### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND4) # 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}}" "MT-ND4" "mitochondrially encoded NADH dehydrogenase 4" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7459" "4538" "516003" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "Y" "" "2" "Mitochondria chromosome located genes from HGNC" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "00000" "0000-00-00 00:00:00" "00000" "0000-00-00 00:00:00" "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}}" "00001343" "MT-ND4" "MT-ND4-201" "000" "MT-ND4-201" "ENST00000361381" "" "ENSP00000354961" "" "" "0" "0" "0" "10760" "12137" "00001" "2013-11-15 15:00:00" "00000" "2015-03-12 15:00:00" "Manually imported from Ensembl Biomart" "M" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00072" "LHON" "LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705" "535000" "" "" "" "00001" "2013-11-13 09:27:26" "00001" "2014-03-27 15:58:45" "" "00149" "LDYT" "LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME" "500001" "" "" "" "00001" "2013-11-16 09:52:08" "00001" "2013-11-16 09:55:01" "" "00163" "MELAS SYNDROME" "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687" "540000" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 16:07:57" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MT-ND4" "00011" "MT-ND4" "00072" "MT-ND4" "00149" "MT-ND4" "00163" ## 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 = 73 "{{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}}" "0000001463" "0" "99" "M" "11253" "11253" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-06-30 16:24:44" "chrM_000177" "m.11253T>C" "" "{PMID:20301353:20301353}" "" "rs200145866" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.470" "" "" "" "" "MSCV_0001463" "" "0000001464" "0" "99" "M" "11696" "11696" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 12:19:42" "chrM_000178" "m.11696G>A" "" "{PMID:1469456:1469456};{PMID:20301353:20301353};{PMID:8644732:8644732}" "" "rs200873900" "subst" "0" "; clinVar; Mitomap; Ensembl;" "0.489" "" "" "" "" "MSCV_0001464" "" "0000001465" "0" "99" "M" "11777" "11777" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000179" "m.11777C>A" "" "{PMID:12707444:12707444};{PMID:16120329:16120329};{PMID:15576045:15576045}" "" "rs28384199" "subst" "0" "; clinvar; ensembl;" "4.620" "" "" "" "" "MSCV_0001465" "" "0000001466" "0" "99" "M" "11777" "11777" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-07-06 20:29:06" "chrM_000180" "m.11777C>G" "" "{PMID:12707444:12707444};{PMID:16120329:16120329};{PMID:15576045:15576045}" "" "rs28384199" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.620" "" "" "" "" "MSCV_0001466" "" "0000001467" "0" "99" "M" "11778" "11778" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-05-17 10:38:56" "chrM_000181" "m.11778G>A" "" "{PMID:12560876:12560876};{PMID:16431939:16431939};{PMID:1734726:1734726};{PMID:2039048:2039048};{PMID:2346190:2346190};{PMID:2346203:2346203};{PMID:2390098:2390098};{PMID:8240101:8240101};{PMID:8457609:8457609};{PMID:8474822:8474822};{PMID:9150158:9150158" "" "rs199476112" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.620" "" "" "" "" "MSCV_0001467" "" "0000003728" "0" "55" "M" "10790" "10790" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-08-20 21:19:17" "chrM_001002" "m.10790T>C" "" "" "" "rs28488153" "subst" "0" ";" "-3.980" "" "" "" "" "MSCV_0003728" "" "0000003729" "0" "55" "M" "10810" "10810" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-22 