### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNPO3) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "TNPO3" "transportin 3" "7" "q32.2" "unknown" "NG_023428.1" "UD_132085245811" "" "https://www.LOVD.nl/TNPO3" "" "1" "17103" "23534" "610032" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/TNPO3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2013-06-01 00:00:00" "00006" "2018-12-28 12:54:36" "00000" "2025-11-01 13:22:20" ## 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}}" "00021604" "TNPO3" "transcript variant 1" "002" "NM_012470.3" "" "NP_036602.1" "" "" "" "-403" "4009" "2772" "128695227" "128594234" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04288" "LGMDD2;LGMD1F" "dystrophy, muscular, limb-girdle, autosomal dominant, type 2 (LGMD1F)" "AD" "608423" "" "" "" "00006" "2015-06-19 22:24:12" "00006" "2024-01-12 20:56:41" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TNPO3" "04288" ## Individuals ## Do not remove or alter this header ## ## Count = 111 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050581" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00210641" "" "" "" "3" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamII.1" "00210642" "" "" "00210641" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamII.2" "00210643" "" "" "00210641" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamII.3" "00210644" "" "" "" "9" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamIII.1" "00210645" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamIII.2" "00210646" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamIII.8" "00210647" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">78y" "0" "" "" "" "23543484-FamIII.10" "00210648" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">76y" "0" "" "" "" "23543484-FamIII.11" "00210649" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "6-generation family, 50 affecteds" "F" "no" "Spain" ">66y" "0" "" "" "" "23543484-FamIII.12" "00210650" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamIII.14" "00210651" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamIII.18" "00210652" "" "" "00210644" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamIII.19" "00210653" "" "" "" "22" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamIV.1" "00210654" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamIV.4" "00210655" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamIV.10" "00210656" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamIV.11" "00210657" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamIV.12" "00210658" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">42y" "0" "" "" "" "23543484-FamIV.6" "00210659" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">57y" "0" "" "" "" "23543484-FamIV.13" "00210660" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">55y" "0" "" "" "" "23543484-FamIV.14" "00210661" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">47y" "0" "" "" "" "23543484-FamIV.16" "00210662" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">41y" "0" "" "" "" "23543484-FamIV.17" "00210663" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">57y" "0" "" "" "" "23543484-FamIV.18" "00210664" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">52y" "0" "" "" "" "23543484-FamIV.19" "00210665" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">54y" "0" "" "" "" "23543484-FamIV.20" "00210666" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">53y" "0" "" "" "" "23543484-FamIV.21" "00210667" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">47y" "0" "" "" "" "23543484-FamIV.23" "00210668" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">47y" "0" "" "" "" "23543484-FamIV.24" "00210669" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">46y" "0" "" "" "" "23543484-FamIV.26" "00210670" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">44y" "0" "" "" "" "23543484-FamIV.27" "00210671" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">41y" "0" "" "" "" "23543484-FamIV.28" "00210672" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">40y" "0" "" "" "" "23543484-FamIV.29" "00210673" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">31y" "0" "" "" "" "23543484-FamIV.31" "00210674" "" "" "00210653" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamIV.36" "00210675" "" "" "" "14" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamV.1" "00210676" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamV.2" "00210677" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamV.5" "00210678" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" "" "0" "" "" "" "23543484-FamV.6" "00210679" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">28y" "0" "" "" "" "23543484-FamV.7" "00210680" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">27y" "0" "" "" "" "23543484-FamV.9" "00210681" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" "" "0" "" "" "" "23543484-FamV.14" "00210682" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">29y" "0" "" "" "" "23543484-FamV.17" "00210683" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">26y" "0" "" "" "" "23543484-FamV.18" "00210684" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "M" "no" "Spain" ">25y" "0" "" "" "" "23543484-FamV.19" "00210685" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">28y" "0" "" "" "" "23543484-FamV.20" "00210686" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">29y" "0" "" "" "" "23543484-FamV.30" "00210687" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">16y" "0" "" "" "" "23543484-FamV.34" "00210688" "" "" "00210675" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">8y" "0" "" "" "" "23543484-FamV.36" "00210689" "" "" "" "2" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">7y" "0" "" "" "" "23543484-FamVI.3" "00210690" "" "" "00210689" "1" "" "00006" "{PMID:Melia 2013:23543484}" "" "F" "no" "Spain" ">3y" "0" "" "" "" "23543484-FamVI.5" "00210691" "" "" "" "14" "" "00006" "{PMID:Torella 2013:23667635}" "7-generation family, 64 affecteds (family contains additional branch not in Melia (2013)" "" "no" "Spain" "" "0" "" "" "" "23543484-FamIII.12" "00210692" "" "" "" "1" "" "00006" "{PMID:Torella 2013:23667635}" "4-generation family, 1 affected" "M" "no" "Spain" "" "0" "" "" "" "23543484-Fam" "00219446" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219572" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219599" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220010" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220061" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220064" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220086" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220151" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220191" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220199" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220388" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220414" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220481" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220513" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220533" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220581" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220595" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220712" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220715" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220726" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220777" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220925" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221032" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221121" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221129" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221244" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221310" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221369" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221538" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221542" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221565" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221593" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221609" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221643" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221652" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221744" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221862" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221947" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222137" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222175" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222177" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222222" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222271" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222273" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222546" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222610" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222679" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222697" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222712" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "M" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00289304" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00294325" "" "" "" "254" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295943" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00305131" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00398997" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "F" "" "Spain" "" "0" "" "" "" "P19" "00399002" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P26" "00430474" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 