### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PKP2) # 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}}" "PKP2" "plakophilin 2" "12" "p11" "unknown" "NG_009000.1" "UD_132118351415" "" "https://www.LOVD.nl/PKP2" "ARVD/C genetic variants database " "1" "9024" "5318" "602861" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PKP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-01-23 00:00:00" "00006" "2018-12-23 12:05:57" "00006" "2025-12-04 10:36:49" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001012" "PKP2" "transcript variant 2b" "002" "NM_004572.3" "" "NP_004563.2" "" "" "" "-115" "4324" "2646" "32943680" "33049780" "00000" "2012-09-13 13:07:00" "" "" "00025790" "PKP2" "transcript variant 2a" "001" "NM_001005242.2" "" "NP_001005242.2" "" "" "" "-115" "4192" "2514" "33049780" "32943680" "00006" "2022-12-23 11:32:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00364" "ARVD9" "dysplasia, arrhythmogenic right ventricular, type 9" "AD" "609040" "" "" "" "00006" "2014-03-30 03:02:48" "00006" "2021-12-10 21:51:32" "00365" "PPCM" "cardiomyopathy, peripartum (PPCM)" "" "" "" "" "" "00006" "2014-03-30 03:16:23" "00006" "2015-12-07 07:11:25" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-19 16:44:17" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01410" "HKPX" "hyperekplexia, hereditary (HKPX)" "AD;AR" "149400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02436" "DM2" "dystrophy, myotonic, type 2 (DM-2)" "AD" "602668" "" "" "autosomal dominant" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05099" "ARVD/C" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "" "" "" "" "00006" "2015-10-31 14:39:33" "00006" "2018-12-23 15:01:47" "05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05540" "ARVD" "dysplasia, arrhythmogenic right ventricular (ARVD)" "" "" "" "" "" "00006" "2018-12-23 15:02:17" "" "" "06989" "cleft" "cleft lip with/without cleft palate" "" "" "" "" "" "00006" "2022-12-23 13:40:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PKP2" "00364" ## Individuals ## Do not remove or alter this header ## ## Count = 484 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00016374" "" "" "" "2" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "4-generation family, 2 affecteds" "F" "no" "Netherlands" "" "0" "" "" "" "" "00028976" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "Belgium" ">47y" "0" "" "" "European" "" "00028978" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">66y" "0" "" "" "white" "" "00028984" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Belgium" ">74y" "0" "" "" "European" "" "00028987" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "Belgium" ">38y" "0" "" "" "European" "" "00028993" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">46y" "0" "" "" "white" "" "00058467" "" "" "" "2" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "3-generation family, 2 affecteds" "F" "" "Germany" "" "0" "" "" "" "" "00058469" "" "" "" "4" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "2-generation family, 4 affecteds" "F" "" "South Africa" "" "0" "" "" "" "" "00064032" "" "" "" "2" "" "00006" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "3-generation family, 2 affecteds (2M), 5 suspected (F, 4M)" "M" "" "" "" "0" "" "" "" "" "00064033" "" "" "" "2" "" "00006" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "3-generation family, 4 affecteds (4M), 3 suspected (2F, M)" "M" "" "" "" "0" "" "" "" "" "00064035" "" "" "" "1" "" "00006" "{PMID:van Tintelen 2006:16567567}, {PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "M" "" "" ">12y" "0" "" "" "" "" "00064036" "" "" "" "5" "" "00006" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "3-generation family, 4 affecteds (4M), 1 suspected (M)" "M" "" "" "" "0" "" "" "" "" "00064079" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064085" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064094" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064115" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064149" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064161" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064163" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064201" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064717" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "45y" "0" "" "" "" "" "00064730" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "38y" "0" "" "" "" "" "00064738" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "48y" "0" "" "" "" "" "00064760" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y07m" "0" "" "" "Europe" "SIDS004" "00073726" "" "" "" "1" "" "00006" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "F" "" "" "" "0" "" "" "" "" "00073727" "" "" "" "1" "" "00006" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00100438" "" "" "" "1" "" "01915" "" "" "M" "no" "Italy" ">34y" "0" "no" "Sotalol" "European" "Fam2.II.1" "00100439" "" "" "" "1" "" "01915" "" "" "M" "no" "Italy" ">35y" "0" "no" "Sotalol" "European" "Fam1.III.2" "00101400" "" "" "" "2" "" "00006" "{PMID:Syrris 2006:16415378}" "2-generation family, 1 affected, non-affected carrier father" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16415378-FamIPatII1" "00101404" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "" "F" "" "Germany" "" "0" "" "" "" "15489853-PatEPF17" "00101410" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "" "M" "" "Germany" "" "0" "" "" "" "15489853-Pat10" "00101419" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00101420" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00101423" "" "" "" "9" "" "00006" "{PMID:Syrris 2006:16415378}" "4-generation family, 9 heterozygous carriers (7F, 2M), 3 fulfilling ARVC criteria/6 not" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16415378-FamD" "00101434" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00101435" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00101437" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00101438" "" "" "" "1" "" "00006" "{PMID:Syrris 2006:16415378}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16415378-FamJ" "00101441" "" "" "" "1" "" "00006" "{PMID:Syrris P 2006:16415378}" "{FSM:ARVD9_mut};" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "16415378-?" "00101443" "" "" "" "3" "" "00006" "{PMID:Kannankeril 2006:16876743}" "2-generation family, 1 affected female, possibly affected heterozygous carrier sister, unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "16876743-Fam" "00101445" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00101447" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00101448" "" "" "" "1" "" "00006" "{PMID:Gerull 2004:15489853}" "{FSM:ARVD9_mut};" "" "" "Germany" "" "0" "" "" "" "15489853-?" "00128436" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "182" "00128474" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "259" "00128488" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "286" "00143769" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" "" "00154956" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00154959" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00163890" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 2 affecteds (2M), 3 unaffected (2M, 1F)" "M" "" "Netherlands" "" "" "yes" "" "white" "" "00180910" "" "" "" "1" "" "01601" "" "" "M" "?" "Denmark" "19y" "0" "" "" "" "55" "00207952" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00209098" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209190" "" "" "" "1" "" "00802" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "20152563-Pat18" "00209229" "" "" "" "4" "" "00802" "{PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}" "Offspring has different combinations of two of these mutations.\r\nControls were done voor DSG2 mutation only." "M" "" "United States" "" "0" "" "" "" "20152563-Pat14" "00209237" "" "" "" "2" "" "00802" "{PMID:den Haan:20031617}" "Digenic in one patient" "" "" "" "" "0" "" "" "" "" "00209238" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}, {PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209248" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209358" "" "" "" "1" "" "00802" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "20152563-Pat17" "00209414" "" "" "" "2" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "with wooly hair and mild palmoplantar keratoderma" "" "" "" "" "0" "" "" "" "" "00209435" "" "" "" "1" "" "00802" "{PMID:Xu 2010:20152563}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "20152563-FamAPat01" "00209436" "" "" "" "1" "" "00802" "{PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "20152563-Pat02" "00209440" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "" "" "" "" "" "0" "" "" "" "" "00209441" "" "" "" "0" "" "03133" "{PMID:Rasmussen 2013:23137101}" "" "" "" "" "" "0" "" "" "" "" "00209619" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}" "Found in 5/210 control alleles by A. Rampazzo (personal communication)" "" "" "" "" "0" "" "" "" "" "00209620" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209621" "" "" "" "1" "" "00802" "escardio.org (ID24&id=4371:Rampazzo}, {PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "" "00209622" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}" "" "" "" "" "" "0" "" "" "" "" "00209623" "" "" "" "2" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "reported as c.144_148delCAGA" "" "" "" "" "0" "" "" "" "" "00209624" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209625" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209626" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209627" "" "" "" "11" "" "00802" "{PMID:Lahtinen:17521752}" "" "" "" "" "" "0" "" "" "" "" "00209628" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}" "Compound heterozygote: PKP2 p.Gln62Lys and c.2489-1G>A" "" "" "" "" "0" "" "" "" "" "00209629" "" "" "" "1" "" "00802" "{PMID:Lahtinen:17521752}" "Compound heterozygote: PKP2 p.Gln62Lys and p.Asn613Lys" "" "" "" "" "0" "" "" "" "" "00209630" "" "" "" "1" "" "00802" "" "from UK" "" "" "" "" "0" "" "" "" "" "00209631" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209632" "" "" "" "1" "" "00802" "{PMID:Wu:19302745}" "" "" "" "" "" "0" "" "" "" "" "00209633" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209634" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209635" "" "" "" "1" "" "00802" "Anastasakis (escardio.org ID19 2396), Tsatsopoulou (escardio.org ID19 2397)" "4 related mutation carriers are TFC-; 2 family members had ARVC on autopsy after SCD (at age 15 and 16)" "" "" "" "" "0" "" "" "" "" "00209636" "" "" "" "1" "" "00802" "escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209637" "" "" "" "11" "" "00802" "{PMID:van Tintelen:16567567}" "from 5 different families" "" "" "" "" "0" "" "" "" "" "00209638" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}" "" "" "" "" "" "0" "" "" "" "" "00209639" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209640" "" "" "" "2" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209641" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209642" "" "" "" "9" "" "00802" "{PMID:van Tintelen:16567567}" "From two different families" "" "" "" "" "0" "" "" "" "" "00209643" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209644" "" "" "" "1" "" "00802" "{PMID:McKoy:10902626}, {PMID:Antoniades:16893920}" "" "" "" "" "" "0" "" "" "" "" "00209645" "" "" "" "4" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209646" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209647" "" "" "" "1" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "" "" "" "" "" "0" "" "" "" "" "00209648" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209649" "" "" "" "1" "" "00802" "{PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209650" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209651" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209652" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209653" "" "" "" "1" "" "00802" "" "Compound heterozygote: PKP2 p.His318GlnfsX24 and c.1510+5G>A(UV)" "" "" "" "" "0" "" "" "" "" "00209654" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209655" "" "" "" "5" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209656" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209657" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209658" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209659" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209660" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}, {PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209661" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "" "" "" "" "" "0" "" "" "" "" "00209662" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209663" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209664" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209665" "" "" "" "5" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209666" "" "" "" "2" "" "00802" "{PMID:Basso:16774985}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209667" "" "" "" "9" "" "00802" "ahajournals abstract 114/18" "Frequent occurence of SCD at young age (5 cases at age 14 to 29) occuring mostly during physical activity." "" "" "" "" "0" "" "" "" "" "00209668" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209669" "" "" "" "2" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209670" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209671" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}" "" "" "" "United States" "" "0" "" "" "" "20152563-FamBPat" "00209672" "" "" "" "1" "" "00802" "Anastasakis (escardio.org ID19 2396), Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209673" "" "" "" "1" "" "00802" "{PMID:Fidler:18662195}" "Functional data: decrease in connexin43 quantity, niormal N-cadherin and PKP2 positioning and expression" "" "" "" "" "0" "" "" "" "" "00209674" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209675" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209676" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209677" "" "" "" "3" "" "00802" "{DOI:Albuisson 2007:10.1093/eurheartj/ehm419}" "No familial segreation with Brugada syndrome" "" "" "" "" "0" "" "" "" "" "00209678" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209679" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209680" "" "" "" "1" "" "00802" "{PMID:Syrris:16415378}" "" "" "" "" "" "0" "" "" "" "" "00209681" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}" "" "" "" "" "" "0" "" "" "" "" "00209682" "" "" "" "1" "" "00802" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209683" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209684" "" "" "" "1" "" "00802" "escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209685" "" "" "" "7" "" "00802" "{PMID:Dalal 2006:16549640}" "" "" "" "" "" "0" "" "" "" "" "00209686" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209687" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209688" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209689" "" "" "" "3" "" "00802" "{PMID:Syrris:16415378}" "SCD; postmortem diagnosis: ARVC" "" "" "" "" "0" "" "" "" "" "00209690" "" "" "" "1" "" "00802" "{PMID:Nagaoka:16799251}" "" "" "" "" "" "0" "" "" "" "" "00209691" "" "" "" "6" "" "00802" "{PMID:Syrris:16415378}" "" "" "" "" "" "0" "" "" "" "" "00209692" "" "" "" "1" "" "00802" "{DOI:Albuisson 2007:10.1093/eurheartj/ehm419}" "No familial segreation with Brugada syndrome" "" "" "" "" "0" "" "" "" "" "00209693" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}, Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209694" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209695" "" "" "" "1" "" "00802" "{PMID:Syrris:16415378} , Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209696" "" "" "" "5" "" "00802" "{PMID:Syrris:16415378}" "" "" "" "" "" "0" "" "" "" "" "00209697" "" "" "" "3" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209698" "" "" "" "1" "" "00802" "{PMID:Fidler:18662195}" "Functional data: increased ectopic connexin43 expression, decreased N-cadherin and connexin43 colocalization" "" "" "" "" "0" "" "" "" "" "00209699" "" "" "" "1" "" "00802" "{PMID:Antoniades:16893920}, Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209700" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209701" "" "" "" "1" "" "00802" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209702" "" "" "" "1" "" "00802" "{PMID:Antoniades:16893920}, Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209703" "" "" "" "1" "" "00802" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209704" "" "" "" "4" "" "00802" "{PMID:Watkins:19880068}" "Founder mutation" "" "" "" "" "0" "" "" "" "" "00209705" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}" "" "" "" "" "" "0" "" "" "" "" "00209706" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209707" "" "" "" "2" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209708" "" "" "" "2" "" "00802" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209709" "" "" "" "1" "" "00802" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209710" "" "" "" "1" "" "00802" "Anastasakis (escardio.org ID19 2396), Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209711" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}" "" "" "" "" "" "0" "" "" "" "" "00209712" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "Found at frequency >1% in general population" "" "" "" "" "0" "" "" "" "" "00209713" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat13" "00209714" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}" "" "" "" "" "" "0" "" "" "" "" "00209715" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209716" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209717" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209718" "" "" "" "1" "" "00802" "{PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209719" "" "" "" "1" "" "00802" "{PMID:Kannankeril:16876743}" "2 related mutation-carriers are TFC-" "" "" "" "" "0" "" "" "" "" "00209720" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209721" "" "" "" "8" "" "00802" "{PMID:Syrris:16415378}" "From three different families" "" "" "" "" "0" "" "" "" "" "00209722" "" "" "" "2" "" "00802" "{PMID:Watkins:19880068}" "Severe form with early onset" "" "" "" "" "0" "" "" "" "" "00209723" "" "" "" "1" "" "00802" "{PMID:Syrris:17033975}, Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209724" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209725" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209726" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209727" "" "" "" "1" "" "00802" "{PMID:Syrris:16415378}, Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209728" "" "" "" "11" "" "00802" "{PMID:van Tintelen:16567567}" "From four different families" "" "" "" "" "0" "" "" "" "" "00209729" "" "" "" "1" "" "00802" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209730" "" "" "" "1" "" "00802" "" "From 2 Canadian families" "" "" "" "" "0" "" "" "" "" "00209731" "" "" "" "3" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209732" "" "" "" "2" "" "00802" "{PMID:Otterspoor:18167567}" "Sib SCD 18, ARVC on autospy" "" "" "" "" "0" "" "" "" "" "00209733" "" "" "" "1" "" "00802" "{PMID:Syrris:16415378} , Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209734" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209735" "" "" "" "1" "" "00802" "{PMID:Awad:17041889}" "autosomal recessive; causing cryptic splicing; heterozygous carriers show no signs of disease" "" "" "" "" "0" "" "" "" "" "00209736" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209737" "" "" "" "4" "" "00802" "{PMID:Bhuiyan:20031616}, van der Smagt" "From 3 families from same area" "" "" "" "" "0" "" "" "" "" "00209738" "" "" "" "1" "" "00802" "escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209739" "" "" "" "5" "" "00802" "{PMID:van Tintelen:16567567}" "From three different families" "" "" "" "" "0" "" "" "" "" "00209740" "" "" "" "3" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209741" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209742" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209743" "" "" "" "1" "" "00802" "{PMID:Antoniades:16893920}, Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209744" "" "" "00209824" "1" "" "00802" "{PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat06" "00209745" "" "" "" "3" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "" "00209746" "" "" "" "6" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209747" "" "" "" "2" "" "00802" "{PMID:van Tintelen:16567567}" "" "" "" "" "" "0" "" "" "" "" "00209748" "" "" "" "11" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209749" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209750" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209751" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209752" "" "" "" "6" "" "00802" "" "Compound heterozygote: PKP2 p.Gln133X and p.Thr872Ile" "" "" "" "" "0" "" "" "" "" "00209753" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209754" "" "" "" "1" "" "00802" "{PMID:Lahtinen:17521752}" "" "" "" "" "" "0" "" "" "" "" "00209755" "" "" "" "1" "" "00802" "{PMID:Lahtinen:17521752}" "" "" "" "" "" "0" "" "" "" "" "00209756" "" "" "" "1" "" "00802" "{PMID:Lahtinen:17521752}" "" "" "" "" "" "0" "" "" "" "" "00209757" "" "" "" "1" "" "00802" "{PMID:Asimaki:19279339}" "SCD at age 22" "" "" "" "" "0" "" "" "" "" "00209758" "" "" "" "1" "" "00802" "{PMID:Asimaki:19279339}" "SCD at age 37" "" "" "" "" "0" "" "" "" "" "00209759" "" "" "" "4" "" "00802" "{PMID:Wu:19302745}" "" "" "" "" "" "0" "" "" "" "" "00209760" "" "" "" "1" "" "00802" "{PMID:Wu:19302745}" "" "" "" "" "" "0" "" "" "" "" "00209761" "" "" "" "1" "" "00802" "{PMID:Wu:19302745}" "" "" "" "" "" "0" "" "" "" "" "00209762" "" "" "" "1" "" "00802" "{PMID:Wu:19302745}" "" "" "" "" "" "0" "" "" "" "" "00209763" "" "" "" "1" "" "00802" "{PMID:Wu:19302745}" "" "" "" "" "" "0" "" "" "" "" "00209764" "" "" "" "3" "" "00802" "{PMID:Tandri:18554203}" "Underwent heart transplantation" "" "" "" "" "0" "" "" "" "" "00209765" "" "" "" "3" "" "00802" "{PMID:Dalal 2009:19358943}" "" "" "" "" "" "0" "" "" "" "" "00209766" "" "" "" "1" "" "00802" "{PMID:Qiu:19427443}" "Fulfills modified TFC Criteria" "" "" "" "" "0" "" "" "" "" "00209767" "" "" "" "1" "" "00802" "{PMID:Qiu:19427443}" "" "" "" "" "" "0" "" "" "" "" "00209768" "" "" "" "1" "" "00802" "{PMID:Qiu:19427443}" "" "" "" "" "" "0" "" "" "" "" "00209769" "" "" "" "1" "" "00802" "{PMID:Qiu:19427443}" "" "" "" "" "" "0" "" "" "" "" "00209770" "" "" "" "3" "" "00802" "{PMID:Qiu:19427443}" "Mutation found in 3 unrelated individuals" "" "" "" "" "0" "" "" "" "" "00209771" "" "" "" "6" "" "00802" "Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209772" "" "" "" "2" "" "00802" "Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" "" "00209773" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "MAF: 0.9%" "" "" "" "" "0" "" "" "" "" "00209774" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209775" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209776" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209777" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209778" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209779" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209780" "" "" "" "1" "" "00802" "escardio.org (ID24&id=4371:Rampazzo}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}" "" "M" "" "" "" "0" "" "" "" "20152563-Pat16" "00209781" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209782" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209783" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209784" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209785" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "1 major and 1 minor TFC" "" "" "" "" "0" "" "" "" "" "00209786" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209787" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209788" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209789" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "Controls were only tested for novel c.2145+1G>C mutation" "" "" "" "" "0" "" "" "" "" "00209790" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209791" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209792" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209793" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}, {PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209794" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209795" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209796" "" "" "" "1" "" "00802" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}" "" "" "" "" "" "0" "" "" "" "" "00209797" "" "" "" "1" "" "00802" "" "Found once in 400 patients" "" "" "" "" "0" "" "" "" "" "00209798" "" "" "" "1" "" "00802" "" "Found once in 400 patients" "" "" "" "" "0" "" "" "" "" "00209799" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209800" "" "" "" "1" "" "00802" "{PMID:Krahn:19597050}" "Cardiac arrest survivor" "" "" "" "" "0" "" "" "" "" "00209801" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209802" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209803" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209804" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209805" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209806" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209807" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "Found at frequency >1% in general population" "" "" "" "" "0" "" "" "" "" "00209808" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "" "" "" "" "" "0" "" "" "" "" "00209809" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "" "" "" "" "" "0" "" "" "" "" "00209810" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "Found at frequency >1% in general population" "" "" "" "" "0" "" "" "" "" "00209811" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "" "" "" "" "" "0" "" "" "" "" "00209812" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "" "" "" "" "" "0" "" "" "" "" "00209813" "" "" "" "1" "" "00802" "{PMID:Watkins:19880068}" "Found at frequency >1% in general population" "" "" "" "" "0" "" "" "" "" "00209814" "" "" "" "1" "" "00802" "{PMID:Christensen:19955750}" "" "" "" "" "" "0" "" "" "" "" "00209815" "" "" "" "1" "" "00802" "{PMID:Christensen:19955750}" "" "" "" "" "" "0" "" "" "" "" "00209816" "" "" "" "1" "" "00802" "{PMID:Christensen:19955750}" "The pathogeneity cannot be established with certainty due to lack of change in amino acid polarity." "" "" "" "" "0" "" "" "" "" "00209817" "" "" "" "1" "" "00802" "{PMID:Christensen:19955750}" "Predicted to abolish the highly conserved splice acceptor site and introduces a cryptic splice acceptor site further downstream." "" "" "" "" "0" "" "" "" "" "00209818" "" "" "" "3" "" "00802" "{PMID:Christensen:19955750}" "D26N: Found in 3 patients (p=0.05); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role." "" "" "" "" "0" "" "" "" "" "00209819" "" "" "" "2" "" "00802" "{PMID:Christensen:19955750}" "A clinically affected brother of one patient does not carrry the mutation. The pathogeneity cannot be established with certainty due to lack of change in amino acid polarity." "" "" "" "" "0" "" "" "" "" "00209820" "" "" "" "1" "" "00802" "{PMID:Christensen:19955750}" "" "" "" "" "" "0" "" "" "" "" "00209821" "" "" "" "3" "" "00802" "{PMID:Christensen:19955750}" "Found in 3 patients (p=0.02); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role." "" "" "" "" "0" "" "" "" "" "00209822" "" "" "" "1" "" "00802" "{PMID:Christensen:19955750}" "The pathogeneity cannot be established with certainty due to location in a nonconserved region." "" "" "" "" "0" "" "" "" "" "00209823" "" "" "" "1" "" "00802" "{PMID:Christensen:19955750}" "Found in 1 of 53 patients (p=0.27); may reflect that this mutation is a susceptibility mutation or has a disease-modifying role." "" "" "" "" "0" "" "" "" "" "00209824" "" "" "" "2" "" "00802" "{PMID:Xu 2010:20152563}" "family, 2 affected" "F" "" "United States" "" "0" "" "" "" "20152563-Pat05" "00209825" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209826" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "" "" "" "" "" "0" "" "" "" "" "00209827" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209828" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209829" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209830" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209831" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209832" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209833" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209834" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209835" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209836" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209837" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209838" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209839" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209840" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209841" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209842" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209843" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209844" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209845" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209846" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209847" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209848" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209849" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209850" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209851" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209852" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209853" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209854" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209855" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209856" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209857" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209858" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209859" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209860" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209861" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209862" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209863" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209864" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209865" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209866" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209867" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209868" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209869" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209870" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209871" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209872" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209873" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209874" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209875" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209876" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209877" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209878" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209879" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209880" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209881" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209882" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209883" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209884" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209885" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209886" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209887" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209888" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209889" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209890" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209891" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209892" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209893" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209894" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209895" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209896" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209897" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209898" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209899" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209900" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209901" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209902" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209903" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209904" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209905" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209906" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209907" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209908" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209909" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209910" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209911" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209912" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209913" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209914" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209915" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209916" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209917" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209918" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209919" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209920" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209921" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209922" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209923" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209924" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209925" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209926" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209927" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209928" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209929" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209930" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209931" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209932" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209933" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209934" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209935" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209936" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209937" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209938" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209939" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209940" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209941" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209988" "" "" "" "5" "" "00006" "{PMID:Bauce 