### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ATP6) # 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-ATP6" "mitochondrially encoded ATP synthase 6" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7414" "4508" "516060" "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" "00001" "2018-07-03 12:38:24" "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 = 2 "{{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}}" "00001337" "MT-ATP6" "MT-ATP6-201" "000" "MT-ATP6-201" "ENST00000361899" "" "ENSP00000354632" "" "" "0" "0" "0" "8527" "9207" "00001" "2013-11-15 15:00:00" "00000" "2015-03-12 15:00:00" "Manually imported from Ensembl Biomart" "M" "00005009" "MT-ATP6" "transcript variant 1" "001" "(ATP6_v001)" "" "" "" "" "" "0" "0" "0" "0" "0" "00001" "2018-07-03 12:38:24" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "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" "" "00141" "MTATP6" "ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED" "516060" "" "" "" "00001" "2013-11-16 09:34:40" "00001" "2013-11-16 10:00:42" "" "00157" "500003" "STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL " "500003" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00168" "NARP SYNDROME" "NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME" "551500" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 16:22:35" "" "00570" "500006" "500006 CARDIOMYOPATHY, INFANTILE HYPERTROPHIC" "500006" "" "Evidence that infantile hypertrophic cardiomyopathy can be caused by mutation in the overlapping MTATP6 (516060) and MTATP8 (516070) genes.\r\n\r\n▼ Molecular Genetics\r\n\r\nIn 4 unrelated infants who presented with isolated hypertrophic cardiomyopathy and congestive heart failure and who later developed severe feeding difficulties and failure to thrive, Ware et al. (2009) identified an 8528T-C transition, resulting in concurrent changes in the overlapping MTATP6 and MTATP8 genes, M1T (516060.0010) and W55R (516070.0003), respectively. Ware et al. (2009) stated that this was the first description of a mitochondrial mutation affecting both complex V genes." "" "00001" "2018-07-08 17:27:51" "" "" "" "00571" "500010" "500010 ATAXIA AND POLYNEUROPATHY, ADULT-ONSET" "500010" "" "Evidence that adult-onset ataxia and polyneuropathy can be caused by mutation in the MTATP6 gene (516060)." "Molecular Genetics\r\n\r\nIn 4 sibs with adult-onset ataxia and polyneuropathy, Rantamaki et al. (2005) identified a heteroplasmic 8993T-C mutation in the MTATP6 gene (516060.0002).\r\n\r\nIn a mother, daughter, and granddaughter with slowly progressive adult-onset ataxia, Craig et al. (2007) identified the heteroplasmic 8993T-C mutation. The mutation was not identified in 191 additional patients with episodic ataxia, 307 patients with ataxia, or 96 patients with suspected Charcot-Marie-Tooth disease (see, e.g., CMT1A, 118220) suggesting that it is not a common finding in these phenotypic conditions." "00001" "2018-07-08 17:30:18" "" "" "" "00572" "MLASA3" "500011 MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3; MLASA3" "500011" "" "Evidence that myopathy, lactic acidosis, and sideroblastic anemia-3 (MLASA3) is caused by heteroplasmic mutation in the mitochondrial-encoded ATP6 gene (MTATP6; 516060). One such patient has been reported.