### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLUL) # 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}}" "GLUL" "glutamate-ammonia ligase" "1" "q31" "unknown" "NC_000001.10" "UD_132118386277" "" "https://www.LOVD.nl/GLUL" "" "1" "4341" "2752" "138290" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/GLUL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-04-19 18:06:02" "00006" "2026-02-06 11:55:49" ## 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}}" "00025921" "GLUL" "transcript variant 2" "001" "NM_001033044.2" "" "NP_001028216.1" "" "" "" "-541" "3823" "1122" "182361341" "182350839" "00006" "2024-04-19 17:53:42" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02890" "GLND" "glutamine deficiency, congenital" "AR" "610015" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-05 19:37:35" "05470" "PVNH" "periventricular nodular heterotopia" "AR" "" "" "" "" "00006" "2018-08-24 17:01:59" "00006" "2023-11-05 11:30:38" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07101" "DEE116" "encephalopathy, developmental and epileptic, type 116" "AD" "620806" "" "" "" "00006" "2024-09-05 19:39:40" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "GLUL" "02890" "GLUL" "06906" "GLUL" "07101" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00449531" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat1" "00449532" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat2" "00449533" "" "" "" "1" "" "00006" "{PMID:Heinzen:29738522}, {PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "1" "" "" "" "pvhnz3438bvf1;Pat3" "00449534" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "South Africa" "" "0" "" "" "" "Pat4" "00449535" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "patients" "F" "" "United States" "" "0" "" "" "" "Pat5" "00449536" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat6" "00449537" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Italy" "" "0" "" "" "" "Pat7" "00449538" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "Pat8" "00449539" "" "" "" "1" "" "00006" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "" "Pat9" "00453482" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "303626" "00472252" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "M" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00449531" "06906" "00449532" "06906" "00449533" "05470" "00449533" "06906" "00449534" "06906" "00449535" "06906" "00449536" "06906" "00449537" "06906" "00449538" "06906" "00449539" "06906" "00453482" "06906" "00472252" "02890" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02890, 05470, 06906, 07101 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000338706" "06906" "00449531" "00006" "Isolated (sporadic)" "" "plasma glutamine normal; cerebrospinal fluid glutamine low; ammonia normal; 2m-epilepsy, generalized tonic-clonic seizure; epilepsy type generalized; developmental and epileptic encephalopathy; EEG generalized paroxysmal fast activity, generalized slow spike-wave discharges (awake EEG); seizures daily; treatment response refractory; global developmental delay; MRI prominent perivascular spaces, thinning corpus callosum, demyelination/hypomyelination" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338707" "06906" "00449532" "00006" "Isolated (sporadic)" "" "plasma glutamine borderline low; cerebrospinal fluid glutamine normal; ammonia normal; cerebrospinal fluid neurotransmitters normal; 8m-epilepsy, focal, generalized; epilepsy type combined focal and generalized; likely developmental and epileptic encephalopathy; EEG focal electroclinical seizure, persistent hemispheric asymmetry, no interictal epileptiform features; seizures 1-6 per week; treatment response ketogenic diet; global developmental delay; MRI prominent perivascular spaces, thinning corpus callosum, demyelination/hypomyelination" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338708" "06906" "00449533" "00006" "Isolated (sporadic)" "" "global developmental delay" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338709" "06906" "00449534" "00006" "Isolated (sporadic)" "" "plasma glutamine normal; ammonia normal; 70d-epilepsy, tonic, focal clonic, myoclonic atonic, generalized tonic-clonic seizure; epilepsy type combined focal and generalized; developmental and epileptic encephalopathy; EEG generalized encephalopathy with slow spike and wave; seizures multiple daily; treatment response refractory; global developmental