### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRMT1) # 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}}" "TRMT1" "tRNA methyltransferase 1 homolog (S. cerevisiae)" "19" "p13.13" "unknown" "NC_000019.9" "UD_132462799704" "" "https://www.LOVD.nl/TRMT1" "" "1" "25980" "55621" "611669" "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/TRMT1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-02-11 11:15:32" "00000" "2025-09-30 07:20:03" ## 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}}" "00023970" "TRMT1" "TRM1 transcript variant 2" "001" "NM_001136035.2" "" "NP_001129507.1" "" "" "" "-129" "2015" "1980" "13227563" "13215714" "00008" "2014-10-23 16:39:51" "" "" ## 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}}" "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" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" "06437" "MRT68" "intellectual developmental disorder, autosomal recessive, type 68" "AR" "618302" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2023-11-14 21:28:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRMT1" "00139" "TRMT1" "06437" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00022445" "" "" "" "1" "" "00799" "" "" "" "" "Iran" "" "0" "" "" "" "" "00292046" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307706" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410941" "00361505" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG1615" "00387813" "" "" "" "4" "" "00006" "{PMID:Hu 2019:29302074}" "family, 4 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Baloch" "M8700072" "00387888" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, second cousin parents" "" "yes" "" "" "0" "" "" "Azeri" "M9000114" "00426161" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "F" "" "Oman" "" "0" "" "" "" "61SS4700" "00426162" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10BS11300" "00441655" "" "" "" "2" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Ireland" "Fam1Pat1/2" "00441741" "" "" "" "1" "" "02190" "" "" "" "" "" "" "0" "" "" "" "" "00441742" "" "" "" "1" "" "02190" "" "" "" "" "" "" "0" "" "" "" "" "00441743" "" "" "" "2" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam2Pat1/2" "00441744" "" "" "" "3" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, affected sister/2 brothers, unaffected heterozygous carrier parents" "F;M" "" "United States" "" "0" "" "" "Mennonite" "Fam3Pat1/2/3" "00441745" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "Creole" "Fam4Pat1" "00441760" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Spain" "" "0" "" "" "white;Hispanic" "Fam5Pat1" "00441762" "" "" "" "2" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "United States" "" "0" "" "" "" "Fam6Pat1/2" "00441764" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "Germany;Ireland;Africa;Scotland;Scandinavia" "Fam7Pat1" "00441765" "" "" "" "2" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "Fam8Pat1/2" "00441766" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United States" "" "0" "" "" "Puerto Rico" "Fam9Pat1" "00441814" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam10Pat1" "00441815" "" "" "" "3" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam11Pat1/2/3/" "00441817" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Germany" "" "0" "" "" "Kurdish" "Fam12Pat1" "00441818" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam13Pat1" "00441819" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Sweden" "" "0" "" "" "" "Fam14Pat1" "00441821" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "Turkey" "Fam16Pat1" "00441822" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Denmark" "" "0" "" "" "Pakistan" "Fam17Pat1" "00447948" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "Hispanic" "Fam18Pat1" "00447949" "" "" "" "1" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "Fam19Pat1" "00447950" "" "" "" "2" "" "02190" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Pakistan" "" "0" "" "" "" "Fam20Pat1/2" "00454722" "" "" "" "2" "" "00095" "{PMID:Legati 