\r\n\r\n▼ Description\r\n\r\nMLASA3 is a severe mitochondrial disorder with early infantile presentation of transfusion-dependent sideroblastic anemia in the setting of failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay (summary by Burrage et al., 2014).\r\n\r\nFor a general phenotypic description and a discussion of genetic heterogeneity of MLASA, see MLASA1 (600462)" "▼ Molecular Genetics\r\n\r\nUsing Sanger sequencing of the mitochondrial genome in a patient with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia, Burrage et al. (2014) detected an apparently homoplasmic novel variant in the MTATP6 gene (m.8969G-A, S148N; 516060.0012). Next-generation sequencing confirmed the presence of this variant at 96% and 88% heteroplasmy in the proband\'s blood and muscle specimens, respectively, and did not detect the variant in his mother\'s blood sample. Two other apparently homoplasmic rare variants were also detected in the proband\'s muscle and blood specimens; these variants had been reported in the mtDB, occurred at evolutionarily nonconserved positions, and were present in the proband\'s asymptomatic mother, and so were considered unlikely to be causative. Functional studies using a patient-derived skin fibroblast line showed a profound reduction in oligomycin-sensitive respiration compared to control, consistent with a defect in mitochondrial complex V function. Whole-exome sequencing of relevant nuclear genes detected no pathogenic variants" "00001" "2018-07-08 17:32:26" "" "" "" "00655" "500015" "Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1" "500015" "" "" "" "00000" "2019-06-16 12:00:01" "00001" "2019-06-17 12:36:40" "Added by batch from OMIM 2019-6-16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "MT-ATP6" "00072" "MT-ATP6" "00141" "MT-ATP6" "00157" "MT-ATP6" "00168" "MT-ATP6" "00570" "MT-ATP6" "00571" "MT-ATP6" "00572" "MT-ATP6" "00655" ## 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 = 66 "{{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}}" "0000001434" "0" "99" "M" "8528" "8528" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000051" "m.8528T>C" "" "{PMID:19188198:19188198}" "" "rs387906422" "subst" "0" "; clinVar; Mitomap; ensembl;" "5.070" "" "" "" "" "MSCV_0001434" "" "0000001435" "0" "99" "M" "8529" "8529" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000052" "m.8529G>A" "" "{PMID:17954552:17954552}" "" "rs267606881" "subst" "0" "; clinVar; Mitomap; Ensembl;" "5.070" "" "" "" "" "MSCV_0001435" "" "0000001436" "0" "77" "M" "8617" "8618" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000053" "m.8617_8618insT" "" "{PMID:19124644:19124644}" "" "rs387906423" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0001436" "" "0000001437" "0" "99" "M" "8851" "8851" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:20:01" "chrM_000054" "m.8851T>C" "" "{PMID:8554662:8554662}" "" "rs199476136" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.900" "" "" "" "" "MSCV_0001437" "" "0000001438" "0" "99" "M" "8993" "8993" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:37:53" "chrM_000055" "m.8993T>C" "" "{PMID:10660580:10660580};{PMID:2137962:2137962};{PMID:9883875:9883875};{PMID:11916326:11916326};{PMID:17663470:17663470};{PMID:8395787:8395787};{PMID:10590437:10590437};{PMID:10676807:10676807};{PMID:10889120:10889120};{PMID:11843698:11843698};{PMID:11925" "" "rs199476133" "subst" "0" "; clinvar; ensembl;" "4.900" "" "" "" "" "MSCV_0001438" "" "0000001439" "0" "99" "M" "8993" "8993" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-08 