### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM43) # 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}}" "TMEM43" "transmembrane protein 43" "3" "p25.1" "unknown" "LRG_435" "UD_132084463537" "" "https://www.LOVD.nl/TMEM43" "ARVD/C genetic variants database " "1" "28472" "79188" "612048" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/TMEM43_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-01-23 00:00:00" "00006" "2018-12-23 12:04:28" "00000" "2025-06-24 11:11:03" ## 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}}" "00021284" "TMEM43" "transmembrane protein 43" "001" "NM_024334.2" "" "NP_077310.1" "" "" "" "-254" "3088" "1203" "14166440" "14185180" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00229" "PWS" "Prader-Willi syndrome (PWS)" "AD" "176270" "" "" "" "00006" "2013-10-09 19:21:42" "00006" "2021-12-10 21:51:32" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00900" "CCHS" "hypoventilation, central, syndrome, congenital, with/without Hirschsprung disease (CCHS1)" "AD" "209880" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02509" "ARVD5" "dysplasia, ventricular, right, arrhythmogenic, type 5 (ARVD-5)" "AD" "604400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02974" "NLSDM" "lipid, neutral, storage disease with myopathy (NLSDM)" "AR" "610717" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03599" "EDMD7" "dystrophy, muscular, Emery-Dreifuss, type 7, autosomal dominant (EDMD-7)" "AD" "614302" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05099" "ARVD/C" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "" "" "" "" "00006" "2015-10-31 14:39:33" "00006" "2018-12-23 15:01:47" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TMEM43" "02509" "TMEM43" "03599" ## Individuals ## Do not remove or alter this header ## ## Count = 71 "{{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}}" "00058466" "" "" "" "2" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "4-generation family, 2 affecteds" "M" "" "Netherlands" "" "0" "" "" "" "" "00064074" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064098" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064163" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00128449" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "212" "00128453" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "226" "00208764" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00209945" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209946" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209947" "" "" "" "114" "" "00802" "{PMID:Merner:18313022}" "Modified TFC (Hamid et al. JACC 2002); 15 families from Newfoundland, Canada" "" "" "" "" "0" "" "" "" "" "00209948" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209949" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209950" "" "" "" "1" "" "00802" "" "Found once in 150 patients" "" "" "" "" "0" "" "" "" "" "00209951" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209952" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209953" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209954" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209955" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209956" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209957" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209958" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209959" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209960" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209961" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209962" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209963" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209964" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209965" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209966" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209967" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209968" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209969" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209970" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209971" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209972" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209973" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209974" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209975" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209976" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209977" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209978" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209979" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209980" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209981" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209982" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209983" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209984" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209985" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209986" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00293226" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293227" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293228" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293229" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293230" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293231" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293232" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293233" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295306" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295584" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00305397" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "159405" "00305399" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "130504" "00305400" "" "" "" "1" "" "01164" "" "" "F" "?" "" "" "0" "" "" "" "137849" "00305401" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "148083" "00305402" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "155722" "00316899" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317897" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317898" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00374892" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3945" "00391963" "" "" "" "1" "" "03501" "{PMID:Karthikeyan 2024:39548682}" "" "M" "yes" "India" "" "0" "yes" "" "" "MDCRC/0810/DBI-721" "00453126" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam42Pat78" "00453144" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam287Pat307" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 70 "{{individualid}}" "{{diseaseid}}" "00058466" "00352" "00064074" "00351" "00064098" "00351" "00064163" "00351" "00128449" "00198" "00128453" "00198" "00209945" "00198" "00209946" "00198" "00209947" "05099" "00209948" "00198" "00209949" "00198" "00209950" "00198" "00209951" "00198" "00209952" "00198" "00209953" "00198" "00209954" "00198" "00209955" "00198" "00209956" "00198" "00209957" "00198" "00209958" "00198" "00209959" "00198" "00209960" "00198" "00209961" "00198" "00209962" "00198" "00209963" "00198" "00209964" "00198" "00209965" "00198" "00209966" "00198" "00209967" "00198" "00209968" "00198" "00209969" "00198" "00209970" "00198" "00209971" "00198" "00209972" "00198" "00209973" "00198" "00209974" "00198" "00209975" "00198" "00209976" "00198" "00209977" "00198" "00209978" "00198" "00209979" "00198" "00209980" "00198" "00209981" "00198" "00209982" "00198" "00209983" "00198" "00209984" "00198" "00209985" "00198" "00209986" "00198" "00293226" "00198" "00293227" "00198" "00293228" "00198" "00293229" "00198" "00293230" "00198" "00293231" "00198" "00293232" "00198" "00293233" "00198" "00295306" "00198" "00295584" "00198" "00305397" "05521" "00305399" "00229" "00305400" "00900" "00305401" "00000" "00305402" "02974" "00316899" "04172" "00317897" "04172" "00317898" "04172" "00374892" "00198" "00391963" "05324" "00453126" "04172" "00453144" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00229, 00351, 00352, 00900, 02509, 02974, 03599, 04172, 05099, 05324, 05521 ## Count = 62 "{{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}}" "0000045097" "00352" "00058466" "00006" "Unknown" "" "mild DCM, 1 case peripartum cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000050590" "00351" "00064074" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050614" "00351" "00064098" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050679" "00351" "00064163" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100668" "00198" "00128449" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100673" "00198" "00128453" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000157382" "00198" "00208764" "01164" "Unknown" "" "HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "" "" "0000158544" "00198" "00209945" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158545" "00198" "00209946" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158546" "05099" "00209947" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-5" "ARVD/C" "" "0000158547" "00198" "00209948" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158548" "00198" "00209949" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158549" "00198" "00209950" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158550" "00198" "00209951" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158551" "00198" "00209952" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158552" "00198" "00209953" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158553" "00198" "00209954" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158554" "00198" "00209955" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158555" "00198" "00209956" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158556" "00198" "00209957" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158557" "00198" "00209958" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158558" "00198" "00209959" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158559" "00198" "00209960" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158560" "00198" "00209961" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158561" "00198" "00209962" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158562" "00198" "00209963" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158563" "00198" "00209964" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158564" "00198" "00209965" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158565" "00198" "00209966" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158566" "00198" "00209967" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158567" "00198" "00209968" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158568" "00198" "00209969" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158569" "00198" "00209970" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158570" "00198" "00209971" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158571" "00198" "00209972" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158572" "00198" "00209973" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158573" "00198" "00209974" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158574" "00198" "00209975" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158575" "00198" "00209976" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158576" "00198" "00209977" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158577" "00198" "00209978" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158578" "00198" "00209979" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158579" "00198" "00209980" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158580" "00198" "00209981" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158581" "00198" "00209982" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158582" "00198" "00209983" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158583" "00198" "00209984" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158584" "00198" "00209985" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158585" "00198" "00209986" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000223149" "00198" "00295584" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Abnormality of the curvature of the vertebral column (HP:0010674); Abnormality of monovalent inorganic cation homeostasis (HP:0010930); Abnormality of the renal pelvis (HP:0010944); Abnormal renal physiology (HP:0012211); Abnormal eye physiology (HP:0012373); Intellectual disability (HP:0001249); Hydronephrosis (HP:0000126); Abnormality of nervous system physiology (HP:0012638); Sleep disturbance (HP:0002360); Scoliosis (HP:0002650); Hyponatremia (HP:0002902); Abnormality of the middle ear (HP:0000370); Conductive hearing impairment (HP:0000405); Amblyopia (HP:0000646); Abnormality of the ureter (HP:0000069); Sleep-wake cycle disturbance (HP:0006979); Vesicoureteral reflux (HP:0000076); Renal insufficiency (HP:0000083); Congenital megaureter (HP:0008676)" "" "" "" "" "" "" "" "" "" "" "" "0000231247" "05521" "00305397" "01164" "Unknown" "" "hereditary epilepsy, positive family history (uncle and cousin)" "" "" "" "" "" "" "" "" "" "" "" "0000231248" "00229" "00305399" "01164" "Unknown" "" "Makrosomie, Adipositas" "" "" "" "" "" "" "" "" "" "" "" "0000231249" "00900" "00305400" "01164" "Unknown" "13y" "Central hypoventilation syndrome, cryptogenic epilepsy, combined developmental delay, chronic epilepsy hypoxaemia (drumstick finger); behavioural abnormalities, resuscitation, tracheotomized and nocturnal home respiration" "" "" "" "" "" "" "" "" "" "" "" "0000231250" "00000" "00305401" "01164" "Unknown" "" "healthy pregnant individual; prenatal ultrasound abnormality in fetus" "" "" "" "" "" "" "" "" "" "" "" "0000231251" "02974" "00305402" "01164" "Unknown" "" "cerebrotendinous xanthomatosis in juvenile cataract and activity and attention deficit disorder" "" "" "" "" "" "" "" "" "" "" "" "0000240645" "04172" "00316899" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241643" "04172" "00317897" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241644" "04172" "00317898" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000270102" "00198" "00374892" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "ARVC, type 5" "" "0000285253" "05324" "00391963" "03501" "Unknown" "25y" "delayed fine motor development (HP:0010862), calf muscle hypertrophy (HP:0008981), frequent falls (HP:0002359); scoliosis; 11y-loss ambulation; too lean" "03y" "15y" "" "" "" "" "" "" "" "DMD" "" "0000341772" "04172" "00453126" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341790" "04172" "00453144" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 71 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058429" "00058466" "1" "00006" "00006" "2014-03-29 23:50:36" "00006" "2016-01-27 00:03:53" "SEQ-NG-I" "DNA" "" "" "0000064207" "00064074" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064231" "00064098" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064296" "00064163" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000129287" "00128449" "1" "02244" "02244" "2017-09-15 17:35:23" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129291" "00128453" "1" "02244" "02244" "2017-09-15 17:49:43" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000209813" "00208764" "1" "01164" "01164" "2018-12-14 14:03:50" "" "" "SEQ-NG" "DNA" "" "" "0000211002" "00209945" "1" "00802" "00802" "2009-02-25 10:48:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211003" "00209946" "1" "00802" "00802" "2009-02-25 10:58:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211004" "00209947" "1" "00802" "00802" "2009-02-25 11:04:09" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211005" "00209948" "1" "00802" "00802" "2009-02-25 11:08:42" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211006" "00209949" "1" "00802" "00802" "2009-07-28 13:13:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211007" "00209950" "1" "00802" "00802" "2009-07-28 13:15:15" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211008" "00209951" "1" "00802" "00802" "2009-07-28 13:17:47" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211009" "00209952" "1" "00802" "00802" "2009-07-28 13:19:16" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211010" "00209953" "1" "00802" "00802" "2009-07-28 