### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFA10) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "NDUFA10" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa" "2" "q37.3" "unknown" "NC_000002.11" "UD_134408579728" "" "" "" "1" "1" "7684" "4705" "603835" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00000183" "NDUFA10" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa" "001" "NM_004544.3" "" "NP_004535.1" "" "" "" "-101" "4814" "1068" "240964819" "240896789" "00001" "2013-11-07 13:55:27" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00597" "618243" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22; MC1DN22" "618243" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NDUFA10" "00597" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 71 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000887" "0" "99" "2" "240960649" "240960649" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:10:36" "NDUFA10_000002" "g.240960649T>C" "" "{PMID:21150889:21150889}" "" "rs387906873" "subst" "0" "; clinVar; ensembl;" "4.650" "" "" "" "" "MSCV_0000887" "" "0000000888" "0" "99" "2" "240964718" "240964718" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-11-09 16:02:24" "NDUFA10_000001" "g.240964718T>C" "" "{PMID:21150889:21150889}" "" "rs387906872" "subst" "0" "; clinVar; ensembl;" "3.040" "" "" "" "" "MSCV_0000888" "" "0000019641" "0" "55" "2" "240896978" "240896978" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:02:17" "NDUFA10_000068" "g.240896978C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019641" "" "0000019642" "0" "33" "2" "240897085" "240897085" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:55" "NDUFA10_000065" "g.240897085C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019642" "" "0000019643" "0" "55" "2" "240897127" "240897127" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:57" "NDUFA10_000066" "g.240897127A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019643" "" "0000019644" "0" "55" "2" "240897186" "240897186" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:58" "NDUFA10_000067" "g.240897186C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019644" "" "0000019645" "0" "55" "2" "240897330" "240897330" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:30" "NDUFA10_000061" "g.240897330C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019645" "" "0000019646" "0" "33" "2" "240897331" "240897331" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:32" "NDUFA10_000062" "g.240897331G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019646" "" "0000019647" "0" "55" "2" "240897394" "240897394" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:33" "NDUFA10_000063" "g.240897394G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019647" "" "0000019648" "0" "55" "2" "240897422" "240897422" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:13:35" "NDUFA10_000064" "g.240897422C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019648" "" "0000019649" "0" "55" "2" "240897437" "240897437" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 07:16:42" "NDUFA10_000058" "g.240897437T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019649" "" "0000019650" "0" "55" "2" "240897460" "240897460" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:45:08" "NDUFA10_000059" "g.240897460A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019650" "" "0000019651" "0" "55" "2" "240897468" "240897468" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 02:54:01" "NDUFA10_000060" "g.240897468G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019651" "" "0000019652" "0" "55" "2" "240897538" "240897538" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:03" "NDUFA10_000045" "g.240897538C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019652" "" "0000019653" "0" "55" "2" "240897850" "240897850" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:05" "NDUFA10_000046" "g.240897850G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019653" "" "0000019654" "0" "55" "2" "240897886" "240897886" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:07" "NDUFA10_000047" "g.240897886C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019654" "" "0000019655" "0" "33" "2" "240897933" "240897933" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:08" "NDUFA10_000048" "g.240897933G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019655" "" "0000019656" "0" "55" "2" "240898040" "240898040" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 14:55:28" "NDUFA10_000049" "g.240898040G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019656" "" "0000019657" "0" "55" "2" "240898138" "240898138" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:10" "NDUFA10_000050" "g.240898138T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019657" "" "0000019658" "0" "33" "2" "240898226" "240898226" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:11" "NDUFA10_000051" "g.240898226C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019658" "" "0000019659" "0" "55" "2" "240898238" "240898238" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:12" "NDUFA10_000052" "g.240898238A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019659" "" "0000019660" "0" "55" "2" "240898343" "240898343" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:14" "NDUFA10_000053" "g.240898343A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019660" "" "0000019661" "0" "55" "2" "240898386" "240898386" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:15" "NDUFA10_000054" "g.240898386G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019661" "" "0000019662" "0" "55" "2" "240898424" "240898424" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:16" "NDUFA10_000055" "g.240898424C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019662" "" "0000019663" "0" "55" "2" "240898493" "240898493" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:18" "NDUFA10_000056" "g.240898493T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019663" "" "0000019664" "0" "33" "2" "240898578" "240898578" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:35:19" "NDUFA10_000057" "g.240898578C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019664" "" "0000019665" "0" "33" "2" "240898611" "240898612" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:10" "NDUFA10_000029" "g.240898611_240898612insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019665" "" "0000019666" "0" "55" "2" "240898620" "240898620" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:11" "NDUFA10_000030" "g.240898620C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019666" "" "0000019667" "0" "00" "2" "240898621" "240898641" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:30" "NDUFA10_000004" "g.240898621_240898641delinsCCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019667" "" "0000019668" "0" "55" "2" "240898651" "240898651" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:31" "NDUFA10_000005" "g.240898651C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019668" "" "0000019669" "0" "55" "2" "240899273" "240899273" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:33" "NDUFA10_000006" "g.240899273G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019669" "" "0000019670" "0" "33" "2" "240899306" "240899306" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:34" "NDUFA10_000007" "g.240899306G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019670" "" "0000019671" "0" "55" "2" "240899321" "240899321" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:35" "NDUFA10_000008" "g.240899321G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019671" "" "0000019672" "0" "55" "2" "240899323" "240899323" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:37" "NDUFA10_000009" "g.240899323A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019672" "" "0000019673" "0" "33" "2" "240899346" "240899346" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:38" "NDUFA10_000010" "g.240899346G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019673" "" "0000019674" "0" "55" "2" "240899406" "240899406" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 08:40:41" "NDUFA10_000011" "g.240899406C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019674" "" "0000019675" "0" "55" "2" "240899524" "240899524" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 04:15:32" "NDUFA10_000012" "g.240899524T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019675" "" "0000019676" "0" "55" "2" "240899610" "240899610" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:42" "NDUFA10_000013" "g.240899610G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019676" "" "0000019677" "0" "55" "2" "240899795" "240899795" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:44" "NDUFA10_000014" "g.240899795G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019677" "" "0000019678" "0" "55" "2" "240899888" "240899888" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:46" "NDUFA10_000015" "g.240899888G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019678" "" "0000019679" "0" "33" "2" "240899904" "240899904" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 03:24:45" "NDUFA10_000016" "g.240899904G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019679" "" "0000019680" "0" "55" "2" "240899989" "240899989" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 03:30:29" "NDUFA10_000017" "g.240899989C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019680" "" "0000019681" "0" "55" "2" "240900046" "240900046" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:52" "NDUFA10_000018" "g.240900046T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019681" "" "0000019682" "0" "33" "2" "240900097" "240900097" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 01:55:31" "NDUFA10_000019" "g.240900097G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019682" "" "0000019683" "0" "33" "2" "240900121" "240900121" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:55" "NDUFA10_000020" "g.240900121C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019683" "" "0000019684" "0" "55" "2" "240900123" "240900123" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 16:24:43" "NDUFA10_000021" "g.240900123T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019684" "" "0000019685" "0" "33" "2" "240900128" "240900128" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 03:45:08" "NDUFA10_000022" "g.240900128G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019685" "" "0000019686" "0" "55" "2" "240900146" "240900146" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:59" "NDUFA10_000023" "g.240900146G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019686" "" "0000019687" "0" "55" "2" "240900174" "240900174" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:01" "NDUFA10_000024" "g.240900174T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019687" "" "0000019688" "0" "33" "2" "240900227" "240900227" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:03" "NDUFA10_000025" "g.240900227G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019688" "" "0000019689" "0" "55" "2" "240900430" "240900430" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:04" "NDUFA10_000026" "g.240900430C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019689" "" "0000019690" "0" "77" "2" "240900606" "240900606" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:05" "NDUFA10_000027" "g.240900606G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019690" "" "0000019691" "0" "33" "2" "240900608" "240900608" "del" "35" "0.264537" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:22:07" "NDUFA10_000028" "g.240900608del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019691" "" "0000019692" "0" "99" "2" "240944636" "240944636" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 