146 neuromuscular disease patients, unsolved" "F" "" "Turkey" "" "0" "" "" "" "U18" "00436410" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "269670" "00438552" "" "" "" "1" "" "00006" "{PMID:Cavdarli 2023:36575883}" "analysis 67 patients muscular dystrophy/myopathy (not DMD)" "F" "" "Turkey" "" "0" "" "" "" "U18" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 111 "{{individualid}}" "{{diseaseid}}" "00050581" "00198" "00210641" "05126" "00210642" "05126" "00210643" "05126" "00210644" "05126" "00210645" "05126" "00210646" "05126" "00210647" "05126" "00210648" "05126" "00210649" "05126" "00210650" "05126" "00210651" "05126" "00210652" "05126" "00210653" "05126" "00210654" "05126" "00210655" "05126" "00210656" "05126" "00210657" "05126" "00210658" "05126" "00210659" "05126" "00210660" "05126" "00210661" "05126" "00210662" "05126" "00210663" "05126" "00210664" "05126" "00210665" "05126" "00210666" "05126" "00210667" "05126" "00210668" "05126" "00210669" "05126" "00210670" "05126" "00210671" "05126" "00210672" "05126" "00210673" "05126" "00210674" "05126" "00210675" "05126" "00210676" "05126" "00210677" "05126" "00210678" "05126" "00210679" "05126" "00210680" "05126" "00210681" "05126" "00210682" "05126" "00210683" "05126" "00210684" "05126" "00210685" "05126" "00210686" "05126" "00210687" "05126" "00210688" "05126" "00210689" "05126" "00210690" "05126" "00210691" "05126" "00210692" "05126" "00219446" "05126" "00219572" "05126" "00219599" "05126" "00220010" "05126" "00220061" "05126" "00220064" "05126" "00220086" "05126" "00220151" "05126" "00220191" "05126" "00220199" "05126" "00220388" "05126" "00220414" "05126" "00220481" "05126" "00220513" "05126" "00220533" "05126" "00220581" "05126" "00220595" "05126" "00220712" "05126" "00220715" "05126" "00220726" "05126" "00220777" "05126" "00220925" "05126" "00221032" "05126" "00221121" "05126" "00221129" "05126" "00221244" "05126" "00221310" "05126" "00221369" "05126" "00221538" "05126" "00221542" "05126" "00221565" "05126" "00221593" "05126" "00221609" "05126" "00221643" "05126" "00221652" "05126" "00221744" "05126" "00221862" "05126" "00221947" "05126" "00222137" "05126" "00222175" "05126" "00222177" "05126" "00222222" "05126" "00222271" "05126" "00222273" "05126" "00222546" "05126" "00222610" "05126" "00222679" "05126" "00222697" "05126" "00222712" "05126" "00289304" "00198" "00294325" "00198" "00295943" "00198" "00305131" "00198" "00398997" "05618" "00399002" "05618" "00430474" "05618" "00436410" "04288" "00438552" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04288, 05121, 05126, 05618 ## Count = 60 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037193" "00198" "00050581" "00006" "Isolated (sporadic)" "" "patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum" "" "" "" "" "" "" "" "" "" "" "" "0000159206" "05126" "00210641" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159207" "05126" "00210642" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159208" "05126" "00210643" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159209" "05126" "00210644" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159210" "05126" "00210645" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159211" "05126" "00210646" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159212" "05126" "00210647" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 8 (4 38y); Brook scale 4" "38y" "" "difficulty rising from sitting, difficulty climbing stairs, fatigue" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159213" "05126" "00210648" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 6 (4 47y); Brook scale 4" "47y" "" "difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159214" "05126" "00210649" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 2; Brook scale 1; CPK 320" "40y" "" "difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159215" "05126" "00210650" "00006" "Familial, autosomal dominant" "" "" "" "" "" "WB TNPO3 decreased" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159216" "05126" "00210651" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159217" "05126" "00210652" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159218" "05126" "00210653" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159219" "05126" "00210654" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159220" "05126" "00210655" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159221" "05126" "00210656" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159222" "05126" "00210657" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159223" "05126" "00210658" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; nocturnal ventilation; dizziness ataxia; Vignos scale 8 (4 10y); Brook scale 4; CPK 2200" "1y" "" "early motor skills delayed, tendon retraction, difficulty rising from sitting,difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159224" "05126" "00210659" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; retractions/skeletal deformities?; ptosis?, dysphagia?; respiratory insuficiency?; dizziness ataxia?; Vignos scale 5 (4 12y); Brook scale 3; CPK 220" "10y" "" "difficulty running or jumping , difficulty playing sports" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159225" "05126" "00210660" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; nocturnal ventilation; dizziness ataxia?; Vignos scale 9 (4 15y); Brook scale 4; CPK 800" "10y" "" "difficulty running or jumping, difficulty playing sports" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159226" "05126" "00210661" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 25y); Brook scale 2; CPK 1500" "16y" "" "difficulty running or jumping, difficulty playing sports, fatigue" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159227" "05126" "00210662" "00006" "Familial, autosomal dominant" "" "no acanthosis nigricans, hepatosplenomegaly, reduced growth hormone secretion, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, caridac arrhythmia, lordosis, contractures (ankles, shoulders, fingers), constipation; CPK 1374" "10y" "" "difficulty running or jumping, difficulty playing sports, fatigue" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159228" "05126" "00210663" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; ptosis, dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 3; Brook scale 2; CPK 210" "25y" "" "difficulty rising from sitting, difficulty climbing stairs" "WB TNPO3 decreased" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159229" "05126" "00210664" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 4 (4 30y); Brook scale 2; CPK 175" "8y" "" "difficulty running or jumping, difficulty playing sports" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159230" "05126" "00210665" "00006" "Familial, autosomal dominant" "" "no acanthosis nigricans, no muscle weakness, nephrosis; CPK 2000" "7y" "" "early motor skills delayed, tendon retraction, difficulty rising from sitting,difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159231" "05126" "00210666" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 5 (4 25y); Brook scale 3; CPK 1500" "25y" "" "difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159232" "05126" "00210667" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy?, lower leg weakness?; no retractions/skeletal deformities; ptosis?, dysphagia?; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 2" "12y" "" "difficulty running or jumping, difficulty playing sports, fatigue" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159233" "05126" "00210668" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 2; Brook scale 1; CPK 220" "11y" "" "difficulty running or jumping, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159234" "05126" "00210669" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 9 (4 15y); Brook scale 4; CPK 295" "5y" "" "difficulty running or jumping, difficulty rising from sitting, fatigue" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159235" "05126" "00210670" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; retractions/skeletal deformities?; no ptosis, dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 4 (4 30y); Brook scale 3; CPK 