2010:20129281}" "2-generation family, 5 affected (F, 4M)" "F" "" "Italy" "" "0" "" "" "" "20129281-Fam104PatII7" "00209989" "" "" "" "9" "" "00006" "{PMID:Bauce 2010:20129281}" "5-generation family, 9 affected (3F, 9M)" "M" "" "Italy" "" "0" "" "" "" "20129281-Fam100PatIV-16" "00209990" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "M" "" "Italy" "" "0" "" "" "" "20152563-Pat15" "00209991" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat12" "00209992" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "F" "" "United States" "" "0" "" "" "" "20152563-Pat11" "00209994" "" "" "" "2" "" "00006" "{PMID:Xu 2010:20152563}" "family, 2 affected" "M" "" "United States" "" "0" "" "" "" "20152563-Pat09" "00209995" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat08" "00209996" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat07" "00209997" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat04" "00290679" "" "" "" "230" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290680" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290681" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290682" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290683" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290684" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304350" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305389" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "153960" "00305390" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "158590" "00305394" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "156490" "00305395" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "161029" "00305396" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "156156" "00316892" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316893" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317032" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317033" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317034" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317035" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317036" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317037" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom 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"" "" "United States" "" "0" "" "" "" "BAV338" "00453780" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV950" "00453781" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV952" "00469228" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470601" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat230" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 477 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00016374" "00352" "00028976" "04170" "00028978" "04170" "00028984" "04170" "00028987" "04170" "00028993" "04170" "00058467" "00365" "00058469" "00365" "00064032" "05158" "00064033" "05158" "00064035" "05158" "00064036" "05158" "00064079" "00351" "00064085" "00351" "00064094" "00351" "00064115" "00351" "00064149" "00351" "00064161" "00351" "00064163" "00351" "00064201" "00351" "00064717" "05166" "00064730" "05166" "00064738" "05166" "00064760" 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"00198" "00209894" "00198" "00209895" "00198" "00209896" "00198" "00209897" "00198" "00209898" "00198" "00209899" "00198" "00209900" "00198" "00209901" "00198" "00209902" "00198" "00209903" "00198" "00209904" "00198" "00209905" "00198" "00209906" "00198" "00209907" "00198" "00209908" "00198" "00209909" "00198" "00209910" "00198" "00209911" "00198" "00209912" "00198" "00209913" "00198" "00209914" "00198" "00209915" "00198" "00209916" "00198" "00209917" "00198" "00209918" "00198" "00209919" "00198" "00209920" "00198" "00209921" "00198" "00209922" "00198" "00209923" "00198" "00209924" "00198" "00209925" "00198" "00209926" "00198" "00209927" "00198" "00209928" "00198" "00209929" "00198" "00209930" "00198" "00209931" "00198" "00209932" "00198" "00209933" "00198" "00209934" "00198" "00209988" "05099" "00209989" "05099" "00209990" "05099" "00209991" "05099" "00209992" "05099" "00209994" "05099" "00209995" "05099" "00209996" "05099" "00209997" "05099" "00290679" "00198" "00290680" "00198" "00290681" "00198" "00290682" "00198" "00290683" "00198" "00290684" "00198" "00304350" "00198" "00305389" "00860" "00305390" "01410" "00305394" "02436" "00305395" "05521" "00305396" "02436" "00316892" "04172" "00316893" "04172" "00317032" "04172" "00317033" "04172" "00317034" "04172" "00317035" "04172" "00317036" "04172" "00317037" "04172" "00317038" "04172" "00317039" "04172" "00317040" "04172" "00317041" "04172" "00317042" "04172" "00317043" "04172" "00317044" "04172" "00317045" "04172" "00317046" "04172" "00317047" "04172" "00317048" "04172" "00317049" "04172" "00317050" "04172" "00317051" "04172" "00317052" "04172" "00317053" "04172" "00317054" "04172" "00317055" "04172" "00317056" "04172" "00317057" "04172" "00317058" "04172" "00317059" "04172" "00317060" "04172" "00317061" "04172" "00317062" "04172" "00317063" "04172" "00317064" "04172" "00317065" "04172" "00317066" "04172" "00317067" "04172" "00317068" "04172" "00317069" "04172" "00317070" "04172" "00317071" "04172" "00317072" "04172" "00317073" "04172" "00317074" "04172" "00317075" "04172" "00317076" "04172" "00317859" "04172" "00317860" "04172" "00317861" "04172" "00317862" "04172" "00317863" "04172" "00320284" "04172" "00320288" "04172" "00324136" "05540" "00372759" "00198" "00417678" "05158" "00417679" "05158" "00417684" "05158" "00419553" "00198" "00428181" "06989" "00428182" "06989" "00428183" "06989" "00428184" "06989" "00446861" "04173" "00453146" "04172" "00453237" "04172" "00453238" "04172" "00453239" "04172" "00453779" "00152" "00453780" "00152" "00453781" "00152" "00469228" "00198" "00470601" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00351, 00352, 00364, 00365, 00860, 01157, 01410, 02087, 02436, 04170, 04172, 04173, 05099, 05158, 05166, 05521, 05540, 06989 ## Count = 464 "{{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}}" "0000014973" "00352" "00016374" "00006" "Unknown" "" "mild DCM, 1 case peripartum cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000025004" "00118" "00028976" "00066" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000045098" "00365" "00058467" "00006" "Unknown" "" "1 case mild DCM" "" "" "" "" "" "" "" "" "" "" "" "0000045100" "00365" "00058469" "00006" "Familial" "" "2 cases mild DCM, 2 cases peripartum cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000050550" "05158" "00064032" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050551" "05158" "00064033" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050553" "05158" "00064035" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050554" "05158" "00064036" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050595" "00351" "00064079" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050601" "00351" "00064085" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050610" "00351" "00064094" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050631" "00351" "00064115" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050665" "00351" "00064149" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050677" "00351" "00064161" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050679" "00351" "00064163" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050717" "00351" "00064201" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050919" "02087" "00064760" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051263" "05166" "00064717" "01601" "Unknown" "" "sudden unexplained death" "" "" "" "" "" "" "" "" "" "" "" "0000051264" "05166" "00064730" "01601" "Unknown" "" "sudden unexplained death" "" "" "" "" "" "" "" "" "" "" "" "0000051265" "05166" "00064738" "01601" "Unknown" "" "sudden unexplained death" "" "" "" "" "" "" "" "" "" "" "" "0000053477" "00352" "00073726" "00006" "Unknown" "" "no family hostory; ventricular septal defect (HP:0001629)" "" "03y" "" "" "" "" "" "" "" "" "" "0000053478" "00352" "00073727" "00006" "Familial" "" "" "" "08y" "" "" "" "" "" "" "" "" "" "0000079606" "00364" "00101400" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079610" "00364" "00101404" "00006" "Familial" "" "right ventricular involvement, positive family history" "" "" "" "" "" "" "" "" "" "" "" "0000079616" "00364" "00101410" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079625" "00364" "00101419" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079626" "00364" "00101420" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079629" "00364" "00101423" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079640" "00364" "00101434" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079641" "00364" "00101435" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079643" "00364" "00101437" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079644" "00364" "00101438" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079647" "00364" "00101441" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079649" "00364" "00101443" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia, see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000079651" "00364" "00101445" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079653" "00364" "00101447" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000079654" "00364" "00101448" "00006" "Unknown" "" "Arrhythmogenic Right Ventricular Dysplasia" "" "" "" "" "" "" "" "" "" "" "" "0000100655" "00198" "00128436" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100696" "00198" "00128474" "02244" "Unknown" "0d" "" "" "0" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100712" "00198" "00128488" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000116539" "05099" "00143769" "02335" "Familial" "51y" "suspected ARVD/C" "" "" "" "" "" "" "" "" "" "" "" "0000127688" "00198" "00154956" "01807" "Unknown" "" "Right ventricular cardiomyopathy (HP:0011663); Ventricular arrhythmia (HP:0004308)" "" "" "" "" "" "" "" "" "" "" "" "0000127691" "00198" "00154959" "01807" "Unknown" "" "Right ventricular cardiomyopathy (HP:0011663); Ventricular arrhythmia (HP:0004308)" "" "" "" "" "" "" "" "" "" "" "" "0000129002" "00351" "00163890" "02438" "Familial, autosomal dominant" "51y" "" "" "46y" "" "" "" "" "" "" "" "" "" "0000143189" "05166" "00180910" "01601" "Unknown" "" "sudden death with arrythmogenic right ventricular cardiomyopathy (ARVC) diagnosed at autopsy" "" "" "" "" "" "" "" "" "" "sudden unexplained death" "" "0000157704" "05099" "00209098" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "0000157796" "05099" "00209190" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive, reported to have a \'severe\' phenotype" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157835" "05099" "00209229" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157843" "05099" "00209237" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157844" "05099" "00209238" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157957" "05099" "00209358" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive, severe phenotype" "" "" "" "" "" "" "" "" "ARVD" "ARVD/C" "" "0000158013" "05099" "00209414" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158034" "05099" "00209435" "00802" "Unknown" "" "see paper; ARVD/C, Task Force Criteria positive, ..." "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158035" "05099" "00209436" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158039" "05099" "00209440" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158040" "05158" "00209441" "03133" "Unknown" "" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "" "" "" "ARVD-8" "arrhythmogenic right ventricular cardiomyopathy" "" "0000158218" "05099" "00209619" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158219" "00198" "00209620" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158220" "05099" "00209621" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158221" "05099" "00209622" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158222" "05099" "00209623" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158223" "05099" "00209624" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158224" "05099" "00209625" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158225" "05099" "00209626" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158226" "05099" "00209627" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158227" "05099" "00209628" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158228" "05099" "00209629" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158229" "00198" "00209630" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158230" "00198" "00209631" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158231" "00198" "00209632" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158232" "00198" "00209633" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158233" "00198" "00209634" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158234" "05099" "00209635" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158235" "05099" "00209636" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158236" "05099" "00209637" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158237" "05099" "00209638" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158238" "05099" "00209639" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158239" "05099" "00209640" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158240" "00198" "00209641" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158241" "05099" "00209642" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158242" "05099" "00209643" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158243" "05099" "00209644" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158244" "05099" "00209645" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158245" "05099" "00209646" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158246" "04172" "00209647" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "ARVD-9" "left-dominant arrhythmogenic cardiomyopathy" "" "0000158247" "00198" "00209648" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158248" "05099" "00209649" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158249" "00198" "00209650" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158250" "00198" "00209651" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158251" "00198" "00209652" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158252" "00198" "00209653" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158253" "00198" "00209654" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158254" "05099" "00209655" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158255" "00198" "00209656" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158256" "00198" "00209657" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158257" "05099" "00209658" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158258" "00198" "00209659" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158259" "00198" "00209660" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158260" "05099" "00209661" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158261" "00198" "00209662" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158262" "00198" "00209663" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158263" "05099" "00209664" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158264" "05099" "00209665" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158265" "05099" "00209666" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158266" "05099" "00209667" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158267" "05099" "00209668" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158268" "05099" "00209669" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158269" "00198" "00209670" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158270" "05099" "00209671" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158271" "05099" "00209672" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158272" "00198" "00209673" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158273" "00198" "00209674" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158274" "00198" "00209675" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158275" "00198" "00209676" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158276" "04170" "00209677" "00802" "Unknown" "" "Brugada Syndrome" "" "" "" "" "" "" "" "" "ARVD-9" "Brugada Syndrome" "" "0000158277" "00198" "00209678" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158278" "05099" "00209679" "00802" "Unknown" "" "ARVD, Task Force Criteria negative, arrhythmia" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158279" "05540" "00209680" "00802" "Unknown" "" "ARVD, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "arrhythmogenic right ventricular dysplasia" "" "0000158280" "05099" "00209681" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158281" "05099" "00209682" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158282" "00198" "00209683" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158283" "05099" "00209684" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158284" "05099" "00209685" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158285" "00198" "00209686" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158286" "00198" "00209687" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158287" "00198" "00209688" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158288" "05099" "00209689" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158289" "05099" "00209690" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158290" "05099" "00209691" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158291" "04170" "00209692" "00802" "Unknown" "" "Brugada Syndrome" "" "" "" "" "" "" "" "" "ARVD-9" "Brugada Syndrome" "" "0000158292" "05540" "00209693" "00802" "Unknown" "" "ARVD, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "arrhythmogenic right ventricular dysplasia" "" "0000158293" "00198" "00209694" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158294" "05099" "00209695" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158295" "05099" "00209696" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158296" "05099" "00209697" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158297" "00198" "00209698" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158298" "05099" "00209699" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158299" "05099" "00209700" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158300" "05099" "00209701" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158301" "05099" "00209702" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158302" "05099" "00209703" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158303" "05099" "00209704" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158304" "05099" "00209705" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158305" "05099" "00209706" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158306" "05099" "00209707" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158307" "05099" "00209708" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158308" "05099" "00209709" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158309" "05099" "00209710" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158310" "05540" "00209711" "00802" "Unknown" "" "ARVD, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "arrhythmogenic right ventricular dysplasia" "" "0000158311" "00198" "00209712" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158312" "05099" "00209713" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158313" "05099" "00209714" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158314" "05099" "00209715" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158315" "05099" "00209716" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158316" "05099" "00209717" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158317" "05099" "00209718" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158318" "05099" "00209719" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158319" "05099" "00209720" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158320" "05099" "00209721" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158321" "05099" "00209722" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158322" "05099" "00209723" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158323" "00198" "00209724" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158324" "00198" "00209725" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158325" "00198" "00209726" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158326" "05099" "00209727" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158327" "05099" "00209728" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158328" "05099" "00209729" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158329" "00198" "00209730" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158330" "05099" "00209731" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158331" "05099" "00209732" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158332" "05099" "00209733" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158333" "05099" "00209734" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158334" "05099" "00209735" "00802" "Familial, autosomal recessive" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158335" "00198" "00209736" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158336" "05099" "00209737" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158337" "05099" "00209738" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158338" "05099" "00209739" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158339" "05099" "00209740" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158340" "05099" "00209741" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158341" "00198" "00209742" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158342" "05099" "00209743" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158343" "05099" "00209744" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158344" "05099" "00209745" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158345" "05099" "00209746" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158346" "05099" "00209747" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158347" "05099" "00209748" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158348" "00198" "00209749" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158349" "00198" "00209750" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158350" "00198" "00209751" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158351" "05099" "00209752" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158352" "05099" "00209753" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158353" "00198" "00209754" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158354" "00198" "00209755" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158355" "00198" "00209756" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158356" "05099" "00209757" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158357" "05099" "00209758" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158358" "05099" "00209759" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158359" "05099" "00209760" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158360" "05099" "00209761" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158361" "05099" "00209762" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158362" "05099" "00209763" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158363" "05099" "00209764" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158364" "05540" "00209765" "00802" "Unknown" "" "ARVD, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "arrhythmogenic right ventricular dysplasia" "" "0000158365" "05099" "00209766" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158366" "05099" "00209767" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158367" "05099" "00209768" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158368" "05099" "00209769" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158369" "05099" "00209770" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158370" "05099" "00209771" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158371" "05099" "00209772" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158372" "05099" "00209773" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158373" "05099" "00209774" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158374" "05099" "00209775" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158375" "05099" "00209776" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158376" "05099" "00209777" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158377" "05099" "00209778" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158378" "05099" "00209779" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158379" "05099" "00209780" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158380" "05099" "00209781" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158381" "05099" "00209782" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158382" "05099" "00209783" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158383" "05099" "00209784" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158384" "05540" "00209785" "00802" "Unknown" "" "ARVD, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-9" "arrhythmogenic right ventricular dysplasia" "" "0000158385" "00198" "00209786" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158386" "00198" "00209787" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158387" "05099" "00209788" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158388" "05099" "00209789" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158389" "05099" "00209790" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158390" "05540" "00209791" "00802" "Unknown" "" "ARVD, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "arrhythmogenic right ventricular