### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PABPN1) # 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}}" "PABPN1" "poly(A) binding protein, nuclear 1" "14" "q11.2" "no" "NG_008239.1" "UD_132118488479" "" "https://www.LOVD.nl/PABPN1" "" "1" "8565" "8106" "602279" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/PABPN1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2018-10-25 16:39:33" "00000" "2025-05-05 21:14:00" ## 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}}" "00015582" "PABPN1" "poly(A) binding protein, nuclear 1" "001" "NM_004643.3" "" "NP_004634.1" "" "" "" "-1282" "1820" "921" "23789397" "23795394" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01473" "OPMD" "dystrophy, muscular, oculopharyngeal (OPMD)" "AD" "164300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PABPN1" "01473" ## Individuals ## Do not remove or alter this header ## ## Count = 150 "{{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}}" "00183404" "" "" "" "2" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam01Pat8" "00183405" "" "" "00183404" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam01Pat10" "00183406" "" "" "" "6" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam02Pat3" "00183407" "" "" "00183406" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam02Pat15" "00183408" "" "" "00183406" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam02Pat16" "00183409" "" "" "00183406" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam02Pat23" "00183410" "" "" "00183406" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam02Pat48" "00183411" "" "" "00183406" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam02Pat49" "00183412" "" "" "" "4" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam03Pat12" "00183413" "" "" "00183412" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam03Pat35" "00183414" "" "" "00183412" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam03Pat40" "00183415" "" "" "00183412" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam03Pat45" "00183416" "" "" "" "2" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam04Pat36" "00183417" "" "" "00183416" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam04Pat38" "00183418" "" "" "" "2" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam05Pat42" "00183419" "" "" "00183418" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam05Pat46" "00183420" "" "" "" "2" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam06Pat2" "00183421" "" "" "00183420" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam06Pat13" "00183422" "" "" "" "2" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam07Pat4" "00183423" "" "" "00183422" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam07Pat39" "00183424" "" "" "" "5" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam08Pat5" "00183425" "" "" "00183424" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam08Pat6" "00183426" "" "" "00183424" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam08Pat20" "00183427" "" "" "00183424" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam08Pat21" "00183428" "" "" "00183424" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam08Pat50" "00183429" "" "" "" "5" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam09Pat25" "00183430" "" "" "00183429" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam09Pat30" "00183431" "" "" "00183429" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam09Pat31" "00183432" "" "" "00183429" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam09Pat41" "00183433" "" "" "00183429" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam09Pat47" "00183434" "" "" "" "3" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam10Pat32" "00183435" "" "" "00183434" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam10Pat33" "00183436" "" "" "00183434" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam10Pat37" "00183437" "" "" "" "2" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Fam11Pat18" "00183438" "" "" "00183437" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Fam11Pat24" "00183439" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat1" "00183440" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Pat7" "00183441" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Pat9" "00183442" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Pat11" "00183443" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat14" "00183444" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat17" "00183445" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat19" "00183446" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Pat22" "00183447" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat26" "00183448" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat27" "00183449" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Pat28" "00183450" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat29" "00183451" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat34" "00183452" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "M" "" "Netherlands" "" "0" "yes" "" "" "Pat43" "00183453" "" "" "" "1" "" "02594" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "F" "" "Netherlands" "" "0" "yes" "" "" "Pat44" "00183461" "" "" "" "2" "" "00006" "{PMID:Brais 1998:9462747}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "" "00183462" "" "" "" "1" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183463" "" "" "" "1" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183464" "" "" "" "1" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183465" "" "" "" "1" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183466" "" "" "" "5" "" "00006" "{PMID:Robinson 2006:16648376}" "3-generation family, 5 affecteds" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe NW" "" "00183467" "" "" "" "20" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183468" "" "" "" "6" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183469" "" "" "" "4" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183470" "" "" "" "18" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183471" "" "" "" "6" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183472" "" "" "" "7" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183473" "" "" "" "5" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183474" "" "" "" "4" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183475" "" "" "" "1" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183476" "" "" "" "4" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183477" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "family" "M" "" "Canada" "" "0" "" "" "French" "" "00183478" "" "" "" "271" "" "00006" "{PMID:Brais 1998:9462747}" "70 families" "" "" "Canada" "" "0" "" "" "French" "" "00183479" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "family, brother of 09462747-FamF151s" "M" "" "Canada" "" "0" "" "" "French" "" "00183480" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "family, sister of 09462747-FamF151b" "F" "" "Canada" "" "0" "" "" "French" "" "00183481" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "" "F" "" "Canada" "" "0" "" "" "French" "" "00183482" "" "" "" "7" "" "00006" "{PMID:Scacheri 1999:10508991}" "4-generation family, 7 affecteds" "" "" "United States" "" "0" "" "" "Cajun" "" "00183483" "" "" "" "1" "" "00006" "{PMID:Robinson 2005:15645184}" "family history OPMD, no surviving relatives" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183484" "" "" "" "1" "" "00006" "{PMID:Robinson 2005:15645184}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00183485" "" "" "" "8" "" "00006" "{PMID:Scacheri 1999:10508991}" "4-generation family, 8 affecteds" "" "" "United States" "" "0" "" "" "Cajun" "" "00183486" "" "" "" "4" "" "00006" "{PMID:Scacheri 1999:10508991}" "3-generation family, 4 affecteds" "" "" "United States" "" "0" "" "" "Cajun" "" "00183487" "" "" "" "1" "" "00006" "{PMID:Scacheri 1999:10508991}" "" "" "" "Italy" "" "0" "" "" "" "" "00183488" "" "" "" "7" "" "00006" "{PMID:Schober 2001:11304042}" "5-generation family, 7 affecteds" "" "" "Germany" "" "0" "" "" "" "" "00183489" "" "" "" "1" "" "00006" "{PMID:Nakamoto 2002:11890856}" "" "" "" "Japan" "" "0" "" "" "" "" "00183490" "" "" "" "2" "" "00006" "{PMID:Nakamoto 2002:11890856}" "patient and affected sister" "" "" "Japan" "" "0" "" "" "" "" "00183491" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183492" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183493" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00183494" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00183495" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183496" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183497" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183498" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00183499" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183500" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183501" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00183502" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183503" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183504" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183505" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00183506" "" "" "" "1" "" "00006" "{PMID:van der Sluijs 2003:12673802}" "" "F" "" "Netherlands" "" "0" "" "" "" "" "00183507" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "father of 09462747-FamB.II1" "M" "" "Canada" "" "0" "" "" "French" "" "00183508" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "mother of 09462747-FamB.II1" "F" "" "Canada" "" "0" "" "" "French" "" "00183509" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "" "F" "" "Canada" "" "0" "" "" "French" "" "00183510" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "father of 09462747-PatIX" "M" "" "Canada" "" "0" "" "" "French" "" "00183511" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "mother of 09462747-PatIX" "F" "" "Canada" "" "0" "" "" "French" "" "00183512" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "brother of 09462747-FamDPatV" "M" "" "Canada" "" "0" "" "" "French" "" "00183513" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "brother of 09462747-FamDPatVIII" "M" "" "Canada" "" "0" "" "" "French" "" "00183514" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "father of 09462747-FamPatII" "M" "" "Canada" "" "0" "" "" "French" "" "00183515" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "mother of 09462747-FamPatII" "F" "" "Canada" "" "0" "" "" "French" "" "00183516" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "" "?" "" "Canada" "" "0" "" "" "French" "" "00183517" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "father of 09462747-FamB.II1" "M" "" "Canada" "" "0" "" "" "French" "" "00183518" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "mother of 09462747-FamB.II1" "F" "" "Canada" "" "0" "" "" "French" "" "00183519" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "" "?" "" "Canada" "" "0" "" "" "French" "" "00183520" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "" "?" "" "Canada" "" "0" "" "" "French" "" "00183521" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "" "?" "" "Canada" "" "0" "" "" "French" "" "00183522" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "" "?" "" "Canada" "" "0" "" "" "French" "" "00183523" "" "" "" "4" "" "00006" "{PMID:Brais 1998:9462747}" "4 families / 1 country" "" "" "" "" "0" "" "" "" "" "00183524" "" "" "" "29" "" "00006" "{PMID:Brais 1998:9462747}" "29 families / 5 countries" "" "" "" "" "0" "" "" "" "" "00183525" "" "" "" "19" "" "00006" "{PMID:Brais 1998:9462747}" "19 families 8 countries" "" "" "" "" "0" "" "" "" "" "00183526" "" "" "" "16" "" "00006" "{PMID:Brais 1998:9462747}" "16 families / 6 countries" "" "" "" "" "0" "" "" "" "" "00183527" "" "" "" "5" "" "00006" "{PMID:Brais 1998:9462747}" "5 families / 3 countries" "" "" "" "" "0" "" "" "" "" "00183528" "" "" "" "1" "" "00006" "{PMID:Brais 1998:9462747}" "1 family / 1 countries" "" "" "" "" "0" "" "" "" "" "00384636" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "?" "no" "Israel" "" "0" "" "" "" "Family 14 patient 1" "00384637" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "?" "no" "Israel" "" "0" "" "" "" "Family 15 patient 1" "00410026" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family D (BJ) brother of 4 and 5" "M" "yes" "" "56y" "0" "" "" "" "D3" "00410027" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family D (BJ) sister of 5 and 3" "F" "yes" "" "51y" "0" "" "" "" "D4" "00410028" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family D (BJ) brother of 4 and 3" "M" "yes" "" "50y" "0" "" "" "" "D5" "00410029" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family D (BJ) father of 3, 4, 