### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SCO2) # 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}}" "SCO2" "SCO2 cytochrome c oxidase assembly protein" "22" "q13.33" "unknown" "NC_000022.10" "UD_132084537857" "" "" "" "1" "1" "10604" "9997" "604272" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org " "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 = 4 "{{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}}" "00000290" "SCO2" "SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 2" "001" "NM_001169109.1" "" "NP_001162580.1" "" "" "" "-207" "844" "801" "50964868" "50961997" "00001" "2013-11-07 13:59:12" "" "" "" "22" "00000291" "SCO2" "SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 3" "002" "NM_001169110.1" "" "NP_001162581.1" "" "" "" "-158" "844" "801" "50964574" "50961997" "00001" "2013-11-07 13:59:12" "" "" "" "22" "00000292" "SCO2" "SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 1" "003" "NM_005138.2" "" "NP_005129.2" "" "" "" "-147" "844" "801" "50964034" "50961997" "00001" "2013-11-07 13:59:12" "" "" "" "22" "00000293" "SCO2" "SCO cytochrome oxidase deficient homolog 2 (yeast), transcript variant 4" "004" "NM_001169111.1" "" "NP_001162582.1" "" "" "" "-176" "844" "801" "50964033" "50961997" "00001" "2013-11-07 13:59:12" "" "" "" "22" ## 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}}" "00482" "CEMCOX1" "CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1" "604377" "" "" "" "00001" "2014-04-11 10:58:08" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SCO2" "00482" ## 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 = 90 "{{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}}" "0000000920" "0" "99" "22" "50962167" "50962167" "subst" "6" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:07" "SCO2_000001" "g.50962167G>A" "" "{PMID:10545952:10545952}" "" "rs80358232" "subst" "0" "; clinvar;" "4.970" "" "" "" "" "MSCV_0000920" "" "0000000921" "0" "99" "22" "50962330" "50962330" "subst" "6" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:08" "SCO2_000002" "g.50962330G>A" "" "{PMID:10749987:10749987}" "" "rs28937598" "subst" "0" "; clinvar;" "4.860" "" "" "" "" "MSCV_0000921" "" "0000000922" "0" "99" "22" "50962423" "50962423" "subst" "6" "0.000230663" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:09" "SCO2_000003" "g.50962423C>T" "" "{PMID:23643385:23643385};{PMID:12020273:12020273};{PMID:16326995:16326995};{PMID:14970747:14970747};{PMID:10545952:10545952};{PMID:11673586:11673586}" "" "rs74315511" "subst" "0" "; clinvar;" "3.840" "" "" "" "" "MSCV_0000922" "" "0000000923" "0" "99" "22" "50962443" "50962443" "subst" "6" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:10" "SCO2_000004" "g.50962443C>T" "" "{PMID:14994243:14994243}" "" "rs28937868" "subst" "0" "; clinvar;" "4.860" "" "" "" "" "MSCV_0000923" "" "0000000924" "0" "99" "22" "50962573" "50962573" "subst" "6" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:11" "SCO2_000005" "g.50962573G>A" "" "{PMID:10749987:10749987}" "" "rs74315512" "subst" "0" "; clinvar;" "2.270" "" "" "" "" "MSCV_0000924" "" "0000000925" "0" "99" "22" "50962684" "50962684" "subst" "6" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:52:12" "SCO2_000006" "g.50962684G>A" "" "{PMID:23643385:23643385};{PMID:10545952:10545952}" "" "rs74315510" "subst" "0" "; clinvar;" "4.020" "" "" "" "" "MSCV_0000925" "" "0000000926" "0" "99" "22" "50962734" "50962734" "subst" "6" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-10-15 18:43:04" "SCO2_000007" "g.50962734C>T" "" "{PMID:18924171:18924171}" "" "rs121908508" "subst" "0" "; clinvar;" "-0.972" "" "" "" "" "MSCV_0000926" "" "0000005210" "0" "99" "22" "50962167" "50962167" "subst" "51" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2021-06-02 19:55:54" "SCO2_000001" "g.50962167G>A" "" "{PMID:10545952:10545952}" "" "rs80358232" "subst" "0" "; ensembl;" "4.970" "" "" "" "" "MSCV_0005210" "" "0000005211" "0" "99" "22" "50962330" "50962330" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-02-28 09:36:56" "SCO2_000002" "g.50962330G>A" "" "{PMID:10749987:10749987}" "" "rs28937598" "subst" "0" "; ensembl;" "4.860" "" "" "" "" "MSCV_0005211" "" "0000005212" "0" "99" "22" "50962423" "50962423" "subst" "35" "0.000230663" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-06-17 09:17:30" "SCO2_000003" "g.50962423C>T" "" "{PMID:23643385:23643385};{PMID:12020273:12020273};{PMID:16326995:16326995};{PMID:14970747:14970747};{PMID:10545952:10545952};{PMID:11673586:11673586}" "" "rs74315511" "subst" "0" "; ensembl;" "3.840" "" "" "" "" "MSCV_0005212" "" "0000005213" "0" "99" "22" "50962443" "50962443" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-09-05 15:08:06" "SCO2_000004" "g.50962443C>T" "" "{PMID:14994243:14994243}" "" "rs28937868" "subst" "0" "; ensembl;" "4.860" "" "" "" "" "MSCV_0005213" "" "0000005214" "0" "99" "22" "50962573" "50962573" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-02-28 