dysplasia" "" "0000158391" "00198" "00209792" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158392" "05099" "00209793" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158393" "05099" "00209794" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158394" "05099" "00209795" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158395" "05099" "00209796" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158396" "00198" "00209797" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158397" "00198" "00209798" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158398" "05099" "00209799" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158399" "05099" "00209800" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158400" "05099" "00209801" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158401" "05099" "00209802" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158402" "05099" "00209803" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158403" "05099" "00209804" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158404" "05099" "00209805" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158405" "05099" "00209806" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158406" "00198" "00209807" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158407" "05099" "00209808" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158408" "05099" "00209809" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158409" "00198" "00209810" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158410" "05099" "00209811" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158411" "05099" "00209812" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158412" "00198" "00209813" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158413" "05099" "00209814" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158414" "05099" "00209815" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158415" "05099" "00209816" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158416" "05099" "00209817" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158417" "05099" "00209818" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158418" "05099" "00209819" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158419" "05099" "00209820" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158420" "05099" "00209821" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158421" "05099" "00209822" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158422" "05099" "00209823" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158423" "05099" "00209824" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158424" "05099" "00209825" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158425" "00198" "00209826" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158426" "00198" "00209827" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158427" "00198" "00209828" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158428" "00198" "00209829" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158429" "00198" "00209830" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158430" "00198" "00209831" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158431" "00198" "00209832" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158432" "00198" "00209833" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158433" "00198" "00209834" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158434" "00198" "00209835" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158435" "00198" "00209836" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158436" "00198" "00209837" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158437" "00198" "00209838" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158438" "00198" "00209839" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158439" "00198" "00209840" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158440" "00198" "00209841" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158441" "00198" "00209842" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158442" "00198" "00209843" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158443" "00198" "00209844" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158444" "00198" "00209845" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158445" "00198" "00209846" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158446" "00198" "00209847" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158447" "00198" "00209848" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158448" "00198" "00209849" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158449" "00198" "00209850" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158450" "00198" "00209851" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158451" "00198" "00209852" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158452" "00198" "00209853" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158453" "00198" "00209854" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158454" "00198" "00209855" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158455" "00198" "00209856" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158456" "00198" "00209857" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158457" "00198" "00209858" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158458" "00198" "00209859" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158459" "00198" "00209860" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158460" "00198" "00209861" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158461" "00198" "00209862" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158462" "00198" "00209863" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158463" "00198" "00209864" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158464" "00198" "00209865" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158465" "00198" "00209866" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158466" "00198" "00209867" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158467" "00198" "00209868" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158468" "00198" "00209869" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158469" "00198" "00209870" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158470" "00198" "00209871" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158471" "00198" "00209872" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158472" "00198" "00209873" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158473" "00198" "00209874" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158474" "00198" "00209875" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158475" "00198" "00209876" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158476" "00198" "00209877" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158477" "00198" "00209878" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158478" "00198" "00209879" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158479" "00198" "00209880" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158480" "00198" "00209881" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158481" "00198" "00209882" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158482" "00198" "00209883" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158483" "00198" "00209884" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158484" "00198" "00209885" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158485" "00198" "00209886" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158486" "00198" "00209887" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158487" "00198" "00209888" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158488" "00198" "00209889" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158489" "00198" "00209890" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158490" "00198" "00209891" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158491" "00198" "00209892" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158492" "00198" "00209893" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158493" "00198" "00209894" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158494" "00198" "00209895" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158495" "00198" "00209896" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158496" "00198" "00209897" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158497" "00198" "00209898" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158498" "00198" "00209899" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158499" "00198" "00209900" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158500" "00198" "00209901" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158501" "00198" "00209902" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158502" "00198" "00209903" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158503" "00198" "00209904" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158504" "00198" "00209905" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158505" "00198" "00209906" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158506" "00198" "00209907" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158507" "00198" "00209908" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158508" "00198" "00209909" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158509" "00198" "00209910" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158510" "00198" "00209911" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158511" "00198" "00209912" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158512" "00198" "00209913" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158513" "00198" "00209914" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158514" "00198" "00209915" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158515" "00198" "00209916" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158516" "00198" "00209917" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158517" "00198" "00209918" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158518" "00198" "00209919" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158519" "00198" "00209920" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158520" "00198" "00209921" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158521" "00198" "00209922" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158522" "00198" "00209923" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158523" "00198" "00209924" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158524" "00198" "00209925" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158525" "00198" "00209926" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158526" "00198" "00209927" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158527" "00198" "00209928" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158528" "00198" "00209929" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158529" "00198" "00209930" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158530" "00198" "00209931" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158531" "00198" "00209932" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158532" "00198" "00209933" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158533" "00198" "00209934" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158534" "00198" "00209935" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158535" "00198" "00209936" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158536" "00198" "00209937" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158537" "00198" "00209938" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158538" "00198" "00209939" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158539" "00198" "00209940" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158540" "00198" "00209941" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158587" "05099" "00209988" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "ARVD-10" "arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)" "" "0000158588" "05099" "00209989" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "ARVD-10" "arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)" "" "0000158589" "05099" "00209990" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000158590" "05099" "00209991" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000158591" "05099" "00209992" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000158593" "05099" "00209995" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000158594" "05099" "00209996" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000158595" "05099" "00209997" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000231239" "00860" "00305389" "01164" "Unknown" "33y" "Spina bifida" "" "" "" "" "" "" "" "" "" "" "" "0000231243" "01410" "00305390" "01164" "Unknown" "26y" "hyperekplexia syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000231244" "02436" "00305394" "01164" "Unknown" "43y" "Increasing muscle weakness, cramps" "" "" "" "" "" "" "" "" "" "" "" "0000231245" "05521" "00305395" "01164" "Unknown" "" "Epilepsy, partly fever-related seizures" "" "" "" "" "" "" "" "" "" "" "" "0000231246" "02436" "00305396" "01164" "Unknown" "" "Muscle stiffness, muscle pain in the legs, left hip flexor paresis" "" "" "38y" "" "" "" "" "" "" "" "" "0000240638" "04172" "00316892" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240639" "04172" "00316893" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240778" "04172" "00317032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240779" "04172" "00317033" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240780" "04172" "00317034" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240781" "04172" "00317035" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240782" "04172" "00317036" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240783" "04172" "00317037" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240784" "04172" "00317038" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240785" "04172" "00317039" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240786" "04172" "00317040" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240787" "04172" "00317041" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240788" "04172" "00317042" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240789" "04172" "00317043" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240790" "04172" "00317044" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240791" "04172" "00317045" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240792" "04172" "00317046" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240793" "04172" "00317047" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240794" "04172" "00317048" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240795" "04172" "00317049" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240796" "04172" "00317050" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240797" "04172" "00317051" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240798" "04172" "00317052" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240799" "04172" "00317053" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240800" "04172" "00317054" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240801" "04172" "00317055" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240802" "04172" "00317056" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240803" "04172" "00317057" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240804" "04172" "00317058" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240805" "04172" "00317059" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240806" "04172" "00317060" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240807" "04172" "00317061" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240808" "04172" "00317062" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240809" "04172" "00317063" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240810" "04172" "00317064" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240811" "04172" "00317065" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240812" "04172" "00317066" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240813" "04172" "00317067" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240814" "04172" "00317068" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240815" "04172" "00317069" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240816" "04172" "00317070" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240817" "04172" "00317071" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240818" "04172" "00317072" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240819" "04172" "00317073" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240820" "04172" "00317074" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240821" "04172" "00317075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240822" "04172" "00317076" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000241605" "04172" "00317859" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241606" "04172" "00317860" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241607" "04172" "00317861" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241608" "04172" "00317862" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241609" "04172" "00317863" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000242312" "04172" "00320284" "00006" "Unknown" "29y" "see paper; ..., survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000242316" "04172" "00320288" "00006" "Unknown" "24y" "see paper; ..., survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000242719" "05540" "00324136" "03288" "Familial, autosomal dominant" "13y" "" "" "13y" "" "" "" "" "" "" "" "Sudden Cardiac Death" "" "0000268036" "00198" "00372759" "01807" "Unknown" "" "Ventricular tachycardia (HP:0004756); Aborted sudden cardiac death (HP:0031628)" "" "" "" "" "" "" "" "" "" "" "" "0000310834" "00198" "00419553" "02300" "Isolated (sporadic)" "45y" "" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000319099" "06989" "00428181" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip" "" "0000319100" "06989" "00428182" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip" "" "0000319101" "06989" "00428183" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bilateral non-syndromic cleft lip and palate" "" "0000319102" "06989" "00428184" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndromic cleft palate" "" "0000336065" "04173" "00446861" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341792" "04172" "00453146" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341883" "04172" "00453237" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341884" "04172" "00453238" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341885" "04172" "00453239" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000342436" "00152" "00453779" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342437" "00152" "00453780" "00006" "Unknown" "" "aortic valve replacement and aortic root replacement" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342438" "00152" "00453781" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000354381" "00198" "00469228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the cardiovascular system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 484 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000016312" "00016374" "1" "00006" "00006" "2014-03-30 03:05:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000029017" "00028976" "1" "00066" "00066" "2015-01-12 12:10:23" "" "" "SEQ" "DNA" "" "" "0000029019" "00028978" "1" "00066" "00066" "2015-01-12 15:50:31" "" "" "SEQ-NG-S" "DNA" "" "" "0000029025" "00028984" "1" "00066" "00066" "2015-01-12 16:28:19" "" "" "SEQ" "DNA" "" "" "0000029028" "00028987" "1" "00066" "00066" "2015-01-13 09:14:15" "" "" "SEQ-NG-S" "DNA" "" "" "0000029034" "00028993" "1" "00066" "00066" "2015-01-13 16:52:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000058430" "00058467" "1" "00006" "00006" "2014-03-29 23:50:36" "00006" "2016-01-27 00:26:23" "SEQ-NG-I" "DNA" "" "" "0000058432" "00058469" "1" "00006" "00006" "2014-03-29 23:50:36" "00006" "2016-01-26 23:55:50" "SEQ-NG-I" "DNA" "" "" "0000064164" "00064032" "1" "00006" "00006" "2016-04-19 22:06:14" "" "" "SEQ" "DNA" "" "" "0000064165" "00064033" "1" "00006" "00006" "2016-04-19 22:24:31" "" "" "SEQ" "DNA" "" "" "0000064167" "00064035" "1" "00006" "00006" "2016-04-19 23:06:00" "" "" "SEQ" "DNA" "" "" "0000064168" "00064036" "1" "00006" "00006" "2016-04-19 23:11:48" "" "" "SEQ" "DNA" "" "" "0000064212" "00064079" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064218" "00064085" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064227" "00064094" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064248" "00064115" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064282" "00064149" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064294" "00064161" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064296" "00064163" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064334" "00064201" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064856" "00064717" "1" "01601" "01601" "2016-05-10 11:52:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000064869" "00064730" "1" "01601" "01601" "2016-05-10 12:35:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000064877" "00064738" "1" "01601" "01601" "2016-05-10 12:57:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000064901" "00064760" "1" "01602" "01602" "2016-05-11 14:50:44" "01602" "2016-05-19 13:26:37" "SEQ-NG-I" "DNA" "" "" "0000073886" "00073726" "1" "00006" "00006" "2016-06-18 19:16:30" "" "" "SEQ" "DNA" "" "" "0000073887" "00073727" "1" "00006" "00006" "2016-06-18 19:19:31" "" "" "SEQ" "DNA" "" "" "0000100843" "00100438" "1" "01915" "01915" "2017-02-24 11:42:45" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000100844" "00100439" "1" "01915" "01915" "2017-02-24 11:57:50" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000101847" "00101400" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101851" "00101404" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101857" "00101410" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101866" "00101419" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101867" "00101420" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101870" "00101423" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101881" "00101434" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101882" "00101435" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101884" "00101437" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101885" "00101438" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101888" "00101441" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101890" "00101443" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101892" "00101445" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101894" "00101447" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000101895" "00101448" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000129274" "00128436" "1" "02244" "02244" "2017-09-15 17:06:16" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129312" "00128474" "1" "02244" "02244" "2017-09-15 18:29:33" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129326" "00128488" "1" "02244" "02244" "2017-09-15 19:04:29" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000144628" "00143769" "1" "02335" "02335" "2017-12-05 13:09:59" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000155817" "00154956" "0" "01807" "01807" "2018-03-07 03:58:38" "" "" "SEQ" "DNA" "" "" "0000155820" "00154959" "0" "01807" "01807" "2018-03-07 04:00:28" "" "" "SEQ" "DNA" "" "" "0000164754" "00163890" "1" "02438" "02438" "2018-04-22 19:09:54" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000181846" "00180910" "1" "01601" "01601" "2018-09-10 13:59:21" "01601" "2018-09-10 14:18:12" "SEQ-NG-I" "DNA" "" "100 genes associated with cardiac diseases" "0000208997" "00207952" "1" "01164" "01164" "2018-12-04 16:43:50" "" "" "SEQ-NG" "DNA" "" "" "0000210155" "00209098" "1" "00802" "00802" "2009-11-03 16:08:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210247" "00209190" "1" "00802" "00802" "2009-01-22 16:26:54" "00802" "2010-02-05 14:01:17" "SEQ" "DNA" "" "" "0000210286" "00209229" "1" "00802" "00802" "2009-04-29 12:34:13" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210294" "00209237" "1" "00802" "00802" "2009-06-18 14:46:04" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210295" "00209238" "1" "00802" "00802" "2009-06-18 14:52:13" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210305" "00209248" "1" "03133" "00802" "2013-01-04 12:31:36" "" "" "SEQ" "DNA" "" "" "0000210415" "00209358" "1" "00802" "00802" "2009-01-28 11:16:24" "00802" "2010-02-05 15:05:22" "SEQ" "DNA" "" "" "0000210471" "00209414" "1" "00802" "00802" "2009-06-17 15:48:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210492" "00209435" "1" "00802" "00802" "2010-02-05 14:15:57" "" "" "SEQ" "DNA" "" "" "0000210493" "00209436" "1" "00802" "00802" "2010-02-05 14:19:21" "" "" "SEQ" "DNA" "" "" "0000210497" "00209440" "1" "00802" "00802" "2010-03-11 09:28:41" "" "" "SEQ" "DNA" "" "" "0000210498" "00209441" "1" "03133" "00802" "2013-01-04 13:14:28" "" "" "SEQ" "DNA" "" "" "0000210676" "00209619" "1" "00802" "00802" "2009-01-30 14:59:24" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210677" "00209620" "1" "00802" "00802" "2009-01-30 15:01:07" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210678" "00209621" "1" "00802" "00802" "2009-01-30 15:05:53" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210679" "00209622" "1" "00802" "00802" "2009-01-30 15:09:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210680" "00209623" "1" "00802" "00802" "2009-01-30 15:12:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210681" "00209624" "1" "00802" "00802" "2009-01-30 15:20:06" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210682" "00209625" "1" "00802" "00802" "2009-01-30 15:21:21" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210683" "00209626" "1" "00802" "00802" "2009-01-30 15:29:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210684" "00209627" "1" "00802" "00802" "2009-01-30 15:36:52" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210685" "00209628" "1" "00802" "00802" "2009-01-30 15:56:14" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210686" "00209629" "1" "00802" "00802" "2009-01-30 16:00:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210687" "00209630" "1" "00802" "00802" "2009-02-24 10:33:31" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210688" "00209631" "1" "00802" "00802" "2009-02-24 10:34:43" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210689" "00209632" "1" "00802" "00802" "2009-02-24 10:39:17" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210690" "00209633" "1" "00802" "00802" "2009-02-24 10:41:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210691" "00209634" "1" "00802" "00802" "2009-02-24 10:43:43" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210692" "00209635" "1" "00802" "00802" "2009-02-24 10:48:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210693" "00209636" "1" "00802" "00802" "2009-02-24 10:54:56" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210694" "00209637" "1" "00802" "00802" "2009-02-24 10:56:14" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210695" "00209638" "1" "00802" "00802" "2009-02-24 10:56:57" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210696" "00209639" "1" "00802" "00802" "2009-02-24 11:04:31" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210697" "00209640" "1" "00802" "00802" "2009-02-24 11:05:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210698" "00209641" "1" "00802" "00802" "2009-02-24 11:06:34" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210699" "00209642" "1" "00802" "00802" "2009-02-24 11:09:50" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210700" "00209643" "1" "00802" "00802" "2009-02-24 11:23:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210701" "00209644" "1" "00802" "00802" "2009-02-24 11:27:23" "00802" "2010-02-05 15:07:27" "SEQ" "DNA" "" "" "0000210702" "00209645" "1" "00802" "00802" "2009-02-24 11:33:51" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210703" "00209646" "1" "00802" "00802" "2009-02-24 11:40:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210704" "00209647" "1" "00802" "00802" "2009-02-24 11:42:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210705" "00209648" "1" "00802" "00802" "2009-02-24 11:43:34" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210706" "00209649" "1" "00802" "00802" "2009-02-24 11:46:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210707" "00209650" "1" "00802" "00802" "2009-02-24 11:53:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210708" "00209651" "1" "00802" "00802" "2009-02-24 11:58:39" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210709" "00209652" "1" "00802" "00802" "2009-02-24 12:31:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210710" "00209653" "1" "00802" "00802" "2009-02-24 12:35:51" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210711" "00209654" "1" "00802" "00802" "2009-02-24 12:38:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210712" "00209655" "1" "00802" "00802" "2009-02-24 12:40:29" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210713" "00209656" "1" "00802" "00802" "2009-02-24 12:41:32" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210714" "00209657" "1" "00802" "00802" "2009-02-24 12:42:17" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210715" "00209658" "1" "00802" "00802" "2009-02-24 12:54:47" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210716" "00209659" "1" "00802" "00802" "2009-02-24 12:56:38" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210717" "00209660" "1" "00802" "00802" "2009-02-24 12:59:44" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210718" "00209661" "1" "00802" "00802" "2009-02-24 13:03:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210719" "00209662" "1" "00802" "00802" "2009-02-24 13:06:31" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210720" "00209663" "1" "00802" "00802" "2009-02-24 13:08:06" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210721" "00209664" "1" "00802" "00802" "2009-02-24 13:09:50" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210722" "00209665" "1" "00802" "00802" "2009-02-24 13:16:26" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210723" "00209666" "1" "00802" "00802" "2009-02-24 13:20:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210724" "00209667" "1" "00802" "00802" "2009-02-24 13:26:51" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210725" "00209668" "1" "00802" "00802" "2009-02-24 13:28:22" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210726" "00209669" "1" "00802" "00802" "2009-02-24 13:29:57" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210727" "00209670" "1" "00802" "00802" "2009-02-24 13:31:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210728" "00209671" "1" "00802" "00802" "2009-02-24 13:34:10" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210729" "00209672" "1" "00802" "00802" "2009-02-24 13:35:41" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210730" "00209673" "1" "00802" "00802" "2009-02-24 13:38:16" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210731" "00209674" "1" "00802" "00802" "2009-02-24 13:41:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210732" "00209675" "1" "00802" "00802" "2009-02-24 13:46:14" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210733" "00209676" "1" "00802" "00802" "2009-02-24 13:47:03" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210734" "00209677" "1" "00802" "00802" "2009-02-24 13:49:31" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210735" "00209678" "1" "00802" "00802" "2009-02-24 13:51:18" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210736" "00209679" "1" "00802" "00802" "2009-02-24 13:53:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210737" "00209680" "1" "00802" "00802" "2009-02-24 13:55:00" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210738" "00209681" "1" "00802" "00802" "2009-02-24 13:56:32" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210739" "00209682" "1" "00802" "00802" "2009-02-24 13:58:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210740" "00209683" "1" "00802" "00802" "2009-02-24 13:59:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210741" "00209684" "1" "00802" "00802" "2009-02-24 14:01:38" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210742" "00209685" "1" "00802" "00802" "2009-02-24 14:02:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210743" "00209686" "1" "00802" "00802" "2009-02-24 14:04:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210744" "00209687" "1" "00802" "00802" "2009-02-24 14:05:44" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210745" "00209688" "1" "00802" "00802" "2009-02-24 14:06:37" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210746" "00209689" "1" "00802" "00802" "2009-02-24 14:08:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210747" "00209690" "1" "00802" "00802" "2009-02-24 14:11:28" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210748" "00209691" "1" "00802" "00802" "2009-02-24 14:13:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210749" "00209692" "1" "00802" "00802" "2009-02-24 14:16:18" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210750" "00209693" "1" "00802" "00802" "2009-02-24 14:18:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210751" "00209694" "1" "00802" "00802" "2009-02-24 14:20:11" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210752" "00209695" "1" "00802" "00802" "2009-02-24 14:26:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210753" "00209696" "1" "00802" "00802" "2009-02-24 14:27:17" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210754" "00209697" "1" "00802" "00802" "2009-02-24 14:29:03" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210755" "00209698" "1" "00802" "00802" "2009-02-24 14:34:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210756" "00209699" "1" "00802" "00802" "2009-02-24 14:36:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210757" "00209700" "1" "00802" "00802" "2009-02-24 14:37:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210758" "00209701" "1" "00802" "00802" "2009-02-24 14:39:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210759" "00209702" "1" "00802" "00802" "2009-02-24 14:40:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210760" "00209703" "1" "00802" "00802" "2009-02-24 14:41:12" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210761" "00209704" "1" "00802" "00802" "2009-02-24 15:02:28" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210762" "00209705" "1" "00802" "00802" "2009-02-24 15:05:27" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210763" "00209706" "1" "00802" "00802" "2009-02-24 15:06:52" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210764" "00209707" "1" "00802" "00802" "2009-02-24 15:09:19" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210765" "00209708" "1" "00802" "00802" "2009-02-24 15:10:53" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210766" "00209709" "1" "00802" "00802" "2009-02-24 15:14:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210767" "00209710" "1" "00802" "00802" "2009-02-24 15:18:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210768" "00209711" "1" "00802" "00802" "2009-02-24 15:22:26" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210769" "00209712" "1" "00802" "00802" "2009-02-24 15:28:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210770" "00209713" "1" "00802" "00802" "2009-02-24 