### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPM1) # 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}}" "TPM1" "tropomyosin 1 (alpha)" "15" "q22.1" "unknown" "NG_007557.1" "UD_132118779161" "" "https://www.LOVD.nl/TPM1" "TPM1 in the Sarcomere Protein Gene Mutation Database " "1" "12010" "7168" "191010" "1" "1" "1" "1" "This database is one of the gene variant databases from the:\r\n
A TPM1 gene variant database has existed in the FHC Mutation Database" "" "g" "https://databases.lovd.nl/shared/refseq/TPM1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-05-01 00:00:00" "00006" "2019-12-30 19:33:29" "00000" "2025-09-24 11:50:03" ## 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}}" "00025358" "TPM1" "transcript variant 1" "006" "NM_001018005.1" "" "NP_001018005.1" "" "" "" "-191" "1049" "855" "63334838" "63358292" "00006" "2018-12-29 12:51:40" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{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" "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" "01225" "CMH3" "cardiomyopathy, hypertrophic, familial, type 3 (CMH-3)" "AD" "115196" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03067" "CMD1Y" "cardiomyopathy, dilated, type 1Y (CMD-1Y)" "AD" "611878" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04164" "NEM" "myopathy, nemaline (NEM)" "" "" "" "" "" "00006" "2014-12-22 16:43:09" "00006" "2018-07-06 19:02:59" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TPM1" "01225" "TPM1" "03067" ## Individuals ## Do not remove or alter this header ## ## Count = 136 "{{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}}" "00064082" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064160" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064205" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064219" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064289" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00065150" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y01m" "0" "" "" "Europe" "SIDS161" "00108707" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Italy" "" "0" "" "" "" "HCM" "00128404" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "108" "00154955" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00211994" "" "" "" "1" "" "00006" "{PMID:Van Driest:15519027}" "" "" "" "" "" "0" "" "" "" "" "00213422" "" "" "" "1" "" "00006" "{PMID:Jongbloed:12651045}" "" "" "" "" "" "0" "" "" "" "" "00213423" "" "" "" "1" "" "00006" "{PMID:NakajimaTaniguchi:8523464}, {PMID:YamauchiTakihara:8774330}" "" "" "" "" "" "0" "" "" "" "" "00213424" "" "" "" "1" "" "00006" "{PMID:YamauchiTakihara:8774330}" "" "" "" "" "" "0" "" "" "" "" "00213425" "" "" "" "1" "" "00006" "{PMID:Karibe:11136687}" "" "" "" "" "" "0" "" "" "" "" "00213426" "" "" "" "1" "" "00006" "{PMID:Thierfelder 1994:8205619}" "" "" "" "United States" "" "0" "" "" "" "08205619FamMI" "00213427" "" "" "" "1" "" "00006" "{PMID:Bottinelli:9440709}" "" "" "" "" "" "0" "" "" "" "" "00213428" "" "" "" "1" "" "00006" "{PMID:NakajimaTaniguchi:8523464}" "" "" "" "" "" "0" "" "" "" "" "00213429" "" "" "" "1" "" "00006" "{PMID:Watkins:7729014}, {PMID:Watkins:7898523}" "" "" "" "" "" "0" "" "" "" "" "00213430" "" "" "" "1" "" "00006" "{PMID:Thierfelder 1994:8205619}" "" "" "" "United States" "" "0" "" "" "" "08205619FamMZ" "00213431" "" "" "" "1" "" "00006" "{PMID:RegitzZagrosek:11044437}" "" "" "" "" "" "0" "" "" "" "" "00213432" "" "" "" "1" "" "00006" "{PMID:Van Driest 2002:12423715}, {PMID:Van Driest 2003:12860912}" "" "" "" "" "" "0" "" "" "" "" "00213433" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00213434" "" "" "" "1" "" "00006" "{PMID:Olson:11273725}" "" "" "" "" "" "0" "" "" "" "" "00213435" "" "" "" "1" "" "00006" "{PMID:Morita 2002:12858563}" "" "" "" "" "" "0" "" "" "" "" "00213436" "" "" "" "1" "" "00006" "{PMID:Olson:11273725}" "" "" "" "" "" "0" "" "" "" "" "00213437" "" "" "" "1" "" "00006" "{PMID:Frissso 2009:19659763}" "" "F" "" "" "" "0" "" "" "" "19659763-Pat28.1" "00213438" "" "" "" "1" "" "00006" "{PMID:Heller:12900417}" "" "" "" "" "" "0" "" "" "" "" "00213439" "" "" "" "1" "" "00006" "{PMID:YamauchiTakihara:8774330}" "" "" "" "" "" "0" "" "" "" "" "00213440" "" "" "" "1" "" "00006" "{PMID:Coviello:9060904}" "" "" "" "" "" "0" "" "" "" "" "00213441" "" "" "" "1" "" "00006" "{PMID:Jaaskelainen:9822100}" "" "" "" "" "" "0" "" "" "" "" "00213442" "" "" "" "1" "" "00006" "{PMID:Waldmuller:11968089}" "" "" "" "" "" "0" "" "" "" "" "00213443" "" "" "" "1" "" "00006" "{PMID:Hedman:14734051}" "" "" "" "" "" "0" "" "" "" "" "00213444" "" "" "" "1" "" "00006" "{PMID:Sipola:16014439}" "" "" "" "" "" "0" "" "" "" "" "00213445" "" "" "" "1" "" "00006" "{PMID:Poutanen:16504640}" "" "" "" "" "" "0" "" "" "" "" "00213446" "" "" "" "1" "" "00006" "{PMID:Prabhakar:11603924}" "" "" "" "" "" "0" "" "" "" "" "00213447" "" "" "" "4" "" "00006" "{PMID:Earing 2003:12778034}" "affected girl and 3 affected family members (father, 2 brothers)" "F" "" "United States" "8y" "0" "" "" "" "" "00213448" "" "" "" "1" "" "00006" "{PMID:Thierfelder 1994:8205619}" "" "" "" "United States" "" "0" "" "" "" "08205619c" "00213449" "" "" "" "1" "" "00568" "{PMID:Sambuughin 2010:21109227}" "" "" "" "" "" "0" "" "" "" "21109227-Fam" "00213450" "" "" "" "1" "" "00006" "{PMID:Hoedemaekers 2010:20530761}" "" "" "" "Netherlands" "" "0" "" "" "" "20530761-Fam23" "00213451" "" "" "" "1" "" "00006" "{PMID:Van Driest 2003:12860912}" "" "" "" "" "" "0" "" "" "" "" "00213452" "" "" "" "15" "" "00006" "{PMID:Lakdawala 2010:20117437}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20117437FamA" "00213453" "" "" "" "7" "" "00006" "{PMID:Lakdawala 2010:20117437}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "20117437FamB" "00213454" "" "" "" "2" "" "00006" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "" "20215591-PatC1" "00213455" "" "" "" "3" "" "00006" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "" "20215591-PatC2" "00213456" "" "" "" "1" "" "00006" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "" "20215591-PatC3" "00213457" "" "" "" "1" "" "00006" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "" "20215591-PatC4" "00213458" "" "" "" "1" "" "00006" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "" "20215591-PatC5" "00213459" "" "" "" "1" "" "00006" "{PMID:Hershberger 2010:20215591}" "" "" "" "United States" "" "0" "" "" "African American" "20215591-PatC6" "00213460" "" "" "" "7" "" "00006" "{PMID:Chang 2011:20965760}" "3-generation family, 7 affecteds (sister, mother, aunt, grandmother+2 suisters)" "M" "" "Japan" "" "0" "" "" "" "20965760-Fam1III3" "00213461" "" "" "" "1" "" "00006" "{PMID:Morita 2008:18403758}" "childhood onset" "" "" "United States" "" "0" "" "" "" "18403758Pat?" "00213462" "" "" "" "1" "" "00006" "{PMID:Morita 2008:18403758}" "childhood onset" "" "" "United States" "" "0" "" "" "" "18403758Pat?" "00213463" "" "" "" "1" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "United States" "" "0" "" "" "" "" "00213464" "" "" "" "1" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "United States" "" "0" "" "" "" "" "00213465" "" "" "" "1" "" "00006" "{PMID:Andersen 2009:19035361}" "" "" "" "Denmark" "" "0" "" "" "" "PatZE" "00213466" "" "" "" "1" "" "00006" "{PMID:Hoedemaekers 2010:20530761}" "" "" "" "Netherlands" "" "0" "" "" "" "20530761-Fam21" "00213467" "" "" "" "67" "" "00006" "{PMID:Fokstuen 2011:21239446}" "" "" "" "" "" "0" "" "" "" "21239446?" "00213468" "" "" "" "19" "" "00006" "{PMID:Fokstuen 2011:21239446}" "" "" "" "" "" "0" "" "" "" "21239446?" "00213469" "" "" "" "1" "" "00006" "{PMID:Fokstuen 2011:21239446}" "" "" "" "" "" "0" "" "" "" "21239446?" "00213470" "" "" "" "4" "" "00006" "{PMID:Probst 2011:21551322}" "" "" "" "United States" "" "0" "" "" "" "21551322-LVNC117" "00213471" "" "" "" "1" "" "00006" "{PMID:Probst 2011:21551322}" "" "" "" "United States" "" "0" "" "" "" "21551322-KR" "00213472" "" "" "" "1" "" "00006" "{PMID:Morita 2002:12858563}" "" "" "" "United States" "" "0" "" "" "" "" "00213473" "" "" "" "1" "" "00006" "{PMID:Watkins 1995:7898523}" "" "" "" "United States" "" "0" "" "" "" "07898523-PatDB" "00291270" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291271" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291272" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291273" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316802" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316803" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316804" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316805" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316806" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316807" "" "" "" "4" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316808" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316809" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316810" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316811" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316812" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316813" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316814" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316815" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316816" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316817" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316907" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316908" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316909" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316910" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316911" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317672" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317673" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317674" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317675" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317676" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317677" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317678" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317679" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317680" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317681" "" "" "" "4" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317682" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317683" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317684" "" "" "" "13" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317685" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317686" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317687" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317688" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317689" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317690" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317691" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317692" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317693" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317694" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317918" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317919" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317920" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317921" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317922" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317923" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317924" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317925" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317926" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317927" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317928" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317929" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317930" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317931" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317932" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00376430" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat194" "00376434" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat208" "00376441" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat271" "00417641" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417665" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00419654" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "20045" "00446766" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat40" "00446806" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat90" "00446809" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat94" "00446854" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat156" "00446875" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat187" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 136 "{{individualid}}" "{{diseaseid}}" "00064082" "00351" "00064160" "00351" "00064205" "00351" "00064219" "00351" "00064289" "00351" "00065150" "02087" "00108707" "00351" "00128404" "00198" "00154955" "00198" "00211994" "00351" "00213422" "00351" "00213423" "00351" "00213424" "00351" "00213425" "00351" "00213426" "00351" "00213427" "00351" "00213428" "00351" "00213429" "00351" "00213430" "00351" "00213431" "00351" "00213432" "00351" "00213433" "00351" "00213434" "00352" "00213435" "00351" "00213436" "00352" "00213437" "00351" "00213438" "00351" "00213439" "00351" "00213440" "00351" "00213441" "00351" "00213442" "00351" "00213443" "00351" "00213444" "00351" "00213445" "00351" "00213446" "00351" "00213447" "00351" "00213448" "00000" "00213449" "04164" "00213450" "04173" "00213451" "00351" "00213452" "00352" "00213453" "00352" "00213454" "00352" "00213455" "00352" "00213456" "00352" "00213457" "00352" "00213458" "00352" "00213459" "00352" "00213460" "04173" "00213461" "00351" "00213462" "00351" "00213463" "00351" "00213464" "00351" "00213465" "00351" "00213466" "04173" "00213467" "00351" "00213468" "00351" "00213469" "00351" "00213470" "04173" "00213471" "04173" "00213472" "00351" "00213473" "00351" "00291270" "00198" "00291271" "00198" "00291272" "00198" "00291273" "00198" "00316802" "04172" "00316803" "04172" "00316804" "04172" "00316805" "04172" "00316806" "04172" "00316807" "04172" "00316808" "04172" "00316809" "04172" "00316810" "04172" "00316811" "04172" "00316812" "04172" "00316813" "04172" "00316814" "04172" "00316815" "04172" "00316816" "04172" "00316817" "04172" "00316907" "04172" "00316908" "04172" "00316909" "04172" "00316910" "04172" "00316911" "04172" "00317672" "04172" "00317673" "04172" "00317674" "04172" "00317675" "04172" "00317676" "04172" "00317677" "04172" "00317678" "04172" "00317679" "04172" "00317680" "04172" "00317681" "04172" "00317682" "04172" "00317683" "04172" "00317684" "04172" "00317685" "04172" "00317686" "04172" "00317687" "04172" "00317688" "04172" "00317689" "04172" "00317690" "04172" "00317691" "04172" "00317692" "04172" "00317693" "04172" "00317694" "04172" "00317918" "04172" "00317919" "04172" "00317920" "04172" "00317921" "04172" "00317922" "04172" "00317923" "04172" "00317924" "04172" "00317925" "04172" "00317926" "04172" "00317927" "04172" "00317928" "04172" "00317929" "04172" "00317930" "04172" "00317931" "04172" "00317932" "04172" "00376430" "00352" "00376434" "00352" "00376441" "00352" "00417641" "00351" "00417665" "00351" "00419654" "00198" "00446766" "04173" "00446806" "04173" "00446809" "04173" "00446854" "04173" "00446875" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 00352, 01225, 02087, 03067, 04164, 04172, 04173 ## Count = 129 "{{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}}" "0000050598" "00351" "00064082" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050676" "00351" "00064160" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050721" "00351" "00064205" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050735" "00351" "00064219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050805" "00351" "00064289" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000051255" "02087" "00065150" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000086181" "00351" "00108707" "01401" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100620" "00198" "00128404" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000127687" "00198" "00154955" "01807" "Unknown" "" "Dilated cardiomyopathy (HP:0001644); Left ventricular noncompaction cardiomyopathy (HP:0011664)" "" "" "" "" "" "" "" "" "" "" "" "0000160476" "00351" "00211994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-4" "hypertrophic cardiomyopathy" "" "0000161886" "00351" "00213422" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161887" "00351" "00213423" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161888" "00351" "00213424" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161889" "00351" "00213425" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161890" "00351" "00213426" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161891" "00351" "00213427" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161892" "00351" "00213428" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161893" "00351" "00213429" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161894" "00351" "00213430" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161895" "00351" "00213431" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161896" "00351" "00213432" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161897" "00351" "00213433" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161898" "00352" "00213434" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161899" "00351" "00213435" "00006" "Unknown" "" "http://genepath.med.harvard.edu/~seidman/cg3/muts/TPM1_Glu192Lys.html" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161900" "00352" "00213436" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161901" "00351" "00213437" "00006" "Familial" "" "" "" "13y" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161902" "00351" "00213438" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161903" "00351" "00213439" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161904" "00351" "00213440" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161905" "00351" "00213441" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161906" "00351" "00213442" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161907" "00351" "00213443" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161908" "00351" "00213444" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161909" "00351" "00213445" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161910" "00351" "00213446" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161911" "00351" "00213447" "00006" "Familial" "" "sudden cardiac death; carrier family members abnormal left ventricular diastolic filling pattern" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161912" "04164" "00213449" "00568" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "nemaline myopathy" "" "0000161913" "04173" "00213450" "00006" "Isolated (sporadic)" "" "unaffected carrier parents/grandparents" "" "" "" "" "" "" "" "" "CMD-1Y" "left ventricular noncompaction cardiomyopathy" "" "0000161914" "00351" "00213451" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000161915" "00352" "00213452" "00006" "Familial, autosomal dominant" "" "4generation family, 14 affecteds, 1 unaffected carrier" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161916" "00352" "00213453" "00006" "Familial, autosomal dominant" "" "3generation family, 7 affecteds" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161917" "00352" "00213454" "00006" "Familial" "" "family, 2 affecteds" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161918" "00352" "00213455" "00006" "Familial" "" "family, 3 