5" "M" "yes" "" "72y" "0" "" "" "" "D1" "00410030" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family D (BJ) mother of 3, 4, 5" "F" "yes" "" "89y" "0" "" "" "" "D2" "00410031" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family D (BJ) son of 5" "M" "" "" "" "0" "" "" "" "A2" "00410032" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family A, mother of 2 and 3" "F" "" "" "" "0" "" "" "" "A1" "00410033" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family A, daughter1 of 1" "F" "" "" "" "0" "" "" "" "A2" "00410034" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family A, daughter2 of 1" "F" "" "" "" "0" "" "" "" "A3" "00410035" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family B" "F" "" "" "" "0" "" "" "" "B" "00410036" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family C" "M" "" "" "" "0" "" "" "" "C" "00410037" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family E" "F" "" "" "" "0" "" "" "" "E" "00410038" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family F" "F" "" "" "" "0" "" "" "" "F" "00410039" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family G" "M" "" "" "" "0" "" "" "" "G" "00410040" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family H" "M" "" "" "" "0" "" "" "" "H" "00410041" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family I" "F" "" "" "" "0" "" "" "" "I" "00410042" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family J" "F" "" "" "" "0" "" "" "" "J" "00410043" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family K" "F" "" "" "" "0" "" "" "" "K" "00410044" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family L" "F" "" "" "" "0" "" "" "" "L" "00410045" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family M" "F" "" "" "" "0" "" "" "" "M" "00410046" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family N" "F" "" "" "" "0" "" "" "" "N" "00410047" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family O" "F" "" "" "" "0" "" "" "" "O" "00410048" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family P" "F" "" "" "" "0" "" "" "" "P" "00410049" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family Q" "F" "" "" "" "0" "" "" "" "Q" "00410050" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family R" "M" "" "" "" "0" "" "" "" "R" "00410051" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family S" "M" "" "" "" "0" "" "" "" "S" "00410052" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family T" "F" "" "" "" "0" "" "" "" "T" "00410053" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family U" "M" "" "" "" "0" "" "" "" "U" "00410054" "" "" "" "1" "" "00000" "{PMID:Braverman 2017:28590779}" "family V" "M" "" "" "" "0" "" "" "" "V" "00453583" "" "" "" "1" "" "00454" "" "Patient has an initial diagnoses of LOPD" "F" "" "Argentina" "" "" "" "" "" "#33DM" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 150 "{{individualid}}" "{{diseaseid}}" "00183404" "01473" "00183405" "01473" "00183406" "01473" "00183407" "01473" "00183408" "01473" "00183409" "01473" "00183410" "01473" "00183411" "01473" "00183412" "01473" "00183413" "01473" "00183414" "01473" "00183415" "01473" "00183416" "01473" "00183417" "01473" "00183418" "01473" "00183419" "01473" "00183420" "01473" "00183421" "01473" "00183422" "01473" "00183423" "01473" "00183424" "01473" "00183425" "01473" "00183426" "01473" "00183427" "01473" "00183428" "01473" "00183429" "01473" "00183430" "01473" "00183431" "01473" "00183432" "01473" "00183433" "01473" "00183434" "01473" "00183435" "01473" "00183436" "01473" "00183437" "01473" "00183438" "01473" "00183439" "01473" "00183440" "01473" "00183441" "01473" "00183442" "01473" "00183443" "01473" "00183444" "01473" "00183445" "01473" "00183446" "01473" "00183447" "01473" "00183448" "01473" "00183449" "01473" "00183450" "01473" "00183451" "01473" "00183452" "01473" "00183453" "01473" "00183461" "00000" "00183462" "01473" "00183463" "01473" "00183464" "01473" "00183465" "01473" "00183466" "01473" "00183467" "01473" "00183468" "01473" "00183469" "01473" "00183470" "01473" "00183471" "01473" "00183472" "01473" "00183473" "01473" "00183474" "01473" "00183475" "01473" "00183476" "01473" "00183477" "01473" "00183478" "01473" "00183479" "01473" "00183480" "01473" "00183481" "01473" "00183482" "01473" "00183483" "01473" "00183484" "01473" "00183485" "01473" "00183486" "01473" "00183487" "01473" "00183488" "01473" "00183489" "01473" "00183490" "01473" "00183491" "01473" "00183492" "01473" "00183493" "01473" "00183494" "01473" "00183495" "01473" "00183496" "01473" "00183497" "01473" "00183498" "01473" "00183499" "01473" "00183500" "01473" "00183501" "01473" "00183502" "01473" "00183503" "01473" "00183504" "01473" "00183505" "01473" "00183506" "01473" "00183507" "01473" "00183508" "01473" "00183509" "01473" "00183510" "00000" "00183511" "00000" "00183512" "01473" "00183513" "01473" "00183514" "01473" "00183515" "01473" "00183516" "01473" "00183517" "01473" "00183518" "01473" "00183519" "01473" "00183520" "01473" "00183521" "01473" "00183522" "01473" "00183523" "01473" "00183524" "01473" "00183525" "01473" "00183526" "01473" "00183527" "01473" "00183528" "01473" "00384636" "00198" "00384637" "00198" "00410026" "04214" "00410027" "04214" "00410028" "04214" "00410029" "01473" "00410030" "01473" "00410031" "01473" "00410032" "04214" "00410033" "01473" "00410034" "01473" "00410035" "04214" "00410036" "01473" "00410037" "01473" "00410038" "01473" "00410039" "01473" "00410040" "01473" "00410041" "01473" "00410042" "01473" "00410043" "01473" "00410044" "01473" "00410045" "01473" "00410046" "01473" "00410047" "01473" "00410048" "01473" "00410049" "01473" "00410050" "01473" "00410051" "01473" "00410052" "01473" "00410053" "01473" "00410054" "01473" "00453583" "01473" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01473, 04214 ## Count = 150 "{{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}}" "0000144116" "01473" "00183404" "02594" "Familial, autosomal dominant" "50y" "asymptomatic (no muscles affected)" "" "" "unknown" "" "" "" "" "" "" "" "" "0000144117" "01473" "00183405" "02594" "Familial, autosomal dominant" "54y" "asymptomatic (no muscles affected)" "" "" "unknown" "" "" "" "" "" "" "" "" "0000144118" "01473" "00183406" "02594" "Familial, autosomal dominant" "63y" "mild (one muscle affected); diagnosis duration 5y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144119" "01473" "00183407" "02594" "Familial, autosomal dominant" "61y" "mild (one muscle affected); diagnosis duration 6y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144120" "01473" "00183408" "02594" "Familial, autosomal dominant" "54y" "mild (one muscle affected); diagnosis duration 3y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144121" "01473" "00183409" "02594" "Familial, autosomal dominant" "59y" "mild (one muscle affected); diagnosis duration 7y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144122" "01473" "00183410" "02594" "Familial, autosomal dominant" "57y" "asymptomatic (no muscles affected)" "" "" "unknown" "" "" "" "" "" "" "" "" "0000144123" "01473" "00183411" "02594" "Familial, autosomal dominant" "66y" "asymptomatic (no muscles affected)" "" "" "unknown" "" "" "" "" "" "" "" "" "0000144124" "01473" "00183412" "02594" "Familial, autosomal dominant" "57y" "mild (one muscle affected); diagnosis duration 7y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144125" "01473" "00183413" "02594" "Familial, autosomal dominant" "60y" "mild (one muscle affected); diagnosis duration 20y" "" "" "unknown" "" "" "" "" "" "OPMD" "" "" "0000144126" "01473" "00183414" "02594" "Familial, autosomal dominant" "55y" "mild (one muscle affected); diagnosis duration 55y" "" "" "unknown" "" "" "" "" "" "OPMD" "" "" "0000144127" "01473" "00183415" "02594" "Familial, autosomal dominant" "64y" "mild (one muscle affected); diagnosis duration 5y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144128" "01473" "00183416" "02594" "Familial, autosomal dominant" "55y" "mild (one muscle affected); diagnosis duration 10y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144129" "01473" "00183417" "02594" "Familial, autosomal dominant" "51y" "mild (one muscle affected); diagnosis duration 8y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144130" "01473" "00183418" "02594" "Familial, autosomal dominant" "59y" "mild (one muscle affected); diagnosis duration 9y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144131" "01473" "00183419" "02594" "Familial, autosomal dominant" "64y" "mild (one muscle affected); diagnosis duration 24y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144132" "01473" "00183420" "02594" "Familial, autosomal dominant" "50y" "severe (two or more muscles affected); diagnosis duration 13y" "" "" "unknown" "" "" "" "" "" "OPMD" "" "" "0000144133" "01473" "00183421" "02594" "Familial, autosomal dominant" "55y" "mild (one muscle affected); diagnosis duration 7y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144134" "01473" "00183422" "02594" "Familial, autosomal dominant" "58y" "mild (one muscle affected); diagnosis duration 13y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144135" "01473" "00183423" "02594" "Familial, autosomal dominant" "53y" "mild (one muscle affected); diagnosis duration 4y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144136" "01473" "00183424" "02594" "Familial, autosomal dominant" "75y" "severe (two or more muscles affected); diagnosis duration 15y" "" "" "leg weakness" "" "" "" "" "" "OPMD" "" "" "0000144137" "01473" "00183425" "02594" "Familial, autosomal dominant" "50y" "mild (one muscle affected); diagnosis duration 1y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144138" "01473" "00183426" "02594" "Familial, autosomal dominant" "63y" "mild (one muscle affected); diagnosis duration 3y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144139" "01473" "00183427" "02594" "Familial, autosomal dominant" "63y" "mild (one muscle affected); diagnosis duration 4y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144140" "01473" "00183428" "02594" "Familial, autosomal dominant" "49y" "asymptomatic (no muscles affected); diagnosis duration 49y" "" "" "unknown" "" "" "" "" "" "" "" "" "0000144141" "01473" "00183429" "02594" "Familial, autosomal dominant" "55y" "mild (one muscle affected); diagnosis duration 7y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144142" "01473" "00183430" "02594" "Familial, autosomal dominant" "79y" "severe (two or more muscles affected); diagnosis duration 42y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144143" "01473" "00183431" "02594" "Familial, autosomal dominant" "53y" "mild (one muscle affected); diagnosis duration 6y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144144" "01473" "00183432" "02594" "Familial, autosomal dominant" "52y" "severe (two or more muscles affected); diagnosis duration 8y" "" "" "leg weakness" "" "" "" "" "" "OPMD" "" "" "0000144145" "01473" "00183433" "02594" "Familial, autosomal dominant" "62y" "mild (one muscle affected); diagnosis duration 7y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144146" "01473" "00183434" "02594" "Familial, autosomal dominant" "44y" "mild (one muscle affected); diagnosis duration 2y" "" "" "leg weakness" "" "" "" "" "" "OPMD" "" "" "0000144147" "01473" "00183435" "02594" "Familial, autosomal dominant" "73y" "severe (two or more muscles affected); diagnosis duration 23y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144148" "01473" "00183436" "02594" "Familial, autosomal dominant" "64y" "mild (one muscle affected); diagnosis duration 16y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144149" "01473" "00183437" "02594" "Familial, autosomal dominant" "75y" "mild (one muscle affected); diagnosis duration 25y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144150" "01473" "00183438" "02594" "Familial, autosomal dominant" "74y" "severe (two or more muscles affected); diagnosis duration 7y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144151" "01473" "00183439" "02594" "Unknown" "68y" "severe (two or more muscles affected); diagnosis duration 28y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144152" "01473" "00183440" "02594" "Unknown" "62y" "mild (one muscle affected); diagnosis duration 8y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144153" "01473" "00183441" "02594" "Unknown" "51y" "mild (one muscle affected); diagnosis duration 4y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144154" "01473" "00183442" "02594" "Unknown" "54y" "mild (one muscle affected); diagnosis duration 5y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144155" "01473" "00183443" "02594" "Unknown" "49y" "mild (one muscle affected); diagnosis duration 5y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144156" "01473" "00183444" "02594" "Unknown" "73y" "severe (two or more muscles affected); diagnosis