13:20:52" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000211011" "00209954" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211012" "00209955" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211013" "00209956" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211014" "00209957" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211015" "00209958" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211016" "00209959" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211017" "00209960" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211018" "00209961" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211019" "00209962" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211020" "00209963" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211021" "00209964" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211022" "00209965" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211023" "00209966" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211024" "00209967" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211025" "00209968" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211026" "00209969" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211027" "00209970" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211028" "00209971" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211029" "00209972" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211030" "00209973" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211031" "00209974" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211032" "00209975" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211033" "00209976" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211034" "00209977" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211035" "00209978" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211036" "00209979" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211037" "00209980" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211038" "00209981" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211039" "00209982" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211040" "00209983" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211041" "00209984" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211042" "00209985" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000211043" "00209986" "1" "00802" "00802" "2014-10-15 16:47:52" "" "" "SEQ" "DNA" "" "" "0000294394" "00293226" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294395" "00293227" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294396" "00293228" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294397" "00293229" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294398" "00293230" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294399" "00293231" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294400" "00293232" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294401" "00293233" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296474" "00295306" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296754" "00295584" "1" "01164" "01164" "2020-03-18 10:49:05" "" "" "SEQ-NG-S" "DNA" "" "" "0000306526" "00305397" "1" "01164" "01164" "2020-06-24 16:29:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000306528" "00305399" "1" "01164" "01164" "2020-06-24 16:38:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000306529" "00305400" "1" "01164" "01164" "2020-06-24 16:41:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000306530" "00305401" "1" "01164" "01164" "2020-06-24 16:44:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000306531" "00305402" "1" "01164" "01164" "2020-06-24 16:49:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000318081" "00316899" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319079" "00317897" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319080" "00317898" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000376086" "00374892" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393205" "00391963" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, TMEM43, SYNE1, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" "0000454737" "00453126" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454755" "00453144" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 57 "{{screeningid}}" "{{geneid}}" "0000058429" "MYBPC3" "0000058429" "TMEM43" "0000058429" "TTN" "0000064207" "TTN" "0000064231" "TTN" "0000064296" "TTN" "0000211002" "TMEM43" "0000211003" "TMEM43" "0000211004" "TMEM43" "0000211005" "TMEM43" "0000211006" "TMEM43" "0000211007" "TMEM43" "0000211008" "TMEM43" "0000211009" "TMEM43" "0000211010" "TMEM43" "0000211011" "TMEM43" "0000211012" "TMEM43" "0000211013" "TMEM43" "0000211014" "TMEM43" "0000211015" "TMEM43" "0000211016" "TMEM43" "0000211017" "TMEM43" "0000211018" "TMEM43" "0000211019" "TMEM43" "0000211020" "TMEM43" "0000211021" "TMEM43" "0000211022" "TMEM43" "0000211023" "TMEM43" "0000211024" "TMEM43" "0000211025" "TMEM43" "0000211026" "TMEM43" "0000211027" "TMEM43" "0000211028" "TMEM43" "0000211029" "TMEM43" "0000211030" "TMEM43" "0000211031" "TMEM43" "0000211032" "TMEM43" "0000211033" "TMEM43" "0000211034" "TMEM43" "0000211035" "TMEM43" "0000211036" "TMEM43" "0000211037" "TMEM43" "0000211038" "TMEM43" "0000211039" "TMEM43" "0000211040" "TMEM43" "0000211041" "TMEM43" "0000211042" "TMEM43" "0000211043" "TMEM43" "0000306526" "TMEM43" "0000306528" "TMEM43" "0000306529" "TMEM43" "0000306530" "TMEM43" "0000306531" "TMEM43" "0000318081" "TMEM43" "0000319079" "TMEM43" "0000319080" "TMEM43" "0000376086" "TMEM43" ## 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 = 361 "{{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}}" "0000089001" "0" "50" "3" "14180731" "14180731" "subst" "0.00984844" "00006" "TMEM43_000020" "g.14180731C>T" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "" "" "Germline" "" "" "0" "" "" "g.14139231C>T" "" "VUS" "" "0000095208" "0" "50" "3" "14170990" "14170990" "subst" "0.000101553" "00006" "TMEM43_000071" "g.14170990G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024334:c.G91A" "" "Germline" "" "" "0" "" "" "g.14129490G>A" "" "VUS" "" "0000095294" "0" "50" "3" "14172319" "14172319" "del" "0" "00006" "TMEM43_000072" "g.14172319del" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024334:c.163-3C>-" "" "Germline" "" "" "0" "" "" "g.14130819del" "" "VUS" "" "0000095537" "0" "50" "3" "14172319" "14172319" "del" "0" "00006" "TMEM43_000072" "g.14172319del" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024334:c.163-3C>-" "" "Germline" "" "" "0" "" "" "g.14130819del" "" "VUS" "" "0000218443" "0" "50" "3" "14173129" "14173129" "subst" "7.71956E-5" "02244" "TMEM43_000076" "g.14173129G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.14131629G>A" "" "VUS" "" "0000218450" "0" "50" "3" "14177391" "14177391" "subst" "8.16213E-5" "02244" "TMEM43_000078" "g.14177391G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.14135891G>A" "" "VUS" "" "0000246096" "0" "10" "3" "14174427" "14174427" "subst" "0.325088" "02330" "TMEM43_000011" "g.14174427A>T" "" "" "" "TMEM43(NM_024334.2):c.504A>T (p.K168N), TMEM43(NM_024334.3):c.504A>T (p.K168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132927A>T" "" "benign" "" "0000246105" "0" "10" "3" "14176384" "14176384" "subst" "0.00149117" "02330" "TMEM43_000015" "g.14176384A>G" "" "" "" "TMEM43(NM_024334.2):c.698A>G (p.Y233C), TMEM43(NM_024334.3):c.698A>G (p.Y233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14134884A>G" "" "benign" "" "0000246155" "0" "10" "3" "14177425" "14177425" "subst" "4.91071E-5" "02330" "TMEM43_000074" "g.14177425A>G" "" "" "" "TMEM43(NM_024334.2):c.882+17A>G, TMEM43(NM_024334.3):c.882+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135925A>G" "" "benign" "" "0000246173" "0" "50" "3" "14171020" "14171020" "subst" "4.87706E-5" "02330" "TMEM43_000030" "g.14171020A>G" "" "" "" "TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129520A>G" "" "VUS" "" "0000247841" "0" "10" "3" "14174427" "14174427" "subst" "0.325088" "02325" "TMEM43_000011" "g.14174427A>T" "" "" "" "TMEM43(NM_024334.2):c.504A>T (p.K168N), TMEM43(NM_024334.3):c.504A>T (p.K168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132927A>T" "" "benign" "" "0000249430" "0" "30" "3" "14180690" "14180690" "subst" "4.06118E-6" "02325" "TMEM43_000075" "g.14180690A>G" "" "" "" "TMEM43(NM_024334.3):c.893A>G (p.H298R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139190A>G" "" "likely benign" "" "0000250623" "0" "10" "3" "14174427" "14174427" "subst" "0.325088" "02326" "TMEM43_000011" "g.14174427A>T" "" "" "" "TMEM43(NM_024334.2):c.504A>T (p.K168N), TMEM43(NM_024334.3):c.504A>T (p.K168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132927A>T" "" "benign" "" "0000251917" "0" "30" "3" "14175261" "14175261" "subst" "0" "02326" "TMEM43_000111" "g.14175261A>G" "" "" "" "TMEM43(NM_024334.2):c.535A>G (p.(Met179Val), p.M179V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14133761A>G" "" "likely benign" "" "0000252670" "0" "50" "3" "14173135" "14173135" "subst" "8.12565E-6" "02326" "TMEM43_000099" "g.14173135A>G" "" "" "" "TMEM43(NM_024334.2):c.353A>G (p.H118R), TMEM43(NM_024334.3):c.353A>G (p.H118R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14131635A>G" "" "VUS" "" "0000252780" "0" "50" "3" "14177370" "14177370" "subst" "8.15674E-6" "02326" "TMEM43_000060" "g.14177370A>G" "" "" "" "TMEM43(NM_024334.2):c.844A>G (p.T282A), TMEM43(NM_024334.3):c.844A>G (p.T282A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135870A>G" "" "VUS" "" "0000252975" "0" "10" "3" "14174427" "14174427" "subst" "0.325088" "01943" "TMEM43_000011" "g.14174427A>T" "" "" "" "TMEM43(NM_024334.2):c.504A>T (p.K168N), TMEM43(NM_024334.3):c.504A>T (p.K168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132927A>T" "" "benign" "" "0000253390" "0" "10" "3" "14176384" "14176384" "subst" "0.00149117" "01943" "TMEM43_000015" "g.14176384A>G" "" "" "" "TMEM43(NM_024334.2):c.698A>G (p.Y233C), TMEM43(NM_024334.3):c.698A>G (p.Y233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14134884A>G" "" "benign" "" "0000256421" "0" "50" "3" "14174066" "14174066" "subst" "5.68625E-5" "01943" "TMEM43_000103" "g.14174066A>G" "" "" "" "TMEM43(NM_024334.2):c.413A>G (p.Q138R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132566A>G" "" "VUS" "" "0000256549" "0" "50" "3" "14177355" "14177355" "subst" "0.000807735" "01943" "TMEM43_000059" "g.14177355A>T" "" "" "" "TMEM43(NM_024334.2):c.829A>T (p.T277S), TMEM43(NM_024334.3):c.829A>T (p.T277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135855A>T" "" "VUS" "" "0000309220" "0" "50" "3" "14183150" "14183150" "subst" "1.21904E-5" "02330" "TMEM43_000081" "g.14183150T>C" "" "" "" "TMEM43(NM_024334.3):c.1058T>C (p.F353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141650T>C" "" "VUS" "" "0000309221" "0" "10" "3" "14183188" "14183188" "subst" "0.00131201" "02330" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141688G>A" "" "benign" "" "0000309222" "0" "30" "3" "14183197" "14183197" "subst" "0.00010154" "02330" "TMEM43_000063" "g.14183197C>T" "" "" "" "TMEM43(NM_024334.2):c.1105C>T (p.L369F), TMEM43(NM_024334.3):c.1105C>T (p.L369F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141697C>T" "" "likely benign" "" "0000309223" "0" "10" "3" "14171079" "14171079" "subst" "0" "02330" "TMEM43_000088" "g.14171079T>C" "" "" "" "TMEM43(NM_024334.3):c.162+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129579T>C" "" "benign" "" "0000309224" "0" "10" "3" "14172308" "14172308" "subst" "0.00586464" "02330" "TMEM43_000091" "g.14172308C>T" "" "" "" "TMEM43(NM_024334.2):c.163-14C>T, TMEM43(NM_024334.3):c.163-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130808C>T" "" "benign" "" "0000309225" "0" "10" "3" "14172319" "14172319" "del" "0" "02330" "TMEM43_000093" "g.14172319del" "" "" "" "TMEM43(NM_024334.2):c.163-3delC, TMEM43(NM_024334.3):c.163-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130819del" "" "benign" "" "0000309226" "0" "10" "3" "14172316" "14172316" "subst" "0.000178927" "02330" "TMEM43_000092" "g.14172316T>A" "" "" "" "TMEM43(NM_024334.2):c.163-6T>A, TMEM43(NM_024334.3):c.163-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130816T>A" "" "benign" "" "0000309227" "0" "10" "3" "14172381" "14172381" "subst" "0.00812079" "02330" "TMEM43_000006" "g.14172381C>T" "" "" "" "TMEM43(NM_024334.2):c.222C>T (p.P74=), TMEM43(NM_024334.3):c.222C>T (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130881C>T" "" "benign" "" "0000309228" "0" "10" "3" "14172405" "14172405" "subst" "7.32768E-5" "02330" "TMEM43_000095" "g.14172405G>A" "" "" "" "TMEM43(NM_024334.3):c.246G>A (p.P82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130905G>A" "" "benign" "" "0000309229" "0" "10" "3" "14172467" "14172467" "subst" "0" "02330" "TMEM43_000097" "g.14172467C>T" "" "" "" "TMEM43(NM_024334.3):c.297+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130967C>T" "" "benign" "" "0000309230" "0" "10" "3" "14174055" "14174055" "subst" "0.000134031" "02330" "TMEM43_000101" "g.14174055C>T" "" "" "" "TMEM43(NM_024334.3):c.402C>T (p.T134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132555C>T" "" "benign" "" "0000309231" "0" "30" "3" "14174059" "14174059" "subst" "1.62464E-5" "02330" "TMEM43_000102" "g.14174059G>A" "" "" "" "TMEM43(NM_024334.2):c.406G>A (p.D136N), TMEM43(NM_024334.3):c.406G>A (p.D136N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132559G>A" "" "likely benign" "" "0000309232" "0" "10" "3" "14174107" "14174107" "subst" "0.000239746" "02330" "TMEM43_000106" "g.14174107G>C" "" "" "" "TMEM43(NM_024334.2):c.442+12G>C, TMEM43(NM_024334.3):c.442+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132607G>C" "" "benign" "" "0000309233" "0" "10" "3" "14174104" "14174110" "del" "0" "02330" "TMEM43_000105" "g.14174104_14174110del" "" "" "" "TMEM43(NM_024334.3):c.442+9_442+15delTGGGCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132604_14132610del" "" "benign" "" "0000309234" "0" "10" "3" "14170944" "14170944" "subst" "0.000207142" "02330" "TMEM43_000086" "g.14170944C>A" "" "" "" "TMEM43(NM_024334.2):c.45C>A (p.V15=), TMEM43(NM_024334.3):c.45C>A (p.V15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129444C>A" "" "benign" "" "0000309235" "0" "50" "3" "14174407" "14174407" "subst" "4.46664E-5" "02330" "TMEM43_000108" "g.14174407G>A" "" "" "" "TMEM43(NM_024334.2):c.484G>A (p.D162N), TMEM43(NM_024334.3):c.484G>A (p.D162N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132907G>A" "" "VUS" "" "0000309236" "0" "10" "3" "14174454" "14174454" "subst" "0.0132189" "02330" "TMEM43_000031" "g.14174454G>T" "" "" "" "TMEM43(NM_024334.2):c.512+19G>T, TMEM43(NM_024334.3):c.512+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132954G>T" "" "benign" "" "0000309237" "0" "10" "3" "14175262" "14175262" "subst" "0.378194" "02330" "TMEM43_000112" "g.14175262T>C" "" "" "" "TMEM43(NM_024334.2):c.536T>C (p.M179T), TMEM43(NM_024334.3):c.536T>C (p.M179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14133762T>C" "" "benign" "" "0000309238" "0" "30" "3" "14176655" "14176655" "subst" "8.18444E-6" "02330" "TMEM43_000116" "g.14176655C>T" "" "" "" "TMEM43(NM_024334.3):c.706-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135155C>T" "" "likely benign" "" "0000309239" "0" "10" "3" "14176729" "14176729" "subst" "9.01735E-5" "02330" "TMEM43_000068" "g.14176729C>T" "" "" "" "TMEM43(NM_024334.2):c.777C>T (p.H259=), TMEM43(NM_024334.3):c.777C>T (p.H259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135229C>T" "" "benign" "" "0000309240" "0" "10" "3" "14177324" "14177324" "subst" "0.000114566" "02330" "TMEM43_000069" "g.14177324G>A" "" "" "" "TMEM43(NM_024334.2):c.798G>A (p.R266=), TMEM43(NM_024334.3):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135824G>A" "" "benign" "" "0000309241" "0" "50" "3" "14177328" "14177328" "subst" "0.000179937" "02330" "TMEM43_000070" "g.14177328C>T" "" "" "" "TMEM43(NM_024334.3):c.802C>T (p.R268W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135828C>T" "" "VUS" "" "0000309242" "0" "10" "3" "14170981" "14170981" "subst" "0.00253055" "02330" "TMEM43_000004" "g.14170981C>T" "" "" "" "TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129481C>T" "" "benign" "" "0000309243" "0" "50" "3" "14177388" "14177388" "subst" "4.07993E-6" "02330" "TMEM43_000073" "g.14177388C>T" "" "" "" "TMEM43(NM_024334.3):c.862C>T (p.H288Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135888C>T" "" "VUS" "" "0000309244" "0" "10" "3" "14180706" "14180706" "subst" "0.0184251" "02330" "TMEM43_000019" "g.14180706C>T" "" "" "" "TMEM43(NM_024334.2):c.909C>T (p.S303=), TMEM43(NM_024334.3):c.909C>T (p.S303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139206C>T" "" "benign" "" "0000309245" "0" "50" "3" "14180744" "14180744" "subst" "0.000170563" "02330" "TMEM43_000077" "g.14180744G>C" "" "" "" "TMEM43(NM_024334.3):c.947G>C (p.W316S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139244G>C" "" "VUS" "" "0000309246" "0" "10" "3" "14180750" "14180750" "subst" "0.00139708" "02330" "TMEM43_000021" "g.14180750C>T" "" "" "" "TMEM43(NM_024334.2):c.953C>T (p.A318V), TMEM43(NM_024334.3):c.953C>T (p.A318V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139250C>T" "" "benign" "" "0000311878" "0" "50" "3" "14183312" "14183312" "subst" "0" "02325" "TMEM43_000089" "g.14183312G>A" "" "" "" "TMEM43(NM_024334.3):c.