03:16:07" "chrM_000056" "m.8993T>G" "" "{PMID:10660580:10660580};{PMID:2137962:2137962};{PMID:9883875:9883875};{PMID:11916326:11916326};{PMID:17663470:17663470};{PMID:8395787:8395787};{PMID:10590437:10590437};{PMID:10676807:10676807};{PMID:10889120:10889120};{PMID:11843698:11843698};{PMID:11925" "" "rs199476133" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.900" "" "" "" "" "MSCV_0001439" "" "0000001440" "0" "99" "M" "9101" "9101" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000057" "m.9101T>C" "" "{PMID:20301353:20301353};{PMID:7726182:7726182}" "" "rs199476134" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.950" "" "" "" "" "MSCV_0001440" "" "0000001441" "0" "99" "M" "9176" "9176" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:47:01" "chrM_000058" "m.9176T>C" "" "{PMID:7668837:7668837};{PMID:9631394:9631394};{PMID:11245730:11245730};{PMID:11731285:11731285};{PMID:19454486:19454486};{PMID:9270604:9270604};{PMID:9501263:9501263}" "" "rs199476135" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.970" "" "" "" "" "MSCV_0001441" "" "0000001442" "0" "99" "M" "9176" "9176" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 11:47:01" "chrM_000059" "m.9176T>G" "" "{PMID:7668837:7668837};{PMID:9631394:9631394};{PMID:11245730:11245730};{PMID:11731285:11731285};{PMID:19454486:19454486};{PMID:9270604:9270604};{PMID:9501263:9501263}" "" "rs199476135" "subst" "0" "; clinvar; ensembl;" "4.970" "" "" "" "" "MSCV_0001442" "" "0000001443" "0" "99" "M" "9185" "9185" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-08 13:17:52" "chrM_000060" "m.9185T>C" "" "{PMID:16217706:16217706};{PMID:17352390:17352390}" "" "rs199476138" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.970" "" "" "" "" "MSCV_0001443" "" "0000001444" "0" "99" "M" "9205" "9206" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000061" "m.9205_9206del" "" "{PMID:12915481:12915481};{PMID:8739943:8739943}" "" "rs199476137" "del" "0" "; clinVar; Mitomap; Ensembl;" "" "" "" "" "" "MSCV_0001444" "" "0000004913" "0" "77" "M" "8558" "8558" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-24 13:03:08" "chrM_001200" "m.8558C>T" "" "" "" "" "subst" "0" "; Mitomap;" "3.100" "" "" "" "" "MSCV_0004913" "" "0000004914" "0" "55" "M" "8566" "8566" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-02-22 01:47:31" "chrM_001201" "m.8566A>G" "" "" "" "rs3020563" "subst" "0" ";" "-9.970" "" "" "" "" "MSCV_0004914" "" "0000004916" "0" "55" "M" "8572" "8572" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 17:01:31" "chrM_001202" "m.8572G>A" "" "" "" "rs28502681" "subst" "0" ";" "5.070" "" "" "" "" "MSCV_0004916" "" "0000004917" "0" "55" "M" "8584" "8584" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-03 04:41:05" "chrM_001203" "m.8584G>A" "" "" "" "rs3135028" "subst" "0" ";" "-0.311" "" "" "" "" "MSCV_0004917" "" "0000004918" "0" "77" "M" "8613" "8614" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2014-10-14 