21:04:19" "NDUFA10_000031" "g.240944636A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019692" "" "0000019693" "0" "55" "2" "240944652" "240944652" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:14" "NDUFA10_000032" "g.240944652G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019693" "" "0000019694" "0" "33" "2" "240946766" "240946766" "subst" "35" "0.367692" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:15" "NDUFA10_000033" "g.240946766T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019694" "" "0000019695" "0" "55" "2" "240951023" "240951023" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:16" "NDUFA10_000034" "g.240951023G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019695" "" "0000019696" "0" "77" "2" "240954276" "240954276" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:17" "NDUFA10_000035" "g.240954276A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019696" "" "0000019697" "0" "77" "2" "240954286" "240954286" "subst" "35" "0.00199908" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 07:04:12" "NDUFA10_000036" "g.240954286T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019697" "" "0000019698" "0" "99" "2" "240960649" "240960649" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-04 03:25:38" "NDUFA10_000002" "g.240960649T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000887" "" "0000019699" "0" "99" "2" "240960689" "240960690" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:21" "NDUFA10_000037" "g.240960689_240960690insATT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019699" "" "0000019700" "0" "55" "2" "240960804" "240960804" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:22" "NDUFA10_000038" "g.240960804C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019700" "" "0000019701" "0" "33" "2" "240961728" "240961728" "subst" "35" "0.694526" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:23" "NDUFA10_000039" "g.240961728T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019701" "" "0000019702" "0" "33" "2" "240964695" "240964695" "subst" "35" "0.0286497" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 01:11:09" "NDUFA10_000040" "g.240964695C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019702" "" "0000019703" "0" "33" "2" "240964714" "240964714" "subst" "35" "0.0836682" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-01 01:29:40" "NDUFA10_000003" "g.240964714G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019703" "" "0000019704" "0" "99" "2" "240964718" "240964718" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:27" "NDUFA10_000001" "g.240964718T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000888" "" "0000019705" "0" "55" "2" "240964754" "240964754" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:28" "NDUFA10_000041" "g.240964754G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019705" "" "0000019706" "0" "55" "2" "240964805" "240964805" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:29" "NDUFA10_000042" "g.240964805T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019706" "" "0000019707" "0" "55" "2" "240964810" "240964810" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:30" "NDUFA10_000043" "g.240964810G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019707" "" "0000019708" "0" "55" "2" "240964811" "240964811" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:31" "NDUFA10_000044" "g.240964811C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019708" "" "0000025920" "0" "00" "2" "240954220" "240954221" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:19:01" "NDUFA10_000069" "g.240954220_240954221insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 71 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000887" "00000183" "99" "425" "0" "425" "0" "c.425A>G" "3/11" "p.(Gln142Arg)" "r.(?)" "probably_damaging(0.922)" "" "missense_variant" "" "" "tolerated(0.05)" "0000000888" "00000183" "99" "1" "0" "1" "0" "c.1A>G" "1/4" "p.?" "r.?" "unknown(0)" "" "initiator_codon_variant,NMD_transcript_variant" "" "" "-" "0000019641" "00000183" "00" "4625" "0" "4625" "0" "c.*3557G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019642" "00000183" "00" "4518" "0" "4518" "0" "c.*3450G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019643" "00000183" "00" "4476" "0" "4476" "0" "c.*3408T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019644" "00000183" "00" "4417" "0" "4417" "0" "c.*3349G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019645" "00000183" "00" "4273" "0" "4273" "0" "c.*3205G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019646" "00000183" "00" "4272" "0" "4272" "0" "c.*3204C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019647" "00000183" "00" "4209" "0" "4209" "0" "c.*3141C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019648" "00000183" "00" "4181" "0" "4181" "0" "c.*3113G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019649" "00000183" "00" "4166" "0" "4166" "0" "c.*3098A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019650" "00000183" "00" "4143" "0" "4143" "0" "c.*3075T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019651" "00000183" "00" "4135" "0" "4135" "0" "c.*3067C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019652" "00000183" "00" "4065" "0" "4065" "0" "c.*2997G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019653" "00000183" "00" "3753" "0" "3753" "0" "c.*2685C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019654" "00000183" "00" "3717" "0" "3717" "0" "c.*2649G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019655" "00000183" "00" "3670" "0" "3670" "0" "c.