" "00441934" "00198" "00441935" "00198" "00441936" "00198" "00441937" "00198" "00441938" "00198" "00441939" "00198" "00441940" "00198" "00441941" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 04147, 05894 ## Count = 24 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000070638" "04147" "00092293" "01856" "Familial, autosomal recessive" "17y" "birth 38w; weight normal for age and height, height 150cm (-2SD), OFC 52cm (-2SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 46); athetosis" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000094160" "00198" "00119093" "02236" "Unknown" "" "23d-died (multi organ failure); neonatal onset; low birth weight, lactic acidosis (HP:0003128); encephalopathy (HP:0001298); decreased muscle tone; impaired suckling/swallowing; no epilepsy; intestinal pseudoobstruction; ultrasound neonatal unremarkable; max. serum lactate 25 mmol/l" "<00y00m00d" "00y00m23d" "" "" "" "" "" "" "" "" "" "0000094161" "00198" "00119094" "02236" "Unknown" "03y06m" "3y6m-died (respiratory failure); neonatal onset; low birth weight, lactic acidosis (HP:0003128), low blood glucose; severe intellectual disability, developmental delay; increased muscle tone; dystonia; impaired suckling/swallowing; epilepsy; MRI-brain white matter defects with absent myelinisation; encephalopathy (HP:0001298)" "<00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000094162" "00198" "00119095" "02236" "Unknown" "03y" "3y-died (epilepsy); onset 4m-muscular hypotonia, strabismus; unremarkable neonatal course; severe intellectual disability, developmental delay; decreased muscle tone; no movement disorder; epilepsy; cardiomyopathy, retinitis pigmentosa; lactic acidosis (HP:0003128), encephalopathy (HP:0001298)" "" "" "" "" "" "" "" "" "" "" "" "0000094163" "00198" "00119096" "02236" "Unknown" "03y" "onset 13m-developmental delay, movement disorder; severe intellectual disability, developmental delay; decreased muscle tone, increased muscle tone; dystonia; impaired suckling/swallowing; suspected epilepsy; MRI-brain 13m-hypoxemic‐ischemic basal ganglia lesions; max. serum lactate 2.1 mmol/l, lactic acidosis (HP:0003128); encephalopathy (HP:0001298)" "00y13m" "" "" "" "" "" "" "" "" "" "" "0000094164" "00198" "00119097" "02236" "Unknown" "10y" "onset 18m-developmental delay; unremarkable neonatal course; mild/moderate intellectual disability, severe developmental delay; increased muscle tone; ataxia; no impaired suckling/swallowing; no epilepsy; mild nystagmus, optic atrophy, no visual impairment; MRI-brain 1y6m-cerebral atrophy, 4y-cerebellar atrophy; max. serum lactate 2.9 mmol/l, lactic acidosis (HP:0003128); encephalopathy (HP:0001298)" "00y18m" "" "" "" "" "" "" "" "" "" "" "0000247029" "04147" "00328822" "01856" "Familial, autosomal recessive" "16y" "birth 37w; weight normal for age and height, height 151cm (-2SD), OFC 54cm (0SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 41); athetosis" "" "" "" "" "" "" "" "" "" "" "" "0000247035" "00198" "00328827" "00006" "Unknown" "01y06m" "1y6m-died (epilepsy); neonatal onset; low birth weight, (HP:0003128), hypoglycaemia; severe intellectual disability, developmental delay; increased muscle tone; impaired suckling/swallowing; epilepsy; MRI-brain neonatal white matter edema, 18m-frontal atrophy; max. serum lactate 15 mmol/l; encephalopathy (HP:0001298)" "<00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000247036" "00198" "00328829" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., 24y-deceased; neonatal onset; ataxia; dystonia; action tremor; hypotonia; seizures; intellectual disability; growth retardation; exotropia, amblyopia, horizontal nystagmus, diffuse weakness, spastic quadriplegia" "" "" "" "" "" "" "" "" "NEMMLAS" "severe infantile onset leukoencephalopathy" "" "0000331312" "00198" "00441929" "00006" "Familial, autosomal recessive" "36y" "see paper; ..., Parkinsonism; dystonia; chorea, drug-induced dyskinesia; action tremor; spasticity; sinus tachycardia, aggressive