### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MRPS34) # 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}}" "MRPS34" "mitochondrial ribosomal protein S34" "16" "p13.3" "unknown" "NC_000016.9" "UD_136089323952" "" "https://www.LOVD.nl/MRPS34" "" "1" "16618" "65993" "611994" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MRPS34_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-08 11:29:56" "00000" "2025-05-05 21:14:00" ## 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}}" "00013918" "MRPS34" "mitochondrial ribosomal protein S34" "001" "NM_023936.1" "" "NP_076425.1" "" "" "" "-20" "983" "657" "1823140" "1821896" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05439" "COXPD32" "combined oxidative phosphorylation deficiency, type 1 (COXPD-32)" "AR" "617664" "" "autosomal recessive" "" "00006" "2018-06-08 11:31:50" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MRPS34" "05439" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00164764" "" "" "" "1" "" "00006" "{PMID:Lake 2017:228777931}" "2-generation family, 1 affected, unaffected carrier parents" "M" "yes" "Italy" "" "0" "" "" "" "228777931-FamPatS1" "00164765" "" "" "" "2" "" "00006" "{PMID:Lake 2017:228777931}" "2-generation family, 2 affected sisters, unaffected carrier parents" "F" "" "Puerto Rico" "" "0" "" "" "" "228777931-FamPat2a/b" "00164766" "" "" "" "2" "" "00006" "{PMID:Lake 2017:228777931}" "2-generation family, 2 affected sisters, unaffected carrier parents" "F" "" "Puerto Rico" "" "0" "" "" "" "228777931-FamPat3a/b" "00164767" "" "" "" "1" "" "00006" "{PMID:Lake 2017:228777931}" "2-generation family, 1 affected, unaffected carrier parents" "M" "" "France" "" "0" "" "" "" "228777931-FamPat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00164764" "00198" "00164765" "00198" "00164766" "00198" "00164767" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05439 ## Count = 4 "{{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}}" "0000129782" "00198" "00164764" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leigh syndrome (compatible neuroimaging or postmortem findings), hyperlacticacidemia, microcephaly" "00y04m" "" "" "" "" "" "" "" "" "Leigh syndrome" "" "0000129783" "00198" "00164765" "00006" "Familial, autosomal recessive" "" "see paper; ..., PatS2a Leigh syndrome, non-verbal, microcephaly, horseshoe kidney, mild coarsening facial features; PatS2b Leigh-like syndrome, abnormal MRI, non-verbal, microcephaly, mild coarsening of facial features" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" "0000129784" "00198" "00164766" "00006" "Familial, autosomal recessive" "" "see paper; ..., Pat3a Leigh syndrome, non-verbal, suspected sleep apnea, dysmorphic facies, precocious adrenarche; Pat3b Leigh syndrome, suspected sleep apnea" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" "0000129785" "00198" "00164767" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leigh syndrome, transient metabolic acidosis, hemodynamic instability related to tubulopathy" "" "" "" "" "" "" "" "" "" "Leigh syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165630" "00164764" "1" "00006" "00006" "2018-06-08 11:36:14" "00006" "2018-06-08 11:38:53" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000165631" "00164765" "1" "00006" "00006" "2018-06-08 