### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRMU) # 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}}" "TRMU" "tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase" "22" "q13" "unknown" "NG_012173.1" "UD_132118773314" "" "https://www.LOVD.nl/TRMU" "" "1" "25481" "55687" "610230" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/TRMU_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-07-24 21:37:32" "00006" "2025-11-13 13:04:16" ## 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}}" "00021890" "TRMU" "transcript variant 1" "001" "NM_018006.4" "" "NP_060476.2" "" "" "" "-364" "1600" "1266" "46731298" "46753237" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02279" "-" "deafness, aminoglycoside-induced" "Mi" "580000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03239" "LFIT" "failure, liver, transient, infantile (LFIT)" "AR" "613070" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03363" "MLASA2" "myopathy, lactic acidosis, and sideroblastic anemia, type 2 (MLASA2)" "AR" "613561" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-19 12:45:02" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRMU" "02279" "TRMU" "03239" ## Individuals ## Do not remove or alter this header ## ## Count = 21 "{{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}}" "00037260" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037261" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037262" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037263" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037264" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037265" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037266" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037267" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037268" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037269" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00204192" "" "" "" "1" "" "01786" "" "" "" "" "Lebanon" "" "0" "" "" "Lebanese" "" "00293149" "" "" "" "64" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293150" "" "" "" "217" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293151" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296591" "" "" "" "1" "" "00006" "{PMID:Taylor 2014:25058219}" "" "M" "yes" "United Kingdom (Great Britain)" "1m" "0" "" "" "Pakistan" "Pat24" "00304910" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304911" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00455803" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat43" "00469465" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469466" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469467" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00037262" "00198" "00037263" "00198" "00037264" "00198" "00037265" "00198" "00037267" "00198" "00204192" "03363" "00293149" "00198" "00293150" "00198" "00293151" "00198" "00296591" "00198" "00304910" "00198" "00304911" "00198" "00455803" "00198" "00469465" "00198" "00469466" "00198" "00469467" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02279, 03239, 03363 ## Count = 11 "{{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}}" "0000152698" "03363" "00204192" "01786" "Familial, autosomal recessive" "" "" "" "31y" "" "" "" "" "" "" "" "" "" "0000156862" "00198" "00037262" "01164" "Unknown" "" "suspected mitochondrial disease (two sons died); other patient: vision defect, ataxia, migraine; suspected mitochondrial disease, e.g. LHON" "" "" "" "" "" "" "" "" "" "mitochondrial disease?" "" "0000156863" "00198" "00037263" "01164" "Unknown" "" "liver cirrhosis, psychomotor retardation, hypotonia, splenomegaly" "" "" "" "" "" "" "" "" "" "hepatic cirrhosis" "" "0000156864" "00198" "00037264" "01164" "Unknown" "" "growth retardation, hypoglycaemia, seizures" "" "" "" "" "" "" "" "" "" "growth retardation" "" "0000156865" "00198" "00037265" "01164" "Unknown" "" "liver cirrhosis, psychomotor retardation, hypotonia, splenomegaly" "" "" "" "" "" "" "" "" "" "hepatic cirrhosis" "" "0000156866" "00198" "00037267" "01164" "Unknown" "" "liver