affecteds" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161919" "00352" "00213456" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161920" "00352" "00213457" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161921" "00352" "00213458" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161922" "00352" "00213459" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "dilated cardiomyopathy" "" "0000161923" "04173" "00213460" "00006" "Familial, autosomal dominant" "" "sudden death" "" "" "" "" "" "" "" "" "CMD-1Y" "left ventricular noncompaction cardiomyopathy" "" "0000161924" "00351" "00213461" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161925" "00351" "00213462" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161926" "00351" "00213463" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161927" "00351" "00213464" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161928" "00351" "00213465" "00006" "Unknown" "" "1 affected" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161929" "04173" "00213466" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "left ventricular noncompaction cardiomyopathy" "" "0000161930" "00351" "00213467" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161931" "00351" "00213468" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161932" "00351" "00213469" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161933" "04173" "00213470" "00006" "Familial, autosomal dominant" "" "3-generation family, 4 affecteds" "" "" "" "" "" "" "" "" "CMD-1Y" "left ventricular noncompaction cardiomyopathy" "" "0000161934" "04173" "00213471" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "CMD-1Y" "left ventricular noncompaction cardiomyopathy" "" "0000161935" "00351" "00213472" "00006" "Unknown" "" "http://genepath.med.harvard.edu/~seidman/cg3/muts/TPM1_Val95Ala.html" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000161936" "00351" "00213473" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "CMH-3" "hypertrophic cardiomyopathy" "" "0000240548" "04172" "00316802" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240549" "04172" "00316803" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240550" "04172" "00316804" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240551" "04172" "00316805" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240552" "04172" "00316806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240553" "04172" "00316807" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240554" "04172" "00316808" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240555" "04172" "00316809" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240556" "04172" "00316810" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240557" "04172" "00316811" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240558" "04172" "00316812" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240559" "04172" "00316813" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240560" "04172" "00316814" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240561" "04172" "00316815" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240562" "04172" "00316816" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240563" "04172" "00316817" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240653" "04172" "00316907" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240654" "04172" "00316908" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240655" "04172" "00316909" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240656" "04172" "00316910" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240657" "04172" "00316911" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241418" "04172" "00317672" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241419" "04172" "00317673" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241420" "04172" "00317674" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241421" "04172" "00317675" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241422" "04172" "00317676" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241423" "04172" "00317677" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241424" "04172" "00317678" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241425" "04172" "00317679" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241426" "04172" "00317680" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241427" "04172" "00317681" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241428" "04172" "00317682" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241429" "04172" "00317683" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241430" "04172" "00317684" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241431" "04172" "00317685" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241432" "04172" "00317686" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241433" "04172" "00317687" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241434" "04172" "00317688" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241435" "04172" "00317689" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241436" "04172" "00317690" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241437" "04172" "00317691" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241438" "04172" "00317692" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241439" "04172" "00317693" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241440" "04172" "00317694" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241664" "04172" "00317918" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241665" "04172" "00317919" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241666" "04172" "00317920" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241667" "04172" "00317921" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241668" "04172" "00317922" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241669" "04172" "00317923" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241670" "04172" "00317924" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241671" "04172" "00317925" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241672" "04172" "00317926" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241673" "04172" "00317927" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241674" "04172" "00317928" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241675" "04172" "00317929" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241676" "04172" "00317930" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241677" "04172" "00317931" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241678" "04172" "00317932" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000271638" "00352" "00376430" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000271642" "00352" "00376434" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000271649" "00352" "00376441" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000310935" "00198" "00419654" "02300" "Isolated (sporadic)" "16y" "" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000335970" "04173" "00446766" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336010" "04173" "00446806" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336013" "04173" "00446809" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336058" "04173" "00446854" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336079" "04173" "00446875" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 136 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064215" "00064082" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064293" "00064160" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064338" "00064205" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064352" "00064219" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064422" "00064289" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000065301" "00065150" "1" "01602" "01602" "2016-05-19 14:45:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000109172" "00108707" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000129242" "00128404" "1" "02244" "02244" "2017-09-15 15:50:17" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000155816" "00154955" "0" "01807" "01807" "2018-03-07 03:58:35" "" "" "SEQ" "DNA" "" "" "0000213070" "00211994" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-03-31 18:46:31" "SEQ" "DNA" "" "" "0000214492" "00213422" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214493" "00213423" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214494" "00213424" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214495" "00213425" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" 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18:48:03" "SEQ" "DNA" "" "" "0000214505" "00213435" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-04-01 12:59:41" "SEQ" "DNA" "" "" "0000214506" "00213436" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-03-31 18:48:03" "SEQ" "DNA" "" "" "0000214507" "00213437" "1" "00006" "00006" "2010-07-23 16:35:15" "00006" "2012-04-15 17:48:13" "SEQ" "DNA" "" "" "0000214508" "00213438" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214509" "00213439" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214510" "00213440" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214511" "00213441" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214512" "00213442" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214513" "00213443" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214514" "00213444" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214515" "00213445" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214516" "00213446" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-03-31 18:47:24" "SEQ" "DNA" "" "" "0000214517" "00213447" "1" "00006" "00006" "2010-07-23 21:32:48" "00006" "2012-04-01 17:11:23" "SEQ" "DNA" "" "" "0000214518" "00213448" "1" "00006" "00006" "2010-07-24 12:32:10" "00006" "2012-03-04 15:57:58" "SEQ" "DNA" "" "" "0000214519" "00213449" "1" "00568" "00006" "2010-12-11 18:32:28" "00006" "2012-03-31 18:44:30" "SEQ" "DNA" "" "" "0000214520" "00213450" "1" "00006" "00006" "2012-03-31 18:42:46" "" "" "SEQ" "DNA" "" "" "0000214521" "00213451" "1" "00006" "00006" "2012-03-31 18:42:46" "" "" "SEQ" "DNA" "" "" "0000214522" "00213452" "1" "00006" "00006" "2012-03-31 18:42:46" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000214523" "00213453" "1" "00006" "00006" "2012-03-31 18:42:46" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000214524" "00213454" "1" "00006" "00006" "2012-03-31 18:42:46" "00006" "2012-04-01 11:01:57" "SEQ" "DNA" "" "" "0000214525" "00213455" "1" "00006" "00006" "2012-03-31 18:42:46" "00006" "2012-04-01 11:01:00" "SEQ" "DNA" "" "" "0000214526" "00213456" "1" "00006" "00006" "2012-03-31 18:42:46" "00006" "2012-04-01 11:03:45" "SEQ" "DNA" "" "" "0000214527" "00213457" "1" "00006" "00006" "2012-03-31 18:42:46" "" "" "SEQ" "DNA" "" "" "0000214528" "00213458" "1" "00006" "00006" "2012-03-31 18:42:46" "" "" "SEQ" "DNA" "" "" "0000214529" "00213459" "1" "00006" "00006" "2012-03-31 18:42:46" "" "" "SEQ" "DNA" "" "" "0000214530" "00213460" "1" "00006" "00006" "2012-03-31 18:42:46" "00006" "2012-04-01 17:16:50" "SEQ" "DNA" "" "" "0000214531" "00213461" "1" "00006" "00006" "2012-03-31 18:42:46" "" "" "SEQ" "DNA" "" "" "0000214532" "00213462" "1" 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"1" "00006" "00006" "2013-06-14 16:52:15" "" "" "SEQ" "DNA" "" "" "0000292438" "00291270" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292439" "00291271" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292440" "00291272" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292441" "00291273" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317984" "00316802" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317985" "00316803" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317986" "00316804" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317987" "00316805" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317988" "00316806" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317989" "00316807" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317990" "00316808" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317991" "00316809" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317992" "00316810" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317993" "00316811" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317994" "00316812" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317995" "00316813" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317996" "00316814" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317997" "00316815" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317998" "00316816" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317999" "00316817" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318089" "00316907" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318090" "00316908" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318091" "00316909" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318092" "00316910" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" 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"00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319101" "00317919" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319102" "00317920" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319103" "00317921" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319104" "00317922" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319105" "00317923" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319106" "00317924" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319107" "00317925" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319108" "00317926" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319109" "00317927" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319110" "00317928" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319111" "00317929" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319112" "00317930" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319113" "00317931" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319114" "00317932" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000377635" "00376430" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel" "0000377639" "00376434" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel" "0000377646" "00376441" "1" "00006" "00006" "2021-06-22 13:15:11" "" "" "SEQ-NG" "DNA" "" "58-gene panel" "0000418935" "00417641" "1" "04384" "04384" "2022-09-21 10:02:54" "" "" "SEQ-NG" "DNA" "" "" "0000418958" "00417665" "1" "04384" "04384" "2022-09-21 12:22:51" "" "" "SEQ-NG" "DNA" "" "" "0000420958" "00419654" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000448341" "00446766" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448381" "00446806" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448384" "00446809" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448429" "00446854" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448450" "00446875" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 123 "{{screeningid}}" "{{geneid}}" "0000064215" "TTN" "0000064293" "TTN" "0000064338" "TTN" "0000064352" "TTN" "0000064422" "TPM1" "0000213070" "MYBPC3" "0000213070" "TPM1" "0000214492" "TPM1" "0000214493" "TPM1" "0000214494" "TPM1" "0000214495" "TPM1" "0000214496" "TPM1" "0000214497" "TPM1" "0000214498" "TPM1" "0000214499" "TPM1" "0000214500" "TPM1" "0000214501" "TPM1" "0000214502" "TPM1" "0000214503" "TPM1" "0000214504" "TPM1" "0000214505" "TPM1" "0000214506" "TPM1" "0000214507" "TPM1" "0000214508" "TPM1" "0000214509" "TPM1" "0000214510" "TPM1" "0000214511" "TPM1" "0000214512" "TPM1" "0000214513" "TPM1" "0000214514" "TPM1" "0000214515" "TPM1" "0000214516" "TPM1" "0000214517" "TPM1" "0000214518" "TPM1" "0000214519" "TPM1" "0000214520" "TPM1" "0000214521" "TPM1" "0000214522" "TPM1" "0000214523" "TPM1" "0000214524" "TPM1" "0000214525" "TPM1" "0000214526" "TPM1" "0000214527" "TPM1" "0000214528" "TPM1" "0000214529" "TPM1" "0000214530" "TPM1" "0000214531" "TPM1" "0000214532" "TPM1" "0000214533" "TPM1" "0000214534" "TPM1" "0000214535" "TPM1" "0000214536" "TPM1" "0000214537" "TPM1" "0000214538" "TPM1" "0000214539" "TPM1" "0000214540" "TPM1" "0000214541" "TPM1" "0000214542" "TPM1" "0000214543" "TPM1" "0000317984" "TPM1" "0000317985" "TPM1" "0000317986" "TPM1" "0000317987" "TPM1" "0000317988" "TPM1" "0000317989" "TPM1" "0000317990" "TPM1" "0000317991" "TPM1" "0000317992" "TPM1" "0000317993" "TPM1" "0000317994" "TPM1" "0000317995" "TPM1" "0000317996" "TPM1" "0000317997" "TPM1" "0000317998" "TPM1" "0000317999" "TPM1" "0000318089" "TPM1" "0000318090" "TPM1" "0000318091" "TPM1" "0000318092" "TPM1" "0000318093" "TPM1" "0000318854" "TPM1" "0000318855" "TPM1" "0000318856" "TPM1" "0000318857" "TPM1" "0000318858" "TPM1" "0000318859" "TPM1" "0000318860" "TPM1" "0000318861" "TPM1" "0000318862" "TPM1" "0000318863" "TPM1" "0000318864" "TPM1" "0000318865" "TPM1" "0000318866" "TPM1" "0000318867" "TPM1" "0000318868" "TPM1" "0000318869" "TPM1" "0000318870" "TPM1" "0000318871" "TPM1" "0000318872" "TPM1" "0000318873" "TPM1" "0000318874" "TPM1" "0000318875" "TPM1" "0000318876" "TPM1" "0000319100" "TPM1" "0000319101" "TPM1" "0000319102" "TPM1" "0000319103" "TPM1" "0000319104" "TPM1" "0000319105" "TPM1" "0000319106" "TPM1" "0000319107" "TPM1" "0000319108" "TPM1" "0000319109" "TPM1" "0000319110" "TPM1" "0000319111" "TPM1" "0000319112" "TPM1" "0000319113" "TPM1" "0000319114" "TPM1" "0000377635" "TPM1" "0000377639" "TPM1" "0000377646" "TPM1" "0000418935" "TPM1" "0000418958" "TPM1" ## 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 = 396 "{{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}}" "0000095235" "0" "50" "15" "63351759" "63351759" "subst" "0.00163684" "00006" "TPM1_000042" "g.63351759C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001018020:c.375-3C>T" "" "Germline" "" "" "0" "" "" "g.63059560C>T" "" "VUS" "" "0000095526" "0" "50" "15" "63351853" "63351853" "subst" "0" "00006" "TPM1_000044" "g.63351853G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "G466A (E192K)" "" "Germline" "" "" "0" "" "" "g.63059654G>A" "" "VUS" "" "0000095673" "0" "50" "15" "63351757" "63351757" "subst" "0.00025182" "00006" "TPM1_000041" "g.63351757T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "" "" "Germline" "" "" "0" "" "" "g.63059558T>C" "" "VUS" "" "0000095723" "0" "50" "15" "63354427" "63354427" "subst" "0" "00006" "TPM1_000045" "g.63354427A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "A653G (D254G)" "" "Germline" "" "" "0" "" "" "g.63062228A>G" "" "VUS" "" "0000095814" "1" "50" "15" "63354818" "63354818" "subst" "0" "00006" "TPM1_000043" "g.63354818T>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001018005:c.T638G (L249W)" "variant description corrected to match protein change (L249W)" "Germline" "" "" "0" "" "" "g.63062619T>G" "" "VUS" "" "0000096977" "0" "50" "15" "63351757" "63351757" "subst" "0.00025182" "01602" "TPM1_000041" "g.63351757T>C" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs377061868" "0" "" "" "g.63059558T>C" "" "VUS" "" "0000175264" "1" "90" "15" "63354418" "63354418" "subst" "4.06497E-6" "01401" "TPM1_000014" "g.63354418C>T" "" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.63062219C>T" "" "pathogenic" "" "0000218387" "0" "50" "15" "63335133" "63335133" "subst" "9.40716E-6" "02244" "TPM1_000046" "g.63335133G>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "0" "" "" "g.63042934G>C" "" "VUS" "" "0000247305" "0" "10" "15" "63353451" "63353451" "subst" "0.00093801" "02330" "TPM1_000064" "g.63353451A>G" "" "" "" "TPM1(NM_000366.5):c.618A>G (p.A206=), TPM1(NM_000366.6):c.618A>G (p.