2016:26968897}" "2-generation family, patient and affected sibling" "F" "" "" "" "0" "" "" "" "NGSP47" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00022445" "00139" "00292046" "00198" "00307706" "00139" "00361505" "00139" "00387813" "00139" "00387888" "00139" "00426161" "00139" "00426162" "00139" "00441655" "00139" "00441741" "00139" "00441742" "00139" "00441743" "00139" "00441744" "00139" "00441745" "00139" "00441760" "00139" "00441762" "00139" "00441764" "00139" "00441765" "00139" "00441766" "00139" "00441814" "00139" "00441815" "00139" "00441817" "00139" "00441818" "00139" "00441819" "00139" "00441821" "00139" "00441822" "00139" "00447948" "00139" "00447949" "00139" "00447950" "00139" "00454722" "05534" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05534, 06437 ## 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}}" "0000020226" "00139" "00022445" "00799" "Unknown" "" "intellectual disability, minor dysmorphisms" "" "" "" "" "" "" "" "" "" "" "" "0000256910" "00139" "00361505" "00006" "Familial, autosomal recessive" "8y" "not syndromic; intellectual disability, seizures and strabismus" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281381" "00139" "00387813" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281456" "00139" "00387888" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, no microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000317311" "00139" "00426161" "00006" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "MRT68" "intellectual disability" "" "0000317312" "00139" "00426162" "00006" "Familial, autosomal recessive" "4y" "" "" "" "" "" "" "" "" "" "MRT68" "intellectual disability" "" "0000343350" "05534" "00454722" "00095" "Unknown" "" "respiratory distress, hypotonia" "<0y" "" "" "" "" "" "" "" "" "mtDNA depletion" "" "0000350825" "00139" "00441655" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350826" "00139" "00441743" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350827" "00139" "00441744" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350828" "00139" "00441745" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350829" "00139" "00441760" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350830" "00139" "00441762" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350831" "00139" "00441764" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350832" "00139" "00441765" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350833" "00139" "00441766" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350834" "00139" "00441814" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350835" "00139" "00441815" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350836" "00139" "00447948" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350837" "00139" "00447949" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350838" "00139" "00447950" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350839" "00139" "00441817" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350840" "00139" "00441818" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350841" "00139" "00441819" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350842" "00139" "00441821" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000350843" "00139" "00441822" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000022432" "00022445" "1" "00799" "00799" "2014-10-12 