204" "40y" "" "difficulty running or jumping, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159236" "05126" "00210671" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia?; Vignos scale 3; Brook scale 2" "20y" "" "difficulty running or jumping, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159237" "05126" "00210672" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 2" "7y" "" "difficulty running or jumping, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159238" "05126" "00210673" "00006" "Familial, autosomal dominant" "" "no acanthosis nigricans, acromegaloid features, no androgynism, distal dominant muscle weakness, muscle mounding, muscle hypertrophy, scoliosis, recurrent pneumonia, chalaisa, constipation; CPK 645-2630" "18y" "" "difficulty running, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159239" "05126" "00210674" "00006" "Familial, autosomal dominant" "" "" "" "" "" "WB TNPO3 raised" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159240" "05126" "00210675" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159241" "05126" "00210676" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159242" "05126" "00210677" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159243" "05126" "00210678" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159244" "05126" "00210679" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; retractions/skeletal deformities?; ptosis, dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 1; CPK 140" "10y" "" "difficulty running, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159245" "05126" "00210680" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 1; Brook scale 1" "14y" "" "exercise intolerance, myalgia, fatigue" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159246" "05126" "00210681" "00006" "Familial, autosomal dominant" "" "" "" "" "" "WB TNPO3 decreased" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159247" "05126" "00210682" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 3; Brook scale 1" "7y" "" "difficulty running or jumping, difficulty playing sports" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159248" "05126" "00210683" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy?, lower leg weakness?; retractions/skeletal deformities?; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 4 (4 20y); Brook scale 1" "14y" "" "difficulty running, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159249" "05126" "00210684" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; respiratory insuficiency?; dizziness ataxia?; Vignos scale 4 (4 31y); Brook scale 2; CPK 744" "1y" "" "difficulty running, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159250" "05126" "00210685" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; ptosis, dysphagia; nocturnal ventilation; dizziness ataxia; Vignos scale 7 (4 20y); Brook scale 4; CPK 295" "20y" "" "difficulty running, difficulty rising from sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159251" "05126" "00210686" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; dizziness ataxia; Vignos scale 4 (4 25y); Brook scale 3" "1y" "" "difficulty running, difficulty rising from sitting, difficulty climbing stair" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159252" "05126" "00210687" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 3; Brook scale 2; CPK 210" "7y" "" "difficulty running or jumping , difficulty playing sports" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159253" "05126" "00210688" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy scapular-humeral/pelvic-femoral; hand atrophy/weakness, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 2; Brook scale 2; CPK 140" "1y" "" "early motor skills delayed, difficulty running or jumping, difficulty rising from lying or sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159254" "05126" "00210689" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 3; Brook scale 1" "1y" "" "early motor skills delayed, difficulty running or jumping, difficulty rising from lying or sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159255" "05126" "00210690" "00006" "Familial, autosomal dominant" "" "proximal weakness/atrophy pelvic-femoral; hand atrophy, lower leg weakness; no retractions/skeletal deformities; no ptosis, no dysphagia; no respiratory insuficiency; no dizziness ataxia; Vignos scale 3; Brook scale 1" "1y" "" "early motor skills delayed, difficulty running or jumping, difficulty rising from lying or sitting, difficulty climbing stairs" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159256" "05126" "00210691" "00006" "Familial, autosomal dominant" "" "" "" "" "" "WB TNPO3b increased molecular weight" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000159257" "05126" "00210692" "00006" "Isolated (sporadic)" "" "onset young adult; muscular histopathology dystrophic features, discrete mitochondrial alterations with sporadic ragged-red fibers,cytochrome c oxidase negative fibers" "" "" "" "" "" "" "" "" "LGMD-1F" "limb-girdle muscular dystrophy" "" "0000222935" "00198" "00289304" "01807" "Unknown" "" "Sensory neuropathy (HP:0000763)" "" "" "" "" "" "" "" "" "" "" "" "0000223419" "00198" "00295943" "01164" "Unknown" "" "Abnormality of the musculature (HP:0003011); Elevated serum creatine phosphokinase (HP:0003236); Myalgia (HP:0003326); Abnormal levels of creatine kinase in blood (HP:0040081)" "" "" "" "" "" "" "" "" "" "" "" "0000292085" "05618" "00398997" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292090" "05618" "00399002" "00006" "Unknown" "" "serum CK 2217 U/L; muscle biopsy dystrophic pattern" "18y" "" "" "" "" "" "" "" "" "limb-girdle muscular dytrophy" "" "0000321271" "05618" "00430474" "00006" "Unknown" "12y" "proximal weakness" "" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000326591" "04288" "00436410" "01164" "Unknown" "60y" "Myofibrillar myopathy" "" "" "" "" "" "" "" "" "" "" "" "0000328455" "05121" "00438552" "00006" "Unknown" "12y" "proximal weakness" "" "" "" "" "" "" "" "" "" "muscular dystrophy/myopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 111 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050526" "00050581" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000211717" "00210641" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211718" "00210642" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211719" "00210643" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211720" "00210644" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211721" "00210645" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211722" "00210646" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211723" "00210647" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211724" "00210648" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211725" "00210649" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000211726" "00210650" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211727" "00210651" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211728" "00210652" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211729" "00210653" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211730" "00210654" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211731" "00210655" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211732" "00210656" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211733" "00210657" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211734" "00210658" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211735" "00210659" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211736" "00210660" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211737" "00210661" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211738" "00210662" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211739" "00210663" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211740" "00210664" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211741" "00210665" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211742" "00210666" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211743" "00210667" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211744" "00210668" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211745" "00210669" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211746" "00210670" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211747" "00210671" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211748" "00210672" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211749" "00210673" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211750" "00210674" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211751" "00210675" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211752" "00210676" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211753" "00210677" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211754" "00210678" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211755" "00210679" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211756" "00210680" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211757" "00210681" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211758" "00210682" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211759" "00210683" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211760" "00210684" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211761" "00210685" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211762" "00210686" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211763" "00210687" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211764" "00210688" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211765" "00210689" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211766" "00210690" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "SEQ" "DNA" "" "" "0000211767" "00210691" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "arrayCGH;PCRdig;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000211768" "00210692" "1" "00006" "00006" "2013-06-12 