02:57:32" "chrM_001204" "m.8613_8614insT" "" "" "" "rs199476139" "ins" "0" "; Ensembl;" "" "" "" "" "" "MSCV_0004918" "" "0000004919" "0" "55" "M" "8616" "8616" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001205" "m.8616G>T" "" "" "" "rs41427749" "subst" "0" ";" "-7.460" "" "" "" "" "MSCV_0004919" "" "0000004921" "0" "00" "M" "8618" "8619" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001207" "m.8618_8619insTC" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0004921" "" "0000004922" "0" "99" "M" "8618" "8618" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-29 05:13:22" "chrM_001206" "m.8618T>C" "" "" "" "rs28358885" "subst" "0" "; clinVar;" "2.960" "" "" "" "" "MSCV_0004922" "" "0000004923" "0" "55" "M" "8639" "8639" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-23 06:05:10" "chrM_001208" "m.8639T>C" "" "" "" "rs200047468" "subst" "0" ";" "4.900" "" "" "" "" "MSCV_0004923" "" "0000004924" "0" "55" "M" "8647" "8647" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-08-08 15:35:17" "chrM_001209" "m.8647C>G" "" "" "" "rs1064597" "subst" "0" ";" "4.900" "" "" "" "" "MSCV_0004924" "" "0000004925" "0" "55" "M" "8648" "8648" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 10:11:51" "chrM_001210" "m.8648G>A" "" "" "" "rs28479867" "subst" "0" ";" "4.090" "" "" "" "" "MSCV_0004925" "" "0000004926" "0" "55" "M" "8654" "8654" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001211" "m.8654T>C" "" "" "" "rs200811540" "subst" "0" ";" "-3.540" "" "" "" "" "MSCV_0004926" "" "0000004927" "0" "55" "M" "8655" "8655" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-08-14 09:04:41" "chrM_001212" "m.8655C>T" "" "" "" "rs2853822" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004927" "" "0000004928" "0" "77" "M" "8668" "8668" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-25 03:30:44" "chrM_001213" "m.8668T>C" "" "" "" "" "subst" "0" "; Mitomap;" "3.920" "" "" "" "" "MSCV_0004928" "" "0000004929" "0" "55" "M" "8684" "8684" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 19:35:25" "chrM_001214" "m.8684C>T" "" "" "" "rs201336180" "subst" "0" ";" "0.393" "" "" "" "" "MSCV_0004929" "" "0000004930" "0" "55" "M" "8697" "8697" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-05-05 13:39:02" "chrM_001215" "m.8697G>A" "" "" "" "rs28358886" "subst" "0" ";" "-4.540" "" "" "" "" "MSCV_0004930" "" "0000004932" "0" "55" "M" "8701" "8701" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-05-02 15:16:54" "chrM_001334" "m.8701A>G" "" "" "" "rs2000975" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004932" "" "0000004933" "0" "77" "M" "8719" "8719" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001335" "m.8719G>A" "" "" "" "rs28624611" "subst" "0" "; Mitomap;" "4.900" "" "" "" "" "MSCV_0004933" "" "0000004934" "0" "77" "M" "8741" "8741" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 04:18:34" "chrM_001336" "m.8741T>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.900" "" "" "" "" "MSCV_0004934" "" "0000004935" "0" "55" "M" "8784" "8784" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001380" "m.8784A>G" "" "" "" "rs3094283" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004935" "" "0000004936" "0" "77" "M" "8794" "8794" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001381" "m.8794C>T" "" "" "" "rs2298007" "subst" "0" "; Mitomap;" "1.260" "" "" "" "" "MSCV_0004936" "" "0000004937" "0" "77" "M" "8795" "8795" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-04-07 