11:14:41" "" "" "SEQ-NG" "DNA" "" "" "0000293214" "00292046" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308846" "00307706" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000362733" "00361505" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000389044" "00387813" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389119" "00387888" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427481" "00426161" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000427482" "00426162" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000443141" "00441655" "1" "02190" "02190" "2023-11-08 16:45:23" "" "" "SEQ-NG" "DNA" "" "" "0000443227" "00441741" "1" "02190" "02190" "2023-11-10 17:12:46" "" "" "SEQ-NG" "DNA" "" "" "0000443228" "00441742" "1" "02190" "02190" "2023-11-10 17:31:02" "" "" "SEQ-NG" "DNA" "" "" "0000443229" "00441743" "1" "02190" "02190" "2023-11-10 17:40:34" "" "" "SEQ-NG" "DNA" "" "" "0000443230" "00441744" "1" "02190" "02190" "2023-11-10 17:48:07" "" "" "SEQ-NG" "DNA" "" "" "0000443231" "00441745" "1" "02190" "02190" "2023-11-10 17:56:28" "" "" "SEQ-NG" "DNA" "" "" "0000443246" "00441760" "1" "02190" "02190" "2023-11-11 16:27:24" "" "" "SEQ-NG" "DNA" "" "" "0000443248" "00441762" "1" "02190" "02190" "2023-11-11 16:36:39" "" "" "SEQ-NG" "DNA" "" "" "0000443250" "00441764" "1" "02190" "02190" "2023-11-11 16:45:21" "" "" "SEQ-NG" "DNA" "" "" "0000443251" "00441765" "1" "02190" "02190" "2023-11-11 16:48:53" "" "" "SEQ-NG" "DNA" "" "" "0000443252" "00441766" "1" "02190" "02190" "2023-11-11 17:09:19" "" "" "SEQ-NG" "DNA" "" "" "0000443300" "00441814" "1" "02190" "02190" "2023-11-13 13:02:45" "" "" "SEQ-NG" "DNA" "" "" "0000443301" "00441815" "1" "02190" "02190" "2023-11-13 13:07:25" "" "" "SEQ-NG" "DNA" "" "" "0000443303" "00441817" "1" "02190" "02190" "2023-11-13 13:10:23" "" "" "SEQ-NG" "DNA" "" "" "0000443304" "00441818" "1" "02190" "02190" "2023-11-13 13:13:05" "" "" "SEQ-NG" "DNA" "" "" "0000443305" "00441819" "1" "02190" "02190" "2023-11-13 13:15:39" "" "" "SEQ-NG" "DNA" "" "" "0000443306" "00441821" "1" "02190" "02190" "2023-11-13 13:19:31" "" "" "SEQ-NG" "DNA" "" "" "0000443307" "00441822" "1" "02190" "02190" "2023-11-13 13:21:23" "" "" "SEQ-NG" "DNA" "" "" "0000449519" "00447948" "1" "02190" "02190" "2024-02-03 19:07:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000449520" "00447949" "1" "02190" "02190" "2024-02-03 19:15:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000449521" "00447950" "1" "02190" "02190" "2024-02-03 19:23:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000456335" "00454722" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000022432" "TRMT1" "0000308846" "TRMT1" "0000362733" "TRMT1" "0000389044" "TRMT1" "0000389119" "TRMT1" "0000443141" "TRMT1" "0000443227" "TRMT1" "0000443228" "TRMT1" "0000443229" "TRMT1" "0000443230" "TRMT1" "0000443231" "TRMT1" "0000443246" "TRMT1" "0000443248" "TRMT1" "0000443250" "TRMT1" "0000443251" "TRMT1" "0000443252" "TRMT1" "0000443300" "TRMT1" "0000443301" "TRMT1" "0000443303" "TRMT1" "0000443304" "TRMT1" "0000443305" "TRMT1" "0000443306" "TRMT1" "0000443307" "TRMT1" "0000449519" "TRMT1" "0000449520" "TRMT1" "0000449521" "TRMT1" ## 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 = 55 "{{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}}" "0000044867" "3" "90" "19" "13220260" "13220261" "del" "0" "00799" "TRMT1_000001" "g.13220260_13220261del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.13109446_13109447del" "" "pathogenic" "" "0000566158" "0" "50" "19" "13220653" "13220653" "subst" "2.4373E-5" "01943" "TRMT1_000005" "g.13220653C>T" "" "" "" "TRMT1(NM_017722.4):c.1107-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13109839C>T" "" "VUS" "" "0000566161" "0" "50" "19" "13226504" "13226505" "del" "0" "01943" "TRMT1_000004" "g.13226504_13226505del" "" "" "" "TRMT1(NM_001136035.4):c.389_390del (p.