behavior, anxiety, depression, psychosis" "12y" "" "" "" "" "" "" "" "" "action hand tremor" "" "0000331313" "00198" "00441930" "00006" "Familial, autosomal recessive" "33y" "see paper; ..., Parkinsonism; dystonia; myoclonus; action tremor; spasticity; psychosis, anxiety, depression" "10y" "" "" "" "" "" "" "" "" "action hand tremor" "" "0000331314" "00198" "00441931" "00006" "Familial, autosomal recessive" "28y" "see paper; ..., ataxia; dystonia; myoclonus; action tremor; intellectual disability" "3y" "" "" "" "" "" "" "" "" "myoclonus" "" "0000331315" "00198" "00441932" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., ataxia; dystonia; myoclonus; action tremor; spasticity; intellectual disability; social phobia, slowed saccades, spasticity" "6y" "" "" "" "" "" "" "" "" "myoclonus" "" "0000331316" "00198" "00441933" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., dystonia; myoclonus; chorea; action tremor; spasticity; growth retardation; speech delay, spasticity, dysphagia" "18m" "" "" "" "" "" "" "" "" "myoclonus" "" "0000331317" "00198" "00441934" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., neonatal onset; ataxia; action tremor; intellectual disability; growth retardation; unstable body temperature, paroxysmal exercise-induced leg weakness" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000331318" "00198" "00441935" "00006" "Familial, autosomal recessive" "6y6m" "see paper (Skorvanek); ..., 6y6m-deceased; dystonia; chorea; hypotonia; seizures; intellectual disability; growth retardation; optic atrophy, weakness, acute hepatopathy, thin upper lip, low set ears, broad nasal bridge, hypertelorism, ogival palate" "<1y" "" "" "" "" "" "" "" "" "axial hypotonia, hypertonia, dystonia" "" "0000331319" "00198" "00441936" "00006" "Familial, autosomal recessive" "17y" "see paper (Skorvanek); ..., Parkinsonism; dystonia; chorea, drug-induced dyskinesia; action tremor; chronic headache" "1y" "" "" "" "" "" "" "" "" "left leg tremor" "" "0000331320" "00198" "00441937" "00006" "Familial, autosomal recessive" "8y" "see paper (Skorvanek); ..., infantile onset; Parkinsonism; ataxia; action tremor; intellectual disability; growth retardation" "" "" "" "" "" "" "" "" "" "" "" "0000331321" "00198" "00441938" "00006" "Familial, autosomal recessive" "31y" "see paper (Skorvanek); ..., dystonia; chorea; intellectual disability" "15m" "" "" "" "" "" "" "" "" "ballistic movements and developmental regression" "" "0000331322" "00198" "00441939" "00006" "Familial, autosomal recessive" "15y" "see paper (Skorvanek); ..., ataxia; spasticity, hypotonia; seizures; intellectual disability; growth retardation; congenital atrial septum defect, strabismus, visual impairment, weakness, severe obstipation, sleep problems" "<1y" "" "" "" "" "" "" "" "" "general muscle weakness, hypotonia, ataxia" "" "0000331323" "00198" "00441940" "00006" "Familial, autosomal recessive" "10y6m" "see paper (Skorvanek); ..., spasticity, hypotonia; seizures; intellectual disability; growth retardation; congenital septal defect, strabismus, obstipation, sleeping problems" "<1y" "" "" "" "" "" "" "" "" "developmental delay" "" "0000331324" "00198" "00441941" "00006" "Familial, autosomal recessive" "11y" "see paper (Skorvanek); ..., Parkinsonism; dystonia; chorea, drug-induced dyskinesia; action tremor; seizures; oculogyric crisis, ptosis, supranuclear gaze palsy, exotropia" "<9m" "" "" "" "" "" "" "" "" "trunk instability, occasional jerks" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000092433" "00092293" "1" "01856" "01856" "2016-12-22 13:50:02" "00006" "2021-02-01 08:38:50" "SEQ;SEQ-NG" "DNA" "" "WES" "0000119562" "00119093" "1" "02236" "02236" "2017-09-07 11:48:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000119563" "00119094" "1" "02236" "02236" "2017-09-07 12:05:07" "" "" "SEQ-NG" "DNA" "" "" "0000119564" "00119095" "1" "02236" "02236" "2017-09-07 12:09:19" "" "" "SEQ-NG" "DNA" "" "" "0000119565" "00119096" "1" "02236" "02236" "2017-09-07 