(Ala206=)), TPM1(NM_001018006.2):c.618A>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061252A>G" "" "benign" "" "0000247309" "0" "50" "15" "63356340" "63356340" "subst" "0" "02330" "TPM1_000029" "g.63356340A>G" "" "" "" "TPM1(NM_000366.6):c.850A>G (p.M284V), TPM1(NM_001018005.1):c.850A>G (p.I284V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064141A>G" "" "VUS" "" "0000247314" "0" "10" "15" "63363291" "63363291" "subst" "0.000865947" "02330" "TPM1_000116" "g.63363291A>G" "" "" "" "TPM1(NM_001018004.2):c.775A>G (p.K259E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63071092A>G" "" "benign" "" "0000247329" "0" "10" "15" "63336288" "63336288" "subst" "6.90361E-5" "02330" "TPM1_000092" "g.63336288A>G" "" "" "" "TPM1(NM_001018004.2):c.177A>G (p.K59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044089A>G" "" "benign" "" "0000247330" "0" "10" "15" "63353966" "63353966" "subst" "0" "02330" "TPM1_000035" "g.63353966A>G" "" "" "" "TPM1(NM_001018004.2):c.618A>G (p.S206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061767A>G" "" "benign" "" "0000247352" "0" "50" "15" "63353933" "63353933" "subst" "0" "02330" "TPM1_000068" "g.63353933A>C" "" "" "" "TPM1(NM_001018004.2):c.585A>C (p.E195D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061734A>C" "" "VUS" "" "0000247355" "0" "50" "15" "63354451" "63354451" "subst" "0" "02330" "TPM1_000075" "g.63354451A>G" "" "" "" "TPM1(NM_001018004.2):c.677A>G (p.K226R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63062252A>G" "" "VUS" "" "0000247356" "0" "50" "15" "63353455" "63353455" "subst" "4.06068E-6" "02330" "TPM1_000065" "g.63353455A>G" "" "" "" "TPM1(NM_001018006.2):c.622A>G (p.M208V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061256A>G" "" "VUS" "" "0000248080" "0" "30" "15" "63353451" "63353451" "subst" "0.00093801" "02325" "TPM1_000064" "g.63353451A>G" "" "" "" "TPM1(NM_000366.5):c.618A>G (p.A206=), TPM1(NM_000366.6):c.618A>G (p.(Ala206=)), TPM1(NM_001018006.2):c.618A>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061252A>G" "" "likely benign" "" "0000249201" "0" "10" "15" "63340647" "63340647" "subst" "0.999346" "02325" "TPM1_000055" "g.63340647A>G" "" "" "" "TPM1(NM_001018008.2):c.-128A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63048448A>G" "" "benign" "" "0000249722" "0" "50" "15" "63354836" "63354836" "subst" "0" "02325" "TPM1_000036" "g.63354836A>T" "" "" "" "TPM1(NM_001018004.2):c.764A>T (p.D255V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63062637A>T" "" "VUS" "" "0000250771" "0" "30" "15" "63353451" "63353451" "subst" "0.00093801" "02326" "TPM1_000064" "g.63353451A>G" "" "" "" "TPM1(NM_000366.5):c.618A>G (p.A206=), TPM1(NM_000366.6):c.618A>G (p.(Ala206=)), TPM1(NM_001018006.2):c.618A>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061252A>G" "" "likely benign" "" "0000251753" "0" "30" "15" "63363291" "63363291" "subst" "0.000865947" "02326" "TPM1_000116" "g.63363291A>G" "" "" "" "TPM1(NM_001018004.2):c.775A>G (p.K259E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63071092A>G" "" "likely benign" "" "0000252419" "0" "70" "15" "63353955" "63353955" "subst" "0" "02326" "TPM1_000071" "g.63353955A>G" "" "" "" "TPM1(NM_001018004.2):c.607A>G (p.N203D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061756A>G" "" "likely pathogenic" "" "0000252643" "0" "50" "15" "63362141" "63362141" "subst" "5.68648E-5" "02326" "TPM1_000115" "g.63362141A>C" "" "" "" "TPM1(NM_001018008.2):c.737A>C (p.*246Sext*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63069942A>C" "" "VUS" "" "0000252660" "0" "50" "15" "63353983" "63353983" "subst" "4.06309E-6" "02326" "TPM1_000072" "g.63353983A>T" "" "" "" "TPM1(NM_001018004.2):c.635A>T (p.E212V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061784A>T" "" "VUS" "" "0000253990" "0" "30" "15" "63353451" "63353451" "subst" "0.00093801" "01943" "TPM1_000064" "g.63353451A>G" "" "" "" "TPM1(NM_000366.5):c.618A>G (p.A206=), TPM1(NM_000366.6):c.618A>G (p.(Ala206=)), TPM1(NM_001018006.2):c.618A>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061252A>G" "" "likely benign" "" "0000255825" "0" "50" "15" "63356340" "63356340" "subst" "0" "01943" "TPM1_000029" "g.63356340A>G" "" "" "" "TPM1(NM_000366.6):c.850A>G (p.M284V), TPM1(NM_001018005.1):c.850A>G (p.I284V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064141A>G" "" "VUS" "" "0000256570" "0" "50" "15" "63336346" "63336346" "subst" "0" "01943" "TPM1_000095" "g.63336346A>G" "" "" "" "TPM1(NM_001018005.1):c.235A>G (p.T79A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044147A>G" "" "VUS" "" "0000309386" "0" "10" "15" "63335016" "63335016" "subst" "8.29696E-6" "02330" "TPM1_000047" "g.63335016C>T" "" "" "" "TPM1(NM_001018004.2):c.-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63042817C>T" "" "benign" "" "0000309387" "0" "50" "15" "63356347" "63356347" "subst" "0.000167879" "02330" "TPM1_000040" "g.63356347C>T" "" "" "" "TPM1(NM_000366.6):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064148C>T" "" "VUS" "" "0000309388" "0" "10" "15" "63358078" "63358078" "subst" "0" "02330" "TPM1_000106" "g.63358078T>C" "" "" "" "TPM1(NM_000366.6):c.*45-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63065879T>C" "" "benign" "" "0000309389" "0" "10" "15" "63335156" "63335156" "subst" "9.93476E-5" "02330" "TPM1_000050" "g.63335156C>T" "" "" "" "TPM1(NM_000366.6):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63042957C>T" "" "benign" "" "0000309390" "0" "10" "15" "63336037" "63336037" "subst" "0" "02330" "TPM1_000088" "g.63336037G>T" "" "" "" "TPM1(NM_001018004.2):c.115-189G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043838G>T" "" "benign" "" "0000309391" "0" "10" "15" "63335907" "63335907" "subst" "0.0025136" "02330" "TPM1_000051" "g.63335907C>G" "" "" "" "TPM1(NM_001018007.1):c.117C>G (p.(=)), TPM1(NM_001018007.2):c.117C>G (p.L39=), TPM1(NM_001018020.1):c.117C>G (p.L39=), TPM1(NM_001365778.1):c.117C>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043708C>G" "" "benign" "" "0000309393" "0" "10" "15" "63335949" "63335949" "subst" "7.10975E-6" "02330" "TPM1_000053" "g.63335949G>A" "" "" "" "TPM1(NM_001018007.2):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043750G>A" "" "benign" "" "0000309394" "0" "10" "15" "63335964" "63335964" "subst" "0.00020572" "02330" "TPM1_000054" "g.63335964C>T" "" "" "" "TPM1(NM_001018007.2):c.174C>T (p.D58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043765C>T" "" "benign" "" "0000309396" "0" "10" "15" "63336291" "63336291" "subst" "0.00064165" "02330" "TPM1_000093" "g.63336291C>T" "" "" "" "TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=), TPM1(NM_001365776.1):c.180C>T (p.Y60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044092C>T" "" "benign" "" "0000309397" "0" "10" "15" "63335991" "63335991" "subst" "9.23256E-5" "02330" "TPM1_000087" "g.63335991G>A" "" "" "" "TPM1(NM_001018007.2):c.201G>A (p.A67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043792G>A" "" "benign" "" "0000309398" "0" "10" "15" "63349165" "63349165" "subst" "0" "02330" "TPM1_000102" "g.63349165C>G" "" "" "" "TPM1(NM_001018004.2):c.241-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63056966C>G" "" "benign" "" "0000309399" "0" "10" "15" "63349176" "63349176" "subst" "4.06131E-6" "02330" "TPM1_000033" "g.63349176C>T" "" "" "" "TPM1(NM_001018004.2):c.241-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63056977C>T" "" "benign" "" "0000309400" "0" "90" "15" "63349193" "63349193" "subst" "4.06118E-6" "02330" "TPM1_000034" "g.63349193G>A" "" "" "" "TPM1(NM_001018004.2):c.250G>A (p.D84N), TPM1(NM_001018005.1):c.250G>A (p.D84N), TPM1(NM_001365776.1):c.250G>A (p.D84N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63056994G>A" "" "pathogenic" "" "0000309401" "0" "10" "15" "63351759" "63351759" "subst" "0.00163684" "02330" "TPM1_000042" "g.63351759C>T" "" "" "" "TPM1(NM_001018004.2):c.375-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059560C>T" "" "benign" "" "0000309402" "0" "10" "15" "63351757" "63351757" "subst" "0.00025182" "02330" "TPM1_000041" "g.63351757T>C" "" "" "" "TPM1(NM_001018004.2):c.375-5T>C, TPM1(NM_001018005.1):c.375-5T>C, TPM1(NM_001330351.2):c.267-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059558T>C" "" "benign" "" "0000309403" "0" "10" "15" "63351840" "63351840" "subst" "0.670169" "02330" "TPM1_000019" "g.63351840C>A" "" "" "" "TPM1(NM_000366.6):c.453C>A (p.A151=), TPM1(NM_001018004.2):c.453C>A (p.A151=), TPM1(NM_001018005.1):c.453C>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059641C>A" "" "benign" "" "0000309404" "0" "10" "15" "63351873" "63351873" "subst" "0.0547871" "02330" "TPM1_000020" "g.63351873T>C" "" "" "" "TPM1(NM_001018004.2):c.486T>C (p.Y162=), TPM1(NM_001018005.1):c.486T>C (p.Y162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059674T>C" "" "benign" "" "0000309405" "0" "10" "15" "63353048" "63353048" "subst" "0" "02330" "TPM1_000061" "g.63353048G>A" "" "" "" "TPM1(NM_001018004.2):c.493-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63060849G>A" "" "benign" "" "0000309406" "0" "30" "15" "63353900" "63353900" "subst" "8.12532E-6" "02330" "TPM1_000066" "g.63353900C>G" "" "" "" "TPM1(NM_001018004.2):c.564-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061701C>G" "" "likely benign" "" "0000309407" "0" "70" "15" "63335092" "63335092" "subst" "4.14473E-6" "02330" "TPM1_000048" "g.63335092G>A" "" "" "" "TPM1(NM_001018004.2):c.64G>A (p.A22T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63042893G>A" "" "likely pathogenic" "" "0000309408" "0" "70" "15" "63354797" "63354797" "subst" "4.06128E-6" "02330" "TPM1_000077" "g.63354797C>T" "" "" "" "TPM1(NM_001018004.2):c.725C>T (p.A242V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63062598C>T" "" "likely pathogenic" "" "0000309409" "0" "50" "15" "63356271" "63356271" "subst" "0" "02330" "TPM1_000079" "g.63356271T>C" "" "" "" "TPM1(NM_000366.6):c.781T>C (p.Y261H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064072T>C" "" "VUS" "" "0000309410" "0" "90" "15" "63356332" "63356332" "subst" "4.07166E-6" "02330" "TPM1_000016" "g.63356332T>C" "" "" "" "TPM1(NM_000366.6):c.842T>C (p.M281T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064133T>C" "" "pathogenic" "" "0000309411" "0" "50" "15" "63335125" "63335125" "subst" "0" "02330" "TPM1_000049" "g.63335125G>A" "" "" "" "TPM1(NM_001018004.2):c.97G>A (p.E33K), TPM1(NM_001018005.2):c.97G>A (p.E33K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63042926G>A" "" "VUS" "" "0000311984" "0" "10" "15" "63340705" "63340705" "subst" "0.188653" "02325" "TPM1_000097" "g.63340705C>T" "" "" "" "TPM1(NM_001018008.2):c.-70C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63048506C>T" "" "benign" "" "0000311985" "0" "50" "15" "63356346" "63356346" "dup" "0" "02325" "TPM1_000039" "g.63356346dup" "" "" "" "TPM1(NM_000366.6):c.*2delCinsAC, TPM1(NM_000366.6):c.856dupA (p.*285=), TPM1(NM_001018005.1):c.851+5dupA, TPM1(NM_001365781.2):c.748dupA (p.*249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064147dup" "" "VUS" "" "0000311986" "0" "30" "15" "63340885" "63340885" "subst" "6.77956E-5" "02325" "TPM1_000100" "g.63340885C>T" "" "" "" "TPM1(NM_001018008.2):c.111C>T (p.H37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63048686C>T" "" "likely benign" "" "0000311987" "0" "30" "15" "63335156" "63335156" "subst" "9.93476E-5" "02325" "TPM1_000050" "g.63335156C>T" "" "" "" "TPM1(NM_000366.6):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63042957C>T" "" "likely benign" "" "0000311988" "0" "30" "15" "63336291" "63336291" "subst" "0.00064165" "02325" "TPM1_000093" "g.63336291C>T" "" "" "" "TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=), TPM1(NM_001365776.1):c.180C>T (p.Y60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044092C>T" "" "likely benign" "" "0000311989" "0" "90" "15" "63336295" "63336295" "subst" "0" "02325" "TPM1_000004" "g.63336295G>C" "" "" "" "TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001365776.1):c.184G>C (p.E62Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044096G>C" "" "pathogenic" "" "0000311990" "0" "30" "15" "63349176" "63349176" "subst" "4.06131E-6" "02325" "TPM1_000033" "g.63349176C>T" "" "" "" "TPM1(NM_001018004.2):c.241-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63056977C>T" "" "likely benign" "" "0000311991" "0" "30" "15" "63340816" "63340816" "subst" "1.56671E-5" "02325" "TPM1_000098" "g.63340816C>G" "" "" "" "TPM1(NM_001018008.2):c.42C>G (p.I14M), TPM1(NM_001330351.1):c.42C>G (p.I14M), TPM1(NM_001365781.2):c.42C>G (p.I14M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63048617C>G" "" "likely benign" "" "0000311992" "0" "10" "15" "63351840" "63351840" "subst" "0.670169" "02325" "TPM1_000019" "g.63351840C>A" "" "" "" "TPM1(NM_000366.6):c.453C>A (p.A151=), TPM1(NM_001018004.2):c.453C>A (p.A151=), TPM1(NM_001018005.1):c.453C>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059641C>A" "" "benign" "" "0000311993" "0" "90" "15" "63351862" "63351862" "subst" "0" "02325" "TPM1_000058" "g.63351862G>A" "" "" "" "TPM1(NM_001018004.2):c.475G>A (p.D159N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059663G>A" "" "pathogenic" "" "0000311994" "0" "30" "15" "63353073" "63353073" "subst" "4.06124E-6" "02325" "TPM1_000062" "g.63353073C>T" "" "" "" "TPM1(NM_001018004.2):c.498C>T (p.A166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63060874C>T" "" "likely benign" "" "0000311995" "0" "30" "15" "63353901" "63353901" "subst" "0.000475343" "02325" "TPM1_000067" "g.63353901G>A" "" "" "" "TPM1(NM_001018004.2):c.564-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061702G>A" "" "likely benign" "" "0000311996" "0" "90" "15" "63353950" "63353950" "subst" "0" "02325" "TPM1_000070" "g.63353950C>T" "" "" "" "TPM1(NM_001018004.2):c.602C>T (p.T201M), TPM1(NM_001365776.1):c.602C>T (p.T201M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061751C>T" "" "pathogenic" "" "0000311997" "0" "50" "15" "63354772" "63354772" "subst" "0" "02325" "TPM1_000076" "g.63354772C>T" "" "" "" "TPM1(NM_001018004.2):c.703-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63062573C>T" "" "VUS" "" "0000311998" "0" "70" "15" "63354797" "63354797" "subst" "4.06128E-6" "02325" "TPM1_000077" "g.63354797C>T" "" "" "" "TPM1(NM_001018004.2):c.725C>T (p.A242V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63062598C>T" "" "likely pathogenic" "" "0000311999" "0" "30" "15" "63356319" "63356319" "subst" "2.03369E-5" "02325" "TPM1_000080" "g.63356319G>A" "" "" "" "TPM1(NM_000366.6):c.829G>A (p.A277T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064120G>A" "" "likely benign" "" "0000312000" "0" "50" "15" "63340863" "63340863" "subst" "0" "02325" "TPM1_000099" "g.63340863C>T" "" "" "" "TPM1(NM_001301289.2):c.89C>T (p.T30I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63048664C>T" "" "VUS" "" "0000314786" "0" "30" "15" "63358045" "63358045" "subst" "0" "02326" "TPM1_000105" "g.63358045T>C" "" "" "" "TPM1(NM_000366.6):c.*45-50T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63065846T>C" "" "likely benign" "" "0000314787" "0" "30" "15" "63358045" "63358046" "del" "0" "02326" "TPM1_000104" "g.63358045_63358046del" "" "" "" "TPM1(NM_000366.6):c.*45-50_*45-49delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63065846_63065847del" "" "likely benign" "" "0000314788" "0" "30" "15" "63335156" "63335156" "subst" "9.93476E-5" "02326" "TPM1_000050" "g.63335156C>T" "" "" "" "TPM1(NM_000366.6):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63042957C>T" "" "likely benign" "" "0000314789" "0" "30" "15" "63340895" "63340895" "subst" "0" "02326" "TPM1_000101" "g.63340895C>A" "" "" "" "TPM1(NM_001018008.2):c.121C>A (p.L41M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63048696C>A" "" "likely benign" "" "0000314790" "0" "50" "15" "63336280" "63336280" "subst" "0" "02326" "TPM1_000091" "g.63336280C>G" "" "" "" "TPM1(NM_001018004.2):c.169C>G (p.L57V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044081C>G" "" "VUS" "" "0000314791" "0" "10" "15" "63351759" "63351759" "subst" "0.00163684" "02326" "TPM1_000042" "g.63351759C>T" "" "" "" "TPM1(NM_001018004.2):c.375-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059560C>T" "" "benign" "" "0000314792" "0" "10" "15" "63351840" "63351840" "subst" "0.670169" "02326" "TPM1_000019" "g.63351840C>A" "" "" "" "TPM1(NM_000366.6):c.453C>A (p.A151=), TPM1(NM_001018004.2):c.453C>A (p.A151=), TPM1(NM_001018005.1):c.453C>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059641C>A" "" "benign" "" "0000314793" "0" "90" "15" "63351866" "63351866" "subst" "0" "02326" "TPM1_000030" "g.63351866G>A" "" "" "" "TPM1(NM_000366.6):c.479G>A (p.R160H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059667G>A" "" "pathogenic" "" "0000314794" "0" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "02326" "TPM1_000009" "g.63353098G>A" "" "" "" "TPM1(NM_000366.6):c.523G>A (p.D175N), TPM1(NM_001018005.1):c.523G>A (p.D175N), TPM1(NM_001365776.1):c.523G>A (p.D175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000314795" "0" "30" "15" "63353939" "63353939" "subst" "0" "02326" "TPM1_000069" "g.63353939G>A" "" "" "" "TPM1(NM_001018004.2):c.591G>A (p.L197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061740G>A" "" "likely benign" "" "0000314796" "0" "10" "15" "63354009" "63354009" "subst" "0.0113467" "02326" "TPM1_000074" "g.63354009G>C" "" "" "" "TPM1(NM_001018004.2):c.639+22G>C, TPM1(NM_001018005.1):c.639+22G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061810G>C" "" "benign" "" "0000314797" "0" "50" "15" "63356322" "63356322" "subst" "4.0665E-6" "02326" "TPM1_000081" "g.63356322C>G" "" "" "" "TPM1(NM_000366.6):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064123C>G" "" "VUS" "" "0000314798" "0" "30" "15" "63356335" "63356335" "subst" "0.000252573" "02326" "TPM1_000083" "g.63356335C>G" "" "" "" "TPM1(NM_000366.5):c.845C>G (p.T282S), TPM1(NM_000366.6):c.845C>G (p.T282S), TPM1(NM_001365781.2):c.737C>G (p.T246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064136C>G" "" "likely benign" "" "0000316938" "0" "10" "15" "63335156" "63335156" "subst" "9.93476E-5" "01943" "TPM1_000050" "g.63335156C>T" "" "" "" "TPM1(NM_000366.6):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63042957C>T" "" "benign" "" "0000316939" "0" "10" "15" "63336194" "63336194" "del" "0" "01943" "TPM1_000089" "g.63336194del" "" "" "" "TPM1(NM_001018005.1):c.115-32delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043995del" "" "benign" "" "0000316940" "0" "10" "15" "63335907" "63335907" "subst" "0.0025136" "01943" "TPM1_000051" "g.63335907C>G" "" "" "" "TPM1(NM_001018007.1):c.117C>G (p.