18:57:45" "chrM_001382" "m.8795A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.900" "" "" "" "" "MSCV_0004937" "" "0000004938" "0" "55" "M" "8829" "8829" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-11-27 21:02:19" "chrM_001383" "m.8829C>T" "" "" "" "rs2000976" "subst" "0" ";" "-7.570" "" "" "" "" "MSCV_0004938" "" "0000004939" "0" "77" "M" "8836" "8836" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-25 03:33:02" "chrM_001384" "m.8836A>G" "" "" "" "" "subst" "0" "; Mitomap;" "3.500" "" "" "" "" "MSCV_0004939" "" "0000004941" "0" "55" "M" "8857" "8857" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-28 09:10:56" "chrM_001385" "m.8857G>A" "" "" "" "rs201017581" "subst" "0" ";" "4.090" "" "" "" "" "MSCV_0004941" "" "0000004942" "0" "55" "M" "8860" "8860" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 11:20:01" "chrM_001386" "m.8860A>G" "" "" "" "rs2001031" "subst" "0" ";" "-7.800" "" "" "" "" "MSCV_0004942" "" "0000004943" "0" "55" "M" "8869" "8869" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001387" "m.8869A>G" "" "" "" "rs41432347" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004943" "" "0000004944" "0" "55" "M" "8875" "8875" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-07-11 09:50:32" "chrM_001388" "m.8875T>C" "" "" "" "rs201123510" "subst" "0" ";" "2.900" "" "" "" "" "MSCV_0004944" "" "0000004945" "0" "55" "M" "8896" "8896" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-05-02 16:48:34" "chrM_001389" "m.8896G>A" "" "" "" "rs202120082" "subst" "0" ";" "1.700" "" "" "" "" "MSCV_0004945" "" "0000004946" "0" "55" "M" "8921" "8921" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-22 22:39:33" "chrM_001390" "m.8921G>A" "" "" "" "rs2298008" "subst" "0" ";" "4.900" "" "" "" "" "MSCV_0004946" "" "0000004947" "0" "55" "M" "8923" "8923" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001391" "m.8923A>G" "" "" "" "rs200329150" "subst" "0" ";" "4.900" "" "" "" "" "MSCV_0004947" "" "0000004948" "0" "55" "M" "8927" "8927" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001392" "m.8927C>T" "" "" "" "rs28660616" "subst" "0" ";" "4.900" "" "" "" "" "MSCV_0004948" "" "0000004949" "0" "77" "M" "8932" "8932" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 05:39:32" "chrM_001216" "m.8932C>T" "" "" "" "" "subst" "0" "; Mitomap;" "0.456" "" "" "" "" "MSCV_0004949" "" "0000004950" "0" "77" "M" "8950" "8950" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-02-22 01:22:31" "chrM_001217" "m.8950G>A" "" "" "" "" "subst" "0" "; Mitomap;" "-6.100" "" "" "" "" "MSCV_0004950" "" "0000004951" "0" "55" "M" "8975" "8975" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-08-26 18:33:13" "chrM_001218" "m.8975T>C" "" "" "" "rs1981459" "subst" "0" ";" "4.900" "" "" "" "" "MSCV_0004951" "" "0000004954" "0" "55" "M" "8994" "8994" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001219" "m.8994G>A" "" "" "" "rs28358887" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004954" "" "0000004955" "0" "77" "M" "9016" "9016" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 11:37:53" "chrM_001220" "m.9016A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.900" "" "" "" "" "MSCV_0004955" "" "0000004956" "0" "55" "M" "9025" "9025" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 11:37:53" "chrM_001221" "m.9025G>A" "" "" "" "rs28681063" "subst" "0" ";" "4.900" "" "" "" "" "MSCV_0004956" "" "0000004957" "0" "77" "M" "9035" "9035" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 