11:43:24" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000165632" "00164766" "1" "00006" "00006" "2018-06-08 11:52:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000165633" "00164767" "1" "00006" "00006" "2018-06-08 11:56:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000165630" "MRPS34" "0000165631" "MRPS34" "0000165632" "MRPS34" "0000165633" "MRPS34" ## 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 = 40 "{{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}}" "0000324429" "0" "30" "16" "1821330" "1821330" "subst" "9.41079E-6" "01804" "NME3_000001" "g.1821330C>T" "" "" "" "NME3(NM_002513.2):c.128G>A (p.(Arg43Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1771329C>T" "" "likely benign" "" "0000324430" "0" "50" "16" "1822949" "1822949" "subst" "0" "01804" "MRPS34_000001" "g.1822949C>A" "" "" "" "MRPS34(NM_023936.1):c.172G>T (p.(Val58Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1772948C>A" "" "VUS" "" "0000324433" "0" "50" "16" "1823392" "1823392" "del" "0" "01804" "EME2_000001" "g.1823392del" "" "" "" "EME2(NM_001257370.1):c.162del (p.(Gly55ValfsTer19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1773391del" "" "VUS" "" "0000324434" "0" "50" "16" "1825626" "1825626" "subst" "8.14452E-6" "01804" "EME2_000002" "g.1825626G>A" "" "" "" "EME2(NM_001257370.1):c.720G>A (p.(Trp240Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1775625G>A" "" "VUS" "" "0000324435" "0" "50" "16" "1825669" "1825669" "subst" "3.66256E-5" "01804" "EME2_000003" "g.1825669G>A" "" "" "" "EME2(NM_001257370.1):c.763G>A (p.(Ala255Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1775668G>A" "" "VUS" "" "0000324436" "0" "50" "16" "1825897" "1825897" "subst" "0" "01804" "EME2_000004" "g.1825897G>C" "" "" "" "EME2(NM_001257370.1):c.879G>C (p.(Trp293Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1775896G>C" "" "VUS" "" "0000369362" "3" "90" "16" "1822799" "1822799" "subst" "0" "00006" "MRPS34_000004" "g.1822799C>A" "" "{PMID:Lake 2017:228777931}" "" "" "" "Germline" "" "" "0" "" "" "g.1772798C>A" "" "pathogenic" "" "0000369363" "3" "90" "16" "1822657" "1822657" "subst" "8.4458E-6" "00006" "MRPS34_000005" "g.1822657C>T" "" "{PMID:Lake 2017:228777931}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1772656C>T" "" "pathogenic" "" "0000369364" "3" "90" "16" "1822657" "1822657" "subst" "8.4458E-6" "00006" "MRPS34_000005" "g.1822657C>T" "" "{PMID:Lake 2017:228777931}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1772656C>T" "" "pathogenic" "" "0000369365" "11" "90" "16" "1823027" "1823027" "subst" "0.000442359" "00006" "MRPS34_000002" "g.1823027G>A" "" "{PMID:Lake 2017:228777931}" "" "" "" "Germline" "" "" "0" "" "" "g.1773026G>A" "" "pathogenic" "" "0000369366" "21" "90" "16" "1823084" "1823084" "subst" "0" "00006" "MRPS34_000006" "g.1823084C>T" "" "{PMID:Lake 2017:228777931}" "" "" "" "Germline" "" "" "0" "" "" "g.1773083C>T" "" "pathogenic" "" "0000557011" "0" "50" "16" "1818311" "1818311" "subst" "0" "02327" "MRPS34_000007" "g.1818311C>T" "" "" "" "MAPK8IP3(NM_001040439.1):c.3653C>T (p.(Ser1218Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1768310C>T" "" "VUS" "" "0000557012" "0" "30" "16" "1821082" "1821082" "subst" "0.000471389" "01804" "MRPS34_000008" "g.1821082C>A" "" "" "" "NME3(NM_002513.2):c.268G>T (p.