17:00:44" "chrM_001003" "m.10810T>C" "" "" "" "rs28358282" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003729" "" "0000003730" "0" "55" "M" "10819" "10819" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:46:37" "chrM_001004" "m.10819A>G" "" "" "" "rs28358283" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003730" "" "0000003731" "0" "55" "M" "10873" "10873" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:46:38" "chrM_001005" "m.10873T>C" "" "" "" "rs2857284" "subst" "0" ";" "-2.160" "" "" "" "" "MSCV_0003731" "" "0000003732" "0" "55" "M" "10882" "10882" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 14:10:52" "chrM_001006" "m.10882T>C" "" "" "" "rs28589650" "subst" "0" ";" "-10.100" "" "" "" "" "MSCV_0003732" "" "0000003733" "0" "55" "M" "10915" "10915" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:46:38" "chrM_001007" "m.10915T>C" "" "" "" "rs2857285" "subst" "0" ";" "-9.760" "" "" "" "" "MSCV_0003733" "" "0000003736" "0" "55" "M" "10984" "10984" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:46:38" "chrM_001008" "m.10984C>G" "" "" "" "rs2857286" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0003736" "" "0000003737" "0" "55" "M" "11017" "11017" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:46:38" "chrM_001009" "m.11017T>C" "" "" "" "rs28594904" "subst" "0" ";" "-4.530" "" "" "" "" "MSCV_0003737" "" "0000003738" "0" "55" "M" "11025" "11025" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 15:46:38" "chrM_001010" "m.11025T>C" "" "" "" "rs201300253" "subst" "0" ";" "-9.490" "" "" "" "" "MSCV_0003738" "" "0000003740" "0" "99" "M" "11084" "11084" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000585" "m.11084A>G" "" "{PMID:8644732:8644732};{PMID:1323207:1323207};{PMID:3395302:3395302};{PMID:1469456:1469456};{PMID:8213827:8213827};{PMID:20301353:20301353}" "" "rs199476113" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.320" "" "" "" "" "MSCV_0003740" "" "0000003741" "0" "55" "M" "11087" "11087" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000586" "m.11087T>C" "" "" "" "rs28433448" "subst" "0" ";" "4.750" "" "" "" "" "MSCV_0003741" "" "0000003742" "0" "55" "M" "11146" "11146" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-30 19:38:27" "chrM_000587" "m.11146C>T" "" "" "" "rs3134800" "subst" "0" ";" "-9.630" "" "" "" "" "MSCV_0003742" "" "0000003744" "0" "55" "M" "11172" "11172" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:26" "chrM_000588" "m.11172A>G" "" "" "" "rs2853489" "subst" "0" ";" "1.960" "" "" "" "" "MSCV_0003744" "" "0000003745" "0" "55" "M" "11176" "11176" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000589" "m.11176G>A" "" "" "" "rs2853490" "subst" "0" ";" "1.950" "" "" "" "" "MSCV_0003745" "" "0000003746" "0" "55" "M" "11177" "11177" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:26" "chrM_000590" "m.11177C>T" "" "" "" "rs28358284" "subst" "0" ";" "-8.800" "" "" "" "" "MSCV_0003746" "" "0000003747" "0" "55" "M" "11186" "11186" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:26" "chrM_000591" "m.11186C>T" "" "" "" "rs28617734" "subst" "0" ";" "-5.160" "" "" "" "" "MSCV_0003747" "" "0000003748" "0" "55" "M" "11197" "11197" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000592" "m.11197C>T" "" "" "" "rs75214962" "subst" "0" ";" "-9.630" "" "" "" "" "MSCV_0003748" "" "0000003750" "0" "55" "M" "11204" "11204" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 13:58:53" "chrM_000593" "m.11204T>C" "" "" "" "rs201803443" "subst" "0" ";" "4.810" "" "" "" "" "MSCV_0003750" "" "0000003751" "0" "55" "M" "11206" "11206" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-18 