### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPV17) # 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}}" "MPV17" "MpV17 mitochondrial inner membrane protein" "2" "p23.3" "unknown" "NC_000002.11" "UD_132118941721" "" "" "" "1" "1" "7224" "4358" "137960" "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 ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000173" "MPV17" "MpV17 mitochondrial inner membrane protein" "001" "NM_002437.4" "" "NP_002428.1" "" "" "" "-56" "951" "531" "27545969" "27532360" "00001" "2013-11-07 13:54:37" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00035" "MTDPS6" "Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)" "256810" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MPV17" "00035" ## 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 = 64 "{{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}}" "0000000803" "0" "99" "2" "27532802" "27532802" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:28" "MPV17_000001" "g.27532802G>A" "" "{PMID:22593919:22593919}" "" "rs267607260" "subst" "0" "; clinVar; Ensembl;" "5.090" "" "" "" "" "MSCV_0000803" "" "0000000804" "0" "99" "2" "27532813" "27532813" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:28" "MPV17_000002" "g.27532813G>T" "" "{PMID:16582910:16582910};{PMID:22593919:22593919}" "" "rs121909722" "subst" "0" "; clinVar; Ensembl;" "4.190" "" "" "" "" "MSCV_0000804" "" "0000000805" "0" "99" "2" "27532826" "27532826" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:28" "MPV17_000003" "g.27532826G>T" "" "{PMID:22593919:22593919}" "" "rs267607259" "subst" "0" "; clinVar; Ensembl;" "5.100" "" "" "" "" "MSCV_0000805" "" "0000000806" "0" "99" "2" "27534776" "27534777" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:28" "MPV17_000004" "g.27534776_27534777insG" "" "{PMID:22593919:22593919}" "" "rs267607267" "ins" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000806" "" "0000000807" "0" "99" "2" "27535377" "27535377" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:29" "MPV17_000005" "g.27535377C>T" "" "{PMID:22593919:22593919};{PMID:18695062:18695062}" "" "rs121909724" "subst" "0" "; clinVar; Ensembl;" "4.480" "" "" "" "" "MSCV_0000807" "" "0000000808" "0" "99" "2" "27535443" "27535443" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:29" "MPV17_000006" "g.27535443G>A" "" "{PMID:22593919:22593919}" "" "rs267607258" "subst" "0" "; clinVar; Ensembl;" "4.570" "" "" "" "" "MSCV_0000808" "" "0000000809" "0" "99" "2" "27535456" "27535456" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:29" "MPV17_000007" "g.27535456C>G" "" "{PMID:22593919:22593919}" "" "rs267607257" "subst" "0" "; clinVar; Ensembl;" "4.330" "" "" "" "" "MSCV_0000809" "" "0000000810" "0" "99" "2" "27535553" "27535555" "del" "35" "0.0013587" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:29" "MPV17_000008" "g.27535553_27535555del" "" "{PMID:22593919:22593919}" "" "rs267607264" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000810" "" "0000000811" "0" "99" "2" "27535561" "27535563" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:30" "MPV17_000009" "g.27535561_27535563del" "" "{PMID:22593919:22593919}" "" "rs267607263" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000811" "" "0000000812" "0" "99" "2" "27535564" "27535564" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-06-28 08:51:12" "MPV17_000010" "g.27535564T>C" "" "{PMID:22593919:22593919}" "" "rs267607256" "subst" "0" "; clinVar; Ensembl;" "5.580" "" "" "" "" "MSCV_0000812" "" "0000000813" "0" "99" "2" "27535584" "27535592" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:30" "MPV17_000011" "g.27535584_27535592del" "" "{PMID:22593919:22593919}" "" "rs267607262" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000813" "" "0000000814" "0" "99" "2" "27535620" "27535620" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:31" "MPV17_000012" "g.27535620C>T" "" "{PMID:22593919:22593919}" "" "rs267607261" "subst" "0" "; clinVar; Ensembl;" "5.580" "" "" "" "" "MSCV_0000814" "" "0000000815" "0" "99" "2" "27535859" "27535859" "subst" "51" "0.000153775" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 