(=)), TPM1(NM_001018007.2):c.117C>G (p.L39=), TPM1(NM_001018020.1):c.117C>G (p.L39=), TPM1(NM_001365778.1):c.117C>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043708C>G" "" "benign" "" "0000316941" "0" "30" "15" "63335910" "63335910" "subst" "0.000204927" "01943" "TPM1_000052" "g.63335910G>A" "" "" "" "TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043711G>A" "" "likely benign" "" "0000316942" "0" "30" "15" "63336291" "63336291" "subst" "0.00064165" "01943" "TPM1_000093" "g.63336291C>T" "" "" "" "TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=), TPM1(NM_001365776.1):c.180C>T (p.Y60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044092C>T" "" "likely benign" "" "0000316943" "0" "90" "15" "63336295" "63336295" "subst" "0" "01943" "TPM1_000004" "g.63336295G>C" "" "" "" "TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001365776.1):c.184G>C (p.E62Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044096G>C" "" "pathogenic" "" "0000316944" "0" "10" "15" "63336372" "63336372" "subst" "0.000207272" "01943" "TPM1_000096" "g.63336372C>T" "" "" "" "TPM1(NM_001018005.1):c.240+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63044173C>T" "" "benign" "" "0000316945" "0" "70" "15" "63349193" "63349193" "subst" "4.06118E-6" "01943" "TPM1_000034" "g.63349193G>A" "" "" "" "TPM1(NM_001018004.2):c.250G>A (p.D84N), TPM1(NM_001018005.1):c.250G>A (p.D84N), TPM1(NM_001365776.1):c.250G>A (p.D84N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63056994G>A" "" "likely pathogenic" "" "0000316946" "0" "10" "15" "63349382" "63349382" "del" "0" "01943" "TPM1_000056" "g.63349382del" "" "" "" "TPM1(NM_001018005.1):c.374+65delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63057183del" "" "benign" "" "0000316947" "0" "30" "15" "63351757" "63351757" "subst" "0.00025182" "01943" "TPM1_000041" "g.63351757T>C" "" "" "" "TPM1(NM_001018004.2):c.375-5T>C, TPM1(NM_001018005.1):c.375-5T>C, TPM1(NM_001330351.2):c.267-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059558T>C" "" "likely benign" "" "0000316948" "0" "10" "15" "63351840" "63351840" "subst" "0.670169" "01943" "TPM1_000019" "g.63351840C>A" "" "" "" "TPM1(NM_000366.6):c.453C>A (p.A151=), TPM1(NM_001018004.2):c.453C>A (p.A151=), TPM1(NM_001018005.1):c.453C>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059641C>A" "" "benign" "" "0000316949" "0" "10" "15" "63351873" "63351873" "subst" "0.0547871" "01943" "TPM1_000020" "g.63351873T>C" "" "" "" "TPM1(NM_001018004.2):c.486T>C (p.Y162=), TPM1(NM_001018005.1):c.486T>C (p.Y162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63059674T>C" "" "benign" "" "0000316950" "0" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "01943" "TPM1_000009" "g.63353098G>A" "" "" "" "TPM1(NM_000366.6):c.523G>A (p.D175N), TPM1(NM_001018005.1):c.523G>A (p.D175N), TPM1(NM_001365776.1):c.523G>A (p.D175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000316951" "0" "10" "15" "63354008" "63354008" "subst" "0.00030158" "01943" "TPM1_000073" "g.63354008G>C" "" "" "" "TPM1(NM_001018005.1):c.639+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061809G>C" "" "benign" "" "0000316952" "0" "10" "15" "63354009" "63354009" "subst" "0.0113467" "01943" "TPM1_000074" "g.63354009G>C" "" "" "" "TPM1(NM_001018004.2):c.639+22G>C, TPM1(NM_001018005.1):c.639+22G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061810G>C" "" "benign" "" "0000316953" "0" "30" "15" "63356264" "63356264" "subst" "1.62693E-5" "01943" "TPM1_000078" "g.63356264C>T" "" "" "" "TPM1(NM_001018005.1):c.774C>T (p.D258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064065C>T" "" "likely benign" "" "0000316954" "0" "50" "15" "63356346" "63356346" "dup" "0" "01943" "TPM1_000039" "g.63356346dup" "" "" "" "TPM1(NM_000366.6):c.*2delCinsAC, TPM1(NM_000366.6):c.856dupA (p.*285=), TPM1(NM_001018005.1):c.851+5dupA, TPM1(NM_001365781.2):c.748dupA (p.*249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064147dup" "" "VUS" "" "0000324148" "0" "50" "15" "63335907" "63335907" "subst" "0.0025136" "01804" "TPM1_000051" "g.63335907C>G" "" "" "" "TPM1(NM_001018007.1):c.117C>G (p.(=)), TPM1(NM_001018007.2):c.117C>G (p.L39=), TPM1(NM_001018020.1):c.117C>G (p.L39=), TPM1(NM_001365778.1):c.117C>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63043708C>G" "" "VUS" "" "0000324149" "0" "50" "15" "63362101" "63362101" "subst" "8.1244E-6" "01804" "TPM1_000166" "g.63362101C>T" "" "" "" "TPM1(NM_000366.5):c.*4051C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63069902C>T" "" "VUS" "" "0000356897" "0" "70" "15" "63349194" "63349194" "subst" "0" "01807" "TPM1_000084" "g.63349194A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.63056995A>C" "" "likely pathogenic" "" "0000445532" "1" "90" "15" "63353090" "63353090" "subst" "0" "00006" "TPM1_000008" "g.63353090T>C" "" "{PMID:Van Driest 2003:12860912}, {PMID:Van Driest:15519027}" "" "" "neutral charge substitution" "Germline" "" "" "0" "" "" "g.63060891T>C" "" "pathogenic" "" "0000446786" "1" "90" "15" "63336295" "63336295" "subst" "0" "00006" "TPM1_000004" "g.63336295G>C" "" "{PMID:Jongbloed:12651045}" "" "" "net charge subsitution 1 to 0; occurs at the fposition of the TPM1 heptad repeat" "Germline" "" "" "0" "" "" "g.63044096G>C" "" "pathogenic" "" "0000446787" "1" "90" "15" "63336299" "63336299" "subst" "0" "00006" "TPM1_000005" "g.63336299C>T" "" "{PMID:NakajimaTaniguchi:08523464}, {PMID:YamauchiTakihara:08774330}" "" "" "neutral charge substitution" "Germline" "" "" "0" "" "" "g.63044100C>T" "" "pathogenic" "" "0000446788" "1" "90" "15" "63336320" "63336320" "subst" "0" "00006" "TPM1_000006" "g.63336320A>C" "" "{PMID:YamauchiTakihara:08774330}" "" "" "net charge substitution +1 to 0" "Germline" "" "" "0" "" "" "g.63044121A>C" "" "pathogenic" "" "0000446789" "1" "90" "15" "63349227" "63349227" "subst" "0" "00006" "TPM1_000007" "g.63349227T>C" "" "{PMID:Karibe:11136687}, {OMIM191010:0003}" "" "" "neutral charge substitution; increased calcium affinity" "Germline" "" "" "0" "" "" "g.63057028T>C" "" "pathogenic" "" "0000446790" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Thierfelder 1994:08205619}, {OMIM191010:0002}" "" "579G>A" "mapped by linkage analysis; not in >200 normal chromosomes" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic (dominant)" "" "0000446791" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Bottinelli:09440709}" "" "" "net charge substitution 1 to 0; may affect the Ca2+ dependent binding to troponin T; in vitro assay showed increased Ca2+ sensitivity" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446792" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:NakajimaTaniguchi:08523464}" "" "" "net charge substitution 1 to 0; may affect the Ca2+ dependent binding to troponin T; in vitro assay showed increased Ca2+ sensitivity" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446793" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Watkins:07729014}, {OMIM191010:0002}, {PMID:Watkins:07898523}" "" "" "net charge substitution 1 to 0; may affect the Ca2+ dependent binding to troponin T; in vitro assay showed increased Ca2+ sensitivity" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446794" "1" "90" "15" "63353114" "63353114" "subst" "0" "00006" "TPM1_000010" "g.63353114A>G" "" "{PMID:Thierfelder 1994:08205619}, {OMIM191010:0001}" "MnlI" "595A>G" "mapped by linkage analysis; not in >200 normal chromosomes" "Germline" "" "rs28934269" "0" "" "" "g.63060915A>G" "" "pathogenic (dominant)" "" "0000446795" "1" "90" "15" "63353114" "63353114" "subst" "0" "00006" "TPM1_000011" "g.63353114A>T" "" "{PMID:RegitzZagrosek:11044437}" "" "" "net charge substitution 1 to 0; Ca2+ dependent troponin T binding domain" "Germline" "" "" "0" "" "" "g.63060915A>T" "" "pathogenic" "" "0000446796" "1" "90" "15" "63353129" "63353129" "subst" "0" "00006" "TPM1_000012" "g.63353129T>G" "" "{PMID:Van Driest 2002:12423715}, {PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "" "" "0" "" "" "g.63060930T>G" "" "pathogenic" "" "0000446797" "1" "90" "15" "63356332" "63356332" "subst" "4.07166E-6" "00006" "TPM1_000016" "g.63356332T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.63064133T>C" "" "pathogenic" "" "0000446798" "1" "90" "15" "63336271" "63336271" "subst" "0" "00006" "TPM1_000002" "g.63336271G>A" "" "{PMID:Olson:11273725}, {OMIM191010:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.63044072G>A" "" "pathogenic" "" "0000446799" "1" "90" "15" "63353922" "63353922" "subst" "0" "00006" "TPM1_000013" "g.63353922G>A" "" "{PMID:Morita 2002:12858563}" "" "" "" "Germline" "" "" "0" "" "" "g.63061723G>A" "" "pathogenic" "" "0000446800" "1" "90" "15" "63336229" "63336229" "subst" "0" "00006" "TPM1_000001" "g.63336229G>A" "" "{PMID:Olson:11273725}, {OMIM191010:0005}" "" "" "" "Germline" "" "" "0" "" "" "g.63044030G>A" "" "pathogenic" "" "0000446801" "1" "90" "15" "63336283" "63336283" "subst" "0" "00006" "TPM1_000003" "g.63336283G>C" "" "{PMID:Frisso 2009:19659763}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.63044084G>C" "" "pathogenic" "" "0000446802" "1" "90" "15" "63336320" "63336320" "subst" "0" "00006" "TPM1_000006" "g.63336320A>C" "" "{PMID:Heller:12900417}" "" "" "" "Germline" "" "" "0" "" "" "g.63044121A>C" "" "pathogenic" "" "0000446803" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:YamauchiTakihara:08774330}" "" "" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446804" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Coviello:09060904}" "" "" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446805" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Jaaskelainen:09822100}" "" "" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446806" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Waldmuller:11968089}" "" "" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446807" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Hedman:14734051}" "" "" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446808" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Sipola:16014439}" "" "" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446809" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Poutanen:16504640}" "" "" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446810" "1" "90" "15" "63353114" "63353114" "subst" "0" "00006" "TPM1_000010" "g.63353114A>G" "" "{PMID:Prabhakar:11603924}" "" "" "" "Germline" "" "rs28934269" "0" "" "" "g.63060915A>G" "" "pathogenic" "" "0000446811" "11" "90" "15" "63353129" "63353129" "subst" "0" "00006" "TPM1_000012" "g.63353129T>G" "" "{PMID:Earing 2003:12778034}" "" "" "" "Germline" "" "" "0" "" "" "g.63060930T>G" "" "pathogenic" "" "0000446812" "1" "10" "15" "63353124" "63353124" "subst" "0" "00006" "TPM1_000018" "g.63353124T>G" "1/200" "{PMID:Thierfelder 1994:08205619}" "" "605T>G" "" "Germline" "" "" "0" "" "" "g.63060925T>G" "" "benign" "" "0000446813" "0" "10" "15" "63351840" "63351840" "subst" "0.670169" "00568" "TPM1_000019" "g.63351840C>A" "" "{PMID:Sambuughin 2010:21109227}" "" "664C>A (Ala151Ala)" "" "Germline" "" "rs1071646" "0" "" "" "g.63059641C>A" "" "benign" "" "0000446814" "11" "90" "15" "63349172" "63349173" "delins" "0" "00006" "TPM1_000021" "g.63349172_63349173delinsTG" "" "{PMID:Hoedemaekers 2010:20530761}" "" "" "" "Germline" "" "" "0" "" "" "g.63056973_63056974delinsTG" "" "pathogenic" "" "0000446815" "1" "90" "15" "63356332" "63356332" "subst" "4.07166E-6" "00006" "TPM1_000016" "g.63356332T>C" "" "{PMID:Van Driest 2003:12860912}" "" "" "" "Germline" "" "" "0" "" "" "g.63064133T>C" "" "pathogenic" "" "0000446816" "1" "90" "15" "63354462" "63354462" "subst" "0" "00006" "TPM1_000015" "g.63354462G>A" "" "{PMID:Lakdawala 2010:20117437}" "" "" "not in >1000 control chromosomes" "Germline" "" "" "0" "" "" "g.63062263G>A" "" "pathogenic (dominant)" "" "0000446817" "1" "90" "15" "63354462" "63354462" "subst" "0" "00006" "TPM1_000015" "g.63354462G>A" "" "{PMID:Lakdawala 2010:20117437}" "" "" "not in >1000 control chromosomes" "Germline" "" "" "0" "" "" "g.63062263G>A" "" "pathogenic (dominant)" "" "0000446818" "1" "90" "15" "63349218" "63349218" "subst" "0" "00006" "TPM1_000022" "g.63349218T>C" "" "{PMID:Hershberger 2010:20215591}" "" "T17389C" "segregates (2)" "Germline" "" "" "0" "" "" "g.63057019T>C" "" "pathogenic" "" "0000446819" "1" "70" "15" "63335073" "63335073" "subst" "0" "00006" "TPM1_000023" "g.63335073G>T" "" "{PMID:Hershberger 2010:20215591}" "" "G3244T" "segregates (3)" "Germline" "" "" "0" "" "" "g.63042874G>T" "" "likely pathogenic" "" "0000446820" "1" "70" "15" "63335095" "63335095" "subst" "0" "00006" "TPM1_000024" "g.63335095G>C" "" "{PMID:Hershberger 2010:20215591}" "" "G3266C" "" "Germline" "" "" "0" "" "" "g.63042896G>C" "" "likely pathogenic" "" "0000446821" "1" "90" "15" "63340821" "63340821" "subst" "0" "00006" "TPM1_000025" "g.63340821G>T" "" "{PMID:Hershberger 2010:20215591}" "" "G8992T (Ser16Ile)" "" "Germline" "" "" "0" "" "" "g.63048622G>T" "" "pathogenic" "" "0000446822" "1" "70" "15" "63354787" "63354787" "subst" "0" "00006" "TPM1_000026" "g.63354787G>A" "" "{PMID:Hershberger 2010:20215591}" "" "G22958A" "" "Germline" "" "" "0" "" "" "g.63062588G>A" "" "likely pathogenic" "" "0000446823" "1" "70" "15" "63356320" "63356320" "subst" "0" "00006" "TPM1_000027" "g.63356320C>T" "" "{PMID:Hershberger 2010:20215591}" "" "C24491T" "" "Germline" "" "" "0" "" "" "g.63064121C>T" "" "likely pathogenic" "" "0000446824" "21" "90" "15" "63335137" "63335137" "subst" "0" "00006" "TPM1_000028" "g.63335137A>G" "" "{PMID:Chang 2011:20965760}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.63042938A>G" "" "pathogenic (dominant)" "" "0000446825" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Morita 2008:18403758}" "" "g.23261G>A" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446826" "1" "90" "15" "63354418" "63354418" "subst" "4.06497E-6" "00006" "TPM1_000014" "g.63354418C>T" "" "{PMID:Morita 2008:18403758}" "" "" "" "Germline" "" "" "0" "" "" "g.63062219C>T" "" "pathogenic" "" "0000446827" "1" "90" "15" "63356332" "63356332" "subst" "4.07166E-6" "00006" "TPM1_000016" "g.63356332T>C" "" "{PMID:Olivotto 2008:18533079}" "" "T>C" "" "Germline" "" "" "0" "" "" "g.63064133T>C" "" "pathogenic" "" "0000446828" "1" "90" "15" "63356340" "63356340" "subst" "0" "00006" "TPM1_000029" "g.63356340A>G" "" "{PMID:Olivotto 2008:18533079}" "" "A>G (Met284Val)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.63064141A>G" "" "pathogenic" "" "0000446829" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Andersen 2009:19035361}" "" "g.23261G>A" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446830" "1" "90" "15" "63351866" "63351866" "subst" "0" "00006" "TPM1_000030" "g.63351866G>A" "" "{PMID:Hoedemaekers 2010:20530761}" "" "" "de novo, in patient" "De novo" "" "" "0" "" "" "g.63059667G>A" "" "pathogenic" "" "0000446831" "1" "30" "15" "63351840" "63351840" "subst" "0.670169" "00006" "TPM1_000019" "g.63351840C>A" "67/155 cases" "{PMID:Fokstuen 2011:21239446}" "" "" "" "Germline" "" "rs1071646" "0" "" "" "g.63059641C>A" "" "likely benign" "" "0000446832" "1" "30" "15" "63351873" "63351873" "subst" "0.0547871" "00006" "TPM1_000020" "g.63351873T>C" "19/156 cases" "{PMID:Fokstuen 2011:21239446}" "" "" "" "Germline" "" "rs11558747" "0" "" "" "g.63059674T>C" "" "likely benign" "" "0000446833" "1" "90" "15" "63335089" "63335089" "subst" "0" "00006" "TPM1_000031" "g.63335089C>G" "1/122 cases" "{PMID:Fokstuen 2011:21239446}" "" "61G>C (Arg21His)" "reported variant description not possible; not in 192 control chromosomes" "Germline" "" "" "0" "" "" "g.63042890C>G" "" "pathogenic" "" "0000446834" "1" "90" "15" "63354814" "63354814" "subst" "0" "00006" "TPM1_000032" "g.63354814A>G" "" "{PMID:Probst 2011:21551322}" "" "933A>G" "" "Germline" "" "" "0" "" "" "g.63062615A>G" "" "pathogenic (dominant)" "" "0000446835" "1" "90" "15" "63353922" "63353922" "subst" "0" "00006" "TPM1_000013" "g.63353922G>A" "" "{PMID:Probst 2011:21551322}" "" "765G>A" "" "Germline" "" "" "0" "" "" "g.63061723G>A" "" "pathogenic" "" "0000446836" "1" "90" "15" "63349227" "63349227" "subst" "0" "00006" "TPM1_000007" "g.63349227T>C" "" "{PMID:Morita 2002:12858563}" "" "" "" "Germline" "" "" "0" "" "" "g.63057028T>C" "" "pathogenic" "" "0000446837" "1" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "" "{PMID:Watkins 1995:07898523}" "" "Asp175Asn" "" "Germline" "" "rs28934270" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000446838" "0" "50" "15" "63351790" "63351790" "subst" "0" "00006" "TPM1_000017" "g.63351790C>A" "" "" "" "" "" "Germline" "" "rs11558749" "0" "" "" "g.63059591C>A" "" "VUS" "" "0000555015" "0" "30" "15" "63334985" "63335025" "del" "0" "02327" "TPM1_000117" "g.63334985_63335025del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63042786_63042826del" "" "likely benign" "" "0000555016" "0" "30" "15" "63335022" "63335022" "subst" "5.77515E-5" "02327" "TPM1_000118" "g.63335022C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63042823C>A" "" "likely benign" "" "0000555017" "0" "30" "15" "63335055" "63335055" "subst" "0.000110571" "02327" "TPM1_000119" "g.63335055G>A" "" "" "" "TPM1(NM_001365776.1):c.27G>A (p.Q9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63042856G>A" "" "likely benign" "" "0000555018" "0" "50" "15" "63335110" "63335110" "subst" "0" "01943" "TPM1_000120" "g.63335110G>A" "" "" "" "TPM1(NM_001018004.1):c.82G>A (p.D28N), TPM1(NM_001018004.2):c.82G>A (p.D28N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63042911G>A" "" "VUS" "" "0000555019" "0" "30" "15" "63335156" "63335156" "subst" "9.93476E-5" "02327" "TPM1_000050" "g.63335156C>T" "" "" "" "TPM1(NM_000366.6):c.114+14C>T, TPM1(NM_001018004.2):c.114+14C>T, TPM1(NM_001018005.1):c.114+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63042957C>T" "" "likely benign" "" "0000555020" "0" "10" "15" "63335233" "63335233" "subst" "0" "02327" "TPM1_000121" "g.63335233G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043034G>A" "" "benign" "" "0000555021" "0" "10" "15" "63335910" "63335910" "subst" "0.000204927" "02330" "TPM1_000052" "g.63335910G>A" "" "" "" "TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043711G>A" "" "benign" "" "0000555022" "0" "30" "15" "63335910" "63335910" "subst" "0.000204927" "02327" "TPM1_000052" "g.63335910G>A" "" "" "" "TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043711G>A" "" "likely benign" "" "0000555023" "0" "30" "15" "63335910" "63335910" "subst" "0.000204927" "02326" "TPM1_000052" "g.63335910G>A" "" "" "" "TPM1(NM_001018007.2):c.120G>A (p.E40=), TPM1(NM_001018020.1):c.120G>A (p.E40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043711G>A" "" "likely benign" "" "0000555024" "0" "30" "15" "63335938" "63335938" "subst" "0" "02327" "TPM1_000122" "g.63335938C>G" "" "" "" "TPM1(NM_001365778.1):c.148C>G (p.L50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043739C>G" "" "likely benign" "" "0000555025" "0" "50" "15" "63335948" "63335948" "subst" "0" "01943" "TPM1_000123" "g.63335948C>T" "" "" "" "TPM1(NM_001018020.1):c.158C>T (p.S53L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043749C>T" "" "VUS" "" "0000555026" "0" "30" "15" "63335949" "63335949" "subst" "7.10975E-6" "02327" "TPM1_000053" "g.63335949G>A" "" "" "" "TPM1(NM_001018007.2):c.159G>A (p.S53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043750G>A" "" "likely benign" "" "0000555027" "0" "50" "15" "63335993" "63335993" "subst" "0" "02327" "TPM1_000124" "g.63335993A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043794A>T" "" "VUS" "" "0000555028" "0" "30" "15" "63336019" "63336019" "subst" "0" "02327" "TPM1_000125" "g.63336019G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043820G>A" "" "likely benign" "" "0000555029" "0" "10" "15" "63336042" "63336042" "subst" "0" "02330" "TPM1_000126" "g.63336042G>A" "" "" "" "TPM1(NM_001018004.2):c.115-184G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63043843G>A" "" "benign" "" "0000555030" "0" "50" "15" "63336212" "63336212" "subst" "0" "02326" "TPM1_000127" "g.63336212T>A" "" "" "" "TPM1(NM_001018004.2):c.115-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63044013T>A" "" "VUS" "" "0000555031" "0" "30" "15" "63336231" "63336231" "subst" "0" "02327" "TPM1_000128" "g.63336231A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63044032A>G" "" "likely benign" "" "0000555032" "0" "10" "15" "63336291" "63336291" "subst" "0.00064165" "02327" "TPM1_000093" "g.63336291C>T" "" "" "" "TPM1(NM_001018004.2):c.180C>T (p.Y60=), TPM1(NM_001018005.1):c.180C>T (p.Y60=), TPM1(NM_001365776.1):c.180C>T (p.Y60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63044092C>T" "" "benign" "" "0000555033" "0" "90" "15" "63336295" "63336295" "subst" "0" "02327" "TPM1_000004" "g.63336295G>C" "" "" "" "TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001365776.1):c.184G>C (p.E62Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63044096G>C" "" "pathogenic" "" "0000555034" "0" "10" "15" "63336372" "63336372" "subst" "0.000207272" "02327" "TPM1_000096" "g.63336372C>T" "" "" "" "TPM1(NM_001018005.1):c.240+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63044173C>T" "" "benign" "" "0000555036" "0" "50" "15" "63340775" "63340775" "subst" "0" "02326" "TPM1_000129" "g.63340775A>T" "" "" "" "TPM1(NM_001301289.2):c.1A>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048576A>T" "" "VUS" "" "0000555037" "0" "50" "15" "63340800" "63340800" "subst" "0" "02327" "TPM1_000130" "g.63340800C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048601C>T" "" "VUS" "" "0000555038" "0" "30" "15" "63340816" "63340816" "subst" "1.56671E-5" "02327" "TPM1_000098" "g.63340816C>G" "" "" "" "TPM1(NM_001018008.2):c.42C>G (p.I14M), TPM1(NM_001330351.1):c.42C>G (p.I14M), TPM1(NM_001365781.2):c.42C>G (p.I14M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048617C>G" "" "likely benign" "" "0000555039" "0" "30" "15" "63340849" "63340849" "subst" "0" "02327" "TPM1_000131" "g.63340849G>T" "" "" "" "TPM1(NM_001301289.2):c.75G>T (p.E25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048650G>T" "" "likely benign" "" "0000555040" "0" "50" "15" "63340849" "63340849" "subst" "0" "02326" "TPM1_000131" "g.63340849G>T" "" "" "" "TPM1(NM_001301289.2):c.75G>T (p.E25D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048650G>T" "" "VUS" "" "0000555041" "0" "50" "15" "63340885" "63340885" "subst" "6.77956E-5" "02327" "TPM1_000100" "g.63340885C>T" "" "" "" "TPM1(NM_001018008.2):c.111C>T (p.H37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048686C>T" "" "VUS" "" "0000555042" "0" "10" "15" "63340923" "63340923" "subst" "7.17955E-5" "02330" "TPM1_000132" "g.63340923T>A" "" "" "" "TPM1(NM_001018004.2):c.240+4572T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048724T>A" "" "benign" "" "0000555043" "0" "10" "15" "63349096" "63349096" "subst" "0" "02327" "TPM1_000133" "g.63349096G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63056897G>A" "" "benign" "" "0000555044" "0" "10" "15" "63349132" "63349132" "subst" "0" "02327" "TPM1_000134" "g.63349132T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63056933T>A" "" "benign" "" "0000555047" "0" "50" "15" "63349283" "63349283" "subst" "0" "02326" "TPM1_000135" "g.63349283G>C" "" "" "" "TPM1(NM_001018005.2):c.340G>C (p.E114Q), TPM1(NM_001330351.2):c.232G>C (p.E78Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63057084G>C" "" "VUS" "" "0000555048" "0" "10" "15" "63349382" "63349382" "del" "0" "02327" "TPM1_000056" "g.63349382del" "" "" "" "TPM1(NM_001018005.1):c.374+65delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63057183del" "" "benign" "" "0000555049" "0" "10" "15" "63351687" "63351687" "subst" "0" "02327" "TPM1_000136" "g.63351687A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63059488A>G" "" "benign" "" "0000555052" "0" "10" "15" "63351840" "63351840" "subst" "0.670169" "02327" "TPM1_000019" "g.63351840C>A" "" "" "" "TPM1(NM_000366.6):c.453C>A (p.A151=), TPM1(NM_001018004.2):c.453C>A (p.A151=), TPM1(NM_001018005.1):c.453C>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63059641C>A" "" "benign" "" "0000555053" "0" "10" "15" "63351873" "63351873" "subst" "0.0547871" "02327" "TPM1_000020" "g.63351873T>C" "" "" "" "TPM1(NM_001018004.2):c.486T>C (p.Y162=), TPM1(NM_001018005.1):c.486T>C (p.Y162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63059674T>C" "" "benign" "" "0000555054" "0" "10" "15" "63352092" "63352092" "subst" "0" "02327" "TPM1_000137" "g.63352092G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63059893G>A" "" "benign" "" "0000555055" "0" "10" "15" "63352140" "63352140" "subst" "0" "02327" "TPM1_000138" "g.63352140G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63059941G>T" "" "benign" "" "0000555057" "0" "30" "15" "63353124" "63353124" "subst" "2.0316E-5" "02327" "TPM1_000139" "g.63353124T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63060925T>C" "" "likely benign" "" "0000555059" "0" "50" "15" "63353137" "63353137" "subst" "0" "02330" "TPM1_000141" "g.63353137G>A" "" "" "" "TPM1(NM_001018004.2):c.562G>A (p.G188S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63060938G>A" "" "VUS" "" "0000555060" "0" "50" "15" "63353404" "63353404" "subst" "4.06095E-6" "02327" "TPM1_000142" "g.63353404C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63061205C>A" "" "VUS" "" "0000555062" "0" "30" "15" "63353939" "63353939" "subst" "0" "02327" "TPM1_000069" "g.63353939G>A" "" "" "" "TPM1(NM_001018004.2):c.591G>A (p.L197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63061740G>A" "" "likely benign" "" "0000555064" "0" "10" "15" "63354000" "63354000" "del" "0" "01943" "TPM1_000143" "g.63354000del" "" "" "" "TPM1(NM_001018005.1):c.639+13delG, TPM1(NM_001365776.1):c.639+13delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63061801del" "" "benign" "" "0000555065" "0" "30" "15" "63354008" "63354008" "subst" "0.00030158" "02327" "TPM1_000073" "g.63354008G>C" "" "" "" "TPM1(NM_001018005.1):c.639+21G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63061809G>C" "" "likely benign" "" "0000555067" "0" "30" "15" "63354431" "63354431" "subst" "0" "01943" "TPM1_000145" "g.63354431C>T" "" "" "" "TPM1(NM_001330351.1):c.549C>T (p.D183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63062232C>T" "" "likely benign" "" "0000555070" "0" "10" "15" "63354492" "63354492" "subst" "8.12612E-6" "02330" "TPM1_000147" "g.63354492T>C" "" "" "" "TPM1(NM_001018004.2):c.702+16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63062293T>C" "" "benign" "" "0000555071" "0" "10" "15" "63354610" "63354610" "subst" "0" "02327" "TPM1_000148" "g.63354610G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63062411G>A" "" "benign" "" "0000555072" "0" "10" "15" "63354798" "63354798" "subst" "0.000113708" "02330" "TPM1_000149" "g.63354798G>A" "" "" "" "TPM1(NM_001018004.2):c.726G>A (p.A242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63062599G>A" "" "benign" "" "0000555073" "0" "30" "15" "63354798" "63354798" "subst" "0.000113708" "02325" "TPM1_000149" "g.63354798G>A" "" "" "" "TPM1(NM_001018004.2):c.726G>A (p.A242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63062599G>A" "" "likely benign" "" "0000555075" "0" "10" "15" "63356181" "63356181" "subst" "0" "02327" "TPM1_000151" "g.63356181G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63063982G>A" "" "benign" "" "0000555076" "0" "30" "15" "63356264" "63356264" "subst" "1.62693E-5" "02327" "TPM1_000078" "g.63356264C>T" "" "" "" "TPM1(NM_001018005.1):c.774C>T (p.D258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064065C>T" "" "likely benign" "" "0000555078" "0" "30" "15" "63356318" "63356318" "subst" "8.13365E-6" "02327" "TPM1_000153" "g.63356318C>T" "" "" "" "TPM1(NM_001365781.2):c.720C>T (p.H240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064119C>T" "" "likely benign" "" "0000555079" "0" "50" "15" "63356319" "63356319" "subst" "2.03369E-5" "02327" "TPM1_000080" "g.63356319G>A" "" "" "" "TPM1(NM_000366.6):c.829G>A (p.A277T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064120G>A" "" "VUS" "" "0000555080" "0" "50" "15" "63356322" "63356322" "subst" "4.0665E-6" "02327" "TPM1_000081" "g.63356322C>G" "" "" "" "TPM1(NM_000366.6):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064123C>G" "" "VUS" "" "0000555081" "0" "30" "15" "63356330" "63356330" "subst" "2.03495E-5" "02327" "TPM1_000154" "g.63356330T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064131T>C" "" "likely benign" "" "0000555082" "0" "30" "15" "63356335" "63356335" "subst" "0.000252573" "01943" "TPM1_000083" "g.63356335C>G" "" "" "" "TPM1(NM_000366.5):c.845C>G (p.T282S), TPM1(NM_000366.6):c.845C>G (p.T282S), TPM1(NM_001365781.2):c.737C>G (p.T246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064136C>G" "" "likely benign" "" "0000555083" "0" "50" "15" "63356346" "63356346" "dup" "0" "02326" "TPM1_000039" "g.63356346dup" "" "" "" "TPM1(NM_000366.6):c.*2delCinsAC, TPM1(NM_000366.6):c.856dupA (p.*285=), TPM1(NM_001018005.1):c.851+5dupA, TPM1(NM_001365781.2):c.748dupA (p.*249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064147dup" "" "VUS" "" "0000555084" "0" "50" "15" "63356365" "63356365" "subst" "0" "02327" "TPM1_000155" "g.63356365G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064166G>A" "" "VUS" "" "0000555085" "0" "10" "15" "63356382" "63356382" "subst" "0.00176666" "02327" "TPM1_000156" "g.63356382A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064183A>T" "" "benign" "" "0000555086" "0" "10" "15" "63356440" "63356440" "dup" "0" "01943" "TPM1_000157" "g.63356440dup" "" "" "" "TPM1(NM_001018005.1):c.851+99dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064241dup" "" "benign" "" "0000555088" "0" "10" "15" "63356537" "63356537" "subst" "0" "02327" "TPM1_000159" "g.63356537A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064338A>G" "" "benign" "" "0000555089" "0" "10" "15" "63356574" "63356574" "subst" "0" "02327" "TPM1_000160" "g.63356574G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064375G>A" "" "benign" "" "0000555090" "0" "30" "15" "63358135" "63358135" "subst" "9.75709E-5" "02327" "TPM1_000161" "g.63358135G>A" "" "" "" "TPM1(NM_001365777.1):c.813G>A (p.S271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63065936G>A" "" "likely benign" "" "0000555091" "0" "30" "15" "63358166" "63358166" "subst" "0.000583341" "02327" "TPM1_000162" "g.63358166A>G" "" "" "" "TPM1(NM_001365777.1):c.844A>G (p.I282V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63065967A>G" "" "likely benign" "" "0000555092" "0" "30" "15" "63358174" "63358174" "subst" "0.000757071" "02327" "TPM1_000163" "g.63358174A>G" "" "" "" "TPM1(NM_001365777.1):c.852A>G (p.L284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63065975A>G" "" "likely benign" "" "0000555093" "0" "10" "15" "63358226" "63358226" "subst" "0.000476184" "02327" "TPM1_000164" "g.63358226C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63066027C>T" "" "benign" "" "0000555094" "0" "10" "15" "63358246" "63358246" "subst" "0" "02327" "TPM1_000165" "g.63358246G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63066047G>T" "" "benign" "" "0000555095" "0" "50" "15" "63362256" "63362256" "subst" "0" "02327" "TPM1_000167" "g.63362256A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63070057A>G" "" "VUS" "" "0000555096" "0" "10" "15" "63363402" "63363402" "subst" "0.00410557" "02327" "TPM1_000168" "g.63363402G>A" "" "" "" "TPM1(NM_001018004.2):c.*31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63071203G>A" "" "benign" "" "0000555097" "0" "30" "15" "63363402" "63363402" "subst" "0.00410557" "02326" "TPM1_000168" "g.63363402G>A" "" "" "" "TPM1(NM_001018004.2):c.*31G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63071203G>A" "" "likely benign" "" "0000555098" "0" "50" "15" "63363607" "63363607" "subst" "0" "02327" "TPM1_000169" "g.63363607T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63071408T>C" "" "VUS" "" "0000555099" "0" "50" "15" "63363947" "63363947" "subst" "0" "02327" "TPM1_000170" "g.63363947A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63071748A>G" "" "VUS" "" "0000615417" "0" "50" "15" "63335071" "63335071" "subst" "0" "01943" "TPM1_000172" "g.63335071A>G" "" "" "" "TPM1(NM_001018004.1):c.43A>G (p.K15E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63042872A>G" "" "VUS" "" "0000615418" "0" "90" "15" "63336295" "63336295" "subst" "0" "02330" "TPM1_000004" "g.63336295G>C" "" "" "" "TPM1(NM_001018004.2):c.184G>C (p.E62Q), TPM1(NM_001365776.1):c.184G>C (p.E62Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63044096G>C" "" "pathogenic" "" "0000615419" "0" "30" "15" "63340856" "63340857" "delins" "0" "02327" "TPM1_000173" "g.63340856_63340857delinsTT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048657_63048658delinsTT" "" "likely benign" "" "0000615420" "0" "30" "15" "63340857" "63340857" "subst" "0" "02327" "TPM1_000174" "g.63340857C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63048658C>T" "" "likely benign" "" "0000615421" "0" "50" "15" "63349257" "63349257" "subst" "8.12262E-6" "02325" "TPM1_000176" "g.63349257G>A" "" "" "" "TPM1(NM_001330351.2):c.206G>A (p.R69H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63057058G>A" "" "VUS" "" "0000615422" "0" "30" "15" "63351757" "63351757" "subst" "0.00025182" "02326" "TPM1_000041" "g.63351757T>C" "" "" "" "TPM1(NM_001018004.2):c.375-5T>C, TPM1(NM_001018005.1):c.375-5T>C, TPM1(NM_001330351.2):c.267-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63059558T>C" "" "likely benign" "" "0000615423" "0" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "02330" "TPM1_000009" "g.63353098G>A" "" "" "" "TPM1(NM_000366.6):c.523G>A (p.D175N), TPM1(NM_001018005.1):c.523G>A (p.D175N), TPM1(NM_001365776.1):c.523G>A (p.D175N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63060899G>A" "" "pathogenic" "" "0000615424" "0" "30" "15" "63353451" "63353451" "subst" "0.00093801" "02327" "TPM1_000064" "g.63353451A>G" "" "" "" "TPM1(NM_000366.5):c.618A>G (p.A206=), TPM1(NM_000366.6):c.618A>G (p.(Ala206=)), TPM1(NM_001018006.2):c.618A>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63061252A>G" "" "likely benign" "" "0000615425" "0" "30" "15" "63356440" "63356440" "dup" "0" "02327" "TPM1_000157" "g.63356440dup" "" "" "" "TPM1(NM_001018005.1):c.851+99dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63064241dup" "" "likely benign" "" "0000615426" "0" "30" "15" "63362136" "63362136" "subst" "6.49852E-5" "02325" "TPM1_000178" "g.63362136G>A" "" "" "" "TPM1(NM_001330351.2):c.732G>A (p.E244=), TPM1(NM_001365776.1):c.840G>A (p.E280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63069937G>A" "" "likely benign" "" "0000615427" "0" "30" "15" "63363291" "63363291" "subst" "0.000865947" "02327" "TPM1_000116" "g.63363291A>G" "" "" "" "TPM1(NM_001018004.2):c.775A>G (p.K259E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63071092A>G" "" "likely benign" "" "0000615428" "0" "50" "15" "63363366" "63363366" "subst" "4.11763E-6" "02330" "TPM1_000179" "g.63363366A>G" "" "" "" "TPM1(NM_001018004.2):c.850A>G (p.M284V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63071167A>G" "" "VUS" "" "0000623277" "0" "50" "15" "63335110" "63335110" "subst" "0" "02325" "TPM1_000120" "g.63335110G>A" "" "" "" "TPM1(NM_001018004.1):c.82G>A (p.D28N), TPM1(NM_001018004.2):c.82G>A (p.D28N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63042911G>A" "" "VUS" "" "0000623278" "0" "50" "15" "63349196" "63349196" "subst" "0" "02330" "TPM1_000175" "g.63349196G>A" "" "" "" "TPM1(NM_001365776.1):c.253G>A (p.V85I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63056997G>A" "" "VUS" "" "0000623279" "0" "30" "15" "63358135" "63358135" "subst" "9.75709E-5" "01943" "TPM1_000161" "g.63358135G>A" "" "" "" "TPM1(NM_001365777.1):c.813G>A (p.S271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63065936G>A" "" "likely benign" "" "0000623280" "0" "30" "15" "63362102" "63362102" "subst" "0.00010156" "02326" "TPM1_000177" "g.63362102G>A" "" "" "" "TPM1(NM_001330351.2):c.698G>A (p.R233H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63069903G>A" "" "likely benign" "" "0000649127" "1" "50" "15" "63336352" "63336352" "subst" "0" "03575" "TPM1_000180" "g.63336352G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs730881146}" "Germline" "" "rs730881146" "0" "" "" "g.63044153G>A" "" "VUS" "" "0000649128" "1" "50" "15" "63353123" "63353123" "subst" "1.62528E-5" "03575" "TPM1_000181" "g.63353123C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs397516376}" "Germline" "" "rs397516376" "0" "" "" "g.63060924C>T" "" "VUS" "" "0000649129" "1" "50" "15" "63353950" "63353950" "subst" "0" "03575" "TPM1_000070" "g.63353950C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs730881141}" "Germline" "" "rs730881141" "0" "" "" "g.63061751C>T" "" "VUS" "" "0000649130" "1" "70" "15" "63354429" "63354429" "subst" "0" "03575" "TPM1_000182" "g.63354429G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727503518}" "Germline" "" "rs727503518" "0" "" "" "g.63062230G>A" "" "likely pathogenic" "" "0000657626" "0" "90" "15" "63353950" "63353950" "subst" "0" "02330" "TPM1_000070" "g.63353950C>T" "" "" "" "TPM1(NM_001018004.2):c.602C>T (p.T201M), TPM1(NM_001365776.1):c.602C>T (p.T201M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63061751C>T" "" "pathogenic" "" "0000680241" "0" "50" "15" "63335070" "63335070" "subst" "0" "02327" "TPM1_000183" "g.63335070C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680242" "0" "10" "15" "63335991" "63335991" "subst" "0" "02330" "TPM1_000184" "g.63335991G>C" "" "" "" "TPM1(NM_001365778.1):c.201G>C (p.A67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680243" "0" "50" "15" "63340821" "63340821" "subst" "0" "02327" "TPM1_000025" "g.63340821G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680244" "0" "10" "15" "63353144" "63353144" "subst" "8.14133E-6" "02330" "TPM1_000185" "g.63353144C>T" "" "" "" "TPM1(NM_001365776.1):c.563+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680245" "0" "10" "15" "63354000" "63354000" "del" "0" "02330" "TPM1_000143" "g.63354000del" "" "" "" "TPM1(NM_001018005.1):c.639+13delG, TPM1(NM_001365776.1):c.639+13delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680246" "0" "50" "15" "63354431" "63354431" "subst" "0" "02326" "TPM1_000144" "g.63354431C>A" "" "" "" "TPM1(NM_001330351.2):c.549C>A (p.D183E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680247" "0" "30" "15" "63354804" "63354804" "subst" "0" "02327" "TPM1_000186" "g.63354804G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680248" "0" "50" "15" "63356295" "63356295" "subst" "0" "02330" "TPM1_000187" "g.63356295G>A" "" "" "" "TPM1(NM_001365781.2):c.697G>A (p.A233T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680249" "0" "90" "15" "63356332" "63356332" "subst" "4.07166E-6" "02327" "TPM1_000016" "g.63356332T>C" "" "" "" "TPM1(NM_000366.6):c.842T>C (p.M281T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680250" "0" "30" "15" "63362136" "63362136" "subst" "6.49852E-5" "02327" "TPM1_000178" "g.63362136G>A" "" "" "" "TPM1(NM_001330351.2):c.732G>A (p.E244=), TPM1(NM_001365776.1):c.840G>A (p.E280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691829" "0" "50" "15" "63356304" "63356304" "subst" "1.21928E-5" "02330" "TPM1_000188" "g.63356304G>A" "" "" "" "TPM1(NM_001365781.2):c.706G>A (p.E236K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000700590" "0" "50" "15" "63335110" "63335110" "subst" "0" "00006" "TPM1_000193" "g.63335110G>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63042911G>C" "" "VUS" "" "0000700591" "0" "50" "15" "63349245" "63349245" "subst" "0" "00006" "TPM1_000197" "g.63349245G>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057046G>C" "" "VUS" "" "0000700592" "0" "90" "15" "63351848" "63351848" "subst" "0" "00006" "TPM1_000207" "g.63351848T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63059649T>C" "" "pathogenic" "" "0000700593" "0" "50" "15" "63351862" "63351862" "subst" "0" "00006" "TPM1_000058" "g.63351862G>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63059663G>A" "" "VUS" "" "0000700594" "0" "50" "15" "63351868" "63351868" "subst" "0" "00006" "TPM1_000208" "g.63351868A>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63059669A>G" "" "VUS" "" "0000700595" "0" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "4/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000700596" "0" "50" "15" "63353123" "63353123" "subst" "1.62528E-5" "00006" "TPM1_000181" "g.63353123C>T" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63060924C>T" "" "VUS" "" "0000700597" "0" "50" "15" "63354418" "63354418" "subst" "4.06497E-6" "00006" "TPM1_000014" "g.63354418C>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062219C>T" "" "VUS" "" "0000700598" "0" "50" "15" "63354451" "63354451" "subst" "0" "00006" "TPM1_000075" "g.63354451A>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062252A>G" "" "VUS" "" "0000700599" "0" "50" "15" "63354473" "63354473" "subst" "0" "00006" "TPM1_000213" "g.63354473G>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062274G>C" "" "VUS" "" "0000700600" "0" "50" "15" "63354787" "63354787" "subst" "0" "00006" "TPM1_000026" "g.63354787G>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062588G>A" "" "VUS" "" "0000700601" "0" "70" "15" "63354818" "63354818" "subst" "0" "00006" "TPM1_000043" "g.63354818T>G" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062619T>G" "" "likely