09:45:39" "chrM_000594" "m.11206C>A" "" "" "" "rs28756874" "subst" "0" ";" "-4.290" "" "" "" "" "MSCV_0003751" "" "0000003752" "0" "55" "M" "11231" "11231" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:26" "chrM_000595" "m.11231C>T" "" "" "" "rs28592011" "subst" "0" ";" "-0.887" "" "" "" "" "MSCV_0003752" "" "0000003753" "0" "77" "M" "11232" "11232" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-13 10:53:25" "chrM_000596" "m.11232T>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.810" "" "" "" "" "MSCV_0003753" "" "0000003754" "0" "55" "M" "11237" "11237" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-08-27 10:14:35" "chrM_000597" "m.11237C>A" "" "" "" "rs28546714" "subst" "0" ";" "1.760" "" "" "" "" "MSCV_0003754" "" "0000003755" "0" "55" "M" "11251" "11251" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 13:59:46" "chrM_000598" "m.11251A>G" "" "" "" "rs3915952" "subst" "0" ";" "-9.080" "" "" "" "" "MSCV_0003755" "" "0000003757" "0" "55" "M" "11299" "11299" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-08-06 08:59:52" "chrM_000599" "m.11299T>C" "" "" "" "rs28358285" "subst" "0" ";" "-7.770" "" "" "" "" "MSCV_0003757" "" "0000003758" "0" "55" "M" "11332" "11332" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000600" "m.11332C>T" "" "" "" "rs55714831" "subst" "0" ";" "-9.430" "" "" "" "" "MSCV_0003758" "" "0000003759" "0" "55" "M" "11335" "11335" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000601" "m.11335C>T" "" "" "" "rs2853491" "subst" "0" ";" "-6.570" "" "" "" "" "MSCV_0003759" "" "0000003760" "0" "55" "M" "11339" "11339" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 14:11:49" "chrM_000602" "m.11339T>C" "" "" "" "rs55944643" "subst" "0" ";" "-9.430" "" "" "" "" "MSCV_0003760" "" "0000003761" "0" "77" "M" "11365" "11365" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-13 17:35:52" "chrM_000603" "m.11365T>C" "" "" "" "rs28609979" "subst" "0" "; Mitomap;" "-9.430" "" "" "" "" "MSCV_0003761" "" "0000003762" "0" "55" "M" "11377" "11377" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:26" "chrM_000604" "m.11377G>A" "" "" "" "rs200836005" "subst" "0" ";" "3.410" "" "" "" "" "MSCV_0003762" "" "0000003763" "0" "55" "M" "11447" "11447" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-14 02:43:39" "chrM_000605" "m.11447G>A" "" "" "" "rs2853492" "subst" "0" ";" "2.180" "" "" "" "" "MSCV_0003763" "" "0000003764" "0" "77" "M" "11467" "11467" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-07-31 00:54:33" "chrM_000606" "m.11467A>G" "" "" "" "rs2853493" "subst" "0" "; Mitomap;" "-7.590" "" "" "" "" "MSCV_0003764" "" "0000003765" "0" "55" "M" "11474" "11474" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000607" "m.11474G>A" "" "" "" "rs28371977" "subst" "0" ";" "4.780" "" "" "" "" "MSCV_0003765" "" "0000003766" "0" "55" "M" "11479" "11479" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-16 18:16:40" "chrM_000608" "m.11479C>A" "" "" "" "rs28524151" "subst" "0" ";" "-10.200" "" "" "" "" "MSCV_0003766" "" "0000003767" "0" "55" "M" "11485" "11485" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:26" "chrM_001011" "m.11485T>C" "" "" "" "rs28529320" "subst" "0" ";" "-10.200" "" "" "" "" "MSCV_0003767" "" "0000003769" "0" "55" "M" "11547" "11547" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:26" "chrM_001012" "m.11547T>G" "" "" "" "rs28588421" "subst" "0" ";" "3.950" "" "" "" "" "MSCV_0003769" "" "0000003770" "0" "55" "M" "11603" "11603" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001013" "m.11603C>A" "" "" "" "rs28669780" "subst" "0" ";" "-3.960" "" "" "" "" "MSCV_0003770" "" "0000003771" "0" "00" "M" "11622" "11623" "del" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-14 