01:56:07" "MPV17_000013" "g.27535859A>G" "" "{PMID:22593919:22593919}" "" "rs147952488" "subst" "0" "; clinVar; Ensembl;" "5.150" "" "" "" "" "MSCV_0000815" "" "0000000816" "0" "99" "2" "27535898" "27535898" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:26" "MPV17_000014" "g.27535898C>T" "" "{PMID:22593919:22593919};{PMID:16582910:16582910};{PMID:16909392:16909392}" "" "rs121909721" "subst" "0" "; clinVar; Ensembl;" "5.370" "" "" "" "" "MSCV_0000816" "" "0000000817" "0" "99" "2" "27535899" "27535899" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:36:26" "MPV17_000015" "g.27535899G>A" "" "{PMID:22593919:22593919};{PMID:16582910:16582910}" "" "rs121909723" "subst" "0" "; clinVar; Ensembl;" "3.290" "" "" "" "" "MSCV_0000817" "" "0000000818" "0" "99" "2" "27535906" "27535931" "del" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-26 15:09:10" "MPV17_000016" "g.27535906_27535931del" "" "{PMID:22593919:22593919}" "" "rs397507438" "del" "0" "; clinVar;" "" "" "" "" "" "MSCV_0000818" "" "0000000819" "0" "99" "2" "27545310" "27545310" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:31" "MPV17_000017" "g.27545310C>T" "" "{PMID:22593919:22593919}" "" "rs267607268" "subst" "0" "; clinVar; Ensembl;" "4.680" "" "" "" "" "MSCV_0000819" "" "0000000820" "0" "99" "2" "27545315" "27545315" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:32" "MPV17_000018" "g.27545315C>A" "" "{PMID:18695062:18695062};{PMID:22593919:22593919}" "" "rs121909725" "subst" "0" "; clinVar; Ensembl;" "4.680" "" "" "" "" "MSCV_0000820" "" "0000000821" "0" "99" "2" "27545362" "27545363" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:49:32" "MPV17_000019" "g.27545362_27545363insG" "" "{PMID:22593919:22593919}" "" "rs267607266" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0000821" "" "0000019020" "0" "55" "2" "27532367" "27532367" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:34:10" "MPV17_000037" "g.27532367T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019020" "" "0000019021" "0" "55" "2" "27532420" "27532420" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:34:11" "MPV17_000038" "g.27532420C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019021" "" "0000019022" "0" "55" "2" "27532433" "27532433" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-25 10:13:45" "MPV17_000039" "g.27532433G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019022" "" "0000019023" "0" "55" "2" "27532586" "27532586" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:34:13" "MPV17_000040" "g.27532586C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019023" "" "0000019024" "0" "55" "2" "27532650" "27532650" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-13 20:00:40" "MPV17_000041" "g.27532650C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019024" "" "0000019025" "0" "55" "2" "27532700" "27532700" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:34:15" "MPV17_000042" "g.27532700G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019025" "" "0000019026" "0" "55" "2" "27532746" "27532746" "subst" "35" "0.00146086" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:34:16" "MPV17_000043" "g.27532746C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019026" "" "0000019027" "0" "99" "2" "27532802" "27532802" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:29" "MPV17_000001" "g.27532802G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000803" "" "0000019028" "0" "99" "2" "27532813" "27532813" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:30" "MPV17_000002" "g.27532813G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000804" "" "0000019029" "0" "99" "2" "27532826" "27532826" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:31" "MPV17_000003" "g.27532826G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000805" "" "0000019030" "0" "77" "2" "27534767" "27534767" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:33" "MPV17_000032" "g.27534767C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019030" "" "0000019031" "0" "00" "2" "27534776" "27534777" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:34" "MPV17_000004" "g.27534776_27534777insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000806" "" "0000019032" "0" "99" "2" "27534820" "27534820" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:35" "MPV17_000020" "g.27534820C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019032" "" "0000019033" "0" "99" "2" "27535115" "27535115" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:36" "MPV17_000033" "g.27535115C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019033" "" "0000019034" "0" "99" "2" "27535116" "27535116" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:38" "MPV17_000034" "g.27535116T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