*17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141812G>A" "" "VUS" "" "0000311879" "0" "50" "3" "14180802" "14180802" "subst" "0" "02325" "TMEM43_000079" "g.14180802G>T" "" "" "" "TMEM43(NM_024334.3):c.1000+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139302G>T" "" "VUS" "" "0000311880" "0" "50" "3" "14183150" "14183150" "subst" "1.21904E-5" "02325" "TMEM43_000081" "g.14183150T>C" "" "" "" "TMEM43(NM_024334.3):c.1058T>C (p.F353S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141650T>C" "" "VUS" "" "0000311881" "0" "50" "3" "14183212" "14183213" "del" "0.000227439" "02325" "TMEM43_000087" "g.14183212_14183213del" "" "" "" "TMEM43(NM_024334.3):c.1120_1121delCT (p.L374Vfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141712_14141713del" "" "VUS" "" "0000311882" "0" "30" "3" "14171082" "14171082" "subst" "0.00390305" "02325" "TMEM43_000090" "g.14171082C>T" "" "" "" "TMEM43(NM_024334.2):c.162+21C>T, TMEM43(NM_024334.3):c.162+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129582C>T" "" "likely benign" "" "0000311883" "0" "30" "3" "14172308" "14172308" "subst" "0.00586464" "02325" "TMEM43_000091" "g.14172308C>T" "" "" "" "TMEM43(NM_024334.2):c.163-14C>T, TMEM43(NM_024334.3):c.163-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130808C>T" "" "likely benign" "" "0000311884" "0" "10" "3" "14172319" "14172319" "del" "0" "02325" "TMEM43_000040" "g.14172319del" "" "" "" "TMEM43(NM_024334.2):c.163-3delC, TMEM43(NM_024334.3):c.163-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130819del" "" "benign" "" "0000311885" "0" "30" "3" "14172316" "14172316" "subst" "0.000178927" "02325" "TMEM43_000092" "g.14172316T>A" "" "" "" "TMEM43(NM_024334.2):c.163-6T>A, TMEM43(NM_024334.3):c.163-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130816T>A" "" "likely benign" "" "0000311886" "0" "30" "3" "14172381" "14172381" "subst" "0.00812079" "02325" "TMEM43_000006" "g.14172381C>T" "" "" "" "TMEM43(NM_024334.2):c.222C>T (p.P74=), TMEM43(NM_024334.3):c.222C>T (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130881C>T" "" "likely benign" "" "0000311887" "0" "50" "3" "14172434" "14172434" "subst" "4.08744E-6" "02325" "TMEM43_000096" "g.14172434T>C" "" "" "" "TMEM43(NM_024334.3):c.275T>C (p.I92T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130934T>C" "" "VUS" "" "0000311888" "0" "30" "3" "14173087" "14173087" "subst" "8.12698E-6" "02325" "TMEM43_000098" "g.14173087C>G" "" "" "" "TMEM43(NM_024334.3):c.305C>G (p.S102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14131587C>G" "" "likely benign" "" "0000311889" "0" "50" "3" "14170931" "14170931" "subst" "2.4373E-5" "02325" "TMEM43_000085" "g.14170931G>A" "" "" "" "TMEM43(NM_024334.3):c.32G>A (p.R11Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129431G>A" "" "VUS" "" "0000311890" "0" "50" "3" "14174369" "14174369" "subst" "0" "02325" "TMEM43_000107" "g.14174369C>T" "" "" "" "TMEM43(NM_024334.2):c.446C>T (p.T149I), TMEM43(NM_024334.3):c.446C>T (p.T149I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132869C>T" "" "VUS" "" "0000311891" "0" "30" "3" "14174454" "14174454" "subst" "0.0132189" "02325" "TMEM43_000031" "g.14174454G>T" "" "" "" "TMEM43(NM_024334.2):c.512+19G>T, TMEM43(NM_024334.3):c.512+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132954G>T" "" "likely benign" "" "0000311892" "0" "10" "3" "14175262" "14175262" "subst" "0.378194" "02325" "TMEM43_000112" "g.14175262T>C" "" "" "" "TMEM43(NM_024334.2):c.536T>C (p.M179T), TMEM43(NM_024334.3):c.536T>C (p.M179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14133762T>C" "" "benign" "" "0000311893" "0" "50" "3" "14176670" "14176670" "subst" "0.000171576" "02325" "TMEM43_000057" "g.14176670C>T" "" "" "" "TMEM43(NM_024334.2):c.718C>T (p.R240C), TMEM43(NM_024334.3):c.718C>T (p.R240C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135170C>T" "" "VUS" "" "0000311894" "0" "30" "3" "14176694" "14176694" "subst" "2.85789E-5" "02325" "TMEM43_000118" "g.14176694C>A" "" "" "" "TMEM43(NM_024334.2):c.742C>A (p.L248M), TMEM43(NM_024334.3):c.742C>A (p.L248M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135194C>A" "" "likely benign" "" "0000311895" "0" "30" "3" "14177324" "14177324" "subst" "0.000114566" "02325" "TMEM43_000069" "g.14177324G>A" "" "" "" "TMEM43(NM_024334.2):c.798G>A (p.R266=), TMEM43(NM_024334.3):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135824G>A" "" "likely benign" "" "0000311896" "0" "30" "3" "14170981" "14170981" "subst" "0.00253055" "02325" "TMEM43_000004" "g.14170981C>T" "" "" "" "TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129481C>T" "" "likely benign" "" "0000313745" "0" "30" "3" "14187482" "14187482" "subst" "0.000549156" "02329" "XPC_000001" "g.14187482T>G" "" "" "" "XPC(NM_004628.5):c.2782A>C (p.K928Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14145982T>G" "" "likely benign" "" "0000314562" "0" "30" "3" "14183153" "14183153" "subst" "0.000438817" "02326" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141653G>C" "" "likely benign" "" "0000314563" "0" "30" "3" "14183188" "14183188" "subst" "0.00131201" "02326" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141688G>A" "" "likely benign" "" "0000314564" "0" "10" "3" "14183203" "14183203" "subst" "0.000800117" "02326" "TMEM43_000064" "g.14183203T>C" "" "" "" "TMEM43(NM_024334.2):c.1111T>C (p.Y371H), TMEM43(NM_024334.3):c.1111T>C (p.Y371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141703T>C" "" "benign" "" "0000314565" "0" "30" "3" "14170382" "14170382" "del" "0" "02326" "TMEM43_000084" "g.14170382del" "" "" "" "TMEM43(NM_024334.2):c.13-530delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14128882del" "" "likely benign" "" "0000314566" "0" "10" "3" "14171082" "14171082" "subst" "0.00390305" "02326" "TMEM43_000090" "g.14171082C>T" "" "" "" "TMEM43(NM_024334.2):c.162+21C>T, TMEM43(NM_024334.3):c.162+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129582C>T" "" "benign" "" "0000314567" "0" "10" "3" "14172308" "14172308" "subst" "0.00586464" "02326" "TMEM43_000091" "g.14172308C>T" "" "" "" "TMEM43(NM_024334.2):c.163-14C>T, TMEM43(NM_024334.3):c.163-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130808C>T" "" "benign" "" "0000314568" "0" "30" "3" "14172323" "14172323" "subst" "0.000219568" "02326" "TMEM43_000094" "g.14172323G>A" "" "" "" "TMEM43(NM_024334.2):c.164G>A (p.G55D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130823G>A" "" "likely benign" "" "0000314569" "0" "10" "3" "14172381" "14172381" "subst" "0.00812079" "02326" "TMEM43_000006" "g.14172381C>T" "" "" "" "TMEM43(NM_024334.2):c.222C>T (p.P74=), TMEM43(NM_024334.3):c.222C>T (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130881C>T" "" "benign" "" "0000314570" "0" "70" "3" "14173134" "14173134" "subst" "8.12579E-6" "02326" "TMEM43_000046" "g.14173134C>T" "" "" "" "TMEM43(NM_024334.2):c.352C>T (p.H118Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14131634C>T" "" "likely pathogenic" "" "0000314571" "0" "10" "3" "14174454" "14174454" "subst" "0.0132189" "02326" "TMEM43_000031" "g.14174454G>T" "" "" "" "TMEM43(NM_024334.2):c.512+19G>T, TMEM43(NM_024334.3):c.512+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132954G>T" "" "benign" "" "0000314572" "0" "10" "3" "14175262" "14175262" "subst" "0.378194" "02326" "TMEM43_000112" "g.14175262T>C" "" "" "" "TMEM43(NM_024334.2):c.536T>C (p.M179T), TMEM43(NM_024334.3):c.536T>C (p.M179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14133762T>C" "" "benign" "" "0000314573" "0" "50" "3" "14176344" "14176344" "subst" "4.06392E-5" "02326" "TMEM43_000115" "g.14176344C>T" "" "" "" "TMEM43(NM_024334.2):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14134844C>T" "" "VUS" "" "0000314574" "0" "30" "3" "14176660" "14176660" "subst" "0" "02326" "TMEM43_000117" "g.14176660G>T" "" "" "" "TMEM43(NM_024334.2):c.708G>T (p.V236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135160G>T" "" "likely benign" "" "0000314575" "0" "50" "3" "14176670" "14176670" "subst" "0.000171576" "02326" "TMEM43_000057" "g.14176670C>T" "" "" "" "TMEM43(NM_024334.2):c.718C>T (p.R240C), TMEM43(NM_024334.3):c.718C>T (p.R240C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135170C>T" "" "VUS" "" "0000314576" "0" "30" "3" "14176699" "14176699" "subst" "0" "02326" "TMEM43_000067" "g.14176699C>T" "" "" "" "TMEM43(NM_024334.2):c.747C>T (p.S249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135199C>T" "" "likely benign" "" "0000314577" "0" "30" "3" "14177324" "14177324" "subst" "0.000114566" "02326" "TMEM43_000069" "g.14177324G>A" "" "" "" "TMEM43(NM_024334.2):c.798G>A (p.R266=), TMEM43(NM_024334.3):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135824G>A" "" "likely benign" "" "0000314578" "0" "10" "3" "14170981" "14170981" "subst" "0.00253055" "02326" "TMEM43_000004" "g.14170981C>T" "" "" "" "TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129481C>T" "" "benign" "" "0000314579" "0" "10" "3" "14180706" "14180706" "subst" "0.0184251" "02326" "TMEM43_000019" "g.14180706C>T" "" "" "" "TMEM43(NM_024334.2):c.909C>T (p.S303=), TMEM43(NM_024334.3):c.909C>T (p.S303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139206C>T" "" "benign" "" "0000316702" "0" "10" "3" "14183311" "14183311" "subst" "0.00168181" "01943" "TMEM43_000026" "g.14183311C>T" "" "" "" "TMEM43(NM_024334.2):c.*16C>T, TMEM43(NM_024334.3):c.*16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141811C>T" "" "benign" "" "0000316703" "0" "50" "3" "14180813" "14180813" "subst" "5.28507E-5" "01943" "TMEM43_000080" "g.14180813G>A" "" "" "" "TMEM43(NM_024334.2):c.1000+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139313G>A" "" "VUS" "" "0000316704" "0" "30" "3" "14183166" "14183166" "subst" "1.21876E-5" "01943" "TMEM43_000083" "g.14183166G>A" "" "" "" "TMEM43(NM_024334.2):c.1074G>A (p.S358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141666G>A" "" "likely benign" "" "0000316705" "0" "10" "3" "14183188" "14183188" "subst" "0.00131201" "01943" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14141688G>A" "" "benign" "" "0000316706" "0" "10" "3" "14172308" "14172308" "subst" "0.00586464" "01943" "TMEM43_000091" "g.14172308C>T" "" "" "" "TMEM43(NM_024334.2):c.163-14C>T, TMEM43(NM_024334.3):c.163-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130808C>T" "" "benign" "" "0000316707" "0" "30" "3" "14172319" "14172319" "del" "0" "01943" "TMEM43_000040" "g.14172319del" "" "" "" "TMEM43(NM_024334.2):c.163-3delC, TMEM43(NM_024334.3):c.163-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130819del" "" "likely benign" "" "0000316709" "0" "30" "3" "14172316" "14172316" "subst" "0.000178927" "01943" "TMEM43_000092" "g.14172316T>A" "" "" "" "TMEM43(NM_024334.2):c.163-6T>A, TMEM43(NM_024334.3):c.163-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130816T>A" "" "likely benign" "" "0000316710" "0" "10" "3" "14172381" "14172381" "subst" "0.00812079" "01943" "TMEM43_000006" "g.14172381C>T" "" "" "" "TMEM43(NM_024334.2):c.222C>T (p.P74=), TMEM43(NM_024334.3):c.222C>T (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14130881C>T" "" "benign" "" "0000316711" "0" "30" "3" "14173190" "14173190" "subst" "0.000225745" "01943" "TMEM43_000100" "g.14173190G>A" "" "" "" "TMEM43(NM_024334.2):c.392+16G>A, TMEM43(NM_024334.3):c.392+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14131690G>A" "" "likely benign" "" "0000316712" "0" "30" "3" "14174059" "14174059" "subst" "1.62464E-5" "01943" "TMEM43_000102" "g.14174059G>A" "" "" "" "TMEM43(NM_024334.2):c.406G>A (p.D136N), TMEM43(NM_024334.3):c.406G>A (p.D136N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132559G>A" "" "likely benign" "" "0000316713" "0" "50" "3" "14174074" "14174076" "del" "0" "01943" "TMEM43_000104" "g.14174074_14174076del" "" "" "" "TMEM43(NM_024334.2):c.421_423delAAG (p.K141del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132574_14132576del" "" "VUS" "" "0000316714" "0" "10" "3" "14174107" "14174107" "subst" "0.000239746" "01943" "TMEM43_000106" "g.14174107G>C" "" "" "" "TMEM43(NM_024334.2):c.442+12G>C, TMEM43(NM_024334.3):c.442+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132607G>C" "" "benign" "" "0000316715" "0" "30" "3" "14170944" "14170944" "subst" "0.000207142" "01943" "TMEM43_000086" "g.14170944C>A" "" "" "" "TMEM43(NM_024334.2):c.45C>A (p.V15=), TMEM43(NM_024334.3):c.45C>A (p.V15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129444C>A" "" "likely benign" "" "0000316716" "0" "50" "3" "14174407" "14174407" "subst" "4.46664E-5" "01943" "TMEM43_000108" "g.14174407G>A" "" "" "" "TMEM43(NM_024334.2):c.484G>A (p.D162N), TMEM43(NM_024334.3):c.484G>A (p.D162N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132907G>A" "" "VUS" "" "0000316717" "0" "30" "3" "14174450" "14174450" "subst" "0" "01943" "TMEM43_000109" "g.14174450C>T" "" "" "" "TMEM43(NM_024334.2):c.512+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132950C>T" "" "likely benign" "" "0000316718" "0" "10" "3" "14174454" "14174454" "subst" "0.0132189" "01943" "TMEM43_000031" "g.14174454G>T" "" "" "" "TMEM43(NM_024334.2):c.512+19G>T, TMEM43(NM_024334.3):c.512+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14132954G>T" "" "benign" "" "0000316719" "0" "30" "3" "14175242" "14175242" "subst" "0.00012994" "01943" "TMEM43_000110" "g.14175242C>T" "" "" "" "TMEM43(NM_024334.2):c.516C>T (p.A172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14133742C>T" "" "likely benign" "" "0000316720" "0" "10" "3" "14175262" "14175262" "subst" "0.378194" "01943" "TMEM43_000112" "g.14175262T>C" "" "" "" "TMEM43(NM_024334.2):c.536T>C (p.M179T), TMEM43(NM_024334.3):c.536T>C (p.M179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14133762T>C" "" "benign" "" "0000316721" "0" "30" "3" "14175290" "14175290" "subst" "4.06065E-5" "01943" "TMEM43_000113" "g.14175290C>T" "" "" "" "TMEM43(NM_024334.2):c.564C>T (p.G188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14133790C>T" "" "likely benign" "" "0000316722" "0" "50" "3" "14176278" "14176278" "subst" "1.21835E-5" "01943" "TMEM43_000114" "g.14176278G>A" "" "" "" "TMEM43(NM_024334.2):c.592G>A (p.D198N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14134778G>A" "" "VUS" "" "0000316723" "0" "30" "3" "14176694" "14176694" "subst" "2.85789E-5" "01943" "TMEM43_000118" "g.14176694C>A" "" "" "" "TMEM43(NM_024334.2):c.742C>A (p.L248M), TMEM43(NM_024334.3):c.742C>A (p.L248M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135194C>A" "" "likely benign" "" "0000316724" "0" "30" "3" "14177324" "14177324" "subst" "0.000114566" "01943" "TMEM43_000069" "g.14177324G>A" "" "" "" "TMEM43(NM_024334.2):c.798G>A (p.R266=), TMEM43(NM_024334.3):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14135824G>A" "" "likely benign" "" "0000316725" "0" "10" "3" "14170981" "14170981" "subst" "0.00253055" "01943" "TMEM43_000004" "g.14170981C>T" "" "" "" "TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14129481C>T" "" "benign" "" "0000316726" "0" "10" "3" "14180706" "14180706" "subst" "0.0184251" "01943" "TMEM43_000019" "g.14180706C>T" "" "" "" "TMEM43(NM_024334.2):c.909C>T (p.S303=), TMEM43(NM_024334.3):c.909C>T (p.S303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139206C>T" "" "benign" "" "0000316727" "0" "10" "3" "14180750" "14180750" "subst" "0.00139708" "01943" "TMEM43_000021" "g.14180750C>T" "" "" "" "TMEM43(NM_024334.2):c.953C>T (p.A318V), TMEM43(NM_024334.3):c.953C>T (p.A318V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14139250C>T" "" "benign" "" "0000320063" "0" "50" "3" "14190057" "14190057" "subst" "8.13504E-6" "01943" "XPC_000002" "g.14190057C>T" "" "" "" "XPC(NM_004628.4):c.2420+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14148557C>T" "" "VUS" "" "0000440032" "0" "50" "3" "14175246" "14175246" "subst" "4.06062E-6" "01164" "TMEM43_000052" "g.14175246G>A" "" "" "" "" "" "Germline" "" "rs397517385" "0" "" "" "g.14133746G>A" "" "VUS" "ACMG" "0000441441" "0" "11" "3" "14170833" "14170834" "dup" "0" "00802" "TMEM43_000001" "g.14170833_14170834dup" "" "" "" "13-93_13-94insAA" "" "Germline" "" "rs10648308" "0" "" "" "g.14129333_14129334dup" "" "benign" "" "0000441442" "0" "11" "3" "14170833" "14170834" "del" "0" "00802" "TMEM43_000002" "g.14170833_14170834del" "" "" "" "13-79_13-80delAA" "" "Germline" "" "rs58010344" "0" "" "" "g.14129333_14129334del" "" "benign" "" "0000441443" "0" "11" "3" "14170833" "14170834" "dup" "0" "00802" "TMEM43_000001" "g.14170833_14170834dup" "" "" "" "13-77_13-78insAA" "" "Germline" "" "rs59625337" "0" "" "" "g.14129333_14129334dup" "" "benign" "" "0000441444" "0" "11" "3" "14170981" "14170981" "subst" "0.00253055" "00802" "TMEM43_000004" "g.14170981C>T" "" "" "" "" "" "Germline" "" "rs350286" "0" "" "" "g.14129481C>T" "" "benign" "" "0000441445" "0" "11" "3" "0" "0" "ins" "0" "00802" "TMEM43_000005" "g.?" "" "" "" "" "" "Germline" "" "rs35334148" "0" "" "" "" "" "benign" "" "0000441446" "0" "11" "3" "14172381" "14172381" "subst" "0.00812079" "00802" "TMEM43_000006" "g.14172381C>T" "" "" "" "" "" "Germline" "" "rs34099410" "0" "" "" "g.14130881C>T" "" "benign" "" "0000441447" "0" "11" "3" "14173009" "14173009" "subst" "0" "00802" "TMEM43_000007" "g.14173009C>T" "" "" "" "" "" "Germline" "" "rs12492117" "0" "" "" "g.14131509C>T" "" "benign" "" "0000441448" "0" "11" "3" "14173963" "14173963" "subst" "0" "00802" "TMEM43_000008" "g.14173963G>T" "" "" "" "" "" "Germline" "" "rs4685074" "0" "" "" "g.14132463G>T" "" "benign" "" "0000441449" "0" "11" "3" "14174146" "14174146" "subst" "0" "00802" "TMEM43_000009" "g.14174146T>C" "" "" "" "" "" "Germline" "" "rs4685075" "0" "" "" "g.14132646T>C" "" "benign" "" "0000441450" "0" "11" "3" "14174318" "14174318" "subst" "0.00783478" "00802" "TMEM43_000010" "g.14174318G>A" "" "" "" "" "" "Germline" "" "rs41284009" "0" "" "" "g.14132818G>A" "" "benign" "" "0000441451" "0" "11" "3" "14174427" "14174427" "subst" "0.325088" "00802" "TMEM43_000011" "g.14174427A>T" "" "" "" "" "" "Germline" "" "rs4685076" "0" "" "" "g.14132927A>T" "" "benign" "" "0000441452" "0" "11" "3" "14175159" "14175159" "subst" "0" "00802" "TMEM43_000012" "g.14175159G>A" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs2733585" "0" "" "" "" "" "benign" "" "0000441453" "0" "11" "3" "14175262" "14175262" "subst" "0" "00802" "TMEM43_000013" "g.14175262A>T" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs2340917" "0" "" "" "" "" "benign" "" "0000441454" "0" "11" "3" "14176384" "14176384" "subst" "0.00149117" "00802" "TMEM43_000015" "g.14176384A>G" "" "" "" "" "" "Germline" "" "rs35924492" "0" "" "" "g.14134884A>G" "" "benign" "" "0000441455" "0" "11" "3" "14176446" "14176446" "subst" "0" "00802" "TMEM43_000016" "g.14176446G>A" "" "" "" "" "" "Germline" "" "rs6766740" "0" "" "" "g.14134946G>A" "" "benign" "" "0000441456" "0" "11" "3" "14177251" "14177251" "subst" "0" "00802" "TMEM43_000017" "g.14177251G>A" "" "" "" "" "" "Germline" "" "rs3796311" "0" "" "" "g.14135751G>A" "" "benign" "" "0000441457" "0" "11" "3" "14180633" "14180633" "subst" "0.160239" "00802" "TMEM43_000018" "g.14180633C>T" "" "" "" "" "" "Germline" "" "rs2731320" "0" "" "" "g.14139133C>T" "" "benign" "" "0000441458" "0" "11" "3" "14180706" "14180706" "subst" "0.0184251" "00802" "TMEM43_000019" "g.14180706C>T" "" "" "" "" "" "Germline" "" "rs35100587" "0" "" "" "g.14139206C>T" "" "benign" "" "0000441459" "0" "11" "3" "14180750" "14180750" "subst" "0.00139708" "00802" "TMEM43_000021" "g.14180750C>T" "" "" "" "" "" "Germline" "" "rs11924644" "0" "" "" "g.14139250C>T" "" "benign" "" "0000441460" "0" "11" "3" "14183052" "14183052" "subst" "0.0071401" "00802" "TMEM43_000022" "g.14183052G>A" "" "" "" "" "" "Germline" "" "rs9874135" "0" "" "" "g.14141552G>A" "" "benign" "" "0000441461" "0" "11" "3" "14183105" "14183105" "subst" "4.07731E-6" "00802" "TMEM43_000023" "g.14183105C>T" "" "" "" "" "" "Germline" "" "rs17856369" "0" "" "" "g.14141605C>T" "" "benign" "" "0000441462" "0" "11" "3" "14183188" "14183188" "subst" "0.00131201" "00802" "TMEM43_000025" "g.14183188G>A" "" "" "" "" "" "Germline" "" "rs36083134" "0" "" "" "g.14141688G>A" "" "benign" "" "0000441463" "0" "11" "3" "14183311" "14183311" "subst" "0.00168181" "00802" "TMEM43_000026" "g.14183311C>T" "" "" "" "" "" "Germline" "" "rs3796310" "0" "" "" "g.14141811C>T" "" "benign" "" "0000441464" "0" "11" "3" "14183410" "14183410" "subst" "0" "00802" "TMEM43_000028" "g.14183410T>C" "" "" "" "" "" "Germline" "" "rs1043943" "0" "" "" "g.14141910T>C" "" "benign" "" "0000442399" "0" "55" "3" "14176310" "14176310" "subst" "3.65539E-5" "00802" "TMEM43_000014" "g.14176310A>G" "" "unpublished, ARVD/C database 7852" "" "" "" "Germline" "" "" "0" "" "" "g.14134810A>G" "" "VUS" "" "0000442400" "0" "11" "3" "14180731" "14180731" "subst" "0.00984844" "00802" "TMEM43_000020" "g.14180731C>T" "" "unpublished, ARVD/C database 7622" "" "" "" "Germline" "" "" "0" "" "" "g.14139231C>T" "" "benign" "" "0000442401" "0" "99" "3" "14183165" "14183165" "subst" "0" "00802" "TMEM43_000024" "g.14183165C>T" "" "{PMID:Merner:18313022}, ARVD/C database 7372" "" "" "" "Germline" "" "" "0" "" "" "g.14141665C>T" "" "pathogenic" "" "0000442402" "0" "55" "3" "14183326" "14183326" "subst" "0.00749045" "00802" "TMEM43_000027" "g.14183326T>C" "" "unpublished, ARVD/C database 7853" "" "" "" "Germline" "" "" "0" "" "" "g.14141826T>C" "" "VUS" "" "0000442403" "0" "11" "3" "14166739" "14166739" "subst" "0.0039939" "00802" "TMEM43_000029" "g.14166739G>C" "" "unpublished, ARVD/C database 7939" "" "" "" "Germline" "" "" "0" "" "" "g.14125239G>C" "" "benign" "" "0000442404" "0" "55" "3" "14171020" "14171020" "subst" "4.87706E-5" "00802" "TMEM43_000030" "g.14171020A>G" "" "unpublished, ARVD/C database 7940" "" "" "" "Germline" "" "" "0" "" "" "g.14129520A>G" "" "VUS" "" "0000442405" "0" "11" "3" "14174454" "14174454" "subst" "0.0132189" "00802" "TMEM43_000031" "g.14174454G>T" "" "unpublished, ARVD/C database 7941" "" "" "" "Germline" "" "" "0" "" "" "g.14132954G>T" "" "benign" "" "0000442406" "0" "11" "3" "14177265" "14177265" "subst" "2.07855E-5" "00802" "TMEM43_000032" "g.14177265C>T" "" "unpublished, ARVD/C database 7942" "" "" "" "Germline" "" "" "0" "" "" "g.14135765C>T" "" "benign" "" "0000442407" "0" "11" "3" "14177433" "14177433" "subst" "0.000872543" "00802" "TMEM43_000033" "g.14177433G>A" "" "unpublished, ARVD/C database 7943" "" "" "" "Germline" "" "" "0" "" "" "g.14135933G>A" "" "benign" "" "0000442408" "0" "11" "3" "14166536" "14166536" "subst" "0" "00802" "TMEM43_000034" "g.14166536A>G" "" "unpublished, ARVD/C database 8409" "" "" "" "Germline" "" "" "0" "" "" "g.14125036A>G" "" "benign" "" "0000442409" "0" "11" "3" "14166738" "14166738" "subst" "1.91698E-5" "00802" "TMEM43_000035" "g.14166738A>G" "" "unpublished, ARVD/C database 8410" "" "" "" "Germline" "" "" "0" "" "" "g.14125238A>G" "" "benign" "" "0000442410" "0" "55" "3" "14170930" "14170930" "subst" "9.34215E-5" "00802" "TMEM43_000036" "g.14170930C>T" "" "unpublished, ARVD/C database 8206" "" "" "" "Germline" "" "" "0" "" "" "g.14129430C>T" "" "VUS" "" "0000442411" "0" "11" "3" "14170950" "14170950" "subst" "0" "00802" "TMEM43_000037" "g.14170950T>G" "" "unpublished, ARVD/C database 8785" "" "" "" "Germline" "" "" "0" "" "" "g.14129450T>G" "" "benign" "" "0000442412" "0" "11" "3" "14172229" "14172229" "subst" "0" "00802" "TMEM43_000038" "g.14172229G>A" "" "unpublished, ARVD/C database 8411" "" "" "" "Germline" "" "" "0" "" "" "g.14130729G>A" "" "benign" "" "0000442413" "0" "11" "3" "14172469" "14172469" "subst" "0" "00802" "TMEM43_000039" "g.14172469G>A" "" "unpublished, ARVD/C database 8786" "" "" "" "Germline" "" "" "0" "" "" "g.14130969G>A" "" "benign" "" "0000442414" "0" "11" "3" "14172319" "14172319" "del" "0" "00802" "TMEM43_000040" "g.14172319del" "" "unpublished, ARVD/C database 8017" "" "163-3delC" "" "Germline" "" "" "0" "" "" "g.14130819del" "" "benign" "" "0000442415" "0" "11" "3" "14172328" "14172328" "subst" "8.94571E-5" "00802" "TMEM43_000041" "g.14172328G>A" "" "unpublished, ARVD/C database 8313" "" "" "" "Germline" "" "" "0" "" "" "g.14130828G>A" "" "benign" "" "0000442416" "0" "55" "3" "14172424" "14172424" "subst" "8.56555E-5" "00802" "TMEM43_000042" "g.14172424G>A" "" "unpublished, ARVD/C database 8207" "" "" "" "Germline" "" "" "0" "" "" "g.14130924G>A" "" "VUS" "" "0000442417" "0" "55" "3" "14172430" "14172430" "subst" "7.35072E-5" "00802" "TMEM43_000043" "g.14172430A>G" "" "unpublished, ARVD/C database 8209" "" "" "" "Germline" "" "" "0" "" "" "g.14130930A>G" "" "VUS" "" "0000442418" "0" "11" "3" "14172974" "14172974" "subst" "0" "00802" "TMEM43_000044" "g.14172974C>T" "" "unpublished, ARVD/C database 8417" "" "" "" "Germline" "" "" "0" "" "" "g.14131474C>T" "" "benign" "" "0000442419" "0" "99" "3" "14173114" "14173114" "subst" "8.1244E-6" "00802" "TMEM43_000045" "g.14173114C>T" "" "unpublished, ARVD/C database 8353" "" "" "" "Germline" "" "" "0" "" "" "g.14131614C>T" "" "pathogenic" "" "0000442420" "0" "55" "3" "14173134" "14173134" "subst" "8.12579E-6" "00802" "TMEM43_000046" "g.14173134C>T" "" "unpublished, ARVD/C database 8385" "" "" "r.352c>u/351_392del ratio 2:1" "Germline" "" "" "0" "" "" "g.14131634C>T" "" "VUS" "" "0000442421" "0" "11" "3" "14174006" "14174006" "subst" "8.12691E-5" "00802" "TMEM43_000047" "g.14174006G>A" "" "unpublished, ARVD/C database 8139" "" "" "" "Germline" "" "" "0" "" "" "g.14132506G>A" "" "benign" "" "0000442422" "0" "55" "3" "14174056" "14174056" "subst" "8.5293E-5" "00802" "TMEM43_000048" "g.14174056G>A" "" "unpublished, ARVD/C database 8210" "" "" "" "Germline" "" "" "0" "" "" "g.14132556G>A" "" "VUS" "" "0000442423" "0" "11" "3" "14174077" "14174077" "subst" "0.000556472" "00802" "TMEM43_000049" "g.14174077G>A" "" "unpublished, ARVD/C database 8314" "" "" "" "Germline" "" "" "0" "" "" "g.14132577G>A" "" "benign" "" "0000442424" "0" "55" "3" "14174081" "14174081" "subst" "3.65607E-5" "00802" "TMEM43_000050" "g.14174081C>T" "" "unpublished, ARVD/C database 8211" "" "" "" "Germline" "" "" "0" "" "" "g.14132581C>T" "" "VUS" "" "0000442425" "0" "11" "3" "14174138" "14174138" "del" "0" "00802" "TMEM43_000051" "g.14174138del" "" "unpublished, ARVD/C database 8141" "" "442+43delG" "" "Germline" "" "" "0" "" "" "g.14132638del" "" "benign" "" "0000442426" "0" "11" "3" "14175246" "14175246" "subst" "4.06062E-6" "00802" "TMEM43_000052" "g.14175246G>A" "" "unpublished, ARVD/C database 8857" "" "" "" "Germline" "" "" "0" "" "" "g.14133746G>A" "" "benign" "" "0000442427" "0" "11" "3" "14175339" "14175339" "subst" "4.06207E-6" "00802" "TMEM43_000053" "g.14175339G>A" "" "unpublished, ARVD/C database 8019" "" "" "" "Germline" "" "" "0" "" "" "g.14133839G>A" "" "benign" "" "0000442428" "0" "11" "3" "14176443" "14176443" "subst" "0" "00802" "TMEM43_000054" "g.14176443C>G" "" "unpublished, ARVD/C database 8412" "" "" "" "Germline" "" "" "0" "" "" "g.14134943C>G" "" "benign" "" "0000442429" "0" "11" "3" "14176311" "14176311" "subst" "0" "00802" "TMEM43_000055" "g.14176311T>G" "" "unpublished, ARVD/C database 8858" "" "" "" "Germline" "" "" "0" "" "" "g.14134811T>G" "" "benign" "" "0000442430" "0" "99" "3" "14176398" "14176398" "subst" "0.000390069" "00802" "TMEM43_000056" "g.14176398G>A" "" "unpublished, ARVD/C database 8080" "" "" "" "Germline" "" "" "0" "" "" "g.14134898G>A" "" "pathogenic" "" "0000442431" "0" "55" "3" "14176670" "14176670" "subst" "0.000171576" "00802" "TMEM43_000057" "g.14176670C>T" "" "unpublished, ARVD/C database 8016" "" "" "" "Germline" "" "" "0" "" "" "g.14135170C>T" "" "VUS" "" "0000442432" "0" "55" "3" "14176671" "14176671" "subst" "2.45076E-5" "00802" "TMEM43_000058" "g.14176671G>A" "" "unpublished, ARVD/C database 8212" "" "" "" "Germline" "" "" "0" "" "" "g.14135171G>A" "" "VUS" "" "0000442433" "0" "55" "3" "14177355" "14177355" "subst" "0.000807735" "00802" "TMEM43_000059" "g.14177355A>T" "" "unpublished, ARVD/C database 8213" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "g.14135855A>T" "" "VUS" "" "0000442434" "0" "55" "3" "14177370" "14177370" "subst" "8.15674E-6" "00802" "TMEM43_000060" "g.14177370A>G" "" "unpublished, ARVD/C database 8020" "" "" "" "Germline" "" "" "0" "" "" "g.14135870A>G" "" "VUS" "" "0000442435" "0" "55" "3" "14180693" "14180693" "subst" "0.000483276" "00802" "TMEM43_000061" "g.14180693G>C" "" "unpublished, ARVD/C database 8208" "" "" "" "Germline" "" "" "0" "" "" "g.14139193G>C" "" "VUS" "" "0000442436" "0" "55" "3" "14183118" "14183118" "" "0" "00802" "TMEM43_000062" "g.14183118C>R" "" "unpublished, ARVD/C database 8214" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442437" "0" "55" "3" "14183197" "14183197" "subst" "0.00010154" "00802" "TMEM43_000063" "g.14183197C>T" "" "unpublished, ARVD/C database 8215" "" "" "" "Germline" "" "" "0" "" "" "g.14141697C>T" "" "VUS" "" "0000442438" "0" "11" "3" "14183203" "14183203" "subst" "0.000800117" "00802" "TMEM43_000064" "g.14183203T>C" "" "unpublished, ARVD/C database 8315" "" "" "" "Germline" "" "" "0" "" "" "g.14141703T>C" "" "benign" "" "0000442439" "0" "55" "3" "14183233" "14183233" "subst" "2.03117E-5" "00802" "TMEM43_000065" "g.14183233G>A" "" "unpublished, ARVD/C database 8018" "" "" "" "Germline" "" "" "0" "" "" "g.14141733G>A" "" "VUS" "" "0000442440" "0" "11" "3" "14184697" "14184697" "subst" "0" "00802" "TMEM43_000066" "g.14184697A>T" "" "unpublished, ARVD/C database 8652" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000518081" "0" "10" "3" "14166739" "14166739" "subst" "0.0039939" "02327" "TMEM43_000029" "g.14166739G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14125239G>C" "" "benign" "" "0000518082" "0" "30" "3" "14171020" "14171020" "subst" "4.87706E-5" "02327" "TMEM43_000030" "g.14171020A>G" "" "" "" "TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14129520A>G" "" "likely benign" "" "0000518083" "0" "10" "3" "14171082" "14171082" "subst" "0.00390305" "02327" "TMEM43_000090" "g.14171082C>T" "" "" "" "TMEM43(NM_024334.2):c.162+21C>T, TMEM43(NM_024334.3):c.162+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14129582C>T" "" "benign" "" "0000518084" "0" "10" "3" "14172308" "14172308" "subst" "0.00586464" "02327" "TMEM43_000091" "g.14172308C>T" "" "" "" "TMEM43(NM_024334.2):c.163-14C>T, TMEM43(NM_024334.3):c.163-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130808C>T" "" "benign" "" "0000518085" "0" "50" "3" "14172325" "14172325" "subst" "6.50533E-5" "02327" "TMEM43_000119" "g.14172325C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130825C>T" "" "VUS" "" "0000518086" "0" "50" "3" "14172343" "14172343" "subst" "1.21978E-5" "02326" "TMEM43_000120" "g.14172343A>G" "" "" "" "TMEM43(NM_024334.2):c.184A>G (p.T62A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130843A>G" "" "VUS" "" "0000518087" "0" "50" "3" "14172365" "14172365" "subst" "6.0991E-5" "01943" "TMEM43_000121" "g.14172365C>T" "" "" "" "TMEM43(NM_024334.2):c.206C>T (p.S69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130865C>T" "" "VUS" "" "0000518088" "0" "70" "3" "14172365" "14172365" "subst" "6.0991E-5" "02326" "TMEM43_000121" "g.14172365C>T" "" "" "" "TMEM43(NM_024334.2):c.206C>T (p.S69L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130865C>T" "" "likely pathogenic" "" "0000518089" "0" "10" "3" "14172381" "14172381" "subst" "0.00812079" "02327" "TMEM43_000006" "g.14172381C>T" "" "" "" "TMEM43(NM_024334.2):c.222C>T (p.P74=), TMEM43(NM_024334.3):c.222C>T (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130881C>T" "" "benign" "" "0000518090" "0" "50" "3" "14173119" "14173119" "subst" "4.4682E-5" "01943" "TMEM43_000122" "g.14173119G>A" "" "" "" "TMEM43(NM_024334.2):c.337G>A (p.V113M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14131619G>A" "" "VUS" "" "0000518091" "0" "50" "3" "14173137" "14173137" "subst" "2.43787E-5" "02327" "TMEM43_000123" "g.14173137G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14131637G>A" "" "VUS" "" "0000518092" "0" "10" "3" "14173190" "14173190" "subst" "0.000225745" "02330" "TMEM43_000100" "g.14173190G>A" "" "" "" "TMEM43(NM_024334.2):c.392+16G>A, TMEM43(NM_024334.3):c.392+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14131690G>A" "" "benign" "" "0000518093" "0" "30" "3" "14173190" "14173190" "subst" "0.000225745" "02326" "TMEM43_000100" "g.14173190G>A" "" "" "" "TMEM43(NM_024334.2):c.392+16G>A, TMEM43(NM_024334.3):c.392+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14131690G>A" "" "likely