duration 20y" "" "" "leg weakness" "" "" "" "" "" "OPMD" "" "" "0000144157" "01473" "00183445" "02594" "Unknown" "63y" "mild (one muscle affected); diagnosis duration 7y" "" "" "leg weakness" "" "" "" "" "" "OPMD" "" "" "0000144158" "01473" "00183446" "02594" "Unknown" "77y" "mild (one muscle affected); diagnosis duration 4y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144159" "01473" "00183447" "02594" "Unknown" "59y" "mild (one muscle affected); diagnosis duration 59y" "" "" "unknown" "" "" "" "" "" "OPMD" "" "" "0000144160" "01473" "00183448" "02594" "Unknown" "62y" "mild (one muscle affected); diagnosis duration 7y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144161" "01473" "00183449" "02594" "Unknown" "77y" "mild (one muscle affected); diagnosis duration 29y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144162" "01473" "00183450" "02594" "Unknown" "59y" "mild (one muscle affected); diagnosis duration 11y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144163" "01473" "00183451" "02594" "Unknown" "62y" "mild (one muscle affected); diagnosis duration 8y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144164" "01473" "00183452" "02594" "Unknown" "67y" "mild (one muscle affected); diagnosis duration 17y" "" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144165" "01473" "00183453" "02594" "Unknown" "67y" "severe (two or more muscles affected); diagnosis duration 20y" "" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144166" "00000" "00183461" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144167" "01473" "00183462" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144168" "01473" "00183463" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144169" "01473" "00183464" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144170" "01473" "00183465" "00006" "Unknown" "" "progressive ptosis, no histological evidence rimmed vacuoles/inclusion bodies" "" "" "" "" "" "" "" "" "" "OPMD?" "" "0000144171" "01473" "00183466" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144172" "01473" "00183467" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144173" "01473" "00183468" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144174" "01473" "00183469" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144175" "01473" "00183470" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144176" "01473" "00183471" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144177" "01473" "00183472" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144178" "01473" "00183473" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144179" "01473" "00183474" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144180" "01473" "00183475" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144181" "01473" "00183476" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144182" "01473" "00183477" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144183" "01473" "00183478" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144184" "01473" "00183479" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144185" "01473" "00183480" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144186" "01473" "00183481" "00006" "Isolated (sporadic)" "" "late onset, progressive (biopsy proven" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144187" "01473" "00183482" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144188" "01473" "00183483" "00006" "Unknown" "" "asymptomatic" "" "" "" "" "" "" "" "" "" "OPMD?" "" "0000144189" "01473" "00183484" "00006" "Unknown" "" "tongue weakness, speech problems" "" "" "" "" "" "" "" "" "" "OPMD?" "" "0000144190" "01473" "00183485" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144191" "01473" "00183486" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144192" "01473" "00183487" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144193" "01473" "00183488" "00006" "Unknown" "" "neuromuscular disorder" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144194" "01473" "00183489" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144195" "01473" "00183490" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144196" "01473" "00183491" "00006" "Unknown" "" "" "59y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144197" "01473" "00183492" "00006" "Unknown" "" "" "63y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144198" "01473" "00183493" "00006" "Unknown" "" "" "48y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144199" "01473" "00183494" "00006" "Unknown" "" "" "53y" "" "limb girdle weakness" "" "" "" "" "" "OPMD" "" "" "0000144200" "01473" "00183495" "00006" "Unknown" "" "" "53y" "" "limb girdle weakness" "" "" "" "" "" "OPMD" "" "" "0000144201" "01473" "00183496" "00006" "Unknown" "" "" "58y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144202" "01473" "00183497" "00006" "Unknown" "" "" "61y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144203" "01473" "00183498" "00006" "Unknown" "" "" "64y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144204" "01473" "00183499" "00006" "Unknown" "" "" "66y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144205" "01473" "00183500" "00006" "Unknown" "" "" "66y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144206" "01473" "00183501" "00006" "Unknown" "" "" "46y" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144207" "01473" "00183502" "00006" "Unknown" "" "" "53y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144208" "01473" "00183503" "00006" "Unknown" "" "" "55y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144209" "01473" "00183504" "00006" "Unknown" "" "" "64y" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144210" "01473" "00183505" "00006" "Unknown" "" "" "79y" "" "dysphagia (HP:0002015)" "" "" "" "" "" "OPMD" "" "" "0000144211" "01473" "00183506" "00006" "Unknown" "" "" "71y" "" "ptosis (HP:0000508)" "" "" "" "" "" "OPMD" "" "" "0000144212" "01473" "00183507" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144213" "01473" "00183508" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144214" "01473" "00183509" "00006" "Familial, autosomal dominant" "" "early onset" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144215" "00000" "00183510" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144216" "00000" "00183511" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000144217" "01473" "00183512" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144218" "01473" "00183513" "00006" "Familial, autosomal dominant" "" "more sever phenotype" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144219" "01473" "00183514" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144220" "01473" "00183515" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144221" "01473" "00183516" "00006" "Familial, autosomal dominant" "" "early onset" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144222" "01473" "00183517" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144223" "01473" "00183518" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144224" "01473" "00183519" "00006" "Familial, autosomal dominant" "" "early onset" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144225" "01473" "00183520" "00006" "Familial, autosomal dominant" "" "severe phenotype" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144226" "01473" "00183521" "00006" "Familial, autosomal dominant" "" "severe phenotype" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144227" "01473" "00183522" "00006" "Familial, autosomal dominant" "" "severe phenotype" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144228" "01473" "00183523" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144229" "01473" "00183524" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144230" "01473" "00183525" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144231" "01473" "00183526" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144232" "01473" "00183527" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000144233" "01473" "00183528" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "OPMD" "" "" "0000278426" "00198" "00384636" "00000" "Unknown" "" "enhanced S-cone syndrome (AR) and Early onset oculopharyngeal muscular dystrophy (AD)" "" "" "" "" "" "" "" "" "Mixed" "Enhanced S-cone syndrome and early onset oculopharyngeal muscular dystrophy" "" "0000278427" "00198" "00384637" "00000" "Familial, autosomal recessive" "" "enhanced S-cone syndrome (AR) and Early onset oculopharyngeal muscular dystrophy (AD)" "" "" "" "" "" "" "" "" "Mixed" "Enhanced S-cone syndrome and early onset oculopharyngeal muscular dystrophy" "" "0000302135" "04214" "00410026" "00000" "Unknown" "" "retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset" "" "" "" "" "" "" "" "" "retinal dystrophy and oculopharyngeal muscular dystrophy" "" "" "0000302136" "04214" "00410027" "00000" "Unknown" "" "retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset" "" "" "" "" "" "" "" "" "retinal dystrophy and oculopharyngeal muscular dystrophy" "" "" "0000302137" "04214" "00410028" "00000" "Unknown" "" "retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset" "" "" "" "" "" "" "" "" "retinal dystrophy and oculopharyngeal muscular dystrophy" "" "" "0000302138" "01473" "00410029" "00000" "Familial, autosomal dominant" "" "clinically definite oculopharyngeal muscular dystrophy, late onset" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302139" "01473" "00410030" "00000" "Familial, autosomal dominant" "" "oculopharyngeal muscular dystrophy, late onset" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302140" "01473" "00410031" "00000" "Familial, autosomal dominant" "39y" "no retinal dystrophy, OPMD - currently asymptomatic" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302141" "04214" "00410032" "00000" "Unknown" "51y" "retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset" "" "" "" "" "" "" "" "" "retinal dystrophy and oculopharyngeal muscular dystrophy" "" "" "0000302142" "01473" "00410033" "00000" "Familial, autosomal dominant" "27y" "no retinal dystrophy, OPMD - currently asymptomatic" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302143" "01473" "00410034" "00000" "Familial, autosomal dominant" "18y" "no retinal dystrophy, OPMD - currently asymptomatic" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302144" "04214" "00410035" "00000" "Unknown" "35y" "oculopharyngeal muscular dystrophy, early onset" "" "" "" "" "" "" "" "" "retinal dystrophy and oculopharyngeal muscular dystrophy" "" "" "0000302145" "01473" "00410036" "00000" "Familial, autosomal dominant" "66y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302146" "01473" "00410037" "00000" "Familial, autosomal dominant" "54y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302147" "01473" "00410038" "00000" "Familial, autosomal dominant" "66y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302148" "01473" "00410039" "00000" "Familial, autosomal dominant" "72y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302149" "01473" "00410040" "00000" "Familial, autosomal dominant" "74y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302150" "01473" "00410041" "00000" "Familial, autosomal dominant" "62y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302151" "01473" "00410042" "00000" "Familial, autosomal dominant" "52y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302152" "01473" "00410043" "00000" "Familial, autosomal dominant" "66y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302153" "01473" "00410044" "00000" "Familial, autosomal dominant" "80y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302154" "01473" "00410045" "00000" "Familial, autosomal dominant" "62y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302155" "01473" "00410046" "00000" "Familial, autosomal dominant" "64y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302156" "01473" "00410047" "00000" "Familial, autosomal dominant" "47y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302157" "01473" "00410048" "00000" "Familial, autosomal dominant" "57y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302158" "01473" "00410049" "00000" "Familial, autosomal dominant" "47y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302159" "01473" "00410050" "00000" "Familial, autosomal dominant" "83y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302160" "01473" "00410051" "00000" "Familial, autosomal dominant" "73y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302161" "01473" "00410052" "00000" "Familial, autosomal dominant" "68y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302162" "01473" "00410053" "00000" "Familial, autosomal dominant" "60y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000302163" "01473" "00410054" "00000" "Familial, autosomal dominant" "58y" "clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy" "" "" "" "" "" "" "" "" "oculopharyngeal