### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COQ6) # 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}}" "COQ6" "coenzyme Q6 homolog, monooxygenase (S. cerevisiae)" "14" "q24.1" "unknown" "NG_032805.1" "UD_136023374976" "" "https://www.LOVD.nl/COQ6" "" "1" "20233" "51004" "614647" "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/COQ6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-09-14 12:01:00" "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}}" "00005541" "COQ6" "transcript variant 1" "002" "NM_182476.2" "" "NP_872282.1" "" "" "" "-81" "1520" "1407" "74416955" "74429815" "" "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" "03692" "COQ10D6" "coenzyme Q10 deficiency, primary, type 6 (COQ10D-6)" "AR" "614650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "COQ6" "03692" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00035429" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035430" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035431" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035432" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035433" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035434" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035435" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035436" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035437" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035438" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035439" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00180941" "" "" "" "1" "" "02316" "" "" "F" "yes" "Turkey" "11y" "0" "yes" "COQ10 oral, renal transplantation" "white" "" "00291106" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00180941" "03692" "00291106" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03692 ## Count = 1 "{{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}}" "0000143212" "03692" "00180941" "02316" "Familial, autosomal recessive" "09y" "steroid resistant nephrotic syndrome, end stage renal disease, sensorineural deafness" "07y" "09y" "7y" "" "" "" "" "" "COQ10D-6" "steroid resistant nephrotic syndrom" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035499" "00035429" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035500" "00035430" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035501" "00035431" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035502" "00035432" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035503" "00035433" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035504" "00035434" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035505" "00035435" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035506" "00035436" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035507" "00035437" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035508" "00035438" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035509" "00035439" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000181881" "00180941" "1" "02316" "02316" "2018-09-14 09:46:24" "" "" "SEQ-NG-IT" "DNA" "periferic blood cells" "30 gene targeted panel screening,ACTN4 ADCK4 GSN ARHGAP24 ARHGDIA CD2AP COL4A3 COL4A4 COL4A5 COQ6 DGKE EMP2 GSN INF2 ITGA3 LAMB2 LMX1B MYO1E NPHP4 NPHS1 NPHS2 PDSS2 PLCE1 PTPRO SCARB2 SMARCAL1 STS TRPC6 WDR73" "0000292274" "00291106" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000035499" "COQ6" "0000035500" "COQ6" "0000035501" "COQ6" "0000035502" "COQ6" "0000035503" "COQ6" "0000035504" "COQ6" "0000035505" "COQ6" "0000035506" "COQ6" "0000035507" "COQ6" "0000035508" "COQ6" "0000035509" "COQ6" "0000181881" "ZXDC" ## 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}}" "0000062618" "1" "50" "14" "74413840" "74413840" "subst" "0" "01164" "COQ6_000006" "g.74413840G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.73947137G>C" "" "VUS" "" "0000062619" "1" "10" "14" "74416945" "74416945" "subst" "0.156516" "01164" "COQ6_000007" "g.74416945G>C" "frequency 