20:05:41" "chrM_001222" "m.9035T>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.900" "" "" "" "" "MSCV_0004957" "" "0000004958" "0" "55" "M" "9042" "9042" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 21:13:56" "chrM_001223" "m.9042C>T" "" "" "" "rs3020605" "subst" "0" ";" "-3.080" "" "" "" "" "MSCV_0004958" "" "0000004959" "0" "55" "M" "9053" "9053" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 11:37:54" "chrM_001224" "m.9053G>A" "" "" "" "rs199646902" "subst" "0" ";" "1.860" "" "" "" "" "MSCV_0004959" "" "0000004960" "0" "77" "M" "9055" "9055" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 10:12:49" "chrM_001225" "m.9055G>A" "" "" "" "rs9645429" "subst" "0" "; Mitomap;" "3.260" "" "" "" "" "MSCV_0004960" "" "0000004961" "0" "77" "M" "9058" "9058" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 19:48:39" "chrM_001226" "m.9058A>G" "" "" "" "" "subst" "0" "; Mitomap;" "-3.230" "" "" "" "" "MSCV_0004961" "" "0000004962" "0" "55" "M" "9090" "9090" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-28 10:15:21" "chrM_001227" "m.9090T>C" "" "" "" "rs41521748" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004962" "" "0000004963" "0" "55" "M" "9093" "9093" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-08-24 05:56:27" "chrM_001228" "m.9093A>G" "" "" "" "rs41513156" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004963" "" "0000004964" "0" "77" "M" "9098" "9098" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-05 10:22:26" "chrM_001229" "m.9098T>C" "" "" "" "rs201559119" "subst" "0" "; Mitomap;" "2.900" "" "" "" "" "MSCV_0004964" "" "0000004966" "0" "55" "M" "9118" "9118" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001230" "m.9118C>G" "" "" "" "rs28520706" "subst" "0" ";" "-2.110" "" "" "" "" "MSCV_0004966" "" "0000004967" "0" "55" "M" "9120" "9120" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-09-13 02:38:52" "chrM_001231" "m.9120A>G" "" "" "" "rs2298009" "subst" "0" ";" "-7.880" "" "" "" "" "MSCV_0004967" "" "0000004968" "0" "55" "M" "9123" "9123" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001232" "m.9123G>A" "" "" "" "rs28358270" "subst" "0" ";" "-9.800" "" "" "" "" "MSCV_0004968" "" "0000004969" "0" "55" "M" "9128" "9128" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-28 09:07:08" "chrM_000976" "m.9128T>C" "" "" "" "rs199732761" "subst" "0" ";" "2.840" "" "" "" "" "MSCV_0004969" "" "0000004970" "0" "77" "M" "9139" "9139" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-07-19 18:13:01" "chrM_000977" "m.9139G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.900" "" "" "" "" "MSCV_0004970" "" "0000004971" "0" "55" "M" "9142" "9142" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000978" "m.9142G>A" "" "" "" "rs200660596" "subst" "0" ";" "4.090" "" "" "" "" "MSCV_0004971" "" "0000004973" "0" "55" "M" "9163" "9163" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-25 03:35:25" "chrM_000979" "m.9163G>A" "" "" "" "rs2298010" "subst" "0" ";" "4.970" "" "" "" "" "MSCV_0004973" "" "0000004976" "0" "55" "M" "9180" "9180" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2014-10-14 02:37:14" "chrM_000980" "m.9180A>G" "" "" "" "rs2298011" "subst" "0" ";" "-9.930" "" "" "" "" "MSCV_0004976" "" "0000004978" "0" "99" "M" "9191" "9191" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-09-09 07:47:06" "chrM_000981" "m.9191T>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.970" "" "" "" "" "MSCV_0004978" "" ## 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 = 66 "{{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}}" "0000001434" "00001337" "99" "0" "0" "0" "0" "c.2T>C" "." "p.M1T" "r.