pathogenic" "" "0000700602" "0" "50" "15" "63354833" "63354833" "subst" "0" "00006" "TPM1_000216" "g.63354833A>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062634A>G" "" "VUS" "" "0000700603" "0" "50" "15" "63356264" "63356264" "subst" "0" "00006" "TPM1_000218" "g.63356264C>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63064065C>G" "" "VUS" "" "0000700604" "0" "50" "15" "63356287" "63356287" "subst" "5.28176E-5" "00006" "TPM1_000220" "g.63356287A>G" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63064088A>G" "" "VUS" "" "0000700605" "0" "50" "15" "63356340" "63356340" "subst" "0" "00006" "TPM1_000029" "g.63356340A>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63064141A>G" "" "VUS" "" "0000700695" "0" "70" "15" "63349280" "63349280" "subst" "0" "00006" "TPM1_000199" "g.63349280C>G" "1/355 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057081C>G" "" "likely pathogenic" "" "0000700696" "0" "50" "15" "63349302" "63349302" "subst" "0" "00006" "TPM1_000202" "g.63349302C>T" "1/355 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057103C>T" "" "VUS" "" "0000700697" "0" "50" "15" "63349311" "63349311" "subst" "0" "00006" "TPM1_000203" "g.63349311G>C" "1/355 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057112G>C" "" "VUS" "" "0000700698" "0" "90" "15" "63354462" "63354462" "subst" "0" "00006" "TPM1_000015" "g.63354462G>A" "1/355 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062263G>A" "" "pathogenic" "" "0000700699" "0" "50" "15" "63354469" "63354469" "subst" "0" "00006" "TPM1_000212" "g.63354469T>G" "1/355 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062270T>G" "" "VUS" "" "0000701460" "0" "70" "15" "63335074" "63335074" "subst" "0" "00006" "TPM1_000191" "g.63335074G>C" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63042875G>C" "" "likely pathogenic" "" "0000701461" "0" "50" "15" "63335086" "63335086" "subst" "0" "00006" "TPM1_000192" "g.63335086G>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63042887G>A" "" "VUS" "" "0000701462" "0" "50" "15" "63335092" "63335092" "subst" "4.14473E-6" "00006" "TPM1_000048" "g.63335092G>A" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63042893G>A" "" "VUS" "" "0000701463" "0" "50" "15" "63335110" "63335110" "subst" "0" "00006" "TPM1_000120" "g.63335110G>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63042911G>A" "" "VUS" "" "0000701464" "0" "50" "15" "63335110" "63335110" "subst" "0" "00006" "TPM1_000193" "g.63335110G>C" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63042911G>C" "" "VUS" "" "0000701465" "0" "50" "15" "63349195" "63349195" "subst" "4.06124E-6" "00006" "TPM1_000196" "g.63349195C>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63056996C>G" "" "VUS" "" "0000701466" "0" "50" "15" "63349248" "63349248" "subst" "0" "00006" "TPM1_000198" "g.63349248C>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63057049C>A" "" "VUS" "" "0000701467" "0" "70" "15" "63349286" "63349286" "subst" "0" "00006" "TPM1_000201" "g.63349286G>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057087G>A" "" "likely pathogenic" "" "0000701468" "0" "90" "15" "63351844" "63351844" "subst" "0" "00006" "TPM1_000206" "g.63351844C>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63059645C>G" "" "pathogenic" "" "0000701469" "0" "90" "15" "63353098" "63353098" "subst" "1.62476E-5" "00006" "TPM1_000009" "g.63353098G>A" "4/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63060899G>A" "" "pathogenic" "" "0000701470" "0" "50" "15" "63353123" "63353123" "subst" "1.62528E-5" "00006" "TPM1_000181" "g.63353123C>T" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63060924C>T" "" "VUS" "" "0000701471" "0" "70" "15" "63353134" "63353134" "subst" "0" "00006" "TPM1_000209" "g.63353134G>C" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63060935G>C" "" "likely pathogenic" "" "0000701472" "0" "70" "15" "63353922" "63353922" "subst" "0" "00006" "TPM1_000013" "g.63353922G>A" "13/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63061723G>A" "" "likely pathogenic" "" "0000701473" "0" "50" "15" "63354418" "63354418" "subst" "4.06497E-6" "00006" "TPM1_000014" "g.63354418C>T" "3/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63062219C>T" "" "VUS" "" "0000701474" "0" "70" "15" "63354429" "63354429" "subst" "0" "00006" "TPM1_000182" "g.63354429G>A" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062230G>A" "" "likely pathogenic" "" "0000701475" "0" "50" "15" "63354450" "63354450" "subst" "0" "00006" "TPM1_000211" "g.63354450A>C" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63062251A>C" "" "VUS" "" "0000701476" "0" "70" "15" "63354834" "63354834" "subst" "0" "00006" "TPM1_000217" "g.63354834T>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062635T>G" "" "likely pathogenic" "" "0000701477" "0" "70" "15" "63356280" "63356280" "subst" "0" "00006" "TPM1_000219" "g.63356280A>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63064081A>G" "" "likely pathogenic" "" "0000701478" "0" "50" "15" "63356319" "63356319" "subst" "2.03369E-5" "00006" "TPM1_000080" "g.63356319G>A" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour benign" "Germline" "" "" "0" "" "" "g.63064120G>A" "" "VUS" "" "0000701479" "0" "50" "15" "63356325" "63356325" "subst" "0" "00006" "TPM1_000221" "g.63356325A>C" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63064126A>C" "" "VUS" "" "0000701480" "0" "50" "15" "63356331" "63356331" "subst" "2.85035E-5" "00006" "TPM1_000222" "g.63356331A>G" "2/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63064132A>G" "" "VUS" "" "0000701481" "0" "50" "15" "63356332" "63356332" "subst" "4.07166E-6" "00006" "TPM1_000016" "g.63356332T>C" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63064133T>C" "" "VUS" "" "0000701482" "0" "50" "15" "63356340" "63356340" "subst" "0" "00006" "TPM1_000029" "g.63356340A>G" "1/2912 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63064141A>G" "" "VUS" "" "0000701706" "0" "50" "15" "63335030" "63335030" "del" "0" "00006" "TPM1_000189" "g.63335030del" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "2delT" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63042831del" "" "VUS" "" "0000701707" "0" "70" "15" "63335051" "63335051" "subst" "0" "00006" "TPM1_000190" "g.63335051T>G" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63042852T>G" "" "likely pathogenic" "" "0000701708" "0" "50" "15" "63335119" "63335119" "subst" "0" "00006" "TPM1_000194" "g.63335119G>A" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63042920G>A" "" "VUS" "" "0000701709" "0" "50" "15" "63335125" "63335125" "subst" "0" "00006" "TPM1_000049" "g.63335125G>A" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63042926G>A" "" "VUS" "" "0000701710" "0" "50" "15" "63336229" "63336229" "subst" "4.06838E-6" "00006" "TPM1_000195" "g.63336229G>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63044030G>T" "" "VUS" "" "0000701711" "0" "70" "15" "63349218" "63349218" "subst" "0" "00006" "TPM1_000022" "g.63349218T>C" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057019T>C" "" "likely pathogenic" "" "0000701712" "0" "70" "15" "63349280" "63349280" "subst" "0" "00006" "TPM1_000199" "g.63349280C>G" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057081C>G" "" "likely pathogenic" "" "0000701713" "0" "70" "15" "63349284" "63349284" "subst" "0" "00006" "TPM1_000200" "g.63349284A>G" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63057085A>G" "" "likely pathogenic" "" "0000701714" "0" "70" "15" "63351803" "63351803" "subst" "0" "00006" "TPM1_000204" "g.63351803A>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63059604A>T" "" "likely pathogenic" "" "0000701715" "0" "70" "15" "63351810" "63351810" "subst" "0" "00006" "TPM1_000205" "g.63351810G>C" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63059611G>C" "" "likely pathogenic" "" "0000701716" "0" "70" "15" "63353980" "63353980" "subst" "0" "00006" "TPM1_000210" "g.63353980C>G" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63061781C>G" "" "likely pathogenic" "" "0000701717" "0" "90" "15" "63354462" "63354462" "subst" "0" "00006" "TPM1_000015" "g.63354462G>A" "2/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062263G>A" "" "pathogenic" "" "0000701718" "0" "50" "15" "63354784" "63354784" "subst" "0" "00006" "TPM1_000214" "g.63354784C>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63062585C>T" "" "VUS" "" "0000701719" "0" "70" "15" "63354797" "63354797" "subst" "4.06128E-6" "00006" "TPM1_000077" "g.63354797C>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.63062598C>T" "" "likely pathogenic" "" "0000701720" "0" "50" "15" "63354806" "63354806" "subst" "0" "00006" "TPM1_000215" "g.63354806C>T" "1/756 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.63062607C>T" "" "VUS" "" "0000725233" "0" "10" "15" "63335055" "63335055" "subst" "0.000110571" "02330" "TPM1_000119" "g.63335055G>A" "" "" "" "TPM1(NM_001365776.1):c.27G>A (p.Q9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725234" "0" "10" "15" "63336035" "63336035" "subst" "0" "02330" "TPM1_000223" "g.63336035C>T" "" "" "" "TPM1(NM_001365776.1):c.115-191C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000725235" "0" "30" "15" "63340816" "63340816" "subst" "1.56671E-5" "01943" "TPM1_000098" "g.63340816C>G" "" "" "" "TPM1(NM_001018008.2):c.42C>G (p.I14M), TPM1(NM_001330351.1):c.42C>G (p.I14M), TPM1(NM_001365781.2):c.42C>G (p.I14M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725236" "0" "50" "15" "63351856" "63351856" "subst" "0" "02326" "TPM1_000224" "g.63351856G>A" "" "" "" "TPM1(NM_001330351.2):c.361G>A (p.D121N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725237" "0" "30" "15" "63356335" "63356335" "subst" "0.000252573" "02330" "TPM1_000083" "g.63356335C>G" "" "" "" "TPM1(NM_000366.5):c.845C>G (p.T282S), TPM1(NM_000366.6):c.845C>G (p.T282S), TPM1(NM_001365781.2):c.737C>G (p.T246S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000790040" "1" "90" "15" "63354418" "63354418" "subst" "4.06497E-6" "00006" "TPM1_000014" "g.63354418C>T" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PS3 PM1 PM2 PP2 PP3 PP5; no genotypes reported" "Germline" "" "" "0" "" "" "g.63062219C>T" "" "pathogenic" "" "0000790044" "1" "70" "15" "63353946" "63353946" "subst" "0" "00006" "TPM1_000225" "g.63353946G>C" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PM1 PM2 PP2 PP3; no genotypes reported" "Germline" "" "" "0" "" "" "g.63061747G>C" "" "likely pathogenic" "" "0000790051" "1" "70" "15" "63356332" "63356332" "subst" "4.07166E-6" "00006" "TPM1_000016" "g.63356332T>C" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PS4-M PM2 PP2 PP3; no genotypes reported" "Germline" "" "" "0" "" "" "g.63064133T>C" "" "likely pathogenic" "" "0000806847" "0" "50" "15" "63349318" "63349318" "subst" "0" "02330" "TPM1_000226" "g.63349318G>C" "" "" "" "TPM1(NM_001365776.1):c.374+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806848" "0" "30" "15" "63351861" "63351861" "subst" "2.03131E-5" "02325" "TPM1_000227" "g.63351861C>T" "" "" "" "TPM1(NM_001018005.2):c.474C>T (p.A158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806849" "0" "30" "15" "63358166" "63358166" "subst" "0.000583341" "02326" "TPM1_000162" "g.63358166A>G" "" "" "" "TPM1(NM_001365777.1):c.844A>G (p.I282V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806850" "0" "10" "15" "63363351" "63363351" "subst" "0.000254628" "02330" "TPM1_000228" "g.63363351C>T" "" "" "" "TPM1(NM_001365778.1):c.961C>T (p.L321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000823575" "0" "70" "15" "63351785" "63351785" "subst" "0" "03779" "TPM1_000229" "g.63351785G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000854115" "0" "10" "15" "63335049" "63335049" "subst" "0" "02330" "TPM1_000230" "g.63335049G>A" "" "" "" "TPM1(NM_001365776.1):c.21G>A (p.K7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854117" "0" "30" "15" "63335964" "63335964" "subst" "0.00020572" "02327" "TPM1_000054" "g.63335964C>T" "" "" "" "TPM1(NM_001018007.2):c.174C>T (p.D58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854118" "0" "50" "15" "63336203" "63336206" "dup" "0" "02330" "TPM1_000232" "g.63336203_63336206dup" "" "" "" "TPM1(NM_001365776.1):c.115-23_115-20dupTGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854119" "0" "50" "15" "63336337" "63336337" "subst" "0" "01943" "TPM1_000233" "g.63336337A>C" "" "" "" "TPM1(NM_001018020.1):c.240+307A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854120" "0" "30" "15" "63354767" "63354767" "subst" "0" "02327" "TPM1_000234" "g.63354767C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854121" "0" "30" "15" "63356388" "63356388" "subst" "0" "02327" "TPM1_000235" "g.63356388A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854122" "0" "30" "15" "63358166" "63358166" "subst" "0.000583341" "01943" "TPM1_000162" "g.63358166A>G" "" "" "" "TPM1(NM_001365777.1):c.844A>G (p.I282V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854123" "0" "30" "15" "63358174" "63358174" "subst" "0.000757071" "02326" "TPM1_000163" "g.63358174A>G" "" "" "" "TPM1(NM_001365777.1):c.852A>G (p.L284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863920" "0" "50" "15" "63335125" "63335125" "subst" "0" "02325" "TPM1_000049" "g.63335125G>A" "" "" "" "TPM1(NM_001018004.2):c.97G>A (p.E33K), TPM1(NM_001018005.2):c.97G>A (p.E33K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863921" "0" "50" "15" "63340816" "63340816" "subst" "1.56671E-5" "02330" "TPM1_000098" "g.63340816C>G" "" "" "" "TPM1(NM_001018008.2):c.42C>G (p.I14M), TPM1(NM_001330351.1):c.42C>G (p.I14M), TPM1(NM_001365781.2):c.42C>G (p.I14M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878850" "0" "90" "15" "63351820" "63351820" "subst" "0" "04384" "TPM1_000236" "g.63351820G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000878874" "0" "70" "15" "63353983" "63353983" "subst" "0" "04384" "TPM1_000237" "g.63353983A>G" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000881317" "0" "70" "15" "63351821" "63351821" "subst" "0" "02300" "TPM1_000238" "g.63351821A>G" "" "{PMID:Marinakis 2021:34008892}" "" "NM_001018020.2:c.434A>G (Glu145Gly)" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.63059622A>G" "" "likely pathogenic (dominant)" "ACMG" "0000892196" "0" "50" "15" "63335110" "63335110" "subst" "0" "02326" "TPM1_000193" "g.63335110G>C" "" "" "" "TPM1(NM_001365776.1):c.82G>C (p.D28H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892197" "0" "10" "15" "63335887" "63335887" "subst" "6.12745E-5" "02330" "TPM1_000239" "g.63335887G>A" "" "" "" "TPM1(NM_001365776.1):c.115-339G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892199" "0" "70" "15" "63349193" "63349193" "subst" "4.06118E-6" "02326" "TPM1_000034" "g.63349193G>A" "" "" "" "TPM1(NM_001018004.2):c.250G>A (p.D84N), TPM1(NM_001018005.1):c.250G>A (p.D84N), TPM1(NM_001365776.1):c.250G>A (p.D84N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892200" "0" "50" "15" "63349283" "63349283" "subst" "0" "02325" "TPM1_000135" "g.63349283G>C" "" "" "" "TPM1(NM_001018005.2):c.340G>C (p.E114Q), TPM1(NM_001330351.2):c.232G>C (p.E78Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892201" "0" "90" "15" "63351848" "63351848" "subst" "0" "02330" "TPM1_000207" "g.63351848T>C" "" "" "" "TPM1(NM_001365776.1):c.461T>C (p.I154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892202" "0" "30" "15" "63353154" "63353154" "subst" "4.89261E-5" "02326" "TPM1_000240" "g.63353154G>A" "" "" "" "TPM1(NM_001365776.1):c.563+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892203" "0" "30" "15" "63353391" "63353391" "subst" "0" "02330" "TPM1_000241" "g.63353391T>C" "" "" "" "TPM1(NM_001365776.1):c.563+253T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892204" "0" "90" "15" "63353922" "63353922" "subst" "0" "02330" "TPM1_000013" "g.63353922G>A" "" "" "" "TPM1(NM_001365776.1):c.574G>A (p.E192K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892205" "0" "50" "15" "63354418" "63354418" "subst" "0" "02327" "TPM1_000242" "g.63354418C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892206" "0" "30" "15" "63356346" "63356346" "dup" "0" "02330" "TPM1_000039" "g.63356346dup" "" "" "" "TPM1(NM_000366.6):c.*2delCinsAC, TPM1(NM_000366.6):c.856dupA (p.*285=), TPM1(NM_001018005.1):c.851+5dupA, TPM1(NM_001365781.2):c.748dupA (p.*249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914338" "0" "50" "15" "63353090" "63353090" "subst" "0" "02327" "TPM1_000008" "g.63353090T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914339" "0" "50" "15" "63362074" "63362074" "subst" "4.06355E-6" "02327" "TPM1_000243" "g.63362074C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914340" "0" "10" "15" "63363401" "63363402" "ins" "0" "02325" "TPM1_000244" "g.63363401_63363402insATTTT" "" "" "" "TPM1(NM_001365776.1):c.*1259_*1260insATTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000922734" "0" "90" "15" "63335090" "63335090" "subst" "0" "03779" "TPM1_000245" "g.63335090G>T" "" "" "" "" "" "Unknown" "" "rs730881151" "0" "" "" "" "" "pathogenic" "" "0000926011" "0" "10" "15" "63353933" "63353933" "subst" "4.06204E-6" "02330" "TPM1_000246" "g.63353933A>G" "" "" "" "TPM1(NM_001365776.1):c.585A>G (p.E195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926012" "0" "10" "15" "63356318" "63356318" "subst" "8.13365E-6" "02330" "TPM1_000153" "g.63356318C>T" "" "" "" "TPM1(NM_001365781.2):c.720C>T (p.H240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926013" "0" "50" "15" "63356341" "63356341" "subst" "4.07983E-6" "02325" "TPM1_000247" "g.63356341T>C" "" "" "" "TPM1(NM_001018005.2):c.851T>C (p.I284T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926014" "0" "30" "15" "63358083" "63358083" "subst" "0" "02330" "TPM1_000248" "g.63358083A>G" "" "" "" "TPM1(NM_001365781.2):c.*1738A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926015" "0" "10" "15" "63358166" "63358166" "subst" "0.000583341" "02330" "TPM1_000162" "g.63358166A>G" "" "" "" "TPM1(NM_001365777.1):c.844A>G (p.I282V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930413" "0" "10" "15" "63335895" "63335895" "subst" "0.000404785" "02330" "TPM1_000249" "g.63335895C>T" "" "" "" "TPM1(NM_001365776.1):c.115-331C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950404" "0" "10" "15" "63340828" "63340828" "subst" "0" "02330" "TPM1_000250" "g.63340828G>A" "" "" "" "TPM1(NM_001365781.2):c.54G>A (p.Q18=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950405" "0" "50" "15" "63349301" "63349301" "subst" "0" "02330" "TPM1_000251" "g.63349301G>A" "" "" "" "TPM1(NM_001365776.1):c.358G>A (p.A120T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954800" "0" "70" "15" "63349308" "63349308" "subst" "0" "03779" "TPM1_000252" "g.63349308A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000957748" "0" "50" "15" "63354797" "63354797" "subst" "4.06128E-6" "00006" "TPM1_000077" "g.63354797C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.63062598C>T" "" "VUS" "" "0000957836" "0" "70" "15" "63340632" "63340632" "subst" "0" "00006" "TPM1_000253" "g.63340632G>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "TPM1 C132X" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.63048433G>T" "" "likely pathogenic" "" "0000957881" "0" "50" "15" "63363291" "63363291" "subst" "0.000865947" "00006" "TPM1_000116" "g.63363291A>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "TPM1 K259E" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000957884" "0" "70" "15" "63340850" "63340850" "subst" "7.6056E-6" "00006" "TPM1_000254" "g.63340850G>C" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "TPM1 E26Q" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.63048651G>C" "" "likely pathogenic" "" "0000957893" "0" "50" "15" "63363291" "63363291" "subst" "0.000865947" "00006" "TPM1_000116" "g.63363291A>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "TPM1 K259E" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000959833" "0" "50" "15" "63349041" "63349041" "subst" "0" "03779" "TPM1_000255" "g.63349041A>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs966125403" "0" "" "" "" "" "VUS" "" "0000967878" "0" "10" "15" "63335907" "63335907" "subst" "0.0025136" "02326" "TPM1_000051" "g.63335907C>G" "" "" "" "TPM1(NM_001018007.1):c.117C>G (p.