15-30%" "" "" "" "" "Germline" "" "rs17552038" "0" "" "" "g.73950242G>C" "" "benign" "" "0000062620" "1" "10" "14" "74420127" "74420127" "subst" "0.232169" "01164" "COQ6_000008" "g.74420127C>T" "frequency up to 50%" "" "" "" "" "Germline" "" "rs3213692" "0" "" "" "g.73953424C>T" "" "benign" "" "0000062621" "1" "10" "14" "74424938" "74424938" "subst" "0.336016" "01164" "COQ6_000010" "g.74424938T>C" "frequency up to 10%" "" "" "" "" "Germline" "" "rs3180946" "0" "" "" "g.73958235T>C" "" "benign" "" "0000062622" "1" "10" "14" "74425056" "74425056" "subst" "0.442594" "01164" "COQ6_000011" "g.74425056C>A" "frequency 25-50%" "" "" "" "" "Germline" "" "rs3764859" "0" "" "" "g.73958353C>A" "" "benign" "" "0000062623" "1" "10" "14" "74428286" "74428286" "subst" "0.883688" "01164" "COQ6_000004" "g.74428286A>G" "frequency up to 15%" "" "" "" "" "Germline" "" "rs7141392" "0" "" "" "g.73961583A>G" "" "benign" "" "0000062624" "1" "10" "14" "74428445" "74428445" "subst" "0.44083" "01164" "COQ6_000002" "g.74428445G>A" "frequency 20-40%" "" "" "" "" "Germline" "" "rs8500" "0" "" "" "g.73961742G>A" "" "benign" "" "0000062625" "1" "50" "14" "74413495" "74413495" "subst" "0" "01164" "COQ6_000005" "g.74413495T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.73946792T>C" "" "VUS" "" "0000062626" "1" "10" "14" "74422329" "74422329" "subst" "0.184404" "01164" "COQ6_000009" "g.74422329G>C" "frequency 25-50%" "" "" "" "" "Germline" "" "rs2302118" "0" "" "" "g.73955626G>C" "" "benign" "" "0000062627" "1" "10" "14" "74428000" "74428000" "subst" "0.0772464" "01164" "COQ6_000003" "g.74428000A>T" "frequency up to 10%" "" "" "" "" "Germline" "" "rs2074930" "0" "" "" "g.73961297A>T" "" "benign" "" "0000062628" "1" "50" "14" "74429848" "74429848" "subst" "0" "01164" "COQ6_000001" "g.74429848G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.73963145G>C" "" "VUS" "" "0000249193" "0" "10" "14" "74428286" "74428286" "subst" "0.883688" "02325" "COQ6_000004" "g.74428286A>G" "" "" "" "COQ6(NM_182476.3):c.1210+13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73961583A>G" "" "benign" "" "0000267083" "0" "10" "14" "74428445" "74428445" "subst" "0.44083" "02325" "COQ6_000002" "g.74428445G>A" "" "" "" "COQ6(NM_182480.3):c.1141G>A (p.V381M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73961742G>A" "" "benign" "" "0000323753" "0" "50" "14" "74416777" "74416788" "del" "0" "01804" "COQ6_000012" "g.74416777_74416788del" "" "" "" "FAM161B(NM_152445.2):c.139_150del (p.(Arg47_His50del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73950074_73950085del" "" "VUS" "" "0000323754" "0" "50" "14" "74416832" "74416832" "subst" "0.00236918" "01804" "COQ6_000013" "g.74416832G>T" "" "" "" "COQ6(NM_182476.2):c.-204G>T (p.(=)), COQ6(NM_182480.2):c.37G>T (p.V13F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73950129G>T" "" "VUS" "" "0000323755" "0" "50" "14" "74428482" "74428482" "subst" "4.06085E-5" "01804" "COQ6_000014" "g.74428482G>A" "" "" "" "COQ6(NM_182476.2):c.1253G>A (p.(Arg418His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73961779G>A" "" "VUS" "" "0000405576" "3" "90" "14" "74428042" "74428042" "subst" "0" "02316" "COQ6_000015" "g.74428042C>A" "2/382 chromosomes" "" "" "" "" "Germline" "no" "rs397514479" "0" "" "" "g.73961339C>A" "{CV:31595}" "pathogenic (recessive)" "" "0000552968" "0" "10" "14" "74424938" "74424938" "subst" "0.336016" "02325" "COQ6_000010" "g.74424938T>C" "" "" "" "COQ6(NM_182480.3):c.495T>C (p.H165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73958235T>C" "" "benign" "" "0000552969" "0" "50" "14" "74441642" "74441642" "subst" "2.8444E-5" "01943" "COQ6_000016" "g.74441642C>T" "" "" "" "ENTPD5(NM_001321988.1):c.769G>A (p.A257T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73974939C>T" "" "VUS" "" "0000648963" "1" "10" "14" "74428247" "74428247" "subst" "0.0018321" "03575" "COQ6_000017" "g.74428247C>T" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs34746680}" "Germline" "" "rs34746680" "0" "" "" "g.73961544C>T" "" "benign" "" "0000657476" "0" "30" "14" "74416836" "74416836" "subst" "0.00394084" "02326" "COQ6_000018" "g.74416836G>A" "" "" "" "COQ6(NM_182480.2):c.41G>A (p.W14*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73950133G>A" "" "likely benign" "" "0000680023" "0" "90" "14" "74425907" "74425907" "subst" "0" "02325" "COQ6_000019" "g.74425907G>A" "" "" "" "COQ6(NM_182480.3):c.688G>A (p.G230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806476" "0" "30" "14" "74422545" "74422545" "subst" "0.0016527" "02326" "COQ6_000020" "g.74422545A>G" "" "" "" "COQ6(NM_182480.2):c.320A>G (p.D107G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853876" "0" "10" "14" "74416832" "74416832" "subst" "0.00236918" "02326" "COQ6_000013" "g.74416832G>T" "" "" "" "COQ6(NM_182476.2):c.-204G>T (p.(=)), COQ6(NM_182480.2):c.37G>T (p.V13F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853877" "0" "30" "14" "74417209" "74417209" "subst" "0.00232102" "02326" "COQ6_000021" "g.74417209C>T" "" "" "" "COQ6(NM_182476.3):c.163+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853878" "0" "10" "14" "74428548" "74428548" "subst" "0.000974698" "02326" "COQ6_000022" "g.74428548C>A" "" "" "" "COQ6(NM_182476.3):c.1319C>A (p.P440Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891861" "0" "30" "14" "74417180" "74417180" "subst" "0.00169647" "02326" "COQ6_000023" "g.74417180G>T" "" "" "" "COQ6(NM_182476.3):c.145G>T (p.A49S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891862" "0" "30" "14" "74422603" "74422603" "subst" "0.000121837" "02326" "COQ6_000024" "g.74422603T>C" "" "" "" "COQ6(NM_182476.3):c.453T>C (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891863" "0" "30" "14" "74426177" "74426177" "subst" "0.000146182" "02326" "COQ6_000025" "g.74426177A>G" "" "" "" "COQ6(NM_182476.3):c.843A>G (p.L281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891864" "0" "30" "14" "74428247" "74428247" "subst" "0.0018321" "02326" "COQ6_000017" "g.74428247C>T" "" "" "" "COQ6(NM_182476.3):c.1184C>T (p.T395M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914212" "0" "10" "14" "74420127" "74420127" "subst" "0.232169" "02325" "COQ6_000008" "g.74420127C>T" "" "" "" "COQ6(NM_182476.3):c.164-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914213" "0" "30" "14" "74422599" "74422599" "subst" "0.000609142" "02326" "COQ6_000026" "g.74422599A>G" "" "" "" "COQ6(NM_182476.3):c.449A>G (p.(His150Arg), p.H150R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914214" "0" "30" "14" "74428069" "74428069" "subst" "0" "02326" "COQ6_000027" "g.74428069C>T" "" "" "" "COQ6(NM_182476.3):c.1085C>T (p.A362V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950272" "0" "90" "14" "74425907" "74425907" "subst" "0" "02327" "COQ6_000019" "g.74425907G>A" "" "" "" "COQ6(NM_182480.3):c.688G>A (p.G230R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980989" "0" "50" "14" "74417180" "74417180" "subst" "0" "01804" "COQ6_000028" "g.74417180G>A" "" "" "" "COQ6(NM_182476.3):c.145G>A (p.(Ala49Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980990" "0" "30" "14" "74422599" "74422599" "subst" "0.000609142" "01804" "COQ6_000026" "g.74422599A>G" "" "" "" "COQ6(NM_182476.3):c.449A>G (p.(His150Arg), p.H150R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001138" "0" "30" "14" "74404718" "74404718" "subst" "2.03032E-5" "01804" "COQ6_000029" "g.74404718G>A" "" "" "" "FAM161B(NM_152445.2):c.1687C>T (p.(Arg563Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015166" "0" "50" "14" "74422201" "74422201" "subst" "0.000194906" "02327" "COQ6_000030" "g.74422201C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015167" "0" "90" "14" "74425926" "74425926" "subst" "5.28026E-5" "02326" "COQ6_000031" "g.74425926C>T" "" "" "" "COQ6(NM_182476.3):c.782C>T (p.P261L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040069" "0" "30" "14" "74424866" "74424866" "subst" "0.000146182" "01804" "COQ6_000032" "g.74424866C>T" "" "" "" "COQ6(NM_182476.3):c.498C>T (p.