12:11:30" "" "" "SEQ-NG" "DNA" "" "" "0000119566" "00119097" "1" "02236" "02236" "2017-09-07 12:12:49" "00006" "2017-09-08 13:34:48" "SEQ" "DNA" "" "" "0000330037" "00328822" "1" "01856" "00006" "2021-02-01 09:14:21" "" "" "SEQ" "DNA" "" "WES" "0000330043" "00328827" "1" "00006" "00006" "2021-02-01 10:16:10" "" "" "SEQ-NG" "DNA" "" "" "0000330044" "00328829" "1" "00006" "00006" "2021-02-01 10:23:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000443414" "00441929" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443415" "00441930" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443416" "00441931" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443417" "00441932" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443418" "00441933" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443419" "00441934" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443420" "00441935" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443421" "00441936" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443422" "00441937" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443423" "00441938" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443424" "00441939" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443425" "00441940" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443426" "00441941" "1" "00006" "00006" "2023-11-15 14:04:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000092433" "WARS2" "0000330037" "WARS2" ## 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 = 59 "{{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}}" "0000002260" "0" "50" "1" "119628103" "119628103" "dup" "0" "00037" "WARS2_000002" "g.119628103dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119085480dup" "" "VUS" "" "0000003478" "0" "50" "1" "119627227" "119627227" "subst" "0" "00037" "WARS2_000004" "g.119627227C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119084604C>T" "" "VUS" "" "0000003479" "0" "50" "1" "119627856" "119627856" "subst" "0" "00037" "WARS2_000001" "g.119627856C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119085233C>T" "" "VUS" "" "0000010306" "0" "50" "1" "119628103" "119628103" "dup" "0" "00037" "WARS2_000002" "g.119628103dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119085480dup" "" "VUS" "" "0000011448" "0" "50" "1" "119627856" "119627856" "subst" "0" "00037" "WARS2_000001" "g.119627856C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119085233C>T" "" "VUS" "" "0000011449" "3" "50" "1" "119666565" "119666565" "subst" "0" "00037" "WARS2_000003" "g.119666565A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.119123942A>G" "" "VUS" "" "0000150757" "21" "50" "1" "119683231" "119683231" "subst" "0.00321762" "01856" "WARS2_000007" "g.119683231A>C" "" "{PMID:Musante 2017:28236339}, {DOI:Musante 2017:10.1002/humu.23205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119140608A>C" "" "VUS" "" "0000150759" "11" "70" "1" "119619001" "119619001" "del" "0" "01856" "WARS2_000006" "g.119619001del" "" "{PMID:Musante 2017:28236339}, {DOI:Musante 2017:10.1002/humu.23205}" "" "325delA" "" "Germline" "yes" "" "0" "" "" "g.119076378del" "" "likely pathogenic (recessive)" "" "0000195682" "11" "90" "1" "119616262" "119627955" "del" "0" "02236" "WARS2_000009" "g.119616262_119627955del" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "g.119591860_119627955del36096" "" "Germline" "" "" "0" "" "" "g.119073639_119085332del" "" "pathogenic" "" "0000195683" "21" "90" "1" "119575572" "119575572" "subst" "8.12665E-6" "02236" "WARS2_000008" "g.119575572C>G" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "" "" "0" "" "" "g.119032949C>G" "" "pathogenic (recessive)" "" "0000195684" "11" "90" "1" "119575822" "119575822" "del" "0" "02236" "WARS2_000011" "g.119575822del" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "797delC" "" "Germline" "yes" "" "0" "" "" "g.119033199del" "" "pathogenic (recessive)" "" "0000195685" "21" "90" "1" "119575679" "119575679" "subst" "0.000259886" "02236" "WARS2_000010" "g.119575679T>A" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119033056T>A" "" "pathogenic (recessive)" "" "0000195686" "1" "90" "1" "119619090" "119619090" "subst" "1.22021E-5" "02236" "WARS2_000014" "g.119619090G>C" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "" "" "0" "" "" "g.119076467G>C" "" "pathogenic (recessive)" "" "0000195687" "3" "90" "1" "119576820" "119576820" "subst" "0" "02236" "WARS2_000013" "g.119576820C>G" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "" "" "0" "" "" "g.119034197C>G" "" "pathogenic (recessive)" "" "0000195688" "21" "90" "1" "119619187" "119619187" "subst" "0" "02236" "WARS2_000012" "g.119619187C>A" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "" "" "0" "" "" "g.119076564C>A" "" "pathogenic (recessive)" "" "0000195689" "11" "90" "1" "119575679" "119575679" "subst" "0.000259886" "02236" "WARS2_000010" "g.119575679T>A" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "" "" "0" "" "" "g.119033056T>A" "" "pathogenic (recessive)" "" "0000714460" "21" "50" "1" "119683231" "119683231" "subst" "0.00321762" "01856" "WARS2_000007" "g.119683231A>C" "" "{PMID:Musante 2017:28236339}, {DOI:Musante 2017:10.1002/humu.23205}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119140608A>C" "" "VUS" "" "0000714461" "11" "70" "1" "119619001" "119619001" "del" "0" "01856" "WARS2_000006" "g.119619001del" "" "{PMID:Musante 2017:28236339}, {DOI:Musante 2017:10.1002/humu.23205}" "" "325delA" "" "Germline" "yes" "" "0" "" "" "g.119076378del" "" "likely pathogenic (recessive)" "" "0000714468" "2" "90" "1" "119575563" "119575563" "subst" "9.75983E-5" "00006" "WARS2_000015" "g.119575563C>T" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714469" "11" "90" "1" "119575822" "119575822" "del" "0" "00006" "WARS2_000011" "g.119575822del" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "797delC" "" "Germline" "yes" "" "0" "" "" "g.119033199del" "" "pathogenic (recessive)" "" "0000714470" "21" "90" "1" "119575679" "119575679" "subst" "0.000259886" "02236" "WARS2_000010" "g.119575679T>A" "" "{PMID:Wortmann 2017:28905505}, {DOI:Wortmann 2017:10.1002/humu.23340}" "" "" "" "Germline" "yes" "" "0" "" "" "g.119033056T>A" "" "pathogenic (recessive)" "" "0000714471" "21" "90" "1" "119575679" "119575679" "subst" "0.000259886" "00006" "WARS2_000010" "g.119575679T>A" "" "{PMID:Theisen 2017:28650581}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714472" "11" "90" "1" "119619021" "119619023" "del" "8.14027E-6" "00006" "WARS2_000016" "g.119619021_119619023del" "" "{PMID:Theisen 2017:28650581}" "" "298_300delCTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000798705" "0" "70" "1" "119575679" "119575679" "subst" "0.000259886" "01943" "WARS2_000010" "g.119575679T>A" "" "" "" "WARS2(NM_015836.3):c.938A>T (p.K313M), WARS2(NM_015836.4):c.938A>T (p.(Lys313Met), p.K313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000798706" "0" "90" "1" "119575679" "119575679" "subst" "0.000259886" "02325" "WARS2_000010" "g.119575679T>A" "" "" "" "WARS2(NM_015836.3):c.938A>T (p.K313M), WARS2(NM_015836.4):c.938A>T (p.(Lys313Met), p.K313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798707" "0" "90" "1" "119575822" "119575822" "del" "0" "02325" "WARS2_000011" "g.119575822del" "" "" "" "WARS2(NM_015836.4):c.797delC (p.P266Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798708" "0" "50" "1" "119575877" "119575877" "subst" "0" "01943" "WARS2_000017" "g.119575877A>G" "" "" "" "WARS2(NM_015836.3):c.740T>C (p.I247T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848258" "0" "70" "1" "119683231" "119683231" "subst" "0.00321762" "02325" "WARS2_000007" "g.119683231A>C" "" "" "" "WARS2(NM_015836.4):c.37T>G (p.(Trp13Gly), p.W13G), WARS2(NM_201263.2):c.37T>G (p.W13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910757" "0" "30" "1" "119584950" "119584950" "subst" "0.00174236" "02325" "WARS2_000018" "g.119584950T>C" "" "" "" "WARS2(NM_015836.4):c.452A>G (p.H151R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922926" "0" "90" "1" "119683231" "119683231" "subst" "0.00321762" "02329" "WARS2_000007" "g.119683231A>C" "" "" "" "WARS2(NM_015836.4):c.37T>G (p.