muscular dystrophy" "" "" "0000342240" "01473" "00453583" "00454" "Familial, autosomal dominant" "" "HP:0001324, HP:0009073, HP:0008994, HP:0000508, HP:0002015" "35y" "71y" "HP:0008994" "" "" "" "" "" "OPMD" "LOPD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 150 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184372" "00183404" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184373" "00183405" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184374" "00183406" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184375" "00183407" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184376" "00183408" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184377" "00183409" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184378" "00183410" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184379" "00183411" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184380" "00183412" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184381" "00183413" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184382" "00183414" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184383" "00183415" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184384" "00183416" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184385" "00183417" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184386" "00183418" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184387" "00183419" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184388" "00183420" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184389" "00183421" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184390" "00183422" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184391" "00183423" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184392" "00183424" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184393" "00183425" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184394" "00183426" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184395" "00183427" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184396" "00183428" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184397" "00183429" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184398" "00183430" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184399" "00183431" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184400" "00183432" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184401" "00183433" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184402" "00183434" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184403" "00183435" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184404" "00183436" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184405" "00183437" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184406" "00183438" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184407" "00183439" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184408" "00183440" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184409" "00183441" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184410" "00183442" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184411" "00183443" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184412" "00183444" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184413" "00183445" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184414" "00183446" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184415" "00183447" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184416" "00183448" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184417" "00183449" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184418" "00183450" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184419" "00183451" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184420" "00183452" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184421" "00183453" "1" "02594" "00006" "2018-10-16 18:15:12" "" "" "PCR;SEQ-NG" "DNA" "saliva" "PABPN1 PCR" "0000184429" "00183461" "1" "00006" "00006" "2011-01-11 23:10:36" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184430" "00183462" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184431" "00183463" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184432" "00183464" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184433" "00183465" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184434" "00183466" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184435" "00183467" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184436" "00183468" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184437" "00183469" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184438" "00183470" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184439" "00183471" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184440" "00183472" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184441" "00183473" "1" "00006" "00006" "2011-01-16 11:38:08" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184442" "00183474" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184443" "00183475" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184444" "00183476" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184445" "00183477" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184446" "00183478" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184447" "00183479" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184448" "00183480" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184449" "00183481" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 18:27:00" "PCR;SEQ" "DNA" "" "" "0000184450" "00183482" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184451" "00183483" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184452" "00183484" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2017-03-31 14:13:45" "PCR;SEQ" "DNA" "" "" "0000184453" "00183485" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184454" "00183486" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184455" "00183487" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184456" "00183488" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184457" "00183489" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184458" "00183490" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184459" "00183491" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184460" "00183492" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184461" "00183493" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184462" "00183494" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184463" "00183495" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184464" "00183496" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184465" "00183497" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184466" "00183498" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184467" "00183499" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184468" "00183500" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184469" "00183501" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184470" "00183502" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184471" "00183503" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184472" "00183504" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184473" "00183505" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184474" "00183506" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184475" "00183507" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184476" "00183508" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184477" "00183509" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 20:07:18" "PCR;SEQ" "DNA" "" "" "0000184478" "00183510" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184479" "00183511" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2013-02-01 19:44:12" "PCR;SEQ" "DNA" "" "" "0000184480" "00183512" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184481" "00183513" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 20:07:18" "PCR;SEQ" "DNA" "" "" "0000184482" "00183514" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184483" "00183515" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184484" "00183516" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 20:07:18" "PCR;SEQ" "DNA" "" "" "0000184485" "00183517" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184486" "00183518" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184487" "00183519" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 20:07:18" "PCR;SEQ" "DNA" "" "" "0000184488" "00183520" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 20:07:18" "PCR;SEQ" "DNA" "" "" "0000184489" "00183521" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 20:07:18" "PCR;SEQ" "DNA" "" "" "0000184490" "00183522" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-09 20:07:18" "PCR;SEQ" "DNA" "" "" "0000184491" "00183523" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184492" "00183524" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184493" "00183525" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184494" "00183526" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184495" "00183527" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000184496" "00183528" "1" "00006" "00006" "2011-01-16 11:38:09" "00006" "2012-03-04 15:57:48" "PCR;SEQ" "DNA" "" "" "0000385864" "00384636" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000385865" "00384637" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000411288" "00410026" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411289" "00410027" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411290" "00410028" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411291" "00410029" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411292" "00410030" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411293" "00410031" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411294" "00410032" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411295" "00410033" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411296" "00410034" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411297" "00410035" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411298" "00410036" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411299" "00410037" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411300" "00410038" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411301" "00410039" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411302" "00410040" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411303" "00410041" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411304" "00410042" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411305" "00410043" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411306" "00410044" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411307" "00410045" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411308" "00410046" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411309" "00410047" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411310" "00410048" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411311" "00410049" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411312" "00410050" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411313" "00410051" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411314" "00410052" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411315" "00410053" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000411316" "00410054" "1" "00000" "03840" "2022-05-18 12:34:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000455196" "00453583" "1" "00454" "00454" "2024-09-10 21:07:08" "" "" "SEQ-NG-I" "DNA" "blood" "WES, insilico gen panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 151 "{{screeningid}}" "{{geneid}}" "0000184372" "PABPN1" "0000184373" "PABPN1" "0000184374" "PABPN1" "0000184375" "PABPN1" "0000184376" "PABPN1" "0000184377" "PABPN1" "0000184378" "PABPN1" "0000184379" "PABPN1" "0000184380" "PABPN1" "0000184381" "PABPN1" "0000184382" "PABPN1" "0000184383" "PABPN1" "0000184384" "PABPN1" "0000184385" "PABPN1" "0000184386" "PABPN1" "0000184387" "PABPN1" "0000184388" "PABPN1" "0000184389" "PABPN1" "0000184390" "PABPN1" "0000184391" "PABPN1" "0000184392" "PABPN1" "0000184393" "PABPN1" "0000184394" "PABPN1" "0000184395" "PABPN1" "0000184396" "PABPN1" "0000184397" "PABPN1" "0000184398" "PABPN1" "0000184399" "PABPN1" "0000184400" "PABPN1" "0000184401" "PABPN1" "0000184402" "PABPN1" "0000184403" "PABPN1" "0000184404" "PABPN1" "0000184405" "PABPN1" "0000184406" "PABPN1" "0000184407" "PABPN1" "0000184408" "PABPN1" "0000184409" "PABPN1" "0000184410" "PABPN1" "0000184411" "PABPN1" "0000184412" "PABPN1" "0000184413" "PABPN1" "0000184414" "PABPN1" "0000184415" "PABPN1" "0000184416" "PABPN1" "0000184417" "PABPN1" "0000184418" "PABPN1" "0000184419" "PABPN1" "0000184420" "PABPN1" "0000184421" "PABPN1" "0000184429" "PABPN1" "0000184430" "PABPN1" "0000184431" "PABPN1" "0000184432" "PABPN1" "0000184433" "PABPN1" "0000184434" "PABPN1" "0000184435" "PABPN1" "0000184436" "PABPN1" "0000184437" "PABPN1" "0000184438" "PABPN1" "0000184439" "PABPN1" "0000184440" "PABPN1" "0000184441" "PABPN1" "0000184442" "PABPN1" "0000184443" "PABPN1" "0000184444" "PABPN1" "0000184445" "PABPN1" "0000184446" "PABPN1" "0000184447" "PABPN1" "0000184448" "PABPN1" "0000184449" "PABPN1" "0000184450" "PABPN1" "0000184451" "PABPN1" "0000184452" "PABPN1" "0000184453" "PABPN1" "0000184454" "PABPN1" "0000184455" "PABPN1" "0000184456" "PABPN1" "0000184457" "PABPN1" "0000184458" "PABPN1" "0000184459" "PABPN1" "0000184460" "PABPN1" "0000184461" "PABPN1" "0000184462" "PABPN1" "0000184463" "PABPN1" "0000184464" "PABPN1" "0000184465" "PABPN1" "0000184466" "PABPN1" "0000184467" "PABPN1" "0000184468" "PABPN1" "0000184469" "PABPN1" "0000184470" "PABPN1" "0000184471" "PABPN1" "0000184472" "PABPN1" "0000184473" "PABPN1" "0000184474" "PABPN1" "0000184475" "PABPN1" "0000184476" "PABPN1" "0000184477" "PABPN1" "0000184478" "PABPN1" "0000184479" "PABPN1" "0000184480" "PABPN1" "0000184481" "PABPN1" "0000184482" "PABPN1" "0000184483" "PABPN1" "0000184484" "PABPN1" "0000184485" "PABPN1" "0000184486" "PABPN1" "0000184487" "PABPN1" "0000184488" "PABPN1" "0000184489" "PABPN1" "0000184490" "PABPN1" "0000184491" "PABPN1" "0000184492" "PABPN1" "0000184493" "PABPN1" "0000184494" "PABPN1" "0000184495" "PABPN1" "0000184496" "PABPN1" "0000385864" "NRL" "0000385865" "NRL" "0000411288" "NRL" "0000411289" "NRL" "0000411290" "NRL" "0000411291" "NRL" "0000411292" "NRL" "0000411293" "NRL" "0000411294" "NRL" "0000411295" "NRL" "0000411296" "NRL" "0000411297" "NRL" "0000411298" "NRL" "0000411299" "NRL" "0000411300" "NRL" "0000411301" "NRL" "0000411302" "NRL" "0000411303" "NRL" "0000411304" "NRL" "0000411305" "NRL" "0000411306" "NRL" "0000411307" "NRL" "0000411308" "NRL" "0000411309" "NRL" "0000411310" "NRL" "0000411311" "NRL" "0000411312" "PABPN1" "0000411313" "PABPN1" "0000411314" "PABPN1" "0000411315" "PABPN1" "0000411316" "PABPN1" "0000455196" "GAA" "0000455196" "PABPN1" ## 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 = 225 "{{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}}" "0000293420" "0" "10" "14" "23792215" "23792215" "subst" "0.0230316" "02330" "PABPN1_000020" "g.23792215G>A" "" "" "" "PABPN1(NM_004643.4):c.474G>A (p.P158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23323006G>A" "" "benign" "" "0000323573" "0" "50" "14" "23790699" "23790701" "dup" "0" "01804" "PABPN1_000001" "g.23790699_23790701dup" "" "" "" "BCL2L2-PABPN1(NM_001199864.1):c.433-710_433-709insGGC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.23321490_23321492dup" "" "VUS" "" "0000408416" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000023" "g.(23790616_23790835)insN[6]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[12]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000408417" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000023" "g.(23790616_23790835)insN[6]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[12]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000408418" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408419" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408420" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408421" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408422" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408423" "1" "50" "14" "23790682" "23790711" "ins" "0" "02594" "PABPN1_000000" "g.(23790682_23790711)=" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[10]" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000408424" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408425" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408426" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408427" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408428" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408429" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408430" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408431" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408432" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408433" "1" "50" "14" "23790682" "23790711" "ins" "0" "02594" "PABPN1_000000" "g.(23790682_23790711)=" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[10]" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000408434" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408435" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408436" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408437" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408438" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408439" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408440" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408441" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408442" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408443" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408444" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408445" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408446" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000024" "g.(23790616_23790835)insN[9]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[13]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408447" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000024" "g.(23790616_23790835)insN[9]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[13]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408448" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000024" "g.(23790616_23790835)insN[9]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[13]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408449" "3" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000022" "g.(23790616_23790835)insN[3]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[11]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000408450" "3" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000022" "g.(23790616_23790835)insN[3]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[11]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000408451" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000026" "g.(23790616_23790835)insN[15]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[15]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408452" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000024" "g.(23790616_23790835)insN[9]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[13]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408453" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408454" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408455" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408456" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408457" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408458" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000023" "g.(23790616_23790835)insN[6]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[12]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000408459" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408460" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000024" "g.(23790616_23790835)insN[9]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[13]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408461" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000027" "g.(23790616_23790835)insN[18]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[16]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408462" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000024" "g.(23790616_23790835)insN[9]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[13]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408463" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000026" "g.(23790616_23790835)insN[15]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[15]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408464" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408465" "1" "90" "14" "23790616" "23790835" "ins" "0" "02594" "PABPN1_000025" "g.(23790616_23790835)insN[12]" "" "{DOI:de Leeuw 2018:10.1038/s41431-018-0302-4}" "" "GCR[14]" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000408474" "1" "90" "14" "23790690" "23790701" "dup" "0" "00006" "PABPN1_000004" "g.23790690_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)10 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321481_23321492dup" "" "pathogenic" "" "0000408475" "1" "90" "14" "23790690" "23790701" "dup" "0" "00006" "PABPN1_000004" "g.23790690_23790701dup" "4/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)10 (Ala[14])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321481_23321492dup" "" "pathogenic" "" "0000408476" "1" "90" "14" "23790690" "23790701" "dup" "0" "00006" "PABPN1_000004" "g.23790690_23790701dup" "" "{PMID:Scacheri 1999:10508991}" "" "(GCG)10 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321481_23321492dup" "" "pathogenic" "" "0000408477" "1" "90" "14" "23790690" "23790701" "dup" "0" "00006" "PABPN1_000004" "g.23790690_23790701dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)10 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321481_23321492dup" "" "pathogenic" "" "0000408478" "1" "90" "14" "23790690" "23790701" "dup" "0" "00006" "PABPN1_000004" "g.23790690_23790701dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)10 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321481_23321492dup" "" "pathogenic" "" "0000408479" "1" "90" "14" "23790690" "23790704" "dup" "0" "00006" "PABPN1_000008" "g.23790690_23790704dup" "5/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)6(GCA)1(GCG)4 (Ala[15])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321481_23321495dup" "" "pathogenic" "" "0000408480" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408481" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408482" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408483" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408484" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408485" "21" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408486" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408487" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408488" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408489" "21" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408490" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408491" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408492" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408493" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408494" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "21/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)9 (Ala[13])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408495" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408496" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "shared single haplotype" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408497" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "21/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)9 (Ala[13])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408498" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408499" "1" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408500" "11" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408501" "21" "90" "14" "23790693" "23790701" "dup" "0" "00006" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)9 (Ala[13])" "" "Germline" "" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000408502" "1" "90" "14" "23790693" "23790704" "dup" "0" "00006" "PABPN1_000009" "g.23790693_23790704dup" "18/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)6(GCA)1(GCG)3 (Ala[14])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321484_23321495dup" "" "pathogenic" "" "0000408503" "1" "90" "14" "23790693" "23790704" "dup" "0" "00006" "PABPN1_000009" "g.23790693_23790704dup" "" "{PMID:Nakamoto 2002:11890856}" "" "(GCG)6(GCA)1(GCG)3 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321484_23321495dup" "" "pathogenic" "" "0000408504" "1" "90" "14" "23790695" "23790712" "dup" "0" "00006" "PABPN1_000010" "g.23790695_23790712dup" "1/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)6(GCA)3(GCG)3 (Ala[16])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321486_23321503dup" "" "pathogenic" "" "0000408505" "1" "90" "14" "23790696" "23790701" "dup" "0" "00006" "PABPN1_000002" "g.23790696_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)8 (Ala[12])" "" "Germline" "" "" "0" "" "" "g.23321487_23321492dup" "" "pathogenic" "" "0000408506" "2" "90" "14" "23790696" "23790701" "dup" "0" "00006" "PABPN1_000002" "g.23790696_23790701dup" "6/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)8 (Ala[12])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321487_23321492dup" "" "pathogenic" "" "0000408507" "1" "90" "14" "23790696" "23790704" "dup" "0" "00006" "PABPN1_000011" "g.23790696_23790704dup" "6/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)6(GCA)1(GCG)2 (Ala[13])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321487_23321495dup" "" "pathogenic" "" "0000408508" "1" "90" "14" "23790696" "23790704" "dup" "0" "00006" "PABPN1_000011" "g.23790696_23790704dup" "" "{PMID:Scacheri 1999:10508991}" "" "(GCG)6(GCA)1(GCG)2 Ala[13]" "shared haplotype" "Germline" "" "" "0" "" "" "g.23321487_23321495dup" "" "pathogenic" "" "0000408509" "1" "90" "14" "23790696" "23790704" "dup" "0" "00006" "PABPN1_000011" "g.23790696_23790704dup" "" "{PMID:Scacheri 1999:10508991}" "" "(GCG)6(GCA)1(GCG)2 Ala[13]" "shared haplotype" "Germline" "" "" "0" "" "" "g.23321487_23321495dup" "" "pathogenic" "" "0000408510" "1" "90" "14" "23790696" "23790704" "dup" "0" "00006" "PABPN1_000011" "g.23790696_23790704dup" "" "{PMID:Scacheri 1999:10508991}" "" "(GCG)6(GCA)1(GCG)2 Ala[13]" "shared haplotype" "Germline" "" "" "0" "" "" "g.23321487_23321495dup" "" "pathogenic" "" "0000408511" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408512" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408513" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408514" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408515" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408516" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408517" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408518" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408519" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408520" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408521" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408522" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408523" "1" "90" "14" "23790696" "23790707" "dup" "0" "00006" "PABPN1_000012" "g.23790696_23790707dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6(GCA)2(GCG)2 (Ala[14])" "" "Germline" "" "" "0" "" "" "g.23321487_23321498dup" "" "pathogenic" "" "0000408524" "1" "90" "14" "23790698" "23790712" "dup" "0" "00006" "PABPN1_000013" "g.23790698_23790712dup" "" "{PMID:Nakamoto 2002:11890856}" "" "(GCG)6(GCA)3(GCG)2 (Ala[15])" "" "Germline" "" "" "0" "" "" "g.23321489_23321503dup" "" "pathogenic" "" "0000408525" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "2/86 control chromosomes" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408526" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408527" "21" "90" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "pathogenic" "" "0000408528" "21" "90" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "pathogenic" "" "0000408529" "21" "90" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "pathogenic" "" "0000408530" "21" "90" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "pathogenic" "" "0000408531" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "5/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)7 (Ala[11])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408532" "11" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408533" "21" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408534" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "5/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)7 (Ala[11])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408535" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "5/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)7 (Ala[11])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408536" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "5/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)7 (Ala[11])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408537" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "5/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)7 (Ala[11])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408538" "1" "70" "14" "23790699" "23790701" "dup" "0" "00006" "PABPN1_000001" "g.23790699_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)7 (Ala[11])" "" "Germline" "" "" "0" "" "" "g.23321490_23321492dup" "" "likely pathogenic" "" "0000408539" "2" "90" "14" "23790699" "23790704" "dup" "0" "00006" "PABPN1_000014" "g.23790699_23790704dup" "2/178" "{PMID:Robinson 2005:15645184}" "MspA1I+" "(GCG)6(GCA)1(GCG)1 (Ala[12])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321490_23321495dup" "" "pathogenic" "" "0000408540" "2" "90" "14" "23790699" "23790704" "dup" "0" "00006" "PABPN1_000014" "g.23790699_23790704dup" "2/178" "{PMID:Robinson 2005:15645184}" "MspA1I+" "(GCG)6(GCA)1(GCG)1 (Ala[12])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321490_23321495dup" "" "pathogenic" "" "0000408541" "1" "90" "14" "23790701" "23790712" "dup" "0" "00006" "PABPN1_000015" "g.23790701_23790712dup" "6/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)6(GCA)3(GCG)1 (Ala[14])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321492_23321503dup" "" "pathogenic" "" "0000408542" "1" "90" "14" "23790681" "23790701" "dup" "0" "00006" "PABPN1_000007" "g.23790681_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)13 (Ala[17])" "" "Germline" "" "" "0" "" "" "g.23321472_23321492dup" "" "pathogenic" "" "0000408543" "1" "90" "14" "23790681" "23790701" "dup" "0" "00006" "PABPN1_000007" "g.23790681_23790701dup" "4/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)13 (Ala[17])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321472_23321492dup" "" "pathogenic" "" "0000408544" "1" "90" "14" "23790713" "23790713" "subst" "0" "00006" "PABPN1_000017" "g.23790713G>C" "1/202 cases" "{PMID:Robinson 2006:16648376}, {OMIM602279:0003}" "" "Ala[13]" "patients, not in 160 control chromosomes" "Germline" "" "" "0" "" "" "g.23321504G>C" "" "pathogenic" "" "0000408545" "0" "50" "14" "23790713" "23790713" "subst" "0" "00006" "PABPN1_000017" "g.23790713G>C" "" "" "" "Ala[13]" "" "Germline" "" "" "0" "" "" "g.23321504G>C" "" "VUS" "" "0000408546" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408547" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408548" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408549" "21" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408550" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408551" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408552" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408553" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408554" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:Robinson 2006:16648376}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408555" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408556" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408557" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408558" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408559" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408560" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408561" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408562" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408563" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408564" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408565" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408566" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408567" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408568" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408569" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408570" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408571" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408572" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408573" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408574" "21" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408575" "21" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408576" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408577" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408578" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408579" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408580" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408581" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408582" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408583" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:Nakamoto 2002:11890856}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408584" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:Nakamoto 2002:11890856}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408585" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408586" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408587" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408588" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408589" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408590" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408591" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408592" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408593" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408594" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408595" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408596" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408597" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408598" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408599" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408600" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408601" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408602" "2" "11" "14" "23790682" "23790711" "" "0" "00006" "PABPN1_000000" "g.23790682_23790711=" "" "" "" "(GCG)6 Ala[10]" "" "Germline" "" "" "0" "" "" "g.23321473_23321502=" "" "benign" "" "0000408603" "1" "90" "14" "23790684" "23790701" "dup" "0" "00006" "PABPN1_000006" "g.23790684_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)12 (Ala[16])" "" "Germline" "" "" "0" "" "" "g.23321475_23321492dup" "" "pathogenic" "" "0000408604" "1" "90" "14" "23790684" "23790701" "dup" "0" "00006" "PABPN1_000006" "g.23790684_23790701dup" "4/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)12 (Ala[16])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321475_23321492dup" "" "pathogenic" "" "0000408605" "11" "90" "14" "23790684" "23790701" "dup" "0" "00006" "PABPN1_000006" "g.23790684_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)12 (Ala[16])" "only repeat expansion identified in 589 meiosis" "Germline" "" "" "0" "" "" "g.23321475_23321492dup" "" "pathogenic" "" "0000408606" "11" "90" "14" "23790684" "23790701" "dup" "0" "00006" "PABPN1_000006" "g.23790684_23790701dup" "" "{PMID:Brais 1998:09462747}, {OMIM602279:0002}" "" "(GCG)12 (Ala[16])" "only repeat expansion identified in 589 meiosis" "Germline" "" "" "0" "" "" "g.23321475_23321492dup" "" "pathogenic" "" "0000408607" "1" "90" "14" "23790684" "23790701" "dup" "0" "00006" "PABPN1_000006" "g.23790684_23790701dup" "" "{PMID:van der Sluijs 2003:12673802}" "" "(GCG)12 (Ala[16])" "" "Germline" "" "" "0" "" "" "g.23321475_23321492dup" "" "pathogenic" "" "0000408608" "1" "90" "14" "23790684" "23790704" "dup" "0" "00006" "PABPN1_000016" "g.23790684_23790704dup" "" "{PMID:Schober 2001:11304042}" "" "(GCG)6(GCA)1(GCG)6 (Ala[17])" "" "Germline" "" "" "0" "" "" "g.23321475_23321495dup" "" "pathogenic" "" "0000408609" "1" "90" "14" "23790687" "23790701" "dup" "0" "00006" "PABPN1_000005" "g.23790687_23790701dup" "" "{PMID:Brais 1998:09462747}" "" "(GCG)11 (Ala[15])" "" "Germline" "" "" "0" "" "" "g.23321478_23321492dup" "" "pathogenic" "" "0000408610" "1" "90" "14" "23790687" "23790701" "dup" "0" "00006" "PABPN1_000005" "g.23790687_23790701dup" "7/178" "{PMID:Robinson 2005:15645184}" "" "(GCG)11 (Ala[15])" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.23321478_23321492dup" "" "pathogenic" "" "0000813030" "3" "70" "14" "0" "0" "" "0" "00000" "SERPINA1_000009" "g.?" "" "{PMID:Ehrenberg 2019:31814694}" "" "NRL (NM_006177.3; OMIM: 162080): c.91C>T; p.Arg31* (hom) (ESCS), PABPN1 (NM_004643; OMIM: 602279): (GCN)13 (hom) (OPMD)" "homozygous, (GCN)13 probably is c.3GGC(13)" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000813031" "3" "70" "14" "0" "0" "" "0" "00000" "SERPINA1_000009" "g.?" "" "{PMID:Ehrenberg 2019:31814694}" "" "NRL (NM_006177.3; OMIM: 162080): c.91C>T; p.Arg31* (hom) (ESCS), PABPN1 (NM_004643; OMIM: 602279): (GCN)13 (hom) (OPMD)" "homozygous, (GCN)13 probably is