02:40:25" "chrM_001014" "m.11622_11623del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0003771" "" "0000003772" "0" "55" "M" "11641" "11641" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-06-02 20:56:17" "chrM_001015" "m.11641A>G" "" "" "" "rs2853494" "subst" "0" ";" "-0.875" "" "" "" "" "MSCV_0003772" "" "0000003773" "0" "55" "M" "11663" "11663" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-08-10 13:44:35" "chrM_001016" "m.11663C>T" "" "" "" "rs28588274" "subst" "0" ";" "-6.470" "" "" "" "" "MSCV_0003773" "" "0000003774" "0" "55" "M" "11665" "11665" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-09 03:47:46" "chrM_001017" "m.11665C>G" "" "" "" "rs28631764" "subst" "0" ";" "-9.840" "" "" "" "" "MSCV_0003774" "" "0000003775" "0" "55" "M" "11674" "11674" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:27" "chrM_001345" "m.11674C>T" "" "" "" "rs28358286" "subst" "0" ";" "-9.840" "" "" "" "" "MSCV_0003775" "" "0000003778" "0" "55" "M" "11719" "11719" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-14 03:13:59" "chrM_001346" "m.11719G>A" "" "" "" "rs2853495" "subst" "0" ";" "-9.240" "" "" "" "" "MSCV_0003778" "" "0000003779" "0" "55" "M" "11722" "11722" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001347" "m.11722T>C" "" "" "" "rs28471078" "subst" "0" ";" "-9.240" "" "" "" "" "MSCV_0003779" "" "0000003780" "0" "55" "M" "11758" "11758" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001348" "m.11758C>G" "" "" "" "rs28735834" "subst" "0" ";" "-8.960" "" "" "" "" "MSCV_0003780" "" "0000003781" "0" "55" "M" "11776" "11776" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-09 03:32:31" "chrM_001349" "m.11776T>G" "" "" "" "rs28396842" "subst" "0" ";" "0.294" "" "" "" "" "MSCV_0003781" "" "0000003786" "0" "55" "M" "11812" "11812" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-06-15 06:21:25" "chrM_001350" "m.11812A>G" "" "" "" "rs3088053" "subst" "0" ";" "-9.240" "" "" "" "" "MSCV_0003786" "" "0000003787" "0" "55" "M" "11819" "11819" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-12-23 00:49:24" "chrM_001351" "m.11819C>G" "" "" "" "rs28439211" "subst" "0" ";" "-3.080" "" "" "" "" "MSCV_0003787" "" "0000003788" "0" "77" "M" "11832" "11832" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 13:30:10" "chrM_001261" "m.11832G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.620" "" "" "" "" "MSCV_0003788" "" "0000003789" "0" "55" "M" "11840" "11840" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-07-11 18:30:56" "chrM_000764" "m.11840C>T" "" "" "" "rs28550734" "subst" "0" ";" "-9.240" "" "" "" "" "MSCV_0003789" "" "0000003790" "0" "55" "M" "11843" "11843" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:19:42" "chrM_000765" "m.11843G>A" "" "" "" "rs28713729" "subst" "0" ";" "2.900" "" "" "" "" "MSCV_0003790" "" "0000003791" "0" "77" "M" "11874" "11874" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:19:42" "chrM_000766" "m.11874C>A" "" "" "" "" "subst" "0" "; Mitomap;" "2.570" "" "" "" "" "MSCV_0003791" "" "0000003793" "0" "55" "M" "11899" "11899" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:19:42" "chrM_000767" "m.11899T>C" "" "" "" "rs28718242" "subst" "0" ";" "-9.240" "" "" "" "" "MSCV_0003793" "" "0000003795" "0" "55" "M" "11914" "11914" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:19:42" "chrM_000768" "m.11914G>A" "" "" "" "rs2853496" "subst" "0" ";" "-5.240" "" "" "" "" "MSCV_0003795" "" "0000003796" "0" "77" "M" "11919" "11919" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-07 