*2602C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019656" "00000183" "00" "3563" "0" "3563" "0" "c.*2495C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019657" "00000183" "00" "3465" "0" "3465" "0" "c.*2397A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019658" "00000183" "00" "3377" "0" "3377" "0" "c.*2309G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019659" "00000183" "00" "3365" "0" "3365" "0" "c.*2297T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019660" "00000183" "00" "3260" "0" "3260" "0" "c.*2192T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019661" "00000183" "00" "3217" "0" "3217" "0" "c.*2149C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019662" "00000183" "00" "3179" "0" "3179" "0" "c.*2111G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019663" "00000183" "00" "3110" "0" "3110" "0" "c.*2042A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019664" "00000183" "00" "3025" "0" "3025" "0" "c.*1957G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019665" "00000183" "00" "2991" "0" "2992" "0" "c.*1923_*1924insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019666" "00000183" "00" "2983" "0" "2983" "0" "c.*1915G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019667" "00000183" "00" "2962" "0" "2982" "0" "c.*1894_*1914delinsGGG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019668" "00000183" "00" "2952" "0" "2952" "0" "c.*1884G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019669" "00000183" "00" "2330" "0" "2330" "0" "c.*1262C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019670" "00000183" "00" "2297" "0" "2297" "0" "c.*1229C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019671" "00000183" "00" "2282" "0" "2282" "0" "c.*1214C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019672" "00000183" "00" "2280" "0" "2280" "0" "c.*1212T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019673" "00000183" "00" "2257" "0" "2257" "0" "c.*1189C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019674" "00000183" "00" "2197" "0" "2197" "0" "c.*1129G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019675" "00000183" "00" "2079" "0" "2079" "0" "c.*1011A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019676" "00000183" "00" "1993" "0" "1993" "0" "c.*925C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019677" "00000183" "00" "1808" "0" "1808" "0" "c.*740C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019678" "00000183" "00" "1715" "0" "1715" "0" "c.*647C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019679" "00000183" "00" "1699" "0" "1699" "0" "c.*631C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019680" "00000183" "00" "1614" "0" "1614" "0" "c.*546G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019681" "00000183" "00" "1557" "0" "1557" "0" "c.*489A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019682" "00000183" "00" "1506" "0" "1506" "0" "c.*438C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019683" "00000183" "00" "1482" "0" "1482" "0" "c.*414G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019684" "00000183" "00" "1480" "0" "1480" "0" "c.*412A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019685" "00000183" "00" "1475" "0" "1475" "0" "c.*407C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019686" "00000183" "00" "1457" "0" "1457" "0" "c.*389C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019687" "00000183" "00" "1429" "0" "1429" "0" "c.*361A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019688" "00000183" "00" "1376" "0" "1376" "0" "c.*308C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019689" "00000183" "00" "1173" "0" "1173" "0" "c.*105G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019690" "00000183" "00" "1000" "-3" "1000" "-3" "c.1000-3C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019691" "00000183" "00" "1000" "-5" "1000" "-5" "c.1000-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019692" "00000183" "00" "881" "0" "881" "0" "c.881T>C" "" "p.(Leu294Pro)" "r.(?)" "" "" "" "" "" "-" "0000019693" "00000183" "00" "865" "0" "865" "0" "c.865C>T" "" "p.(Arg289Cys)" "r.(?)" "" "" "" "" "" "-" "0000019694" "00000183" "00" "771" "0" "771" "0" "c.771A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019695" "00000183" "00" "749" "11" "749" "11" "c.749+11C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019696" "00000183" "00" "549" "0" "549" "0" "c.549T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019697" "00000183" "00" "548" "-9" "548" "-9" "c.548-9A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019698" "00000183" "00" "425" "0" "425" "0" "c.425A>G" "" "p.(Gln142Arg)" "r.(?)" "" "" "" "" "" "-" "0000019699" "00000183" "00" "384" "0" "385" "0" "c.384_385insAAT" "" "p.(Ser128_Tyr129insAsn)" "r.(?)" "" "" "" "" "" "-" "0000019700" "00000183" "00" "270" "0" "270" "0" "c.270G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019701" "00000183" "00" "105" "0" "105" "0" "c.105A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019702" "00000183" "00" "24" "0" "24" "0" "c.24G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019703" "00000183" "00" "5" "0" "5" "0" "c.5C>G" "" "p.(Ala2Gly)" "r.(?)" "" "" "" "" "" "-" "0000019704" "00000183" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000019705" "00000183" "00" "-36" "0" "-36" "0" "c.-36C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019706" "00000183" "00" "-87" "0" "-87" "0" "c.-87A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019707" "00000183" "00" "-92" "0" "-92" "0" "c.-92C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019708" "00000183" "00" "-93" "0" "-93" "0" "c.-93G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025920" "00000183" "00" "604" "0" "605" "0" "c.604_605insC" "" "p.(His202Profs*25)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0