019034" "" "0000019035" "0" "55" "2" "27535363" "27535363" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:40" "MPV17_000035" "g.27535363G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019035" "" "0000019036" "0" "99" "2" "27535377" "27535377" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:41" "MPV17_000005" "g.27535377C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000807" "" "0000019037" "0" "77" "2" "27535439" "27535439" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:43" "MPV17_000036" "g.27535439A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019037" "" "0000019038" "0" "99" "2" "27535443" "27535443" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:17" "MPV17_000021" "g.27535443del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019038" "" "0000019039" "0" "99" "2" "27535443" "27535443" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:18" "MPV17_000006" "g.27535443G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000808" "" "0000019040" "0" "99" "2" "27535451" "27535452" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-16 00:33:31" "MPV17_000022" "g.27535451_27535452insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019040" "" "0000019041" "0" "99" "2" "27535452" "27535452" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:22" "MPV17_000023" "g.27535452C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019041" "" "0000019042" "0" "99" "2" "27535456" "27535456" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-09-26 04:10:58" "MPV17_000007" "g.27535456C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000809" "" "0000019043" "0" "77" "2" "27535551" "27535551" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:25" "MPV17_000024" "g.27535551T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019043" "" "0000019044" "0" "00" "2" "27535553" "27535555" "del" "35" "0.0013587" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:27" "MPV17_000008" "g.27535553_27535555del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000810" "" "0000019045" "0" "77" "2" "27535561" "27535563" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:28" "MPV17_000009" "g.27535561_27535563del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000811" "" "0000019046" "0" "99" "2" "27535564" "27535564" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:29" "MPV17_000010" "g.27535564T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000812" "" "0000019047" "0" "99" "2" "27535584" "27535592" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:31" "MPV17_000011" "g.27535584_27535592del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000813" "" "0000019048" "0" "99" "2" "27535620" "27535620" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:32" "MPV17_000012" "g.27535620C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000814" "" "0000019049" "0" "99" "2" "27535635" "27535635" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:33" "MPV17_000025" "g.27535635G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019049" "" "0000019050" "0" "99" "2" "27535859" "27535859" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:34" "MPV17_000013" "g.27535859A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000815" "" "0000019051" "0" "55" "2" "27535883" "27535883" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:35" "MPV17_000026" "g.27535883A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019051" "" "0000019052" "0" "99" "2" "27535898" "27535898" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:37" "MPV17_000014" "g.27535898C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000816" "" "0000019053" "0" "99" "2" "27535899" "27535899" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:38" "MPV17_000015" "g.27535899G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000817" "" "0000019054" "0" "99" "2" "27535900" "27535925" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:39" "MPV17_000027" "g.27535900_27535925del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019054" "" "0000019055" "0" "99" "2" "27535941" "27535941" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:40" "MPV17_000028" "g.27535941G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019055" "" "0000019056" "0" "99" "2" "27545310" "27545310" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:42" "MPV17_000017" "g.27545310C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000819" "" "0000019057" "0" "99" "2" "27