22:24:20" "chrM_000769" "m.11919C>T" "" "" "" "" "subst" "0" "; Mitomap;" "3.650" "" "" "" "" "MSCV_0003796" "" "0000003797" "0" "55" "M" "11929" "11929" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:46:57" "chrM_000770" "m.11929T>G" "" "" "" "rs28722520" "subst" "0" ";" "-9.240" "" "" "" "" "MSCV_0003797" "" "0000003801" "0" "55" "M" "11944" "11944" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-13 10:53:42" "chrM_000771" "m.11944T>C" "" "" "" "rs3087901" "subst" "0" ";" "-9.240" "" "" "" "" "MSCV_0003801" "" "0000003802" "0" "55" "M" "11947" "11947" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-17 09:29:47" "chrM_000772" "m.11947A>G" "" "" "" "rs28359168" "subst" "0" ";" "-4.390" "" "" "" "" "MSCV_0003802" "" "0000003804" "0" "55" "M" "11956" "11956" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-08 15:07:58" "chrM_000773" "m.11956C>T" "" "" "" "rs3087900" "subst" "0" ";" "-6.570" "" "" "" "" "MSCV_0003804" "" "0000003805" "0" "55" "M" "11963" "11963" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:19:42" "chrM_000774" "m.11963G>A" "" "" "" "rs201803948" "subst" "0" ";" "4.620" "" "" "" "" "MSCV_0003805" "" "0000003806" "0" "55" "M" "11969" "11969" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-09-29 21:52:31" "chrM_000775" "m.11969G>A" "" "" "" "rs28359169" "subst" "0" ";" "2.960" "" "" "" "" "MSCV_0003806" "" "0000003807" "0" "99" "M" "11984" "11984" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000776" "m.11984T>C" "" "{PMID:17022785:17022785}" "" "rs200911567" "subst" "0" ";" "1.420" "" "" "" "" "MSCV_0003807" "" "0000003808" "0" "77" "M" "11994" "11994" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-05-14 03:05:16" "chrM_000777" "m.11994C>T" "" "" "" "" "subst" "0" "; Mitomap;" "0.074" "" "" "" "" "MSCV_0003808" "" "0000003809" "0" "55" "M" "12007" "12007" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 13:29:53" "chrM_000778" "m.12007G>A" "" "" "" "rs2853497" "subst" "0" ";" "-6.560" "" "" "" "" "MSCV_0003809" "" "0000003810" "0" "77" "M" "12026" "12026" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-08-26 11:52:06" "chrM_000779" "m.12026A>G" "" "" "" "rs202136725" "subst" "0" "; Mitomap;" "-0.705" "" "" "" "" "MSCV_0003810" "" "0000003811" "0" "77" "M" "12027" "12027" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:27" "chrM_000780" "m.12027T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-6.040" "" "" "" "" "MSCV_0003811" "" "0000003812" "0" "55" "M" "12053" "12053" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 13:29:16" "chrM_000781" "m.12053C>T" "" "" "" "rs28639786" "subst" "0" ";" "4.710" "" "" "" "" "MSCV_0003812" "" "0000003813" "0" "55" "M" "12091" "12091" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-06-11 18:26:07" "chrM_000782" "m.12091T>C" "" "" "" "rs28415973" "subst" "0" ";" "-9.430" "" "" "" "" "MSCV_0003813" "" "0000003815" "0" "55" "M" "12112" "12112" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 16:46:27" "chrM_000783" "m.12112C>G" "" "" "" "rs28695839" "subst" "0" ";" "-9.430" "" "" "" "" "MSCV_0003815" "" ## 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 = 73 "{{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}}" "0000001463" "00001343" "99" "0" "0" "0" "0" "c.494T>C" "." "p.I165T" "r.