09:34:33" "SCO2_000005" "g.50962573G>A" "" "{PMID:10749987:10749987}" "" "rs74315512" "subst" "0" "; ensembl;" "2.270" "" "" "" "" "MSCV_0005214" "" "0000005215" "0" "99" "22" "50962684" "50962684" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2019-02-28 08:55:29" "SCO2_000006" "g.50962684G>A" "" "{PMID:23643385:23643385};{PMID:10545952:10545952}" "" "rs74315510" "subst" "0" "; ensembl;" "4.020" "" "" "" "" "MSCV_0005215" "" "0000005216" "0" "99" "22" "50962734" "50962734" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2020-04-06 13:14:32" "SCO2_000007" "g.50962734C>T" "" "{PMID:18924171:18924171}" "" "rs121908508" "subst" "0" "; ensembl;" "-0.972" "" "" "" "" "MSCV_0005216" "" "0000020118" "0" "33" "22" "50962065" "50962065" "subst" "35" "0.00876519" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:38:15" "NCAPH2_000014" "g.50962065G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020118" "" "0000020119" "0" "77" "22" "50962078" "50962078" "subst" "35" "0.00861141" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:58:48" "NCAPH2_000002" "g.50962078G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020119" "" "0000020120" "0" "55" "22" "50962103" "50962103" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:15:19" "NCAPH2_000003" "g.50962103C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020120" "" "0000020121" "0" "99" "22" "50962167" "50962167" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:06" "SCO2_000001" "g.50962167G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000920" "" "0000020122" "0" "11" "22" "50962208" "50962208" "subst" "35" "0.635091" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-11 20:51:36" "NCAPH2_000004" "g.50962208T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020122" "" "0000020123" "0" "33" "22" "50962259" "50962259" "subst" "35" "0.051976" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:37" "NCAPH2_000005" "g.50962259G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020123" "" "0000020124" "0" "99" "22" "50962330" "50962330" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-12 09:39:07" "SCO2_000002" "g.50962330G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000921" "" "0000020125" "0" "99" "22" "50962423" "50962423" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:56:39" "SCO2_000003" "g.50962423C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000922" "" "0000020126" "0" "99" "22" "50962443" "50962443" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:56:44" "SCO2_000004" "g.50962443C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000923" "" "0000020127" "0" "33" "22" "50962514" "50962514" "subst" "35" "0.0325234" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:18:21" "NCAPH2_000006" "g.50962514G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020127" "" "0000020128" "0" "55" "22" "50962565" "50962565" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-08 03:49:14" "NCAPH2_000007" "g.50962565T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020128" "" "0000020129" "0" "99" "22" "50962573" "50962573" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:04" "SCO2_000005" "g.50962573G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000924" "" "0000020130" "0" "55" "22" "50962597" "50962597" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:47" "NCAPH2_000008" "g.50962597T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020130" "" "0000020131" "0" "77" "22" "50962604" "50962604" "subst" "51" "0.000309358" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-12 09:39:07" "NCAPH2_000009" "g.50962604C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020131" "" "0000020132" "0" "77" "22" "50962640" "50962640" "subst" "35" "0.00318323" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:42:45" "NCAPH2_000010" "g.50962640G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020132" "" "0000020133" "0" "55" "22" "50962679" "50962679" "subst" "35" "0.000310029" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:44" "NCAPH2_000011" "g.50962679G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020133" "" "0000020134" "0" "99" "22" "50962684" "50962684" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:14:51" "SCO2_000006" "g.50962684G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000925" "" "0000020135" "0" "99" "22" "50962734" "50962734" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:34:10" "SCO2_000007" "g.50962734C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000926" "" "0000020136" "0" "11" "22" "50962782" "50962782" "subst" "35" "0.630693" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:00" "NCAPH2_000012" "g.50962782C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020136" "" "0000020137" "0" "55" "22" "50962837" "50962837" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:37:19" "NCAPH2_000013" "g.50962837G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020137" "" "0000020138" "0" "11" "22" "50963905" "50963905" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:57:36" "SCO2_000033" "g.50963905C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