cirrhosis, psychomotor retardation, hypotonia, splenomegaly" "" "" "" "" "" "" "" "" "" "hepatic cirrhosis" "" "0000223997" "00198" "00296591" "00006" "Familial, autosomal recessive" "1m" "deceased; muscle affected; central nervous system affected; heart affected; liver not affected; lactic acidosis" "1d" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000344336" "00198" "00455803" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "LFIT" "neurogenetic diseases" "" "0000354618" "00198" "00469465" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the mitochondrion" "" "0000354619" "00198" "00469466" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the mitochondrion" "" "0000354620" "00198" "00469467" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the mitochondrion" "" ## Screenings ## Do not remove or alter this header ## ## Count = 21 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037330" "00037260" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037331" "00037261" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037332" "00037262" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037333" "00037263" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037334" "00037264" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037335" "00037265" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037336" "00037266" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037337" "00037267" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037338" "00037268" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037339" "00037269" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000205221" "00204192" "1" "01786" "01786" "2012-03-13 16:34:27" "" "" "SEQ" "DNA;RNA" "" "" "0000294317" "00293149" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294318" "00293150" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294319" "00293151" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297701" "00296591" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306039" "00304910" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306040" "00304911" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000457419" "00455803" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000471133" "00469465" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471134" "00469466" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471135" "00469467" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000037330" "TRMU" "0000037331" "TRMU" "0000037332" "TRMU" "0000037333" "TRMU" "0000037334" "TRMU" "0000037335" "TRMU" "0000037336" "TRMU" "0000037337" "TRMU" "0000037338" "TRMU" "0000037339" "TRMU" "0000205221" "YARS2" ## 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 = 29 "{{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}}" "0000064455" "1" "50" "22" "46739111" "46739111" "del" "0" "01164" "TRMU_000001" "g.46739111del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46343214del" "" "VUS" "" "0000064456" "1" "50" "22" "46747944" "46747944" "subst" "0" "01164" "TRMU_000003" "g.46747944G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46352047G>A" "" "VUS" "" "0000064457" "1" "50" "22" "46731689" "46731689" "subst" "0.0897716" "01164" "TRMU_000008" "g.46731689G>T" "" "" "" "" "PolyPhen-2: possibly damaging (PSIC: 1,7)" "Germline" "" "" "0" "" "" "g.46335792G>T" "" "VUS" "" "0000064458" "1" "50" "22" "46731763" "46731763" "dup" "0" "01164" "TRMU_000009" "g.46731763dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46335866dup" "" "VUS" "" "0000064459" "1" "50" "22" "46749732" "46749732" "subst" "0" "01164" "TRMU_000005" "g.46749732G>A" "" "" "" "" "p.Glu281Lys: PolyPhen-2: benign (PSIC: 0,341)" "Germline" "" "" "0" "" "" "g.46353835G>A" "" "VUS" "" "0000064460" "1" "10" "22" "46753255" "46753255" "subst" "0" "01164" "TRMU_000007" "g.46753255T>C" "frequency 