(Lys130Argfs*3)), TRMT1(NM_017722.4):c.389_390delAA (p.K130Rfs*3), TRMT1(NM_017722.5):c.389_390delAA (p.K130...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13115690_13115691del" "" "VUS" "" "0000566162" "0" "90" "19" "13226504" "13226505" "del" "0" "02325" "TRMT1_000004" "g.13226504_13226505del" "" "" "" "TRMT1(NM_001136035.4):c.389_390del (p.(Lys130Argfs*3)), TRMT1(NM_017722.4):c.389_390delAA (p.K130Rfs*3), TRMT1(NM_017722.5):c.389_390delAA (p.K130...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13115690_13115691del" "" "pathogenic" "" "0000617370" "0" "30" "19" "13211521" "13211521" "subst" "0.000451054" "01804" "NFIX_000080" "g.13211521C>T" "" "" "" "LYL1(NM_005583.4):c.377G>A (p.(Ser126Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13100707C>T" "" "likely benign" "" "0000649903" "1" "70" "19" "13221024" "13221024" "subst" "1.62611E-5" "03575" "TRMT1_000006" "g.13221024G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs542184779}" "Germline" "" "rs542184779" "0" "" "" "g.13110210G>A" "" "likely pathogenic" "" "0000683280" "3" "70" "19" "13226256" "13226257" "ins" "0" "00006" "TRMT1_000007" "g.13226256_13226257insT" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.13115442_13115443insT" "" "likely pathogenic (recessive)" "" "0000727149" "0" "50" "19" "13220820" "13220820" "subst" "0.000118415" "02325" "TRMT1_000008" "g.13220820G>T" "" "" "" "TRMT1(NM_001136035.4):c.1020-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727150" "0" "50" "19" "13226207" "13226207" "subst" "4.06293E-6" "02329" "NACC1_000003" "g.13226207C>T" "" "" "" "TRMT1(NM_017722.5):c.527G>A (p.G176E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763107" "3" "70" "19" "13221024" "13221024" "subst" "1.62611E-5" "00006" "TRMT1_000006" "g.13221024G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.13110210G>A" "" "likely pathogenic" "ACMG" "0000817837" "3" "90" "19" "13223781" "13223812" "del" "0" "00006" "TRMT1_000009" "g.13223781_13223812del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.13112967_13112998del" "" "pathogenic (recessive)" "ACMG" "0000817912" "3" "90" "19" "13220260" "13220261" "del" "0" "00006" "TRMT1_000001" "g.13220260_13220261del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.13109446_13109447del" "" "pathogenic (recessive)" "ACMG" "0000855451" "0" "70" "19" "13220591" "13220591" "subst" "4.06273E-6" "01943" "TRMT1_000011" "g.13220591G>A" "" "" "" "TRMT1(NM_017722.4):c.1168C>T (p.R390*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865873" "0" "30" "19" "13220284" "13220284" "subst" "0.00191968" "01804" "TRMT1_000010" "g.13220284C>T" "" "" "" "TRMT1(NM_001136035.2):c.1312-4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894796" "0" "50" "19" "13220195" "13220195" "subst" "2.03363E-5" "02329" "TRMT1_000012" "g.13220195C>T" "" "" "" "TRMT1(NM_017722.5):c.1397G>A (p.R466Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000904841" "3" "70" "19" "13223781" "13223812" "del" "0" "00006" "TRMT1_000009" "g.13223781_13223812del" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001142554.3:c.657_688del (Gln219HisfsTer22)" "" "Germline" "" "rs746572548" "0" "" "" "g.13112967_13112998del" "VCV000617602.1" "likely pathogenic (recessive)" "" "0000904842" "3" "70" "19" "13215902" "13215902" "subst" "0" "00006" "TRMT1_000013" "g.13215902G>A" "" "{PMID:Al-Kasbi 2022:36344539}" "" "NM_001136035.4:c.1834-7C>T" "" "Germline" "" "" "0" "" "" "g.13105088G>A" "" "VUS" "" "0000944528" "3" "70" "19" "13226281" "13226281" "subst" "4.09846E-6" "02190" "TRMT1_000014" "g.13226281C>G" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP1, PVS1, PM2" "Germline" "" "" "0" "" "" "g.13115467C>G" "" "likely