020138" "" "0000020139" "0" "55" "22" "50963938" "50963938" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:14:44" "SCO2_000034" "g.50963938G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020139" "" "0000020140" "0" "11" "22" "50963965" "50963965" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:57:51" "SCO2_000035" "g.50963965C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020140" "" "0000020141" "0" "55" "22" "50963970" "50963970" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:42:33" "SCO2_000036" "g.50963970T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020141" "" "0000020142" "0" "55" "22" "50964001" "50964001" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:17" "SCO2_000037" "g.50964001C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020142" "" "0000020143" "0" "33" "22" "50964018" "50964019" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:00:16" "SCO2_000038" "g.50964018_50964019insGCAG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020143" "" "0000020144" "0" "55" "22" "50964029" "50964029" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:34:29" "SCO2_000039" "g.50964029C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020144" "" "0000020145" "0" "55" "22" "50964170" "50964170" "subst" "35" "0.000242287" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:17" "SCO2_000040" "g.50964170C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020145" "" "0000020146" "0" "77" "22" "50964189" "50964189" "subst" "35" "0.0000795039" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:37:03" "SCO2_000041" "g.50964189C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020146" "" "0000020147" "0" "77" "22" "50964196" "50964196" "subst" "35" "0.0000793651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:15:58" "SCO2_000042" "g.50964196G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020147" "" "0000020148" "0" "55" "22" "50964205" "50964205" "subst" "35" "0.000159515" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:02" "SCO2_000043" "g.50964205C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020148" "" "0000020149" "0" "11" "22" "50964216" "50964216" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:58:43" "SCO2_000044" "g.50964216G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020149" "" "0000020150" "0" "99" "22" "50964216" "50964217" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:17:20" "SCO2_000045" "g.50964216_50964217insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020150" "" "0000020151" "0" "11" "22" "50964236" "50964236" "subst" "35" "0.0683581" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:18:03" "SCO2_000046" "g.50964236G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020151" "" "0000020152" "0" "11" "22" "50964236" "50964236" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-08-29 12:53:17" "SCO2_000047" "g.50964236G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020152" "" "0000020153" "0" "11" "22" "50964237" "50964238" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:08" "SCO2_000048" "g.50964237_50964238insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020153" "" "0000020154" "0" "33" "22" "50964247" "50964247" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:53" "SCO2_000049" "g.50964247G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020154" "" "0000020155" "0" "33" "22" "50964248" "50964253" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 15:20:09" "SCO2_000050" "g.50964248_50964253del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020155" "" "0000020156" "0" "33" "22" "50964255" "50964255" "subst" "35" "0.0378405" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:59:08" "SCO2_000051" "g.50964255C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020156" "" "0000020157" "0" "99" "22" "50964288" "50964288" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:29" "SCO2_000052" "g.50964288C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020157" "" "0000020158" "0" "99" "22" "50964296" "50964297" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:14:59" "SCO2_000009" "g.50964296_50964297insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020158" "" "0000020159" "0" "99" "22" "50964302" "50964321" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 15:20:09" "SCO2_000010" "g.50964302_50964321del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020159" "" "0000020160" "0" "99" "22" "50964327" "50964328" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:58:40" "SCO2_000011" "g.50964327_50964328insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020160" "" "0000020161" "0" "99" "22" "50964337" "50964337" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:55:11" "SCO2_000012" "g.50964337del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020161" "" "0000020162" "0" "99" "22" "50964337" "50964337" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 