(?)" "" "" "" "" "" "-" "0000001435" "00001337" "99" "0" "0" "0" "0" "c.3G>A" "." "p.M1M" "r.(?)" "" "" "" "" "" "-" "0000001436" "00001337" "77" "0" "0" "0" "0" "c.92T>C" "." "p.I31T" "r.(?)" "" "" "" "" "" "-" "0000001437" "00001337" "99" "0" "0" "0" "0" "c.325T>C" "." "p.W109R" "r.(?)" "" "" "" "" "" "-" "0000001438" "00001337" "99" "0" "0" "0" "0" "c.467T>C" "." "p.L156P" "r.(?)" "" "" "" "" "" "-" "0000001439" "00001337" "99" "0" "0" "0" "0" "c.467T>G" "." "p.L156R" "r.(?)" "" "" "" "" "" "-" "0000001440" "00001337" "99" "0" "0" "0" "0" "c.575T>C" "." "p.I192T" "r.(?)" "" "" "" "" "" "-" "0000001441" "00001337" "99" "0" "0" "0" "0" "c.650T>C" "." "p.L217P" "r.(?)" "" "" "" "" "" "-" "0000001442" "00001337" "99" "0" "0" "0" "0" "c.650T>G" "." "p.L217R" "r.(?)" "" "" "" "" "" "-" "0000001443" "00001337" "99" "0" "0" "0" "0" "c.659T>C" "." "p.L220P" "r.(?)" "" "" "" "" "" "-" "0000001444" "00001337" "99" "0" "0" "0" "0" "c.680_680del" "." "p.*227NA" "r.(?)" "" "" "" "" "" "-" "0000004913" "00001337" "77" "0" "0" "0" "0" "c.32C>T" "." "p.A11V" "r.(?)" "" "" "" "" "" "-" "0000004914" "00001337" "55" "0" "0" "0" "0" "c.40A>G" "." "p.I14V" "r.(?)" "" "" "" "" "" "-" "0000004916" "00001337" "55" "0" "0" "0" "0" "c.46G>A" "." "p.G16S" "r.(?)" "" "" "" "" "" "-" "0000004917" "00001337" "55" "0" "0" "0" "0" "c.58G>A" "." "p.A20T" "r.(?)" "" "" "" "" "" "-" "0000004918" "00001337" "77" "0" "0" "0" "0" "c.87_88insT" "." "p.L30NA" "r.(?)" "" "" "" "" "" "-" "0000004919" "00001337" "55" "0" "0" "0" "0" "c.90G>T" "." "p.L30F" "r.(?)" "" "" "" "" "" "-" "0000004921" "00001337" "00" "0" "0" "0" "0" "c.92_93insTC" "." "p.I31NA" "r.(?)" "" "" "" "" "" "-" "0000004922" "00001337" "99" "0" "0" "0" "0" "c.92T>C" "." "p.I31T" "r.(?)" "" "" "" "" "" "-" "0000004923" "00001337" "55" "0" "0" "0" "0" "c.113T>C" "." "p.I38T" "r.(?)" "" "" "" "" "" "-" "0000004924" "00001337" "55" "0" "0" "0" "0" "c.121C>G" "." "p.R41G" "r.(?)" "" "" "" "" "" "-" "0000004925" "00001337" "55" "0" "0" "0" "0" "c.122G>A" "." "p.R41Q" "r.(?)" "" "" "" "" "" "-" "0000004926" "00001337" "55" "0" "0" "0" "0" "c.128T>C" "." "p.I43T" "r.(?)" "" "" "" "" "" "-" "0000004927" "00001337" "55" "0" "0" "0" "0" "c.129C>T" "." "p.I43I" "r.(?)" "" "" "" "" "" "-" "0000004928" "00001337" "77" "0" "0" "0" "0" "c.142T>C" "." "p.W48R" "r.(?)" "" "" "" "" "" "-" "0000004929" "00001337" "55" "0" "0" "0" "0" "c.158C>T" "." "p.T53I" "r.(?)" "" "" "" "" "" "-" "0000004930" "00001337" "55" "0" "0" "0" "0" "c.171G>A" "." "p.M57M" "r.(?)" "" "" "" "" "" "-" "0000004932" "00001337" "55" "0" "0" "0" "0" "c.175A>G" "." "p.T59A" "r.(?)" "" "" "" "" "" "-" "0000004933" "00001337" "77" "0" "0" "0" "0" "c.193G>A" "." "p.G65*" "r.(?)" "" "" "" "" "" "-" "0000004934" "00001337" "77" "0" "0" "0" "0" "c.215T>G" "." "p.L72R" "r.(?)" "" "" "" "" "" "-" "0000004935" "00001337" "55" "0" "0" "0" "0" "c.258A>G" "." "p.G86G" "r.(?)" "" "" "" "" "" "-" "0000004936" "00001337" "77" "0" "0" "0" "0" "c.268C>T" "." "p.H90T" "r.