0-79%" "" "" "" "" "Germline" "" "rs9626855" "0" "" "" "g.46357358T>C" "" "benign" "" "0000064461" "1" "10" "22" "46752911" "46752911" "subst" "0.0204659" "01164" "TRMU_000006" "g.46752911G>C" "" "" "" "" "" "Germline" "" "rs55905826" "0" "" "" "g.46357014G>C" "" "benign" "" "0000064462" "1" "10" "22" "46742486" "46742486" "subst" "0.0629044" "01164" "TRMU_000002" "g.46742486T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46346589T>G" "" "benign" "" "0000064463" "1" "50" "22" "46748002" "46748002" "subst" "0.00422507" "01164" "TRMU_000004" "g.46748002C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46352105C>T" "" "VUS" "" "0000064464" "1" "50" "22" "46733871" "46733871" "subst" "0" "01164" "TRMU_000010" "g.46733871T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.46337974T>C" "" "VUS" "" "0000317115" "0" "50" "22" "46748164" "46748164" "subst" "0" "01943" "TRMU_000011" "g.46748164C>A" "" "" "" "TRMU(NM_018006.4):c.709C>A (p.L237M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46352267C>A" "" "VUS" "" "0000417816" "0" "55" "22" "46751434" "46751434" "subst" "4.07166E-6" "01786" "TRMU_000012" "g.46751434C>T" "" "" "" "n.1331C>T" "0/100 controls" "Unknown" "" "" "0" "" "" "g.46355537C>T" "" "VUS" "" "0000651006" "1" "30" "22" "46731534" "46731534" "subst" "0" "03575" "TRMU_000013" "g.46731534A>G" "64/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "64 heterozygous; {DB:CLININrs141601555}" "Germline" "" "rs141601555" "0" "" "" "g.46335637A>G" "" "likely benign" "" "0000651007" "1" "10" "22" "46731689" "46731689" "subst" "0.0897716" "03575" "TRMU_000008" "g.46731689G>T" "217/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "217 heterozygous; {DB:CLININrs11090865}" "Germline" "" "rs11090865" "0" "" "" "g.46335792G>T" "" "benign" "" "0000651008" "1" "70" "22" "46749726" "46749726" "subst" "0.000154317" "03575" "TRMU_000014" "g.46749726G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs387907022}" "Germline" "" "rs387907022" "0" "" "" "g.46353829G>A" "" "likely pathogenic" "" "0000660310" "3" "90" "22" "46739197" "46739197" "subst" "4.06085E-5" "00006" "TRMU_000015" "g.46739197A>G" "" "{PMID:Taylor 2014:25058219}" "" "" "" "Germline" "" "" "0" "" "" "g.46343300A>G" "" "pathogenic (recessive)" "" "0000669727" "3" "30" "22" "46731534" "46731534" "subst" "0" "03575" "TRMU_000013" "g.46731534A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs141601555}" "Germline" "" "rs141601555" "0" "" "" "g.46335637A>G" "" "likely benign" "" "0000669728" "3" "10" "22" "46731689" "46731689" "subst" "0.0897716" "03575" "TRMU_000008" "g.46731689G>T" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs11090865}" "Germline" "" "rs11090865" "0" "" "" "g.46335792G>T" "" "benign" "" "0000681918" "0" "50" "22" "46749726" "46749726" "subst" "0.000154317" "01943" "TRMU_000014" "g.46749726G>A" "" "" "" "TRMU(NM_018006.4):c.835G>A (p.V279M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728202" "0" "50" "22" "46733760" "46733760" "subst" "0" "01943" "GTSE1_000001" "g.46733760A>T" "" "" "" "TRMU(NM_018006.4):c.167A>T (p.D56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728203" "0" "30" "22" "46751367" "46751367" "subst" "0.000379961" "01943" "TRMU_000016" "g.46751367G>T" "" "" "" "TRMU(NM_018006.4):c.900G>T (p.L300=), TRMU(NM_018006.5):c.900G>T (p.(Leu300=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856193" "0" "30" "22" "46742405" "46742405" "subst" "0.00356629" "02326" "TRMU_000017" "g.46742405G>A" "" "" "" "TRMU(NM_018006.5):c.442G>A (p.E148K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895791" "0" "10" "22" "46742350" "46742350" "subst" "0.00375213" "02326" "TRMU_000018" "g.46742350A>G" "" "" "" "TRMU(NM_018006.5):c.387A>G (p.A129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001011922" "3" "90" "22" "46749726" "46749726" "subst" "0.000154317" "00006" "TRMU_000014" "g.46749726G>A" "" "{PMID:Salinas 2020:33084218}" "" "NM_001282785:c.835G>A" "" "Germline" "" "" "0" "" "" "g.46353829G>A" "RCV000023804.3" "pathogenic (recessive)" "" "0001043933" "0" "30" "22" "46751367" "46751367" "subst" "0.000379961" "01804" "TRMU_000016" "g.46751367G>T" "" "" "" "TRMU(NM_018006.4):c.900G>T (p.L300=), TRMU(NM_018006.5):c.900G>T (p.