22:39:47" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "" "0000220517" "00219446" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220643" "00219572" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220670" "00219599" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221081" "00220010" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221132" "00220061" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221135" "00220064" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221157" "00220086" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221222" "00220151" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221262" "00220191" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221270" "00220199" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221459" "00220388" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221485" "00220414" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221552" "00220481" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221584" "00220513" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221604" "00220533" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221652" "00220581" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221666" "00220595" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221783" "00220712" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221786" "00220715" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221797" "00220726" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221848" "00220777" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221996" "00220925" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222103" "00221032" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222192" "00221121" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222200" "00221129" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222315" "00221244" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222381" "00221310" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222440" "00221369" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222609" "00221538" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222613" "00221542" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222636" "00221565" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222664" "00221593" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222680" "00221609" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222714" "00221643" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222723" "00221652" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222815" "00221744" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222933" "00221862" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223018" "00221947" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223208" "00222137" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223246" "00222175" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223248" "00222177" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223293" "00222222" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223342" "00222271" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223344" "00222273" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223617" "00222546" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223681" "00222610" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223750" "00222679" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223768" "00222697" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223783" "00222712" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000290474" "00289304" "1" "01807" "01807" "2020-03-02 12:27:21" "" "" "SEQ" "DNA" "" "" "0000295493" "00294325" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297115" "00295943" "1" "01164" "01164" "2020-03-30 10:44:53" "" "" "SEQ-NG-S" "DNA" "" "" "0000306260" "00305131" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000400242" "00398997" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400247" "00399002" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000431883" "00430474" "1" "00006" "00006" "2023-01-20 11:39:52" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000437892" "00436410" "1" "01164" "01164" "2023-09-13 16:58:03" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000440034" "00438552" "1" "00006" "00006" "2023-10-21 14:47:26" "" "" "SEQ;SEQ-NG" "DNA" "" "47-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{geneid}}" "0000211717" "TNPO3" "0000211718" "TNPO3" "0000211719" "TNPO3" "0000211720" "TNPO3" "0000211721" "TNPO3" "0000211722" "TNPO3" "0000211723" "TNPO3" "0000211724" "TNPO3" "0000211725" "TNPO3" "0000211726" "TNPO3" "0000211727" "TNPO3" "0000211728" "TNPO3" "0000211729" "TNPO3" "0000211730" "TNPO3" "0000211731" "TNPO3" "0000211732" "TNPO3" "0000211733" "TNPO3" "0000211734" "TNPO3" "0000211735" "TNPO3" "0000211736" "TNPO3" "0000211737" "TNPO3" "0000211738" "TNPO3" "0000211739" "TNPO3" "0000211740" "TNPO3" "0000211741" "TNPO3" "0000211742" "TNPO3" "0000211743" "TNPO3" "0000211744" "TNPO3" "0000211745" "TNPO3" "0000211746" "TNPO3" "0000211747" "TNPO3" "0000211748" "TNPO3" "0000211749" "TNPO3" "0000211750" "TNPO3" "0000211751" "TNPO3" "0000211752" "TNPO3" "0000211753" "TNPO3" "0000211754" "TNPO3" "0000211755" "TNPO3" "0000211756" "TNPO3" "0000211757" "TNPO3" "0000211758" "TNPO3" "0000211759" "TNPO3" "0000211760" "TNPO3" "0000211761" "TNPO3" "0000211762" "TNPO3" "0000211763" "TNPO3" "0000211764" "TNPO3" "0000211765" "TNPO3" "0000211766" "TNPO3" "0000211767" "TNPO3" "0000211768" "TNPO3" "0000437892" "TNPO3" ## 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 = 138 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000079506" "0" "90" "7" "121000064" "135573959" "del" "0" "00006" "IMPDH1_000003" "g.121000064_135573959del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000246606" "0" "10" "7" "128616001" "128616001" "subst" "0.0275776" "02330" "TNPO3_000008" "g.128616001A>C" "" "" "" "TNPO3(NM_012470.4):c.2062-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128975947A>C" "" "benign" "" "0000246632" "0" "30" "7" "128612630" "128612630" "subst" "0.000645367" "02330" "TNPO3_000005" "g.128612630A>G" "" "" "" "TNPO3(NM_012470.4):c.2280T>C (p.I760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128972576A>G" "" "likely benign" "" "0000309363" "0" "10" "7" "128615897" "128615897" "subst" "0.00357526" "02330" "TNPO3_000007" "g.128615897C>A" "" "" "" "TNPO3(NM_012470.4):c.2154G>T (p.R718=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128975843C>A" "" "benign" "" "0000309364" "0" "10" "7" "128614990" "128614990" "subst" "0.0518673" "02330" "TNPO3_000006" "g.128614990G>A" "" "" "" "TNPO3(NM_012470.4):c.2205C>T (p.L735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128974936G>A" "" "benign" "" "0000309365" "0" "10" "7" "128612552" "128612552" "subst" "0.0525556" "02330" "TNPO3_000004" "g.128612552C>T" "" "" "" "TNPO3(NM_012470.4):c.2358G>A (p.L786=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128972498C>T" "" "benign" "" "0000309366" "0" "10" "7" "128607384" "128607384" "subst" "0.470313" "02330" "TNPO3_000017" "g.128607384G>A" "" "" "" "TNPO3(NM_012470.4):c.2661C>T (p.A887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128967330G>A" "" "benign" "" "0000309368" "0" "10" "7" "128657995" "128657995" "subst" "0.0307941" "02330" "TNPO3_000010" "g.128657995G>A" "" "" "" "TNPO3(NM_012470.4):c.321+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129017941G>A" "" "benign" "" "0000309369" "0" "10" "7" "128641226" "128641226" "subst" "0.408331" "02330" "TNPO3_000009" "g.128641226G>C" "" "" "" "TNPO3(NM_012470.4):c.759C>G (p.L253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129001172G>C" "" "benign" "" "0000342634" "0" "50" "7" "128640530" "128640530" "subst" "8.12473E-6" "02327" "TNPO3_000012" "g.128640530G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129000476G>A" "" "VUS" "" "0000343008" "0" "50" "7" "128630032" "128630032" "subst" "1.62619E-5" "02327" "TNPO3_000011" "g.128630032C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128989978C>T" "" "VUS" "" "0000345986" "0" "30" "7" "128640545" "128640545" "subst" "0" "02327" "TNPO3_000013" "g.128640545C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129000491C>T" "" "likely