(?)" "" "" "" "" "" "-" "0000001464" "00001343" "99" "0" "0" "0" "0" "c.937G>A" "." "p.V313I" "r.(?)" "" "" "" "" "" "-" "0000001465" "00001343" "99" "0" "0" "0" "0" "c.1018C>A" "." "p.R340S" "r.(?)" "" "" "" "" "" "-" "0000001466" "00001343" "99" "0" "0" "0" "0" "c.1018C>G" "." "p.R340G" "r.(?)" "" "" "" "" "" "-" "0000001467" "00001343" "99" "0" "0" "0" "0" "c.1019G>A" "." "p.R340H" "r.(?)" "" "" "" "" "" "-" "0000003728" "00001343" "55" "0" "0" "0" "0" "c.31T>C" "." "p.L11L" "r.(?)" "" "" "" "" "" "-" "0000003729" "00001343" "55" "0" "0" "0" "0" "c.51T>C" "." "p.L17L" "r.(?)" "" "" "" "" "" "-" "0000003730" "00001343" "55" "0" "0" "0" "0" "c.60A>G" "." "p.K20K" "r.(?)" "" "" "" "" "" "-" "0000003731" "00001343" "55" "0" "0" "0" "0" "c.114T>C" "." "p.P38P" "r.(?)" "" "" "" "" "" "-" "0000003732" "00001343" "55" "0" "0" "0" "0" "c.123T>C" "." "p.F41F" "r.(?)" "" "" "" "" "" "-" "0000003733" "00001343" "55" "0" "0" "0" "0" "c.156T>C" "." "p.C52C" "r.(?)" "" "" "" "" "" "-" "0000003736" "00001343" "55" "0" "0" "0" "0" "c.225C>G" "." "p.L75L" "r.(?)" "" "" "" "" "" "-" "0000003737" "00001343" "55" "0" "0" "0" "0" "c.258T>C" "." "p.S86S" "r.(?)" "" "" "" "" "" "-" "0000003738" "00001343" "55" "0" "0" "0" "0" "c.266T>C" "." "p.L89P" "r.(?)" "" "" "" "" "" "-" "0000003740" "00001343" "99" "0" "0" "0" "0" "c.325A>G" "." "p.T109A" "r.(?)" "" "" "" "" "" "-" "0000003741" "00001343" "55" "0" "0" "0" "0" "c.328T>C" "." "p.F110L" "r.(?)" "" "" "" "" "" "-" "0000003742" "00001343" "55" "0" "0" "0" "0" "c.387C>T" "." "p.T129T" "r.(?)" "" "" "" "" "" "-" "0000003744" "00001343" "55" "0" "0" "0" "0" "c.413A>G" "." "p.N138S" "r.(?)" "" "" "" "" "" "-" "0000003745" "00001343" "55" "0" "0" "0" "0" "c.417G>A" "." "p.Q139Q" "r.(?)" "" "" "" "" "" "-" "0000003746" "00001343" "55" "0" "0" "0" "0" "c.418C>T" "." "p.P140S" "r.(?)" "" "" "" "" "" "-" "0000003747" "00001343" "55" "0" "0" "0" "0" "c.427C>T" "." "p.L143L" "r.(?)" "" "" "" "" "" "-" "0000003748" "00001343" "55" "0" "0" "0" "0" "c.438C>T" "." "p.G146G" "r.(?)" "" "" "" "" "" "-" "0000003750" "00001343" "55" "0" "0" "0" "0" "c.445T>C" "." "p.F149L" "r.(?)" "" "" "" "" "" "-" "0000003751" "00001343" "55" "0" "0" "0" "0" "c.447C>A" "." "p.F149L" "r.(?)" "" "" "" "" "" "-" "0000003752" "00001343" "55" "0" "0" "0" "0" "c.472C>T" "." "p.L158F" "r.(?)" "" "" "" "" "" "-" "0000003753" "00001343" "77" "0" "0" "0" "0" "c.473T>C" "." "p.L158P" "r.(?)" "" "" "" "" "" "-" "0000003754" "00001343" "55" "0" "0" "0" "0" "c.478C>A" "." "p.L160M" "r.(?)" "" "" "" "" "" "-" "0000003755" "00001343" "55" "0" "0" "0" "0" "c.492A>G" "." "p.L164L" "r.(?)" "" "" "" "" "" "-" "0000003757" "00001343" "55" "0" "0" "0" "0" "c.540T>C" "." "p.T180T" "r.(?)" "" "" "" "" "" "-" "0000003758" "00001343" "55" "0" "0" "0" "0" "c.573C>T" "." "p.A191A" "r.(?)" "" "" "" "" "" "-" "0000003759" "00001343" "55" "0" "0" "0" "0" "c.576C>T" "." "p.N192N" "r.(?)" "" "" "" "" "" "-" "0000003760" "00001343" "55" "0" "0" "0" "0" "c.580T>C" "." "p.L194L" "r.(?)" "" "" "" "" "" "-" "0000003761" "00001343" "77" "0" "0" "0" "0" "c.606T>C" "." "p.A202A" "r.(?)" "" "" "" "" "" "-" "0000003762" "00001343" "55" "0" "0" "0" "0" "c.618G>A" "." "p.K206K" "r.(?)" "" "" "" "" "" "-" "0000003763" "00001343" "55" "0" "0" "0" "0" "c.688G>A" "." "p.V230M" "r.(?)" "" "" "" "" "" "-" "0000003764" "00001343" "77" "0" "0" "0" "0" "c.708A>G" "." "p.L236L" "r.(?)" "" "" "" "" "" "-" "0000003765" "00001343" "55" "0" "0" "0" "0" "c.715G>A" "." "p.G239S" "r.