15:33:34" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210771" "00209714" "1" "00802" "00802" "2009-02-24 15:34:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210772" "00209715" "1" "00802" "00802" "2009-02-24 15:35:40" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210773" "00209716" "1" "00802" "00802" "2009-02-24 15:37:07" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210774" "00209717" "1" "00802" "00802" "2009-02-24 15:43:59" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210775" "00209718" "1" "00802" "00802" "2009-02-24 15:45:29" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210776" "00209719" "1" "00802" "00802" "2009-02-24 15:53:21" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210777" "00209720" "1" "00802" "00802" "2009-02-24 15:55:36" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210778" "00209721" "1" "00802" "00802" "2009-02-24 15:57:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210779" "00209722" "1" "00802" "00802" "2009-02-24 15:58:22" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210780" "00209723" "1" "00802" "00802" "2009-02-24 16:00:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210781" "00209724" "1" "00802" "00802" "2009-02-24 16:02:03" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210782" "00209725" "1" "00802" "00802" "2009-02-24 16:03:06" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210783" "00209726" "1" "00802" "00802" "2009-02-24 16:04:22" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210784" "00209727" "1" "00802" "00802" "2009-02-24 16:13:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210785" "00209728" "1" "00802" "00802" "2009-02-24 16:15:10" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210786" "00209729" "1" "00802" "00802" "2009-02-24 16:17:59" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210787" "00209730" "1" "00802" "00802" "2009-02-24 16:21:21" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210788" "00209731" "1" "00802" "00802" "2009-02-24 16:23:26" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210789" "00209732" "1" "00802" "00802" "2009-02-24 16:24:12" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210790" "00209733" "1" "00802" "00802" "2009-02-24 16:27:13" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210791" "00209734" "1" "00802" "00802" "2009-02-24 16:28:03" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210792" "00209735" "1" "00802" "00802" "2009-02-24 16:30:58" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210793" "00209736" "1" "00802" "00802" "2009-02-24 16:32:37" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210794" "00209737" "1" "00802" "00802" "2009-02-24 16:34:12" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210795" "00209738" "1" "00802" "00802" "2009-02-24 16:39:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210796" "00209739" "1" "00802" "00802" "2009-02-24 16:40:55" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210797" "00209740" "1" "00802" "00802" "2009-02-24 16:41:58" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210798" "00209741" "1" "00802" "00802" "2009-02-24 16:42:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210799" "00209742" "1" "00802" "00802" "2009-02-24 16:44:39" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210800" "00209743" "1" "00802" "00802" "2009-02-25 08:52:51" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210801" "00209744" "1" "00802" "00802" "2009-02-25 08:55:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210802" "00209745" "1" "00802" "00802" "2009-02-25 08:56:18" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210803" "00209746" "1" "00802" "00802" "2009-02-25 08:57:30" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210804" "00209747" "1" "00802" "00802" "2009-02-25 08:59:05" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210805" "00209748" "1" "00802" "00802" "2009-02-25 09:00:40" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210806" "00209749" "1" "00802" "00802" "2009-02-25 09:02:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210807" "00209750" "1" "00802" "00802" "2009-02-25 09:03:40" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210808" "00209751" "1" "00802" "00802" "2009-02-25 09:04:33" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210809" "00209752" "1" "00802" "00802" "2009-02-25 09:14:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210810" "00209753" "1" "00802" "00802" "2009-02-25 09:17:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210811" "00209754" "1" "00802" "00802" "2009-03-12 10:45:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210812" "00209755" "1" "00802" "00802" "2009-03-12 10:47:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210813" "00209756" "1" "00802" "00802" "2009-03-12 10:52:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210814" "00209757" "1" "00802" "00802" "2009-03-13 15:56:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210815" "00209758" "1" "00802" "00802" "2009-03-13 16:00:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210816" "00209759" "1" "00802" "00802" "2009-03-13 16:33:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210817" "00209760" "1" "00802" "00802" "2009-03-13 16:35:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210818" "00209761" "1" "00802" "00802" "2009-03-13 16:37:43" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210819" "00209762" "1" "00802" "00802" "2009-03-13 16:39:22" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210820" "00209763" "1" "00802" "00802" "2009-03-13 16:40:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210821" "00209764" "1" "00802" "00802" "2009-03-23 09:51:18" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210822" "00209765" "1" "00802" "00802" "2009-04-29 13:05:49" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210823" "00209766" "1" "00802" "00802" "2009-06-03 10:50:33" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210824" "00209767" "1" "00802" "00802" "2009-06-03 10:54:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210825" "00209768" "1" "00802" "00802" "2009-06-03 10:56:42" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210826" "00209769" "1" "00802" "00802" "2009-06-03 10:57:52" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210827" "00209770" "1" "00802" "00802" "2009-06-03 10:59:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210828" "00209771" "1" "00802" "00802" "2009-06-17 16:22:09" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210829" "00209772" "1" "00802" "00802" "2009-06-17 16:24:13" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210830" "00209773" "1" "00802" "00802" "2009-06-18 13:12:31" "00802" "2010-03-11 09:23:31" "SEQ" "DNA" "" "" "0000210831" "00209774" "1" "00802" "00802" "2009-06-18 13:14:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210832" "00209775" "1" "00802" "00802" "2009-06-18 13:16:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210833" "00209776" "1" "00802" "00802" "2009-06-18 13:17:52" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210834" "00209777" "1" "00802" "00802" "2009-06-18 13:20:21" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210835" "00209778" "1" "00802" "00802" "2009-06-18 13:31:30" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210836" "00209779" "1" "00802" "00802" "2009-06-18 13:33:00" "00802" "2010-02-05 15:09:42" "SEQ" "DNA" "" "" "0000210837" "00209780" "1" "00802" "00802" "2009-06-18 13:35:51" "00802" "2010-02-05 15:17:51" "SEQ" "DNA" "" "" "0000210838" "00209781" "1" "00802" "00802" "2009-06-18 13:38:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210839" "00209782" "1" "00802" "00802" "2009-06-18 13:52:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210840" "00209783" "1" "00802" "00802" "2009-06-18 13:57:11" "00802" "2010-02-05 15:37:51" "SEQ" "DNA" "" "" "0000210841" "00209784" "1" "00802" "00802" "2009-06-18 13:58:51" "00802" "2010-02-05 15:40:40" "SEQ" "DNA" "" "" "0000210842" "00209785" "1" "00802" "00802" "2009-06-18 16:28:58" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210843" "00209786" "1" "00802" "00802" "2009-06-18 16:34:23" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210844" "00209787" "1" "00802" "00802" "2009-06-18 16:35:54" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210845" "00209788" "1" "00802" "00802" "2009-06-18 16:41:56" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210846" "00209789" "1" "00802" "00802" "2009-06-18 16:50:30" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210847" "00209790" "1" "00802" "00802" "2009-06-18 16:56:26" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210848" "00209791" "1" "00802" "00802" "2009-06-18 16:59:07" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210849" "00209792" "1" "00802" "00802" "2009-06-18 17:01:11" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210850" "00209793" "1" "00802" "00802" "2009-06-19 11:34:54" "00802" "2010-02-05 15:33:37" "SEQ" "DNA" "" "" "0000210851" "00209794" "1" "00802" "00802" "2009-06-19 11:41:30" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210852" "00209795" "1" "00802" "00802" "2009-06-19 11:46:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210853" "00209796" "1" "00802" "00802" "2009-06-19 11:50:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210854" "00209797" "1" "00802" "00802" "2009-07-28 12:23:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210855" "00209798" "1" "00802" "00802" "2009-07-28 12:28:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210856" "00209799" "1" "00802" "00802" "2009-08-03 10:25:54" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210857" "00209800" "1" "00802" "00802" "2009-09-01 11:17:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210858" "00209801" "1" "00802" "00802" "2009-11-03 16:15:52" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210859" "00209802" "1" "00802" "00802" "2009-11-03 16:23:09" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210860" "00209803" "1" "00802" "00802" "2009-11-03 16:24:38" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210861" "00209804" "1" "00802" "00802" "2009-11-03 16:26:42" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210862" "00209805" "1" "00802" "00802" "2009-11-03 16:44:27" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210863" "00209806" "1" "00802" "00802" "2009-11-03 16:54:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210864" "00209807" "1" "00802" "00802" "2009-11-11 13:54:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210865" "00209808" "1" "00802" "00802" "2009-11-11 14:00:34" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210866" "00209809" "1" "00802" "00802" "2009-11-11 14:06:26" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210867" "00209810" "1" "00802" "00802" "2009-11-11 14:13:07" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210868" "00209811" "1" "00802" "00802" "2009-11-11 14:16:28" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210869" "00209812" "1" "00802" "00802" "2009-11-11 14:18:44" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210870" "00209813" "1" "00802" "00802" "2009-11-11 14:20:41" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210871" "00209814" "1" "00802" "00802" "2010-01-04 16:00:09" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210872" "00209815" "1" "00802" "00802" "2010-01-04 16:02:16" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210873" "00209816" "1" "00802" "00802" "2010-01-04 16:04:27" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210874" "00209817" "1" "00802" "00802" "2010-01-04 16:06:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210875" "00209818" "1" "00802" "00802" "2010-01-04 16:46:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210876" "00209819" "1" "00802" "00802" "2010-01-04 16:52:06" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210877" "00209820" "1" "00802" "00802" "2010-01-04 17:11:26" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210878" "00209821" "1" "00802" "00802" "2010-01-04 17:20:41" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210879" "00209822" "1" "00802" "00802" "2010-01-04 17:46:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210880" "00209823" "1" "00802" "00802" "2010-01-04 18:10:14" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210881" "00209824" "1" "00802" "00802" "2010-02-05 15:26:01" "" "" "SEQ" "DNA" "" "" "0000210882" "00209825" "1" "00802" "00802" "2010-02-05 15:31:37" "" "" "SEQ" "DNA" "" "" "0000210883" "00209826" "1" "00802" "00802" "2010-03-11 09:21:56" "" "" "SEQ" "DNA" "" "" "0000210884" "00209827" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210885" "00209828" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210886" "00209829" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210887" "00209830" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210888" "00209831" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210889" "00209832" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210890" "00209833" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210891" "00209834" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210892" "00209835" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210893" "00209836" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210894" "00209837" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210895" "00209838" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210896" "00209839" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210897" "00209840" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210898" "00209841" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210899" "00209842" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210900" "00209843" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210901" "00209844" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210902" "00209845" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210903" "00209846" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210904" "00209847" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210905" "00209848" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210906" "00209849" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210907" "00209850" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210908" "00209851" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210909" "00209852" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210910" "00209853" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210911" "00209854" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210912" "00209855" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210913" "00209856" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210914" "00209857" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210915" "00209858" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210916" "00209859" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210917" "00209860" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210918" "00209861" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210919" "00209862" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210920" "00209863" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210921" "00209864" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210922" "00209865" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210923" "00209866" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210924" "00209867" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210925" "00209868" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210926" "00209869" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210927" "00209870" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210928" "00209871" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210929" "00209872" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210930" "00209873" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210931" "00209874" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210932" "00209875" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210933" "00209876" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210934" "00209877" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210935" "00209878" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210936" "00209879" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210937" "00209880" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210938" "00209881" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210939" "00209882" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210940" "00209883" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210941" "00209884" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210942" "00209885" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210943" "00209886" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210944" "00209887" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210945" "00209888" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210946" "00209889" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210947" "00209890" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210948" "00209891" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210949" "00209892" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210950" "00209893" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210951" "00209894" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210952" "00209895" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210953" "00209896" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210954" "00209897" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210955" "00209898" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210956" "00209899" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210957" "00209900" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210958" "00209901" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210959" "00209902" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210960" "00209903" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210961" "00209904" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210962" "00209905" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210963" "00209906" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210964" "00209907" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210965" "00209908" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210966" "00209909" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210967" "00209910" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210968" "00209911" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210969" "00209912" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210970" "00209913" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210971" "00209914" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210972" "00209915" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210973" "00209916" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210974" "00209917" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210975" "00209918" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210976" "00209919" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210977" "00209920" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210978" "00209921" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210979" "00209922" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210980" "00209923" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210981" "00209924" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210982" "00209925" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210983" "00209926" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210984" "00209927" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210985" "00209928" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210986" "00209929" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210987" "00209930" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210988" "00209931" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210989" "00209932" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210990" "00209933" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210991" "00209934" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210992" "00209935" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210993" "00209936" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210994" "00209937" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210995" "00209938" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210996" "00209939" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000210997" "00209940" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000210998" "00209941" "1" "00802" "00802" "2014-10-15 16:41:07" "" "" "SEQ" "DNA" "" "" "0000211045" "00209988" "1" "00006" "00006" "2018-12-24 17:04:02" "00006" "2018-12-24 17:13:37" "DHPLC;SEQ" "DNA" "" "screen PKP2, DSG2, DSC2, JUP" "0000211046" "00209989" "1" "00006" "00006" "2018-12-24 17:17:39" "00006" "2018-12-24 17:23:42" "DHPLC;SEQ" "DNA" "" "screen PKP2, DSG2, DSC2, JUP" "0000211047" "00209990" "1" "00006" "00006" "2018-12-24 18:44:10" "" "" "SEQ" "DNA" "" "" "0000211048" "00209991" "1" "00006" "00006" "2018-12-24 19:08:28" "" "" "SEQ" "DNA" "" "" "0000211049" "00209992" "1" "00006" "00006" "2018-12-24 19:13:18" "" "" "SEQ" "DNA" "" "" "0000211051" "00209994" "1" "00006" "00006" "2018-12-24 19:20:50" "" "" "SEQ" "DNA" "" "" "0000211052" "00209995" "1" "00006" "00006" "2018-12-24 19:25:13" "" "" "SEQ" "DNA" "" "" "0000211053" "00209996" "1" "00006" "00006" "2018-12-24 19:29:36" "" "" "SEQ" "DNA" "" "" "0000211054" "00209997" "1" "00006" "00006" "2018-12-24 19:39:05" "" "" "SEQ" "DNA" "" "" "0000291847" "00290679" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291848" "00290680" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291849" "00290681" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291850" "00290682" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291851" "00290683" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291852" "00290684" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305479" "00304350" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306518" "00305389" "1" "01164" "01164" "2020-06-24 16:01:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000306522" "00305390" "1" "01164" "01164" "2020-06-24 16:06:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000306523" "00305394" "1" "01164" "01164" "2020-06-24 16:11:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000306524" "00305395" "1" "01164" "01164" "2020-06-24 16:14:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000306525" "00305396" "1" "01164" "01164" "2020-06-24 16:19:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000318074" "00316892" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318075" "00316893" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318214" "00317032" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318215" "00317033" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318216" "00317034" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318217" "00317035" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318218" "00317036" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318219" "00317037" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318220" "00317038" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318221" "00317039" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318222" "00317040" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318223" "00317041" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318224" "00317042" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318225" "00317043" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318226" "00317044" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318227" "00317045" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318228" "00317046" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318229" "00317047" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318230" "00317048" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318231" "00317049" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318232" "00317050" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318233" "00317051" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318234" "00317052" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318235" "00317053" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318236" "00317054" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318237" "00317055" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318238" "00317056" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318239" "00317057" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318240" "00317058" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318241" "00317059" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318242" "00317060" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318243" "00317061" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318244" "00317062" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318245" "00317063" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318246" "00317064" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318247" "00317065" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318248" "00317066" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318249" "00317067" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318250" "00317068" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318251" "00317069" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318252" "00317070" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318253" "00317071" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318254" "00317072" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318255" "00317073" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318256" "00317074" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318257" "00317075" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318258" "00317076" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319041" "00317859" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319042" "00317860" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319043" "00317861" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319044" "00317862" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319045" "00317863" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000321470" "00320284" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321474" "00320288" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000325326" "00324136" "1" "03288" "03288" "2020-12-02 12:20:08" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000373992" "00372759" "1" "01807" "01807" "2021-05-11 14:30:01" "" "" "SEQ" "DNA" "" "" "0000418972" "00417678" "1" "04384" "04384" "2022-09-21 14:10:53" "" "" "SEQ-NG" "DNA" "" "" "0000418973" "00417679" "1" "04384" "04384" "2022-09-21 14:13:02" "" "" "SEQ-NG" "DNA" "" "" "0000418978" "00417684" "1" "04384" "04384" "2022-09-21 16:43:13" "" "" "SEQ-NG" "DNA" "" "" "0000420857" "00419553" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429592" "00428181" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429593" "00428182" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429594" "00428183" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429595" "00428184" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000448436" "00446861" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454757" "00453146" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454848" "00453237" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454849" "00453238" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454850" "00453239" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000455391" "00453779" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455392" "00453780" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455393" "00453781" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470896" "00469228" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472268" "00470601" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 446 "{{screeningid}}" "{{geneid}}" "0000016312" "PKP2" "0000058430" "PKP2" "0000058430" "TTN" "0000058432" "MYPN" "0000058432" "PKP2" "0000058432" "TTN" "0000064164" "DSP" "0000064164" "PKP2" "0000064165" "DSG2" "0000064165" "PKP2" "0000064167" "PKP2" "0000064168" "PKP2" "0000064212" "TTN" 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"PKP2" "0000210838" "PKP2" "0000210839" "PKP2" "0000210840" "PKP2" "0000210841" "PKP2" "0000210842" "PKP2" "0000210843" "PKP2" "0000210844" "PKP2" "0000210845" "PKP2" "0000210846" "PKP2" "0000210847" "PKP2" "0000210848" "PKP2" "0000210849" "PKP2" "0000210850" "PKP2" "0000210851" "PKP2" "0000210852" "PKP2" "0000210853" "PKP2" "0000210854" "PKP2" "0000210855" "PKP2" "0000210856" "PKP2" "0000210857" "PKP2" "0000210858" "PKP2" "0000210859" "PKP2" "0000210860" "PKP2" "0000210861" "PKP2" "0000210862" "PKP2" "0000210863" "PKP2" "0000210864" "PKP2" "0000210865" "PKP2" "0000210866" "PKP2" "0000210867" "PKP2" "0000210868" "PKP2" "0000210869" "PKP2" "0000210870" "PKP2" "0000210871" "PKP2" "0000210872" "PKP2" "0000210873" "PKP2" "0000210874" "PKP2" "0000210875" "PKP2" "0000210876" "PKP2" "0000210877" "PKP2" "0000210878" "PKP2" "0000210879" "PKP2" "0000210880" "PKP2" "0000210881" "PKP2" "0000210882" "PKP2" "0000210883" "PKP2" "0000210884" "PKP2" "0000210885" "PKP2" "0000210886" "PKP2" "0000210887" "PKP2" "0000210888" "PKP2" "0000210889" "PKP2" "0000210890" "PKP2" "0000210891" "PKP2" "0000210892" "PKP2" "0000210893" "PKP2" "0000210894" "PKP2" "0000210895" "PKP2" "0000210896" "PKP2" "0000210897" "PKP2" "0000210898" "PKP2" "0000210899" "PKP2" "0000210900" "PKP2" "0000210901" "PKP2" "0000210902" "PKP2" "0000210903" "PKP2" "0000210904" "PKP2" "0000210905" "PKP2" "0000210906" "PKP2" "0000210907" "PKP2" "0000210908" "PKP2" "0000210909" "PKP2" "0000210910" "PKP2" "0000210911" "PKP2" "0000210912" "PKP2" "0000210913" "PKP2" "0000210914" "PKP2" "0000210915" "PKP2" "0000210916" "PKP2" "0000210917" "PKP2" "0000210918" "PKP2" "0000210919" "PKP2" "0000210920" "PKP2" "0000210921" "PKP2" "0000210922" "PKP2" "0000210923" "PKP2" "0000210924" "PKP2" "0000210925" "PKP2" "0000210926" "PKP2" "0000210927" "PKP2" "0000210928" "PKP2" "0000210929" "PKP2" "0000210930" "PKP2" "0000210931" "PKP2" "0000210932" "PKP2" "0000210933" "PKP2" "0000210934" "PKP2" "0000210935" "PKP2" "0000210936" "PKP2" "0000210937" "PKP2" "0000210938" "PKP2" "0000210939" "PKP2" "0000210940" "PKP2" "0000210941" "PKP2" "0000210942" "PKP2" "0000210943" "PKP2" "0000210944" "PKP2" "0000210945" "PKP2" "0000210946" "PKP2" "0000210947" "PKP2" "0000210948" "PKP2" "0000210949" "PKP2" "0000210950" "PKP2" "0000210951" "PKP2" "0000210952" "PKP2" "0000210953" "PKP2" "0000210954" "PKP2" "0000210955" "PKP2" "0000210956" "PKP2" "0000210957" "PKP2" "0000210958" "PKP2" "0000210959" "PKP2" "0000210960" "PKP2" "0000210961" "PKP2" "0000210962" "PKP2" "0000210963" "PKP2" "0000210964" "PKP2" "0000210965" "PKP2" "0000210966" "PKP2" "0000210967" "PKP2" "0000210968" "PKP2" "0000210969" "PKP2" "0000210970" "PKP2" "0000210971" "PKP2" "0000210972" "PKP2" "0000210973" "PKP2" "0000210974" "PKP2" "0000210975" "PKP2" "0000210976" "PKP2" "0000210977" "PKP2" "0000210978" "PKP2" "0000210979" "PKP2" "0000210980" "PKP2" "0000210981" "PKP2" "0000210982" "PKP2" "0000210983" "PKP2" "0000210984" "PKP2" "0000210985" "PKP2" "0000210986" "PKP2" "0000210987" "PKP2" "0000210988" "PKP2" "0000210989" "PKP2" "0000210990" "PKP2" "0000210991" "PKP2" "0000210992" "PKP2" "0000210993" "PKP2" "0000210994" "PKP2" "0000210995" "PKP2" "0000210996" "PKP2" "0000210997" "PKP2" "0000210998" "PKP2" "0000211045" "DSP" "0000211045" "PKP2" "0000211046" "DSG2" "0000211046" "PKP2" "0000306518" "PKP2" "0000306522" "PKP2" "0000306523" "PKP2" "0000306524" "PKP2" "0000306525" "PKP2" "0000318074" "PKP2" "0000318075" "PKP2" "0000318214" "PKP2" "0000318215" "PKP2" "0000318216" "PKP2" "0000318217" "PKP2" "0000318218" "PKP2" "0000318219" "PKP2" "0000318220" "PKP2" "0000318221" "PKP2" "0000318222" "PKP2" "0000318223" "PKP2" "0000318224" "PKP2" "0000318225" "PKP2" "0000318226" "PKP2" "0000318227" "PKP2" "0000318228" "PKP2" "0000318229" "PKP2" "0000318230" "PKP2" "0000318231" "PKP2" "0000318232" "PKP2" "0000318233" "PKP2" "0000318234" "PKP2" "0000318235" "PKP2" "0000318236" "PKP2" "0000318237" "PKP2" "0000318238" "PKP2" "0000318239" "PKP2" "0000318240" "PKP2" "0000318241" "PKP2" "0000318242" "PKP2" "0000318243" "PKP2" "0000318244" "PKP2" "0000318245" "PKP2" "0000318246" "PKP2" "0000318247" "PKP2" "0000318248" "PKP2" "0000318249" "PKP2" "0000318250" "PKP2" "0000318251" "PKP2" "0000318252" "PKP2" "0000318253" "PKP2" "0000318254" "PKP2" "0000318255" "PKP2" "0000318256" "PKP2" "0000318257" "PKP2" "0000318258" "PKP2" "0000319041" "PKP2" "0000319042" "PKP2" "0000319043" "PKP2" "0000319044" "PKP2" "0000319045" "PKP2" "0000321470" "PKP2" "0000321474" "ABCC9" "0000321474" "APOB" "0000321474" "DSC2" "0000321474" "PKP2" "0000325326" "PKP2" "0000418972" "PKP2" "0000418973" "PKP2" "0000418978" "PKP2" "0000472268" "PKP2" ## 