delay; MRI prominent perivascular spaces, thinning corpus callosum, demyelination/hypomyelination" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338710" "06906" "00449535" "00006" "Unknown" "" "plasma glutamine normal; cerebrospinal fluid glutamine normal; 8m-epilepsy, generalized tonic-clonic seizure; epilepsy type generalized; developmental and epileptic encephalopathy; EEG encephalopathic; treatment response refractory; global developmental delay; MRI demyelination/hypomyelination" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338711" "06906" "00449536" "00006" "Isolated (sporadic)" "" "plasma glutamine normal; cerebrospinal fluid glutamine normal; 6m-epilepsy, tonic, myoclonic, generalized tonic-clonic seizure; epilepsy type combined focal and generalized; developmental and epileptic encephalopathy; EEG several generalized tonic-clonic seizure captured, multifocal discharges, encephalopathic background; seizures daily; treatment response refractory; global developmental delay; MRI demyelination/hypomyelination" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338712" "06906" "00449537" "00006" "Isolated (sporadic)" "" "plasma glutamine borderline low; cerebrospinal fluid glutamine high; 11m-epilepsy, generalized tonic-clonic seizure; epilepsy type generalized; developmental and epileptic encephalopathy; EEG disorganized, generalized slowing; seizures sporadic; treatment response ; global developmental delay; MRI prominent perivascular spaces, thinning corpus callosum, demyelination/hypomyelination" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338713" "06906" "00449538" "00006" "Isolated (sporadic)" "" "plasma glutamine normal; cerebrospinal fluid glutamine normal; cerebrospinal fluid neurotransmitters normal; 22m-epilepsy, myoclonic, generalized tonic-clonic seizure, absence; epilepsy type generalized; developmental and epileptic encephalopathy; EEG frequent myoclonic seizures, generalized spike and wave; seizures 50-100 per day; treatment response refractory; global developmental delay" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000338714" "06906" "00449539" "00006" "Isolated (sporadic)" "" "plasma glutamine normal" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "0000342144" "06906" "00453482" "01164" "Isolated (sporadic)" "10y" "Neurodevelopmental delay, Epileptic encephalopathy, Microcephaly" "" "" "" "" "" "" "" "DEE116" "developmental and epileptic encephalopathy" "0000357061" "02890" "00472252" "04653" "Familial, autosomal recessive" "" "0005684: Distal arthrogryposis, 0000954: Single transverse palmar crease" "" "" "" "" "" "" "" "GLND" "Congenital arthrogryposis" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000451122" "00449531" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451123" "00449532" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451124" "00449533" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451125" "00449534" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451126" "00449535" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451127" "00449536" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451128" "00449537" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451129" "00449538" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000451130" "00449539" "1" "00006" "00006" "2024-04-19 18:53:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455096" "00453482" "1" "01164" "01164" "2024-09-05 12:39:44" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000473922" "00472252" "1" "04653" "04653" "2026-01-20 12:31:48" "" "" "SEQ-NG-I" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000455096" "GLUL" ## 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 = 15 "{{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}}" "0000248472" "0" "10" "1" "182356399" "182356399" "subst" "0.570515" "02325" "GLUL_000001" "g.182356399A>G" "" "" "" "GLUL(NM_002065.7):c.195T>C (p.S65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.182387264A>G" "" "benign" "" "0000717020" "0" "30" "1" "182356258" "182356259" "dup" "0" "01943" "GLUL_000002" "g.182356258_182356259dup" "" "" "" "GLUL(NM_002065.6):c.328+9_328+10dupTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000973118" "0" "90" "1" "182357870" "182357870" "subst" "0" "00006" "GLUL_000003" "g.182357870C>T" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "De novo" "" "" "0" "" "" "g.182388735C>T" "" "pathogenic (dominant)" "" "0000973119" "0" "90" "1" "182357872" "182357872" "subst" "0" "00006" "GLUL_000004" "g.182357872T>A" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "De novo" "" "" "0" "" "" "g.182388737T>A" "" "pathogenic (dominant)" "" "0000973120" "0" "90" "1" "182357872" "182357872" "subst" "0" "00006" "GLUL_000005" "g.182357872T>G" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}, {PMID:Heinzen:29738522}" "" "" "" "De novo" "" "" "0" "" "" "g.182388737T>G" "" "pathogenic (dominant)" "" "0000973121" "0" "90" "1" "182357872" "182357872" "subst" "0" "00006" "GLUL_000006" "g.182357872T>C" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "De novo" "" "" "0" "" "" "g.182388737T>C" "" "pathogenic (dominant)" "" "0000973122" "0" "90" "1" "182357872" "182357872" "subst" "0" "00006" "GLUL_000006" "g.182357872T>C" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.182388737T>C" "" "pathogenic (dominant)" "" "0000973123" "0" "90" "1" "182357872" "182357872" "subst" "0" "00006" "GLUL_000006" "g.182357872T>C" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "De novo" "" "" "0" "" "" "g.182388737T>C" "" "pathogenic (dominant)" "" "0000973124" "0" "90" "1" "182357886" "182357886" "subst" "0" "00006" "GLUL_000007" "g.182357886C>T" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "De novo" "" "" "0" "" "" "g.182388751C>T" "" "pathogenic (dominant)" "" "0000973125" "0" "90" "1" "182357887" "182357887" "subst" "0" "00006" "GLUL_000008" "g.182357887T>C" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "De novo" "" "" "0" "" "" "g.182388752T>C" "" "pathogenic (dominant)" "" "0000973126" "0" "90" "1" "182357872" "182357872" "subst" "0" "00006" "GLUL_000006" "g.182357872T>C" "" "{PMID:Jones 2024:38579670}, {DOI:Jones 2024:10.1016/j.ajhg.2024.03.005}" "" "" "" "De novo" "" "" "0" "" "" "g.182388737T>C" "" "pathogenic (dominant)" "" "0001007097" "0" "70" "1" "182357872" "182357872" "subst" "0" "01164" "GLUL_000006" "g.182357872T>C" "" "" "" "" "ACMG: PVS1_STR, PS1, PS2_SUP, PM2_SUP; PubMed 38579670" "De novo" "-" "" "0" "" "" "g.182388737T>C" "VCV001194257.5" "pathogenic (dominant)" "ACMG" "0001050371" "0" "50" "1" "182353608" "182353608" "subst" "0" "01804" "GLUL_000009" "g.182353608T>C" "" "" "" "GLUL(NM_001033044.4):c.1054A>G (p.(Thr352Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062892" "11" "70" "1" "182353637" "182353637" "subst" "0" "04653" "GLUL_000010" "g.182353637G>A" "" "Verebi et al. (submitted)" "" "" "" "Germline" "" "" "0" "" "" "g.182384502G>A" "" "likely pathogenic" "ACMG" "0001063222" "0" "50" "1" "182355468" "182355468" "subst" "4.06448E-6" "02325" "GLUL_000011" "g.182355468A>G" "" "" "" "" "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 GLUL ## Count = 15 "{{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}}" "0000248472" "00025921" "10" "195" "0" "195" "0" "c.195T>C" "r.(?)" "p.(Ser65=)" "" "0000717020" "00025921" "30" "328" "9" "328" "10" "c.328+9_328+10dup" "r.(=)" "p.(=)" "" "0000973118" "00025921" "90" "3" "0" "3" "0" "c.3G>A" "r.(1g>a)" "p.Thr2_Met18del" "2" "0000973119" "00025921" "90" "1" "0" "1" "0" "c.1A>T" "r.(1a>u)" "p.Thr2_Met18del" "2" "0000973120" "00025921" "90" "1" "0" "1" "0" "c.1A>C" "r.(1a>c)" "p.Thr2_Met18del" "2" "0000973121" "00025921" "90" "1" "0" "1" "0" "c.1A>G" "r.(1a>g)" "p.Thr2_Met18del" "2" "0000973122" "00025921" "90" "1" "0" "1" "0" "c.1A>G" "r.(1a>g)" "p.Thr2_Met18del" "2" "0000973123" "00025921" "90" "1" "0" "1" "0" "c.1A>G" "r.(1a>g)" "p.Thr2_Met18del" "2" "0000973124" "00025921" "90" "-13" "-1" "-13" "-1" "c.-13-1G>A" "r.(-13_13del)" "p.Thr2_Met18del" "1i" "0000973125" "00025921" "90" "-13" "-2" "-13" "-2" "c.-13-2A>G" "r.-13_13del" "p.Thr2_Met18del" "1i" "0000973126" "00025921" "90" "1" "0" "1" "0" "c.1A>G" "r.(1a>g)" "p.Thr2_Met18del" "2" "0001007097" "00025921" "70" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" "1" "0001050371" "00025921" "50" "1054" "0" "1054" "0" "c.1054A>G" "r.(?)" "p.(Thr352Ala)" "" "0001062892" "00025921" "70" "1025" "0" "1025" "0" "c.1025C>T" "r.(?)" "p.(Arg925Ter)" "7" "0001063222" "00025921" "50" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Met133Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000451122" "0000973118" "0000451123" "0000973119" "0000451124" "0000973120" "0000451125" "0000973121" "0000451126" "0000973122" "0000451127" "0000973123" "0000451128" "0000973124" "0000451129" "0000973125" "0000451130" "0000973126" "0000455096" "0001007097" "0000473922" "0001062892"