(Val90Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1771081C>A" "" "likely benign" "" "0000557014" "0" "90" "16" "1823027" "1823027" "subst" "0.000442359" "02325" "MRPS34_000002" "g.1823027G>A" "" "" "" "MRPS34(NM_001300900.2):c.94C>T (p.Q32*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1773026G>A" "" "pathogenic" "" "0000557016" "0" "30" "16" "1823820" "1823820" "subst" "0" "01804" "MRPS34_000011" "g.1823820G>T" "" "" "" "EME2(NM_001257370.1):c.362G>T (p.(Ser121Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1773819G>T" "" "likely benign" "" "0000557017" "0" "30" "16" "1825407" "1825407" "subst" "0.000478161" "01804" "MRPS34_000012" "g.1825407G>A" "" "" "" "EME2(NM_001257370.1):c.661G>A (p.(Glu221Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1775406G>A" "" "likely benign" "" "0000557018" "0" "30" "16" "1825982" "1825982" "subst" "0.00821717" "01804" "MRPS34_000013" "g.1825982C>T" "" "" "" "EME2(NM_001257370.1):c.964C>T (p.(Gln322Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1775981C>T" "" "likely benign" "" "0000615814" "0" "70" "16" "1817300" "1817300" "subst" "0" "02327" "MRPS34_000014" "g.1817300C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1767299C>G" "" "likely pathogenic" "" "0000657763" "0" "50" "16" "1816954" "1816954" "subst" "0" "02325" "MRPS34_000015" "g.1816954A>G" "" "" "" "MAPK8IP3(NM_001318852.2):c.3070A>G (p.I1024V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1766953A>G" "" "VUS" "" "0000680435" "0" "50" "16" "1816913" "1816913" "subst" "0" "02325" "MRPS34_000017" "g.1816913A>G" "" "" "" "MAPK8IP3(NM_001318852.2):c.3029A>G (p.K1010R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725503" "0" "50" "16" "1816964" "1816964" "subst" "0" "02329" "MRPS34_000016" "g.1816964G>C" "" "" "" "MAPK8IP3(NM_001318852.1):c.3080G>C (p.R1027P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725504" "0" "50" "16" "1818294" "1818294" "subst" "8.20102E-6" "02325" "MRPS34_000018" "g.1818294C>A" "" "" "" "MAPK8IP3(NM_001040439.2):c.3636C>A (p.S1212R), MAPK8IP3(NM_001318852.2):c.3657C>A (p.S1219R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725505" "0" "50" "16" "1825639" "1825639" "subst" "4.47952E-5" "01943" "MRPS34_000019" "g.1825639C>T" "" "" "" "EME2(NM_001257370.1):c.733C>T (p.R245W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892594" "0" "30" "16" "1818820" "1818820" "subst" "4.16729E-5" "02325" "MRPS34_000020" "g.1818820G>A" "" "" "" "MAPK8IP3(NM_001040439.2):c.3988G>A (p.E1330K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914497" "0" "50" "16" "1817836" "1817836" "subst" "0" "02325" "MRPS34_000021" "g.1817836G>A" "" "" "" "MAPK8IP3(NM_001040439.1):c.3419G>A (p.(Arg1140His)), MAPK8IP3(NM_001040439.2):c.3419G>A (p.R1140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968148" "0" "30" "16" "1818241" "1818241" "subst" "3.68014E-5" "02325" "MRPS34_000022" "g.1818241G>A" "" "" "" "MAPK8IP3(NM_001040439.1):c.3583G>A (p.