benign" "" "0000518094" "0" "30" "3" "14174077" "14174077" "subst" "0.000556472" "02330" "TMEM43_000049" "g.14174077G>A" "" "" "" "TMEM43(NM_024334.2):c.424G>A (p.E142K), TMEM43(NM_024334.3):c.424G>A (p.E142K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132577G>A" "" "likely benign" "" "0000518095" "0" "30" "3" "14174077" "14174077" "subst" "0.000556472" "01943" "TMEM43_000049" "g.14174077G>A" "" "" "" "TMEM43(NM_024334.2):c.424G>A (p.E142K), TMEM43(NM_024334.3):c.424G>A (p.E142K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132577G>A" "" "likely benign" "" "0000518096" "0" "30" "3" "14174077" "14174077" "subst" "0.000556472" "02325" "TMEM43_000049" "g.14174077G>A" "" "" "" "TMEM43(NM_024334.2):c.424G>A (p.E142K), TMEM43(NM_024334.3):c.424G>A (p.E142K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132577G>A" "" "likely benign" "" "0000518097" "0" "30" "3" "14174077" "14174077" "subst" "0.000556472" "02326" "TMEM43_000049" "g.14174077G>A" "" "" "" "TMEM43(NM_024334.2):c.424G>A (p.E142K), TMEM43(NM_024334.3):c.424G>A (p.E142K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132577G>A" "" "likely benign" "" "0000518098" "0" "30" "3" "14174082" "14174082" "subst" "6.90568E-5" "01943" "TMEM43_000124" "g.14174082G>A" "" "" "" "TMEM43(NM_024334.2):c.429G>A (p.T143=), TMEM43(NM_024334.3):c.429G>A (p.T143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132582G>A" "" "likely benign" "" "0000518099" "0" "30" "3" "14174115" "14174115" "subst" "0.000121962" "02326" "TMEM43_000125" "g.14174115C>T" "" "" "" "TMEM43(NM_024334.2):c.442+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132615C>T" "" "likely benign" "" "0000518100" "0" "30" "3" "14174369" "14174369" "subst" "0" "02326" "TMEM43_000107" "g.14174369C>T" "" "" "" "TMEM43(NM_024334.2):c.446C>T (p.T149I), TMEM43(NM_024334.3):c.446C>T (p.T149I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132869C>T" "" "likely benign" "" "0000518101" "0" "10" "3" "14174427" "14174427" "subst" "0.325088" "02327" "TMEM43_000011" "g.14174427A>T" "" "" "" "TMEM43(NM_024334.2):c.504A>T (p.K168N), TMEM43(NM_024334.3):c.504A>T (p.K168N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132927A>T" "" "benign" "" "0000518102" "0" "10" "3" "14174454" "14174454" "subst" "0.0132189" "02327" "TMEM43_000031" "g.14174454G>T" "" "" "" "TMEM43(NM_024334.2):c.512+19G>T, TMEM43(NM_024334.3):c.512+19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132954G>T" "" "benign" "" "0000518103" "0" "10" "3" "14175262" "14175262" "subst" "0.378194" "02327" "TMEM43_000112" "g.14175262T>C" "" "" "" "TMEM43(NM_024334.2):c.536T>C (p.M179T), TMEM43(NM_024334.3):c.536T>C (p.M179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14133762T>C" "" "benign" "" "0000518104" "0" "50" "3" "14176287" "14176287" "subst" "8.93423E-5" "02330" "TMEM43_000126" "g.14176287G>A" "" "" "" "TMEM43(NM_024334.2):c.601G>A (p.D201N), TMEM43(NM_024334.3):c.601G>A (p.D201N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134787G>A" "" "VUS" "" "0000518105" "0" "50" "3" "14176344" "14176344" "subst" "4.06392E-5" "02327" "TMEM43_000115" "g.14176344C>T" "" "" "" "TMEM43(NM_024334.2):c.658C>T (p.R220C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134844C>T" "" "VUS" "" "0000518106" "0" "50" "3" "14176345" "14176345" "subst" "2.84488E-5" "02327" "TMEM43_000127" "g.14176345G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134845G>A" "" "VUS" "" "0000518107" "0" "30" "3" "14176384" "14176384" "subst" "0.00149117" "02327" "TMEM43_000015" "g.14176384A>G" "" "" "" "TMEM43(NM_024334.2):c.698A>G (p.Y233C), TMEM43(NM_024334.3):c.698A>G (p.Y233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134884A>G" "" "likely benign" "" "0000518108" "0" "10" "3" "14176398" "14176398" "subst" "0.000390069" "02330" "TMEM43_000056" "g.14176398G>A" "" "" "" "TMEM43(NM_024334.2):c.705+7G>A, TMEM43(NM_024334.3):c.705+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134898G>A" "" "benign" "" "0000518109" "0" "30" "3" "14176398" "14176398" "subst" "0.000390069" "01943" "TMEM43_000056" "g.14176398G>A" "" "" "" "TMEM43(NM_024334.2):c.705+7G>A, TMEM43(NM_024334.3):c.705+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134898G>A" "" "likely benign" "" "0000518110" "0" "30" "3" "14176398" "14176398" "subst" "0.000390069" "02325" "TMEM43_000056" "g.14176398G>A" "" "" "" "TMEM43(NM_024334.2):c.705+7G>A, TMEM43(NM_024334.3):c.705+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134898G>A" "" "likely benign" "" "0000518111" "0" "30" "3" "14176398" "14176398" "subst" "0.000390069" "02326" "TMEM43_000056" "g.14176398G>A" "" "" "" "TMEM43(NM_024334.2):c.705+7G>A, TMEM43(NM_024334.3):c.705+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134898G>A" "" "likely benign" "" "0000518112" "0" "50" "3" "14176670" "14176670" "subst" "0.000171576" "02330" "TMEM43_000057" "g.14176670C>T" "" "" "" "TMEM43(NM_024334.2):c.718C>T (p.R240C), TMEM43(NM_024334.3):c.718C>T (p.R240C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135170C>T" "" "VUS" "" "0000518113" "0" "30" "3" "14176702" "14176702" "subst" "3.67608E-5" "02327" "TMEM43_000128" "g.14176702C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135202C>T" "" "likely benign" "" "0000518114" "0" "10" "3" "14176748" "14176748" "subst" "0.000165403" "02330" "TMEM43_000129" "g.14176748A>G" "" "" "" "TMEM43(NM_024334.3):c.780+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135248A>G" "" "benign" "" "0000518115" "0" "30" "3" "14177355" "14177355" "subst" "0.000807735" "02330" "TMEM43_000059" "g.14177355A>T" "" "" "" "TMEM43(NM_024334.2):c.829A>T (p.T277S), TMEM43(NM_024334.3):c.829A>T (p.T277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135855A>T" "" "likely benign" "" "0000518116" "0" "30" "3" "14177370" "14177370" "subst" "8.15674E-6" "02327" "TMEM43_000060" "g.14177370A>G" "" "" "" "TMEM43(NM_024334.2):c.844A>G (p.T282A), TMEM43(NM_024334.3):c.844A>G (p.T282A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135870A>G" "" "likely benign" "" "0000518117" "0" "30" "3" "14177390" "14177390" "subst" "5.71209E-5" "02326" "TMEM43_000130" "g.14177390C>T" "" "" "" "TMEM43(NM_024334.2):c.864C>T (p.H288=), TMEM43(NM_024334.3):c.864C>T (p.H288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135890C>T" "" "likely benign" "" "0000518118" "0" "30" "3" "14177425" "14177425" "subst" "4.91071E-5" "02326" "TMEM43_000074" "g.14177425A>G" "" "" "" "TMEM43(NM_024334.2):c.882+17A>G, TMEM43(NM_024334.3):c.882+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135925A>G" "" "likely benign" "" "0000518119" "0" "10" "3" "14180706" "14180706" "subst" "0.0184251" "02327" "TMEM43_000019" "g.14180706C>T" "" "" "" "TMEM43(NM_024334.2):c.909C>T (p.S303=), TMEM43(NM_024334.3):c.909C>T (p.S303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139206C>T" "" "benign" "" "0000518120" "0" "10" "3" "14180731" "14180731" "subst" "0.00984844" "02330" "TMEM43_000020" "g.14180731C>T" "" "" "" "TMEM43(NM_024334.2):c.934C>T (p.R312W), TMEM43(NM_024334.3):c.934C>T (p.R312W, p.(Arg312Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139231C>T" "" "benign" "" "0000518121" "0" "10" "3" "14180731" "14180731" "subst" "0.00984844" "01943" "TMEM43_000020" "g.14180731C>T" "" "" "" "TMEM43(NM_024334.2):c.934C>T (p.R312W), TMEM43(NM_024334.3):c.934C>T (p.R312W, p.(Arg312Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139231C>T" "" "benign" "" "0000518122" "0" "30" "3" "14180731" "14180731" "subst" "0.00984844" "01804" "TMEM43_000020" "g.14180731C>T" "" "" "" "TMEM43(NM_024334.2):c.934C>T (p.R312W), TMEM43(NM_024334.3):c.934C>T (p.R312W, p.(Arg312Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139231C>T" "" "likely benign" "" "0000518123" "0" "30" "3" "14180731" "14180731" "subst" "0.00984844" "02325" "TMEM43_000020" "g.14180731C>T" "" "" "" "TMEM43(NM_024334.2):c.934C>T (p.R312W), TMEM43(NM_024334.3):c.934C>T (p.R312W, p.(Arg312Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139231C>T" "" "likely benign" "" "0000518124" "0" "30" "3" "14180731" "14180731" "subst" "0.00984844" "02326" "TMEM43_000020" "g.14180731C>T" "" "" "" "TMEM43(NM_024334.2):c.934C>T (p.R312W), TMEM43(NM_024334.3):c.934C>T (p.R312W, p.(Arg312Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139231C>T" "" "likely benign" "" "0000518126" "0" "30" "3" "14180750" "14180750" "subst" "0.00139708" "02327" "TMEM43_000021" "g.14180750C>T" "" "" "" "TMEM43(NM_024334.2):c.953C>T (p.A318V), TMEM43(NM_024334.3):c.953C>T (p.A318V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139250C>T" "" "likely benign" "" "0000518127" "0" "10" "3" "14180778" "14180778" "subst" "1.62444E-5" "02330" "TMEM43_000131" "g.14180778A>G" "" "" "" "TMEM43(NM_024334.3):c.981A>G (p.T327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139278A>G" "" "benign" "" "0000518128" "0" "50" "3" "14180780" "14180780" "subst" "5.27987E-5" "02330" "TMEM43_000132" "g.14180780G>A" "" "" "" "TMEM43(NM_024334.3):c.983G>A (p.R328Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139280G>A" "" "VUS" "" "0000518129" "0" "10" "3" "14183085" "14183085" "subst" "0" "02330" "TMEM43_000133" "g.14183085T>A" "" "" "" "TMEM43(NM_024334.3):c.1001-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141585T>A" "" "benign" "" "0000518130" "0" "50" "3" "14183123" "14183123" "subst" "1.22134E-5" "02327" "TMEM43_000134" "g.14183123T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141623T>G" "" "VUS" "" "0000518131" "0" "30" "3" "14183153" "14183153" "subst" "0.000438817" "02327" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141653G>C" "" "likely benign" "" "0000518132" "0" "30" "3" "14183153" "14183153" "subst" "0.000438817" "02325" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141653G>C" "" "likely benign" "" "0000518133" "0" "90" "3" "14183165" "14183165" "subst" "0" "02325" "TMEM43_000024" "g.14183165C>T" "" "" "" "TMEM43(NM_024334.2):c.1073C>T (p.S358L), TMEM43(NM_024334.3):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141665C>T" "" "pathogenic" "" "0000518134" "0" "50" "3" "14183165" "14183165" "subst" "0" "02326" "TMEM43_000024" "g.14183165C>T" "" "" "" "TMEM43(NM_024334.2):c.1073C>T (p.S358L), TMEM43(NM_024334.3):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141665C>T" "" "VUS" "" "0000518135" "0" "10" "3" "14183188" "14183188" "subst" "0.00131201" "02327" "TMEM43_000025" "g.14183188G>A" "" "" "" "TMEM43(NM_024334.2):c.1096G>A (p.A366T), TMEM43(NM_024334.3):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141688G>A" "" "benign" "" "0000518136" "0" "10" "3" "14183203" "14183203" "subst" "0.000800117" "02330" "TMEM43_000064" "g.14183203T>C" "" "" "" "TMEM43(NM_024334.2):c.1111T>C (p.Y371H), TMEM43(NM_024334.3):c.1111T>C (p.Y371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141703T>C" "" "benign" "" "0000518137" "0" "30" "3" "14183203" "14183203" "subst" "0.000800117" "02327" "TMEM43_000064" "g.14183203T>C" "" "" "" "TMEM43(NM_024334.2):c.1111T>C (p.Y371H), TMEM43(NM_024334.3):c.1111T>C (p.Y371H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141703T>C" "" "likely benign" "" "0000518138" "0" "50" "3" "14183204" "14183204" "subst" "2.03107E-5" "01943" "TMEM43_000135" "g.14183204A>G" "" "" "" "TMEM43(NM_024334.2):c.1112A>G (p.Y371C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141704A>G" "" "VUS" "" "0000518139" "0" "30" "3" "14183232" "14183232" "subst" "1.21859E-5" "02327" "TMEM43_000136" "g.14183232C>T" "" "" "" "TMEM43(NM_024334.2):c.1140C>T (p.A380=), TMEM43(NM_024334.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141732C>T" "" "likely benign" "" "0000518140" "0" "30" "3" "14183269" "14183269" "subst" "8.13345E-6" "02327" "TMEM43_000137" "g.14183269C>T" "" "" "" "TMEM43(NM_024334.2):c.1177C>T (p.R393W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141769C>T" "" "likely benign" "" "0000518141" "0" "50" "3" "14183270" "14183270" "subst" "8.13259E-6" "02330" "TMEM43_000138" "g.14183270G>A" "" "" "" "TMEM43(NM_024334.2):c.1178G>A (p.(Arg393Gln)), TMEM43(NM_024334.3):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141770G>A" "" "VUS" "" "0000518142" "0" "30" "3" "14183270" "14183270" "subst" "8.13259E-6" "01804" "TMEM43_000138" "g.14183270G>A" "" "" "" "TMEM43(NM_024334.2):c.1178G>A (p.(Arg393Gln)), TMEM43(NM_024334.3):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141770G>A" "" "likely benign" "" "0000518143" "0" "30" "3" "14183277" "14183277" "subst" "2.84761E-5" "01943" "TMEM43_000139" "g.14183277A>G" "" "" "" "TMEM43(NM_024334.2):c.1185A>G (p.P395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141777A>G" "" "likely benign" "" "0000518144" "0" "10" "3" "14183303" "14183303" "subst" "0.000518933" "02330" "TMEM43_000140" "g.14183303C>T" "" "" "" "TMEM43(NM_024334.3):c.*8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141803C>T" "" "benign" "" "0000518145" "0" "10" "3" "14183311" "14183311" "subst" "0.00168181" "02330" "TMEM43_000026" "g.14183311C>T" "" "" "" "TMEM43(NM_024334.2):c.*16C>T, TMEM43(NM_024334.3):c.*16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141811C>T" "" "benign" "" "0000518146" "0" "10" "3" "14183311" "14183311" "subst" "0.00168181" "02327" "TMEM43_000026" "g.14183311C>T" "" "" "" "TMEM43(NM_024334.2):c.*16C>T, TMEM43(NM_024334.3):c.*16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141811C>T" "" "benign" "" "0000518147" "0" "30" "3" "14183326" "14183326" "subst" "0.00749045" "02327" "TMEM43_000027" "g.14183326T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141826T>C" "" "likely benign" "" "0000518148" "0" "10" "3" "14183410" "14183410" "subst" "0" "02327" "TMEM43_000028" "g.14183410T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141910T>C" "" "benign" "" "0000518149" "0" "30" "3" "14189402" "14189402" "subst" "6.46192E-5" "01943" "TMEM43_000141" "g.14189402G>A" "" "" "" "XPC(NM_004628.4):c.2514+6C>T, XPC(NM_004628.5):c.2514+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14147902G>A" "" "likely benign" "" "0000518150" "0" "50" "3" "14190078" "14190078" "subst" "0.000454985" "01943" "TMEM43_000142" "g.14190078C>T" "" "" "" "XPC(NM_004628.4):c.2404G>A (p.G802S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148578C>T" "" "VUS" "" "0000518151" "0" "30" "3" "14190151" "14190151" "subst" "5.6862E-5" "02329" "TMEM43_000143" "g.14190151G>T" "" "" "" "XPC(NM_004628.5):c.2331C>A (p.P777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148651G>T" "" "likely benign" "" "0000518152" "0" "50" "3" "14190170" "14190170" "subst" "0" "01943" "TMEM43_000144" "g.14190170C>T" "" "" "" "XPC(NM_004628.4):c.2312G>A (p.C771Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14148670C>T" "" "VUS" "" "0000608349" "0" "30" "3" "14170981" "14170981" "subst" "0.00253055" "02327" "TMEM43_000004" "g.14170981C>T" "" "" "" "TMEM43(NM_024334.2):c.82C>T (p.R28W), TMEM43(NM_024334.3):c.82C>T (p.R28W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14129481C>T" "" "likely benign" "" "0000608350" "0" "30" "3" "14172311" "14172311" "subst" "0" "02327" "TMEM43_000145" "g.14172311T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130811T>G" "" "likely benign" "" "0000608351" "0" "30" "3" "14172405" "14172405" "subst" "7.32768E-5" "02327" "TMEM43_000095" "g.14172405G>A" "" "" "" "TMEM43(NM_024334.3):c.246G>A (p.P82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130905G>A" "" "likely benign" "" "0000608352" "0" "30" "3" "14172434" "14172434" "subst" "4.08744E-6" "02327" "TMEM43_000096" "g.14172434T>C" "" "" "" "TMEM43(NM_024334.3):c.275T>C (p.I92T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130934T>C" "" "likely benign" "" "0000608353" "0" "30" "3" "14174077" "14174077" "subst" "0.000556472" "02327" "TMEM43_000049" "g.14174077G>A" "" "" "" "TMEM43(NM_024334.2):c.424G>A (p.E142K), TMEM43(NM_024334.3):c.424G>A (p.E142K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132577G>A" "" "likely benign" "" "0000608354" "0" "30" "3" "14174082" "14174082" "subst" "6.90568E-5" "02330" "TMEM43_000124" "g.14174082G>A" "" "" "" "TMEM43(NM_024334.2):c.429G>A (p.T143=), TMEM43(NM_024334.3):c.429G>A (p.T143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132582G>A" "" "likely benign" "" "0000608355" "0" "10" "3" "14175305" "14175305" "subst" "0.000125883" "02330" "TMEM43_000146" "g.14175305G>A" "" "" "" "TMEM43(NM_024334.2):c.579G>A (p.S193=), TMEM43(NM_024334.3):c.579G>A (p.S193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14133805G>A" "" "benign" "" "0000608356" "0" "30" "3" "14176398" "14176398" "subst" "0.000390069" "02327" "TMEM43_000056" "g.14176398G>A" "" "" "" "TMEM43(NM_024334.2):c.705+7G>A, TMEM43(NM_024334.3):c.705+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14134898G>A" "" "likely benign" "" "0000608357" "0" "30" "3" "14176655" "14176655" "subst" "8.18444E-6" "02327" "TMEM43_000116" "g.14176655C>T" "" "" "" "TMEM43(NM_024334.3):c.706-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135155C>T" "" "likely benign" "" "0000608358" "0" "30" "3" "14177324" "14177324" "subst" "0.000114566" "02327" "TMEM43_000069" "g.14177324G>A" "" "" "" "TMEM43(NM_024334.2):c.798G>A (p.R266=), TMEM43(NM_024334.3):c.798G>A (p.R266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135824G>A" "" "likely benign" "" "0000608359" "0" "30" "3" "14180731" "14180731" "subst" "0.00984844" "02327" "TMEM43_000020" "g.14180731C>T" "" "" "" "TMEM43(NM_024334.2):c.934C>T (p.R312W), TMEM43(NM_024334.3):c.934C>T (p.R312W, p.