pathogenic" "ACMG" "0000944620" "21" "70" "19" "13220653" "13220653" "subst" "2.4373E-5" "02190" "TRMT1_000005" "g.13220653C>T" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.13109839C>T" "" "likely pathogenic" "ACMG" "0000944621" "11" "90" "19" "13226503" "13226504" "del" "2.03036E-5" "02190" "TRMT1_000004" "g.13226503_13226504del" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PP5, PM2, PM3" "Germline" "" "" "0" "" "" "g.13115690_13115691del" "" "pathogenic" "ACMG" "0000944622" "3" "70" "19" "13220481" "13220481" "subst" "4.06957E-6" "02190" "TRMT1_000016" "g.13220481C>T" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP1, PVS1, PM2" "Germline" "" "" "0" "" "" "g.13109667C>T" "" "likely pathogenic" "ACMG" "0000944624" "3" "50" "19" "13220196" "13220198" "del" "4.06726E-6" "02190" "TRMT1_000015" "g.13220196_13220198del" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PM2, PM4" "Germline" "" "" "0" "" "" "g.13109382_13109384del" "" "VUS" "ACMG" "0000944625" "21" "70" "19" "13220996" "13220996" "subst" "0" "02190" "TRMT1_000019" "g.13220996T>C" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PM2, BP1" "Germline" "" "" "0" "" "" "g.13110182T>C" "" "VUS" "ACMG" "0000944626" "11" "70" "19" "13226867" "13226867" "subst" "0" "02190" "TRMT1_000024" "g.13226867C>A" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.13116053C>A" "" "likely pathogenic" "ACMG" "0000944640" "11" "70" "19" "13220653" "13220653" "subst" "2.4373E-5" "02190" "TRMT1_000005" "g.13220653C>T" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.13109839C>T" "" "likely pathogenic" "ACMG" "0000944641" "21" "70" "19" "13226806" "13226806" "subst" "4.0621E-5" "02190" "TRMT1_000023" "g.13226806C>G" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PP5, PM2, PM3" "Germline" "" "" "0" "" "" "g.13115992C>G" "" "likely pathogenic" "ACMG" "0000944642" "11" "90" "19" "13221107" "13221107" "dup" "0" "02190" "TRMT1_000020" "g.13221107dup" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PP5, PM2, PM3" "Germline" "" "" "0" "" "" "g.13110293dup" "" "pathogenic" "ACMG" "0000944643" "21" "70" "19" "13220793" "13220793" "subst" "2.03384E-5" "02190" "TRMT1_000018" "g.13220793A>G" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PP5, PM2, PM3, BP1" "Germline" "" "" "0" "" "" "g.13109979A>G" "" "likely pathogenic" "ACMG" "0000944644" "21" "30" "19" "13227005" "13227005" "subst" "0.00103573" "02190" "TRMT1_000017" "g.13227005T>C" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG BP4, BP1, BS1, PM2" "Germline" "" "" "0" "" "" "g.13116191T>C" "" "likely benign" "ACMG" "0000944645" "21" "30" "19" "13227005" "13227005" "subst" "0.00103573" "02190" "TRMT1_000025" "g.13227005T>C" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "" "Germline" "" "" "0" "" "" "g.13116191T>C" "" "likely benign" "ACMG" "0000944646" "11" "30" "19" "13226541" "13226541" "subst" "0" "02190" "TRMT1_000022" "g.13226541C>A" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "" "Germline" "" "" "0" "" "" "g.13115727C>A" "" "likely benign" "ACMG" "0000944647" "3" "50" "19" "13226228" "13226228" "subst" "0" "02190" "TRMT1_000021" "g.13226228C>G" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PM2, BP1" "Germline" "" "" "0" "" "" "g.13115414C>G" "" "VUS" "ACMG" "0000944708" "11" "70" "19" "13226806" "13226806" "subst" "4.0621E-5" "02190" "TRMT1_000023" "g.13226806C>G" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PP5, PM2, PM3" "Germline" "" "" "0" "" "" "g.13115992C>G" "" "likely