benign" "" "0000347457" "0" "90" "7" "128645198" "128645198" "subst" "0" "02327" "TNPO3_000014" "g.128645198T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.129005144T>A" "" "pathogenic" "" "0000443325" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2771delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443326" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2772delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443327" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2773delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443328" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2774delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443329" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2775delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443330" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2776delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443331" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2777delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443332" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2778delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443333" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2779delA" "linkage analysis, whole genome sequencing; no variants in FLNC" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443334" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2780delA" "muscle biopsy nuclear abnormalities" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443335" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2781delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443336" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2782delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443337" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2783delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443338" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2784delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443339" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2785delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443340" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2786delA" "muscle biopsy nuclear abnormalities" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443341" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2787delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443342" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2788delA" "muscle RNA normal expression level (1.2); muscle biopsy nuclear abnormalities" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443343" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2789delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443344" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2790delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443345" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2791delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443346" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2792delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443347" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2793delA" "muscle biopsy nuclear abnormalities" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443348" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2794delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443349" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2795delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443350" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2796delA" "muscle RNA normal expression level (1.3); muscle biopsy nuclear abnormalities" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443351" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2797delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443352" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2798delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443353" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2799delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443354" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2800delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443355" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2801delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443356" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2802delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443357" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2803delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443358" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2804delA" "muscle biopsy nuclear abnormalities; protein staining nucleus unevenly distributed, limited to periphery" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443359" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2805delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443360" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2806delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443361" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2807delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443362" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2808delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443363" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2809delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443364" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2810delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443365" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2811delA" "muscle biopsy nuclear abnormalities; protein staining nucleus unevenly distributed, limited to periphery" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443366" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2812delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443367" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2813delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443368" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2814delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443369" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2815delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443370" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2816delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443371" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2817delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443372" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2818delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443373" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2819delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443374" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Melia 2013:23543484}" "SfaNI+" "2820delA" "" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443375" "1" "90" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Torella 2013:23667635}" "AluI-" "2821delA" "linkage analysis, whole exome sequencing; reports the same family as {PMID23543484:Melia 2013}, family tree partly different; no variants FLNC" "Germline" "yes" "" "0" "" "" "g.128957256del" "" "pathogenic (dominant)" "" "0000443376" "1" "70" "7" "128610347" "128610347" "subst" "4.21464E-5" "00006" "TNPO3_000002" "g.128610347C>T" "1/64 LGMD1 cases" "{PMID:Torella 2013:23667635}" "AluI-" "G2453A (Arg818Pro)" "erroneous predicted protein variant description; variant not in 150 cases in house database; no mtDNA variants" "Unknown" "yes" "" "0" "" "" "g.128970293C>T" "" "likely pathogenic (dominant)" "" "0000466690" "1" "50" "7" "128612484" "128612484" "subst" "0" "00430" "TNPO3_000024" "g.128612484T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in TNPO3" "Germline" "" "" "0" "" "" "g.128972430T>C" "" "VUS" "" "0000466691" "1" "50" "7" "128610371" "128610371" "subst" "0" "00430" "TNPO3_000023" "g.128610371T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128970317T>G" "" "VUS" "" "0000466692" "1" "50" "7" "128657100" "128657100" "subst" "0" "00430" "TNPO3_000052" "g.128657100G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129017046G>A" "" "VUS" "" "0000466693" "1" "50" "7" "128615910" "128615910" "subst" "0" "00430" "TNPO3_000026" "g.128615910T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128975856T>A" "" "VUS" "" "0000466694" "1" "50" "7" "128630110" "128630110" "subst" "2.03229E-5" "00430" "TNPO3_000036" "g.128630110C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128990056C>T" "" "VUS" "" "0000466695" "1" "50" "7" "128641181" "128641181" "subst" "8.12348E-6" "00430" "TNPO3_000047" "g.128641181T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129001127T>C" "" "VUS" "" "0000466696" "1" "50" "7" "128597340" "128597340" "subst" "0.000670285" "00430" "TNPO3_000016" "g.128597340G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128957286G>A" "" "VUS" "" "0000466697" "1" "50" "7" "128641281" "128641281" "subst" "0" "00430" "TNPO3_000048" "g.128641281T>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129001227T>A" "" "VUS" "" "0000466698" "1" "50" "7" "128607434" "128607434" "subst" "0" "00430" "TNPO3_000019" "g.128607434A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128967380A>G" "" "VUS" "" "0000466699" "1" "50" "7" "128626924" "128626924" "subst" "0" "00430" "TNPO3_000034" "g.128626924A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128986870A>C" "" "VUS" "" "0000466700" "1" "50" "7" "128612584" "128612584" "subst" "8.53326E-5" "00430" "TNPO3_000025" "g.128612584T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in