15:20:09" "SCO2_000013" "g.50964337C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020162" "" "0000020163" "0" "99" "22" "50964348" "50964348" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:14:23" "SCO2_000014" "g.50964348C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020163" "" "0000020164" "0" "99" "22" "50964428" "50964428" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:56:13" "SCO2_000015" "g.50964428A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020164" "" "0000020165" "0" "99" "22" "50964429" "50964429" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:57:10" "SCO2_000016" "g.50964429C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020165" "" "0000020166" "0" "11" "22" "50964446" "50964446" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:16:23" "SCO2_000017" "g.50964446A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020166" "" "0000020167" "0" "99" "22" "50964448" "50964448" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:55:03" "SCO2_000018" "g.50964448C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020167" "" "0000020168" "0" "99" "22" "50964518" "50964519" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:57:42" "SCO2_000019" "g.50964518_50964519insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020168" "" "0000020169" "0" "99" "22" "50964532" "50964537" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-14 18:53:41" "SCO2_000008" "g.50964532_50964537del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020169" "" "0000020170" "0" "77" "22" "50964554" "50964554" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:58:36" "SCO2_000020" "g.50964554G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020170" "" "0000020171" "0" "99" "22" "50964570" "50964570" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:57:29" "SCO2_000021" "g.50964570C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020171" "" "0000020172" "0" "99" "22" "50964571" "50964571" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:04" "SCO2_000022" "g.50964571C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020172" "" "0000020173" "0" "99" "22" "50964571" "50964571" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:38:01" "SCO2_000023" "g.50964571C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020173" "" "0000020174" "0" "99" "22" "50964572" "50964572" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:35:32" "SCO2_000024" "g.50964572T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020174" "" "0000020175" "0" "99" "22" "50964572" "50964572" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:55" "SCO2_000025" "g.50964572T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020175" "" "0000020176" "0" "99" "22" "50964673" "50964673" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 15:20:09" "SCO2_000026" "g.50964673A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020176" "" "0000020177" "0" "99" "22" "50964675" "50964675" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:16:11" "SCO2_000027" "g.50964675C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020177" "" "0000020178" "0" "55" "22" "50964687" "50964687" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:34:56" "SCO2_000028" "g.50964687C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020178" "" "0000020179" "0" "55" "22" "50964697" "50964697" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:58:00" "SCO2_000029" "g.50964697C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020179" "" "0000020180" "0" "99" "22" "50964722" "50964722" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:00" "SCO2_000030" "g.50964722A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020180" "" "0000020181" "0" "99" "22" "50964746" "50964746" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-12 09:39:07" "SCO2_000031" "g.50964746del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020181" "" "0000020182" "0" "99" "22" "50964767" "50964767" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:41:42" "SCO2_000032" "g.50964767A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020182" "" "0000020183" "0" "55" "22" "50964790" "50964790" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:57:52" "SCO2_000053" "g.50964790C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020183" "" "0000020184" "0" "55" "22" "50964806" "50964806" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:36:39" "SCO2_000054" "g.50964806A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020184" "" "0000020185" "0" "99" "22" "50964815" "50964824" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:54:33" "SCO2_000055" "g.50964815_50964824delinsTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020185" "" "0000020186" "0" "99" "22" "50964822" "50964823" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:42:21" "SCO2_000056" "g.50964822_50964823insGCCGTCGTCCAGCGCCGC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020186" "" "0000020187" "0" "55" "22" "50964839" "50964839" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-17 19:04:20" "SCO2_000057" "g.50964839G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020187" "" "0000020188" "0" "11" "22" "50964862" "50964862" "subst" "35" "0.630485" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 