pathogenic" "ACMG" "0000944709" "21" "50" "19" "13221024" "13221024" "subst" "1.62611E-5" "02190" "TRMT1_000006" "g.13221024G>A" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PP5, PM2, BP1" "Germline" "" "" "0" "" "" "g.13110210G>A" "" "VUS" "ACMG" "0000944710" "3" "70" "19" "13226229" "13226229" "subst" "0" "02190" "TRMT1_000028" "g.13226229G>A" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.13115415G>A" "" "likely pathogenic" "ACMG" "0000944712" "3" "90" "19" "13220259" "13220260" "del" "1.21927E-5" "02190" "TRMT1_000001" "g.13220259_13220260del" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PP1, PP5, PM2, PM3" "Germline" "" "" "0" "" "" "g.13109446_13109447del" "" "pathogenic" "ACMG" "0000944713" "3" "90" "19" "13226581" "13226581" "del" "0" "02190" "TRMT1_000029" "g.13226581del" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PP5, PM2" "Germline" "" "" "0" "" "" "g.13115767del" "" "pathogenic" "ACMG" "0000944714" "3" "50" "19" "13223776" "13223776" "subst" "7.3312E-5" "02190" "TRMT1_000027" "g.13223776C>T" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PM2, BP1" "Germline" "" "" "0" "" "" "g.13112962C>T" "" "VUS" "ACMG" "0000944715" "3" "70" "19" "13226583" "13226583" "subst" "0" "02190" "TRMT1_000030" "g.13226583C>T" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PP5, PM2, PM3" "Germline" "" "" "0" "" "" "g.13115769C>T" "" "pathogenic" "ACMG" "0000944716" "3" "50" "19" "13223713" "13223715" "del" "0" "02190" "TRMT1_000026" "g.13223713_13223715del" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PM4, PM2" "Germline" "" "" "0" "" "" "g.13112900_13112902del" "" "VUS" "ACMG" "0000959740" "3" "70" "19" "13226806" "13226806" "subst" "4.0621E-5" "02190" "TRMT1_000023" "g.13226806C>G" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PP5, PM2, PM3" "Germline" "" "" "0" "" "" "g.13115992C>G" "" "likely pathogenic" "ACMG" "0000959741" "11" "50" "19" "13218671" "13218671" "subst" "0" "02190" "TRMT1_000031" "g.13218671G>A" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PM2, BP1" "Germline" "" "" "0" "" "" "g.13107857C>T" "" "VUS" "ACMG" "0000959742" "21" "50" "19" "13221024" "13221024" "subst" "1.62611E-5" "02190" "TRMT1_000006" "g.13221024G>A" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PP3, PP5, PM2, BP1" "Germline" "" "" "" "" "" "g.13110210G>A" "" "VUS" "ACMG" "0000959743" "3" "90" "19" "13223781" "13223812" "del" "0" "02190" "TRMT1_000009" "g.13223781_13223812del" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG PVS1, PP5, PM2" "Germline" "" "" "0" "" "" "g.13112967_13112998del" "" "pathogenic" "ACMG" "0000983220" "0" "50" "19" "13216393" "13216394" "del" "8.15322E-6" "01804" "LYL1_000004" "g.13216393_13216394del" "" "" "" "TRMT1(NM_001136035.2):c.1610_1611delAA (p.(Glu537fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983221" "0" "50" "19" "13216396" "13216408" "del" "8.159E-6" "01804" "LYL1_000005" "g.13216396_13216408del" "" "" "" "TRMT1(NM_001136035.2):c.1596_1608delCTTCACCATCCGG (p.(Asn532fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983222" "0" "50" "19" "13220992" "13220992" "subst" "0.000955626" "01804" "TRMT1_000032" "g.13220992G>A" "" "" "" "TRMT1(NM_001136035.4):c.999C>T (p.(Ala333=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983223" "0" "70" "19" "13226504" "13226505" "del" "0" "01804" "TRMT1_000004" "g.13226504_13226505del" "" "" "" "TRMT1(NM_001136035.4):c.389_390del (p.(Lys130Argfs*3)), TRMT1(NM_017722.4):c.389_390delAA (p.K130Rfs*3), TRMT1(NM_017722.5):c.389_390delAA (p.K130...