(=)), TPM1(NM_001018007.2):c.117C>G (p.L39=), TPM1(NM_001018020.1):c.117C>G (p.L39=), TPM1(NM_001365778.1):c.117C>..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967879" "0" "50" "15" "63349275" "63349275" "subst" "0" "01943" "TPM1_000256" "g.63349275A>C" "" "" "" "TPM1(NM_001018005.1):c.332A>C (p.Q111P), TPM1(NM_001330351.1):c.224A>C (p.Q75P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967880" "0" "10" "15" "63354458" "63354458" "subst" "0" "02330" "TPM1_000257" "g.63354458T>C" "" "" "" "TPM1(NM_001365776.1):c.684T>C (p.L228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000967881" "0" "30" "15" "63358135" "63358135" "subst" "9.75709E-5" "02326" "TPM1_000161" "g.63358135G>A" "" "" "" "TPM1(NM_001365777.1):c.813G>A (p.S271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981329" "0" "30" "15" "63335146" "63335146" "subst" "0" "02325" "TPM1_000258" "g.63335146T>G" "" "" "" "TPM1(NM_001018005.2):c.114+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981330" "0" "30" "15" "63353451" "63353451" "subst" "0.00093801" "01804" "TPM1_000064" "g.63353451A>G" "" "" "" "TPM1(NM_000366.5):c.618A>G (p.A206=), TPM1(NM_000366.6):c.618A>G (p.(Ala206=)), TPM1(NM_001018006.2):c.618A>G (p.A206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001561" "0" "50" "15" "63353404" "63353404" "subst" "2.03047E-5" "02325" "TPM1_000259" "g.63353404C>T" "" "" "" "TPM1(NM_001018005.2):c.563+266C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001562" "0" "50" "15" "63353450" "63353450" "subst" "1.62429E-5" "01804" "TPM1_000260" "g.63353450C>T" "" "" "" "TPM1(NM_000366.5):c.617C>T (p.(Ala206Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001563" "0" "50" "15" "63353977" "63353977" "subst" "0" "02330" "TPM1_000261" "g.63353977A>G" "" "" "" "TPM1(NM_001365776.1):c.629A>G (p.Q210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001564" "0" "30" "15" "63354938" "63354940" "del" "0" "02327" "TPM1_000262" "g.63354938_63354940del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001565" "0" "30" "15" "63362136" "63362136" "subst" "6.49852E-5" "02326" "TPM1_000178" "g.63362136G>A" "" "" "" "TPM1(NM_001330351.2):c.732G>A (p.E244=), TPM1(NM_001365776.1):c.840G>A (p.E280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001566" "0" "50" "15" "63363369" "63363369" "subst" "0" "02330" "TPM1_000263" "g.63363369T>G" "" "" "" "TPM1(NM_001365778.1):c.979T>G (p.*327Gext*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026475" "0" "50" "15" "63335074" "63335074" "subst" "0" "02330" "TPM1_000191" "g.63335074G>C" "" "" "" "TPM1(NM_001365776.1):c.46G>C (p.E16Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026476" "0" "50" "15" "63335938" "63335938" "subst" "0" "02326" "TPM1_000122" "g.63335938C>G" "" "" "" "TPM1(NM_001365778.1):c.148C>G (p.L50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026477" "0" "50" "15" "63336252" "63336252" "subst" "0" "02330" "TPM1_000264" "g.63336252A>G" "" "" "" "TPM1(NM_001365776.1):c.141A>G (p.Q47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026478" "0" "70" "15" "63354462" "63354462" "subst" "0" "02325" "TPM1_000015" "g.63354462G>A" "" "" "" "TPM1(NM_001018005.2):c.688G>A (p.D230N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001026479" "0" "50" "15" "63356259" "63356259" "subst" "0" "02326" "TPM1_000265" "g.63356259A>G" "" "" "" "TPM1(NM_001365776.1):c.772+1415A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040483" "0" "50" "15" "63336264" "63336264" "subst" "0" "02325" "TPM1_000266" "g.63336264G>C" "" "" "" "TPM1(NM_001018005.2):c.153G>C (p.K51N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040484" "0" "50" "15" "63340781" "63340781" "subst" "7.45774E-5" "02330" "TPM1_000267" "g.63340781G>A" "" "" "" "TPM1(NM_001365781.2):c.7G>A (p.G3R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044597" "0" "50" "15" "63354827" "63354827" "subst" "0" "03779" "TPM1_000268" "g.63354827G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001046501" "0" "70" "15" "63354418" "63354418" "subst" "4.06497E-6" "02325" "TPM1_000014" "g.63354418C>T" "" "" "" "TPM1(NM_001018005.2):c.644C>T (p.S215L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046886" "0" "70" "15" "63351847" "63351847" "subst" "0" "03779" "TPM1_000269" "g.63351847A>G" "" "" "" "" "" "Unknown" "" "rs1555408679" "0" "" "" "" "" "likely pathogenic" "" "0001046962" "0" "70" "15" "63336295" "63336295" "subst" "0" "03779" "TPM1_000270" "g.63336295G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001046981" "0" "50" "15" "63356334" "63356334" "subst" "0" "03779" "TPM1_000271" "g.63356334A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001048353" "0" "50" "15" "63335029" "63335029" "subst" "4.10806E-6" "03779" "TPM1_000272" "g.63335029A>G" "" "" "" "" "" "Unknown" "" "rs367543668" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TPM1 ## Count = 396 "{{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}}" "0000095235" "00025358" "50" "375" "-3" "375" "-3" "c.375-3C>T" "r.(?)" "p.(=)" "" "0000095526" "00025358" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Glu156Lys)" "" "0000095673" "00025358" "50" "375" "-5" "375" "-5" "c.375-5T>C" "r.(?)" "p.(=)" "" "0000095723" "00025358" "50" "653" "0" "653" "0" "c.653A>G" "r.(?)" "p.(Glu218Gly)" "" "0000095814" "00025358" "50" "746" "0" "746" "0" "c.746T>G" "r.(?)" "p.(Leu249Trp)" "" "0000096977" "00025358" "50" "375" "-5" "375" "-5" "c.375-5T>C" "r.(?)" "p.(=)" "" "0000175264" "00025358" "00" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ser215Leu)" "" "0000218387" "00025358" "50" "105" "0" "105" "0" "c.105G>C" "r.(?)" "p.(Arg35Ser)" "" "0000247305" "00025358" "10" "563" "313" "563" "313" "c.563+313A>G" "r.(=)" "p.(=)" "" "0000247309" "00025358" "50" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Ile284Val)" "" "0000247314" "00025358" "10" "6048" "0" "6048" "0" "c.*5193A>G" "r.(=)" "p.(=)" "" "0000247329" "00025358" "10" "177" "0" "177" "0" "c.177A>G" "r.(?)" "p.(Lys59=)" "" "0000247330" "00025358" "10" "618" "0" "618" "0" "c.618A>G" "r.(?)" "p.(Ser206=)" "" "0000247352" "00025358" "50" "585" "0" "585" "0" "c.585A>C" "r.(?)" "p.(Glu195Asp)" "" "0000247355" "00025358" "50" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Lys226Arg)" "" "0000247356" "00025358" "50" "563" "317" "563" "317" "c.563+317A>G" "r.(=)" "p.(=)" "" "0000248080" "00025358" "30" "563" "313" "563" "313" "c.563+313A>G" "r.(=)" "p.(=)" "" "0000249201" "00025358" "10" "240" "4296" "240" "4296" "c.240+4296A>G" "r.(=)" "p.(=)" "" "0000249722" "00025358" "50" "764" "0" "764" "0" "c.764A>T" "r.(?)" "p.(Asp255Val)" "" "0000250771" "00025358" "30" "563" "313" "563" "313" "c.563+313A>G" "r.(=)" "p.(=)" "" "0000251753" "00025358" "30" "6048" "0" "6048" "0" "c.*5193A>G" "r.(=)" "p.(=)" "" "0000252419" "00025358" "70" "607" "0" "607" "0" "c.607A>G" "r.(?)" "p.(Asn203Asp)" "" "0000252643" "00025358" "50" "4898" "0" "4898" "0" "c.*4043A>C" "r.(=)" "p.(=)" "" "0000252660" "00025358" "50" "635" "0" "635" "0" "c.635A>T" "r.(?)" "p.(Glu212Val)" "" "0000253990" "00025358" "30" "563" "313" "563" "313" "c.563+313A>G" "r.(=)" "p.(=)" "" "0000255825" "00025358" "50" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Ile284Val)" "" "0000256570" "00025358" "50" "235" "0" "235" "0" "c.235A>G" "r.(?)" "p.(Thr79Ala)" "" "0000309386" "00025358" "10" "-13" "0" "-13" "0" "c.-13C>T" "r.(?)" "p.(=)" "" "0000309387" "00025358" "50" "851" "6" "851" "6" "c.851+6C>T" "r.(=)" "p.(=)" "" "0000309388" "00025358" "10" "852" "-17" "852" "-17" "c.852-17T>C" "r.(=)" "p.(=)" "" "0000309389" "00025358" "10" "114" "14" "114" "14" "c.114+14C>T" "r.(=)" "p.(=)" "" "0000309390" "00025358" "10" "115" "-189" "115" "-189" "c.115-189G>T" "r.(=)" "p.(=)" "" "0000309391" "00025358" "10" "115" "-319" "115" "-319" "c.115-319C>G" "r.(=)" "p.(=)" "" "0000309393" "00025358" "10" "115" "-277" "115" "-277" "c.115-277G>A" "r.(=)" "p.(=)" "" "0000309394" "00025358" "10" "115" "-262" "115" "-262" "c.115-262C>T" "r.(=)" "p.(=)" "" "0000309396" "00025358" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Tyr60=)" "" "0000309397" "00025358" "10" "115" "-235" "115" "-235" "c.115-235G>A" "r.(=)" "p.(=)" "" "0000309398" "00025358" "10" "241" "-19" "241" "-19" "c.241-19C>G" "r.(=)" "p.(=)" "" "0000309399" "00025358" "10" "241" "-8" "241" "-8" "c.241-8C>T" "r.(=)" "p.(=)" "" "0000309400" "00025358" "90" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Asp84Asn)" "" "0000309401" "00025358" "10" "375" "-3" "375" "-3" "c.375-3C>T" "r.spl?" "p.?" "" "0000309402" "00025358" "10" "375" "-5" "375" "-5" "c.375-5T>C" "r.spl?" "p.?" "" "0000309403" "00025358" "10" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Ala151=)" "" "0000309404" "00025358" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Tyr162=)" "" "0000309405" "00025358" "10" "493" "-20" "493" "-20" "c.493-20G>A" "r.(=)" "p.(=)" "" "0000309406" "00025358" "30" "564" "-12" "564" "-12" "c.564-12C>G" "r.(=)" "p.(=)" "" "0000309407" "00025358" "70" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Ala22Thr)" "" "0000309408" "00025358" "70" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ala242Val)" "" "0000309409" "00025358" "50" "781" "0" "781" "0" "c.781T>C" "r.(?)" "p.(Tyr261His)" "" "0000309410" "00025358" "90" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Met281Thr)" "" "0000309411" "00025358" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Glu33Lys)" "" "0000311984" "00025358" "10" "240" "4354" "240" "4354" "c.240+4354C>T" "r.(=)" "p.(=)" "" "0000311985" "00025358" "50" "851" "5" "851" "5" "c.851+5dup" "r.spl?" "p.?" "" "0000311986" "00025358" "30" "240" "4534" "240" "4534" "c.240+4534C>T" "r.(=)" "p.(=)" "" "0000311987" "00025358" "30" "114" "14" "114" "14" "c.114+14C>T" "r.(=)" "p.(=)" "" "0000311988" "00025358" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Tyr60=)" "" "0000311989" "00025358" "90" "184" "0" "184" "0" "c.184G>C" "r.(?)" "p.(Glu62Gln)" "" "0000311990" "00025358" "30" "241" "-8" "241" "-8" "c.241-8C>T" "r.(=)" "p.(=)" "" "0000311991" "00025358" "30" "240" "4465" "240" "4465" "c.240+4465C>G" "r.(=)" "p.(=)" "" "0000311992" "00025358" "10" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Ala151=)" "" "0000311993" "00025358" "90" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Asp159Asn)" "" "0000311994" "00025358" "30" "498" "0" "498" "0" "c.498C>T" "r.(?)" "p.(Ala166=)" "" "0000311995" "00025358" "30" "564" "-11" "564" "-11" "c.564-11G>A" "r.(=)" "p.(=)" "" "0000311996" "00025358" "90" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Thr201Met)" "" "0000311997" "00025358" "50" "703" "-3" "703" "-3" "c.703-3C>T" "r.spl?" "p.?" "" "0000311998" "00025358" "70" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ala242Val)" "" "0000311999" "00025358" "30" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000312000" "00025358" "50" "240" "4512" "240" "4512" "c.240+4512C>T" "r.(=)" "p.(=)" "" "0000314786" "00025358" "30" "852" "-50" "852" "-50" "c.852-50T>C" "r.(=)" "p.(=)" "" "0000314787" "00025358" "30" "852" "-50" "852" "-49" "c.852-50_852-49del" "r.(=)" "p.(=)" "" "0000314788" "00025358" "30" "114" "14" "114" "14" "c.114+14C>T" "r.(=)" "p.(=)" "" "0000314789" "00025358" "30" "240" "4544" "240" "4544" "c.240+4544C>A" "r.(=)" "p.(=)" "" "0000314790" "00025358" "50" "169" "0" "169" "0" "c.169C>G" "r.(?)" "p.(Leu57Val)" "" "0000314791" "00025358" "10" "375" "-3" "375" "-3" "c.375-3C>T" "r.spl?" "p.?" "" "0000314792" "00025358" "10" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Ala151=)" "" "0000314793" "00025358" "90" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Arg160His)" "" "0000314794" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "" "0000314795" "00025358" "30" "591" "0" "591" "0" "c.591G>A" "r.(?)" "p.(Leu197=)" "" "0000314796" "00025358" "10" "639" "22" "639" "22" "c.639+22G>C" "r.(=)" "p.(=)" "" "0000314797" "00025358" "50" "832" "0" "832" "0" "c.832C>G" "r.(?)" "p.(Leu278Val)" "" "0000314798" "00025358" "30" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(Thr282Ser)" "" "0000316938" "00025358" "10" "114" "14" "114" "14" "c.114+14C>T" "r.(=)" "p.(=)" "" "0000316939" "00025358" "10" "115" "-32" "115" "-32" "c.115-32del" "r.(=)" "p.(=)" "" "0000316940" "00025358" "10" "115" "-319" "115" "-319" "c.115-319C>G" "r.(=)" "p.(=)" "" "0000316941" "00025358" "30" "115" "-316" "115" "-316" "c.115-316G>A" "r.(=)" "p.(=)" "" "0000316942" "00025358" "30" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Tyr60=)" "" "0000316943" "00025358" "90" "184" "0" "184" "0" "c.184G>C" "r.(?)" "p.(Glu62Gln)" "" "0000316944" "00025358" "10" "240" "21" "240" "21" "c.240+21C>T" "r.(=)" "p.(=)" "" "0000316945" "00025358" "70" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Asp84Asn)" "" "0000316946" "00025358" "10" "374" "65" "374" "65" "c.374+65del" "r.(=)" "p.(=)" "" "0000316947" "00025358" "30" "375" "-5" "375" "-5" "c.375-5T>C" "r.spl?" "p.?" "" "0000316948" "00025358" "10" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Ala151=)" "" "0000316949" "00025358" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Tyr162=)" "" "0000316950" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "" "0000316951" "00025358" "10" "639" "21" "639" "21" "c.639+21G>C" "r.(=)" "p.(=)" "" "0000316952" "00025358" "10" "639" "22" "639" "22" "c.639+22G>C" "r.(=)" "p.(=)" "" "0000316953" "00025358" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Asp258=)" "" "0000316954" "00025358" "50" "851" "5" "851" "5" "c.851+5dup" "r.spl?" "p.?" "" "0000324148" "00025358" "50" "115" "-319" "115" "-319" "c.115-319C>G" "r.(=)" "p.(=)" "" "0000324149" "00025358" "50" "4858" "0" "4858" "0" "c.*4003C>T" "r.(=)" "p.(=)" "" "0000356897" "00025358" "70" "251" "0" "251" "0" "c.251A>C" "r.(?)" "p.(Asp84Ala)" "" "0000445532" "00025358" "90" "515" "0" "515" "0" "c.515T>C" "r.(?)" "p.(Ile172Thr)" "5" "0000446786" "00025358" "90" "184" "0" "184" "0" "c.184G>C" "r.(?)" "p.(Glu62Gln)" "2" "0000446787" "00025358" "90" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "2" "0000446788" "00025358" "90" "209" "0" "209" "0" "c.209A>C" "r.(?)" "p.(Lys70Thr)" "2" "0000446789" "00025358" "90" "284" "0" "284" "0" "c.284T>C" "r.(?)" "p.(Val95Ala)" "3" "0000446790" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "5" "0000446791" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "5" "0000446792" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" 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"p.(Asp28Asn)" "" "0000555019" "00025358" "30" "114" "14" "114" "14" "c.114+14C>T" "r.(=)" "p.(=)" "" "0000555020" "00025358" "10" "114" "91" "114" "91" "c.114+91G>A" "r.(=)" "p.(=)" "" "0000555021" "00025358" "10" "115" "-316" "115" "-316" "c.115-316G>A" "r.(=)" "p.(=)" "" "0000555022" "00025358" "30" "115" "-316" "115" "-316" "c.115-316G>A" "r.(=)" "p.(=)" "" "0000555023" "00025358" "30" "115" "-316" "115" "-316" "c.115-316G>A" "r.(=)" "p.(=)" "" "0000555024" "00025358" "30" "115" "-288" "115" "-288" "c.115-288C>G" "r.(=)" "p.(=)" "" "0000555025" "00025358" "50" "115" "-278" "115" "-278" "c.115-278C>T" "r.(=)" "p.(=)" "" "0000555026" "00025358" "30" "115" "-277" "115" "-277" "c.115-277G>A" "r.(=)" "p.(=)" "" "0000555027" "00025358" "50" "115" "-233" "115" "-233" "c.115-233A>T" "r.(=)" "p.(=)" "" "0000555028" "00025358" "30" "115" "-207" "115" "-207" "c.115-207G>A" "r.(=)" "p.(=)" "" "0000555029" "00025358" "10" "115" "-184" "115" "-184" "c.115-184G>A" "r.(=)" "p.(=)" "" "0000555030" "00025358" "50" "115" "-14" "115" "-14" "c.115-14T>A" "r.(=)" "p.(=)" "" "0000555031" "00025358" "30" "120" "0" "120" "0" "c.120A>G" "r.(?)" "p.(Glu40=)" "" "0000555032" "00025358" "10" "180" "0" "180" "0" "c.180C>T" "r.(?)" "p.(Tyr60=)" "" "0000555033" "00025358" "90" "184" "0" "184" "0" "c.184G>C" "r.(?)" "p.(Glu62Gln)" "" "0000555034" "00025358" "10" "240" "21" "240" "21" "c.240+21C>T" "r.(=)" "p.(=)" "" "0000555036" "00025358" "50" "240" "4424" "240" "4424" "c.240+4424A>T" "r.(=)" "p.(=)" "" "0000555037" "00025358" "50" "240" "4449" "240" "4449" "c.240+4449C>T" "r.(=)" "p.(=)" "" "0000555038" "00025358" "30" "240" "4465" "240" "4465" "c.240+4465C>G" "r.(=)" "p.(=)" "" "0000555039" "00025358" "30" "240" "4498" "240" "4498" "c.240+4498G>T" "r.(=)" "p.(=)" "" "0000555040" "00025358" "50" "240" "4498" "240" "4498" "c.240+4498G>T" "r.(=)" "p.(=)" "" "0000555041" "00025358" "50" "240" "4534" "240" "4534" "c.240+4534C>T" "r.(=)" "p.(=)" "" "0000555042" "00025358" "10" "240" "4572" "240" "4572" "c.240+4572T>A" "r.(=)" "p.(=)" "" "0000555043" "00025358" "10" "241" "-88" "241" "-88" "c.241-88G>A" "r.(=)" "p.(=)" "" "0000555044" "00025358" "10" "241" "-52" "241" "-52" "c.241-52T>A" "r.(=)" "p.(=)" "" "0000555047" "00025358" "50" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.(Glu114Gln)" "" "0000555048" "00025358" "10" "374" "65" "374" "65" "c.374+65del" "r.(=)" "p.(=)" "" "0000555049" "00025358" "10" "375" "-75" "375" "-75" "c.375-75A>G" "r.(=)" "p.(=)" "" "0000555052" "00025358" "10" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Ala151=)" "" "0000555053" "00025358" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Tyr162=)" "" "0000555054" "00025358" "10" "492" "213" "492" "213" "c.492+213G>A" "r.(=)" "p.(=)" "" "0000555055" "00025358" "10" "492" "261" "492" "261" "c.492+261G>T" "r.(=)" "p.(=)" "" "0000555057" "00025358" "30" "549" "0" "549" "0" "c.549T>C" "r.(?)" "p.(Ala183=)" "" "0000555059" "00025358" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Gly188Ser)" "" "0000555060" "00025358" "50" "563" "266" "563" "266" "c.563+266C>A" "r.(=)" "p.(=)" "" "0000555062" "00025358" "30" "591" "0" "591" "0" "c.591G>A" "r.(?)" "p.(Leu197=)" "" "0000555064" "00025358" "10" "639" "13" "639" "13" "c.639+13del" "r.(=)" "p.(=)" "" "0000555065" "00025358" "30" "639" "21" "639" "21" "c.639+21G>C" "r.(=)" "p.(=)" "" "0000555067" "00025358" "30" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Asp219=)" "" "0000555070" "00025358" "10" "702" "16" "702" "16" "c.702+16T>C" "r.(=)" "p.(=)" "" "0000555071" "00025358" "10" "702" "134" "702" "134" "c.702+134G>A" "r.(=)" "p.(=)" "" "0000555072" "00025358" "10" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Ala242=)" "" "0000555073" "00025358" "30" "726" "0" "726" "0" "c.726G>A" "r.(?)" "p.(Ala242=)" "" "0000555075" "00025358" "10" "773" "-82" "773" "-82" "c.773-82G>A" "r.(=)" "p.(=)" "" "0000555076" "00025358" "30" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Asp258=)" "" "0000555078" "00025358" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(His276=)" "" "0000555079" "00025358" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000555080" "00025358" "50" "832" "0" "832" "0" "c.832C>G" "r.(?)" "p.(Leu278Val)" "" "0000555081" "00025358" "30" "840" "0" "840" "0" "c.840T>C" "r.(?)" "p.(Asp280=)" "" "0000555082" "00025358" "30" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(Thr282Ser)" "" "0000555083" "00025358" "50" "851" "5" "851" "5" "c.851+5dup" "r.spl?" "p.?" "" "0000555084" "00025358" "50" "851" "24" "851" "24" "c.851+24G>A" "r.