545315" "27545315" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:43" "MPV17_000018" "g.27545315C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000820" "" "0000019058" "0" "77" "2" "27545358" "27545358" "subst" "35" "0.00330617" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:45" "MPV17_000029" "g.27545358C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019058" "" "0000019059" "0" "99" "2" "27545362" "27545363" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:47" "MPV17_000019" "g.27545362_27545363insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000821" "" "0000019060" "0" "55" "2" "27545911" "27545911" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:48" "MPV17_000030" "g.27545911C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019060" "" "0000019061" "0" "55" "2" "27545924" "27545924" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:01:49" "MPV17_000031" "g.27545924C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019061" "" "0000025693" "0" "00" "2" "27535081" "27535081" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-10 03:50:08" "MPV17_000044" "g.27535081C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025694" "0" "00" "2" "27535361" "27535361" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:21:03" "MPV17_000045" "g.27535361C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025695" "0" "00" "2" "27535912" "27535912" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:21:09" "MPV17_000046" "g.27535912del" "" "" "" "" "" "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 = 64 "{{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}}" "0000000803" "00000173" "99" "509" "0" "509" "0" "c.509C>T" "8/8" "p.(Ser170Phe)" "r.(?)" "probably_damaging(0.975)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000804" "00000173" "99" "498" "0" "498" "0" "c.498C>A" "8/8" "p.(Asn166Lys)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000000805" "00000173" "99" "485" "0" "485" "0" "c.485C>A" "8/8" "p.(Ala162Asp)" "r.(?)" "probably_damaging(0.921)" "" "missense_variant" "" "" "deleterious(0)" "0000000806" "00000173" "99" "452" "0" "451" "0" "c.451_452insC" "" "p.(Leu151Profs*39)" "r.(?)" "" "" "" "" "" "-" "0000000807" "00000173" "99" "359" "0" "359" "0" "c.359G>A" "5/8" "p.(Trp120*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000808" "00000173" "99" "293" "0" "293" "0" "c.293C>T" "5/8" "p.(Pro98Leu)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000000809" "00000173" "99" "280" "0" "280" "0" "c.280G>C" "5/8" "p.(Gly94Arg)" "r.(?)" "possibly_damaging(0.707)" "" "missense_variant,splice_region_variant" "" "" "tolerated(0.36)" "0000000810" "00000173" "99" "273" "0" "271" "0" "c.271_273del" "" "p.(Leu91del)" "r.(?)" "" "" "" "" "" "-" "0000000811" "00000173" "99" "265" "0" "263" "0" "c.263_265del" "" "p.(Lys88del)" "r.(?)" "" "" "" "" "" "-" "0000000812" "00000173" "99" "262" "0" "262" "0" "c.262A>G" "4/8" "p.(Lys88Glu)" "r.(?)" "possibly_damaging(0.695)" "" "missense_variant" "" "" "deleterious(0)" "0000000813" "00000173" "99" "242" "0" "234" "0" "c.234_242del" "" "p.(Gly79_Thr81del)" "r.(?)" "" "" "" "" "" "-" "0000000814" "00000173" "99" "206" "0" "206" "0" "c.206G>A" "4/8" "p.(Trp69*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000815" "00000173" "99" "186" "2" "186" "2" "c.186+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000816" "00000173" "99" "149" "0" "149" "0" "c.149G>A" "3/8" "p.(Arg50Gln)" "r.(?)" "probably_damaging(0.92)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000817" "00000173" "99" "148" "0" "148" "0" "c.148C>T" "3/8" "p.(Arg50Trp)" "r.(?)" "probably_damaging(0.992)" "" "missense_variant" "" "" "deleterious(0)" "0000000818" "00000173" "99" "141" "0" "116" "0" "c.116_141del" "" "p.(Arg41Profs*63)" "r.(?)" "" "" "" "" "" "-" "0000000819" "00000173" "99" "70" "5" "70" "5" "c.70+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000820" "00000173" "99" "70" "0" "70" "0" "c.70G>T" "2/8" "p.(Gly24Trp)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000000821" "00000173" "99" "23" "0" "22" "0" "c.22_23insC" "" "p.(Gln8Profs*24)" "r.(?)" "" "" "" "" "" "-" "0000019020" "00000173" "00" "944" "0" "944" "0" "c.*413A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019021" "00000173" "00" "891" "0" "891" "0" "c.*360G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019022" "00000173" "00" "878" "0" "878" "0" "c.*347C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019023" "00000173" "00" "725" "0" "725" "0" "c.