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001008580" "1" "50" "19" "13227005" "13227005" "subst" "0.00103573" "00095" "TRMT1_000025" "g.13227005T>C" "" "{PMID:Legati 2016:26968897}" "" "N70S" "" "Germline" "" "" "0" "" "" "g.13116191T>C" "" "VUS" "" "0001008592" "1" "50" "19" "13226222" "13226222" "subst" "0" "00095" "TRMT1_000033" "g.13226222G>A" "" "{PMID:Legati 2016:26968897}" "" "A171V" "" "Germline" "" "" "0" "" "" "g.13115408G>A" "" "VUS" "" "0001030983" "11" "30" "19" "13226541" "13226541" "subst" "0" "00006" "TRMT1_000022" "g.13226541C>A" "" "{PMID:Efthymiou 2025:40245862}, {DOI:Efthymiou 2025:10.1016/j.ajhg.2025.03.015}" "" "" "ACMG BP4, BP1, PM2" "Germline" "" "" "0" "" "" "g.13115727C>A" "" "likely benign" "ACMG" "0001042636" "0" "70" "19" "13216080" "13216080" "subst" "0" "02329" "LYL1_000006" "g.13216080C>G" "" "" "" "TRMT1(NM_001136035.4):c.1833+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042637" "0" "50" "19" "13218611" "13218611" "subst" "0" "01804" "LYL1_000007" "g.13218611T>C" "" "" "" "TRMT1(NM_001136035.4):c.1460A>G (p.(Lys487Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042638" "0" "50" "19" "13226238" "13226238" "subst" "8.13411E-6" "01804" "NACC1_000020" "g.13226238G>A" "" "" "" "TRMT1(NM_001136035.4):c.496C>T (p.(Arg166Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048424" "0" "50" "19" "13215902" "13215902" "subst" "0" "03779" "TRMT1_000013" "g.13215902G>A" "" "" "" "" "" "Unknown" "" "rs2513065519" "0" "" "" "" "" "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 TRMT1 ## Count = 55 "{{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}}" "0000044867" "00023970" "95" "1332" "0" "1333" "0" "c.1332_1333del" "r.(?)" "p.(Tyr445Leufs*28)" "12" "0000566158" "00023970" "50" "1107" "-1" "1107" "-1" "c.1107-1G>A" "r.spl?" "p.?" "" "0000566161" "00023970" "50" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Lys130ArgfsTer3)" "" "0000566162" "00023970" "90" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Lys130ArgfsTer3)" "" "0000617370" "00023970" "30" "6208" "0" "6208" "0" "c.*4228G>A" "r.(=)" "p.(=)" "" "0000649903" "00023970" "70" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323Cys)" "" "0000683280" "00023970" "70" "477" "0" "478" "0" "c.477_478insA" "r.(?)" "p.(Leu160Thrfs*42)" "" "0000727149" "00023970" "50" "1020" "-5" "1020" "-5" "c.1020-5C>A" "r.spl?" "p.?" "" "0000727150" "00023970" "50" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Gly176Glu)" "" "0000763107" "00023970" "70" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323Cys)" "" "0000817837" "00023970" "90" "657" "0" "688" "0" "c.657_688del" "r.(?)" "p.(Gln219Hisfs*22)" "" "0000817912" "00023970" "90" "1332" "0" "1333" "0" "c.1332_1333del" "r.(?)" "p.(Tyr445Leufs*28)" "" "0000855451" "00023970" "70" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Arg390*)" "" "0000865873" "00023970" "30" "1312" "-4" "1312" "-4" "c.1312-4G>A" "r.spl?" "p.?" "" "0000894796" "00023970" "50" "1397" "0" "1397" "0" "c.1397G>A" "r.(?)" "p.(Arg466Gln)" "" "0000904841" "00023970" "70" "655" "0" "686" "0" "c.655_686del" "r.(?)" "p.(Gln219Hisfs*22)" "" "0000904842" "00023970" "70" "1834" "-7" "1834" "-7" "c.1834-7C>T" "r.(=)" "p.(=)" "" "0000944528" "00023970" "70" "454" "-1" "454" "-1" "c.454-1G>C" "r.spl" "p.(Cys86Glnfs*24)" "" "0000944620" "00023970" "70" "1107" "-1" "1107" "-1" "c.1107-1G>A" "r.spl" "p.(Ala370Profs*11)" "" "0000944621" "00023970" "90" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Lys130Argfs*3)" "" "0000944622" "00023970" "70" "1194" "0" "1194" "0" "c.1194G>A" "r.(?)" "p.(Trp398*)" "" "0000944624" "00023970" "50" "1394" "0" "1396" "0" "c.1394_1396del" "r.(?)" "p.(Leu465_Arg466delinsTrp)" "" "0000944625" "00023970" "70" "995" "0" "995" "0" "c.995A>G" "r.(?)" "p.(Gln332Arg)" "" "0000944626" "00023970" "70" "255" "-1" "255" "-1" "c.255-1G>T" "r.spl" "p.(Cys86Glnfs*24)" "" "0000944640" "00023970" "70" "1107" "-1" "1107" "-1" "c.1107-1G>A" "r.spl" "p.(Ala370Profs*11)" "" "0000944641" "00023970" "70" "310" "5" "310" "5" "c.310+5G>C" "r.spl" "p.