(Leu300=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001057215" "0" "10" "22" "46746188" "46746188" "subst" "0.00352141" "01804" "TRMU_000019" "g.46746188C>T" "" "" "" "TRMU(NM_018006.5):c.479C>T (p.(Ala160Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001059255" "0" "90" "22" "46749726" "46749726" "subst" "0.000154317" "00006" "TRMU_000014" "g.46749726G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.46353829G>A" "" "pathogenic" "" "0001059256" "0" "90" "22" "46751421" "46751421" "dup" "0" "00006" "TRMU_000021" "g.46751421dup" "" "{PMID:Retterer 2016:26633542}" "" "954dupC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.46355524dup" "" "pathogenic" "" "0001059257" "0" "90" "22" "46748173" "46748173" "subst" "4.06058E-6" "00006" "TRMU_000020" "g.46748173C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.46352276C>T" "" "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 TRMU ## Count = 29 "{{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}}" "0000064455" "00021890" "50" "249" "-48" "249" "-48" "c.249-48del" "r.(=)" "p.(=)" "" "0000064456" "00021890" "50" "652" "-74" "652" "-74" "c.652-74G>A" "r.(=)" "p.(=)" "" "0000064457" "00021890" "50" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Ala10Ser)" "" "0000064458" "00021890" "50" "82" "20" "82" "20" "c.82+20dup" "r.(=)" "p.(=)" "" "0000064459" "00021890" "50" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Glu281Lys)" "" "0000064460" "00021890" "10" "1618" "0" "1618" "0" "c.*352T>C" "r.(=)" "p.(=)" "" "0000064461" "00021890" "10" "1274" "0" "1274" "0" "c.*8G>C" "r.(=)" "p.(=)" "" "0000064462" "00021890" "10" "478" "45" "478" "45" "c.478+45T>G" "r.(=)" "p.(=)" "" "0000064463" "00021890" "50" "652" "-16" "652" "-16" "c.652-16C>T" "r.(=)" "p.(=)" "" "0000064464" "00021890" "50" "248" "30" "248" "30" "c.248+30T>C" "r.(=)" "p.(=)" "" "0000317115" "00021890" "50" "709" "0" "709" "0" "c.709C>A" "r.(?)" "p.(Leu237Met)" "" "0000417816" "00021890" "55" "967" "0" "967" "0" "c.967C>T" "r.967c>u" "p.Arg323Trp" "9" "0000651006" "00021890" "30" "-128" "0" "-128" "0" "c.-128A>G" "r.(=)" "p.(=)" "" "0000651007" "00021890" "10" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Ala10Ser)" "" "0000651008" "00021890" "70" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Val279Met)" "" "0000660310" "00021890" "90" "287" "0" "287" "0" "c.287A>G" "r.(?)" "p.(Asn96Ser)" "" "0000669727" "00021890" "30" "-128" "0" "-128" "0" "c.-128A>G" "r.(=)" "p.(=)" "" "0000669728" "00021890" "10" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Ala10Ser)" "" "0000681918" "00021890" "50" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Val279Met)" "" "0000728202" "00021890" "50" "167" "0" "167" "0" "c.167A>T" "r.(?)" "p.(Asp56Val)" "" "0000728203" "00021890" "30" "900" "0" "900" "0" "c.900G>T" "r.(?)" "p.(Leu300=)" "" "0000856193" "00021890" "30" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Glu148Lys)" "" "0000895791" "00021890" "10" "387" "0" "387" "0" "c.387A>G" "r.(?)" "p.(Ala129=)" "" "0001011922" "00021890" "90" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Val279Met)" "" "0001043933" "00021890" "30" "900" "0" "900" "0" "c.900G>T" "r.(?)" "p.(Leu300=)" "" "0001057215" "00021890" "10" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Ala160Val)" "" "0001059255" "00021890" "90" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Val279Met)" "" "0001059256" "00021890" "90" "954" "0" "954" "0" "c.954dup" "r.(?)" "p.(Ala319ArgfsTer87)" "" "0001059257" "00021890" "90" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000037330" "0000064455" "0000037331" "0000064456" "0000037332" "0000064457" "0000037333" "0000064458" "0000037334" "0000064459" "0000037335" "0000064460" "0000037336" "0000064461" "0000037337" "0000064462" "0000037338" "0000064463" "0000037339" "0000064464" "0000205221" "0000417816" "0000294317" "0000651006" "0000294318" "0000651007" "0000294319" "0000651008" "0000297701" "0000660310" "0000306039" "0000669727" "0000306040" "0000669728" "0000457419" "0001011922" "0000471133" "0001059255" "0000471134" "0001059256" "0000471135" "0001059257"