TNPO3" "Germline" "" "" "0" "" "" "g.128972530T>C" "" "VUS" "" "0000466701" "1" "50" "7" "128694781" "128694781" "subst" "0" "00430" "TNPO3_000053" "g.128694781A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129054727A>G" "" "VUS" "" "0000466702" "1" "50" "7" "128658057" "128658057" "subst" "0.000369738" "00430" "TNPO3_000015" "g.128658057G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129018003G>A" "" "VUS" "" "0000466703" "1" "50" "7" "128640560" "128640560" "subst" "4.06256E-6" "00430" "TNPO3_000044" "g.128640560A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129000506A>T" "" "VUS" "" "0000466704" "1" "50" "7" "128597340" "128597340" "subst" "0.000670285" "00430" "TNPO3_000016" "g.128597340G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128957286G>A" "" "VUS" "" "0000466705" "1" "50" "7" "128641128" "128641128" "subst" "0.000117954" "00430" "TNPO3_000046" "g.128641128C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129001074C>T" "" "VUS" "" "0000466706" "1" "50" "7" "128615972" "128615972" "subst" "9.75205E-5" "00430" "TNPO3_000027" "g.128615972G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128975918G>A" "" "VUS" "" "0000466707" "1" "50" "7" "128630146" "128630146" "subst" "2.43833E-5" "00430" "TNPO3_000037" "g.128630146T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128990092T>C" "" "VUS" "" "0000466708" "1" "50" "7" "128633942" "128633942" "subst" "0" "00430" "TNPO3_000039" "g.128633942G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128993888G>T" "" "VUS" "" "0000466709" "1" "50" "7" "128622351" "128622351" "subst" "4.06408E-6" "00430" "TNPO3_000029" "g.128622351T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128982297T>C" "" "VUS" "" "0000466710" "1" "50" "7" "128640551" "128640551" "subst" "0" "00430" "TNPO3_000043" "g.128640551C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129000497C>G" "" "VUS" "" "0000466711" "1" "50" "7" "128626837" "128626837" "subst" "3.66393E-5" "00430" "TNPO3_000031" "g.128626837G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128986783G>A" "" "VUS" "" "0000466712" "1" "50" "7" "128612584" "128612584" "subst" "8.53326E-5" "00430" "TNPO3_000025" "g.128612584T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128972530T>C" "" "VUS" "" "0000466713" "1" "50" "7" "128612584" "128612584" "subst" "8.53326E-5" "00430" "TNPO3_000025" "g.128612584T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.128972530T>C" "" "VUS" "" "0000466714" "1" "50" "7" "128694823" "128694823" "subst" "0" "00430" "TNPO3_000054" "g.128694823A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "M1T" "" "Germline" "" "" "0" "" "" "g.129054769A>G" "" "VUS" "" "0000466715" "1" "50" "7" "128610228" "128610228" "subst" "4.06144E-6" "00430" "TNPO3_000020" "g.128610228A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128970174A>G" "" "VUS" "" "0000466716" "1" "50" "7" "128619137" "128619137" "subst" "2.03113E-5" "00430" "TNPO3_000028" "g.128619137G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128979083G>A" "" "VUS" "" "0000466717" "1" "50" "7" "128645192" "128645192" "subst" "4.47529E-5" "00430" "TNPO3_000049" "g.128645192C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129005138C>G" "" "VUS" "" "0000466718" "1" "50" "7" "128626911" "128626911" "subst" "1.22368E-5" "00430" "TNPO3_000033" "g.128626911T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.128986857T>C" "" "VUS" "" "0000466719" "1" "50" "7" "128637496" "128637496" "subst" "2.03077E-5" "00430" "TNPO3_000040" "g.128637496T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.128997442T>C" "" "VUS" "" "0000466720" "1" "50" "7" "128640519" "128640519" "subst" "4.06227E-6" "00430" "TNPO3_000041" "g.128640519C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129000465C>G" "" "VUS" "" "0000466721" "1" "50" "7" "128612630" "128612630" "subst" "0.000645367" "00430" "TNPO3_000005" "g.128612630A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128972576A>G" "" "VUS" "" "0000466722" "1" "50" "7" "128626866" "128626866" "subst" "0" "00430" "TNPO3_000032" "g.128626866T>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128986812T>G" "" "VUS" "" "0000466723" "1" "50" "7" "128612630" "128612630" "subst" "0.000645367" "00430" "TNPO3_000005" "g.128612630A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128972576A>G" "" "VUS" "" "0000466724" "1" "50" "7" "128612630" "128612630" "subst" "0.000645367" "00430" "TNPO3_000005" "g.128612630A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128972576A>G" "" "VUS" "" "0000466725" "1" "50" "7" "128655107" "128655107" "subst" "4.08647E-6" "00430" "TNPO3_000050" "g.128655107G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129015053G>A" "" "VUS" "" "0000466726" "1" "50" "7" "128626942" "128626942" "subst" "4.10219E-6" "00430" "TNPO3_000035" "g.128626942A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128986888A>G" "" "VUS" "" "0000466727" "1" "50" "7" "128612630" "128612630" "subst" "0.000645367" "00430" "TNPO3_000005" "g.128612630A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128972576A>G" "" "VUS" "" "0000466728" "1" "50" "7" "128624222" "128624222" "subst" "0" "00430" "TNPO3_000030" "g.128624222C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128984168C>T" "" "VUS" "" "0000466729" "1" "50" "7" "128658057" "128658057" "subst" "0.000369738" "00430" "TNPO3_000015" "g.128658057G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129018003G>A" "" "VUS" "" "0000466730" "1" "50" "7" "128597340" "128597340" "subst" "0.000670285" "00430" "TNPO3_000016" "g.128597340G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128957286G>A" "" "VUS" "" "0000466731" "1" "50" "7" "128610348" "128610348" "subst" "8.50391E-6" "00430" "TNPO3_000022" "g.128610348G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.128970294G>A" "" "VUS" "" "0000466732" "1" "50" "7" "128597340" "128597340" "subst" "0.000670285" "00430" "TNPO3_000016" "g.128597340G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128957286G>A" "" "VUS" "" "0000466733" "1" "50" "7" "128640529" "128640529" "subst" "4.0622E-5" "00430" "TNPO3_000042" "g.128640529C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.129000475C>T" "" "VUS" "" "0000466734" "1" "50" "7" "128626837" "128626837" "subst" "3.66393E-5" "00430" "TNPO3_000031" "g.128626837G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128986783G>A" "" "VUS" "" "0000466735" "1" "50" "7" "128655148" "128655148" "subst" "0" "00430" "TNPO3_000051" "g.128655148A>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.129015094A>T" "" "VUS" "" "0000466736" "1" "50" "7" "128630148" "128630148" "subst" "0" "00430" "TNPO3_000038" "g.128630148G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128990094G>C" "" "VUS" "" "0000466737" "1" "50" "7" "128641123" "128641123" "subst" "4.06702E-6" "00430" "TNPO3_000045" "g.128641123C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129001069C>G" "" "VUS" "" "0000466738" "1" "50" "7" "128607383" "128607383" "subst" "4.06111E-5" "00430" "TNPO3_000018" "g.128607383C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.128967329C>T" "" "VUS" "" "0000466739" "1" "50" "7" "128640530" "128640530" "subst" "8.12473E-6" "00430" "TNPO3_000012" "g.128640530G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.129000476G>A" "" "VUS" "" "0000466740" "1" "50" "7" "128610258" "128610258" "del" "4.0622E-5" "00430" "TNPO3_000021" "g.128610258del" "" "{PMID:Nallamilli 2018:30564623}" "" "2542delT" "" "Germline" "" "" "0" "" "" "g.128970204del" "" "VUS" "" "0000530900" "0" "30" "7" "128610233" "128610233" "subst" "0" "02327" "TNPO3_000055" "g.128610233A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128970179A>T" "" "likely benign" "" "0000530903" "0" "50" "7" "128641272" "128641272" "subst" "1.2215E-5" "02327" "TNPO3_000058" "g.128641272G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129001218G>A" "" "VUS" "" "0000530904" "0" "50" "7" "128645152" "128645159" "delins" "0" "02327" "TNPO3_000059" "g.128645152_128645159delinsGAACAGAGA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129005098_129005105delinsGAACAGAGA" "" "VUS" "" "0000647143" "0" "70" "7" "128620024" "128620024" "subst" "0" "01807" "TNPO3_000060" "g.128620024C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.128979970C>T" "" "likely