(Arg312Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14139231C>T" "" "likely benign" "" "0000621188" "0" "10" "3" "14177390" "14177390" "subst" "5.71209E-5" "02330" "TMEM43_000130" "g.14177390C>T" "" "" "" "TMEM43(NM_024334.2):c.864C>T (p.H288=), TMEM43(NM_024334.3):c.864C>T (p.H288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135890C>T" "" "benign" "" "0000621189" "0" "30" "3" "14183233" "14183233" "subst" "2.03117E-5" "02326" "TMEM43_000065" "g.14183233G>A" "" "" "" "TMEM43(NM_024334.2):c.1141G>A (p.G381S), TMEM43(NM_024334.3):c.1141G>A (p.G381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141733G>A" "" "likely benign" "" "0000621190" "0" "30" "3" "14183242" "14183242" "subst" "8.12407E-6" "01943" "TMEM43_000147" "g.14183242C>T" "" "" "" "TMEM43(NM_024334.2):c.1150C>T (p.L384F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141742C>T" "" "likely benign" "" "0000621191" "0" "50" "3" "14189479" "14189479" "subst" "0" "01943" "TMEM43_000148" "g.14189479C>T" "" "" "" "XPC(NM_004628.4):c.2443G>A (p.E815K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14147979C>T" "" "VUS" "" "0000651083" "1" "30" "3" "14170981" "14170981" "subst" "0.00253055" "03575" "TMEM43_000004" "g.14170981C>T" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs35028636}" "Germline" "" "rs35028636" "0" "" "" "g.14129481C>T" "" "likely benign" "" "0000651084" "1" "50" "3" "14172328" "14172328" "subst" "8.94571E-5" "03575" "TMEM43_000041" "g.14172328G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs151010429}" "Germline" "" "rs151010429" "0" "" "" "g.14130828G>A" "" "VUS" "" "0000651085" "1" "50" "3" "14172381" "14172381" "subst" "0.00812079" "03575" "TMEM43_000006" "g.14172381C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs34099410}" "Germline" "" "rs34099410" "0" "" "" "g.14130881C>T" "" "VUS" "" "0000651086" "1" "50" "3" "14177328" "14177328" "subst" "0.000179937" "03575" "TMEM43_000070" "g.14177328C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs201138253}" "Germline" "" "rs201138253" "0" "" "" "g.14135828C>T" "" "VUS" "" "0000651087" "1" "30" "3" "14180731" "14180731" "subst" "0.00984844" "03575" "TMEM43_000020" "g.14180731C>T" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs113449357}" "Germline" "" "rs113449357" "0" "" "" "g.14139231C>T" "" "likely benign" "" "0000651088" "1" "50" "3" "14180744" "14180744" "subst" "0.000170563" "03575" "TMEM43_000077" "g.14180744G>C" "1/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199526104}" "Germline" "" "rs199526104" "0" "" "" "g.14139244G>C" "" "VUS" "" "0000651089" "1" "50" "3" "14183153" "14183153" "subst" "0.000438817" "03575" "TMEM43_000082" "g.14183153G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs187262922}" "Germline" "" "rs187262922" "0" "" "" "g.14141653G>C" "" "VUS" "" "0000651090" "1" "90" "3" "14183165" "14183165" "subst" "0" "03575" "TMEM43_000024" "g.14183165C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs63750743}" "Germline" "" "rs63750743" "0" "" "" "g.14141665C>T" "" "pathogenic" "" "0000653163" "1" "10" "3" "14174454" "14174454" "subst" "0.0132189" "03575" "TMEM43_000031" "g.14174454G>T" "34/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs114026215}" "Germline" "" "rs114026215" "0" "" "" "g.14132954G>T" "" "benign" "" "0000653461" "0" "50" "3" "14174077" "14174077" "subst" "0.000556472" "01164" "TMEM43_000049" "g.14174077G>A" "" "" "" "" "" "Germline" "" "rs145619906" "0" "" "" "g.14132577G>A" "" "VUS" "ACMG" "0000654814" "0" "50" "3" "14172373" "14172373" "subst" "2.84608E-5" "02330" "TMEM43_000149" "g.14172373G>A" "" "" "" "TMEM43(NM_024334.3):c.214G>A (p.V72M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14130873G>A" "" "VUS" "" "0000654815" "0" "50" "3" "14173143" "14173143" "subst" "2.84458E-5" "02326" "TMEM43_000150" "g.14173143A>G" "" "" "" "TMEM43(NM_024334.2):c.361A>G (p.M121V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14131643A>G" "" "VUS" "" "0000654816" "0" "30" "3" "14174082" "14174082" "subst" "6.90568E-5" "02325" "TMEM43_000124" "g.14174082G>A" "" "" "" "TMEM43(NM_024334.2):c.429G>A (p.T143=), TMEM43(NM_024334.3):c.429G>A (p.T143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132582G>A" "" "likely benign" "" "0000654817" "0" "30" "3" "14174107" "14174107" "subst" "0.000239746" "02326" "TMEM43_000106" "g.14174107G>C" "" "" "" "TMEM43(NM_024334.2):c.442+12G>C, TMEM43(NM_024334.3):c.442+12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14132607G>C" "" "likely benign" "" "0000654818" "0" "50" "3" "14176700" "14176700" "subst" "5.30933E-5" "02330" "TMEM43_000151" "g.14176700G>A" "" "" "" "TMEM43(NM_024334.3):c.748G>A (p.G250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14135200G>A" "" "VUS" "" "0000654819" "0" "30" "3" "14183232" "14183232" "subst" "1.21859E-5" "01943" "TMEM43_000136" "g.14183232C>T" "" "" "" "TMEM43(NM_024334.2):c.1140C>T (p.A380=), TMEM43(NM_024334.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14141732C>T" "" "likely benign" "" "0000670214" "0" "50" "3" "14174410" "14174410" "subst" "8.12117E-6" "01164" "TMEM43_000155" "g.14174410C>T" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual: Reason: found in 5 additional unaffected individuals, LoF is not a known pathomechanism" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000670217" "0" "50" "3" "14166694" "14166694" "subst" "4.27332E-6" "01164" "TMEM43_000154" "g.14166694A>G" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual: Reason: LoF is not a known pathomechanism" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000670218" "0" "50" "3" "14183113" "14183113" "subst" "1.63034E-5" "01164" "TMEM43_000153" "g.14183113C>T" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual. Reason: LoF is not a known pathomechanism" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000670219" "0" "50" "3" "14173133" "14173133" "dup" "0" "01164" "TMEM43_000152" "g.14173133dup" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual: LoF is not a known pathomechanism" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000670220" "0" "50" "3" "14183212" "14183213" "del" "0.000227439" "01164" "TMEM43_000087" "g.14183212_14183213del" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual: LoF is not a known pathomechanism" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000676839" "0" "30" "3" "14171020" "14171020" "subst" "4.87706E-5" "02326" "TMEM43_000030" "g.14171020A>G" "" "" "" "TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676840" "0" "10" "3" "14172319" "14172319" "del" "0" "02327" "TMEM43_000040" "g.14172319del" "" "" "" "TMEM43(NM_024334.2):c.163-3delC, TMEM43(NM_024334.3):c.163-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000676841" "0" "30" "3" "14176286" "14176286" "subst" "1.21828E-5" "02327" "TMEM43_000156" "g.14176286C>T" "" "" "" "TMEM43(NM_024334.2):c.600C>T (p.V200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676842" "0" "30" "3" "14180697" "14180697" "subst" "8.12196E-6" "01943" "TMEM43_000157" "g.14180697A>G" "" "" "" "TMEM43(NM_024334.2):c.900A>G (p.E300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688960" "0" "30" "3" "14180693" "14180693" "subst" "0.000483276" "01943" "TMEM43_000061" "g.14180693G>C" "" "" "" "TMEM43(NM_024334.2):c.896G>C (p.R299T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688961" "0" "50" "3" "14180802" "14180802" "del" "0" "02325" "TMEM43_000158" "g.14180802del" "" "" "" "TMEM43(NM_024334.3):c.1000+5delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000700687" "0" "50" "3" "14172373" "14172373" "subst" "2.84608E-5" "00006" "TMEM43_000149" "g.14172373G>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.14130873G>A" "" "VUS" "" "0000701685" "0" "50" "3" "14175246" "14175246" "subst" "4.06062E-6" "00006" "TMEM43_000052" "g.14175246G>A" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.14133746G>A" "" "VUS" "" "0000701686" "0" "50" "3" "14176311" "14176311" "subst" "0" "00006" "TMEM43_000055" "g.14176311T>G" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.14134811T>G" "" "VUS" "" "0000719223" "0" "30" "3" "14172319" "14172319" "del" "0" "02326" "TMEM43_000040" "g.14172319del" "" "" "" "TMEM43(NM_024334.2):c.163-3delC, TMEM43(NM_024334.3):c.163-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719224" "0" "50" "3" "14172338" "14172338" "subst" "4.0662E-6" "02330" "TMEM43_000159" "g.14172338C>T" "" "" "" "TMEM43(NM_024334.3):c.179C>T (p.T60M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719225" "0" "50" "3" "14176703" "14176703" "subst" "2.04342E-5" "02330" "TMEM43_000160" "g.14176703G>A" "" "" "" "TMEM43(NM_024334.2):c.751G>A (p.D251N), TMEM43(NM_024334.3):c.751G>A (p.D251N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719226" "0" "30" "3" "14176729" "14176729" "subst" "9.01735E-5" "01943" "TMEM43_000068" "g.14176729C>T" "" "" "" "TMEM43(NM_024334.2):c.777C>T (p.H259=), TMEM43(NM_024334.3):c.777C>T (p.H259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719227" "0" "50" "3" "14180813" "14180813" "subst" "5.28507E-5" "02326" "TMEM43_000080" "g.14180813G>A" "" "" "" "TMEM43(NM_024334.2):c.1000+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719228" "0" "30" "3" "14183197" "14183197" "subst" "0.00010154" "02326" "TMEM43_000063" "g.14183197C>T" "" "" "" "TMEM43(NM_024334.2):c.1105C>T (p.L369F), TMEM43(NM_024334.3):c.1105C>T (p.L369F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787437" "0" "70" "3" "14173099" "14173100" "del" "0" "00006" "TMEM43_000161" "g.14173099_14173100del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.316_317delTA" "secondary finding" "Germline" "" "" "0" "" "" "g.14131599_14131600del" "" "likely pathogenic" "" "0000801025" "0" "10" "3" "14170944" "14170944" "subst" "0" "02330" "CHCHD4_000002" "g.14170944C>G" "" "" "" "TMEM43(NM_024334.3):c.45C>G (p.V15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000823868" "3" "50" "3" "14174411" "14174411" "subst" "8.93321E-5" "03501" "TMEM43_000162" "g.14174411G>A" "" "{PMID:Karthikeyan 2024:39548682}" "" "" "" "Germline" "" "" "0" "" "" "g.14132911G>A" "" "VUS" "" "0000850154" "0" "30" "3" "14170944" "14170944" "subst" "0" "02327" "CHCHD4_000002" "g.14170944C>G" "" "" "" "TMEM43(NM_024334.3):c.45C>G (p.V15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850155" "0" "30" "3" "14174055" "14174055" "subst" "0.000134031" "02327" "TMEM43_000101" "g.14174055C>T" "" "" "" "TMEM43(NM_024334.3):c.402C>T (p.T134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850156" "0" "30" "3" "14174102" "14174102" "subst" "5.68796E-5" "01943" "TMEM43_000163" "g.14174102G>A" "" "" "" "TMEM43(NM_024334.2):c.442+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850157" "0" "30" "3" "14176287" "14176287" "subst" "8.93423E-5" "02327" "TMEM43_000126" "g.14176287G>A" "" "" "" "TMEM43(NM_024334.2):c.601G>A (p.D201N), TMEM43(NM_024334.3):c.601G>A (p.D201N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850158" "0" "30" "3" "14176670" "14176670" "subst" "0.000171576" "02327" "TMEM43_000057" "g.14176670C>T" "" "" "" "TMEM43(NM_024334.2):c.718C>T (p.R240C), TMEM43(NM_024334.3):c.718C>T (p.R240C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850159" "0" "30" "3" "14177370" "14177370" "subst" "8.15674E-6" "02330" "TMEM43_000060" "g.14177370A>G" "" "" "" "TMEM43(NM_024334.2):c.844A>G (p.T282A), TMEM43(NM_024334.3):c.844A>G (p.T282A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850160" "0" "50" "3" "14183159" "14183159" "subst" "0" "02327" "TMEM43_000165" "g.14183159C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850161" "0" "10" "3" "14183233" "14183233" "subst" "2.03117E-5" "02330" "TMEM43_000065" "g.14183233G>A" "" "" "" "TMEM43(NM_024334.2):c.1141G>A (p.G381S), TMEM43(NM_024334.3):c.1141G>A (p.G381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858826" "0" "30" "3" "14171020" "14171020" "subst" "4.87706E-5" "01943" "TMEM43_000030" "g.14171020A>G" "" "" "" "TMEM43(NM_024334.2):c.121A>G (p.M41V), TMEM43(NM_024334.3):c.121A>G (p.M41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858827" "0" "50" "3" "14174423" "14174423" "subst" "8.12123E-6" "02330" "TMEM43_000164" "g.14174423A>G" "" "" "" "TMEM43(NM_024334.3):c.500A>G (p.H167R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858828" "0" "90" "3" "14183165" "14183165" "subst" "0" "02330" "TMEM43_000024" "g.14183165C>T" "" "" "" "TMEM43(NM_024334.2):c.1073C>T (p.S358L), TMEM43(NM_024334.3):c.1073C>T (p.S358L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885572" "0" "30" "3" "14172324" "14172324" "subst" "0" "02327" "TMEM43_000166" "g.14172324C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885573" "0" "30" "3" "14172339" "14172339" "subst" "3.2528E-5" "02326" "TMEM43_000167" "g.14172339G>A" "" "" "" "TMEM43(NM_024334.2):c.180G>A (p.T60=), TMEM43(NM_024334.3):c.180G>A (p.T60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885574" "0" "50" "3" "14172444" "14172444" "subst" "0" "02330" "TMEM43_000168" "g.14172444A>C" "" "" "" "TMEM43(NM_024334.3):c.285A>C (p.L95F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885575" "0" "30" "3" "14175305" "14175305" "subst" "0.000125883" "02326" "TMEM43_000146" "g.14175305G>A" "" "" "" "TMEM43(NM_024334.2):c.579G>A (p.S193=), TMEM43(NM_024334.3):c.579G>A (p.S193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885576" "0" "30" "3" "14175327" "14175327" "subst" "0" "02326" "TMEM43_000169" "g.14175327C>G" "" "" "" "TMEM43(NM_024334.2):c.583+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885577" "0" "50" "3" "14176278" "14176278" "subst" "1.21835E-5" "02327" "TMEM43_000114" "g.14176278G>A" "" "" "" "TMEM43(NM_024334.2):c.592G>A (p.D198N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885578" "0" "10" "3" "14176384" "14176384" "subst" "0.00149117" "02326" "TMEM43_000015" "g.14176384A>G" "" "" "" "TMEM43(NM_024334.2):c.698A>G (p.Y233C), TMEM43(NM_024334.3):c.698A>G (p.Y233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885579" "0" "30" "3" "14176411" "14176411" "subst" "0" "02326" "TMEM43_000170" "g.14176411C>T" "" "" "" "TMEM43(NM_024334.2):c.705+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885580" "0" "50" "3" "14177379" "14177379" "subst" "1.22321E-5" "02326" "TMEM43_000171" "g.14177379C>T" "" "" "" "TMEM43(NM_024334.2):c.853C>T (p.L285F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885581" "0" "50" "3" "14180744" "14180744" "subst" "0.000170563" "02325" "TMEM43_000077" "g.14180744G>C" "" "" "" "TMEM43(NM_024334.3):c.947G>C (p.W316S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885582" "0" "10" "3" "14180750" "14180750" "subst" "0.00139708" "02326" "TMEM43_000021" "g.14180750C>T" "" "" "" "TMEM43(NM_024334.2):c.953C>T (p.A318V), TMEM43(NM_024334.3):c.953C>T (p.A318V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885583" "0" "50" "3" "14180756" "14180756" "subst" "8.12183E-6" "02330" "TMEM43_000172" "g.14180756T>G" "" "" "" "TMEM43(NM_024334.3):c.959T>G (p.F320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885584" "0" "50" "3" "14180766" "14180771" "del" "0" "02325" "TMEM43_000173" "g.14180766_14180771del" "" "" "" "TMEM43(NM_024334.3):c.969_974delCAACCT (p.N324_L325del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911837" "0" "30" "3" "14170988" "14170988" "subst" "0.00044682" "02325" "CHCHD4_000003" "g.14170988G>A" "" "" "" "TMEM43(NM_024334.3):c.89G>A (p.S30N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911838" "0" "10" "3" "14174146" "14174146" "subst" "0" "02325" "TMEM43_000009" "g.14174146T>C" "" "" "" "TMEM43(NM_024334.3):c.442+51T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911839" "0" "30" "3" "14176286" "14176286" "subst" "1.21828E-5" "02326" "TMEM43_000156" "g.14176286C>T" "" "" "" "TMEM43(NM_024334.2):c.600C>T (p.V200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923848" "0" "30" "3" "14173136" "14173136" "subst" "8.12599E-6" "02325" "TMEM43_000174" "g.14173136C>T" "" "" "" "TMEM43(NM_024334.3):c.354C>T (p.H118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928719" "0" "30" "3" "14175261" "14175261" "subst" "0" "01804" "TMEM43_000111" "g.14175261A>G" "" "" "" "TMEM43(NM_024334.2):c.535A>G (p.