(Gly1195Arg)), MAPK8IP3(NM_001040439.2):c.3583G>A (p.G1195R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981669" "0" "30" "16" "1825793" "1825793" "subst" "8.98275E-5" "01804" "MRPS34_000023" "g.1825793C>T" "" "" "" "EME2(NM_001257370.2):c.780-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981670" "0" "30" "16" "1825794" "1825794" "subst" "4.49343E-5" "01804" "MRPS34_000024" "g.1825794C>T" "" "" "" "EME2(NM_001257370.2):c.780-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001991" "0" "90" "16" "1817835" "1817835" "subst" "0" "02327" "MAPK8IP3_000013" "g.1817835C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001992" "0" "70" "16" "1817836" "1817836" "subst" "0" "01804" "MRPS34_000021" "g.1817836G>A" "" "" "" "MAPK8IP3(NM_001040439.1):c.3419G>A (p.(Arg1140His)), MAPK8IP3(NM_001040439.2):c.3419G>A (p.R1140H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001993" "0" "50" "16" "1818227" "1818227" "subst" "0" "01804" "MRPS34_000025" "g.1818227A>T" "" "" "" "MAPK8IP3(NM_001040439.1):c.3569A>T (p.(Glu1190Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001994" "0" "30" "16" "1818235" "1818235" "subst" "3.67951E-5" "01804" "MRPS34_000026" "g.1818235C>T" "" "" "" "MAPK8IP3(NM_001040439.1):c.3577C>T (p.(Arg1193Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001995" "0" "50" "16" "1818236" "1818236" "subst" "0.000114461" "01804" "MRPS34_000027" "g.1818236G>A" "" "" "" "MAPK8IP3(NM_001040439.1):c.3578G>A (p.(Arg1193His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001996" "0" "50" "16" "1818241" "1818241" "subst" "3.68014E-5" "01804" "MRPS34_000022" "g.1818241G>A" "" "" "" "MAPK8IP3(NM_001040439.1):c.3583G>A (p.(Gly1195Arg)), MAPK8IP3(NM_001040439.2):c.3583G>A (p.G1195R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001997" "0" "50" "16" "1818294" "1818294" "subst" "8.20102E-6" "02329" "MRPS34_000018" "g.1818294C>A" "" "" "" "MAPK8IP3(NM_001040439.2):c.3636C>A (p.S1212R), MAPK8IP3(NM_001318852.2):c.3657C>A (p.S1219R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001998" "0" "50" "16" "1818311" "1818311" "subst" "0" "01804" "MRPS34_000007" "g.1818311C>T" "" "" "" "MAPK8IP3(NM_001040439.1):c.3653C>T (p.(Ser1218Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001999" "0" "50" "16" "1818809" "1818809" "subst" "4.15821E-6" "01804" "MRPS34_000028" "g.1818809C>T" "" "" "" "MAPK8IP3(NM_001040439.1):c.3977C>T (p.(Ser1326Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002000" "0" "50" "16" "1818820" "1818820" "subst" "0" "01804" "MRPS34_000029" "g.1818820G>T" "" "" "" "MAPK8IP3(NM_001040439.1):c.3988G>T (p.(Glu1330*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040859" "0" "30" "16" "1818561" "1818561" "subst" "2.18704E-5" "01804" "MRPS34_000030" "g.1818561G>A" "" "" "" "MAPK8IP3(NM_001318852.2):c.3826G>A (p.(Glu1276Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040860" "0" "50" "16" "1823120" "1823120" "subst" "0" "01804" "MRPS34_000031" "g.1823120T>A" "" "" "" "MRPS34(NM_023936.2):c.1A>T (p.(Met1?))" "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 MRPS34 ## Count = 40 "{{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}}" "0000324429" "00013918" "30" "1549" "0" "1549" "0" "c.*892G>A" "r.(=)" "p.(=)" "" "0000324430" "00013918" "50" "172" "0" "172" "0" "c.172G>T" "r.(?)" "p.(Val58Leu)" "" "0000324433" "00013918" "50" "-270" "0" "-270" "0" "c.-270del" "r.(?)" "p.(=)" "" "0000324434" "00013918" "50" "-2506" "0" "-2506" "0" "c.-2506C>T" "r.