### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-TL1) # 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}}" "MT-TL1" "mitochondrially encoded tRNA leucine 1 (UUA/G)" "M" "" "no" "NC_012920.1" "NC_012920.1" "" "https://www.LOVD.nl/MT-TL1" "" "1" "7490" "4567" "590050" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00006" "2018-08-24 19:46:42" "" "" "00006" "2024-05-30 14:19:34" ## 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}}" "00025319" "MT-TL1" "transcript variant 1" "001" "NC_012920.1(TRNL1_v001)" "" "" "" "" "" "1" "75" "75" "3230" "3304" "00006" "2018-08-24 19:53:04" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02275" "MELAS" "myopathy, mitochondrial, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)" "" "540000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00180181" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat33" "00308521" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00328346" "" "" "" "1" "" "03988" "de Boer 2021, submitted" "" "M" "?" "Netherlands" "" "0" "" "" "" "" "00332052" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat190" "00332053" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat191" "00389404" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 249, unclassified / mixed, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "688" "00389405" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 249, unclassified / mixed, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "689" "00391177" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "M" "" "(Germany)" "" "0" "" "" "" "139" "00430375" "" "" "" "1" "" "00006" "{PMID:Giannese 2023:36404555}" "" "F" "" "Italy" "" "0" "" "" "" "patient" "00435658" "" "" "" "1" "" "04087" "" "" "M" "no" "Germany" "" "" "" "" "" "HN- F163-II-1" "00450883" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071451" "00450884" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071508" "00450885" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071801" "00450886" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072060" "00450887" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072855" "00450888" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "DNA18-14353B" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00180181" "00198" "00308521" "04214" "00328346" "05534" "00332052" "04214" "00332053" "04214" "00389404" "04214" "00389405" "04214" "00391177" "04214" "00430375" "00198" "00435658" "02275" "00450883" "04249" "00450884" "04249" "00450885" "04249" "00450886" "04249" "00450887" "04249" "00450888" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02275, 04214, 04249, 05534 ## Count = 16 "{{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}}" "0000142635" "00198" "00180181" "00006" "Maternal, mitochondrial" "" "Epilepsy (HP:0001250), generalized myoclonic seizures (HP:0002123), sensorineural hearing impairment (HP:0000407), glucose-intolerance (HP:0001952), stroke-like episodes (HP:0002401)." "" "" "" "" "" "" "" "" "" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000233949" "04214" "00308521" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246573" "05534" "00328346" "03988" "Maternal, mitochondrial" "" "Severe intellectual disability, brain imaging abnormalities (pachygyria, polymicrogyria, white matter abnormalities, in retrospect signs of stroke on brain CT), spastic tetraparesis, oral dystonia and dystonia of hands and feet, epilepsy, episodic headaches with nausea and emesis, adverse drug reactions, feeding difficulties, secondary microcephaly in childhood, low body weight, drooling, severe progressive neuromuscular scoliosis and congenital hip dysplasia, dental and gingival abnormalities, facial dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000250243" "04214" "00332052" "00000" "Maternal, mitochondrial" "55y" "incidental finding; scotopic ERG not analyzable; photopic ERG not analyzable" "55y" "" "incidental finding" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250244" "04214" "00332053" "00000" "Maternal, mitochondrial" "49y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "47y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000282945" "04214" "00389404" "00000" "Familial, autosomal dominant" "70y" "age at genetic diagnosis mentioned" "" "68y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000282946" "04214" "00389405" "00000" "Familial, autosomal dominant" "60y" "age at genetic diagnosis mentioned" "" "58y" "" "" "" "" "" "" "unclassified / mixed" "" "" "0000284619" "04214" "00391177" "00000" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000321172" "00198" "00430375" "00006" "Isolated (sporadic)" "49y" "see paper; ..., encephalomyopathy, chronic proteinuric kidney disease; adulthood migraine; 38y-progressive sensorineural hearing loss, fatigue, bilateral cataracts, pigmented retinopathy; muscle biopsy myopathic changes, scattered ragged red/blue fibers, COX negative fibers" "" "" "" "" "" "" "" "" "" "" "" "0000325842" "02275" "00435658" "04087" "Isolated (sporadic)" "" "HP:0010305, HP:0002023, HP:0004871, HP:0002032, HP:0002750, HP:0006482" "" "" "" "" "" "" "" "" "590050" "VACTERL Assotiation" "" "0000339938" "04249" "00450883" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339939" "04249" "00450884" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339940" "04249" "00450885" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339941" "04249" "00450886" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy-PS" "" "0000339942" "04249" "00450887" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339943" "04249" "00450888" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181084" "00180181" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000309666" "00308521" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000329561" "00328346" "1" "03988" "03988" "2021-01-27 14:12:47" "" "" "SEQ-NG" "DNA" "DNA extracted from whole