08:59:21" "SCO2_000058" "g.50964862G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020188" "" "0000020189" "0" "11" "22" "50964868" "50964868" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-01 16:44:58" "SCO2_000059" "g.50964868A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020189" "" "0000026038" "0" "00" "22" "50962463" "50962463" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:15:01" "NCAPH2_000015" "g.50962463C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026039" "0" "00" "22" "50964207" "50964207" "subst" "35" "0.0000799488" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:30:18" "SCO2_000062" "g.50964207G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026040" "0" "00" "22" "50964339" "50964340" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:10:03" "SCO2_000061" "g.50964339_50964340insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026041" "0" "00" "22" "50964670" "50964670" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:33:21" "SCO2_000060" "g.50964670C>T" "" "" "" "" "" "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 = 342 "{{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}}" "0000000920" "00000292" "99" "674" "0" "674" "0" "c.674C>T" "2/2" "p.(Ser225Phe)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000921" "00000292" "99" "511" "0" "511" "0" "c.511C>T" "2/2" "p.(Arg171Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000922" "00000292" "99" "418" "0" "418" "0" "c.418G>A" "2/2" "p.(Glu140Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000923" "00000292" "99" "398" "0" "398" "0" "c.398G>A" "2/2" "p.(Cys133Tyr)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000924" "00000292" "99" "268" "0" "268" "0" "c.268C>T" "2/2" "p.(Arg90*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000925" "00000292" "99" "157" "0" "157" "0" "c.157C>T" "2/2" "p.(Gln53*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000926" "00000290" "99" "107" "0" "107" "0" "c.107G>A" "2/2" "p.(Trp36*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000926" "00000291" "99" "107" "0" "107" "0" "c.107G>A" "2/2" "p.(Trp36*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000926" "00000292" "99" "107" "0" "107" "0" "c.107G>A" "2/2" "p.(Trp36*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000926" "00000293" "99" "107" "0" "107" "0" "c.107G>A" "2/2" "p.(Trp36*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005210" "00000290" "00" "674" "0" "674" "0" "c.674C>T" "2/2" "p.(Ser225Phe)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000005210" "00000291" "00" "674" "0" "674" "0" "c.674C>T" "2/2" "p.(Ser225Phe)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000005210" "00000292" "00" "674" "0" "674" "0" "c.674C>T" "2/2" "p.(Ser225Phe)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000005210" "00000293" "00" "674" "0" "674" "0" "c.674C>T" "2/2" "p.(Ser225Phe)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000005211" "00000290" "00" "511" "0" "511" "0" "c.511C>T" "2/2" "p.(Arg171Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005211" "00000291" "00" "511" "0" "511" "0" "c.511C>T" "2/2" "p.(Arg171Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005211" "00000292" "00" "511" "0" "511" "0" "c.511C>T" "2/2" "p.(Arg171Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005211" "00000293" "00" "511" "0" "511" "0" "c.511C>T" "2/2" "p.(Arg171Trp)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005212" "00000290" "00" "418" "0" "418" "0" "c.418G>A" "2/2" "p.(Glu140Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005212" "00000291" "00" "418" "0" "418" "0" "c.418G>A" "2/2" "p.(Glu140Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005212" "00000292" "00" "418" "0" "418" "0" "c.418G>A" "2/2" "p.(Glu140Lys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005212" "00000293" "00" "418" "0" "418" "0" "c.418G>A" "2/2" "p.(Glu140Lys)" "r.(?)" 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"" "" "" "" "" "-" "0000020134" "00000291" "00" "157" "0" "157" "0" "c.157C>T" "" "p.(Gln53*)" "r.(?)" "" "" "" "" "" "-" "0000020134" "00000292" "00" "157" "0" "157" "0" "c.157C>T" "" "p.(Gln53*)" "r.(?)" "" "" "" "" "" "-" "0000020134" "00000293" "00" "157" "0" "157" "0" "c.157C>T" "" "p.(Gln53*)" "r.(?)" "" "" "" "" "" "-" "0000020135" "00000290" "00" "107" "0" "107" "0" "c.107G>A" "" "p.(Trp36*)" "r.(?)" "" "" "" "" "" "-" "0000020135" "00000291" "00" "107" "0" "107" "0" "c.107G>A" "" "p.(Trp36*)" "r.(?)" "" "" "" "" "" "-" "0000020135" "00000292" "00" "107" "0" "107" "0" "c.107G>A" "" "p.(Trp36*)" "r.(?)" "" "" "" "" "" "-" "0000020135" "00000293" "00" "107" "0" "107" "0" "c.107G>A" "" "p.(Trp36*)" "r.(?)" "" "" "" "" "" "-" "0000020136" "00000290" "00" "59" "0" "59" "0" "c.59G>C" "" "p.(Arg20Pro)" "r.(?)" "" "" "" "" "" "-" "0000020136" "00000291" "00" "59" "0" "59" "0" "c.59G>C" "" "p.(Arg20Pro)" "r.(?)" 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