(Trp13Gly), p.W13G), WARS2(NM_201263.2):c.37T>G (p.W13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944836" "11" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944837" "11" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944838" "11" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944839" "11" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944840" "21" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944841" "21" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944842" "21" "90" "1" "119575822" "119575822" "del" "0" "00006" "WARS2_000011" "g.119575822del" "" "{PMID:Skorvanek 2022:34890876}" "" "797delC" "" "Germline" "" "" "0" "" "" "g.119033199del" "" "pathogenic (recessive)" "" "0000944843" "21" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Vantroys 2018:29783990}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944844" "1" "90" "1" "119575822" "119575822" "del" "0" "00006" "WARS2_000011" "g.119575822del" "" "{PMID:Burke 2018:29120065}" "" "" "" "Germline" "" "" "0" "" "" "g.119033199del" "" "pathogenic (recessive)" "" "0000944845" "11" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Virdee 2019:31282308}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944846" "21" "90" "1" "119575784" "119575784" "subst" "0.000163953" "00006" "WARS2_000019" "g.119575784A>C" "" "{PMID:Maffezzini 2019:30920170}" "" "" "" "Germline" "" "" "0" "" "" "g.119033161A>C" "" "pathogenic (recessive)" "" "0000944847" "21" "90" "1" "119575784" "119575784" "subst" "0.000163953" "00006" "WARS2_000019" "g.119575784A>C" "" "{PMID:Maffezzini 2019:30920170}" "" "" "" "Germline" "" "" "0" "" "" "g.119033161A>C" "" "pathogenic (recessive)" "" "0000944848" "1" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "{PMID:Martinelli 2020:32120303}" "" "" "" "Germline" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000944849" "20" "90" "1" "119616262" "119627955" "del" "0" "00006" "WARS2_000009" "g.119616262_119627955del" "" "{PMID:Skorvanek 2022:34890876}" "" "del ex2" "" "Germline" "" "" "0" "" "" "g.119073639_119085332del" "" "pathogenic (recessive)" "" "0000944850" "20" "90" "1" "119616262" "119627955" "del" "0" "00006" "WARS2_000009" "g.119616262_119627955del" "" "{PMID:Skorvanek 2022:34890876}" "" "del ex2" "" "Germline" "" "" "0" "" "" "g.119073639_119085332del" "" "pathogenic (recessive)" "" "0000944851" "21" "90" "1" "119619026" "119619028" "del" "0" "00006" "WARS2_000016" "g.119619026_119619028del" "" "{PMID:Skorvanek 2022:34890876}" "" "298_300delCTT" "" "Germline" "" "" "0" "" "" "g.119076403_119076405del" "" "pathogenic (recessive)" "" "0000944852" "21" "90" "1" "119619026" "119619028" "del" "0" "00006" "WARS2_000016" "g.119619026_119619028del" "" "{PMID:Skorvanek 2022:34890876}" "" "298_300delCTT" "" "Germline" "" "" "0" "" "" "g.119076403_119076405del" "" "pathogenic (recessive)" "" "0000944853" "11" "90" "1" "119619172" "119619172" "subst" "0" "00006" "WARS2_000023" "g.119619172C>T" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119076549C>T" "" "pathogenic (recessive)" "" "0000944854" "11" "90" "1" "119576730" "119576730" "subst" "0" "00006" "WARS2_000022" "g.119576730C>A" "" "{PMID:Skorvanek 2022:34890876}" "" "" "" "Germline" "" "" "0" "" "" "g.119034107C>A" "" "pathogenic (recessive)" "" "0000944855" "11" "90" "1" "119575679" "119575679" "subst" "0.000259886" "00006" "WARS2_000010" "g.119575679T>A" "" "{PMID:Vantroys 2018:29783990}" "" "" "" "Germline" "" "" "0" "" "" "g.119033056T>A" "" "pathogenic (recessive)" "" "0000944856" "11" "90" "1" "119575934" "119575934" "subst" "0" "00006" "WARS2_000020" "g.119575934G>C" "" "{PMID:Burke 2018:29120065}" "" "" "" "Germline" "" "" "0" "" "" "g.119033311G>C" "" "pathogenic (recessive)" "" "0000944857" "2" "90" "1" "119575679" "119575679" "subst" "0.000259886" "00006" "WARS2_000010" "g.119575679T>A" "" "{PMID:Virdee 2019:31282308}" "" "" "" "Germline" "" "" "0" "" "" "g.119033056T>A" "" "pathogenic (recessive)" "" "0000944858" "21" "90" "1" "119619172" "119619172" "subst" "0" "00006" "WARS2_000023" "g.119619172C>T" "" "{PMID:Hubers 2019:31970218}" "" "" "" "Germline" "" "" "0" "" "" "g.119076549C>T" "" "pathogenic (recessive)" "" "0000944859" "11" "90" "1" "119575679" "119575679" "subst" "0.000259886" "00006" "WARS2_000010" "g.119575679T>A" "" "{PMID:Maffezzini 2019:30920170}" "" "" "" "Germline" "" "" "0" "" "" "g.119033056T>A" "" "pathogenic (recessive)" "" "0000944860" "11" "90" "1" "119575679" "119575679" "subst" "0.000259886" "00006" "WARS2_000010" "g.119575679T>A" "" "{PMID:Maffezzini 2019:30920170}" "" "" "" "Germline" "" "" "0" "" "" "g.119033056T>A" "" "pathogenic (recessive)" "" "0000944861" "2" "90" "1" "119575938" "119575938" "subst" "0" "00006" "WARS2_000021" "g.119575938T>C" "" "{PMID:Martinelli 2020:32120303}" "" "" "" "Germline" "" "" "0" "" "" "g.119033315T>C" "" "pathogenic (recessive)" "" "0000944862" "0" "90" "1" "119683231" "119683231" "subst" "0.00321762" "00006" "WARS2_000007" "g.119683231A>C" "" "" "" "" "hypomorphic variant; 6 apparently healthy homozygous carriers in gnomAD; to date all individuals with a childhood- or early adulthood-onset movement disorder have this hypomorphic in trans with a WARS2 pathogenic variant" "SUMMARY record" "" "" "0" "" "" "g.119140608A>C" "" "pathogenic (!)" "" "0000973217" "0" "90" "1" "119575679" "119575679" "subst" "0.000259886" "01804" "WARS2_000010" "g.119575679T>A" "" "" "" "WARS2(NM_015836.3):c.938A>T (p.K313M), WARS2(NM_015836.4):c.938A>T (p.(Lys313Met), p.K313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000973218" "0" "70" "1" "119683231" "119683231" "subst" "0.00321762" "01804" "WARS2_000007" "g.119683231A>C" "" "" "" "WARS2(NM_015836.4):c.37T>G (p.(Trp13Gly), p.W13G), WARS2(NM_201263.2):c.37T>G (p.W13G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 WARS2 ## Count = 59 "{{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}}" "0000002260" "00001006" "50" "91" "-8867" "91" "-8867" "c.91-8867dup" "r.(=)" "p.(=)" "1i" "0000003478" "00001006" "50" "91" "-7997" "91" "-7997" "c.91-7997G>A" "r.(=)" "p.(=)" "1i" "0000003479" "00001006" "50" "91" "-8626" "91" "-8626" "c.91-8626G>A" "r.(=)" "p.(=)" "1i" "0000010306" "00001006" "50" "91" "-8867" "91" "-8867" "c.91-8867dup" "r.(=)" "p.(=)" "1i" "0000011448" "00001006" "50" "91" "-8626" "91" "-8626" "c.91-8626G>A" "r.(=)" "p.(=)" "1i" "0000011449" "00001006" "50" "90" "16613" "90" "16613" "c.90+16613T>C" "r.(=)" "p.(=)" "1i" "0000150757" "00001006" "50" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "1" "0000150759" "00001006" "70" "325" "0" "325" "0" "c.325del" "r.(?)" "p.(Ser109Alafs*15)" "2" "0000195682" "00001006" "50" "91" "-8725" "348" "2711" "c.91-8725_348+2711del" "r.(?)" "p.(Lys31_Gln116del)" "1i_2i" "0000195683" "00001006" "90" "1045" "0" "1045" "0" "c.1045G>C" "r.(?)" "p.(Val349Leu)" "6" "0000195684" "00001006" "90" "797" "0" "797" "0" "c.797del" "r.(?)" "p.(Pro266Argfs*10)" "6" "0000195685" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "6" "0000195686" "00001006" "90" "231" "0" "231" "0" "c.231C>G" "r.(?)" "p.(His77Gln)" "2" "0000195687" "00001006" "90" "532" "0" "532" "0" "c.532G>C" "r.(?)" "p.(Val178Leu)" "5" "0000195688" "00001006" "90" "134" "0" "134" "0" "c.134G>T" "r.(?)" "p.(Gly45Val)" "2" "0000195689" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "6" "0000714460" "00001006" "50" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "1" "0000714461" "00001006" "70" "325" "0" "325" "0" "c.325del" "r.(?)" "p.(Ser109Alafs*15)" "2" "0000714468" "00001006" "90" "1054" "0" "1054" "0" "c.1054G>A" "r.(?)" "p.(Glu352Lys)" "" "0000714469" "00001006" "90" "797" "0" "797" "0" "c.797del" "r.(?)" "p.(Pro266Argfs*10)" "6" "0000714470" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "6" "0000714471" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000714472" "00001006" "90" "298" "0" "300" "0" "c.298_300del" "r.(?)" "p.