(?)" "" "" "" "" "" "-" "0000003766" "00001343" "55" "0" "0" "0" "0" "c.720C>A" "." "p.G240G" "r.(?)" "" "" "" "" "" "-" "0000003767" "00001343" "55" "0" "0" "0" "0" "c.726T>C" "." "p.G242G" "r.(?)" "" "" "" "" "" "-" "0000003769" "00001343" "55" "0" "0" "0" "0" "c.788T>G" "." "p.V263G" "r.(?)" "" "" "" "" "" "-" "0000003770" "00001343" "55" "0" "0" "0" "0" "c.844C>A" "." "p.L282M" "r.(?)" "" "" "" "" "" "-" "0000003771" "00001343" "00" "0" "0" "0" "0" "c.864_864del" "." "p.T288NA" "r.(?)" "" "" "" "" "" "-" "0000003772" "00001343" "55" "0" "0" "0" "0" "c.882A>G" "." "p.M294M" "r.(?)" "" "" "" "" "" "-" "0000003773" "00001343" "55" "0" "0" "0" "0" "c.904C>T" "." "p.L302F" "r.(?)" "" "" "" "" "" "-" "0000003774" "00001343" "55" "0" "0" "0" "0" "c.906C>G" "." "p.L302L" "r.(?)" "" "" "" "" "" "-" "0000003775" "00001343" "55" "0" "0" "0" "0" "c.915C>T" "." "p.T305T" "r.(?)" "" "" "" "" "" "-" "0000003778" "00001343" "55" "0" "0" "0" "0" "c.960G>A" "." "p.G320G" "r.(?)" "" "" "" "" "" "-" "0000003779" "00001343" "55" "0" "0" "0" "0" "c.963T>C" "." "p.L321L" "r.(?)" "" "" "" "" "" "-" "0000003780" "00001343" "55" "0" "0" "0" "0" "c.999C>G" "." "p.N333K" "r.(?)" "" "" "" "" "" "-" "0000003781" "00001343" "55" "0" "0" "0" "0" "c.1017T>G" "." "p.S339*" "r.(?)" "" "" "" "" "" "-" "0000003786" "00001343" "55" "0" "0" "0" "0" "c.1053A>G" "." "p.L351L" "r.(?)" "" "" "" "" "" "-" "0000003787" "00001343" "55" "0" "0" "0" "0" "c.1060C>G" "." "p.L354V" "r.(?)" "" "" "" "" "" "-" "0000003788" "00001343" "77" "0" "0" "0" "0" "c.1073G>A" "." "p.W358*" "r.(?)" "" "" "" "" "" "-" "0000003789" "00001343" "55" "0" "0" "0" "0" "c.1081C>T" "." "p.L361L" "r.(?)" "" "" "" "" "" "-" "0000003790" "00001343" "55" "0" "0" "0" "0" "c.1084G>A" "." "p.A362T" "r.(?)" "" "" "" "" "" "-" "0000003791" "00001343" "77" "0" "0" "0" "0" "c.1115C>A" "." "p.T372N" "r.(?)" "" "" "" "" "" "-" "0000003793" "00001343" "55" "0" "0" "0" "0" "c.1140T>C" "." "p.S380S" "r.(?)" "" "" "" "" "" "-" "0000003795" "00001343" "55" "0" "0" "0" "0" "c.1155G>A" "." "p.T385T" "r.(?)" "" "" "" "" "" "-" "0000003796" "00001343" "77" "0" "0" "0" "0" "c.1160C>T" "." "p.S387F" "r.(?)" "" "" "" "" "" "-" "0000003797" "00001343" "55" "0" "0" "0" "0" "c.1170T>G" "." "p.N390K" "r.(?)" "" "" "" "" "" "-" "0000003801" "00001343" "55" "0" "0" "0" "0" "c.1185T>C" "." "p.L395L" "r.(?)" "" "" "" "" "" "-" "0000003802" "00001343" "55" "0" "0" "0" "0" "c.1188A>G" "." "p.T396T" "r.(?)" "" "" "" "" "" "-" "0000003804" "00001343" "55" "0" "0" "0" "0" "c.1197C>T" "." "p.N399N" "r.(?)" "" "" "" "" "" "-" "0000003805" "00001343" "55" "0" "0" "0" "0" "c.1204G>A" "." "p.V402I" "r.(?)" "" "" "" "" "" "-" "0000003806" "00001343" "55" "0" "0" "0" "0" "c.1210G>A" "." "p.A404T" "r.(?)" "" "" "" "" "" "-" "0000003807" "00001343" "55" "0" "0" "0" "0" "c.1225T>C" "." "p.T409H" "r.(?)" "" "" "" "" "" "-" "0000003808" "00001343" "77" "0" "0" "0" "0" "c.1235C>T" "." "p.T412I" "r.(?)" "" "" "" "" "" "-" "0000003809" "00001343" "55" "0" "0" "0" "0" "c.1248G>A" "." "p.W416W" "r.(?)" "" "" "" "" "" "-" "0000003810" "00001343" "77" "0" "0" "0" "0" "c.1267A>G" "." "p.I423V" "r.(?)" "" "" "" "" "" "-" "0000003811" "00001343" "77" "0" "0" "0" "0" "c.1268T>C" "." "p.I423T" "r.(?)" "" "" "" "" "" "-" "0000003812" "00001343" "55" "0" "0" "0" "0" "c.1294C>T" "." "p.R432W" "r.(?)" "" "" "" "" "" "-" "0000003813" "00001343" "55" "0" "0" "0" "0" "c.1332T>C" "." "p.I444I" "r.(?)" "" "" "" "" "" "-" "0000003815" "00001343" "55" "0" "0" "0" "0" "c.1353C>G" "." "p.P451P" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0