blood" "" "0000333271" "00332052" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333272" "00332053" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000390647" "00389404" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390648" "00389405" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000392419" "00391177" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000431784" "00430375" "1" "00006" "00006" "2023-01-19 16:27:54" "" "" "SEQ" "DNA" "" "mtDNA Nextera XT technology" "0000437139" "00435658" "1" "04087" "04087" "2023-08-07 13:11:26" "" "" "SEQ-NG" "DNA" "Blood" "" "0000452481" "00450883" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452482" "00450884" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452483" "00450885" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452484" "00450886" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452485" "00450887" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452486" "00450888" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000309666" "MT-TL1" "0000390647" "MT-TL1" "0000390648" "MT-TL1" "0000392419" "MT-TL1" ## 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 = 16 "{{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}}" "0000404720" "20" "90" "M" "3243" "3243" "subst" "0" "00006" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Tumienė 2018:29286531}" "" "m.3243A>G" "60% heteroplasmy (1st sib), 20% heteroplasmy (2nd sib)" "Germline" "" "" "0" "" "" "g.3242=" "" "pathogenic" "ACMG" "0000684539" "0" "70" "M" "3243" "3243" "subst" "0" "00004" "MT-TL1_000001" "m.3243A>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "m.3243A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000713909" "21" "90" "M" "3291" "3291" "subst" "0" "03988" "MT-TL1_000002" "m.3291T>C" "" "de Boer 2021, submitted" "" "" "" "Germline" "" "" "0" "" "" "m.3291T>C" "" "pathogenic" "ACMG" "0000730695" "21" "90" "M" "3243" "3243" "subst" "0" "00000" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "0.17 variant frequency" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000730696" "21" "90" "M" "3243" "3243" "subst" "0" "00000" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Birtel 2018:29555955}" "" "" "0.20 variant frequency" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000819992" "1" "70" "M" "3243" "3243" "subst" "0" "00000" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "mt-TL1, variant 1 :m.3243A>G" "solved, mitochondrial" "Unknown" "?" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "" "0000819993" "1" "70" "M" "3243" "3243" "subst" "0" "00000" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "mt-TL1, variant 1 :m.3243A>G" "solved, mitochondrial" "Unknown" "?" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "" "0000822710" "0" "70" "M" "3243" "3243" "subst" "0" "00000" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Gliem 2020:32646556}" "" "MTTL1 m.3243A>G (17%), n.a." "mosaic 17%" "Unknown" "?" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "" "0000917071" "0" "90" "M" "3275" "3276" "del" "0" "00006" "MT-TL1_000003" "m.3275_3276del" "" "{PMID:Giannese 2023:36404555}" "" "3274_3275delAC" "0.57 heteroplasmy" "Somatic" "" "" "0" "" "" "" "" "pathogenic (maternal)" "" "0000931915" "0" "90" "M" "3243" "3243" "subst" "0" "04087" "MT-TL1_000001" "m.3243A>G" "" "" "" "" "" "De novo" "" "" "" "" "" "m.3243A>G" "" "pathogenic" "ACMG" "0000986464" "1" "70" "M" "3243" "3243" "subst" "0" "04405" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "ACMG" "0000986465" "1" "70" "M" "3243" "3243" "subst" "0" "04405" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "ACMG" "0000986466" "1" "70" "M" "3243" "3243" "subst" "0" "04405" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "ACMG" "0000986467" "1" "70" "M" "3243" "3243" "subst" "0" "04405" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "ACMG" "0000986468" "1" "70" "M" "3243" "3243" "subst" "0" "04405" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "ACMG" "0000986469" "1" "70" "M" "3243" "3243" "subst" "0" "04405" "MT-TL1_000001" "m.3243A>G" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "m.3243A>G" "" "likely pathogenic" "ACMG" ## 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 MT-TL1 ## Count = 16 "{{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}}" "0000404720" "00025319" "90" "14" "0" "14" "0" "n.14A>G" "r.(?)" "-" "-" "0000684539" "00025319" "70" "14" "" "14" "" "m.14A>G" "r.(?)" "p.?" "" "0000713909" "00025319" "90" "62" "0" "62" "0" "n.62T>C" "r.(?)" "-" "" "0000730695" "00025319" "90" "14" "0" "14" "0" "n.14A>G" "r.(?)" "-" "" "0000730696" "00025319" "90" "14" "0" "14" "0" "n.14A>G" "r.(?)" "-" "" "0000819992" "00025319" "70" "3243" "" "3243" "" "m.3243A>G" "r.(?)" "p.(?)" "" "0000819993" "00025319" "70" "3243" "" "3243" "" "m.3243A>G" "r.(?)" "p.(?)" "" "0000822710" "00025319" "70" "3243" "" "3243" "" "m.3243A>G" "r.(?)" "p.(?)" "16" "0000917071" "00025319" "90" "46" "0" "47" "0" "n.46_47del" "r.(?)" "-" "" "0000931915" "00025319" "90" "14" "0" "14" "0" "n.14A>G" "r.(?)" "-" "" "0000986464" "00025319" "70" "14" "0" "14" "0" "n.14A>G" "r.?" "-" "1" "0000986465" "00025319" "70" "14" "0" "14" "0" "n.14A>G" "r.?" "-" "1" "0000986466" "00025319" "70" "14" "0" "14" "0" "n.14A>G" "r.?" "-" "1" "0000986467" "00025319" "70" "14" "0" "14" "0" "n.14A>G" "r.?" "-" "1" "0000986468" "00025319" "70" "14" "0" "14" "0" "n.14A>G" "r.?" "-" "1" "0000986469" "00025319" "70" "14" "0" "14" "0" "n.14A>G" "r.?" "-" "1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{variantid}}" "0000181084" "0000404720" "0000309666" "0000684539" "0000329561" "0000713909" "0000333271" "0000730695" "0000333272" "0000730696" "0000390647" "0000819992" "0000390648" "0000819993" "0000392419" "0000822710" "0000431784" "0000917071" "0000437139" "0000931915" "0000452481" "0000986464" "0000452482" "0000986465" "0000452483" "0000986466" "0000452484" "0000986467" "0000452485" "0000986468" "0000452486" "0000986469"