(Cys86Glnfs*24)" "" "0000944642" "00023970" "90" "884" "0" "884" "0" "c.884dup" "r.(?)" "p.(Leu296Profs*24)" "" "0000944643" "00023970" "70" "1042" "0" "1042" "0" "c.1042T>C" "r.(?)" "p.(Cys348Arg)" "" "0000944644" "00023970" "30" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Asn70Ser)" "" "0000944645" "00023970" "30" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Asn70Ser)" "" "0000944646" "00023970" "30" "352" "0" "352" "0" "c.352G>T" "r.(?)" "p.(Asp118Tyr)" "" "0000944647" "00023970" "50" "506" "0" "506" "0" "c.506G>C" "r.(?)" "p.(Arg169Pro)" "" "0000944708" "00023970" "70" "310" "5" "310" "5" "c.310+5G>C" "r.spl" "p.(Cys86Glnfs*24)" "" "0000944709" "00023970" "50" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323Cys)" "" "0000944710" "00023970" "70" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Arg169*)" "" "0000944712" "00023970" "90" "1332" "0" "1333" "0" "c.1332_1333del" "r.(?)" "p.(Tyr445Leufs*28)" "" "0000944713" "00023970" "90" "312" "0" "312" "0" "c.312del" "r.(?)" "p.(Lys105Argfs*25)" "" "0000944714" "00023970" "50" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Asp231Asn)" "" "0000944715" "00023970" "70" "311" "-1" "311" "-1" "c.311-1G>A" "r.spl" "p.(Cys86Glnfs*24)" "" "0000944716" "00023970" "50" "752" "0" "754" "0" "c.752_754del" "r.(?)" "p.(Glu251del)" "" "0000959740" "00023970" "70" "310" "5" "310" "5" "c.310+5G>C" "r.spl" "p.(Cys86Glnfs*24)" "" "0000959741" "00023970" "50" "1400" "0" "1400" "0" "c.1400C>T" "r.(?)" "p.(Ser467Leu)" "" "0000959742" "00023970" "50" "967" "0" "967" "0" "c.967C>T" "r.(?)" "p.(Arg323Cys)" "" "0000959743" "00023970" "90" "657" "0" "688" "0" "c.657_688del" "r.(?)" "p.(Gln219Hisfs*22)" "" "0000983220" "00023970" "50" "1610" "0" "1611" "0" "c.1610_1611del" "r.(?)" "p.(Glu537Glyfs*17)" "" "0000983221" "00023970" "50" "1596" "0" "1608" "0" "c.1596_1608del" "r.(?)" "p.(Asn532Lysfs*123)" "" "0000983222" "00023970" "50" "999" "0" "999" "0" "c.999C>T" "r.(?)" "p.(=)" "" "0000983223" "00023970" "70" "389" "0" "390" "0" "c.389_390del" "r.(?)" "p.(Lys130ArgfsTer3)" "" "0001008580" "00023970" "50" "209" "0" "209" "0" "c.209A>G" "r.(?)" "p.(Asn70Ser)" "" "0001008592" "00023970" "50" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Ala171Val)" "" "0001030983" "00023970" "30" "352" "0" "352" "0" "c.352G>T" "r.(?)" "p.(Asp118Tyr)" "" "0001042636" "00023970" "70" "1833" "1" "1833" "1" "c.1833+1G>C" "r.spl?" "p.?" "" "0001042637" "00023970" "50" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.(Lys487Arg)" "" "0001042638" "00023970" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Cys)" "" "0001048424" "00023970" "50" "1834" "-7" "1834" "-7" "c.1834-7C>T" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000022432" "0000044867" "0000293214" "0000649903" "0000308846" "0000683280" "0000362733" "0000763107" "0000389044" "0000817837" "0000389119" "0000817912" "0000427481" "0000904841" "0000427482" "0000904842" "0000443141" "0000944528" "0000443227" "0000944620" "0000443228" "0000944621" "0000443229" "0000944622" "0000443230" "0000944624" "0000443231" "0000944625" "0000443231" "0000944626" "0000443246" "0000944640" "0000443246" "0000944641" "0000443248" "0000944642" "0000443248" "0000944643" "0000443250" "0000944644" "0000443250" "0001030983" "0000443251" "0000944645" "0000443251" "0000944646" "0000443252" "0000944647" "0000443300" "0000944708" "0000443300" "0000944709" "0000443301" "0000944710" "0000443303" "0000944712" "0000443304" "0000944713" "0000443305" "0000944714" "0000443306" "0000944715" "0000443307" "0000944716" "0000449519" "0000959740" "0000449520" "0000959741" "0000449520" "0000959742" "0000449521" "0000959743" "0000456335" "0001008580" "0000456335" "0001008592"