(=)" "p.(=)" "" "0000555085" "00025358" "10" "851" "41" "851" "41" "c.851+41A>T" "r.(=)" "p.(=)" "" "0000555086" "00025358" "10" "851" "99" "851" "99" "c.851+99dup" "r.(=)" "p.(=)" "" "0000555088" "00025358" "10" "851" "196" "851" "196" "c.851+196A>G" "r.(=)" "p.(=)" "" "0000555089" "00025358" "10" "851" "233" "851" "233" "c.851+233G>A" "r.(=)" "p.(=)" "" "0000555090" "00025358" "30" "892" "0" "892" "0" "c.*37G>A" "r.(=)" "p.(=)" "" "0000555091" "00025358" "30" "923" "0" "923" "0" "c.*68A>G" "r.(=)" "p.(=)" "" "0000555092" "00025358" "30" "931" "0" "931" "0" "c.*76A>G" "r.(=)" "p.(=)" "" "0000555093" "00025358" "10" "983" "0" "983" "0" "c.*128C>T" "r.(=)" "p.(=)" "" "0000555094" "00025358" "10" "1003" "0" "1003" "0" "c.*148G>T" "r.(=)" "p.(=)" "" "0000555095" "00025358" "50" "5013" "0" "5013" "0" "c.*4158A>G" "r.(=)" "p.(=)" "" "0000555096" "00025358" "10" "6159" "0" "6159" "0" "c.*5304G>A" "r.(=)" "p.(=)" "" "0000555097" "00025358" "30" "6159" "0" "6159" "0" "c.*5304G>A" "r.(=)" "p.(=)" "" "0000555098" "00025358" "50" "6364" "0" "6364" "0" "c.*5509T>C" "r.(=)" "p.(=)" "" "0000555099" "00025358" "50" "6704" "0" "6704" "0" "c.*5849A>G" "r.(=)" "p.(=)" "" "0000615417" "00025358" "50" "43" "0" "43" "0" "c.43A>G" "r.(?)" "p.(Lys15Glu)" "" "0000615418" "00025358" "90" "184" "0" "184" "0" "c.184G>C" "r.(?)" "p.(Glu62Gln)" "" "0000615419" "00025358" "30" "240" "4505" "240" "4506" "c.240+4505_240+4506delinsTT" "r.(=)" "p.(=)" "" "0000615420" "00025358" "30" "240" "4506" "240" "4506" "c.240+4506C>T" "r.(=)" "p.(=)" "" "0000615421" "00025358" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105His)" "" "0000615422" "00025358" "30" "375" "-5" "375" "-5" "c.375-5T>C" "r.spl?" "p.?" "" "0000615423" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "" "0000615424" "00025358" "30" "563" "313" "563" "313" "c.563+313A>G" "r.(=)" "p.(=)" "" "0000615425" "00025358" "30" "851" "99" "851" "99" "c.851+99dup" "r.(=)" "p.(=)" "" "0000615426" "00025358" "30" "4893" "0" "4893" "0" "c.*4038G>A" "r.(=)" "p.(=)" "" "0000615427" "00025358" "30" "6048" "0" "6048" "0" "c.*5193A>G" "r.(=)" "p.(=)" "" "0000615428" "00025358" "50" "6123" "0" "6123" "0" "c.*5268A>G" "r.(=)" "p.(=)" "" "0000623277" "00025358" "50" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Asp28Asn)" "" "0000623278" "00025358" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Ile)" "" "0000623279" "00025358" "30" "892" "0" "892" "0" "c.*37G>A" "r.(=)" "p.(=)" "" "0000623280" "00025358" "30" "4859" "0" "4859" "0" "c.*4004G>A" "r.(=)" "p.(=)" "" "0000649127" "00025358" "50" "240" "1" "240" "1" "c.240+1G>A" "r.spl?" "p.?" "" "0000649128" "00025358" "50" "548" "0" "548" "0" "c.548C>T" "r.(?)" "p.(Ala183Val)" "" "0000649129" "00025358" "50" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Thr201Met)" "" "0000649130" "00025358" "70" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Asp219Asn)" "" "0000657626" "00025358" "90" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Thr201Met)" "" "0000680241" "00025358" "50" "42" "0" "42" "0" "c.42C>G" "r.(?)" "p.(Asp14Glu)" "" "0000680242" "00025358" "10" "115" "-235" "115" "-235" "c.115-235G>C" "r.(=)" "p.(=)" "" "0000680243" "00025358" "50" "240" "4470" "240" "4470" "c.240+4470G>T" "r.(=)" "p.(=)" "" "0000680244" "00025358" "10" "563" "6" "563" "6" "c.563+6C>T" "r.(=)" "p.(=)" "" "0000680245" "00025358" "10" "639" "13" "639" "13" "c.639+13del" "r.(=)" "p.(=)" "" "0000680246" "00025358" "50" "657" "0" "657" "0" "c.657C>A" "r.(?)" "p.(Asp219Glu)" "" "0000680247" "00025358" "30" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Arg244=)" "" "0000680248" "00025358" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Ala269Thr)" "" "0000680249" "00025358" "90" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Met281Thr)" "" "0000680250" "00025358" "30" "4893" "0" "4893" "0" "c.*4038G>A" "r.(=)" "p.(=)" "" "0000691829" "00025358" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Glu272Lys)" "" "0000700590" "00025358" "50" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Asp28His)" "" "0000700591" "00025358" "50" "302" "0" "302" "0" "c.302G>C" "r.(?)" "p.(Arg101Pro)" "" "0000700592" "00025358" "90" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Ile154Thr)" "" "0000700593" "00025358" "50" "475" "0" "475" "0" "c.475G>A" "r.(?)" "p.(Asp159Asn)" "" "0000700594" "00025358" "50" "481" "0" "481" "0" "c.481A>G" "r.(?)" "p.(Lys161Glu)" "" "0000700595" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "" "0000700596" "00025358" "50" "548" "0" "548" "0" "c.548C>T" "r.(?)" "p.(Ala183Val)" "" "0000700597" "00025358" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ser215Leu)" "" "0000700598" "00025358" "50" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Lys226Arg)" "" "0000700599" "00025358" "50" "699" "0" "699" "0" "c.699G>C" "r.(?)" "p.(Lys233Asn)" "" "0000700600" "00025358" "50" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Ala239Thr)" "" "0000700601" "00025358" "70" "746" "0" "746" "0" "c.746T>G" "r.(?)" "p.(Leu249Trp)" "" "0000700602" "00025358" "50" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Asp254Gly)" "" "0000700603" "00025358" "50" "774" "0" "774" "0" "c.774C>G" "r.(?)" "p.(Asp258Glu)" "" "0000700604" "00025358" "50" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Lys266Arg)" "" "0000700605" "00025358" "50" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Ile284Val)" "" "0000700695" "00025358" "70" "337" "0" "337" "0" "c.337C>G" "r.(?)" "p.(Leu113Val)" "" "0000700696" "00025358" "50" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Ala120Val)" "" "0000700697" "00025358" "50" "368" "0" "368" "0" "c.368G>C" "r.(?)" "p.(Ser123Thr)" "" "0000700698" "00025358" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Asp230Asn)" "" "0000700699" "00025358" "50" "695" "0" "695" "0" "c.695T>G" "r.(?)" "p.(Leu232Arg)" "" "0000701460" "00025358" "70" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Glu16Gln)" "" "0000701461" "00025358" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Asp20Asn)" "" "0000701462" "00025358" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Ala22Thr)" "" "0000701463" "00025358" "50" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Asp28Asn)" "" "0000701464" "00025358" "50" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Asp28His)" "" "0000701465" "00025358" "50" "252" "0" "252" "0" "c.252C>G" "r.(?)" "p.(Asp84Glu)" "" "0000701466" "00025358" "50" "305" "0" "305" "0" "c.305C>A" "r.(?)" "p.(Ala102Asp)" "" "0000701467" "00025358" "70" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Glu115Lys)" "" "0000701468" "00025358" "90" "457" "0" "457" "0" "c.457C>G" "r.(?)" "p.(His153Asp)" "" "0000701469" "00025358" "90" "523" "0" "523" "0" "c.523G>A" "r.(?)" "p.(Asp175Asn)" "" "0000701470" "00025358" "50" "548" "0" "548" "0" "c.548C>T" "r.(?)" "p.(Ala183Val)" "" "0000701471" "00025358" "70" "559" "0" "559" "0" "c.559G>C" "r.(?)" "p.(Glu187Gln)" "" "0000701472" "00025358" "70" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Glu192Lys)" "" "0000701473" "00025358" "50" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ser215Leu)" "" "0000701474" "00025358" "70" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Asp219Asn)" "" "0000701475" "00025358" "50" "676" "0" "676" "0" "c.676A>C" "r.(?)" "p.(Lys226Gln)" "" "0000701476" "00025358" "70" "762" "0" "762" "0" "c.762T>G" "r.(?)" "p.(Asp254Glu)" "" "0000701477" "00025358" "70" "790" "0" "790" "0" "c.790A>G" "r.(?)" "p.(Lys264Glu)" "" "0000701478" "00025358" "50" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Ala277Thr)" "" "0000701479" "00025358" "50" "835" "0" "835" "0" "c.835A>C" "r.(?)" "p.(Asn279His)" "" "0000701480" "00025358" "50" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Met281Val)" "" "0000701481" "00025358" "50" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Met281Thr)" "" "0000701482" "00025358" "50" "850" "0" "850" "0" "c.850A>G" "r.(?)" "p.(Ile284Val)" "" "0000701706" "00025358" "50" "2" "0" "2" "0" "c.2del" "r.(?)" "p.0?" "" "0000701707" "00025358" "70" "23" "0" "23" "0" "c.23T>G" "r.(?)" "p.(Met8Arg)" "" "0000701708" "00025358" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "0000701709" "00025358" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Glu33Lys)" "" "0000701710" "00025358" "50" "118" "0" "118" "0" "c.118G>T" "r.(?)" "p.(Glu40*)" "" "0000701711" "00025358" "70" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Ile92Thr)" "" "0000701712" "00025358" "70" "337" "0" "337" "0" "c.337C>G" "r.(?)" "p.(Leu113Val)" "" "0000701713" "00025358" "70" "341" "0" "341" "0" "c.341A>G" "r.(?)" "p.(Glu114Gly)" "" "0000701714" "00025358" "70" "416" "0" "416" "0" "c.416A>T" "r.(?)" "p.(Glu139Val)" "" "0000701715" "00025358" "70" "423" "0" "423" "0" "c.423G>C" "r.(?)" "p.(Met141Ile)" "" "0000701716" "00025358" "70" "632" "0" "632" "0" "c.632C>G" "r.(?)" "p.(Ala211Gly)" "" "0000701717" "00025358" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Asp230Asn)" "" "0000701718" "00025358" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238Trp)" "" "0000701719" "00025358" "70" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ala242Val)" "" "0000701720" "00025358" "50" "734" "0" "734" "0" "c.734C>T" "r.(?)" "p.(Ser245Leu)" "" "0000725233" "00025358" "10" "27" "0" "27" "0" "c.27G>A" "r.(?)" "p.(Gln9=)" "" "0000725234" "00025358" "10" "115" "-191" "115" "-191" "c.115-191C>T" "r.(=)" "p.(=)" "" "0000725235" "00025358" "30" "240" "4465" "240" "4465" "c.240+4465C>G" "r.(=)" "p.(=)" "" "0000725236" "00025358" "50" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Asp157Asn)" "" "0000725237" "00025358" "30" "845" "0" "845" "0" "c.845C>G" "r.(?)" "p.(Thr282Ser)" "" "0000790040" "00025358" "90" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ser215Leu)" "" "0000790044" "00025358" "70" "598" "0" "598" "0" "c.598G>C" "r.(?)" "p.(Val200Leu)" "" "0000790051" "00025358" "70" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Met281Thr)" "" "0000806847" "00025358" "50" "374" "1" "374" "1" "c.374+1G>C" "r.spl?" "p.?" "" "0000806848" "00025358" "30" "474" "0" "474" "0" "c.474C>T" "r.(?)" "p.(Ala158=)" "" "0000806849" "00025358" "30" "923" "0" "923" "0" "c.*68A>G" "r.(=)" "p.(=)" "" "0000806850" "00025358" "10" "6108" "0" "6108" "0" "c.*5253C>T" "r.(=)" "p.(=)" "" "0000823575" "00025358" "70" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Arg133Gln)" "" "0000854115" "00025358" "10" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(Lys7=)" "" "0000854117" "00025358" "30" "115" "-262" "115" "-262" "c.115-262C>T" "r.(=)" "p.(=)" "" "0000854118" "00025358" "50" "115" "-23" "115" "-20" "c.115-23_115-20dup" "r.(=)" "p.(=)" "" "0000854119" "00025358" "50" "226" "0" "226" "0" "c.226A>C" "r.(?)" "p.(Lys76Gln)" "" "0000854120" "00025358" "30" "703" "-8" "703" "-8" "c.703-8C>T" "r.(=)" "p.(=)" "" "0000854121" "00025358" "30" "851" "47" "851" "47" "c.851+47A>C" "r.(=)" "p.(=)" "" "0000854122" "00025358" "30" "923" "0" "923" "0" "c.*68A>G" "r.(=)" "p.(=)" "" "0000854123" "00025358" "30" "931" "0" "931" "0" "c.*76A>G" "r.(=)" "p.(=)" "" "0000863920" "00025358" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Glu33Lys)" "" "0000863921" "00025358" "50" "240" "4465" "240" "4465" "c.240+4465C>G" "r.(=)" "p.(=)" "" "0000878850" "00025358" "90" "433" "0" "433" "0" "c.433G>T" "r.(?)" "p.(Glu145*)" "4" "0000878874" "00025358" "70" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Glu212Gly)" "6" "0000881317" "00025358" "70" "434" "0" "434" "0" "c.434A>G" "r.(?)" "p.(Glu145Gly)" "" "0000892196" "00025358" "50" "82" "0" "82" "0" "c.82G>C" "r.(?)" "p.(Asp28His)" "" "0000892197" "00025358" "10" "115" "-339" "115" "-339" "c.115-339G>A" "r.(=)" "p.(=)" "" "0000892199" "00025358" "70" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Asp84Asn)" "" "0000892200" "00025358" "50" "340" "0" "340" "0" "c.340G>C" "r.(?)" "p.(Glu114Gln)" "" "0000892201" "00025358" "90" "461" "0" "461" "0" "c.461T>C" "r.(?)" "p.(Ile154Thr)" "" "0000892202" "00025358" "30" "563" "16" "563" "16" "c.563+16G>A" "r.(=)" "p.(=)" "" "0000892203" "00025358" "30" "563" "253" "563" "253" "c.563+253T>C" "r.(=)" "p.(=)" "" "0000892204" "00025358" "90" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Glu192Lys)" "" "0000892205" "00025358" "50" "644" "0" "644" "0" "c.644C>A" "r.(?)" "p.(Ser215*)" "" "0000892206" "00025358" "30" "851" "5" "851" "5" "c.851+5dup" "r.spl?" "p.?" "" "0000914338" "00025358" "50" "515" "0" "515" "0" "c.515T>C" "r.(?)" "p.(Ile172Thr)" "" "0000914339" "00025358" "50" "4831" "0" "4831" "0" "c.*3976C>G" "r.(=)" "p.(=)" "" "0000914340" "00025358" "10" "6158" "0" "6159" "0" "c.*5303_*5304insATTTT" "r.(=)" "p.(=)" "" "0000922734" "00025358" "90" "62" "0" "62" "0" "c.62G>T" "r.(?)" "p.(Arg21Leu)" "" "0000926011" "00025358" "10" "585" "0" "585" "0" "c.585A>G" "r.(?)" "p.(Glu195=)" "" "0000926012" "00025358" "10" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(His276=)" "" "0000926013" "00025358" "50" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Ile284Thr)" "" "0000926014" "00025358" "30" "852" "-12" "852" "-12" "c.852-12A>G" "r.(=)" "p.(=)" "" "0000926015" "00025358" "10" "923" "0" "923" "0" "c.*68A>G" "r.(=)" "p.(=)" "" "0000930413" "00025358" "10" "115" "-331" "115" "-331" "c.115-331C>T" "r.(=)" "p.(=)" "" "0000950404" "00025358" "10" "240" "4477" "240" "4477" "c.240+4477G>A" "r.(=)" "p.(=)" "" "0000950405" "00025358" "50" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Ala120Thr)" "" "0000954800" "00025358" "70" "365" "0" "365" "0" "c.365A>G" "r.(?)" "p.(Glu122Gly)" "" "0000957748" "00025358" "50" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ala242Val)" "" "0000957836" "00025358" "70" "240" "4281" "240" "4281" "c.240+4281G>T" "r.(?)" "p.?" "" "0000957881" "00025358" "50" "6048" "0" "6048" "0" "c.*5193A>G" "r.(=)" "p.(=)" "" "0000957884" "00025358" "70" "240" "4499" "240" "4499" "c.240+4499G>C" "r.(?)" "p.?" "" "0000957893" "00025358" "50" "6048" "0" "6048" "0" "c.*5193A>G" "r.(=)" "p.(=)" "" "0000959833" "00025358" "50" "241" "-143" "241" "-143" "c.241-143A>C" "r.(?)" "p.(?)" "" "0000967878" "00025358" "10" "115" "-319" "115" "-319" "c.115-319C>G" "r.(=)" "p.(=)" "" "0000967879" "00025358" "50" "332" "0" "332" "0" "c.332A>C" "r.(?)" "p.(Gln111Pro)" "" "0000967880" "00025358" "10" "684" "0" "684" "0" "c.684T>C" "r.(?)" "p.(=)" "" "0000967881" "00025358" "30" "892" "0" "892" "0" "c.*37G>A" "r.(=)" "p.(=)" "" "0000981329" "00025358" "30" "114" "4" "114" "4" "c.114+4T>G" "r.spl?" "p.?" "" "0000981330" "00025358" "30" "563" "313" "563" "313" "c.563+313A>G" "r.(=)" "p.(=)" "" "0001001561" "00025358" "50" "563" "266" "563" "266" "c.563+266C>T" "r.(=)" "p.(=)" "" "0001001562" "00025358" "50" "563" "312" "563" "312" "c.563+312C>T" "r.(=)" "p.(=)" "" "0001001563" "00025358" "50" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Gln210Arg)" "" "0001001564" "00025358" "30" "772" "94" "772" "96" "c.772+94_772+96del" "r.(=)" "p.(=)" "" "0001001565" "00025358" "30" "4893" "0" "4893" "0" "c.*4038G>A" "r.(=)" "p.(=)" "" "0001001566" "00025358" "50" "6126" "0" "6126" "0" "c.*5271T>G" "r.(=)" "p.(=)" "" "0001026475" "00025358" "50" "46" "0" "46" "0" "c.46G>C" "r.(?)" "p.(Glu16Gln)" "" "0001026476" "00025358" "50" "115" "-288" "115" "-288" "c.115-288C>G" "r.(=)" "p.(=)" "" "0001026477" "00025358" "50" "141" "0" "141" "0" "c.141A>G" "r.(?)" "p.(=)" "" "0001026478" "00025358" "70" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Asp230Asn)" "" "0001026479" "00025358" "50" "773" "-4" "773" "-4" "c.773-4A>G" "r.spl?" "p.?" "" "0001040483" "00025358" "50" "153" "0" "153" "0" "c.153G>C" "r.(?)" "p.(Lys51Asn)" "" "0001040484" "00025358" "50" "240" "4430" "240" "4430" "c.240+4430G>A" "r.(=)" "p.(=)" "" "0001044597" "00025358" "50" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Ser252Asn)" "" "0001046501" "00025358" "70" "644" "0" "644" "0" "c.644C>T" "r.(?)" "p.(Ser215Leu)" "" "0001046886" "00025358" "70" "460" "0" "460" "0" "c.460A>G" "r.(?)" "p.(Ile154Val)" "" "0001046962" "00025358" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Glu62Lys)" "" "0001046981" "00025358" "50" "844" "0" "844" "0" "c.844A>G" "r.(?)" "p.(Thr282Ala)" "" "0001048353" "00025358" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 136 "{{screeningid}}" "{{variantid}}" "0000064215" "0000095235" "0000064293" "0000095526" "0000064338" "0000095673" "0000064352" "0000095723" "0000064422" "0000095814" "0000065301" "0000096977" "0000109172" "0000175264" "0000129242" "0000218387" "0000155816" "0000356897" "0000213070" "0000445532" "0000214492" "0000446786" "0000214493" "0000446787" "0000214494" "0000446788" "0000214495" "0000446789" "0000214496" "0000446790" "0000214497" "0000446791" "0000214498" "0000446792" "0000214499" "0000446793" "0000214500" "0000446794" "0000214501" "0000446795" "0000214502" "0000446796" "0000214503" "0000446797" "0000214504" "0000446798" "0000214505" "0000446799" "0000214506" "0000446800" "0000214507" "0000446801" "0000214508" "0000446802" "0000214509" "0000446803" "0000214510" "0000446804" "0000214511" "0000446805" "0000214512" "0000446806" "0000214513" "0000446807" "0000214514" "0000446808" "0000214515" "0000446809" "0000214516" "0000446810" "0000214517" "0000446811" "0000214518" "0000446812" "0000214519" "0000446813" "0000214520" "0000446814" "0000214521" "0000446815" "0000214522" "0000446816" "0000214523" "0000446817" "0000214524" "0000446818" "0000214525" "0000446819" "0000214526" "0000446820" "0000214527" "0000446821" "0000214528" "0000446822" "0000214529" "0000446823" "0000214530" "0000446824" "0000214531" "0000446825" "0000214532" "0000446826" "0000214533" "0000446827" "0000214534" "0000446828" "0000214535" "0000446829" "0000214536" "0000446830" "0000214537" "0000446831" "0000214538" "0000446832" "0000214539" "0000446833" "0000214540" "0000446834" "0000214541" "0000446835" "0000214542" "0000446836" "0000214543" "0000446837" "0000292438" "0000649127" "0000292439" "0000649128" "0000292440" "0000649129" "0000292441" "0000649130" "0000317984" "0000700590" "0000317985" "0000700591" "0000317986" "0000700592" "0000317987" "0000700593" "0000317988" "0000700594" "0000317989" "0000700595" "0000317990" "0000700596" "0000317991" "0000700597" "0000317992" "0000700598" "0000317993" "0000700599" "0000317994" "0000700600" "0000317995" "0000700601" "0000317996" "0000700602" "0000317997" "0000700603" "0000317998" "0000700604" "0000317999" "0000700605" "0000318089" "0000700695" "0000318090" "0000700696" "0000318091" "0000700697" "0000318092" "0000700698" "0000318093" "0000700699" "0000318854" "0000701460" "0000318855" "0000701461" "0000318856" "0000701462" "0000318857" "0000701463" "0000318858" "0000701464" "0000318859" "0000701465" "0000318860" "0000701466" "0000318861" "0000701467" "0000318862" "0000701468" "0000318863" "0000701469" "0000318864" "0000701470" "0000318865" "0000701471" "0000318866" "0000701472" "0000318867" "0000701473" "0000318868" "0000701474" "0000318869" "0000701475" "0000318870" "0000701476" "0000318871" "0000701477" "0000318872" "0000701478" "0000318873" "0000701479" "0000318874" "0000701480" "0000318875" "0000701481" "0000318876" "0000701482" "0000319100" "0000701706" "0000319101" "0000701707" "0000319102" "0000701708" "0000319103" "0000701709" "0000319104" "0000701710" "0000319105" "0000701711" "0000319106" "0000701712" "0000319107" "0000701713" "0000319108" "0000701714" "0000319109" "0000701715" "0000319110" "0000701716" "0000319111" "0000701717" "0000319112" "0000701718" "0000319113" "0000701719" "0000319114" "0000701720" "0000377635" "0000790040" "0000377639" "0000790044" "0000377646" "0000790051" "0000418935" "0000878850" "0000418958" "0000878874" "0000420958" "0000881317" "0000448341" "0000957748" "0000448381" "0000957881" "0000448384" "0000957884" "0000448429" "0000957836" "0000448450" "0000957893"