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 = 1083 "{{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}}" "0000005126" "3" "50" "12" "33048743" "33048743" "subst" "0" "00037" "PKP2_000378" "g.33048743T>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.32895809T>C" "" "VUS" "" "0000013069" "0" "50" "12" "33048743" "33048743" "subst" "0" "00037" "PKP2_000378" "g.33048743T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32895809T>C" "" "VUS" "" "0000036107" "1" "30" "12" "33049590" "33049590" "subst" "0.00839651" "00006" "PKP2_000001" "g.33049590C>T" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "76C>T" "" "Unknown" "?" "" "0" "" "" "g.32896656C>T" "" "likely benign" "" "0000052352" "1" "10" "12" "32994073" "32994073" "subst" "0.00244616" "00066" "PKP2_000054" "g.32994073G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs146882581" "0" "" "" "g.32841139G>A" "" "benign" "" "0000052358" "1" "10" "12" "32994073" "32994073" "subst" "0.00244616" "00066" "PKP2_000054" "g.32994073G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs146882581" "0" "" "" "g.32841139G>A" "" "benign" "" "0000052367" "0" "10" "12" "32977004" "32977004" "subst" "0" "00066" "PKP2_000379" "g.32977004A>G" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "" "0" "" "" "g.32824070A>G" "" "benign" "" "0000052370" "0" "50" "12" "32945651" "32945651" "subst" "1.2187E-5" "00066" "PKP2_000380" "g.32945651T>C" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs372729739" "0" "" "" "g.32792717T>C" "" "VUS" "" "0000088995" "1" "30" "12" "32945631" "32945631" "subst" "6.90557E-5" "00006" "PKP2_000381" "g.32945631C>T" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "2524C>T" "" "Germline" "" "" "0" "" "" "g.32792697C>T" "" "likely benign" "" "0000089000" "1" "30" "12" "32994058" "32994058" "subst" "0.00492789" "00006" "PKP2_000056" "g.32994058A>C" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "likely benign" "" "0000089005" "0" "50" "12" "33031888" "33031888" "subst" "0.000154346" "00066" "PKP2_000178" "g.33031888C>T" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs149542398" "0" "" "" "g.32878954C>T" "" "VUS" "" "0000095128" "0" "90" "12" "32996183" "32996187" "del" "0" "00006" "PKP2_000235" "g.32996183_32996187del" "" "" "" "1440_1444delTCCCA" "" "Germline" "" "" "0" "" "" "g.32843249_32843253del" "" "pathogenic" "" "0000095130" "0" "50" "12" "33049590" "33049590" "subst" "0.00839651" "00006" "PKP2_000001" "g.33049590C>T" "" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "" "" "Germline" "" "" "0" "" "" "g.32896656C>T" "" "VUS" "" "0000095132" "1" "90" "12" "33049518" "33049521" "del" "0" "00006" "PKP2_000003" "g.33049518_33049521del" "" "{PMID:van Tintelen 2006:16567567}, {PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "148_151delACAG" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000095133" "0" "70" "12" "33021971" "33021971" "subst" "0" "00006" "PKP2_000382" "g.33021971C>G" "" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "" "" "Germline" "" "" "0" "" "" "g.32869037C>G" "" "likely pathogenic" "" "0000095134" "1" "90" "12" "32974427" "32974427" "del" "0" "00006" "PKP2_000144" "g.32974427del" "" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "2009delC (Asn670ThrfsX683)" "" "Germline" "yes" "" "0" "" "" "g.32821493del" "" "pathogenic" "" "0000095226" "0" "50" "12" "33031329" "33031329" "subst" "1.62476E-5" "00006" "PKP2_000383" "g.33031329G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.C485T" "" "Germline" "" "" "0" "" "" "g.32878395G>A" "" "VUS" "" "0000095249" "0" "50" "12" "32975563" "32975563" "subst" "0" "00006" "PKP2_000384" "g.32975563A>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.T1809G" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.32822629A>C" "" "VUS" "" "0000095285" "0" "50" "12" "32975563" "32975563" "subst" "0" "00006" "PKP2_000384" "g.32975563A>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.T1809G" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.32822629A>C" "" "VUS" "" "0000095354" "0" "50" "12" "33003706" "33003706" "subst" "0.00111932" "00006" "PKP2_000227" "g.33003706T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.A1372G" "" "Germline" "" "" "0" "" "" "g.32850772T>C" "" "VUS" "" "0000095488" "0" "50" "12" "33031888" "33031888" "subst" "0.000154346" "00006" "PKP2_000178" "g.33031888C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.G302A" "" "Germline" "" "" "0" "" "" "g.32878954C>T" "" "VUS" "" "0000095528" "0" "50" "12" "33003706" "33003706" "subst" "0.00111932" "00006" "PKP2_000227" "g.33003706T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.A1372G" "" "Germline" "" "" "0" "" "" "g.32850772T>C" "" "VUS" "" "0000095535" "0" "50" "12" "33049492" "33049492" "subst" "0.00577997" "00006" "PKP2_000004" "g.33049492C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.G174T" "" "Germline" "" "" "0" "" "" "g.32896558C>A" "" "VUS" "" "0000095662" "0" "50" "12" "33031039" "33031039" "subst" "0" "00006" "PKP2_000201" "g.33031039C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001005242:c.G775T" "" "Germline" "" "" "0" "" "" "g.32878105C>A" "" "VUS" "" "0000096507" "0" "70" "12" "33049482" "33049482" "subst" "0.000137621" "01601" "PKP2_000006" "g.33049482G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32896548G>T" "" "likely pathogenic" "" "0000096522" "0" "50" "12" "32994058" "32994058" "subst" "0.00492789" "01601" "PKP2_000056" "g.32994058A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "VUS" "" "0000096531" "0" "50" "12" "32949101" "32949101" "subst" "0.000901486" "01601" "PKP2_000271" "g.32949101G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32796167G>T" "" "VUS" "" "0000096556" "0" "50" "12" "32974352" "32974352" "subst" "0.000134056" "01602" "PKP2_000262" "g.32974352G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "" "rs199583774" "0" "" "" "g.32821418G>A" "" "VUS" "" "0000117649" "0" "70" "12" "32945647" "32945647" "del" "0" "00006" "PKP2_000112" "g.32945647del" "" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "S837fs" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "likely pathogenic" "" "0000117650" "0" "90" "12" "33031915" "33031915" "subst" "8.12321E-6" "00006" "PKP2_000177" "g.33031915A>T" "" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "I92X" "" "Germline" "" "" "0" "" "" "g.32878981A>T" "" "pathogenic" "" "0000163236" "21" "70" "12" "32974425" "32974425" "del" "0" "01915" "PKP2_000079" "g.32974425del" "" "manuscript in preparation" "" "g.2128del" "probably disease causing with low penetrance or one of two causal variants in digenic inheritance mode" "Germline" "?" "" "0" "" "" "g.32821491del" "" "likely pathogenic" "" "0000163237" "21" "70" "12" "32945540" "32945589" "del" "0" "01915" "PKP2_000385" "g.32945540_32945589del" "" "manuscript in preparation" "" "g.109195_109244del" "probably disease causing either with low penetrance or as one of two variants in a digenic inheritance mode" "Germline" "?" "" "0" "" "" "g.32792606_32792655del" "" "pathogenic" "" "0000164589" "0" "90" "12" "33049518" "33049521" "del" "0" "00006" "PKP2_000003" "g.33049518_33049521del" "" "{PMID:Syrris 2006:16415378}" "" "144_148delCAGA" "{FSM:ARVD9_mut}" "Germline" "yes" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000164593" "0" "90" "12" "33049450" "33049450" "dup" "0" "00006" "PKP2_000012" "g.33049450dup" "" "{PMID:Gerull 2004:15489853}" "" "216insG" "" "Germline" "" "" "0" "" "" "g.32896516dup" "" "pathogenic" "" "0000164599" "0" "90" "12" "33031279" "33031280" "ins" "0" "00006" "PKP2_000020" "g.33031279_33031280insAG" "" "{PMID:Gerull 2004:15489853}" "" "534_535insCT" "" "Germline" "" "" "0" "" "" "g.32878345_32878346insAG" "" "pathogenic" "" "0000164608" "0" "90" "12" "32994019" "32994020" "ins" "0" "00006" "PKP2_000059" "g.32994019_32994020insAA" "" "{PMID:Gerull 2004:15489853}" "" "1631_1632insTT (L544fsX563)" "variant description changed to mtch DNA/protein description" "Germline" "" "" "0" "" "" "g.32841085_32841086insAA" "" "pathogenic" "" "0000164609" "0" "90" "12" "32994008" "32994008" "del" "0" "00006" "PKP2_000061" "g.32994008del" "" "{PMID:Gerull 2004:15489853}" "" "1642delG" "" "Germline" "" "" "0" "" "" "g.32841074del" "" "pathogenic" "" "0000164612" "1" "90" "12" "32977036" "32977043" "dup" "0" "00006" "PKP2_000067" "g.32977036_32977043dup" "" "{PMID:Syrris P 2006:16415378}" "" "1755_1756insTTGACTCA" "" "Germline" "yes" "" "0" "" "" "g.32824102_32824109dup" "" "pathogenic" "" "0000164623" "0" "90" "12" "32974360" "32974361" "del" "0" "00006" "PKP2_000082" "g.32974360_32974361del" "" "{PMID:Gerull 2004:15489853}" "" "2076_2077delAA" "" "Germline" "" "" "0" "" "" "g.32821426_32821427del" "" "pathogenic" "" "0000164624" "0" "90" "12" "32974349" "32974349" "dup" "0" "00006" "PKP2_000083" "g.32974349dup" "" "{PMID:Gerull 2004:15489853}" "" "2088insA" "" "Germline" "" "" "0" "" "" "g.32821415dup" "" "pathogenic" "" "0000164626" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "00006" "PKP2_000088" "g.32955491C>G" "" "{PMID:Gerull 2004:15489853}" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000164627" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "00006" "PKP2_000088" "g.32955491C>G" "" "{PMID:Syrris P 2006:16415378}" "" "2146-1G>C" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000164630" "0" "90" "12" "32955434" "32955439" "delins" "0" "00006" "PKP2_000092" "g.32955434_32955439delinsC" "" "{PMID:Syrris 2006:16415378}" "" "2197_2202insGdelCACACC" "" "Germline" "yes" "" "0" "" "" "g.32802500_32802505delinsC" "" "pathogenic" "" "0000164632" "21" "90" "12" "32955439" "32955440" "ins" "0" "00006" "PKP2_000091" "g.32955439_32955440insN[28]" "" "{PMID:Kannankeril 2006:16876743}" "" "2196ins28" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000164634" "0" "90" "12" "32949134" "32949142" "del" "0" "00006" "PKP2_000100" "g.32949134_32949142del" "" "{PMID:Gerull 2004:15489853}" "" "2393_2401delCATTGAACA" "" "Germline" "" "" "0" "" "" "g.32796200_32796208del" "" "pathogenic" "" "0000164636" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "00006" "PKP2_000107" "g.32949042C>T" "" "{PMID:Gerull 2004:15489853}" "" "2489+1G>A" "" "Germline" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000164637" "0" "90" "12" "32945666" "32945666" "subst" "0" "00006" "PKP2_000111" "g.32945666C>G" "" "{PMID:Gerull 2004:15489853}" "" "2490-1G>C" "" "Germline" "" "" "0" "" "" "g.32792732C>G" "" "pathogenic" "" "0000218426" "0" "50" "12" "33049482" "33049482" "subst" "0.000137621" "02244" "PKP2_000006" "g.33049482G>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.32896548G>T" "" "VUS" "" "0000218479" "0" "50" "12" "33031913" "33031913" "subst" "0" "02244" "PKP2_000386" "g.33031913C>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.32878979C>A" "" "VUS" "" "0000218499" "0" "50" "12" "32949101" "32949101" "subst" "0.000901486" "02244" "PKP2_000271" "g.32949101G>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.32796167G>T" "" "VUS" "" "0000235438" "0" "50" "12" "33030802" "33030802" "subst" "0.0022214" "02335" "PKP2_000033" "g.33030802T>C" "" "" "" "" "in silico analyses: likely benign" "Germline/De novo (untested)" "" "rs139851304" "0" "" "" "g.32877868T>C" "" "VUS" "" "0000247070" "0" "10" "12" "33021934" "33021934" "subst" "0.180473" "02330" "PKP2_000034" "g.33021934A>G" "" "" "" "PKP2(NM_004572.3):c.1097T>C (p.L366P), PKP2(NM_004572.4):c.1097T>C (p.L366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32869000A>G" "" "benign" "" "0000247073" "0" "10" "12" "33003918" "33003918" "subst" "0.00289128" "02330" "PKP2_000040" "g.33003918A>G" "" "" "" "PKP2(NM_004572.3):c.1171-11T>C, PKP2(NM_004572.4):c.1171-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850984A>G" "" "benign" "" "0000247080" "0" "10" "12" "33021915" "33021915" "subst" "0.00101575" "02330" "PKP2_000217" "g.33021915A>G" "" "" "" "PKP2(NM_004572.3):c.1116T>C (p.A372=), PKP2(NM_004572.4):c.1116T>C (p.A372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32868981A>G" "" "benign" "" "0000247082" "0" "10" "12" "33003917" "33003917" "subst" "0.000396109" "02330" "PKP2_000297" "g.33003917A>G" "" "" "" "PKP2(NM_001005242.3):c.1171-10T>C, PKP2(NM_004572.3):c.1171-10T>C, PKP2(NM_004572.4):c.1171-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850983A>G" "" "benign" "" "0000247084" "0" "50" "12" "32974373" "32974373" "subst" "2.03128E-5" "02330" "PKP2_000081" "g.32974373A>G" "" "" "" "PKP2(NM_004572.3):c.2062T>C (p.S688P), PKP2(NM_004572.4):c.2062T>C (p.S688P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821439A>G" "" "VUS" "" "0000247091" "0" "10" "12" "32949252" "32949252" "del" "0" "02330" "PKP2_000289" "g.32949252del" "" "" "" "PKP2(NM_004572.3):c.2300-11delT, PKP2(NM_004572.4):c.2300-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796318del" "" "benign" "" "0000247092" "0" "90" "12" "32949146" "32949146" "subst" "0" "02330" "PKP2_000099" "g.32949146A>G" "" "" "" "PKP2(NM_004572.3):c.2386T>C (p.C796R), PKP2(NM_004572.4):c.2386T>C (p.C796R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796212A>G" "" "pathogenic" "" "0000247102" "0" "50" "12" "32949187" "32949187" "subst" "0" "02330" "PKP2_000395" "g.32949187A>G" "" "" "" "PKP2(NM_004572.3):c.2345T>C (p.V782A), PKP2(NM_004572.4):c.2345T>C (p.V782A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796253A>G" "" "VUS" "" "0000247114" "0" "10" "12" "32949045" "32949045" "subst" "0.000146211" "02330" "PKP2_000105" "g.32949045A>G" "" "" "" "PKP2(NM_004572.4):c.2487T>C (p.D829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796111A>G" "" "benign" "" "0000247115" "0" "10" "12" "32996177" "32996177" "subst" "8.08999E-5" "02330" "PKP2_000353" "g.32996177A>G" "" "" "" "PKP2(NM_004572.4):c.1449T>C (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843243A>G" "" "benign" "" "0000247154" "0" "10" "12" "32949251" "32949251" "subst" "0" "02330" "PKP2_000397" "g.32949251A>T" "" "" "" "PKP2(NM_004572.4):c.2300-19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796317A>T" "" "benign" "" "0000247170" "0" "30" "12" "33031837" "33031837" "subst" "0.000207216" "02330" "PKP2_000369" "g.33031837A>C" "" "" "" "PKP2(NM_004572.3):c.336+17T>G, PKP2(NM_004572.4):c.336+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878903A>C" "" "likely benign" "" "0000247842" "0" "10" "12" "33021934" "33021934" "subst" "0.180473" "02325" "PKP2_000034" "g.33021934A>G" "" "" "" "PKP2(NM_004572.3):c.1097T>C (p.L366P), PKP2(NM_004572.4):c.1097T>C (p.L366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32869000A>G" "" "benign" "" "0000247880" "0" "30" "12" "33003918" "33003918" "subst" "0.00289128" "02325" "PKP2_000040" "g.33003918A>G" "" "" "" "PKP2(NM_004572.3):c.1171-11T>C, PKP2(NM_004572.4):c.1171-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850984A>G" "" "likely benign" "" "0000248286" "0" "90" "12" "32949146" "32949146" "subst" "0" "02325" "PKP2_000099" "g.32949146A>G" "" "" "" "PKP2(NM_004572.3):c.2386T>C (p.C796R), PKP2(NM_004572.4):c.2386T>C (p.C796R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796212A>G" "" "pathogenic" "" "0000249561" "0" "30" "12" "32945671" "32945671" "subst" "4.46897E-5" "02325" "PKP2_000392" "g.32945671A>G" "" "" "" "PKP2(NM_004572.4):c.2490-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792737A>G" "" "likely benign" "" "0000249710" "0" "50" "12" "32949187" "32949187" "subst" "0" "02325" "PKP2_000395" "g.32949187A>G" "" "" "" "PKP2(NM_004572.3):c.2345T>C (p.V782A), PKP2(NM_004572.4):c.2345T>C (p.V782A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796253A>G" "" "VUS" "" "0000249802" "0" "50" "12" "33031396" "33031396" "subst" "4.0622E-6" "02325" "PKP2_000181" "g.33031396A>T" "" "" "" "PKP2(NM_004572.3):c.418T>A (p.S140T), PKP2(NM_004572.4):c.418T>A (p.S140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878462A>T" "" "VUS" "" "0000250624" "0" "10" "12" "33021934" "33021934" "subst" "0.180473" "02326" "PKP2_000034" "g.33021934A>G" "" "" "" "PKP2(NM_004572.3):c.1097T>C (p.L366P), PKP2(NM_004572.4):c.1097T>C (p.L366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32869000A>G" "" "benign" "" "0000250662" "0" "10" "12" "33003918" "33003918" "subst" "0.00289128" "02326" "PKP2_000040" "g.33003918A>G" "" "" "" "PKP2(NM_004572.3):c.1171-11T>C, PKP2(NM_004572.4):c.1171-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850984A>G" "" "benign" "" "0000250790" "0" "30" "12" "33003917" "33003917" "subst" "0.000396109" "02326" "PKP2_000297" "g.33003917A>G" "" "" "" "PKP2(NM_001005242.3):c.1171-10T>C, PKP2(NM_004572.3):c.1171-10T>C, PKP2(NM_004572.4):c.1171-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850983A>G" "" "likely benign" "" "0000251747" "0" "30" "12" "32949252" "32949252" "del" "0" "02326" "PKP2_000289" "g.32949252del" "" "" "" "PKP2(NM_004572.3):c.2300-11delT, PKP2(NM_004572.4):c.2300-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796318del" "" "likely benign" "" "0000252213" "0" "30" "12" "32949244" "32949244" "subst" "0" "02326" "PKP2_000396" "g.32949244A>G" "" "" "" "PKP2(NM_004572.3):c.2300-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796310A>G" "" "likely benign" "" "0000252214" "0" "30" "12" "32977105" "32977105" "subst" "0" "02326" "PKP2_000342" "g.32977105A>G" "" "" "" "PKP2(NM_004572.3):c.1689-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32824171A>G" "" "likely benign" "" "0000252459" "0" "90" "12" "32949146" "32949146" "subst" "0" "02326" "PKP2_000099" "g.32949146A>G" "" "" "" "PKP2(NM_004572.3):c.2386T>C (p.C796R), PKP2(NM_004572.4):c.2386T>C (p.C796R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796212A>G" "" "pathogenic" "" "0000252976" "0" "10" "12" "33021934" "33021934" "subst" "0.180473" "01943" "PKP2_000034" "g.33021934A>G" "" "" "" "PKP2(NM_004572.3):c.1097T>C (p.L366P), PKP2(NM_004572.4):c.1097T>C (p.L366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32869000A>G" "" "benign" "" "0000253014" "0" "10" "12" "33003918" "33003918" "subst" "0.00289128" "01943" "PKP2_000040" "g.33003918A>G" "" "" "" "PKP2(NM_004572.3):c.1171-11T>C, PKP2(NM_004572.4):c.1171-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850984A>G" "" "benign" "" "0000253361" "0" "10" "12" "33021915" "33021915" "subst" "0.00101575" "01943" "PKP2_000217" "g.33021915A>G" "" "" "" "PKP2(NM_004572.3):c.1116T>C (p.A372=), PKP2(NM_004572.4):c.1116T>C (p.A372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32868981A>G" "" "benign" "" "0000254009" "0" "30" "12" "33003917" "33003917" "subst" "0.000396109" "01943" "PKP2_000297" "g.33003917A>G" "" "" "" "PKP2(NM_001005242.3):c.1171-10T>C, PKP2(NM_004572.3):c.1171-10T>C, PKP2(NM_004572.4):c.1171-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850983A>G" "" "likely benign" "" "0000255830" "0" "50" "12" "32974373" "32974373" "subst" "2.03128E-5" "01943" "PKP2_000081" "g.32974373A>G" "" "" "" "PKP2(NM_004572.3):c.2062T>C (p.S688P), PKP2(NM_004572.4):c.2062T>C (p.S688P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821439A>G" "" "VUS" "" "0000256269" "0" "50" "12" "32955378" "32955378" "subst" "0" "01943" "PKP2_000398" "g.32955378A>G" "" "" "" "PKP2(NM_004572.3):c.2258T>C (p.L753P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802444A>G" "" "VUS" "" "0000293788" "0" "10" "12" "33049672" "33049672" "subst" "0" "02330" "PKP2_000278" "g.33049672G>A" "" "" "" "PKP2(NM_004572.4):c.-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896738G>A" "" "benign" "" "0000293789" "0" "10" "12" "33030802" "33030802" "subst" "0.0022214" "02330" "PKP2_000033" "g.33030802T>C" "" "" "" "PKP2(NM_001005242.3):c.1012A>G (p.(Thr338Ala)), PKP2(NM_004572.3):c.1012A>G (p.T338A), PKP2(NM_004572.4):c.1012A>G (p.T338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877868T>C" "" "benign" "" "0000293790" "0" "10" "12" "33030770" "33030770" "subst" "0.000181363" "02330" "PKP2_000304" "g.33030770G>A" "" "" "" "PKP2(NM_004572.3):c.1034+10C>T, PKP2(NM_004572.4):c.1034+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877836G>A" "" "benign" "" "0000293791" "0" "10" "12" "33030773" "33030773" "subst" "0" "02330" "PKP2_000305" "g.33030773G>T" "" "" "" "PKP2(NM_004572.4):c.1034+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877839G>T" "" "benign" "" "0000293792" "0" "50" "12" "33021938" "33021938" "subst" "0.000260061" "02330" "PKP2_000216" "g.33021938T>C" "" "" "" "PKP2(NM_004572.3):c.1093A>G (p.M365V), PKP2(NM_004572.4):c.1093A>G (p.M365V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32869004T>C" "" "VUS" "" "0000293793" "0" "10" "12" "33021897" "33021897" "subst" "0" "02330" "PKP2_000300" "g.33021897C>T" "" "" "" "PKP2(NM_004572.4):c.1134G>A (p.Q378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32868963C>T" "" "benign" "" "0000293794" "0" "90" "12" "33003909" "33003909" "subst" "0" "02330" "PKP2_000041" "g.33003909T>C" "" "" "" "PKP2(NM_004572.4):c.1171-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850975T>C" "" "pathogenic" "" "0000293795" "0" "50" "12" "33003895" "33003895" "subst" "4.06818E-6" "02330" "PKP2_000364" "g.33003895G>A" "" "" "" "PKP2(NM_004572.4):c.1183C>T (p.R395C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850961G>A" "" "VUS" "" "0000293797" "0" "30" "12" "33049532" "33049532" "subst" "0" "02330" "PKP2_000375" "g.33049532C>T" "" "" "" "PKP2(NM_004572.4):c.134G>A (p.G45D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896598C>T" "" "likely benign" "" "0000293798" "0" "90" "12" "33003709" "33003712" "del" "0" "02330" "PKP2_000048" "g.33003709_33003712del" "" "" "" "PKP2(NM_004572.4):c.1369_1372delCAAA (p.Q457*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850775_32850778del" "" "pathogenic" "" "0000293799" "0" "30" "12" "32996248" "32996248" "subst" "9.51727E-5" "02330" "PKP2_000050" "g.32996248C>T" "" "" "" "PKP2(NM_004572.4):c.1379-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843314C>T" "" "likely benign" "" "0000293800" "0" "10" "12" "32996240" "32996240" "subst" "0" "02330" "PKP2_000357" "g.32996240T>C" "" "" "" "PKP2(NM_004572.4):c.1386A>G (p.T462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843306T>C" "" "benign" "" "0000293801" "0" "10" "12" "32996201" "32996201" "subst" "0" "02330" "PKP2_000354" "g.32996201C>G" "" "" "" "PKP2(NM_004572.4):c.1425G>C (p.V475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843267C>G" "" "benign" "" "0000293802" "0" "50" "12" "32996172" "32996172" "subst" "4.27332E-6" "02330" "PKP2_000352" "g.32996172C>T" "" "" "" "PKP2(NM_004572.3):c.1454G>A (p.G485E), PKP2(NM_004572.4):c.1454G>A (p.G485E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843238C>T" "" "VUS" "" "0000293803" "0" "90" "12" "33049518" "33049521" "del" "0" "02330" "PKP2_000003" "g.33049518_33049521del" "" "" "" "PKP2(NM_004572.4):c.148_151delACAG (p.T50Sfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000293804" "0" "50" "12" "33049652" "33049652" "subst" "3.69522E-5" "02330" "PKP2_000377" "g.33049652C>T" "" "" "" "PKP2(NM_004572.4):c.14G>A (p.G5D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896718C>T" "" "VUS" "" "0000293805" "0" "10" "12" "32996105" "32996106" "del" "1.19914E-5" "02330" "PKP2_000349" "g.32996105_32996106del" "" "" "" "PKP2(NM_004572.4):c.1510+10_1510+11delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843171_32843172del" "" "benign" "" "0000293806" "0" "10" "12" "32994157" "32994157" "subst" "0.000420327" "02330" "PKP2_000348" "g.32994157T>C" "" "" "" "PKP2(NM_004572.3):c.1511-18A>G, PKP2(NM_004572.4):c.1511-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841223T>C" "" "benign" "" "0000293807" "0" "10" "12" "33049510" "33049510" "subst" "0.00142456" "02330" "PKP2_000009" "g.33049510C>T" "" "" "" "PKP2(NM_004572.4):c.156G>A (p.K52=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896576C>T" "" "benign" "" "0000293808" "0" "10" "12" "32994073" "32994073" "subst" "0.00244616" "02330" "PKP2_000054" "g.32994073G>A" "" "" "" "PKP2(NM_004572.3):c.1577C>T (p.T526M), PKP2(NM_004572.4):c.1577C>T (p.T526M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841139G>A" "" "benign" "" "0000293809" "0" "50" "12" "32993998" "32993998" "subst" "0" "02330" "PKP2_000345" "g.32993998T>C" "" "" "" "PKP2(NM_004572.4):c.1652A>G (p.D551G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841064T>C" "" "VUS" "" "0000293810" "0" "10" "12" "33049501" "33049501" "subst" "0" "02330" "PKP2_000010" "g.33049501C>A" "" "" "" "PKP2(NM_004572.3):c.165G>T (p.R55=), PKP2(NM_004572.4):c.165G>T (p.R55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896567C>A" "" "benign" "" "0000293811" "0" "10" "12" "32993979" "32993979" "subst" "0.000427006" "02330" "PKP2_000344" "g.32993979G>A" "" "" "" "PKP2(NM_004572.3):c.1671C>T (p.N557=), PKP2(NM_004572.4):c.1671C>T (p.N557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841045G>A" "" "benign" "" "0000293812" "0" "50" "12" "32993963" "32993963" "subst" "0" "02330" "PKP2_000343" "g.32993963T>G" "" "" "" "PKP2(NM_004572.4):c.1687A>C (p.R563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841029T>G" "" "VUS" "" "0000293814" "0" "10" "12" "32977109" "32977109" "dup" "0" "02330" "PKP2_000341" "g.32977109dup" "" "" "" "PKP2(NM_001005242.3):c.1557-8dup, PKP2(NM_004572.3):c.1689-8dupT, PKP2(NM_004572.4):c.1689-14delGinsGT, PKP2(NM_004572.4):c.1689-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32824175dup" "" "benign" "" "0000293815" "0" "50" "12" "32977043" "32977043" "subst" "1.2197E-5" "02330" "PKP2_000248" "g.32977043C>T" "" "" "" "PKP2(NM_004572.4):c.1742G>A (p.G581E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32824109C>T" "" "VUS" "" "0000293816" "0" "50" "12" "33049482" "33049482" "subst" "0.000137621" "02330" "PKP2_000006" "g.33049482G>T" "" "" "" "PKP2(NM_004572.3):c.184C>A (p.Q62K), PKP2(NM_004572.4):c.184C>A (p.Q62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896548G>T" "" "VUS" "" "0000293817" "0" "50" "12" "32975500" "32975500" "subst" "7.7222E-5" "02330" "PKP2_000410" "g.32975500C>A" "" "" "" "PKP2(NM_004572.3):c.1872G>T (p.E624D), PKP2(NM_004572.4):c.1872G>T (p.E624D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822566C>A" "" "VUS" "" "0000293818" "0" "90" "12" "32975436" "32975436" "subst" "0" "02330" "PKP2_000409" "g.32975436C>A" "" "" "" "PKP2(NM_004572.4):c.1936G>T (p.G646*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822502C>A" "" "pathogenic" "" "0000293819" "0" "90" "12" "32975421" "32975421" "subst" "4.06408E-6" "02330" "PKP2_000076" "g.32975421G>A" "" "" "" "PKP2(NM_004572.4):c.1951C>T (p.R651*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822487G>A" "" "pathogenic" "" "0000293820" "0" "10" "12" "33049471" "33049471" "subst" "0.000132484" "02330" "PKP2_000170" "g.33049471G>A" "" "" "" "PKP2(NM_004572.3):c.195C>T (p.A65=), PKP2(NM_004572.4):c.195C>T (p.A65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896537G>A" "" "benign" "" "0000293821" "0" "10" "12" "32974365" "32974365" "subst" "2.03133E-5" "02330" "PKP2_000407" "g.32974365G>A" "" "" "" "PKP2(NM_004572.4):c.2070C>T (p.I690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821431G>A" "" "benign" "" "0000293822" "0" "30" "12" "32974348" "32974348" "subst" "0.000154351" "02330" "PKP2_000405" "g.32974348T>C" "" "" "" "PKP2(NM_004572.3):c.2087A>G (p.N696S), PKP2(NM_004572.4):c.2087A>G (p.N696S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821414T>C" "" "likely benign" "" "0000293823" "0" "30" "12" "32974337" "32974341" "del" "0" "02330" "PKP2_000404" "g.32974337_32974341del" "" "" "" "PKP2(NM_004572.4):c.2095_2099delCAAGA (p.Q699Sfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821403_32821407del" "" "likely benign" "" "0000293824" "0" "10" "12" "33049457" "33049457" "subst" "0.0212146" "02330" "PKP2_000011" "g.33049457C>A" "" "" "" "PKP2(NM_001005242.3):c.209G>T (p.(Ser70Ile)), PKP2(NM_004572.3):c.209G>T (p.S70I), PKP2(NM_004572.4):c.209G>T (p.S70I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896523C>A" "" "benign" "" "0000293825" "0" "10" "12" "32974302" "32974302" "subst" "0.000377785" "02330" "PKP2_000402" "g.32974302G>A" "" "" "" "PKP2(NM_004572.3):c.2133C>T (p.A711=), PKP2(NM_004572.4):c.2133C>T (p.A711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821368G>A" "" "benign" "" "0000293826" "0" "10" "12" "32955467" "32955467" "subst" "0.000113775" "02330" "PKP2_000401" "g.32955467T>C" "" "" "" "PKP2(NM_004572.4):c.2169A>G (p.T723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802533T>C" "" "benign" "" "0000293827" "0" "10" "12" "32955383" "32955383" "subst" "4.87413E-5" "02330" "PKP2_000094" "g.32955383C>T" "" "" "" "PKP2(NM_004572.3):c.2253G>A (p.S751=), PKP2(NM_004572.4):c.2253G>A (p.S751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802449C>T" "" "benign" "" "0000293828" "0" "10" "12" "32955330" "32955330" "subst" "0.0275058" "02330" "PKP2_000096" "g.32955330G>A" "" "" "" "PKP2(NM_001005242.3):c.2167+7C>T, PKP2(NM_004572.3):c.2299+7C>T, PKP2(NM_004572.4):c.2299+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802396G>A" "" "benign" "" "0000293831" "0" "10" "12" "32949249" "32949252" "del" "0" "02330" "PKP2_000290" "g.32949249_32949252del" "" "" "" "PKP2(NM_004572.4):c.2300-14_2300-11delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796315_32796318del" "" "benign" "" "0000293832" "0" "10" "12" "32949255" "32949259" "del" "0" "02330" "PKP2_000291" "g.32949255_32949259del" "" "" "" "PKP2(NM_004572.4):c.2300-21_2300-17delGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796321_32796325del" "" "benign" "" "0000293833" "0" "10" "12" "32949253" "32949255" "del" "0" "02330" "PKP2_000292" "g.32949253_32949255del" "" "" "" "PKP2(NM_004572.4):c.2300-21_2300-19delGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796319_32796321del" "" "benign" "" "0000293834" "0" "10" "12" "32949253" "32949253" "del" "0" "02330" "PKP2_000098" "g.32949253del" "" "" "" "PKP2(NM_004572.4):c.2300-21delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796319del" "" "benign" "" "0000293835" "0" "50" "12" "32949200" "32949200" "subst" "3.65729E-5" "02330" "PKP2_000285" "g.32949200T>C" "" "" "" "PKP2(NM_004572.4):c.2332A>G (p.I778V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796266T>C" "" "VUS" "" "0000293836" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "02330" "PKP2_000013" "g.33031955G>A" "" "" "" "PKP2(NM_001005242.3):c.235C>T (p.(Arg79Ter)), PKP2(NM_004572.3):c.235C>T (p.R79*), PKP2(NM_004572.4):c.235C>T (p.R79*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000293837" "0" "30" "12" "32949167" "32949167" "subst" "0.000341178" "02330" "PKP2_000284" "g.32949167T>C" "" "" "" "PKP2(NM_004572.3):c.2365A>G (p.I789V), PKP2(NM_004572.4):c.2365A>G (p.I789V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796233T>C" "" "likely benign" "" "0000293838" "0" "30" "12" "32949101" "32949101" "subst" "0.000901486" "02330" "PKP2_000271" "g.32949101G>T" "" "" "" "PKP2(NM_001005242.2):c.2299C>A (p.