*194G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019024" "00000173" "00" "661" "0" "661" "0" "c.*130G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019025" "00000173" "00" "611" "0" "611" "0" "c.*80C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019026" "00000173" "00" "565" "0" "565" "0" "c.*34G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019027" "00000173" "00" "509" "0" "509" "0" "c.509C>T" "" "p.(Ser170Phe)" "r.(?)" "" "" "" "" "" "-" "0000019028" "00000173" "00" "498" "0" "498" "0" "c.498C>A" "" "p.(Asn166Lys)" "r.(?)" "" "" "" "" "" "-" "0000019029" "00000173" "00" "485" "0" "485" "0" "c.485C>A" "" "p.(Ala162Asp)" "r.(?)" "" "" "" "" "" "-" "0000019030" "00000173" "00" "461" "0" "461" "0" "c.461G>T" "" "p.(Arg154Met)" "r.(?)" "" "" "" "" "" "-" "0000019031" "00000173" "00" "451" "0" "452" "0" "c.451_452insC" "" "p.(Leu151Profs*39)" "r.(?)" "" "" "" "" "" "-" "0000019032" "00000173" "00" "409" "-1" "409" "-1" "c.409-1G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019033" "00000173" "00" "376" "-1" "376" "-1" "c.376-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019034" "00000173" "00" "376" "-2" "376" "-2" "c.376-2A>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019035" "00000173" "00" "373" "0" "373" "0" "c.373C>T" "" "p.(Arg125Trp)" "r.(?)" "" "" "" "" "" "-" "0000019036" "00000173" "00" "359" "0" "359" "0" "c.359G>A" "" "p.(Trp120*)" "r.(?)" "" "" "" "" "" "-" "0000019037" "00000173" "00" "297" "0" "297" "0" "c.297T>A" "" "p.(Cys99*)" "r.(?)" "" "" "" "" "" "-" "0000019038" "00000173" "00" "293" "0" "293" "0" "c.293del" "" "p.(Pro98Argfs*4)" "r.(?)" "" "" "" "" "" "-" "0000019039" "00000173" "00" "293" "0" "293" "0" "c.293C>T" "" "p.(Pro98Leu)" "r.(?)" "" "" "" "" "" "-" "0000019040" "00000173" "00" "284" "0" "285" "0" "c.284_285insG" "" "p.(Phe96Leufs*17)" "r.(?)" "" "" "" "" "" "-" "0000019041" "00000173" "00" "284" "0" "284" "0" "c.284G>A" "" "p.(Gly95Asp)" "r.(?)" "" "" "" "" "" "-" "0000019042" "00000173" "00" "280" "0" "280" "0" "c.280G>C" "" "p.(Gly94Arg)" "r.(?)" "" "" "" "" "" "-" "0000019043" "00000173" "00" "275" "0" "275" "0" "c.275A>G" "" "p.(Asp92Gly)" "r.(?)" "" "" "" "" "" "-" "0000019044" "00000173" "00" "271" "0" "273" "0" "c.271_273del" "" "p.(Leu91del)" "r.(?)" "" "" "" "" "" "-" "0000019045" "00000173" "00" "263" "0" "265" "0" "c.263_265del" "" "p.(Lys88del)" "r.(?)" "" "" "" "" "" "-" "0000019046" "00000173" "00" "262" "0" "262" "0" "c.262A>G" "" "p.(Lys88Glu)" "r.(?)" "" "" "" "" "" "-" "0000019047" "00000173" "00" "234" "0" "242" "0" "c.234_242del" "" "p.(Gly79_Thr81del)" "r.(?)" "" "" "" "" "" "-" "0000019048" "00000173" "00" "206" "0" "206" "0" "c.206G>A" "" "p.(Trp69*)" "r.(?)" "" "" "" "" "" "-" "0000019049" "00000173" "00" "191" "0" "191" "0" "c.191C>G" "" "p.(Pro64Arg)" "r.(?)" "" "" "" "" "" "-" "0000019050" "00000173" "00" "186" "2" "186" "2" "c.186+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019051" "00000173" "00" "164" "0" "164" "0" "c.164T>C" "" "p.(Val55Ala)" "r.(?)" "" "" "" "" "" "-" "0000019052" "00000173" "00" "149" "0" "149" "0" "c.149G>A" "" "p.(Arg50Gln)" "r.(?)" "" "" "" "" "" "-" "0000019053" "00000173" "00" "148" "0" "148" "0" "c.148C>T" "" "p.(Arg50Trp)" "r.(?)" "" "" "" "" "" "-" "0000019054" "00000173" "00" "122" "0" "147" "0" "c.122_147del" "" "p.(Arg41Profs*63)" "r.(?)" "" "" "" "" "" "-" "0000019055" "00000173" "00" "106" "0" "106" "0" "c.106C>T" "" "p.(Gln36*)" "r.(?)" "" "" "" "" "" "-" "0000019056" "00000173" "00" "70" "5" "70" "5" "c.70+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019057" "00000173" "00" "70" "0" "70" "0" "c.70G>T" "" "p.(Gly24Trp)" "r.(?)" "" "" "" "" "" "-" "0000019058" "00000173" "00" "27" "0" "27" "0" "c.27G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019059" "00000173" "00" "22" "0" "23" "0" "c.22_23insC" "" "p.(Gln8Profs*24)" "r.(?)" "" "" "" "" "" "-" "0000019060" "00000173" "00" "-6" "8" "-6" "8" "c.-6+8G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019061" "00000173" "00" "-11" "0" "-11" "0" "c.-11G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025693" "00000173" "00" "408" "1" "408" "1" "c.408+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025694" "00000173" "00" "375" "0" "375" "0" "c.375G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025695" "00000173" "00" "135" "0" "135" "0" "c.135del" "" "p.(Glu45Aspfs*8)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0