(?)" "" "" "" "" "" "-" "0000004937" "00001337" "77" "0" "0" "0" "0" "c.269A>G" "." "p.H90R" "r.(?)" "" "" "" "" "" "-" "0000004938" "00001337" "55" "0" "0" "0" "0" "c.303C>T" "." "p.N101N" "r.(?)" "" "" "" "" "" "-" "0000004939" "00001337" "77" "0" "0" "0" "0" "c.310A>G" "." "p.M104V" "r.(?)" "" "" "" "" "" "-" "0000004941" "00001337" "55" "0" "0" "0" "0" "c.331G>A" "." "p.G111S" "r.(?)" "" "" "" "" "" "-" "0000004942" "00001337" "55" "0" "0" "0" "0" "c.334A>G" "." "p.T112A" "r.(?)" "" "" "" "" "" "-" "0000004943" "00001337" "55" "0" "0" "0" "0" "c.343A>G" "." "p.M115V" "r.(?)" "" "" "" "" "" "-" "0000004944" "00001337" "55" "0" "0" "0" "0" "c.349T>C" "." "p.F117L" "r.(?)" "" "" "" "" "" "-" "0000004945" "00001337" "55" "0" "0" "0" "0" "c.370G>A" "." "p.A124T" "r.(?)" "" "" "" "" "" "-" "0000004946" "00001337" "55" "0" "0" "0" "0" "c.395G>A" "." "p.G132D" "r.(?)" "" "" "" "" "" "-" "0000004947" "00001337" "55" "0" "0" "0" "0" "c.397A>G" "." "p.T133A" "r.(?)" "" "" "" "" "" "-" "0000004948" "00001337" "55" "0" "0" "0" "0" "c.401C>T" "." "p.P134L" "r.(?)" "" "" "" "" "" "-" "0000004949" "00001337" "77" "0" "0" "0" "0" "c.406C>T" "." "p.P136S" "r.(?)" "" "" "" "" "" "-" "0000004950" "00001337" "77" "0" "0" "0" "0" "c.424G>A" "." "p.V142I" "r.(?)" "" "" "" "" "" "-" "0000004951" "00001337" "55" "0" "0" "0" "0" "c.449T>C" "." "p.L150P" "r.(?)" "" "" "" "" "" "-" "0000004954" "00001337" "55" "0" "0" "0" "0" "c.468G>A" "." "p.L156L" "r.(?)" "" "" "" "" "" "-" "0000004955" "00001337" "77" "0" "0" "0" "0" "c.490A>G" "." "p.I164V" "r.(?)" "" "" "" "" "" "-" "0000004956" "00001337" "55" "0" "0" "0" "0" "c.499G>A" "." "p.G167S" "r.(?)" "" "" "" "" "" "-" "0000004957" "00001337" "77" "0" "0" "0" "0" "c.509T>C" "." "p.L170P" "r.(?)" "" "" "" "" "" "-" "0000004958" "00001337" "55" "0" "0" "0" "0" "c.516C>T" "." "p.H172H" "r.(?)" "" "" "" "" "" "-" "0000004959" "00001337" "55" "0" "0" "0" "0" "c.527G>A" "." "p.S176N" "r.(?)" "" "" "" "" "" "-" "0000004960" "00001337" "77" "0" "0" "0" "0" "c.529G>A" "." "p.A177T" "r.(?)" "" "" "" "" "" "-" "0000004961" "00001337" "77" "0" "0" "0" "0" "c.532A>G" "." "p.T178A" "r.(?)" "" "" "" "" "" "-" "0000004962" "00001337" "55" "0" "0" "0" "0" "c.564T>C" "." "p.S188S" "r.(?)" "" "" "" "" "" "-" "0000004963" "00001337" "55" "0" "0" "0" "0" "c.567A>G" "." "p.T189T" "r.(?)" "" "" "" "" "" "-" "0000004964" "00001337" "77" "0" "0" "0" "0" "c.572T>C" "." "p.I191T" "r.(?)" "" "" "" "" "" "-" "0000004966" "00001337" "55" "0" "0" "0" "0" "c.592C>G" "." "p.L198V" "r.(?)" "" "" "" "" "" "-" "0000004967" "00001337" "55" "0" "0" "0" "0" "c.594A>G" "." "p.L198L" "r.(?)" "" "" "" "" "" "-" "0000004968" "00001337" "55" "0" "0" "0" "0" "c.597G>A" "." "p.L199L" "r.(?)" "" "" "" "" "" "-" "0000004969" "00001337" "55" "0" "0" "0" "0" "c.602T>C" "." "p.I201T" "r.(?)" "" "" "" "" "" "-" "0000004970" "00001337" "77" "0" "0" "0" "0" "c.613G>A" "." "p.A205T" "r.(?)" "" "" "" "" "" "-" "0000004971" "00001337" "55" "0" "0" "0" "0" "c.616G>A" "." "p.V206I" "r.(?)" "" "" "" "" "" "-" "0000004973" "00001337" "55" "0" "0" "0" "0" "c.637G>A" "." "p.V213I" "r.(?)" "" "" "" "" "" "-" "0000004976" "00001337" "55" "0" "0" "0" "0" "c.654A>G" "." "p.V218V" "r.(?)" "" "" "" "" "" "-" "0000004978" "00001337" "77" "0" "0" "0" "0" "c.665T>C" "." "p.L222P" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0