c.3GGC(13)" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000868333" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; homozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868335" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; homozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868337" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; homozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868339" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868341" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868343" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868345" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868347" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868349" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868351" "3" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; not tested (extrapolated as homozygous)" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868353" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868355" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous)" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868357" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous)" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868359" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868361" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868363" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868365" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous)" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868367" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868369" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868371" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous)" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868373" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868375" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868377" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868379" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868380" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868381" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868382" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; heterozygous" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868383" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous)" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000868384" "0" "90" "14" "23790693" "23790701" "dup" "0" "00000" "PABPN1_000003" "g.23790693_23790701dup" "" "{PMID:Braverman 2017:28590779}" "" "PAPBN1 (GCN)13" "probably c.15_23dup, annotation incorrect; not tested (extrapolated as heterozygous)" "Germline" "yes" "" "0" "" "" "g.23321484_23321492dup" "" "pathogenic" "" "0000891687" "0" "70" "14" "23790684" "23790701" "dup" "0" "02326" "PABPN1_000006" "g.23790684_23790701dup" "" "" "" "PABPN1(NM_004643.3):c.6_23dupGGCGGCGGCGGCGGCGGC (p.A6_A11dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000891688" "0" "90" "14" "23790701" "23790702" "ins" "0" "01804" "BCL2L2_000004" "g.23790701_23790702insGGCAGC" "" "" "" "PABPN1(NM_004643.3):c.21_22insGCGGCA (p.(Ala10_Ala11dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007227" "0" "90" "14" "23790696" "23790701" "dup" "0" "00454" "PABPN1_000002" "g.23790696_23790701dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.23321487_23321492dup" "" "pathogenic (dominant)" "ACMG" "0001039878" "0" "50" "14" "23790761" "23790761" "subst" "0" "01804" "BCL2L2_000005" "g.23790761T>G" "" "" "" "PABPN1(NM_004643.4):c.83T>G (p.(Val28Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039879" "0" "50" "14" "23790913" "23790914" "ins" "0" "01804" "BCL2L2_000006" "g.23790913_23790914insT" "" "" "" "PABPN1(NM_004643.4):c.235_236insT (p.(Ala79Valfs*30))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PABPN1 ## Count = 225 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000293420" "00015582" "10" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Pro158=)" "3" "" "0000323573" "00015582" "50" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "" "0000408416" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[6]" "r.(?)" "p.(Ala2[12])" "1" "Ala[12]" "0000408417" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[6]" "r.(?)" "p.(Ala2[12])" "1" "Ala[12]" "0000408418" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408419" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408420" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408421" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408422" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408423" "00015582" "50" "0" "0" "0" "0" "c.=" "r.(?)" "p.(Ala2[10])" "1" "Ala[10]" "0000408424" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408425" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408426" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408427" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408428" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408429" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408430" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408431" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408432" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408433" "00015582" "50" "0" "0" "0" "0" "c.=" "r.(?)" "p.(Ala2[10])" "1" "Ala[10]" "0000408434" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408435" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408436" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408437" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408438" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408439" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408440" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408441" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408442" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408443" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408444" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408445" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408446" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[g]" "r.(?)" "p.(Ala2[13])" "1" "Ala[13]" "0000408447" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[g]" "r.(?)" "p.(Ala2[13])" "1" "Ala[13]" "0000408448" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[g]" "r.(?)" "p.(Ala2[13])" "1" "Ala[13]" "0000408449" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[3]" "r.(?)" "p.(Ala2[11])" "1" "Ala[11]" "0000408450" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[3]" "r.(?)" "p.(Ala2[11])" "1" "Ala[11]" "0000408451" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[15])" "1" "Ala[15]" "0000408452" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[g]" "r.(?)" "p.(Ala2[13])" "1" "Ala[13]" "0000408453" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408454" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408455" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408456" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408457" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408458" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[6]" "r.(?)" "p.(Ala2[12])" "1" "Ala[12]" "0000408459" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408460" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[g]" "r.(?)" "p.(Ala2[13])" "1" "Ala[13]" "0000408461" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[16])" "1" "Ala[16]" "0000408462" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[g]" "r.(?)" "p.(Ala2[13])" "1" "Ala[13]" "0000408463" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[15]" "r.(?)" "p.(Ala2[15])" "1" "Ala[15]" "0000408464" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408465" "00015582" "90" "-63" "0" "157" "0" "c.(-63_157)insN[12]" "r.(?)" "p.(Ala2[14])" "1" "Ala[14]" "0000408474" "00015582" "90" "12" "0" "23" "0" "c.12_23dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[10]" "0000408475" "00015582" "90" "12" "0" "23" "0" "c.12_23dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[10]" "0000408476" "00015582" "90" "12" "0" "23" "0" "c.12_23dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[10]" "0000408477" "00015582" "90" "12" "0" "23" "0" "c.12_23dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[10]" "0000408478" "00015582" "90" "12" "0" "23" "0" "c.12_23dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[10]" "0000408479" "00015582" "90" "12" "0" "26" "0" "c.12_26dup" "r.(?)" "p.(Ala7_Ala11dup)" "1" "Ala[15] GCG[6]GCA[1]GCG[4]" "0000408480" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408481" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408482" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408483" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408484" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408485" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408486" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408487" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408488" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408489" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408490" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408491" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408492" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408493" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408494" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408495" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408496" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408497" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408498" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408499" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408500" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408501" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[9]" "0000408502" "00015582" "90" "15" "0" "26" "0" "c.15_26dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[1]GCG[3]" "0000408503" "00015582" "90" "15" "0" "26" "0" "c.15_26dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[1]GCG[3]" "0000408504" "00015582" "90" "17" "0" "34" "0" "c.17_34dup" "r.(?)" "p.(Ala6_Ala11dup)" "1" "Ala[16] GCG[6]GCA[3]GCG[3]" "0000408505" "00015582" "90" "18" "0" "23" "0" "c.18_23dup" "r.(?)" "p.(Ala10_Ala11dup)" "1" "Ala[12] GCG[8]" "0000408506" "00015582" "90" "18" "0" "23" "0" "c.18_23dup" "r.(?)" "p.(Ala10_Ala11dup)" "1" "Ala[12] GCG[8]" "0000408507" "00015582" "90" "18" "0" "26" "0" "c.18_26dup" "r.(?)" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[6]GCA[1]GCG[2]" "0000408508" "00015582" "90" "18" "0" "26" "0" "c.18_26dup" "r.18_26dup" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[6]GCA[1]GCG[2]" "0000408509" "00015582" "90" "18" "0" "26" "0" "c.18_26dup" "r.18_26dup" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[6]GCA[1]GCG[2]" "0000408510" "00015582" "90" "18" "0" "26" "0" "c.18_26dup" "r.18_26dup" "p.(Ala9_Ala11dup)" "1" "Ala[13] GCG[6]GCA[1]GCG[2]" "0000408511" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408512" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408513" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408514" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408515" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408516" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408517" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408518" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408519" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408520" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408521" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408522" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408523" "00015582" "90" "18" "0" "29" "0" "c.18_29dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[2]GCG[2]" "0000408524" "00015582" "90" "20" "0" "34" "0" "c.20_34dup" "r.(?)" "p.(Ala7_Ala11dup)" "1" "Ala[15] GCG[6]GCA[3]GCG[2]" "0000408525" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408526" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408527" "00015582" "90" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408528" "00015582" "90" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408529" "00015582" "90" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408530" "00015582" "90" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408531" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408532" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408533" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408534" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408535" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408536" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408537" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408538" "00015582" "70" "21" "0" "23" "0" "c.21_23dup" "r.(?)" "p.(Ala11dup)" "1" "Ala[11] GCG[7]" "0000408539" "00015582" "90" "21" "0" "26" "0" "c.21_26dup" "r.(?)" "p.(Ala10_Ala11dup)" "1" "Ala[12] GCG[6]GCA[1]GCG[1]" "0000408540" "00015582" "90" "21" "0" "26" "0" "c.21_26dup" "r.(?)" "p.(Ala10_Ala11dup)" "1" "Ala[12] GCG[6]GCA[1]GCG[1]" "0000408541" "00015582" "90" "23" "0" "34" "0" "c.23_34dup" "r.(?)" "p.(Ala8_Ala11dup)" "1" "Ala[14] GCG[6]GCA[3]GCG[1]" "0000408542" "00015582" "90" "3" "0" "23" "0" "c.3_23dup" "r.