(Met179Val), p.M179V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928720" "0" "50" "3" "14176703" "14176703" "subst" "2.04342E-5" "02326" "TMEM43_000160" "g.14176703G>A" "" "" "" "TMEM43(NM_024334.2):c.751G>A (p.D251N), TMEM43(NM_024334.3):c.751G>A (p.D251N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928721" "0" "50" "3" "14180791" "14180791" "subst" "0" "02330" "TMEM43_000175" "g.14180791A>G" "" "" "" "TMEM43(NM_024334.3):c.994A>G (p.T332A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948045" "0" "10" "3" "14172339" "14172339" "subst" "3.2528E-5" "02330" "TMEM43_000167" "g.14172339G>A" "" "" "" "TMEM43(NM_024334.2):c.180G>A (p.T60=), TMEM43(NM_024334.3):c.180G>A (p.T60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948046" "0" "50" "3" "14173129" "14173129" "subst" "7.71956E-5" "02330" "TMEM43_000076" "g.14173129G>A" "" "" "" "TMEM43(NM_024334.3):c.347G>A (p.R116Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948047" "0" "30" "3" "14176670" "14176670" "subst" "2.45108E-5" "02325" "TMEM43_000176" "g.14176670C>G" "" "" "" "TMEM43(NM_024334.3):c.718C>G (p.R240G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948048" "0" "50" "3" "14180715" "14180715" "subst" "0" "02330" "TMEM43_000177" "g.14180715G>A" "" "" "" "TMEM43(NM_024334.3):c.918G>A (p.M306I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948049" "0" "10" "3" "14183212" "14183213" "del" "0.000227439" "02330" "TMEM43_000087" "g.14183212_14183213del" "" "" "" "TMEM43(NM_024334.3):c.1120_1121delCT (p.L374Vfs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962503" "0" "30" "3" "14166691" "14166691" "subst" "1.27913E-5" "02330" "CHCHD4_000004" "g.14166691A>G" "" "" "" "TMEM43(NM_024334.3):c.-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962504" "0" "10" "3" "14166691" "14166691" "subst" "0.000289937" "02330" "CHCHD4_000005" "g.14166691A>T" "" "" "" "TMEM43(NM_024334.3):c.-3A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962505" "0" "50" "3" "14172448" "14172448" "subst" "0" "02330" "TMEM43_000178" "g.14172448A>G" "" "" "" "TMEM43(NM_024334.3):c.289A>G (p.T97A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962506" "0" "50" "3" "14173115" "14173115" "subst" "2.84342E-5" "02326" "TMEM43_000179" "g.14173115G>A" "" "" "" "TMEM43(NM_024334.2):c.333G>A (p.P111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962508" "0" "10" "3" "14183153" "14183153" "subst" "0.000438817" "02330" "TMEM43_000082" "g.14183153G>C" "" "" "" "TMEM43(NM_024334.2):c.1061G>C (p.C354S), TMEM43(NM_024334.3):c.1061G>C (p.C354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962509" "0" "30" "3" "14189402" "14189402" "subst" "6.46192E-5" "02329" "TMEM43_000141" "g.14189402G>A" "" "" "" "XPC(NM_004628.4):c.2514+6C>T, XPC(NM_004628.5):c.2514+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962510" "0" "30" "3" "14189426" "14189426" "subst" "0.000854184" "02329" "TMEM43_000180" "g.14189426A>G" "" "" "" "XPC(NM_004628.5):c.2496T>C (p.I832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975611" "0" "10" "3" "14183232" "14183232" "subst" "1.21859E-5" "02330" "TMEM43_000136" "g.14183232C>T" "" "" "" "TMEM43(NM_024334.2):c.1140C>T (p.A380=), TMEM43(NM_024334.3):c.1140C>T (p.A380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989798" "0" "50" "3" "14183242" "14183242" "subst" "5.68685E-5" "02515" "TMEM43_000182" "g.14183242C>G" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs193922706" "0" "" "" "g.14141742C>G" "" "VUS" "" "0000989816" "0" "70" "3" "14171061" "14171061" "subst" "4.08047E-6" "02515" "TMEM43_000181" "g.14171061G>C" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs746126153" "0" "" "" "g.14129561G>C" "" "likely pathogenic" "" "0000993337" "0" "50" "3" "14173173" "14173173" "subst" "0" "02330" "TMEM43_000183" "g.14173173A>G" "" "" "" "TMEM43(NM_024334.3):c.391A>G (p.R131G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993338" "0" "10" "3" "14176252" "14176252" "subst" "4.06134E-6" "02330" "TMEM43_000184" "g.14176252C>T" "" "" "" "TMEM43(NM_024334.3):c.584-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993339" "0" "50" "3" "14177391" "14177391" "subst" "8.16213E-5" "02330" "TMEM43_000078" "g.14177391G>A" "" "" "" "TMEM43(NM_024334.3):c.865G>A (p.G289R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013822" "0" "30" "3" "14176287" "14176287" "subst" "8.93423E-5" "02326" "TMEM43_000126" "g.14176287G>A" "" "" "" "TMEM43(NM_024334.2):c.601G>A (p.D201N), TMEM43(NM_024334.3):c.601G>A (p.D201N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013823" "0" "50" "3" "14176335" "14176335" "subst" "0" "02330" "TMEM43_000185" "g.14176335G>A" "" "" "" "TMEM43(NM_024334.3):c.649G>A (p.D217N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013824" "0" "50" "3" "14183270" "14183270" "subst" "8.13259E-6" "02327" "TMEM43_000138" "g.14183270G>A" "" "" "" "TMEM43(NM_024334.2):c.1178G>A (p.(Arg393Gln)), TMEM43(NM_024334.3):c.1178G>A (p.R393Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024726" "0" "50" "3" "14173135" "14173135" "subst" "8.12565E-6" "02330" "TMEM43_000099" "g.14173135A>G" "" "" "" "TMEM43(NM_024334.2):c.353A>G (p.H118R), TMEM43(NM_024334.3):c.353A>G (p.H118R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024727" "0" "50" "3" "14183251" "14183251" "subst" "2.84373E-5" "02330" "TMEM43_000186" "g.14183251A>G" "" "" "" "TMEM43(NM_024334.3):c.1159A>G (p.I387V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024728" "0" "50" "3" "14183269" "14183269" "subst" "8.13345E-6" "02326" "TMEM43_000137" "g.14183269C>T" "" "" "" "TMEM43(NM_024334.2):c.1177C>T (p.R393W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033730" "0" "30" "3" "14177303" "14177303" "subst" "0" "02326" "TMEM43_000187" "g.14177303C>T" "" "" "" "TMEM43(NM_024334.2):c.781-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033731" "0" "50" "3" "14177359" "14177359" "subst" "4.0783E-6" "02330" "TMEM43_000188" "g.14177359A>G" "" "" "" "TMEM43(NM_024334.3):c.833A>G (p.K278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045479" "0" "30" "3" "14176700" "14176700" "subst" "5.30933E-5" "03779" "TMEM43_000151" "g.14176700G>A" "" "" "" "" "" "Unknown" "" "rs371797765" "0" "" "" "" "" "likely benign" "" ## 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 TMEM43 ## Count = 361 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000089001" "00021284" "50" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "11" "" "0000095208" "00021284" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Glu31Lys)" "2" "" "0000095294" "00021284" "50" "163" "-3" "163" "-3" "c.163-3del" "r.spl?" "p.?" "2i" "" "0000095537" "00021284" "50" "163" "-3" "163" "-3" "c.163-3del" "r.spl?" "p.?" "2i" "" "0000218443" "00021284" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "" "0000218450" "00021284" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Gly289Arg)" "" "" "0000246096" "00021284" "10" "504" "0" "504" "0" "c.504A>T" "r.(?)" "p.(Lys168Asn)" "" "" "0000246105" "00021284" "10" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "" "" "0000246155" "00021284" "10" "882" "17" "882" "17" "c.882+17A>G" "r.(=)" "p.(=)" "" "" "0000246173" "00021284" "50" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "" "" "0000247841" "00021284" "10" "504" "0" "504" "0" "c.504A>T" "r.(?)" "p.(Lys168Asn)" "" "" "0000249430" "00021284" "30" "893" "0" "893" "0" "c.893A>G" "r.(?)" "p.(His298Arg)" "" "" "0000250623" "00021284" "10" "504" "0" "504" "0" "c.504A>T" "r.(?)" "p.(Lys168Asn)" "" "" "0000251917" "00021284" "30" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Met179Val)" "" "" "0000252670" "00021284" "50" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(His118Arg)" "" "" "0000252780" "00021284" "50" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Thr282Ala)" "" "" "0000252975" "00021284" "10" "504" "0" "504" "0" "c.504A>T" "r.(?)" "p.(Lys168Asn)" "" "" "0000253390" "00021284" "10" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "" "" "0000256421" "00021284" "50" "413" "0" "413" "0" "c.413A>G" "r.(?)" "p.(Gln138Arg)" "" "" "0000256549" "00021284" "50" "829" "0" "829" "0" "c.829A>T" "r.(?)" "p.(Thr277Ser)" "" "" "0000309220" "00021284" "50" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Phe353Ser)" "" "" "0000309221" "00021284" "10" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000309222" "00021284" "30" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Leu369Phe)" "" "" "0000309223" "00021284" "10" "162" "18" "162" "18" "c.162+18T>C" "r.(=)" "p.(=)" "" "" "0000309224" "00021284" "10" "163" "-14" "163" "-14" "c.163-14C>T" "r.(=)" "p.(=)" "" "" "0000309225" "00021284" "10" "163" "-3" "163" "-3" "c.163-3del" "r.spl?" "p.?" "" "" "0000309226" "00021284" "10" "163" "-6" "163" "-6" "c.163-6T>A" "r.(=)" "p.(=)" "" "" "0000309227" "00021284" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Pro74=)" "" "" "0000309228" "00021284" "10" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Pro82=)" "" "" "0000309229" "00021284" "10" "297" "11" "297" "11" "c.297+11C>T" "r.(=)" "p.(=)" "" "" "0000309230" "00021284" "10" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Thr134=)" "" "" "0000309231" "00021284" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Asp136Asn)" "" "" "0000309232" "00021284" "10" "442" "12" "442" "12" "c.442+12G>C" "r.(=)" "p.(=)" "" "" "0000309233" "00021284" "10" "442" "9" "442" "15" "c.442+9_442+15del" "r.(=)" "p.(=)" "" "" "0000309234" "00021284" "10" "45" "0" "45" "0" "c.45C>A" "r.(?)" "p.(Val15=)" "" "" "0000309235" "00021284" "50" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Asp162Asn)" "" "" "0000309236" "00021284" "10" "512" "19" "512" "19" "c.512+19G>T" "r.(=)" "p.(=)" "" "" "0000309237" "00021284" "10" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Met179Thr)" "" "" "0000309238" "00021284" "30" "706" "-3" "706" "-3" "c.706-3C>T" "r.spl?" "p.?" "" "" "0000309239" "00021284" "10" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(His259=)" "" "" "0000309240" "00021284" "10" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "" "0000309241" "00021284" "50" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Trp)" "" "" "0000309242" "00021284" "10" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Trp)" "" "" "0000309243" "00021284" "50" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(His288Tyr)" "" "" "0000309244" "00021284" "10" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Ser303=)" "" "" "0000309245" "00021284" "50" "947" "0" "947" "0" "c.947G>C" "r.(?)" "p.(Trp316Ser)" "" "" "0000309246" "00021284" "10" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ala318Val)" "" "" "0000311878" "00021284" "50" "1220" "0" "1220" "0" "c.*17G>A" "r.(=)" "p.(=)" "" "" "0000311879" "00021284" "50" "1000" "5" "1000" "5" "c.1000+5G>T" "r.spl?" "p.?" "" "" "0000311880" "00021284" "50" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Phe353Ser)" "" "" "0000311881" "00021284" "50" "1120" "0" "1121" "0" "c.1120_1121del" "r.(?)" "p.(Leu374ValfsTer49)" "" "" "0000311882" "00021284" "30" "162" "21" "162" "21" "c.162+21C>T" "r.(=)" "p.(=)" "" "" "0000311883" "00021284" "30" "163" "-14" "163" "-14" "c.163-14C>T" "r.(=)" "p.(=)" "" "" "0000311884" "00021284" "10" "163" "-3" "163" "-3" "c.163-3del" "r.spl?" "p.?" "" "" "0000311885" "00021284" "30" "163" "-6" "163" "-6" "c.163-6T>A" "r.(=)" "p.(=)" "" "" "0000311886" "00021284" "30" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Pro74=)" "" "" "0000311887" "00021284" "50" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Ile92Thr)" "" "" "0000311888" "00021284" "30" "305" "0" "305" "0" "c.305C>G" "r.(?)" "p.(Ser102Cys)" "" "" "0000311889" "00021284" "50" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11Gln)" "" "" "0000311890" "00021284" "50" "446" "0" "446" "0" "c.446C>T" "r.(?)" "p.(Thr149Ile)" "" "" "0000311891" "00021284" "30" "512" "19" "512" "19" "c.512+19G>T" "r.(=)" "p.(=)" "" "" "0000311892" "00021284" "10" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Met179Thr)" "" "" "0000311893" "00021284" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "" "0000311894" "00021284" "30" "742" "0" "742" "0" "c.742C>A" "r.(?)" "p.(Leu248Met)" "" "" "0000311895" "00021284" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "" "0000311896" "00021284" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Trp)" "" "" "0000313745" "00021284" "30" "5390" "0" "5390" "0" "c.*4187T>G" "r.(=)" "p.(=)" "" "" "0000314562" "00021284" "30" "1061" "0" "1061" "0" "c.1061G>C" "r.(?)" "p.(Cys354Ser)" "" "" "0000314563" "00021284" "30" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000314564" "00021284" "10" "1111" "0" "1111" "0" "c.1111T>C" "r.(?)" "p.(Tyr371His)" "" "" "0000314565" "00021284" "30" "13" "-530" "13" "-530" "c.13-530del" "r.(=)" "p.(=)" "" "" "0000314566" "00021284" "10" "162" "21" "162" "21" "c.162+21C>T" "r.(=)" "p.(=)" "" "" "0000314567" "00021284" "10" "163" "-14" "163" "-14" "c.163-14C>T" "r.(=)" "p.(=)" "" "" "0000314568" "00021284" "30" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Gly55Asp)" "" "" "0000314569" "00021284" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Pro74=)" "" "" "0000314570" "00021284" "70" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(His118Tyr)" "" "" "0000314571" "00021284" "10" "512" "19" "512" "19" "c.512+19G>T" "r.(=)" "p.(=)" "" "" "0000314572" "00021284" "10" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Met179Thr)" "" "" "0000314573" "00021284" "50" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220Cys)" "" "" "0000314574" "00021284" "30" "708" "0" "708" "0" "c.708G>T" "r.(?)" "p.(Val236=)" "" "" "0000314575" "00021284" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "" "0000314576" "00021284" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(Ser249=)" "" "" "0000314577" "00021284" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "" "0000314578" "00021284" "10" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Trp)" "" "" "0000314579" "00021284" "10" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Ser303=)" "" "" "0000316702" "00021284" "10" "1219" "0" "1219" "0" "c.*16C>T" "r.(=)" "p.(=)" "" "" "0000316703" "00021284" "50" "1000" "16" "1000" "16" "c.1000+16G>A" "r.(=)" "p.(=)" "" "" "0000316704" "00021284" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Ser358=)" "" "" "0000316705" "00021284" "10" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000316706" "00021284" "10" "163" "-14" "163" "-14" "c.163-14C>T" "r.(=)" "p.(=)" "" "" "0000316707" "00021284" "30" "163" "-3" "163" "-3" "c.163-3del" "r.spl?" "p.?" "" "" "0000316709" "00021284" "30" "163" "-6" "163" "-6" "c.163-6T>A" "r.(=)" "p.(=)" "" "" "0000316710" "00021284" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Pro74=)" "" "" "0000316711" "00021284" "30" "392" "16" "392" "16" "c.392+16G>A" "r.(=)" "p.(=)" "" "" "0000316712" "00021284" "30" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Asp136Asn)" "" "" "0000316713" "00021284" "50" "421" "0" "423" "0" "c.421_423del" "r.(?)" "p.(Lys141del)" "" "" "0000316714" "00021284" "10" "442" "12" "442" "12" "c.442+12G>C" "r.(=)" "p.(=)" "" "" "0000316715" "00021284" "30" "45" "0" "45" "0" "c.45C>A" "r.(?)" "p.(Val15=)" "" "" "0000316716" "00021284" "50" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Asp162Asn)" "" "" "0000316717" "00021284" "30" "512" "15" "512" "15" "c.512+15C>T" "r.(=)" "p.(=)" "" "" "0000316718" "00021284" "10" "512" "19" "512" "19" "c.512+19G>T" "r.(=)" "p.(=)" "" "" "0000316719" "00021284" "30" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(Ala172=)" "" "" "0000316720" "00021284" "10" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Met179Thr)" "" "" "0000316721" "00021284" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Gly188=)" "" "" "0000316722" "00021284" "50" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Asp198Asn)" "" "" "0000316723" "00021284" "30" "742" "0" "742" "0" "c.742C>A" "r.(?)" "p.