(?)" "p.(=)" "" "0000324435" "00013918" "50" "-2549" "0" "-2549" "0" "c.-2549C>T" "r.(?)" "p.(=)" "" "0000324436" "00013918" "50" "-2777" "0" "-2777" "0" "c.-2777C>G" "r.(?)" "p.(=)" "" "0000369362" "00013918" "90" "321" "1" "321" "1" "c.321+1G>T" "r.298_321del" "p.Val100_Gln107del" "1i" "0000369363" "00013918" "90" "322" "-10" "322" "-10" "c.322-10G>A" "r.[r.321_322ins322-8_322-1;322_364del]" "p.Asn108Leufs*12;Asn108Glyfs*50]" "1i" "0000369364" "00013918" "90" "322" "-10" "322" "-10" "c.322-10G>A" "r.spl" "p.(=)" "1i" "0000369365" "00013918" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32*)" "1" "0000369366" "00013918" "90" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Glu13Lys)" "1" "0000557011" "00013918" "50" "4568" "0" "4568" "0" "c.*3911G>A" "r.(=)" "p.(=)" "" "0000557012" "00013918" "30" "1797" "0" "1797" "0" "c.*1140G>T" "r.(=)" "p.(=)" "" "0000557014" "00013918" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Gln32Ter)" "" "0000557016" "00013918" "30" "-700" "0" "-700" "0" "c.-700C>A" "r.(?)" "p.(=)" "" "0000557017" "00013918" "30" "-2287" "0" "-2287" "0" "c.-2287C>T" "r.(?)" "p.(=)" "" "0000557018" "00013918" "30" "-2862" "0" "-2862" "0" "c.-2862G>A" "r.(?)" "p.(=)" "" "0000615814" "00013918" "70" "5579" "0" "5579" "0" "c.*4922G>C" "r.(=)" "p.(=)" "" "0000657763" "00013918" "50" "5925" "0" "5925" "0" "c.*5268T>C" "r.(=)" "p.(=)" "" "0000680435" "00013918" "50" "5966" "0" "5966" "0" "c.*5309T>C" "r.(=)" "p.(=)" "" "0000725503" "00013918" "50" "5915" "0" "5915" "0" "c.*5258C>G" "r.(=)" "p.(=)" "" "0000725504" "00013918" "50" "4585" "0" "4585" "0" "c.*3928G>T" "r.(=)" "p.(=)" "" "0000725505" "00013918" "50" "-2519" "0" "-2519" "0" "c.-2519G>A" "r.(?)" "p.(=)" "" "0000892594" "00013918" "30" "4059" "0" "4059" "0" "c.*3402C>T" "r.(=)" "p.(=)" "" "0000914497" "00013918" "50" "5043" "0" "5043" "0" "c.*4386C>T" "r.(=)" "p.(=)" "" "0000968148" "00013918" "30" "4638" "0" "4638" "0" "c.*3981C>T" "r.(=)" "p.(=)" "" "0000981669" "00013918" "30" "-2673" "0" "-2673" "0" "c.-2673G>A" "r.(?)" "p.(=)" "" "0000981670" "00013918" "30" "-2674" "0" "-2674" "0" "c.-2674G>A" "r.(?)" "p.(=)" "" "0001001991" "00013918" "90" "5044" "0" "5044" "0" "c.*4387G>A" "r.(=)" "p.(=)" "" "0001001992" "00013918" "70" "5043" "0" "5043" "0" "c.*4386C>T" "r.(=)" "p.(=)" "" "0001001993" "00013918" "50" "4652" "0" "4652" "0" "c.*3995T>A" "r.(=)" "p.(=)" "" "0001001994" "00013918" "30" "4644" "0" "4644" "0" "c.*3987G>A" "r.(=)" "p.(=)" "" "0001001995" "00013918" "50" "4643" "0" "4643" "0" "c.*3986C>T" "r.(=)" "p.(=)" "" "0001001996" "00013918" "50" "4638" "0" "4638" "0" "c.*3981C>T" "r.(=)" "p.(=)" "" "0001001997" "00013918" "50" "4585" "0" "4585" "0" "c.*3928G>T" "r.(=)" "p.(=)" "" "0001001998" "00013918" "50" "4568" "0" "4568" "0" "c.*3911G>A" "r.(=)" "p.(=)" "" "0001001999" "00013918" "50" "4070" "0" "4070" "0" "c.*3413G>A" "r.(=)" "p.(=)" "" "0001002000" "00013918" "50" "4059" "0" "4059" "0" "c.*3402C>A" "r.(=)" "p.(=)" "" "0001040859" "00013918" "30" "4318" "0" "4318" "0" "c.*3661C>T" "r.(=)" "p.(=)" "" "0001040860" "00013918" "50" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000165630" "0000369362" "0000165631" "0000369363" "0000165632" "0000369364" "0000165633" "0000369365" "0000165633" "0000369366"