(?)" "p.(Ala5_Ala11dup)" "1" "Ala[17] GCG[13]" "0000408543" "00015582" "90" "3" "0" "23" "0" "c.3_23dup" "r.(?)" "p.(Ala5_Ala11dup)" "1" "Ala[17] GCG[13]" "0000408544" "00015582" "90" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Gly12Ala)" "1" "" "0000408545" "00015582" "50" "35" "0" "35" "0" "c.35G>C" "r.(?)" "p.(Gly12Ala)" "1" "" "0000408546" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408547" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408548" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408549" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408550" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408551" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408552" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408553" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408554" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408555" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408556" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408557" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408558" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408559" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408560" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408561" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408562" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408563" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408564" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408565" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408566" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408567" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408568" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408569" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408570" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408571" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408572" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408573" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408574" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408575" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408576" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408577" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408578" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408579" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408580" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408581" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408582" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408583" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408584" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408585" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408586" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408587" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408588" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408589" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408590" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408591" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408592" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408593" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408594" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408595" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408596" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408597" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408598" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408599" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408600" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408601" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408602" "00015582" "11" "4" "0" "33" "0" "c.4_33=" "r.=" "p.=" "1" "Ala[10] GCG[6]" "0000408603" "00015582" "90" "6" "0" "23" "0" "c.6_23dup" "r.(?)" "p.(Ala6_Ala11dup)" "1" "Ala[16] GCG[12]" "0000408604" "00015582" "90" "6" "0" "23" "0" "c.6_23dup" "r.(?)" "p.(Ala6_Ala11dup)" "1" "Ala[16] GCG[12]" "0000408605" "00015582" "90" "6" "0" "23" "0" "c.6_23dup" "r.(?)" "p.(Ala6_Ala11dup)" "1" "Ala[16] GCG[12]" "0000408606" "00015582" "90" "6" "0" "23" "0" "c.6_23dup" "r.(?)" "p.(Ala6_Ala11dup)" "1" "Ala[16] GCG[12]" "0000408607" "00015582" "90" "6" "0" "23" "0" "c.6_23dup" "r.(?)" "p.(Ala6_Ala11dup)" "1" "Ala[16] GCG[12]" "0000408608" "00015582" "90" "6" "0" "26" "0" "c.6_26dup" "r.(?)" "p.(Ala5_Ala11dup)" "1" "Ala[17] GCG[6]GCA[1]GCG[6]" "0000408609" "00015582" "90" "9" "0" "23" "0" "c.9_23dup" "r.(?)" "p.(Ala7_Ala11dup)" "1" "Ala[15] GCG[11]" "0000408610" "00015582" "90" "9" "0" "23" "0" "c.9_23dup" "r.(?)" "p.(Ala7_Ala11dup)" "1" "Ala[15] GCG[11]" "0000813030" "00015582" "70" "" "0" "" "0" "c.3GGC(13)" "r.(?)" "p.(?)" "" "" "0000813031" "00015582" "70" "" "0" "" "0" "c.3GGC(13)" "r.(?)" "p.(?)" "" "" "0000868333" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868335" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868337" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868339" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868341" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868343" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868345" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868347" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868349" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868351" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868353" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868355" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868357" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868359" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868361" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868363" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868365" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868367" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868369" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868371" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868373" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868375" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868377" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868379" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868380" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868381" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868382" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868383" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000868384" "00015582" "90" "15" "0" "23" "0" "c.15_23dup" "r.(?)" "p.(Ala9_Ala11dup)" "" "" "0000891687" "00015582" "70" "6" "0" "23" "0" "c.6_23dup" "r.(?)" "p.(Ala6_Ala11dup)" "" "" "0000891688" "00015582" "90" "23" "0" "24" "0" "c.23_24insGGCAGC" "r.(?)" "p.(Ala10_Ala11dup)" "" "" "0001007227" "00015582" "90" "18" "0" "23" "0" "c.18_23dup" "r.(?)" "p.(Ala10_Ala11dup)" "1" "" "0001039878" "00015582" "50" "83" "0" "83" "0" "c.83T>G" "r.(?)" "p.(Val28Gly)" "" "" "0001039879" "00015582" "50" "235" "0" "236" "0" "c.235_236insT" "r.(?)" "p.(Ala79Valfs*30)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 218 "{{screeningid}}" "{{variantid}}" "0000184372" "0000408416" "0000184373" "0000408417" "0000184374" "0000408418" "0000184375" "0000408419" "0000184376" "0000408420" "0000184377" "0000408421" "0000184378" "0000408422" "0000184379" "0000408423" "0000184380" "0000408424" "0000184381" "0000408425" "0000184382" "0000408426" "0000184383" "0000408427" "0000184384" "0000408428" "0000184385" "0000408429" "0000184386" "0000408430" "0000184387" "0000408431" "0000184388" "0000408432" "0000184389" "0000408433" "0000184390" "0000408434" "0000184391" "0000408435" "0000184392" "0000408436" "0000184393" "0000408437" "0000184394" "0000408438" "0000184395" "0000408439" "0000184396" "0000408440" "0000184397" "0000408441" "0000184398" "0000408442" "0000184399" "0000408443" "0000184400" "0000408444" "0000184401" "0000408445" "0000184402" "0000408446" "0000184403" "0000408447" "0000184404" "0000408448" "0000184405" "0000408449" "0000184406" "0000408450" "0000184407" "0000408451" "0000184408" "0000408452" "0000184409" "0000408453" "0000184410" "0000408454" "0000184411" "0000408455" "0000184412" "0000408456" "0000184413" "0000408457" "0000184414" "0000408458" "0000184415" "0000408459" "0000184416" "0000408460" "0000184417" "0000408461" "0000184418" "0000408462" "0000184419" "0000408463" "0000184420" "0000408464" "0000184421" "0000408465" "0000184429" "0000408525" "0000184429" "0000408564" "0000184430" "0000408506" "0000184430" "0000408531" "0000184431" "0000408536" "0000184431" "0000408539" "0000184432" "0000408497" "0000184432" "0000408540" "0000184433" "0000408537" "0000184433" "0000408546" "0000184434" "0000408544" "0000184434" "0000408554" "0000184435" "0000408494" "0000184435" "0000408561" "0000184436" "0000408507" "0000184436" "0000408562" "0000184437" "0000408475" "0000184437" "0000408563" "0000184438" "0000408502" "0000184438" "0000408565" "0000184439" "0000408541" "0000184439" "0000408566" "0000184440" "0000408567" "0000184440" "0000408610" "0000184441" "0000408479" "0000184441" "0000408568" "0000184442" "0000408569" "0000184442" "0000408604" "0000184443" "0000408504" "0000184443" "0000408570" "0000184444" "0000408543" "0000184444" "0000408571" "0000184445" "0000408495" "0000184445" "0000408572" "0000184446" "0000408496" "0000184446" "0000408573" "0000184447" "0000408574" "0000184447" "0000408605" "0000184448" "0000408575" "0000184448" "0000408606" "0000184449" "0000408532" "0000184449" "0000408533" "0000184450" "0000408508" "0000184450" "0000408576" "0000184451" "0000408534" "0000184451" "0000408577" "0000184452" "0000408535" "0000184452" "0000408578" "0000184453" "0000408509" "0000184453" "0000408579" "0000184454" "0000408510" "0000184454" "0000408580" "0000184455" "0000408476" "0000184455" "0000408581" "0000184456" "0000408582" "0000184456" "0000408608" "0000184457" "0000408524" "0000184457" "0000408583" "0000184458" "0000408503" "0000184458" "0000408584" "0000184459" "0000408477" "0000184459" "0000408585" "0000184460" "0000408478" "0000184460" "0000408586" "0000184461" "0000408511" "0000184461" "0000408587" "0000184462" "0000408512" "0000184462" "0000408588" "0000184463" "0000408513" "0000184463" "0000408589" "0000184464" "0000408514" "0000184464" "0000408590" "0000184465" "0000408515" "0000184465" "0000408591" "0000184466" "0000408516" "0000184466" "0000408592" "0000184467" "0000408517" "0000184467" "0000408593" "0000184468" "0000408518" "0000184468" "0000408594" "0000184469" "0000408519" "0000184469" "0000408595" "0000184470" "0000408520" "0000184470" "0000408596" "0000184471" "0000408521" "0000184471" "0000408597" "0000184472" "0000408522" "0000184472" "0000408598" "0000184473" "0000408523" "0000184473" "0000408599" "0000184474" "0000408600" "0000184474" "0000408607" "0000184475" "0000408498" "0000184475" "0000408601" "0000184476" "0000408499" "0000184476" "0000408602" "0000184477" "0000408500" "0000184477" "0000408501" "0000184478" "0000408538" "0000184478" "0000408547" "0000184479" "0000408526" "0000184479" "0000408548" "0000184480" "0000408480" "0000184480" "0000408549" "0000184481" "0000408481" "0000184481" "0000408527" "0000184482" "0000408482" "0000184482" "0000408550" "0000184483" "0000408483" "0000184483" "0000408551" "0000184484" "0000408484" "0000184484" "0000408485" "0000184485" "0000408486" "0000184485" "0000408552" "0000184486" "0000408487" "0000184486" "0000408553" "0000184487" "0000408488" "0000184487" "0000408489" "0000184488" "0000408490" "0000184488" "0000408528" "0000184489" "0000408491" "0000184489" "0000408529" "0000184490" "0000408492" "0000184490" "0000408530" "0000184491" "0000408505" "0000184491" "0000408555" "0000184492" "0000408493" "0000184492" "0000408556" "0000184493" "0000408474" "0000184493" "0000408557" "0000184494" "0000408558" "0000184494" "0000408609" "0000184495" "0000408559" "0000184495" "0000408603" "0000184496" "0000408542" "0000184496" "0000408560" "0000385864" "0000813030" "0000385865" "0000813031" "0000411288" "0000868333" "0000411289" "0000868335" "0000411290" "0000868337" "0000411291" "0000868339" "0000411292" "0000868341" "0000411293" "0000868343" "0000411294" "0000868345" "0000411295" "0000868347" "0000411296" "0000868349" "0000411297" "0000868351" "0000411298" "0000868353" "0000411299" "0000868355" "0000411300" "0000868357" "0000411301" "0000868359" "0000411302" "0000868361" "0000411303" "0000868363" "0000411304" "0000868365" "0000411305" "0000868367" "0000411306" "0000868369" "0000411307" "0000868371" "0000411308" "0000868373" "0000411309" "0000868375" "0000411310" "0000868377" "0000411311" "0000868379" "0000411312" "0000868380" "0000411313" "0000868381" "0000411314" "0000868382" "0000411315" "0000868383" "0000411316" "0000868384" "0000455196" "0001007227"