(Leu248Met)" "" "" "0000316724" "00021284" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "" "0000316725" "00021284" "10" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Trp)" "" "" "0000316726" "00021284" "10" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Ser303=)" "" "" "0000316727" "00021284" "10" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ala318Val)" "" "" "0000320063" "00021284" "50" "7965" "0" "7965" "0" "c.*6762C>T" "r.(=)" "p.(=)" "" "" "0000440032" "00021284" "50" "520" "0" "520" "0" "c.520G>A" "r.(?)" 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"p.(Tyr233Cys)" "" "" "0000518108" "00021284" "10" "705" "7" "705" "7" "c.705+7G>A" "r.(=)" "p.(=)" "" "" "0000518109" "00021284" "30" "705" "7" "705" "7" "c.705+7G>A" "r.(=)" "p.(=)" "" "" "0000518110" "00021284" "30" "705" "7" "705" "7" "c.705+7G>A" "r.(=)" "p.(=)" "" "" "0000518111" "00021284" "30" "705" "7" "705" "7" "c.705+7G>A" "r.(=)" "p.(=)" "" "" "0000518112" "00021284" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "" "0000518113" "00021284" "30" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Gly250=)" "" "" "0000518114" "00021284" "10" "780" "16" "780" "16" "c.780+16A>G" "r.(=)" "p.(=)" "" "" "0000518115" "00021284" "30" "829" "0" "829" "0" "c.829A>T" "r.(?)" "p.(Thr277Ser)" "" "" "0000518116" "00021284" "30" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Thr282Ala)" "" "" "0000518117" "00021284" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(His288=)" "" "" "0000518118" "00021284" "30" "882" "17" "882" "17" "c.882+17A>G" "r.(=)" "p.(=)" "" "" "0000518119" "00021284" "10" "909" "0" "909" "0" "c.909C>T" "r.(?)" "p.(Ser303=)" "" "" "0000518120" "00021284" "10" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "" "0000518121" "00021284" "10" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "" "0000518122" "00021284" "30" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "" "0000518123" "00021284" "30" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "" "0000518124" "00021284" "30" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "" "0000518126" "00021284" "30" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ala318Val)" "" "" "0000518127" "00021284" "10" "981" "0" "981" "0" "c.981A>G" "r.(?)" "p.(Thr327=)" "" "" "0000518128" "00021284" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328Gln)" "" "" "0000518129" "00021284" "10" "1001" "-8" "1001" "-8" "c.1001-8T>A" "r.(=)" "p.(=)" "" "" "0000518130" "00021284" "50" "1031" "0" "1031" "0" "c.1031T>G" "r.(?)" "p.(Val344Gly)" "" "" "0000518131" "00021284" "30" "1061" "0" "1061" "0" "c.1061G>C" "r.(?)" "p.(Cys354Ser)" "" "" "0000518132" "00021284" "30" "1061" "0" "1061" "0" "c.1061G>C" "r.(?)" "p.(Cys354Ser)" "" "" "0000518133" "00021284" "90" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Ser358Leu)" "" "" "0000518134" "00021284" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Ser358Leu)" "" "" "0000518135" "00021284" "10" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "" "0000518136" "00021284" "10" "1111" "0" "1111" "0" "c.1111T>C" "r.(?)" "p.(Tyr371His)" "" "" "0000518137" "00021284" "30" "1111" "0" "1111" "0" "c.1111T>C" "r.(?)" "p.(Tyr371His)" "" "" "0000518138" "00021284" "50" "1112" "0" "1112" "0" "c.1112A>G" "r.(?)" "p.(Tyr371Cys)" "" "" "0000518139" "00021284" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Ala380=)" "" "" "0000518140" "00021284" "30" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Trp)" "" "" "0000518141" "00021284" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "" "0000518142" "00021284" "30" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "" "0000518143" "00021284" "30" "1185" "0" "1185" "0" "c.1185A>G" "r.(?)" "p.(Pro395=)" "" "" "0000518144" "00021284" "10" "1211" "0" "1211" "0" "c.*8C>T" "r.(=)" "p.(=)" "" "" "0000518145" "00021284" "10" "1219" "0" "1219" "0" "c.*16C>T" "r.(=)" "p.(=)" "" "" "0000518146" "00021284" "10" "1219" "0" "1219" "0" "c.*16C>T" "r.(=)" "p.(=)" "" "" "0000518147" "00021284" "30" "1234" "0" "1234" "0" "c.*31T>C" "r.(=)" "p.(=)" "" "" "0000518148" "00021284" "10" "1318" "0" "1318" "0" "c.*115T>C" "r.(=)" "p.(=)" "" "" "0000518149" "00021284" "30" "7310" "0" "7310" "0" "c.*6107G>A" "r.(=)" "p.(=)" "" "" "0000518150" "00021284" "50" "7986" "0" "7986" "0" "c.*6783C>T" "r.(=)" "p.(=)" "" "" "0000518151" "00021284" "30" "8059" "0" "8059" "0" "c.*6856G>T" "r.(=)" "p.(=)" "" "" "0000518152" "00021284" "50" "8078" "0" "8078" "0" "c.*6875C>T" "r.(=)" "p.(=)" "" "" "0000608349" "00021284" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Trp)" "" "" "0000608350" "00021284" "30" "163" "-11" "163" "-11" "c.163-11T>G" "r.(=)" "p.(=)" "" "" "0000608351" "00021284" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Pro82=)" "" "" "0000608352" "00021284" "30" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Ile92Thr)" "" "" "0000608353" "00021284" "30" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Glu142Lys)" "" "" "0000608354" "00021284" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Thr143=)" "" "" "0000608355" "00021284" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Ser193=)" "" "" "0000608356" "00021284" "30" "705" "7" "705" "7" "c.705+7G>A" "r.(=)" "p.(=)" "" "" "0000608357" "00021284" "30" "706" "-3" "706" "-3" "c.706-3C>T" "r.spl?" "p.?" "" "" "0000608358" "00021284" "30" "798" "0" "798" "0" "c.798G>A" "r.(?)" "p.(Arg266=)" "" "" "0000608359" "00021284" "30" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "" "0000621188" "00021284" "10" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(His288=)" "" "" "0000621189" "00021284" "30" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Ser)" "" "" "0000621190" "00021284" "30" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Leu384Phe)" "" "" "0000621191" "00021284" "50" "7387" "0" "7387" "0" "c.*6184C>T" "r.(=)" "p.(=)" "" "" "0000651083" "00021284" "30" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Trp)" "" "" "0000651084" "00021284" "50" "169" "0" "169" "0" "c.169G>A" "r.(?)" "p.(Ala57Thr)" "" "" "0000651085" "00021284" "50" "222" "0" "222" "0" "c.222C>T" "r.(=)" "p.(=)" "" "" "0000651086" "00021284" "50" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Trp)" "" "" "0000651087" "00021284" "30" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312Trp)" "" "" "0000651088" "00021284" "50" "947" "0" "947" "0" "c.947G>C" "r.(?)" "p.(Trp316Ser)" "" "" "0000651089" "00021284" "50" "1061" "0" "1061" "0" "c.1061G>C" "r.(?)" "p.(Cys354Ser)" "" "" "0000651090" "00021284" "90" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Ser358Leu)" "" "" "0000653163" "00021284" "10" "512" "19" "512" "19" "c.512+19G>T" "r.(=)" "p.(=)" "" "" "0000653461" "00021284" "50" "424" "0" "424" "0" "c.424G>A" "r.(?)" "p.(Glu142Lys)" "" "" "0000654814" "00021284" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Val72Met)" "" "" "0000654815" "00021284" "50" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Met121Val)" "" "" "0000654816" "00021284" "30" "429" "0" "429" "0" "c.429G>A" "r.(?)" "p.(Thr143=)" "" "" "0000654817" "00021284" "30" "442" "12" "442" "12" "c.442+12G>C" "r.(=)" "p.(=)" "" "" "0000654818" "00021284" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" "" "" "0000654819" "00021284" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Ala380=)" "" "" "0000670214" "00021284" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163*)" "" "" "0000670217" "00021284" "50" "1" "0" "1" "0" "c.1A>G" "r.?" "p.?" "" "" "0000670218" "00021284" "50" "1021" "0" "1021" "0" "c.1021C>T" "r.(?)" "p.(Arg341*)" "" "" "0000670219" "00021284" "50" "351" "0" "351" "0" "c.351dup" "r.(?)" "p.(His118Alafs*11)" "" "" "0000670220" "00021284" "50" "1120" "0" "1121" "0" "c.1120_1121del" "r.(?)" "p.(Leu374Valfs*49)" "" "" "0000676839" "00021284" "30" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "" "" "0000676840" "00021284" "10" "163" "-3" "163" "-3" "c.163-3del" "r.spl?" "p.?" "" "" "0000676841" "00021284" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Val200=)" "" "" "0000676842" "00021284" "30" "900" "0" "900" "0" "c.900A>G" "r.(?)" "p.(Glu300=)" "" "" "0000688960" "00021284" "30" "896" "0" "896" "0" "c.896G>C" "r.(?)" "p.(Arg299Thr)" "" "" "0000688961" "00021284" "50" "1000" "5" "1000" "5" "c.1000+5del" "r.spl?" "p.?" "" "" "0000700687" "00021284" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Val72Met)" "" "" "0000701685" "00021284" "50" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Ala174Thr)" "" "" "0000701686" "00021284" "50" "625" "0" "625" "0" "c.625T>G" "r.(?)" "p.(Ser209Ala)" "" "" "0000719223" "00021284" "30" "163" "-3" "163" "-3" "c.163-3del" "r.spl?" "p.?" "" "" "0000719224" "00021284" "50" "179" "0" "179" "0" "c.179C>T" "r.(?)" "p.(Thr60Met)" "" "" "0000719225" "00021284" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Asp251Asn)" "" "" "0000719226" "00021284" "30" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(His259=)" "" "" "0000719227" "00021284" "50" "1000" "16" "1000" "16" "c.1000+16G>A" "r.(=)" "p.(=)" "" "" "0000719228" "00021284" "30" "1105" "0" "1105" "0" "c.1105C>T" "r.(?)" "p.(Leu369Phe)" "" "" "0000787437" "00021284" "70" "317" "0" "318" "0" "c.317_318del" "r.(?)" "p.(Tyr106TrpfsTer22)" "" "" "0000801025" "00021284" "10" "45" "0" "45" "0" "c.45C>G" "r.(?)" "p.(Val15=)" "" "" "0000823868" "00021284" "50" "488" "0" "488" "0" "c.488G>A" "r.(?)" "p.(Arg163Gln)" "6" "" "0000850154" "00021284" "30" "45" "0" "45" "0" "c.45C>G" "r.(?)" "p.(Val15=)" "" "" "0000850155" "00021284" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Thr134=)" "" "" "0000850156" "00021284" "30" "442" "7" "442" "7" "c.442+7G>A" "r.(=)" "p.(=)" "" "" "0000850157" "00021284" "30" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Asp201Asn)" "" "" "0000850158" "00021284" "30" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "" "0000850159" "00021284" "30" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Thr282Ala)" "" "" "0000850160" "00021284" "50" "1067" "0" "1067" "0" "c.1067C>A" "r.(?)" "p.(Ala356Asp)" "" "" "0000850161" "00021284" "10" "1141" "0" "1141" "0" "c.1141G>A" "r.(?)" "p.(Gly381Ser)" "" "" "0000858826" "00021284" "30" "121" "0" "121" "0" "c.121A>G" "r.(?)" "p.(Met41Val)" "" "" "0000858827" "00021284" "50" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(His167Arg)" "" "" "0000858828" "00021284" "90" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Ser358Leu)" "" "" "0000885572" "00021284" "30" "165" "0" "165" "0" "c.165C>G" "r.(?)" "p.(Gly55=)" "" "" "0000885573" "00021284" "30" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Thr60=)" "" "" "0000885574" "00021284" "50" "285" "0" "285" "0" "c.285A>C" "r.(?)" "p.(Leu95Phe)" "" "" "0000885575" "00021284" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Ser193=)" "" "" "0000885576" "00021284" "30" "583" "18" "583" "18" "c.583+18C>G" "r.(=)" "p.(=)" "" "" "0000885577" "00021284" "50" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Asp198Asn)" "" "" "0000885578" "00021284" "10" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Tyr233Cys)" "" "" "0000885579" "00021284" "30" "705" "20" "705" "20" "c.705+20C>T" "r.(=)" "p.(=)" "" "" "0000885580" "00021284" "50" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Leu285Phe)" "" "" "0000885581" "00021284" "50" "947" "0" "947" "0" "c.947G>C" "r.(?)" "p.(Trp316Ser)" "" "" "0000885582" "00021284" "10" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Ala318Val)" "" "" "0000885583" "00021284" "50" "959" "0" "959" "0" "c.959T>G" "r.(?)" "p.(Phe320Cys)" "" "" "0000885584" "00021284" "50" "969" "0" "974" "0" "c.969_974del" "r.(?)" "p.(Asn324_Leu325del)" "" "" "0000911837" "00021284" "30" "89" "0" "89" "0" "c.89G>A" "r.(?)" "p.(Ser30Asn)" "" "" "0000911838" "00021284" "10" "442" "51" "442" "51" "c.442+51T>C" "r.(=)" "p.(=)" "" "" "0000911839" "00021284" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Val200=)" "" "" "0000923848" "00021284" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(His118=)" "" "" "0000928719" "00021284" "30" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Met179Val)" "" "" "0000928720" "00021284" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Asp251Asn)" "" "" "0000928721" "00021284" "50" "994" "0" "994" "0" "c.994A>G" "r.(?)" "p.(Thr332Ala)" "" "" "0000948045" "00021284" "10" "180" "0" "180" "0" "c.180G>A" "r.(?)" "p.(Thr60=)" "" "" "0000948046" "00021284" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116Gln)" "" "" "0000948047" "00021284" "30" "718" "0" "718" "0" "c.718C>G" "r.(?)" "p.(Arg240Gly)" "" "" "0000948048" "00021284" "50" "918" "0" "918" "0" "c.918G>A" "r.(?)" "p.(Met306Ile)" "" "" "0000948049" "00021284" "10" "1120" "0" "1121" "0" "c.1120_1121del" "r.(?)" "p.(Leu374ValfsTer49)" "" "" "0000962503" "00021284" "30" "-3" "0" "-3" "0" "c.-3A>G" "r.(?)" "p.(=)" "" "" "0000962504" "00021284" "10" "-3" "0" "-3" "0" "c.-3A>T" "r.(?)" "p.(=)" "" "" "0000962505" "00021284" "50" "289" "0" "289" "0" "c.289A>G" "r.(?)" "p.(Thr97Ala)" "" "" "0000962506" "00021284" "50" "333" "0" "333" "0" "c.333G>A" "r.(?)" "p.(=)" "" "" "0000962508" "00021284" "10" "1061" "0" "1061" "0" "c.1061G>C" "r.(?)" "p.(Cys354Ser)" "" "" "0000962509" "00021284" "30" "7310" "0" "7310" "0" "c.*6107G>A" "r.(=)" "p.(=)" "" "" "0000962510" "00021284" "30" "7334" "0" "7334" "0" "c.*6131A>G" "r.(=)" "p.(=)" "" "" "0000975611" "00021284" "10" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Ala380=)" "" "" "0000989798" "00021284" "50" "1150" "0" "1150" "0" "c.1150C>G" "r.(?)" "p.(Leu384Val)" "" "" "0000989816" "00021284" "70" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Glu54Asp)" "" "" "0000993337" "00021284" "50" "391" "0" "391" "0" "c.391A>G" "r.(?)" "p.(Arg131Gly)" "" "" "0000993338" "00021284" "10" "584" "-18" "584" "-18" "c.584-18C>T" "r.(=)" "p.(=)" "" "" "0000993339" "00021284" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Gly289Arg)" "" "" "0001013822" "00021284" "30" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Asp201Asn)" "" "" "0001013823" "00021284" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Asp217Asn)" "" "" "0001013824" "00021284" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "" "0001024726" "00021284" "50" "353" "0" "353" "0" "c.353A>G" "r.(?)" "p.(His118Arg)" "" "" "0001024727" "00021284" "50" "1159" "0" "1159" "0" "c.1159A>G" "r.(?)" "p.(Ile387Val)" "" "" "0001024728" "00021284" "50" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Trp)" "" "" "0001033730" "00021284" "30" "781" "-4" "781" "-4" "c.781-4C>T" "r.spl?" "p.?" "" "" "0001033731" "00021284" "50" "833" "0" "833" "0" "c.833A>G" "r.(?)" "p.(Lys278Arg)" "" "" "0001045479" "00021284" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 71 "{{screeningid}}" "{{variantid}}" "0000058429" "0000089001" "0000064207" "0000095208" "0000064231" "0000095294" "0000064296" "0000095537" "0000129287" "0000218443" "0000129291" "0000218450" "0000209813" "0000440032" "0000211002" "0000442399" "0000211003" "0000442400" "0000211004" "0000442401" "0000211005" "0000442402" "0000211006" "0000442403" "0000211007" "0000442404" "0000211008" "0000442405" "0000211009" "0000442406" "0000211010" "0000442407" "0000211011" "0000442408" "0000211012" "0000442409" "0000211013" "0000442410" "0000211014" "0000442411" "0000211015" "0000442412" "0000211016" "0000442413" "0000211017" "0000442414" "0000211018" "0000442415" "0000211019" "0000442416" "0000211020" "0000442417" "0000211021" "0000442418" "0000211022" "0000442419" "0000211023" "0000442420" "0000211024" "0000442421" "0000211025" "0000442422" "0000211026" "0000442423" "0000211027" "0000442424" "0000211028" "0000442425" "0000211029" "0000442426" "0000211030" "0000442427" "0000211031" "0000442428" "0000211032" "0000442429" "0000211033" "0000442430" "0000211034" "0000442431" "0000211035" "0000442432" "0000211036" "0000442433" "0000211037" "0000442434" "0000211038" "0000442435" "0000211039" "0000442436" "0000211040" "0000442437" "0000211041" "0000442438" "0000211042" "0000442439" "0000211043" "0000442440" "0000294394" "0000651083" "0000294395" "0000651084" "0000294396" "0000651085" "0000294397" "0000651086" "0000294398" "0000651087" "0000294399" "0000651088" "0000294400" "0000651089" "0000294401" "0000651090" "0000296474" "0000653163" "0000296754" "0000653461" "0000306526" "0000670214" "0000306528" "0000670217" "0000306529" "0000670218" "0000306530" "0000670219" "0000306531" "0000670220" "0000318081" "0000700687" "0000319079" "0000701685" "0000319080" "0000701686" "0000376086" "0000787437" "0000393205" "0000823868" "0000454737" "0000989798" "0000454755" "0000989816"