(Leu100del)" "" "0000798705" "00001006" "70" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000798706" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000798707" "00001006" "90" "797" "0" "797" "0" "c.797del" "r.(?)" "p.(Pro266Argfs*10)" "" "0000798708" "00001006" "50" "740" "0" "740" "0" "c.740T>C" "r.(?)" "p.(Ile247Thr)" "" "0000848258" "00001006" "70" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000910757" "00001006" "30" "452" "0" "452" "0" "c.452A>G" "r.(?)" "p.(His151Arg)" "" "0000922926" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944836" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944837" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944838" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944839" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944840" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944841" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944842" "00001006" "90" "797" "0" "797" "0" "c.797delC" "r.(?)" "p.(Pro266ArgfsTer10)" "" "0000944843" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944844" "00001006" "90" "797" "0" "797" "0" "c.797del" "r.(?)" "p.(Pro266ArgfsTer10)" "" "0000944845" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944846" "00001006" "90" "833" "0" "833" "0" "c.833T>G" "r.(?)" "p.(Val278Gly)" "" "0000944847" "00001006" "90" "833" "0" "833" "0" "c.833T>G" "r.(?)" "p.(Val278Gly)" "" "0000944848" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000944849" "00001006" "90" "91" "-8725" "348" "2711" "c.91-8725_348+2711del" "r.(91_348del)" "p.(Lys31_Gln116del)" "1i_2i" "0000944850" "00001006" "90" "91" "-8725" "348" "2711" "c.91-8725_348+2711del" "r.(91_348del)" "p.(Lys31_Gln116del)" "1i_2i" "0000944851" "00001006" "90" "298" "0" "300" "0" "c.298_300del" "r.(?)" "p.(Leu100del)" "" "0000944852" "00001006" "90" "298" "0" "300" "0" "c.298_300del" "r.(?)" "p.(Leu100del)" "" "0000944853" "00001006" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000944854" "00001006" "90" "622" "0" "622" "0" "c.622G>T" "r.(?)" "p.(Glu208Ter)" "" "0000944855" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000944856" "00001006" "90" "683" "0" "683" "0" "c.683C>G" "r.(?)" "p.(Ser228Trp)" "" "0000944857" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000944858" "00001006" "90" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" "0000944859" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000944860" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000944861" "00001006" "90" "679" "0" "679" "0" "c.679A>G" "r.(?)" "p.(Met227Val)" "" "0000944862" "00001006" "90" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" "0000973217" "00001006" "90" "938" "0" "938" "0" "c.938A>T" "r.(?)" "p.(Lys313Met)" "" "0000973218" "00001006" "70" "37" "0" "37" "0" "c.37T>G" "r.(?)" "p.(Trp13Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002260" "0000000209" "0000003478" "0000000209" "0000003479" "0000000210" "0000010306" "0000000210" "0000011448" "0000000210" "0000011449" "0000092433" "0000150757" "0000092433" "0000150759" "0000119562" "0000195682" "0000119562" "0000195683" "0000119563" "0000195684" "0000119563" "0000195685" "0000119564" "0000195686" "0000119564" "0000714468" "0000119565" "0000195687" "0000119566" "0000195688" "0000119566" "0000195689" "0000330037" "0000714460" "0000330037" "0000714461" "0000330043" "0000714469" "0000330043" "0000714470" "0000330044" "0000714471" "0000330044" "0000714472" "0000443414" "0000944836" "0000443414" "0000944849" "0000443415" "0000944837" "0000443415" "0000944850" "0000443416" "0000944838" "0000443416" "0000944851" "0000443417" "0000944839" "0000443417" "0000944852" "0000443418" "0000944840" "0000443418" "0000944853" "0000443419" "0000944841" "0000443419" "0000944854" "0000443420" "0000944842" "0000443420" "0000944855" "0000443421" "0000944843" "0000443421" "0000944856" "0000443422" "0000944844" "0000443422" "0000944857" "0000443423" "0000944845" "0000443423" "0000944858" "0000443424" "0000944846" "0000443424" "0000944859" "0000443425" "0000944847" "0000443425" "0000944860" "0000443426" "0000944848" "0000443426" "0000944861"