(Arg767Ser)), PKP2(NM_004572.3):c.2431C>A (p.R811S), PKP2(NM_004572.4):c.2431C>A (p.R811S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796167G>T" "" "likely benign" "" "0000293839" "0" "10" "12" "32949047" "32949047" "subst" "0.000312734" "02330" "PKP2_000274" "g.32949047C>T" "" "" "" "PKP2(NM_004572.3):c.2485G>A (p.D829N), PKP2(NM_004572.4):c.2485G>A (p.D829N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796113C>T" "" "benign" "" "0000293840" "0" "10" "12" "32949029" "32949030" "ins" "0.209702" "02330" "PKP2_000393" "g.32949029_32949030insG" "" "" "" "PKP2(NM_004572.3):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13delGinsGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796095_32796096insG" "" "benign" "" "0000293841" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "02330" "PKP2_000107" "g.32949042C>T" "" "" "" "PKP2(NM_004572.3):c.2489+1G>A (p.?), PKP2(NM_004572.4):c.2489+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000293842" "0" "10" "12" "32945632" "32945632" "subst" "4.06217E-6" "02330" "PKP2_000391" "g.32945632G>A" "" "" "" "PKP2(NM_004572.4):c.2523C>T (p.S841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792698G>A" "" "benign" "" "0000293843" "0" "50" "12" "32945585" "32945585" "subst" "4.06154E-6" "02330" "PKP2_000390" "g.32945585T>A" "" "" "" "PKP2(NM_004572.3):c.2570A>T (p.Y857F), PKP2(NM_004572.4):c.2570A>T (p.Y857F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792651T>A" "" "VUS" "" "0000293844" "0" "50" "12" "33031450" "33031450" "subst" "3.29731E-5" "02330" "PKP2_000368" "g.33031450G>A" "" "" "" "PKP2(NM_004572.3):c.364C>T (p.R122C), PKP2(NM_004572.4):c.364C>T (p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878516G>A" "" "VUS" "" "0000293845" "0" "90" "12" "33031446" "33031446" "subst" "0" "02330" "PKP2_000180" "g.33031446C>T" "" "" "" "PKP2(NM_004572.4):c.368G>A (p.W123*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878512C>T" "" "pathogenic" "" "0000293846" "0" "90" "12" "33031417" "33031417" "subst" "0" "02330" "PKP2_000017" "g.33031417G>A" "" "" "" "PKP2(NM_001005242.2):c.397C>T (p.(Gln133Ter)), PKP2(NM_004572.3):c.397C>T (p.Q133*), PKP2(NM_004572.4):c.397C>T (p.Q133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878483G>A" "" "pathogenic" "" "0000293847" "0" "10" "12" "33031395" "33031395" "subst" "0.00231927" "02330" "PKP2_000018" "g.33031395G>A" "" "" "" "PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878461G>A" "" "benign" "" "0000293848" "0" "50" "12" "33031347" "33031347" "subst" "8.12236E-6" "02330" "PKP2_000329" "g.33031347G>A" "" "" "" "PKP2(NM_004572.4):c.467C>T (p.P156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878413G>A" "" "VUS" "" "0000293849" "0" "10" "12" "33031309" "33031309" "subst" "0.00116228" "02330" "PKP2_000148" "g.33031309T>C" "" "" "" "PKP2(NM_004572.3):c.505A>G (p.S169G), PKP2(NM_004572.4):c.505A>G (p.S169G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878375T>C" "" "benign" "" "0000293850" "0" "30" "12" "33031203" "33031203" "subst" "7.71724E-5" "02330" "PKP2_000325" "g.33031203C>T" "" "" "" "PKP2(NM_004572.3):c.611G>A (p.R204H), PKP2(NM_004572.4):c.611G>A (p.R204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878269C>T" "" "likely benign" "" "0000293851" "0" "50" "12" "33031159" "33031159" "subst" "0" "02330" "PKP2_000324" "g.33031159T>C" "" "" "" "PKP2(NM_004572.3):c.655A>G (p.R219G), PKP2(NM_004572.4):c.655A>G (p.R219G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878225T>C" "" "VUS" "" "0000293852" "0" "10" "12" "33031108" "33031108" "subst" "0.00046724" "02330" "PKP2_000022" "g.33031108C>A" "" "" "" "PKP2(NM_004572.3):c.706G>T (p.A236S), PKP2(NM_004572.4):c.706G>T (p.A236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878174C>A" "" "benign" "" "0000293853" "0" "50" "12" "33031101" "33031101" "subst" "4.46955E-5" "02330" "PKP2_000196" "g.33031101G>A" "" "" "" "PKP2(NM_004572.3):c.713C>T (p.P238L), PKP2(NM_004572.4):c.713C>T (p.P238L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878167G>A" "" "VUS" "" "0000293854" "0" "30" "12" "33031089" "33031089" "subst" "0.000113772" "02330" "PKP2_000197" "g.33031089G>A" "" "" "" "PKP2(NM_004572.4):c.725C>T (p.T242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878155G>A" "" "likely benign" "" "0000293855" "0" "10" "12" "33049590" "33049590" "subst" "0.00839651" "02330" "PKP2_000001" "g.33049590C>T" "" "" "" "PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896656C>T" "" "benign" "" "0000293856" "0" "50" "12" "33031026" "33031026" "subst" "2.03267E-5" "02330" "PKP2_000318" "g.33031026G>A" "" "" "" "PKP2(NM_004572.3):c.788C>T (p.T263M), PKP2(NM_004572.4):c.788C>T (p.T263M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878092G>A" "" "VUS" "" "0000293857" "0" "10" "12" "33031023" "33031023" "subst" "0.00235395" "02330" "PKP2_000023" "g.33031023G>A" "" "" "" "PKP2(NM_004572.3):c.791C>T (p.A264V), PKP2(NM_004572.4):c.791C>T (p.A264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878089G>A" "" "benign" "" "0000293858" "0" "10" "12" "33030995" "33030995" "subst" "0.00788795" "02330" "PKP2_000024" "g.33030995C>T" "" "" "" "PKP2(NM_004572.3):c.819G>A (p.P273=), PKP2(NM_004572.4):c.819G>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878061C>T" "" "benign" "" "0000293859" "0" "50" "12" "33030988" "33030988" "subst" "0.000162705" "02330" "PKP2_000138" "g.33030988G>A" "" "" "" "PKP2(NM_004572.4):c.826C>T (p.P276S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878054G>A" "" "VUS" "" "0000293860" "0" "50" "12" "33030919" "33030919" "subst" "6.91484E-5" "02330" "PKP2_000207" "g.33030919G>A" "" "" "" "PKP2(NM_004572.3):c.895C>T (p.R299C), PKP2(NM_004572.4):c.895C>T (p.R299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877985G>A" "" "VUS" "" "0000293861" "0" "10" "12" "33030875" "33030875" "subst" "0.000573684" "02330" "PKP2_000026" "g.33030875G>A" "" "" "" "PKP2(NM_004572.3):c.939C>T (p.S313=), PKP2(NM_004572.4):c.939C>T (p.S313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877941G>A" "" "benign" "" "0000293862" "0" "30" "12" "33030864" "33030864" "subst" "1.22089E-5" "02330" "PKP2_000310" "g.33030864G>A" "" "" "" "PKP2(NM_001005242.2):c.950C>T (p.(Ala317Val)), PKP2(NM_004572.4):c.950C>T (p.A317V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877930G>A" "" "likely benign" "" "0000293863" "0" "10" "12" "33030863" "33030863" "subst" "0.000537306" "02330" "PKP2_000027" "g.33030863C>T" "" "" "" "PKP2(NM_004572.3):c.951G>A (p.A317=), PKP2(NM_004572.4):c.951G>A (p.A317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877929C>T" "" "benign" "" "0000293864" "0" "50" "12" "33030843" "33030843" "subst" "2.44806E-5" "02330" "PKP2_000308" "g.33030843G>A" "" "" "" "PKP2(NM_004572.4):c.971C>T (p.A324V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877909G>A" "" "VUS" "" "0000297013" "0" "30" "12" "33030770" "33030770" "subst" "0.000181363" "02325" "PKP2_000304" "g.33030770G>A" "" "" "" "PKP2(NM_004572.3):c.1034+10C>T, PKP2(NM_004572.4):c.1034+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877836G>A" "" "likely benign" "" "0000297014" "0" "50" "12" "33021938" "33021938" "subst" "0.000260061" "02325" "PKP2_000216" "g.33021938T>C" "" "" "" "PKP2(NM_004572.3):c.1093A>G (p.M365V), PKP2(NM_004572.4):c.1093A>G (p.M365V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32869004T>C" "" "VUS" "" "0000297015" "0" "30" "12" "33003924" "33003924" "subst" "2.46015E-5" "02325" "PKP2_000299" "g.33003924T>C" "" "" "" "PKP2(NM_004572.4):c.1171-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850990T>C" "" "likely benign" "" "0000297016" "0" "30" "12" "33003902" "33003902" "subst" "0" "02325" "PKP2_000365" "g.33003902G>A" "" "" "" "PKP2(NM_004572.4):c.1176C>T (p.N392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850968G>A" "" "likely benign" "" "0000297017" "0" "90" "12" "33003867" "33003867" "dup" "0" "02325" "PKP2_000042" "g.33003867dup" "" "" "" "PKP2(NM_001005242.3):c.1211dup (p.(Val406SerfsTer4)), PKP2(NM_004572.3):c.1211dupT (p.V406Sfs*4), PKP2(NM_004572.4):c.1210delCinsCT (p.V406Sfs*4), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850933dup" "" "pathogenic" "" "0000297019" "0" "50" "12" "33003790" "33003790" "subst" "4.06468E-6" "02325" "PKP2_000360" "g.33003790T>C" "" "" "" "PKP2(NM_004572.4):c.1288A>G (p.K430E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850856T>C" "" "VUS" "" "0000297020" "0" "50" "12" "32996129" "32996129" "subst" "1.9575E-5" "02325" "PKP2_000351" "g.32996129C>A" "" "" "" "PKP2(NM_004572.3):c.1497G>T (p.(Gln499His), p.Q499H), PKP2(NM_004572.4):c.1497G>T (p.Q499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843195C>A" "" "VUS" "" "0000297021" "0" "50" "12" "32994077" "32994077" "subst" "0" "02325" "PKP2_000346" "g.32994077G>C" "" "" "" "PKP2(NM_004572.3):c.1573C>G (p.L525V), PKP2(NM_004572.4):c.1573C>G (p.L525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841143G>C" "" "VUS" "" "0000297022" "0" "50" "12" "32993998" "32993998" "subst" "0" "02325" "PKP2_000345" "g.32993998T>C" "" "" "" "PKP2(NM_004572.4):c.1652A>G (p.D551G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841064T>C" "" "VUS" "" "0000297023" "0" "90" "12" "32975524" "32975524" "subst" "0" "02325" "PKP2_000072" "g.32975524G>T" "" "" "" "PKP2(NM_004572.3):c.1848C>A (p.Y616*), PKP2(NM_004572.4):c.1848C>A (p.Y616*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822590G>T" "" "pathogenic" "" "0000297024" "0" "50" "12" "33049482" "33049482" "subst" "0.000137621" "02325" "PKP2_000006" "g.33049482G>T" "" "" "" "PKP2(NM_004572.3):c.184C>A (p.Q62K), PKP2(NM_004572.4):c.184C>A (p.Q62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896548G>T" "" "VUS" "" "0000297025" "0" "90" "12" "32975421" "32975421" "subst" "4.06408E-6" "02325" "PKP2_000076" "g.32975421G>A" "" "" "" "PKP2(NM_004572.4):c.1951C>T (p.R651*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822487G>A" "" "pathogenic" "" "0000297026" "0" "50" "12" "32975411" "32975411" "subst" "0" "02325" "PKP2_000408" "g.32975411T>C" "" "" "" "PKP2(NM_004572.4):c.1961A>G (p.K654R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822477T>C" "" "VUS" "" "0000297027" "0" "50" "12" "32974352" "32974352" "subst" "0.000134056" "02325" "PKP2_000262" "g.32974352G>A" "" "" "" "PKP2(NM_001005242.2):c.1951C>T (p.(Arg651Cys)), PKP2(NM_004572.4):c.2083C>T (p.R695C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821418G>A" "" "VUS" "" "0000297028" "0" "10" "12" "33049457" "33049457" "subst" "0.0212146" "02325" "PKP2_000011" "g.33049457C>A" "" "" "" "PKP2(NM_001005242.3):c.209G>T (p.(Ser70Ile)), PKP2(NM_004572.3):c.209G>T (p.S70I), PKP2(NM_004572.4):c.209G>T (p.S70I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896523C>A" "" "benign" "" "0000297029" "0" "30" "12" "32974302" "32974302" "subst" "0.000377785" "02325" "PKP2_000402" "g.32974302G>A" "" "" "" "PKP2(NM_004572.3):c.2133C>T (p.A711=), PKP2(NM_004572.4):c.2133C>T (p.A711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821368G>A" "" "likely benign" "" "0000297030" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "02325" "PKP2_000088" "g.32955491C>G" "" "" "" "PKP2(NM_004572.3):c.2146-1G>C, PKP2(NM_004572.4):c.2146-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000297031" "0" "30" "12" "32955434" "32955434" "subst" "4.06306E-6" "02325" "PKP2_000400" "g.32955434G>C" "" "" "" "PKP2(NM_004572.4):c.2202C>G (p.T734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802500G>C" "" "likely benign" "" "0000297032" "0" "50" "12" "32955384" "32955384" "subst" "0" "02325" "PKP2_000399" "g.32955384G>C" "" "" "" "PKP2(NM_004572.4):c.2252C>G (p.S751W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802450G>C" "" "VUS" "" "0000297033" "0" "30" "12" "32955383" "32955383" "subst" "4.87413E-5" "02325" "PKP2_000094" "g.32955383C>T" "" "" "" "PKP2(NM_004572.3):c.2253G>A (p.S751=), PKP2(NM_004572.4):c.2253G>A (p.S751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802449C>T" "" "likely benign" "" "0000297034" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "02325" "PKP2_000013" "g.33031955G>A" "" "" "" "PKP2(NM_001005242.3):c.235C>T (p.(Arg79Ter)), PKP2(NM_004572.3):c.235C>T (p.R79*), PKP2(NM_004572.4):c.235C>T (p.R79*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000297035" "0" "30" "12" "32949167" "32949167" "subst" "0.000341178" "02325" "PKP2_000284" "g.32949167T>C" "" "" "" "PKP2(NM_004572.3):c.2365A>G (p.I789V), PKP2(NM_004572.4):c.2365A>G (p.I789V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796233T>C" "" "likely benign" "" "0000297036" "0" "30" "12" "32949101" "32949101" "subst" "0.000901486" "02325" "PKP2_000271" "g.32949101G>T" "" "" "" "PKP2(NM_001005242.2):c.2299C>A (p.(Arg767Ser)), PKP2(NM_004572.3):c.2431C>A (p.R811S), PKP2(NM_004572.4):c.2431C>A (p.R811S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796167G>T" "" "likely benign" "" "0000297037" "0" "10" "12" "32949029" "32949030" "ins" "0.209702" "02325" "PKP2_000393" "g.32949029_32949030insG" "" "" "" "PKP2(NM_004572.3):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13delGinsGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796095_32796096insG" "" "benign" "" "0000297038" "0" "50" "12" "32945585" "32945585" "subst" "4.06154E-6" "02325" "PKP2_000390" "g.32945585T>A" "" "" "" "PKP2(NM_004572.3):c.2570A>T (p.Y857F), PKP2(NM_004572.4):c.2570A>T (p.Y857F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792651T>A" "" "VUS" "" "0000297039" "0" "30" "12" "32945385" "32945385" "subst" "3.65497E-5" "02325" "PKP2_000387" "g.32945385G>A" "" "" "" "PKP2(NM_004572.4):c.2619C>T (p.A873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792451G>A" "" "likely benign" "" "0000297040" "0" "30" "12" "33031395" "33031395" "subst" "0.00231927" "02325" "PKP2_000018" "g.33031395G>A" "" "" "" "PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878461G>A" "" "likely benign" "" "0000297041" "0" "30" "12" "33049621" "33049621" "subst" "0.00011048" "02325" "PKP2_000161" "g.33049621G>A" "" "" "" "PKP2(NM_004572.4):c.45C>T (p.T15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896687G>A" "" "likely benign" "" "0000297042" "0" "30" "12" "33031216" "33031216" "subst" "8.12651E-6" "02325" "PKP2_000326" "g.33031216C>T" "" "" "" "PKP2(NM_004572.4):c.598G>A (p.V200M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878282C>T" "" "likely benign" "" "0000297043" "0" "10" "12" "33049590" "33049590" "subst" "0.00839651" "02325" "PKP2_000001" "g.33049590C>T" "" "" "" "PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896656C>T" "" "benign" "" "0000297044" "0" "90" "12" "33030897" "33030898" "del" "0" "02325" "PKP2_000312" "g.33030897_33030898del" "" "" "" "PKP2(NM_004572.4):c.917_918delCC (p.P306Qfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877963_32877964del" "" "pathogenic" "" "0000297045" "0" "30" "12" "33030863" "33030863" "subst" "0.000537306" "02325" "PKP2_000027" "g.33030863C>T" "" "" "" "PKP2(NM_004572.3):c.951G>A (p.A317=), PKP2(NM_004572.4):c.951G>A (p.A317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877929C>T" "" "likely benign" "" "0000297046" "0" "30" "12" "33030842" "33030842" "subst" "0.000420254" "02325" "PKP2_000029" "g.33030842C>T" "" "" "" "PKP2(NM_004572.3):c.972G>A (p.A324=), PKP2(NM_004572.4):c.972G>A (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877908C>T" "" "likely benign" "" "0000300907" "0" "50" "12" "33003847" "33003847" "subst" "9.34496E-5" "02326" "PKP2_000225" "g.33003847C>T" "" "" "" "PKP2(NM_004572.3):c.1231G>A (p.V411I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850913C>T" "" "VUS" "" "0000300908" "0" "90" "12" "33003700" "33003700" "subst" "0" "02326" "PKP2_000229" "g.33003700C>T" "" "" "" "PKP2(NM_004572.3):c.1378G>A (p.D460N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32850766C>T" "" "pathogenic" "" "0000300909" "0" "30" "12" "32996211" "32996211" "subst" "4.58062E-5" "02326" "PKP2_000356" "g.32996211G>A" "" "" "" "PKP2(NM_004572.3):c.1415C>T (p.P472L), PKP2(NM_004572.4):c.1415C>T (p.P472L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843277G>A" "" "likely benign" "" "0000300910" "0" "50" "12" "32996111" "32996111" "subst" "1.69163E-5" "02326" "PKP2_000051" "g.32996111C>T" "" "" "" "PKP2(NM_004572.3):c.1510+5G>A, PKP2(NM_004572.4):c.1510+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843177C>T" "" "VUS" "" "0000300911" "0" "90" "12" "32994141" "32994141" "subst" "0" "02326" "PKP2_000236" "g.32994141T>C" "" "" "" "PKP2(NM_004572.3):c.1511-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841207T>C" "" "pathogenic" "" "0000300912" "0" "30" "12" "32994073" "32994073" "subst" "0.00244616" "02326" "PKP2_000054" "g.32994073G>A" "" "" "" "PKP2(NM_004572.3):c.1577C>T (p.T526M), PKP2(NM_004572.4):c.1577C>T (p.T526M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841139G>A" "" "likely benign" "" "0000300913" "0" "10" "12" "32993979" "32993979" "subst" "0.000427006" "02326" "PKP2_000344" "g.32993979G>A" "" "" "" "PKP2(NM_004572.3):c.1671C>T (p.N557=), PKP2(NM_004572.4):c.1671C>T (p.N557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841045G>A" "" "benign" "" "0000300915" "0" "50" "12" "32975544" "32975544" "subst" "0" "02326" "PKP2_000411" "g.32975544T>G" "" "" "" "PKP2(NM_004572.3):c.1828A>C (p.I610L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822610T>G" "" "VUS" "" "0000300916" "0" "90" "12" "32975524" "32975524" "subst" "0" "02326" "PKP2_000072" "g.32975524G>T" "" "" "" "PKP2(NM_004572.3):c.1848C>A (p.Y616*), PKP2(NM_004572.4):c.1848C>A (p.Y616*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32822590G>T" "" "pathogenic" "" "0000300917" "0" "30" "12" "33049482" "33049482" "subst" "0.000137621" "02326" "PKP2_000006" "g.33049482G>T" "" "" "" "PKP2(NM_004572.3):c.184C>A (p.Q62K), PKP2(NM_004572.4):c.184C>A (p.Q62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896548G>T" "" "likely benign" "" "0000300918" "0" "30" "12" "33049471" "33049471" "subst" "0.000132484" "02326" "PKP2_000170" "g.33049471G>A" "" "" "" "PKP2(NM_004572.3):c.195C>T (p.A65=), PKP2(NM_004572.4):c.195C>T (p.A65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896537G>A" "" "likely benign" "" "0000300919" "0" "90" "12" "32974401" "32974401" "subst" "0" "02326" "PKP2_000260" "g.32974401C>T" "" "" "" "PKP2(NM_004572.3):c.2034G>A (p.W678*), PKP2(NM_004572.4):c.2034G>A (p.W678*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821467C>T" "" "pathogenic" "" "0000300920" "0" "10" "12" "33049457" "33049457" "subst" "0.0212146" "02326" "PKP2_000011" "g.33049457C>A" "" "" "" "PKP2(NM_001005242.3):c.209G>T (p.(Ser70Ile)), PKP2(NM_004572.3):c.209G>T (p.S70I), PKP2(NM_004572.4):c.209G>T (p.S70I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896523C>A" "" "benign" "" "0000300921" "0" "10" "12" "32974218" "32974218" "subst" "0" "02326" "PKP2_000087" "g.32974218T>C" "" "" "" "PKP2(NM_004572.3):c.2145+72A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821284T>C" "" "benign" "" "0000300922" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "02326" "PKP2_000088" "g.32955491C>G" "" "" "" "PKP2(NM_004572.3):c.2146-1G>C, PKP2(NM_004572.4):c.2146-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000300923" "0" "10" "12" "32955330" "32955330" "subst" "0.0275058" "02326" "PKP2_000096" "g.32955330G>A" "" "" "" "PKP2(NM_001005242.3):c.2167+7C>T, PKP2(NM_004572.3):c.2299+7C>T, PKP2(NM_004572.4):c.2299+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802396G>A" "" "benign" "" "0000300924" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "02326" "PKP2_000013" "g.33031955G>A" "" "" "" "PKP2(NM_001005242.3):c.235C>T (p.(Arg79Ter)), PKP2(NM_004572.3):c.235C>T (p.R79*), PKP2(NM_004572.4):c.235C>T (p.R79*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000300925" "0" "30" "12" "32949101" "32949101" "subst" "0.000901486" "02326" "PKP2_000271" "g.32949101G>T" "" "" "" "PKP2(NM_001005242.2):c.2299C>A (p.(Arg767Ser)), PKP2(NM_004572.3):c.2431C>A (p.R811S), PKP2(NM_004572.4):c.2431C>A (p.R811S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796167G>T" "" "likely benign" "" "0000300926" "0" "10" "12" "32949029" "32949030" "ins" "0.209702" "02326" "PKP2_000393" "g.32949029_32949030insG" "" "" "" "PKP2(NM_004572.3):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13delGinsGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796095_32796096insG" "" "benign" "" "0000300927" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "02326" "PKP2_000107" "g.32949042C>T" "" "" "" "PKP2(NM_004572.3):c.2489+1G>A (p.?), PKP2(NM_004572.4):c.2489+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000300928" "0" "90" "12" "32949039" "32949039" "subst" "0" "02326" "PKP2_000394" "g.32949039T>G" "" "" "" "PKP2(NM_004572.3):c.2489+4A>C, PKP2(NM_004572.4):c.2489+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796105T>G" "" "pathogenic" "" "0000300929" "0" "90" "12" "32945611" "32945611" "subst" "0" "02326" "PKP2_000113" "g.32945611C>T" "" "" "" "PKP2(NM_004572.3):c.2544G>A (p.W848*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792677C>T" "" "pathogenic" "" "0000300930" "0" "50" "12" "32945417" "32945417" "subst" "0" "02326" "PKP2_000389" "g.32945417T>G" "" "" "" "PKP2(NM_004572.3):c.2587A>C (p.K863Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792483T>G" "" "VUS" "" "0000300931" "0" "90" "12" "33031417" "33031417" "subst" "0" "02326" "PKP2_000017" "g.33031417G>A" "" "" "" "PKP2(NM_001005242.2):c.397C>T (p.(Gln133Ter)), PKP2(NM_004572.3):c.397C>T (p.Q133*), PKP2(NM_004572.4):c.397C>T (p.Q133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878483G>A" "" "pathogenic" "" "0000300932" "0" "30" "12" "33031395" "33031395" "subst" "0.00231927" "02326" "PKP2_000018" "g.33031395G>A" "" "" "" "PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878461G>A" "" "likely benign" "" "0000300933" "0" "50" "12" "33031341" "33031341" "subst" "0" "02326" "PKP2_000328" "g.33031341C>A" "" "" "" "PKP2(NM_004572.3):c.473G>T (p.R158M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878407C>A" "" "VUS" "" "0000300934" "0" "70" "12" "33031068" "33031068" "subst" "8.12704E-6" "02326" "PKP2_000319" "g.33031068C>T" "" "" "" "PKP2(NM_004572.3):c.746G>A (p.S249N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878134C>T" "" "likely pathogenic" "" "0000300935" "0" "10" "12" "33049590" "33049590" "subst" "0.00839651" "02326" "PKP2_000001" "g.33049590C>T" "" "" "" "PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896656C>T" "" "benign" "" "0000300936" "0" "50" "12" "33030980" "33030980" "subst" "0" "02326" "PKP2_000314" "g.33030980C>A" "" "" "" "PKP2(NM_004572.3):c.834G>T (p.Q278H), PKP2(NM_004572.4):c.834G>T (p.Q278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878046C>A" "" "VUS" "" "0000305763" "0" "30" "12" "33030802" "33030802" "subst" "0.0022214" "01943" "PKP2_000033" "g.33030802T>C" "" "" "" "PKP2(NM_001005242.3):c.1012A>G (p.(Thr338Ala)), PKP2(NM_004572.3):c.1012A>G (p.T338A), PKP2(NM_004572.4):c.1012A>G (p.T338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877868T>C" "" "likely benign" "" "0000305765" "0" "30" "12" "32996210" "32996210" "subst" "5.00083E-5" "01943" "PKP2_000355" "g.32996210C>T" "" "" "" "PKP2(NM_004572.3):c.1416G>A (p.P472=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32843276C>T" "" "likely benign" "" "0000305766" "0" "30" "12" "32994157" "32994157" "subst" "0.000420327" "01943" "PKP2_000348" "g.32994157T>C" "" "" "" "PKP2(NM_004572.3):c.1511-18A>G, PKP2(NM_004572.4):c.1511-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841223T>C" "" "likely benign" "" "0000305767" "0" "30" "12" "32994073" "32994073" "subst" "0.00244616" "01943" "PKP2_000054" "g.32994073G>A" "" "" "" "PKP2(NM_004572.3):c.1577C>T (p.T526M), PKP2(NM_004572.4):c.1577C>T (p.T526M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841139G>A" "" "likely benign" "" "0000305768" "0" "30" "12" "33049501" "33049501" "subst" "0" "01943" "PKP2_000010" "g.33049501C>A" "" "" "" "PKP2(NM_004572.3):c.165G>T (p.R55=), PKP2(NM_004572.4):c.165G>T (p.R55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896567C>A" "" "likely benign" "" "0000305769" "0" "30" "12" "32993979" "32993979" "subst" "0.000427006" "01943" "PKP2_000344" "g.32993979G>A" "" "" "" "PKP2(NM_004572.3):c.1671C>T (p.N557=), PKP2(NM_004572.4):c.1671C>T (p.N557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32841045G>A" "" "likely benign" "" "0000305771" "0" "50" "12" "32977035" "32977037" "delins" "0" "01943" "PKP2_000412" "g.32977035_32977037delinsATT" "" "" "" "PKP2(NM_004572.3):c.1748_1750delTTGinsAAT (p.I583_D584delinsKY)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32824101_32824103delinsATT" "" "VUS" "" "0000305772" "0" "50" "12" "33049482" "33049482" "subst" "0.000137621" "01943" "PKP2_000006" "g.33049482G>T" "" "" "" "PKP2(NM_004572.3):c.184C>A (p.Q62K), PKP2(NM_004572.4):c.184C>A (p.Q62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896548G>T" "" "VUS" "" "0000305773" "0" "30" "12" "32974355" "32974355" "subst" "2.43754E-5" "01943" "PKP2_000406" "g.32974355C>T" "" "" "" "PKP2(NM_004572.3):c.2080G>A (p.V694I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821421C>T" "" "likely benign" "" "0000305774" "0" "10" "12" "33049457" "33049457" "subst" "0.0212146" "01943" "PKP2_000011" "g.33049457C>A" "" "" "" "PKP2(NM_001005242.3):c.209G>T (p.(Ser70Ile)), PKP2(NM_004572.3):c.209G>T (p.S70I), PKP2(NM_004572.4):c.209G>T (p.S70I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896523C>A" "" "benign" "" "0000305775" "0" "50" "12" "32974314" "32974314" "subst" "4.06184E-6" "01943" "PKP2_000403" "g.32974314C>A" "" "" "" "PKP2(NM_004572.3):c.2121G>T (p.Q707H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32821380C>A" "" "VUS" "" "0000305776" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "01943" "PKP2_000088" "g.32955491C>G" "" "" "" "PKP2(NM_004572.3):c.2146-1G>C, PKP2(NM_004572.4):c.2146-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000305777" "0" "30" "12" "32955383" "32955383" "subst" "4.87413E-5" "01943" "PKP2_000094" "g.32955383C>T" "" "" "" "PKP2(NM_004572.3):c.2253G>A (p.S751=), PKP2(NM_004572.4):c.2253G>A (p.S751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802449C>T" "" "likely benign" "" "0000305778" "0" "10" "12" "32955330" "32955330" "subst" "0.0275058" "01943" "PKP2_000096" "g.32955330G>A" "" "" "" "PKP2(NM_001005242.3):c.2167+7C>T, PKP2(NM_004572.3):c.2299+7C>T, PKP2(NM_004572.4):c.2299+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802396G>A" "" "benign" "" "0000305779" "0" "30" "12" "32949242" "32949242" "subst" "0" "01943" "PKP2_000287" "g.32949242G>T" "" "" "" "PKP2(NM_004572.3):c.2300-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796308G>T" "" "likely benign" "" "0000305780" "0" "30" "12" "32949251" "32949253" "delins" "0" "01943" "PKP2_000293" "g.32949251_32949253delinsTA" "" "" "" "PKP2(NM_004572.3):c.2300-21_2300-19delGTTinsTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796317_32796319delinsTA" "" "likely benign" "" "0000305781" "0" "30" "12" "32949140" "32949140" "subst" "0.00062133" "01943" "PKP2_000283" "g.32949140T>C" "" "" "" "PKP2(NM_004572.3):c.2392A>G (p.T798A), PKP2(NM_004572.4):c.2392A>G (p.T798A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796206T>C" "" "likely benign" "" "0000305782" "0" "30" "12" "32949101" "32949101" "subst" "0.000901486" "01943" "PKP2_000271" "g.32949101G>T" "" "" "" "PKP2(NM_001005242.2):c.2299C>A (p.(Arg767Ser)), PKP2(NM_004572.3):c.2431C>A (p.R811S), PKP2(NM_004572.4):c.2431C>A (p.R811S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796167G>T" "" "likely benign" "" "0000305783" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "01943" "PKP2_000107" "g.32949042C>T" "" "" "" "PKP2(NM_004572.3):c.2489+1G>A (p.?), PKP2(NM_004572.4):c.2489+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000305784" "0" "30" "12" "32945415" "32945415" "subst" "4.06161E-6" "01943" "PKP2_000388" "g.32945415C>T" "" "" "" "PKP2(NM_004572.3):c.2589G>A (p.K863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32792481C>T" "" "likely benign" "" "0000305785" "0" "50" "12" "33031931" "33031931" "subst" "1.21855E-5" "01943" "PKP2_000176" "g.33031931C>G" "" "" "" "PKP2(NM_004572.3):c.259G>C (p.V87L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878997C>G" "" "VUS" "" "0000305786" "0" "30" "12" "33031888" "33031888" "subst" "0.000154346" "01943" "PKP2_000178" "g.33031888C>T" "" "" "" "PKP2(NM_004572.3):c.302G>A (p.R101H), PKP2(NM_004572.4):c.302G>A (p.R101H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878954C>T" "" "likely benign" "" "0000305787" "0" "50" "12" "33031450" "33031450" "subst" "3.29731E-5" "01943" "PKP2_000368" "g.33031450G>A" "" "" "" "PKP2(NM_004572.3):c.364C>T (p.R122C), PKP2(NM_004572.4):c.364C>T (p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878516G>A" "" "VUS" "" "0000305788" "0" "30" "12" "33031395" "33031395" "subst" "0.00231927" "01943" "PKP2_000018" "g.33031395G>A" "" "" "" "PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878461G>A" "" "likely benign" "" "0000305789" "0" "50" "12" "33031350" "33031350" "subst" "5.68556E-5" "01943" "PKP2_000330" "g.33031350C>G" "" "" "" "PKP2(NM_004572.3):c.464G>C (p.S155T), PKP2(NM_004572.4):c.464G>C (p.S155T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878416C>G" "" "VUS" "" "0000305790" "0" "30" "12" "33031309" "33031309" "subst" "0.00116228" "01943" "PKP2_000148" "g.33031309T>C" "" "" "" "PKP2(NM_004572.3):c.505A>G (p.S169G), PKP2(NM_004572.4):c.505A>G (p.S169G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878375T>C" "" "likely benign" "" "0000305791" "0" "90" "12" "33031151" "33031151" "subst" "4.06095E-6" "01943" "PKP2_000021" "g.33031151G>T" "" "" "" "PKP2(NM_004572.3):c.663C>A (p.Y221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878217G>T" "" "pathogenic" "" "0000305792" "0" "50" "12" "33031101" "33031101" "subst" "4.46955E-5" "01943" "PKP2_000196" "g.33031101G>A" "" "" "" "PKP2(NM_004572.3):c.713C>T (p.P238L), PKP2(NM_004572.4):c.713C>T (p.P238L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878167G>A" "" "VUS" "" "0000305793" "0" "10" "12" "33049590" "33049590" "subst" "0.00839651" "01943" "PKP2_000001" "g.33049590C>T" "" "" "" "PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32896656C>T" "" "benign" "" "0000305794" "0" "10" "12" "33030995" "33030995" "subst" "0.00788795" "01943" "PKP2_000024" "g.33030995C>T" "" "" "" "PKP2(NM_004572.3):c.819G>A (p.P273=), PKP2(NM_004572.4):c.819G>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32878061C>T" "" "benign" "" "0000305795" "0" "50" "12" "33030919" "33030919" "subst" "6.91484E-5" "01943" "PKP2_000207" "g.33030919G>A" "" "" "" "PKP2(NM_004572.3):c.895C>T (p.R299C), PKP2(NM_004572.4):c.895C>T (p.R299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877985G>A" "" "VUS" "" "0000305796" "0" "10" "12" "33030875" "33030875" "subst" "0.000573684" "01943" "PKP2_000026" "g.33030875G>A" "" "" "" "PKP2(NM_004572.3):c.939C>T (p.S313=), PKP2(NM_004572.4):c.939C>T (p.S313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877941G>A" "" "benign" "" "0000305797" "0" "10" "12" "33030863" "33030863" "subst" "0.000537306" "01943" "PKP2_000027" "g.33030863C>T" "" "" "" "PKP2(NM_004572.3):c.951G>A (p.A317=), PKP2(NM_004572.4):c.951G>A (p.A317=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877929C>T" "" "benign" "" "0000305798" "0" "50" "12" "33030829" "33030832" "delins" "0" "01943" "PKP2_000306" "g.33030829_33030832delinsA" "" "" "" "PKP2(NM_004572.3):c.982_985delGGAAinsT (p.G328_S329delinsC)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32877895_32877898delinsA" "" "VUS" "" "0000322747" "0" "30" "12" "32949101" "32949101" "subst" "0.000901486" "01804" "PKP2_000271" "g.32949101G>T" "" "" "" "PKP2(NM_001005242.2):c.2299C>A (p.