(Leu166=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 COQ6 ## 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}}" "0000062618" "00005541" "50" "-3196" "0" "-3196" "0" "c.-3196G>C" "r.(=)" "p.(=)" "" "0000062619" "00005541" "10" "-91" "0" "-91" "0" "c.-91G>C" "r.(=)" "p.(=)" "" "0000062620" "00005541" "10" "164" "-11" "164" "-11" "c.164-11C>T" "r.(=)" "p.(=)" "" "0000062621" "00005541" "10" "570" "0" "570" "0" "c.570T>C" "r.(=)" "p.(=)" "" "0000062622" "00005541" "10" "612" "76" "612" "76" "c.612+76C>A" "r.(=)" "p.(=)" "" "0000062623" "00005541" "10" "1210" "13" "1210" "13" "c.1210+13A>G" "r.(=)" "p.(=)" "" "0000062624" "00005541" "10" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Val406Met)" "" "0000062625" "00005541" "50" "-3541" "0" "-3541" "0" "c.-3541T>C" "r.(=)" "p.(=)" "" "0000062626" "00005541" "10" "357" "117" "357" "117" "c.357+117G>C" "r.(=)" "p.(=)" "" "0000062627" "00005541" "10" "1016" "0" "1016" "0" "c.1016A>T" "r.(?)" "p.(Asp339Val)" "" "0000062628" "00005541" "50" "1553" "0" "1553" "0" "c.*146G>C" "r.(=)" "p.(=)" "" "0000249193" "00005541" "10" "1210" "13" "1210" "13" "c.1210+13A>G" "r.(=)" "p.(=)" "" "0000267083" "00005541" "10" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Val406Met)" "" "0000323753" "00005541" "50" "-259" "0" "-248" "0" "c.-259_-248del" "r.(?)" "p.(=)" "" "0000323754" "00005541" "50" "-204" "0" "-204" "0" "c.-204G>T" "r.(?)" "p.(=)" "" "0000323755" "00005541" "50" "1253" "0" "1253" "0" "c.1253G>A" "r.(?)" "p.(Arg418His)" "" "0000405576" "00005541" "90" "1058" "0" "1058" "0" "c.1058C>A" "r.(?)" "p.(Ala353Asp)" "9" "0000552968" "00005541" "10" "570" "0" "570" "0" "c.570T>C" "r.(?)" "p.(His190=)" "" "0000552969" "00005541" "50" "13347" "0" "13347" "0" "c.*11940C>T" "r.(=)" "p.(=)" "" "0000648963" "00005541" "10" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Thr395Met)" "" "0000657476" "00005541" "30" "-200" "0" "-200" "0" "c.-200G>A" "r.(?)" "p.(=)" "" "0000680023" "00005541" "90" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Gly255Arg)" "" "0000806476" "00005541" "30" "395" "0" "395" "0" "c.395A>G" "r.(?)" "p.(Asp132Gly)" "" "0000853876" "00005541" "10" "-204" "0" "-204" "0" "c.-204G>T" "r.(?)" "p.(=)" "" "0000853877" "00005541" "30" "163" "11" "163" "11" "c.163+11C>T" "r.(=)" "p.(=)" "" "0000853878" "00005541" "10" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Pro440Gln)" "" "0000891861" "00005541" "30" "145" "0" "145" "0" "c.145G>T" "r.(?)" "p.(Ala49Ser)" "" "0000891862" "00005541" "30" "453" "0" "453" "0" "c.453T>C" "r.(?)" "p.(Ala151=)" "" "0000891863" "00005541" "30" "843" "0" "843" "0" "c.843A>G" "r.(?)" "p.(Leu281=)" "" "0000891864" "00005541" "30" "1184" "0" "1184" "0" "c.1184C>T" "r.(?)" "p.(Thr395Met)" "" "0000914212" "00005541" "10" "164" "-11" "164" "-11" "c.164-11C>T" "r.(=)" "p.(=)" "" "0000914213" "00005541" "30" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(His150Arg)" "" "0000914214" "00005541" "30" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Ala362Val)" "" "0000950272" "00005541" "90" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Gly255Arg)" "" "0000980989" "00005541" "50" "145" "0" "145" "0" "c.145G>A" "r.(?)" "p.(Ala49Thr)" "" "0000980990" "00005541" "30" "449" "0" "449" "0" "c.449A>G" "r.(?)" "p.(His150Arg)" "" "0001001138" "00005541" "30" "-12318" "0" "-12318" "0" "c.-12318G>A" "r.(?)" "p.(=)" "" "0001015166" "00005541" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Trp)" "" "0001015167" "00005541" "90" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Pro261Leu)" "" "0001040069" "00005541" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000035499" "0000062618" "0000035500" "0000062619" "0000035501" "0000062620" "0000035502" "0000062621" "0000035503" "0000062622" "0000035504" "0000062623" "0000035505" "0000062624" "0000035506" "0000062625" "0000035507" "0000062626" "0000035508" "0000062627" "0000035509" "0000062628" "0000181881" "0000405576" "0000292274" "0000648963"