pathogenic" "" "0000652182" "1" "10" "7" "128657995" "128657995" "subst" "0.0307941" "03575" "TNPO3_000010" "g.128657995G>A" "254/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "254 heterozygous; {DB:CLININrs17424179}" "Germline" "" "rs17424179" "0" "" "" "g.129017941G>A" "" "benign" "" "0000659731" "0" "50" "7" "128641219" "128641219" "subst" "0" "01164" "TNPO3_000061" "g.128641219T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.129001165T>C" "" "VUS" "ACMG" "0000669948" "3" "10" "7" "128657995" "128657995" "subst" "0.0307941" "03575" "TNPO3_000010" "g.128657995G>A" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs17424179}" "Germline" "" "rs17424179" "0" "" "" "g.129017941G>A" "" "benign" "" "0000721284" "0" "50" "7" "128630047" "128630047" "subst" "0" "02329" "TNPO3_000057" "g.128630047C>G" "" "" "" "TNPO3(NM_012470.4):c.1466G>C (p.S489T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721285" "0" "50" "7" "128658057" "128658057" "subst" "0.000369738" "02329" "TNPO3_000015" "g.128658057G>A" "" "" "" "TNPO3(NM_012470.4):c.275C>T (p.T92I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802937" "0" "50" "7" "128626828" "128626828" "subst" "8.14452E-6" "02327" "TNPO3_000062" "g.128626828C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802938" "0" "50" "7" "128630030" "128630030" "subst" "0" "02329" "TNPO3_000063" "g.128630030T>C" "" "" "" "TNPO3(NM_012470.4):c.1483A>G (p.N495D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802939" "0" "50" "7" "128632119" "128632119" "subst" "1.6704E-5" "02329" "TNPO3_000064" "g.128632119T>C" "" "" "" "TNPO3(NM_012470.4):c.1292A>G (p.N431S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000833049" "1" "70" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.128957256del" "" "likely pathogenic" "" "0000833054" "1" "70" "7" "128597310" "128597310" "del" "0" "00006" "TNPO3_000001" "g.128597310del" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.128957256del" "" "likely pathogenic" "" "0000887669" "0" "50" "7" "128612499" "128612499" "subst" "0" "02327" "TNPO3_000065" "g.128612499T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000917173" "0" "50" "7" "128632140" "128632140" "subst" "8.65366E-6" "00006" "TNPO3_000066" "g.128632140T>C" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline" "" "rs369968030" "0" "" "" "g.128992086T>C" "" "VUS" "" "0000933336" "0" "50" "7" "128597337" "128597338" "ins" "0" "01164" "TNPO3_000067" "g.128597337_128597338insGAAGACTCGCA" "" "" "" "" "ACMG: PVS1_Str, PM2_Sup; at least 3 LoF variants (stop-gain and fs extending the stop-codon) are described as pathogenic, possible late truncating pathmechnism" "Germline" "?" "" "0" "" "" "g.128957283_128957284insGAAGACTCGCA" "" "VUS (!)" "ACMG" "0000936178" "0" "50" "7" "128632140" "128632140" "subst" "8.65366E-6" "00006" "TNPO3_000066" "g.128632140T>C" "" "{PMID:Cavdarli 2023:36575883}" "" "" "" "Germline/De novo (untested)" "" "rs369968030" "0" "" "" "g.128992086T>C" "" "VUS" "" "0000977528" "0" "50" "7" "128610312" "128610312" "subst" "0" "01804" "TNPO3_000068" "g.128610312C>A" "" "" "" "TNPO3(NM_012470.4):c.2488G>T (p.(Gly830Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025348" "0" "50" "7" "128637465" "128637465" "subst" "0" "02325" "TNPO3_000069" "g.128637465T>C" "" "" "" "TNPO3(NM_012470.4):c.1136A>G (p.H379R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052841" "0" "50" "7" "128624293" "128624293" "subst" "8.25055E-6" "01804" "TNPO3_000070" "g.128624293G>A" "" "" "" "TNPO3(NM_012470.4):c.1711C>T (p.(Arg571*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052842" "0" "50" "7" "128645158" "128645158" "subst" "8.12678E-6" "01804" "TNPO3_000071" "g.128645158C>T" "" "" "" "TNPO3(NM_012470.4):c.608G>A (p.(Arg203His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes TNPO3 ## Count = 138 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000079506" "00021604" "00" "-6879135" "0" "7598179" "0" "c.-6879135_*7595407del" "r.0?" "p.0?" "" "0000246606" "00021604" "10" "2062" "-12" "2062" "-12" "c.2062-12T>G" "r.(=)" "p.(=)" "" "0000246632" "00021604" "30" "2280" "0" "2280" "0" "c.2280T>C" "r.(?)" "p.(Ile760=)" "" "0000309363" "00021604" "10" "2154" "0" "2154" "0" "c.2154G>T" "r.(?)" "p.(Arg718=)" "" "0000309364" "00021604" "10" "2205" "0" "2205" "0" "c.2205C>T" "r.(?)" "p.(Leu735=)" "" "0000309365" "00021604" "10" "2358" "0" "2358" "0" "c.2358G>A" "r.(?)" "p.(Leu786=)" "" "0000309366" "00021604" "10" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Ala887=)" "" "0000309368" "00021604" "10" "321" "16" "321" "16" "c.321+16C>T" "r.(=)" "p.(=)" "" "0000309369" "00021604" "10" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Leu253=)" "" "0000342634" "00021604" "50" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Ter)" "" "0000343008" "00021604" "50" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.(Arg494Gln)" "" "0000345986" "00021604" "30" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Gly317Ser)" "" "0000347457" "00021604" "90" "568" "0" "568" "0" "c.568A>T" "r.(?)" "p.(Lys190Ter)" "" "0000443325" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443326" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443327" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443328" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443329" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443330" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443331" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443332" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443333" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443334" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443335" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443336" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443337" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443338" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443339" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443340" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443341" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443342" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.2771del" "p.*924Cysfsext*15" "22" "0000443343" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443344" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443345" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443346" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443347" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443348" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443349" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443350" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.2771del" "p.*924Cysfsext*15" "22" "0000443351" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443352" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443353" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443354" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443355" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443356" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443357" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443358" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443359" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443360" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443361" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443362" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443363" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443364" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443365" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443366" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443367" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443368" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443369" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443370" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443371" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443372" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443373" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443374" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(*924Cysfsext*15)" "22" "0000443375" "00021604" "90" "2771" "0" "2771" "0" "c.2771del" "r.2771del" "p.*924Cysfsext*15" "22" "0000443376" "00021604" "70" "2453" "0" "2453" "0" "c.2453G>A" "r.(?)" "p.(Arg818Gln)" "20" "0000466690" "00021604" "50" "2426" "0" "2426" "0" "c.2426A>G" "r.(?)" "p.(Asn809Ser)" "19" "0000466691" "00021604" "50" "2431" "-2" "2431" "-2" "c.2431-2A>C" "r.spl" "p.?" "19i" "0000466692" "00021604" "50" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Ala111Val)" "3" "0000466693" "00021604" "50" "2141" "0" "2141" "0" "c.2141A>T" "r.(?)" "p.(Glu714Val)" "17" "0000466694" "00021604" "50" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Arg468His)" "11" "0000466695" "00021604" "50" "804" "0" "804" "0" "c.804A>G" "r.(?)" "p.