(Arg767Ser)), PKP2(NM_004572.3):c.2431C>A (p.R811S), PKP2(NM_004572.4):c.2431C>A (p.R811S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32796167G>T" "" "likely benign" "" "0000337785" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "02327" "PKP2_000088" "g.32955491C>G" "" "" "" "PKP2(NM_004572.3):c.2146-1G>C, PKP2(NM_004572.4):c.2146-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000356898" "0" "90" "12" "33030844" "33030851" "del" "0" "01807" "PKP2_000279" "g.33030844_33030851del" "" "" "" "968_975delAGGCGGCC" "" "Unknown" "" "" "0" "" "" "g.32877910_32877917del" "" "pathogenic" "" "0000356901" "0" "90" "12" "32949109" "32949109" "dup" "0" "01807" "PKP2_000280" "g.32949109dup" "" "" "" "2423dupA" "" "Unknown" "" "" "0" "" "" "g.32796175dup" "" "pathogenic" "" "0000368343" "0" "50" "12" "33049565" "33049565" "subst" "0" "02438" "PKP2_000331" "g.33049565G>T" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "?" "" "0" "" "" "g.32896631G>T" "" "VUS" "" "0000405542" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "01601" "PKP2_000013" "g.33031955G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000439062" "0" "50" "12" "33030831" "33030831" "subst" "0" "01164" "PKP2_000332" "g.33030831C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32877897C>A" "" "VUS" "ACMG" "0000441407" "0" "11" "12" "33031394" "33031394" "subst" "0" "00802" "PKP2_000019" "g.33031394G>A" "" "" "" "" "" "Germline" "" "rs2389115" "0" "" "" "g.32878460G>A" "" "benign" "" "0000441408" "0" "11" "12" "33031108" "33031108" "subst" "0.00046724" "00802" "PKP2_000022" "g.33031108C>A" "" "" "" "" "" "Germline" "" "rs62001015" "0" "" "" "g.32878174C>A" "" "benign" "" "0000441409" "0" "11" "12" "33031023" "33031023" "subst" "0.00235395" "00802" "PKP2_000023" "g.33031023G>A" "" "" "" "" "" "Germline" "" "rs62001016" "0" "" "" "g.32878089G>A" "" "benign" "" "0000441410" "0" "11" "12" "33030875" "33030875" "subst" "0.000573684" "00802" "PKP2_000026" "g.33030875G>A" "" "" "" "" "" "Germline" "" "rs61729381" "0" "" "" "g.32877941G>A" "" "benign" "" "0000441411" "0" "11" "12" "33030863" "33030863" "subst" "0.000537306" "00802" "PKP2_000027" "g.33030863C>T" "" "" "" "" "" "Germline" "" "rs61729382" "0" "" "" "g.32877929C>T" "" "benign" "" "0000441412" "0" "11" "12" "33021904" "33021904" "subst" "1.62509E-5" "00802" "PKP2_000036" "g.33021904A>G" "" "" "" "" "" "Germline" "" "rs56869013" "0" "" "" "g.32868970A>G" "" "benign" "" "0000441413" "0" "11" "12" "33003755" "33003755" "subst" "0.00011792" "00802" "PKP2_000046" "g.33003755C>A" "" "" "" "" "" "Germline" "" "rs3748278" "0" "" "" "g.32850821C>A" "" "benign" "" "0000441414" "0" "11" "12" "32974218" "32974218" "subst" "0" "00802" "PKP2_000087" "g.32974218T>C" "" "" "" "" "" "Germline" "" "rs7967264" "0" "" "" "g.32821284T>C" "" "benign" "" "0000441415" "0" "11" "12" "0" "0" "ins" "0" "00802" "PKP2_000097" "g.?" "" "" "" "" "" "Germline" "" "rs34158719" "0" "" "" "" "" "benign" "" "0000441416" "0" "11" "12" "32949253" "32949253" "del" "0" "00802" "PKP2_000098" "g.32949253del" "" "" "" "2300-21delG" "" "Germline" "" "rs57690055" "0" "" "" "g.32796319del" "" "benign" "" "0000441417" "0" "11" "12" "32948971" "32948971" "subst" "0" "00802" "PKP2_000109" "g.32948971C>T" "" "" "" "" "" "Germline" "" "rs61927769" "0" "" "" "g.32796037C>T" "" "benign" "" "0000441418" "0" "11" "12" "32945721" "32945721" "subst" "0" "00802" "PKP2_000110" "g.32945721G>T" "" "" "" "" "" "Germline" "" "rs6488091" "0" "" "" "g.32792787G>T" "" "benign" "" "0000441419" "0" "11" "12" "32974523" "32974523" "subst" "0" "00802" "PKP2_000150" "g.32974523C>T" "" "" "" "" "" "Germline" "" "rs73090746" "0" "" "" "g.32821589C>T" "" "benign" "" "0000441999" "0" "30" "12" "32994073" "32994073" "subst" "0.00244616" "00802" "PKP2_000054" "g.32994073G>A" "" "{PMID:Rasmussen 2013:23137101}" "" "" "" "Germline" "" "" "0" "" "" "g.32841139G>A" "" "likely benign" "" "0000442053" "0" "55" "12" "33049590" "33049590" "subst" "0.00839651" "00802" "PKP2_000001" "g.33049590C>T" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7436" "" "" "" "Germline" "" "" "0" "" "" "g.32896656C>T" "" "VUS" "" "0000442054" "0" "15" "12" "33049590" "33049590" "subst" "0.00839651" "00802" "PKP2_000001" "g.33049590C>T" "" "{PMID:Koopmann:17556197}, ARVD/C database 7436" "" "" "" "Germline" "" "" "0" "" "" "g.32896656C>T" "" "benign" "" "0000442055" "0" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000002" "g.33049518_33049521del" "" "escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7437" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442056" "0" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000002" "g.33049518_33049521del" "" "{PMID:Dalal 2006:16549640}, ARVD/C database 7437" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442057" "0" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000002" "g.33049518_33049521del" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7437" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442058" "0" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000003" "g.33049518_33049521del" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7438" "" "148_151delACAG" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442059" "0" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000003" "g.33049518_33049521del" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7438" "" "148_151delACAG" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442060" "0" "11" "12" "33049492" "33049492" "subst" "0.00577997" "00802" "PKP2_000004" "g.33049492C>A" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7439" "" "" "" "Germline" "" "" "0" "" "" "g.32896558C>A" "" "benign" "" "0000442061" "0" "95" "12" "33049490" "33049490" "subst" "6.55811E-5" "00802" "PKP2_000005" "g.33049490T>A" "" "{PMID:Lahtinen:17521752}, ARVD/C database 7440" "" "" "" "Germline" "" "" "0" "" "" "g.32896556T>A" "" "pathogenic" "" "0000442062" "0" "55" "12" "33049482" "33049482" "subst" "0.000137621" "00802" "PKP2_000006" "g.33049482G>T" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7441" "" "" "" "Germline" "" "" "0" "" "" "g.32896548G>T" "" "VUS" "" "0000442063" "0" "55" "12" "33049482" "33049482" "subst" "0.000137621" "00802" "PKP2_000006" "g.33049482G>T" "" "{PMID:Lahtinen:17521752}, ARVD/C database 7441" "" "" "" "Germline" "" "" "0" "" "" "g.32896548G>T" "" "VUS" "" "0000442064" "0" "95" "12" "32975533" "32975533" "subst" "0" "00802" "PKP2_000070" "g.32975533G>C" "" "{PMID:Lahtinen:17521752}, ARVD/C database 7476" "" "" "" "Germline" "" "" "0" "" "" "g.32822599G>C" "" "pathogenic" "" "0000442065" "0" "55" "12" "33049670" "33049670" "subst" "0" "00802" "PKP2_000007" "g.33049670C>A" "" "unpublished, ARVD/C database 7756" "" "" "" "Germline" "" "" "0" "" "" "g.32896736C>A" "" "VUS" "" "0000442066" "0" "99" "12" "33049611" "33049611" "subst" "0" "00802" "PKP2_000008" "g.33049611G>A" "" "unpublished, ARVD/C database 7757" "" "" "" "Germline" "" "" "0" "" "" "g.32896677G>A" "" "pathogenic" "" "0000442067" "0" "75" "12" "33049510" "33049510" "subst" "0.00142456" "00802" "PKP2_000009" "g.33049510C>T" "" "{PMID:Wu:19302745}, ARVD/C database 7758" "" "" "" "Germline" "" "" "0" "" "" "g.32896576C>T" "" "likely pathogenic" "" "0000442068" "0" "55" "12" "33049501" "33049501" "subst" "0" "00802" "PKP2_000010" "g.33049501C>A" "" "unpublished, ARVD/C database 7759" "" "" "" "Germline" "" "" "0" "" "" "g.32896567C>A" "" "VUS" "" "0000442069" "0" "11" "12" "33049457" "33049457" "subst" "0.0212146" "00802" "PKP2_000011" "g.33049457C>A" "" "{PMID:Koopmann:17556197}, ARVD/C database 7587" "" "" "" "Germline" "" "" "0" "" "" "g.32896523C>A" "" "benign" "" "0000442070" "0" "99" "12" "33049450" "33049450" "dup" "0" "00802" "PKP2_000012" "g.33049450dup" "" "Anastasakis (escardio.org ID19 2396), Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7442" "" "216insG" "" "Germline" "" "" "0" "" "" "g.32896516dup" "" "pathogenic" "" "0000442071" "0" "99" "12" "33031955" "33031955" "subst" "4.06296E-6" "00802" "PKP2_000013" "g.33031955G>A" "" "escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7443" "" "" "" "Germline" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000442072" "0" "99" "12" "33031955" "33031955" "subst" "4.06296E-6" "00802" "PKP2_000013" "g.33031955G>A" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7443" "" "" "" "Germline" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000442073" "0" "99" "12" "33031955" "33031955" "subst" "4.06296E-6" "00802" "PKP2_000013" "g.33031955G>A" "" "{PMID:Dalal 2006:16549640}, ARVD/C database 7443" "" "" "" "Germline" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000442074" "0" "99" "12" "33031932" "33031932" "subst" "0" "00802" "PKP2_000014" "g.33031932A>C" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7444" "" "" "" "Germline" "" "" "0" "" "" "g.32878998A>C" "" "pathogenic" "" "0000442075" "0" "55" "12" "33031883" "33031883" "subst" "0.000129975" "00802" "PKP2_000015" "g.33031883G>T" "" "unpublished, ARVD/C database 7623" "" "" "" "Germline" "" "" "0" "" "" "g.32878949G>T" "" "VUS" "" "0000442076" "0" "99" "12" "33031456" "33031456" "subst" "0" "00802" "PKP2_000016" "g.33031456C>A" "" "unpublished, ARVD/C database 7760" "" "" "" "Germline" "" "" "0" "" "" "g.32878522C>A" "" "pathogenic" "" "0000442077" "0" "99" "12" "33031417" "33031417" "subst" "0" "00802" "PKP2_000017" "g.33031417G>A" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7445" "" "" "" "Germline" "" "" "0" "" "" "g.32878483G>A" "" "pathogenic" "" "0000442078" "0" "95" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "pathogenic" "" "0000442079" "0" "95" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{PMID:McKoy:10902626}, {PMID:Antoniades:16893920}, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "pathogenic" "" "0000442080" "0" "95" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "pathogenic" "" "0000442081" "0" "95" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "pathogenic" "" "0000442082" "0" "95" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "pathogenic" "" "0000442083" "0" "15" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{PMID:Koopmann:17556197}, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "benign" "" "0000442084" "0" "99" "12" "33031279" "33031280" "ins" "0" "00802" "PKP2_000338" "g.33031279_33031280insAG" "" "{PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7448" "" "" "" "Germline" "" "" "0" "" "" "g.32878345_32878346insAG" "" "pathogenic" "" "0000442085" "0" "99" "12" "33031151" "33031151" "subst" "4.06095E-6" "00802" "PKP2_000021" "g.33031151G>T" "" "unpublished, ARVD/C database 7761" "" "" "" "Germline" "" "" "0" "" "" "g.32878217G>T" "" "pathogenic" "" "0000442086" "0" "11" "12" "33030995" "33030995" "subst" "0.00788795" "00802" "PKP2_000024" "g.33030995C>T" "" "{PMID:Yu:18632414}, ARVD/C database 7452" "" "" "" "Germline" "" "rs3748279" "0" "" "" "g.32878061C>T" "" "benign" "" "0000442087" "0" "99" "12" "33030897" "33030898" "del" "0" "00802" "PKP2_000025" "g.33030897_33030898del" "" "unpublished, ARVD/C database 7763" "" "917_918delCC" "" "Germline" "" "" "0" "" "" "g.32877963_32877964del" "" "pathogenic" "" "0000442088" "0" "99" "12" "33030831" "33030863" "del" "0" "00802" "PKP2_000028" "g.33030831_33030863del" "" "unpublished, ARVD/C database 7764" "" "951_983delinsAC" "" "Germline" "" "" "0" "" "" "g.32877897_32877929del" "" "pathogenic" "" "0000442089" "0" "55" "12" "32996111" "32996111" "subst" "1.69163E-5" "00802" "PKP2_000051" "g.32996111C>T" "" "unpublished, ARVD/C database 7772" "" "" "" "Germline" "" "" "0" "" "" "g.32843177C>T" "" "VUS" "" "0000442090" "0" "55" "12" "33030842" "33030842" "subst" "0.000420254" "00802" "PKP2_000029" "g.33030842C>T" "" "unpublished, ARVD/C database 7762" "" "" "" "Germline" "" "" "0" "" "" "g.32877908C>T" "" "VUS" "" "0000442091" "0" "99" "12" "33030838" "33030847" "del" "0" "00802" "PKP2_000030" "g.33030838_33030847del" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7456" "" "971_980del10" "" "Germline" "" "" "0" "" "" "g.32877904_32877913del" "" "pathogenic" "" "0000442092" "0" "55" "12" "33030832" "33030832" "subst" "1.22495E-5" "00802" "PKP2_000031" "g.33030832C>T" "" "unpublished, ARVD/C database 7765" "" "" "" "Germline" "" "" "0" "" "" "g.32877898C>T" "" "VUS" "" "0000442093" "0" "55" "12" "33030831" "33030831" "subst" "5.30859E-5" "00802" "PKP2_000032" "g.33030831C>G" "" "unpublished, ARVD/C database 7766" "" "" "" "Germline" "" "" "0" "" "" "g.32877897C>G" "" "VUS" "" "0000442094" "0" "55" "12" "33030802" "33030802" "subst" "0.0022214" "00802" "PKP2_000033" "g.33030802T>C" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7625" "" "" "" "Germline" "" "" "0" "" "" "g.32877868T>C" "" "VUS" "" "0000442095" "0" "11" "12" "33021934" "33021934" "subst" "0.180473" "00802" "PKP2_000034" "g.33021934A>G" "" "{PMID:Koopmann:17556197}, ARVD/C database 7458" "" "" "" "Germline" "" "rs1046116" "0" "" "" "g.32869000A>G" "" "benign" "" "0000442096" "0" "11" "12" "33021917" "33021917" "subst" "0.000597294" "00802" "PKP2_000035" "g.33021917C>G" "" "{PMID:Posch:18678517}, {PMID:Yu:18632414}, ARVD/C database 7767" "" "" "" "Germline" "" "" "0" "" "" "g.32868983C>G" "" "benign" "" "0000442097" "0" "99" "12" "33021899" "33021899" "subst" "4.06299E-6" "00802" "PKP2_000037" "g.33021899G>A" "" "{PMID:Watkins:19880068}, ARVD/C database 7696" "" "" "" "Germline" "" "" "0" "" "" "g.32868965G>A" "" "pathogenic" "" "0000442098" "0" "99" "12" "33021860" "33021860" "subst" "0" "00802" "PKP2_000039" "g.33021860C>G" "" "unpublished, ARVD/C database 7768" "" "" "" "Germline" "" "" "0" "" "" "g.32868926C>G" "" "pathogenic" "" "0000442099" "0" "11" "12" "33003918" "33003918" "subst" "0.00289128" "00802" "PKP2_000040" "g.33003918A>G" "" "unpublished, ARVD/C database 7769" "" "" "" "Germline" "" "" "0" "" "" "g.32850984A>G" "" "benign" "" "0000442100" "0" "99" "12" "33003909" "33003909" "subst" "0" "00802" "PKP2_000041" "g.33003909T>C" "" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7460" "" "" "" "Germline" "" "" "0" "" "" "g.32850975T>C" "" "pathogenic" "" "0000442101" "0" "99" "12" "33003867" "33003867" "dup" "0" "00802" "PKP2_000042" "g.33003867dup" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7461" "" "1211_12120nsT" "" "Germline" "" "" "0" "" "" "g.32850933dup" "" "pathogenic" "" "0000442102" "0" "99" "12" "33003841" "33003841" "subst" "1.21889E-5" "00802" "PKP2_000043" "g.33003841G>A" "" "{PMID:Basso:16774985}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7462" "" "" "" "Germline" "" "" "0" "" "" "g.32850907G>A" "" "pathogenic" "" "0000442103" "0" "99" "12" "33003841" "33003841" "subst" "1.21889E-5" "00802" "PKP2_000043" "g.33003841G>A" "" "ahajournals abstract 114/18, ARVD/C database 7462" "" "" "" "Germline" "" "" "0" "" "" "g.32850907G>A" "" "pathogenic" "" "0000442104" "0" "99" "12" "33003841" "33003841" "subst" "1.21889E-5" "00802" "PKP2_000043" "g.33003841G>A" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7462" "" "" "" "Germline" "" "" "0" "" "" "g.32850907G>A" "" "pathogenic" "" "0000442105" "0" "95" "12" "33003807" "33003807" "subst" "0" "00802" "PKP2_000044" "g.33003807A>G" "" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, ARVD/C database 7463" "" "" "" "Germline" "" "" "0" "" "" "g.32850873A>G" "" "pathogenic" "" "0000442106" "0" "55" "12" "33003782" "33003782" "subst" "0" "00802" "PKP2_000045" "g.33003782C>T" "" "unpublished, ARVD/C database 7770" "" "" "" "Germline" "" "" "0" "" "" "g.32850848C>T" "" "VUS" "" "0000442107" "0" "99" "12" "33003715" "33003715" "del" "0" "00802" "PKP2_000047" "g.33003715del" "" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}, ARVD/C database 7465" "" "1368delA" "" "Germline" "" "" "0" "" "" "g.32850781del" "" "pathogenic" "" "0000442108" "0" "99" "12" "33003709" "33003712" "del" "0" "00802" "PKP2_000048" "g.33003709_33003712del" "" "Anastasakis (escardio.org ID19 2396), Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7466" "" "" "" "Germline" "" "" "0" "" "" "g.32850775_32850778del" "" "pathogenic" "" "0000442109" "0" "99" "12" "33003699" "33003699" "subst" "0" "00802" "PKP2_000049" "g.33003699C>T" "" "{PMID:Fidler:18662195}, ARVD/C database 7698" "" "" "" "Germline" "" "" "0" "" "" "g.32850765C>T" "" "pathogenic" "" "0000442110" "0" "99" "12" "32996248" "32996248" "subst" "9.51727E-5" "00802" "PKP2_000050" "g.32996248C>T" "" "unpublished, ARVD/C database 7771" "" "" "" "Germline" "" "" "0" "" "" "g.32843314C>T" "" "pathogenic" "" "0000442111" "0" "11" "12" "32996038" "32996038" "subst" "0" "00802" "PKP2_000052" "g.32996038C>T" "" "unpublished, ARVD/C database 7611" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000442112" "0" "11" "12" "32994193" "32994193" "subst" "0" "00802" "PKP2_000053" "g.32994193C>T" "" "unpublished, ARVD/C database 7773" "" "" "" "Germline" "" "" "0" "" "" "g.32841259C>T" "" "benign" "" "0000442113" "0" "11" "12" "32994073" "32994073" "subst" "0.00244616" "00802" "PKP2_000054" "g.32994073G>A" "" "{DOI:Albuisson 2007:10.1093/eurheartj/ehm419}, ARVD/C database 7695" "" "" "" "Germline" "" "" "0" "" "" "g.32841139G>A" "" "benign" "" "0000442114" "0" "55" "12" "32994058" "32994058" "subst" "0" "00802" "PKP2_000055" "g.32994058A>G" "" "unpublished, ARVD/C database 7774" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>G" "" "VUS" "" "0000442115" "0" "11" "12" "32994058" "32994058" "subst" "0.00492789" "00802" "PKP2_000056" "g.32994058A>C" "" "unpublished, ARVD/C database 7624" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "benign" "" "0000442116" "0" "99" "12" "32994051" "32994054" "del" "0" "00802" "PKP2_000057" "g.32994051_32994054del" "" "{PMID:Syrris:16415378}, ARVD/C database 7467" "" "1597_1600delATCC" "" "Germline" "" "" "0" "" "" "g.32841117_32841120del" "" "pathogenic" "" "0000442117" "0" "99" "12" "32994037" "32994037" "subst" "1.21874E-5" "00802" "PKP2_000058" "g.32994037C>T" "" "{PMID:Dalal 2006:16549640}, ARVD/C database 7468" "" "" "" "Germline" "" "" "0" "" "" "g.32841103C>T" "" "pathogenic" "" "0000442118" "0" "99" "12" "32994019" "32994020" "ins" "0" "00802" "PKP2_000059" "g.32994019_32994020insAA" "" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7469" "" "1631_1632insTT" "" "Germline" "" "" "0" "" "" "g.32841085_32841086insAA" "" "pathogenic" "" "0000442119" "0" "55" "12" "32994009" "32994009" "subst" "0.000479531" "00802" "PKP2_000060" "g.32994009A>G" "" "unpublished, ARVD/C database 7775" "" "" "" "Germline" "" "" "0" "" "" "g.32841075A>G" "" "VUS" "" "0000442120" "0" "99" "12" "32994008" "32994008" "del" "0" "00802" "PKP2_000337" "g.32994008del" "" "escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7470" "" "1642delG" "" "Germline" "" "" "0" "" "" "g.32841074del" "" "pathogenic" "" "0000442121" "0" "99" "12" "32994008" "32994008" "del" "0" "00802" "PKP2_000337" "g.32994008del" "" "{PMID:Dalal 2006:16549640}, ARVD/C database 7470" "" "1642delG" "" "Germline" "" "" "0" "" "" "g.32841074del" "" "pathogenic" "" "0000442122" "0" "11" "12" "32993935" "32993935" "subst" "0" "00802" "PKP2_000062" "g.32993935A>G" "" "unpublished, ARVD/C database 7776" "" "" "" "Germline" "" "" "0" "" "" "g.32841001A>G" "" "benign" "" "0000442123" "0" "11" "12" "32993933" "32993933" "subst" "0" "00802" "PKP2_000063" "g.32993933C>T" "" "unpublished, ARVD/C database 7777" "" "" "" "Germline" "" "" "0" "" "" "g.32840999C>T" "" "benign" "" "0000442124" "0" "11" "12" "0" "0" "ins" "0" "00802" "PKP2_000064" "g.?" "" "unpublished, ARVD/C database 7778" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000442125" "0" "99" "12" "32977076" "32977076" "del" "0" "00802" "PKP2_000065" "g.32977076del" "" "{PMID:Syrris:16415378}, ARVD/C database 7472" "" "1709delC" "" "Germline" "" "" "0" "" "" "g.32824142del" "" "pathogenic" "" "0000442126" "0" "99" "12" "32977057" "32977060" "dup" "0" "00802" "PKP2_000066" "g.32977057_32977060dup" "" "{PMID:Nagaoka:16799251}, ARVD/C database 7473" "" "" "" "Germline" "" "" "0" "" "" "g.32824123_32824126dup" "" "pathogenic" "" "0000442127" "0" "99" "12" "0" "0" "ins" "0" "00802" "PKP2_000336" "g.?" "" "{PMID:Syrris:16415378}, ARVD/C database 7474" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442128" "0" "95" "12" "32977026" "32977026" "subst" "0.00243541" "00802" "PKP2_000068" "g.32977026C>T" "" "{DOI:Albuisson 2007:10.1093/eurheartj/ehm419}, ARVD/C database 7475" "" "" "" "Germline" "" "" "0" "" "" "g.32824092C>T" "" "pathogenic" "" "0000442129" "0" "95" "12" "32977026" "32977026" "subst" "0.00243541" "00802" "PKP2_000068" "g.32977026C>T" "" "{PMID:Dalal 2006:16549640}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7475" "" "" "" "Germline" "" "" "0" "" "" "g.32824092C>T" "" "pathogenic" "" "0000442130" "0" "55" "12" "32975557" "32975557" "subst" "0" "00802" "PKP2_000069" "g.32975557C>T" "" "unpublished, ARVD/C database 7779" "" "" "" "Germline" "" "" "0" "" "" "g.32822623C>T" "" "VUS" "" "0000442131" "0" "95" "12" "32975528" "32975528" "subst" "0" "00802" "PKP2_000071" "g.32975528G>A" "" "{PMID:Syrris:16415378} , Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7477" "" "" "" "Germline" "" "" "0" "" "" "g.32822594G>A" "" "pathogenic" "" "0000442132" "0" "95" "12" "32975528" "32975528" "subst" "0" "00802" "PKP2_000071" "g.32975528G>A" "" "{PMID:Syrris:16415378}, ARVD/C database 7477" "" "" "" "Germline" "" "" "0" "" "" "g.32822594G>A" "" "pathogenic" "" "0000442133" "0" "99" "12" "32975524" "32975524" "subst" "0" "00802" "PKP2_000072" "g.32975524G>T" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7478" "" "" "" "Germline" "" "" "0" "" "" "g.32822590G>T" "" "pathogenic" "" "0000442134" "0" "95" "12" "32975469" "32975469" "subst" "8.1281E-6" "00802" "PKP2_000073" "g.32975469G>A" "" "{PMID:Fidler:18662195}, ARVD/C database 7700" "" "" "" "Germline" "" "" "0" "" "" "g.32822535G>A" "" "pathogenic" "" "0000442135" "0" "99" "12" "32975460" "32975460" "subst" "4.06392E-6" "00802" "PKP2_000074" "g.32975460G>A" "" "{PMID:Antoniades:16893920}, Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7479" "" "" "" "Germline" "" "" "0" "" "" "g.32822526G>A" "" "pathogenic" "" "0000442136" "0" "99" "12" "32975460" "32975460" "subst" "4.06392E-6" "00802" "PKP2_000074" "g.32975460G>A" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7479" "" "" "" "Germline" "" "" "0" "" "" "g.32822526G>A" "" "pathogenic" "" "0000442137" "0" "99" "12" "32975424" "32975424" "del" "0" "00802" "PKP2_000075" "g.32975424del" "" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7480" "" "1948delA" "" "Germline" "" "" "0" "" "" "g.32822490del" "" "pathogenic" "" "0000442138" "0" "99" "12" "32975421" "32975421" "subst" "4.06408E-6" "00802" "PKP2_000076" "g.32975421G>A" "" "{PMID:Antoniades:16893920}, Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7481" "" "" "" "Germline" "" "" "0" "" "" "g.32822487G>A" "" "pathogenic" "" "0000442139" "0" "95" "12" "32975412" "32975412" "subst" "0" "00802" "PKP2_000077" "g.32975412T>G" "" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7482" "" "" "" "Germline" "" "" "0" "" "" "g.32822478T>G" "" "pathogenic" "" "0000442140" "0" "95" "12" "33021869" "33021869" "subst" "4.06369E-6" "00802" "PKP2_000078" "g.33021869G>A" "" "{PMID:Watkins:19880068}, ARVD/C database 7697" "" "" "" "Germline" "" "" "0" "" "" "g.32868935G>A" "" "pathogenic" "" "0000442141" "0" "99" "12" "32974425" "32974425" "del" "0" "00802" "PKP2_000334" "g.32974425del" "" "{PMID:Dalal 2006:16549640}, ARVD/C database 7484" "" "2011delC" "" "Germline" "" "" "0" "" "" "g.32821491del" "" "pathogenic" "" "0000442142" "0" "99" "12" "32974407" "32974407" "subst" "0" "00802" "PKP2_000080" "g.32974407C>T" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7485" "" "" "" "Germline" "" "" "0" "" "" "g.32821473C>T" "" "pathogenic" "" "0000442143" "0" "95" "12" "32974373" "32974373" "subst" "2.03128E-5" "00802" "PKP2_000081" "g.32974373A>G" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7486" "" "" "" "Germline" "" "" "0" "" "" "g.32821439A>G" "" "pathogenic" "" "0000442144" "0" "99" "12" "32974360" "32974361" "del" "0" "00802" "PKP2_000082" "g.32974360_32974361del" "" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7487" "" "2076_2077delAA" "" "Germline" "" "" "0" "" "" "g.32821426_32821427del" "" "pathogenic" "" "0000442145" "0" "99" "12" "32974349" "32974349" "dup" "0" "00802" "PKP2_000333" "g.32974349dup" "" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7488" "" "2088insA" "" "Germline" "" "" "0" "" "" "g.32821415dup" "" "pathogenic" "" "0000442146" "0" "99" "12" "32974340" "32974340" "subst" "0" "00802" "PKP2_000084" "g.32974340G>A" "" "Anastasakis (escardio.org ID19 2396), Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7489" "" "" "" "Germline" "" "" "0" "" "" "g.32821406G>A" "" "pathogenic" "" "0000442147" "0" "99" "12" "32974316" "32974316" "subst" "0" "00802" "PKP2_000085" "g.32974316G>A" "" "{PMID:Basso:16774985}, ARVD/C database 7490" "" "" "" "Germline" "" "" "0" "" "" "g.32821382G>A" "" "pathogenic" "" "0000442148" "0" "11" "12" "32974245" "32974245" "subst" "0.70471" "00802" "PKP2_000086" "g.32974245C>T" "" "{PMID:Watkins:19880068}, ARVD/C database 7676" "" "IVS10+44G>A" "" "Germline" "" "rs10772008" "0" "" "" "g.32821311C>T" "" "benign" "" "0000442149" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442150" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:Dalal 2006:16549640}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442151" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442152" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442153" "0" "95" "12" "32955470" "32955470" "" "0" "00802" "PKP2_000089" "g.32955470C>R" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7492" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442154" "0" "99" "12" "32955460" "32955460" "subst" "0" "00802" "PKP2_000090" "g.32955460G>A" "" "{PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7493" "" "" "" "Germline" "" "" "0" "" "" "g.32802526G>A" "" "pathogenic" "" "0000442155" "0" "99" "12" "0" "0" "ins" "0" "00802" "PKP2_000091" "g.?" "" "{PMID:Kannankeril:16876743}, ARVD/C database 7494" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442156" "0" "99" "12" "32955434" "32955439" "delins" "0" "00802" "PKP2_000092" "g.32955434_32955439delinsC" "" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7495" "" "" "" "Germline" "" "" "0" "" "" "g.32802500_32802505delinsC" "" "pathogenic" "" "0000442157" "0" "99" "12" "32955434" "32955439" "delins" "0" "00802" "PKP2_000092" "g.32955434_32955439delinsC" "" "{PMID:Syrris:16415378}, ARVD/C database 7495" "" "" "" "Germline" "" "" "0" "" "" "g.32802500_32802505delinsC" "" "pathogenic" "" "0000442158" "0" "99" "12" "32955434" "32955439" "delins" "0" "00802" "PKP2_000092" "g.32955434_32955439delinsC" "" "{PMID:Watkins:19880068} , ARVD/C database 7495" "" "" "" "Germline" "" "" "0" "" "" "g.32802500_32802505delinsC" "" "pathogenic" "" "0000442159" "0" "95" "12" "33021869" "33021869" "subst" "4.06369E-6" "00802" "PKP2_000078" "g.33021869G>A" "" "{PMID:Watkins:19880068} , ARVD/C database 7697" "" "" "" "Germline" "" "" "0" "" "" "g.32868935G>A" "" "pathogenic" "" "0000442160" "0" "99" "12" "32955433" "32955433" "subst" "4.06306E-6" "00802" "PKP2_000093" "g.32955433G>A" "" "{PMID:Syrris:17033975}, Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7496" "" "" "" "Germline" "" "" "0" "" "" "g.32802499G>A" "" "pathogenic" "" "0000442161" "0" "55" "12" "32955383" "32955383" "subst" "4.87413E-5" "00802" "PKP2_000094" "g.32955383C>T" "" "unpublished, ARVD/C database 7780" "" "" "" "Germline" "" "" "0" "" "" "g.32802449C>T" "" "VUS" "" "0000442162" "0" "55" "12" "32955344" "32955344" "subst" "0" "00802" "PKP2_000095" "g.32955344C>T" "" "{PMID:Yu:18632414}, ARVD/C database 7497" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442163" "0" "11" "12" "32955330" "32955330" "subst" "0.0275058" "00802" "PKP2_000096" "g.32955330G>A" "" "{PMID:Koopmann:17556197}, ARVD/C database 7588" "" "" "" "Germline" "" "rs74072938" "0" "" "" "g.32802396G>A" "" "benign" "" "0000442164" "0" "95" "12" "32949146" "32949146" "subst" "0" "00802" "PKP2_000099" "g.32949146A>G" "" "{PMID:Syrris:16415378}, Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7498" "" "" "" "Germline" "" "" "0" "" "" "g.32796212A>G" "" "pathogenic" "" "0000442165" "0" "95" "12" "32949146" "32949146" "subst" "0" "00802" "PKP2_000099" "g.32949146A>G" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7498" "" "" "" "Germline" "" "" "0" "" "" "g.32796212A>G" "" "pathogenic" "" "0000442166" "0" "99" "12" "32949134" "32949142" "del" "0" "00802" "PKP2_000100" "g.32949134_32949142del" "" "{PMID:Pilichou 2006:16505173}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7499" "" "N798fsX879" "" "Germline" "" "" "0" "" "" "g.32796200_32796208del" "" "pathogenic" "" "0000442167" "0" "55" "12" "32949139" "32949139" "subst" "0" "00802" "PKP2_000101" "g.32949139G>C" "" "unpublished, ARVD/C database 7782" "" "" "" "Germline" "" "" "0" "" "" "g.32796205G>C" "" "VUS" "" "0000442168" "0" "99" "12" "32949111" "32949111" "subst" "0" "00802" "PKP2_000102" "g.32949111G>T" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7500" "" "" "" "Germline" "" "" "0" "" "" "g.32796177G>T" "" "pathogenic" "" "0000442169" "0" "99" "12" "32949111" "32949111" "subst" "0" "00802" "PKP2_000102" "g.32949111G>T" "" "{PMID:Otterspoor:18167567}, ARVD/C database 7500" "" "" "" "Germline" "" "" "0" "" "" "g.32796177G>T" "" "pathogenic" "" "0000442170" "0" "99" "12" "32949107" "32949107" "dup" "0" "00802" "PKP2_000103" "g.32949107dup" "" "{PMID:Syrris:16415378} , Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7501" "" "2424insA" "" "Germline" "" "" "0" "" "" "g.32796173dup" "" "pathogenic" "" "0000442171" "0" "99" "12" "32949107" "32949107" "dup" "0" "00802" "PKP2_000103" "g.32949107dup" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7501" "" "2424insA" "" "Germline" "" "" "0" "" "" "g.32796173dup" "" "pathogenic" "" "0000442172" "0" "99" "12" "32949048" "32949048" "subst" "2.03077E-5" "00802" "PKP2_000104" "g.32949048G>A" "" "{PMID:Awad:17041889}, ARVD/C database 7502" "" "" "cryptic splice site" "Germline" "" "" "0" "" "" "g.32796114G>A" "" "pathogenic" "" "0000442173" "0" "55" "12" "32949045" "32949045" "subst" "0.000146211" "00802" "PKP2_000105" "g.32949045A>G" "" "unpublished, ARVD/C database 7783" "" "" "" "Germline" "" "" "0" "" "" "g.32796111A>G" "" "VUS" "" "0000442174" "0" "99" "12" "32949039" "32949039" "subst" "0" "00802" "PKP2_000106" "g.32949039G>T" "" "{PMID:Bhuiyan:20031616}, van der Smagt, ARVD/C database 7586" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442175" "0" "99" "12" "32949042" "32949042" "subst" "2.03077E-5" "00802" "PKP2_000107" "g.32949042C>T" "" "escardio.org (ID24&id=4371:Rampazzo}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7503" "" "" "" "Germline" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000442176" "0" "99" "12" "32949042" "32949042" "subst" "2.03077E-5" "00802" "PKP2_000107" "g.32949042C>T" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7503" "" "" "" "Germline" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000442177" "0" "99" "12" "32949042" "32949042" "subst" "2.03077E-5" "00802" "PKP2_000107" "g.32949042C>T" "" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, ARVD/C database 7503" "" "" "" "Germline" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000442178" "0" "99" "12" "32949042" "32949042" "subst" "2.03077E-5" "00802" "PKP2_000107" "g.32949042C>T" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7503" "" "" "" "Germline" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000442179" "0" "11" "12" "32949029" "32949030" "ins" "0.209702" "00802" "PKP2_000108" "g.32949029_32949030insG" "" "{PMID:Koopmann 2007:17556197}, ARVD/C database 7589" "" "2489+14insC" "" "Germline" "" "" "0" "" "" "g.32796095_32796096insG" "" "benign" "" "0000442180" "0" "99" "12" "32945666" "32945666" "subst" "0" "00802" "PKP2_000111" "g.32945666C>G" "" "{PMID:Antoniades:16893920}, Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7504" "" "" "" "Germline" "" "" "0" "" "" "g.32792732C>G" "" "pathogenic" "" "0000442181" "0" "99" "12" "32945647" "32945647" "del" "0" "00802" "PKP2_000112" "g.32945647del" "" "{PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}, ARVD/C database 7505" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000442182" "0" "99" "12" "32945647" "32945647" "del" "0" "00802" "PKP2_000112" "g.32945647del" "" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}, ARVD/C database 7505" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000442183" "0" "99" "12" "32945647" "32945647" "del" "0" "00802" "PKP2_000112" "g.32945647del" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7505" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000442184" "0" "99" "12" "32945611" "32945611" "subst" "0" "00802" "PKP2_000113" "g.32945611C>T" "" "{PMID:van Tintelen:16567567}, ARVD/C database 7506" "" "" "" "Germline" "" "" "0" "" "" "g.32792677C>T" "" "pathogenic" "" "0000442185" "0" "99" "12" "32944986" "32945586" "del" "0" "00802" "PKP2_000114" "g.32944986_32945586del" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7507" "" "2569_3018del50" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442186" "0" "11" "12" "32945508" "32945508" "subst" "0" "00802" "PKP2_000115" "g.32945508G>T" "" "unpublished, ARVD/C database 7784" "" "" "" "Germline" "" "" "0" "" "" "g.32792574G>T" "" "benign" "" "0000442187" "0" "11" "12" "32945495" "32945495" "subst" "0" "00802" "PKP2_000116" "g.32945495C>T" "" "{PMID:Koopmann:17556197}, ARVD/C database 7590" "" "" "" "Germline" "" "rs7956824" "0" "" "" "g.32792561C>T" "" "benign" "" "0000442188" "0" "11" "12" "32945486" "32945486" "subst" "0" "00802" "PKP2_000117" "g.32945486G>T" "" "{PMID:Koopmann:17556197}, ARVD/C database 7591" "" "" "" "Germline" "" "" "0" "" "" "g.32792552G>T" "" "benign" "" "0000442189" "0" "99" "12" "33031417" "33031417" "subst" "0" "00802" "PKP2_000017" "g.33031417G>A" "" "unpublished, ARVD/C database 