(=)" "6" "0000466696" "00021604" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Ala914Val)" "22" "0000466697" "00021604" "50" "704" "0" "704" "0" "c.704A>T" "r.(?)" "p.(Asp235Val)" "6" "0000466698" "00021604" "50" "2611" "0" "2611" "0" "c.2611T>C" "r.(?)" "p.(Trp871Arg)" "21" "0000466699" "00021604" "50" "1549" "0" "1549" "0" "c.1549T>G" "r.(?)" "p.(Ser517Ala)" "12" "0000466700" "00021604" "50" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "19" "0000466701" "00021604" "50" "44" "0" "44" "0" "c.44T>C" "r.(?)" "p.(Val15Ala)" "1" "0000466702" "00021604" "50" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Thr92Ile)" "2" "0000466703" "00021604" "50" "934" "0" "934" "0" "c.934T>A" "r.(?)" "p.(Cys312Ser)" "7" "0000466704" "00021604" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Ala914Val)" "22" "0000466705" "00021604" "50" "857" "0" "857" "0" "c.857G>A" "r.(?)" "p.(Arg286His)" "6" "0000466706" "00021604" "50" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(=)" "17" "0000466707" "00021604" "50" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Asn456Ser)" "" "0000466708" "00021604" "50" "1185" "0" "1185" "0" "c.1185C>A" "r.(?)" "p.(Asp395Glu)" "9" "0000466709" "00021604" "50" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Ile604Val)" "14" "0000466710" "00021604" "50" "943" "0" "943" "0" "c.943G>C" "r.(?)" "p.(Gly315Arg)" "7" "0000466711" "00021604" "50" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546Cys)" "12" "0000466712" "00021604" "50" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "19" "0000466713" "00021604" "50" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "19" "0000466714" "00021604" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1" "0000466715" "00021604" "50" "2572" "0" "2572" "0" "c.2572T>C" "r.(?)" "p.(Trp858Arg)" "20" "0000466716" "00021604" "50" "1961" "0" "1961" "0" "c.1961C>T" "r.(?)" "p.(Ala654Val)" "16" "0000466717" "00021604" "50" "574" "0" "574" "0" "c.574G>C" "r.(?)" "p.(Gly192Arg)" "5" "0000466718" "00021604" "50" "1562" "0" "1562" "0" "c.1562A>G" "r.(?)" "p.(Lys521Arg)" "12" "0000466719" "00021604" "50" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Ile369Val)" "8" "0000466720" "00021604" "50" "975" "0" "975" "0" "c.975G>C" "r.(?)" "p.(Glu325Asp)" "7" "0000466721" "00021604" "50" "2280" "0" "2280" "0" "c.2280T>C" "r.(?)" "p.(=)" "19" "0000466722" "00021604" "50" "1607" "0" "1607" "0" "c.1607A>C" "r.(?)" "p.(Gln536Pro)" "12" "0000466723" "00021604" "50" "2280" "0" "2280" "0" "c.2280T>C" "r.(?)" "p.(=)" "19" "0000466724" "00021604" "50" "2280" "0" "2280" "0" "c.2280T>C" "r.(?)" "p.(=)" "19" "0000466725" "00021604" "50" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160*)" "4" "0000466726" "00021604" "50" "1531" "0" "1531" "0" "c.1531T>C" "r.(?)" "p.(Cys511Arg)" "12" "0000466727" "00021604" "50" "2280" "0" "2280" "0" "c.2280T>C" "r.(?)" "p.(=)" "19" "0000466728" "00021604" "50" "1782" "0" "1782" "0" "c.1782G>A" "r.(?)" "p.(=)" "13" "0000466729" "00021604" "50" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Thr92Ile)" "2" "0000466730" "00021604" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Ala914Val)" "22" "0000466731" "00021604" "50" "2452" "0" "2452" "0" "c.2452C>T" "r.(?)" "p.(Arg818Trp)" "20" "0000466732" "00021604" "50" "2741" "0" "2741" "0" "c.2741C>T" "r.(?)" "p.(Ala914Val)" "22" "0000466733" "00021604" "50" "965" "0" "965" "0" "c.965G>A" "r.(?)" "p.(Arg322Gln)" "7" "0000466734" "00021604" "50" "1636" "0" "1636" "0" "c.1636C>T" "r.(?)" "p.(Arg546Cys)" "12" "0000466735" "00021604" "50" "437" "0" "437" "0" "c.437T>A" "r.(?)" "p.(Ile146Asn)" "4" "0000466736" "00021604" "50" "1365" "0" "1365" "0" "c.1365C>G" "r.(?)" "p.(Asn455Lys)" "11" "0000466737" "00021604" "50" "862" "0" "862" "0" "c.862G>C" "r.(?)" "p.(Asp288His)" "6" "0000466738" "00021604" "50" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Val888Ile)" "21" "0000466739" "00021604" "50" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322*)" "7" "0000466740" "00021604" "50" "2542" "0" "2542" "0" "c.2542del" "r.(?)" "p.(Tyr848Ilefs*25)" "20" "0000530900" "00021604" "30" "2567" "0" "2567" "0" "c.2567T>A" "r.(?)" "p.(Val856Glu)" "" "0000530903" "00021604" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Ser238Leu)" "" "0000530904" "00021604" "50" "607" "0" "614" "0" "c.607_614delinsTCTCTGTTC" "r.(?)" "p.(Arg203SerfsTer8)" "" "0000647143" "00021604" "70" "1920" "1" "1920" "1" "c.1920+1G>A" "r.spl" "p.?" "" "0000652182" "00021604" "10" "321" "16" "321" "16" "c.321+16C>T" "r.(=)" "p.(=)" "" "0000659731" "00021604" "50" "766" "0" "766" "0" "c.766A>G" "r.(?)" "p.(Ile256Val)" "" "0000669948" "00021604" "10" "321" "16" "321" "16" "c.321+16C>T" "r.(=)" "p.(=)" "" "0000721284" "00021604" "50" "1466" "0" "1466" "0" "c.1466G>C" "r.(?)" "p.(Ser489Thr)" "" "0000721285" "00021604" "50" "275" "0" "275" "0" "c.275C>T" "r.(?)" "p.(Thr92Ile)" "" "0000802937" "00021604" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Asp549Asn)" "" "0000802938" "00021604" "50" "1483" "0" "1483" "0" "c.1483A>G" "r.(?)" "p.(Asn495Asp)" "" "0000802939" "00021604" "50" "1292" "0" "1292" "0" "c.1292A>G" "r.(?)" "p.(Asn431Ser)" "" "0000833049" "00021604" "70" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(Ter924CysextTer15)" "" "0000833054" "00021604" "70" "2771" "0" "2771" "0" "c.2771del" "r.(?)" "p.(Ter924CysextTer15)" "" "0000887669" "00021604" "50" "2411" "0" "2411" "0" "c.2411A>G" "r.(?)" "p.(His804Arg)" "" "0000917173" "00021604" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Tyr424Cys)" "" "0000933336" "00021604" "50" "2749" "0" "2750" "0" "c.2749_2750insTCTTCTGCGAG" "r.(?)" "p.(Asp917Valfs*27)" "22" "0000936178" "00021604" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Tyr424Cys)" "" "0000977528" "00021604" "50" "2488" "0" "2488" "0" "c.2488G>T" "r.(?)" "p.(Gly830*)" "" "0001025348" "00021604" "50" "1136" "0" "1136" "0" "c.1136A>G" "r.(?)" "p.(His379Arg)" "" "0001052841" "00021604" "50" "1711" "0" "1711" "0" "c.1711C>T" "r.(?)" "p.(Arg571*)" "" "0001052842" "00021604" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 113 "{{screeningid}}" "{{variantid}}" "0000050526" "0000079506" "0000211717" "0000443325" "0000211718" "0000443326" "0000211719" "0000443327" "0000211720" "0000443328" "0000211721" "0000443329" "0000211722" "0000443330" "0000211723" "0000443331" "0000211724" "0000443332" "0000211725" "0000443333" "0000211726" "0000443334" "0000211727" "0000443335" "0000211728" "0000443336" "0000211729" "0000443337" "0000211730" "0000443338" "0000211731" "0000443339" "0000211732" "0000443340" "0000211733" "0000443341" "0000211734" "0000443342" "0000211735" "0000443343" "0000211736" "0000443344" "0000211737" "0000443345" "0000211738" "0000443346" "0000211739" "0000443347" "0000211740" "0000443348" "0000211741" "0000443349" "0000211742" "0000443350" "0000211743" "0000443351" "0000211744" "0000443352" "0000211745" "0000443353" "0000211746" "0000443354" "0000211747" "0000443355" "0000211748" "0000443356" "0000211749" "0000443357" "0000211750" "0000443358" "0000211751" "0000443359" "0000211752" "0000443360" "0000211753" "0000443361" "0000211754" "0000443362" "0000211755" "0000443363" "0000211756" "0000443364" "0000211757" "0000443365" "0000211758" "0000443366" "0000211759" "0000443367" "0000211760" "0000443368" "0000211761" "0000443369" "0000211762" "0000443370" "0000211763" "0000443371" "0000211764" "0000443372" "0000211765" "0000443373" "0000211766" "0000443374" "0000211767" "0000443375" "0000211768" "0000443376" "0000220517" "0000466690" "0000220643" "0000466691" "0000220670" "0000466692" "0000221081" "0000466693" "0000221132" "0000466694" "0000221132" "0000466695" "0000221135" "0000466696" "0000221135" "0000466697" "0000221157" "0000466698" "0000221222" "0000466699" "0000221262" "0000466700" "0000221270" "0000466701" "0000221459" "0000466702" "0000221485" "0000466703" "0000221552" "0000466704" "0000221584" "0000466705" "0000221604" "0000466706" "0000221652" "0000466707" "0000221666" "0000466708" "0000221783" "0000466709" "0000221786" "0000466710" "0000221797" "0000466711" "0000221848" "0000466712" "0000221996" "0000466713" "0000222103" "0000466714" "0000222192" "0000466715" "0000222200" "0000466716" "0000222315" "0000466717" "0000222381" "0000466718" "0000222440" "0000466719" "0000222609" "0000466720" "0000222613" "0000466721" "0000222636" "0000466722" "0000222664" "0000466723" "0000222680" "0000466724" "0000222714" "0000466725" "0000222723" "0000466726" "0000222815" "0000466727" "0000222933" "0000466728" "0000223018" "0000466729" "0000223208" "0000466730" "0000223246" "0000466731" "0000223248" "0000466732" "0000223293" "0000466733" "0000223342" "0000466734" "0000223344" "0000466735" "0000223617" "0000466736" "0000223681" "0000466737" "0000223750" "0000466738" "0000223768" "0000466739" "0000223783" "0000466740" "0000290474" "0000647143" "0000295493" "0000652182" "0000297115" "0000659731" "0000306260" "0000669948" "0000400242" "0000833049" "0000400247" "0000833054" "0000431883" "0000917173" "0000437892" "0000933336" "0000440034" "0000936178"