7445" "" "" "" "Germline" "" "" "0" "" "" "g.32878483G>A" "" "pathogenic" "" "0000442190" "0" "55" "12" "32945389" "32945389" "subst" "4.06121E-6" "00802" "PKP2_000118" "g.32945389G>A" "" "unpublished, ARVD/C database 7626" "" "" "" "Germline" "" "" "0" "" "" "g.32792455G>A" "" "VUS" "" "0000442191" "0" "55" "12" "32945373" "32945373" "subst" "0.000174628" "00802" "PKP2_000119" "g.32945373G>T" "" "unpublished, ARVD/C database 7627" "" "" "" "Germline" "" "" "0" "" "" "g.32792439G>T" "" "VUS" "" "0000442192" "0" "11" "12" "33049492" "33049492" "subst" "0.00577997" "00802" "PKP2_000004" "g.33049492C>A" "" "{PMID:Lahtinen:17521752}, ARVD/C database 7439" "" "" "" "Germline" "" "" "0" "" "" "g.32896558C>A" "" "benign" "" "0000442193" "0" "11" "12" "33021934" "33021934" "subst" "0.180473" "00802" "PKP2_000034" "g.33021934A>G" "" "{PMID:Lahtinen:17521752}, ARVD/C database 7458" "" "" "" "Germline" "" "rs1046116" "0" "" "" "g.32869000A>G" "" "benign" "" "0000442194" "0" "11" "12" "32994058" "32994058" "subst" "0.00492789" "00802" "PKP2_000056" "g.32994058A>C" "" "{PMID:Lahtinen:17521752}, ARVD/C database 7624" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "benign" "" "0000442195" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:Asimaki:19279339}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442196" "0" "99" "12" "32945647" "32945647" "del" "0" "00802" "PKP2_000112" "g.32945647del" "" "{PMID:Asimaki:19279339}, ARVD/C database 7505" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000442197" "0" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000002" "g.33049518_33049521del" "" "{PMID:Wu:19302745}, ARVD/C database 7437" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442198" "0" "75" "12" "33049510" "33049510" "subst" "0.00142456" "00802" "PKP2_000009" "g.33049510C>T" "" "{PMID:Wu:19302745}, ARVD/C database 7758" "" "" "" "Germline" "" "" "0" "" "" "g.32896576C>T" "" "likely pathogenic" "" "0000442199" "0" "71" "12" "33021934" "33021934" "subst" "0.180473" "00802" "PKP2_000034" "g.33021934A>G" "" "{PMID:Wu:19302745}, ARVD/C database 7458" "" "" "" "Germline" "" "rs1046116" "0" "" "" "g.32869000A>G" "" "likely pathogenic" "" "0000442200" "0" "75" "12" "33031859" "33031859" "subst" "0" "00802" "PKP2_000120" "g.33031859G>A" "" "{PMID:Wu:19302745}, ARVD/C database 7860" "" "" "" "Germline" "" "" "0" "" "" "g.32878925G>A" "" "likely pathogenic" "" "0000442201" "0" "99" "12" "32955491" "32955492" "del" "0" "00802" "PKP2_000121" "g.32955491_32955492del" "" "{PMID:Wu:19302745}, ARVD/C database 7859" "" "2146-1_2146delGA" "" "Germline" "" "" "0" "" "" "g.32802557_32802558del" "" "pathogenic" "" "0000442202" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:Tandri:18554203}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442203" "0" "99" "12" "32949048" "32949048" "subst" "2.03077E-5" "00802" "PKP2_000104" "g.32949048G>A" "" "{PMID:Dalal 2009:19358943}, ARVD/C database 7502" "" "" "cryptic splice site" "Germline" "" "" "0" "" "" "g.32796114G>A" "" "pathogenic" "" "0000442204" "0" "95" "12" "33031341" "33031341" "subst" "6.49788E-5" "00802" "PKP2_000122" "g.33031341C>T" "" "{PMID:Qiu:19427443}, ARVD/C database 7864" "" "" "" "Germline" "" "" "0" "" "" "g.32878407C>T" "" "pathogenic" "" "0000442205" "0" "99" "12" "33031183" "33031183" "subst" "0" "00802" "PKP2_000123" "g.33031183G>A" "" "{PMID:Qiu:19427443}, ARVD/C database 7865" "" "" "" "Germline" "" "" "0" "" "" "g.32878249G>A" "" "pathogenic" "" "0000442206" "0" "95" "12" "33003822" "33003822" "subst" "0" "00802" "PKP2_000124" "g.33003822A>G" "" "{PMID:Qiu:19427443}, ARVD/C database 7866" "" "" "" "Germline" "" "" "0" "" "" "g.32850888A>G" "" "pathogenic" "" "0000442207" "0" "95" "12" "32949154" "32949154" "subst" "1.6247E-5" "00802" "PKP2_000125" "g.32949154G>T" "" "{PMID:Qiu:19427443}, ARVD/C database 7867" "" "" "" "Germline" "" "" "0" "" "" "g.32796220G>T" "" "pathogenic" "" "0000442208" "0" "99" "12" "32945602" "32945602" "del" "0" "00802" "PKP2_000126" "g.32945602del" "" "{PMID:Qiu:19427443}, ARVD/C database 7868" "" "2554delG" "" "Germline" "" "" "0" "" "" "g.32792668del" "" "pathogenic" "" "0000442209" "0" "99" "12" "33021893" "33021893" "subst" "0" "00802" "PKP2_000127" "g.33021893C>A" "" "Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7907" "" "" "" "Germline" "" "" "0" "" "" "g.32868959C>A" "" "pathogenic" "" "0000442210" "0" "99" "12" "32974287" "32974287" "subst" "0" "00802" "PKP2_000128" "g.32974287C>A" "" "Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7908" "" "" "" "Germline" "" "" "0" "" "" "g.32821353C>A" "" "pathogenic" "" "0000442211" "0" "51" "12" "33049492" "33049492" "subst" "0.00577997" "00802" "PKP2_000004" "g.33049492C>A" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7439" "" "" "" "Germline" "" "" "0" "" "" "g.32896558C>A" "" "VUS" "" "0000442212" "0" "99" "12" "33049481" "33049482" "del" "0" "00802" "PKP2_000130" "g.33049481_33049482del" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7885" "" "184_185delCA?" "DNA change not specified" "Germline" "" "" "0" "" "" "g.32896547_32896548del" "" "pathogenic" "" "0000442213" "0" "55" "12" "33031963" "33031963" "subst" "0" "00802" "PKP2_000131" "g.33031963T>C" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7889" "" "" "" "Germline" "" "" "0" "" "" "g.32879029T>C" "" "VUS" "" "0000442214" "0" "75" "12" "33031854" "33031854" "" "0" "00802" "PKP2_000132" "g.33031854C>R" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7887" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000442215" "0" "99" "12" "33031417" "33031417" "subst" "0" "00802" "PKP2_000017" "g.33031417G>A" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7445" "" "" "" "Germline" "" "" "0" "" "" "g.32878483G>A" "" "pathogenic" "" "0000442216" "0" "95" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "pathogenic" "" "0000442217" "0" "95" "12" "33031189" "33031189" "subst" "0" "00802" "PKP2_000133" "g.33031189G>C" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7890" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442218" "0" "99" "12" "33031183" "33031183" "subst" "0" "00802" "PKP2_000123" "g.33031183G>A" "" "escardio.org (ID24&id=4371:Rampazzo}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}, ARVD/C database 7865" "" "630C>T" "" "Germline" "" "" "0" "" "" "g.32878249G>A" "" "pathogenic" "" "0000442219" "0" "99" "12" "32994008" "32994008" "del" "0" "00802" "PKP2_000337" "g.32994008del" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7470" "" "1642delG" "" "Germline" "" "" "0" "" "" "g.32841074del" "" "pathogenic" "" "0000442220" "0" "99" "12" "32974425" "32974425" "del" "0" "00802" "PKP2_000334" "g.32974425del" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7484" "" "2011delC" "" "Germline" "" "" "0" "" "" "g.32821491del" "" "pathogenic" "" "0000442221" "0" "75" "12" "32949199" "32949199" "subst" "0" "00802" "PKP2_000134" "g.32949199A>G" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7888" "" "" "" "Germline" "" "" "0" "" "" "g.32796265A>G" "" "likely pathogenic" "" "0000442222" "0" "99" "12" "32949084" "32949085" "del" "0" "00802" "PKP2_000135" "g.32949084_32949085del" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7886" "" "2447_2448delCC" "" "Germline" "" "" "0" "" "" "g.32796150_32796151del" "" "pathogenic" "" "0000442223" "0" "99" "12" "33049449" "33049450" "dup" "0" "00802" "PKP2_000136" "g.33049449_33049450dup" "" "{PMID:den Haan:20031617}, ARVD/C database 7915" "" "217_218dup" "" "Germline" "" "" "0" "" "" "g.32896515_32896516dup" "" "pathogenic" "" "0000442224" "0" "11" "12" "33031230" "33031230" "subst" "0" "00802" "PKP2_000137" "g.33031230G>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7876" "" "" "" "Germline" "" "" "0" "" "" "g.32878296G>A" "" "benign" "" "0000442225" "0" "11" "12" "33030988" "33030988" "subst" "0.000162705" "00802" "PKP2_000138" "g.33030988G>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7877" "" "" "" "Germline" "" "" "0" "" "" "g.32878054G>A" "" "benign" "" "0000442226" "0" "99" "12" "0" "0" "delins" "0" "00802" "PKP2_000139" "g.?" "" "{PMID:den Haan:20031617}, ARVD/C database 7869" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442227" "0" "95" "12" "32977026" "32977026" "subst" "0.00243541" "00802" "PKP2_000068" "g.32977026C>T" "" "{PMID:den Haan:20031617}, ARVD/C database 7475" "" "" "" "Germline" "" "" "0" "" "" "g.32824092C>T" "" "pathogenic" "" "0000442228" "0" "99" "12" "32974289" "32974289" "subst" "0" "00802" "PKP2_000140" "g.32974289C>G" "" "{PMID:den Haan:20031617}, ARVD/C database 7870" "" "" "" "Germline" "" "" "0" "" "" "g.32821355C>G" "" "pathogenic" "" "0000442229" "0" "95" "12" "32949173" "32949173" "subst" "0" "00802" "PKP2_000141" "g.32949173G>A" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7871" "" "" "" "Germline" "" "" "0" "" "" "g.32796239G>A" "" "pathogenic" "" "0000442230" "0" "99" "12" "32949042" "32949042" "subst" "0" "00802" "PKP2_000142" "g.32949042C>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7872" "" "" "" "Germline" "" "" "0" "" "" "g.32796108C>A" "" "pathogenic" "" "0000442231" "0" "55" "12" "32949044" "32949044" "subst" "1.21842E-5" "00802" "PKP2_000143" "g.32949044C>G" "" "{PMID:den Haan:20031617}, ARVD/C database 7878" "" "" "may alter splicing though mRNA was not available to test further" "Germline" "" "" "0" "" "" "g.32796110C>G" "" "VUS" "" "0000442232" "0" "99" "12" "32974427" "32974427" "del" "0" "00802" "PKP2_000335" "g.32974427del" "" "{PMID:Posch:18678517}, {PMID:Yu:18632414}, ARVD/C database 7483" "" "N670fsX683" "" "Germline" "" "" "0" "" "" "g.32821493del" "" "pathogenic" "" "0000442233" "0" "99" "12" "33031043" "33031043" "del" "0" "00802" "PKP2_000145" "g.33031043del" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7450" "" "771delG? E257fsX262" "DNA change not specified" "Germline" "" "" "0" "" "" "g.32878109del" "" "pathogenic" "" "0000442234" "0" "99" "12" "0" "0" "" "0" "00802" "PKP2_000146" "g.?" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7455" "" "W318fsX327" "DNA change not specified" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000442235" "0" "99" "12" "32977081" "32977081" "del" "0" "00802" "PKP2_000147" "g.32977081del" "" "{DOI:Wlodarska 2008:10.1093/eurheartj/ehn374}, ARVD/C database 7471" "" "1704del? A568fsX576" "DNA change not reported" "Germline" "" "" "0" "" "" "g.32824147del" "" "pathogenic" "" "0000442236" "0" "55" "12" "33031309" "33031309" "subst" "0.00116228" "00802" "PKP2_000148" "g.33031309T>C" "" "unpublished, ARVD/C database 7916" "" "" "" "Germline" "" "" "0" "" "" "g.32878375T>C" "" "VUS" "" "0000442237" "0" "55" "12" "32996158" "32996158" "subst" "0.000428945" "00802" "PKP2_000149" "g.32996158G>A" "" "unpublished, ARVD/C database 7917" "" "" "" "Germline" "" "" "0" "" "" "g.32843224G>A" "" "VUS" "" "0000442238" "0" "55" "12" "32994058" "32994058" "subst" "0.00492789" "00802" "PKP2_000056" "g.32994058A>C" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7624" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "VUS" "" "0000442239" "0" "95" "12" "33049590" "33049590" "subst" "0.00839651" "00802" "PKP2_000001" "g.33049590C>T" "" "{PMID:Krahn:19597050}, ARVD/C database 7436" "" "" "" "Germline" "" "" "0" "" "" "g.32896656C>T" "" "pathogenic" "" "0000442240" "0" "95" "12" "33031405" "33031405" "subst" "4.0654E-6" "00802" "PKP2_000151" "g.33031405C>T" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7962" "" "" "" "Germline" "" "" "0" "" "" "g.32878471C>T" "" "pathogenic" "" "0000442241" "0" "95" "12" "33031309" "33031309" "subst" "0.00116228" "00802" "PKP2_000148" "g.33031309T>C" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7916" "" "" "" "Germline" "" "" "0" "" "" "g.32878375T>C" "" "pathogenic" "" "0000442242" "0" "55" "12" "32994037" "32994037" "subst" "1.21874E-5" "00802" "PKP2_000058" "g.32994037C>T" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7468" "" "" "" "Germline" "" "" "0" "" "" "g.32841103C>T" "" "VUS" "" "0000442243" "0" "99" "12" "32977097" "32977097" "subst" "1.2249E-5" "00802" "PKP2_000152" "g.32977097C>G" "" "{PMID:Barahona-Dussault:19863551}" "" "1690-1G>C" "" "Germline" "" "" "0" "" "" "g.32824163C>G" "" "pathogenic" "" "0000442244" "0" "95" "12" "32975480" "32975480" "subst" "0" "00802" "PKP2_000153" "g.32975480T>C" "" "{PMID:Barahona-Dussault:19863551}" "" "" "" "Germline" "" "" "0" "" "" "g.32822546T>C" "" "pathogenic" "" "0000442245" "0" "99" "12" "32945647" "32945647" "del" "0" "00802" "PKP2_000112" "g.32945647del" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7505" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000442246" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442247" "0" "11" "12" "33021934" "33021934" "subst" "0.180473" "00802" "PKP2_000034" "g.33021934A>G" "" "{PMID:Watkins:19880068} , ARVD/C database 7458" "" "" "" "Germline" "" "rs1046116" "0" "" "" "g.32869000A>G" "" "benign" "" "0000442248" "0" "95" "12" "32996161" "32996161" "subst" "3.93326E-5" "00802" "PKP2_000154" "g.32996161C>T" "" "{PMID:Watkins:19880068} , ARVD/C database 7959)" "" "" "" "Germline" "" "" "0" "" "" "g.32843227C>T" "" "pathogenic" "" "0000442249" "0" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:Watkins:19880068}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442250" "0" "11" "12" "32955330" "32955330" "subst" "0.0275058" "00802" "PKP2_000096" "g.32955330G>A" "" "{PMID:Watkins:19880068} , ARVD/C database 7588" "" "" "" "Germline" "" "rs74072938" "0" "" "" "g.32802396G>A" "" "benign" "" "0000442251" "0" "99" "12" "32945647" "32945647" "del" "0" "00802" "PKP2_000112" "g.32945647del" "" "{PMID:Watkins:19880068} , ARVD/C database 7505" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000442252" "0" "95" "12" "32945615" "32945615" "subst" "0" "00802" "PKP2_000155" "g.32945615A>G" "" "{PMID:Watkins:19880068} , ARVD/C database 7960" "" "" "" "Germline" "" "" "0" "" "" "g.32792681A>G" "" "pathogenic" "" "0000442253" "0" "11" "12" "32945495" "32945495" "subst" "0" "00802" "PKP2_000116" "g.32945495C>T" "" "{PMID:Watkins:19880068} , ARVD/C database 7590" "" "IVS13+83G>A" "" "Germline" "" "rs7956824" "0" "" "" "g.32792561C>T" "" "benign" "" "0000442254" "0" "99" "12" "33030834" "33030835" "dup" "0" "00802" "PKP2_000156" "g.33030834_33030835dup" "" "{PMID:Christensen:19955750}, ARVD/C database 7968" "" "983_984insGG" "" "Germline" "" "" "0" "" "" "g.32877900_32877901dup" "" "pathogenic" "" "0000442255" "0" "99" "12" "33003871" "33003878" "del" "0" "00802" "PKP2_000157" "g.33003871_33003878del" "" "{PMID:Christensen:19955750}, ARVD/C database 7969" "" "1202_1209del8" "" "Germline" "" "" "0" "" "" "g.32850937_32850944del" "" "pathogenic" "" "0000442256" "0" "75" "12" "32974417" "32974417" "subst" "0" "00802" "PKP2_000158" "g.32974417C>A" "" "{PMID:Christensen:19955750}, ARVD/C database 7970" "" "" "" "Germline" "" "" "0" "" "" "g.32821483C>A" "" "likely pathogenic" "" "0000442257" "0" "99" "12" "32955492" "32955492" "subst" "0" "00802" "PKP2_000159" "g.32955492T>A" "" "{PMID:Christensen:19955750}, ARVD/C database 7971" "" "" "" "Germline" "" "" "0" "" "" "g.32802558T>A" "" "pathogenic" "" "0000442258" "0" "55" "12" "33049590" "33049590" "subst" "0.00839651" "00802" "PKP2_000001" "g.33049590C>T" "" "{PMID:Christensen:19955750}, ARVD/C database 7436" "" "" "" "Germline" "" "" "0" "" "" "g.32896656C>T" "" "VUS" "" "0000442259" "0" "55" "12" "33030802" "33030802" "subst" "0.0022214" "00802" "PKP2_000033" "g.33030802T>C" "" "{PMID:Christensen:19955750}, ARVD/C database 7625" "" "" "" "Germline" "" "" "0" "" "" "g.32877868T>C" "" "VUS" "" "0000442260" "0" "55" "12" "33049482" "33049482" "subst" "0.000137621" "00802" "PKP2_000006" "g.33049482G>T" "" "{PMID:Christensen:19955750}, ARVD/C database 7441" "" "" "" "Germline" "" "" "0" "" "" "g.32896548G>T" "" "VUS" "" "0000442261" "0" "99" "12" "33031955" "33031955" "subst" "4.06296E-6" "00802" "PKP2_000013" "g.33031955G>A" "" "{PMID:Christensen:19955750}, ARVD/C database 7443" "" "" "" "Germline" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000442262" "0" "55" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{PMID:Christensen:19955750}, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "VUS" "" "0000442263" "0" "75" "12" "32996161" "32996161" "subst" "3.93326E-5" "00802" "PKP2_000154" "g.32996161C>T" "" "{PMID:Christensen:19955750}, ARVD/C database 7959)" "" "" "" "Germline" "" "" "0" "" "" "g.32843227C>T" "" "likely pathogenic" "" "0000442264" "0" "55" "12" "32977026" "32977026" "subst" "0.00243541" "00802" "PKP2_000068" "g.32977026C>T" "" "{PMID:Christensen:19955750}, ARVD/C database 7475" "" "" "" "Germline" "" "" "0" "" "" "g.32824092C>T" "" "VUS" "" "0000442265" "0" "95" "12" "33021869" "33021869" "subst" "4.06369E-6" "00802" "PKP2_000078" "g.33021869G>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7697" "" "" "" "Germline" "" "" "0" "" "" "g.32868935G>A" "" "pathogenic" "" "0000442266" "0" "99" "12" "32974457" "32974457" "subst" "4.06395E-6" "00802" "PKP2_000160" "g.32974457G>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7972" "" "" "" "Germline" "" "" "0" "" "" "g.32821523G>A" "" "pathogenic" "" "0000442267" "0" "55" "12" "33049621" "33049621" "subst" "0.00011048" "00802" "PKP2_000161" "g.33049621G>A" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7985" "" "" "" "Germline" "" "" "0" "" "" "g.32896687G>A" "" "VUS" "" "0000442268" "0" "55" "12" "33049687" "33049687" "subst" "0.00254447" "00802" "PKP2_000163" "g.33049687G>C" "" "unpublished, ARVD/C database 8064" "" "" "" "Germline" "" "" "0" "" "" "g.32896753G>C" "" "VUS" "" "0000442269" "0" "55" "12" "33031272" "33049665" "del" "0" "00802" "PKP2_000164" "g.33031272_33049665del" "" "unpublished, ARVD/C database 8234" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442270" "0" "90" "12" "32943680" "33049780" "del" "0" "00802" "PKP2_000165" "g.(?_32943680)_(33049780_?)del" "" "unpublished, ARVD/C database 8235" "" "1-?_*?del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442271" "0" "95" "12" "32943680" "33031967" "del" "0" "00802" "PKP2_000166" "g.(?_32943680)_(33031967_33049442)del" "" "unpublished, ARVD/C database 8862" "" "c.224-?_*1-?del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442272" "0" "55" "12" "33049583" "33049583" "del" "0" "00802" "PKP2_000167" "g.33049583del" "" "unpublished, ARVD/C database 8246" "" "83delC" "" "Germline" "" "" "0" "" "" "g.32896649del" "" "VUS" "" "0000442273" "0" "55" "12" "33049491" "33049491" "subst" "0" "00802" "PKP2_000168" "g.33049491G>A" "" "unpublished, ARVD/C database 8299" "" "" "" "Germline" "" "" "0" "" "" "g.32896557G>A" "" "VUS" "" "0000442274" "0" "55" "12" "33049478" "33049478" "dup" "0" "00802" "PKP2_000169" "g.33049478dup" "" "unpublished, ARVD/C database 8255" "" "187_188insC" "" "Germline" "" "" "0" "" "" "g.32896544dup" "" "VUS" "" "0000442275" "0" "55" "12" "33049471" "33049471" "subst" "0.000132484" "00802" "PKP2_000170" "g.33049471G>A" "" "unpublished, ARVD/C database 8122" "" "" "" "Germline" "" "" "0" "" "" "g.32896537G>A" "" "VUS" "" "0000442276" "0" "55" "12" "33049473" "33049473" "subst" "0" "00802" "PKP2_000171" "g.33049473C>A" "" "unpublished, ARVD/C database 8034" "" "" "" "Germline" "" "" "0" "" "" "g.32896539C>A" "" "VUS" "" "0000442277" "0" "55" "12" "33049452" "33049452" "subst" "0" "00802" "PKP2_000172" "g.33049452C>A" "" "unpublished, ARVD/C database 8605" "" "" "" "Germline" "" "" "0" "" "" "g.32896518C>A" "" "VUS" "" "0000442278" "0" "55" "12" "33049442" "33049442" "subst" "0" "00802" "PKP2_000173" "g.33049442C>T" "" "unpublished, ARVD/C database 8022" "" "" "" "Germline" "" "" "0" "" "" "g.32896508C>T" "" "VUS" "" "0000442279" "0" "55" "12" "33031969" "33031969" "subst" "0" "00802" "PKP2_000174" "g.33031969G>C" "" "unpublished, ARVD/C database 8322" "" "" "" "Germline" "" "" "0" "" "" "g.32879035G>C" "" "VUS" "" "0000442280" "0" "55" "12" "33031935" "33031938" "del" "0" "00802" "PKP2_000175" "g.33031935_33031938del" "" "unpublished, ARVD/C database 8023" "" "" "" "Germline" "" "" "0" "" "" "g.32879001_32879004del" "" "VUS" "" "0000442281" "0" "55" "12" "33031931" "33031931" "subst" "1.21855E-5" "00802" "PKP2_000176" "g.33031931C>G" "" "unpublished, ARVD/C database 8035" "" "" "" "Germline" "" "" "0" "" "" "g.32878997C>G" "" "VUS" "" "0000442282" "0" "55" "12" "33031915" "33031915" "subst" "8.12321E-6" "00802" "PKP2_000177" "g.33031915A>T" "" "unpublished, ARVD/C database 8024" "" "" "" "Germline" "" "" "0" "" "" "g.32878981A>T" "" "VUS" "" "0000442283" "0" "55" "12" "33031888" "33031888" "subst" "0.000154346" "00802" "PKP2_000178" "g.33031888C>T" "" "unpublished, ARVD/C database 7986" "" "" "" "Germline" "" "" "0" "" "" "g.32878954C>T" "" "VUS" "" "0000442284" "0" "55" "12" "33031853" "33031853" "subst" "0" "00802" "PKP2_000179" "g.33031853C>T" "" "unpublished, ARVD/C database 8323" "" "" "" "Germline" "" "" "0" "" "" "g.32878919C>T" "" "VUS" "" "0000442285" "0" "55" "12" "33031446" "33031446" "subst" "0" "00802" "PKP2_000180" "g.33031446C>T" "" "unpublished, ARVD/C database 8121" "" "" "" "Germline" "" "" "0" "" "" "g.32878512C>T" "" "VUS" "" "0000442286" "0" "55" "12" "33031396" "33031396" "subst" "4.0622E-6" "00802" "PKP2_000181" "g.33031396A>T" "" "unpublished, ARVD/C database 8075" "" "" "" "Germline" "" "" "0" "" "" "g.32878462A>T" "" "VUS" "" "0000442287" "0" "55" "12" "33031387" "33031387" "subst" "0" "00802" "PKP2_000182" "g.33031387G>A" "" "unpublished, ARVD/C database 8324" "" "" "" "Germline" "" "" "0" "" "" "g.32878453G>A" "" "VUS" "" "0000442288" "0" "55" "12" "33031382" "33031383" "del" "0" "00802" "PKP2_000183" "g.33031382_33031383del" "" "unpublished, ARVD/C database 8274" "" "433_434delCT" "" "Germline" "" "" "0" "" "" "g.32878448_32878449del" "" "VUS" "" "0000442289" "0" "55" "12" "33031358" "33031358" "del" "0" "00802" "PKP2_000184" "g.33031358del" "" "unpublished, ARVD/C database 8325" "" "456delT" "" "Germline" "" "" "0" "" "" "g.32878424del" "" "VUS" "" "0000442290" "0" "55" "12" "33031352" "33031352" "subst" "4.06114E-6" "00802" "PKP2_000185" "g.33031352G>C" "" "unpublished, ARVD/C database 8457" "" "" "" "Germline" "" "" "0" "" "" "g.32878418G>C" "" "VUS" "" "0000442291" "0" "55" "12" "33031322" "33031322" "subst" "4.06299E-6" "00802" "PKP2_000186" "g.33031322G>T" "" "unpublished, ARVD/C database 8120" "" "" "" "Germline" "" "" "0" "" "" "g.32878388G>T" "" "VUS" "" "0000442292" "0" "55" "12" "33031316" "33031316" "subst" "0" "00802" "PKP2_000187" "g.33031316G>C" "" "unpublished, ARVD/C database 8326" "" "" "" "Germline" "" "" "0" "" "" "g.32878382G>C" "" "VUS" "" "0000442293" "0" "55" "12" "33031306" "33031306" "subst" "0" "00802" "PKP2_000188" "g.33031306G>A" "" "unpublished, ARVD/C database 8327" "" "" "" "Germline" "" "" "0" "" "" "g.32878372G>A" "" "VUS" "" "0000442294" "0" "55" "12" "33031298" "33031298" "subst" "8.13557E-6" "00802" "PKP2_000189" "g.33031298G>T" "" "unpublished, ARVD/C database 8604" "" "" "" "Germline" "" "" "0" "" "" "g.32878364G>T" "" "VUS" "" "0000442295" "0" "55" "12" "33031266" "33031266" "subst" "7.74454E-5" "00802" "PKP2_000190" "g.33031266C>T" "" "unpublished, ARVD/C database 8429" "" "" "" "Germline" "" "" "0" "" "" "g.32878332C>T" "" "VUS" "" "0000442296" "0" "55" "12" "33031246" "33031246" "del" "0" "00802" "PKP2_000191" "g.33031246del" "" "unpublished, ARVD/C database 8328" "" "568delG" "" "Germline" "" "" "0" "" "" "g.32878312del" "" "VUS" "" "0000442297" "0" "55" "12" "33031238" "33031238" "subst" "4.88548E-5" "00802" "PKP2_000192" "g.33031238C>T" "" "unpublished, ARVD/C database 8391" "" "" "" "Germline" "" "" "0" "" "" "g.32878304C>T" "" "VUS" "" "0000442298" "0" "55" "12" "33031227" "33031227" "dup" "0" "00802" "PKP2_000193" "g.33031227dup" "" "unpublished, ARVD/C database 8025" "" "" "" "Germline" "" "" "0" "" "" "g.32878293dup" "" "VUS" "" "0000442299" "0" "55" "12" "33031165" "33031168" "del" "0" "00802" "PKP2_000194" "g.33031165_33031168del" "" "unpublished, ARVD/C database 8260" "" "648_651delATAC" "" "Germline" "" "" "0" "" "" "g.32878231_32878234del" "" "VUS" "" "0000442300" "0" "55" "12" "33031156" "33031156" "subst" "0" "00802" "PKP2_000195" "g.33031156G>A" "" "unpublished, ARVD/C database 8082" "" "" "" "Germline" "" "" "0" "" "" "g.32878222G>A" "" "VUS" "" "0000442301" "0" "55" "12" "33031101" "33031101" "subst" "4.46955E-5" "00802" "PKP2_000196" "g.33031101G>A" "" "unpublished, ARVD/C database 8026" "" "" "" "Germline" "" "" "0" "" "" "g.32878167G>A" "" "VUS" "" "0000442302" "0" "55" "12" "33031089" "33031089" "subst" "0.000113772" "00802" "PKP2_000197" "g.33031089G>A" "" "unpublished, ARVD/C database 8193" "" "" "" "Germline" "" "" "0" "" "" "g.32878155G>A" "" "VUS" "" "0000442303" "0" "55" "12" "33031085" "33031085" "subst" "0" "00802" "PKP2_000198" "g.33031085G>C" "" "unpublished, ARVD/C database 8329" "" "" "" "Germline" "" "" "0" "" "" "g.32878151G>C" "" "VUS" "" "0000442304" "0" "55" "12" "33031068" "33031068" "subst" "0" "00802" "PKP2_000199" "g.33031068C>G" "" "unpublished, ARVD/C database 8330" "" "" "" "Germline" "" "" "0" "" "" "g.32878134C>G" "" "VUS" "" "0000442305" "0" "55" "12" "33031055" "33031055" "subst" "0" "00802" "PKP2_000200" "g.33031055G>A" "" "unpublished, ARVD/C database 8240" "" "" "" "Germline" "" "" "0" "" "" "g.32878121G>A" "" "VUS" "" "0000442306" "0" "55" "12" "33031039" "33031039" "subst" "0" "00802" "PKP2_000201" "g.33031039C>A" "" "unpublished, ARVD/C database 8227" "" "" "" "Germline" "" "" "0" "" "" "g.32878105C>A" "" "VUS" "" "0000442307" "0" "55" "12" "33031013" "33031013" "del" "0" "00802" "PKP2_000202" "g.33031013del" "" "unpublished, ARVD/C database 8375" "" "801delT" "" "Germline" "" "" "0" "" "" "g.32878079del" "" "VUS" "" "0000442308" "0" "55" "12" "33031009" "33031009" "subst" "4.06782E-5" "00802" "PKP2_000203" "g.33031009C>T" "" "unpublished, ARVD/C database 8256" "" "" "" "Germline" "" "" "0" "" "" "g.32878075C>T" "" "VUS" "" "0000442309" "0" "55" "12" "33030973" "33030973" "del" "0" "00802" "PKP2_000204" "g.33030973del" "" "unpublished, ARVD/C database 8056" "" "841delA" "" "Germline" "" "" "0" "" "" "g.32878039del" "" "VUS" "" "0000442310" "0" "55" "12" "33030944" "33030944" "subst" "0" "00802" "PKP2_000205" "g.33030944C>T" "" "unpublished, ARVD/C database 8331" "" "" "" "Germline" "" "" "0" "" "" "g.32878010C>T" "" "VUS" "" "0000442311" "0" "55" "12" "33030926" "33030926" "subst" "0" "00802" "PKP2_000206" "g.33030926G>A" "" "unpublished, ARVD/C database 8603" "" "" "" "Germline" "" "" "0" "" "" "g.32877992G>A" "" "VUS" "" "0000442312" "0" "55" "12" "33030919" "33030919" "subst" "6.91484E-5" "00802" "PKP2_000207" "g.33030919G>A" "" "unpublished, ARVD/C database 8332" "" "" "" "Germline" "" "" "0" "" "" "g.32877985G>A" "" "VUS" "" "0000442313" "0" "55" "12" "33030886" "33030886" "subst" "8.54165E-5" "00802" "PKP2_000208" "g.33030886C>T" "" "unpublished, ARVD/C database 8194" "" "" "" "Germline" "" "" "0" "" "" "g.32877952C>T" "" "VUS" "" "0000442314" "0" "55" "12" "33030861" "33030861" "subst" "8.95459E-5" "00802" "PKP2_000209" "g.33030861T>G" "" "unpublished, ARVD/C database 8357" "" "" "" "Germline" "" "" "0" "" "" "g.32877927T>G" "" "VUS" "" "0000442315" "0" "55" "12" "33030842" "33030843" "ins" "0" "00802" "PKP2_000210" "g.33030842_33030843insA" "" "unpublished, ARVD/C database 8381" "" "" "" "Germline" "" "" "0" "" "" "g.32877908_32877909insA" "" "VUS" "" "0000442316" "0" "55" "12" "33030838" "33030838" "subst" "2.44948E-5" "00802" "PKP2_000211" "g.33030838C>T" "" "unpublished, ARVD/C database 8361" "" "" "" "Germline" "" "" "0" "" "" "g.32877904C>T" "" "VUS" "" "0000442317" "0" "55" "12" "33030827" "33030827" "del" "4.0855E-6" "00802" "PKP2_000212" "g.33030827del" "" "unpublished, ARVD/C database 8027" "" "" "" "Germline" "" "" "0" "" "" "g.32877893del" "" "VUS" "" "0000442318" "0" "55" "12" "33030798" "33030798" "subst" "0" "00802" "PKP2_000213" "g.33030798A>G" "" "unpublished, ARVD/C database 8259" "" "" "" "Germline" "" "" "0" "" "" "g.32877864A>G" "" "VUS" "" "0000442319" "0" "55" "12" "33030785" "33030785" "" "0" "00802" "PKP2_000214" "g.33030785C>R" "" "unpublished, ARVD/C database 8203" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442320" "0" "55" "12" "33021968" "33021968" "subst" "1.21961E-5" "00802" "PKP2_000215" "g.33021968G>A" "" "unpublished, ARVD/C database 8305" "" "" "" "Germline" "" "" "0" "" "" "g.32869034G>A" "" "VUS" "" "0000442321" "0" "55" "12" "33021938" "33021938" "subst" "0.000260061" "00802" "PKP2_000216" "g.33021938T>C" "" "unpublished, ARVD/C database 8430" "" "" "" "Germline" "" "" "0" "" "" "g.32869004T>C" "" "VUS" "" "0000442322" "0" "55" "12" "33021915" "33021915" "subst" "0.00101575" "00802" "PKP2_000217" "g.33021915A>G" "" "unpublished, ARVD/C database 7987" "" "" "" "Germline" "" "" "0" "" "" "g.32868981A>G" "" "VUS" "" "0000442323" "0" "55" "12" "33021889" "33021889" "subst" "0" "00802" "PKP2_000218" "g.33021889C>T" "" "unpublished, ARVD/C database 8195" "" "" "" "Germline" "" "" "0" "" "" "g.32868955C>T" "" "VUS" "" "0000442324" "0" "55" "12" "33021860" "33021860" "subst" "0" "00802" "PKP2_000219" "g.33021860C>T" "" "unpublished, ARVD/C database 8333" "" "" "" "Germline" "" "" "0" "" "" "g.32868926C>T" "" "VUS" "" "0000442325" "0" "55" "12" "32975468" "32975468" "subst" "8.12731E-6" "00802" "PKP2_000220" "g.32975468C>T" "" "unpublished, ARVD/C database 8431" "" "" "" "Germline" "" "" "0" "" "" "g.32822534C>T" "" "VUS" "" "0000442326" "0" "55" "12" "33003908" "33003908" "subst" "0" "00802" "PKP2_000221" "g.33003908C>T" "" "unpublished, ARVD/C database 8202" "" "" "" "Germline" "" "" "0" "" "" "g.32850974C>T" "" "VUS" "" "0000442327" "0" "55" "12" "33003901" "33003901" "subst" "0" "00802" "PKP2_000222" "g.33003901G>A" "" "unpublished, ARVD/C database 8307" "" "" "" "Germline" "" "" "0" "" "" "g.32850967G>A" "" "VUS" "" "0000442328" "0" "55" "12" "33003873" "33003873" "del" "0" "00802" "PKP2_000223" "g.33003873del" "" "unpublished, ARVD/C database 8028" "" "" "" "Germline" "" "" "0" "" "" "g.32850939del" "" "VUS" "" "0000442329" "0" "55" "12" "33003847" "33003847" "dup" "0" "00802" "PKP2_000224" "g.33003847dup" "" "unpublished, ARVD/C database 8029" "" "" "" "Germline" "" "" "0" "" "" "g.32850913dup" "" "VUS" "" "0000442330" "0" "55" "12" "33003847" "33003847" "subst" "9.34496E-5" "00802" "PKP2_000225" "g.33003847C>T" "" "unpublished, ARVD/C database 8204" "" "" "" "Germline" "" "" "0" "" "" "g.32850913C>T" "" "VUS" "" "0000442331" "0" "55" "12" "33003812" "33003813" "del" "0" "00802" "PKP2_000226" "g.33003812_33003813del" "" "unpublished, ARVD/C database 8143" "" "1265_1266delTT" "" "Germline" "" "" "0" "" "" "g.32850878_32850879del" "" "VUS" "" "0000442332" "0" "55" "12" "33003706" "33003706" "subst" "0.00111932" "00802" "PKP2_000227" "g.33003706T>C" "" "unpublished, ARVD/C database 8735" "" "" "" "Germline" "" "" "0" "" "" "g.32850772T>C" "" "VUS" "" "0000442333" "0" "55" "12" "33003704" "33003704" "del" "0" "00802" "PKP2_000228" "g.33003704del" "" "unpublished, ARVD/C database 8376" "" "1375delA" "" "Germline" "" "" "0" "" "" "g.32850770del" "" "VUS" "" "0000442334" "0" "55" "12" "33003700" "33003700" "subst" "0" "00802" "PKP2_000229" "g.33003700C>T" "" "unpublished, ARVD/C database 7988" "" "" "" "Germline" "" "" "0" "" "" "g.32850766C>T" "" "VUS" "" "0000442335" "0" "55" "12" "33003699" "33003699" "subst" "4.07309E-6" "00802" "PKP2_000230" "g.33003699C>G" "" "unpublished, ARVD/C database 8030" "" "" "" "Germline" "" "" "0" "" "" "g.32850765C>G" "" "VUS" "" "0000442336" "0" "55" "12" "32996269" "32996269" "subst" "0.000282111" "00802" "PKP2_000231" "g.32996269C>T" "" "unpublished, ARVD/C database 8119" "" "" "" "Germline" "" "" "0" "" "" "g.32843335C>T" "" "VUS" "" "0000442337" "0" "55" "12" "32996205" "32996205" "subst" "0.000175582" "00802" "PKP2_000232" "g.32996205G>A" "" "unpublished, ARVD/C database 8196" "" "" "" "Germline" "" "" "0" "" "" "g.32843271G>A" "" "VUS" "" "0000442338" "0" "55" "12" "32996204" "32996204" "subst" "0" "00802" "PKP2_000233" "g.32996204C>T" "" "unpublished, ARVD/C database 8392" "" "" "" "Germline" "" "" "0" "" "" "g.32843270C>T" "" "VUS" "" "0000442339" "0" "55" "12" "32996206" "32996206" "subst" "0.000188015" "00802" "PKP2_000234" "g.32996206C>T" "" "unpublished, ARVD/C database 8734" "" "" "" "Germline" "" "" "0" "" "" "g.32843272C>T" "" "VUS" "" "0000442340" "0" "55" "12" "32996183" "32996187" "del" "0" "00802" "PKP2_000235" "g.32996183_32996187del" "" "unpublished, ARVD/C database 8306" "" "1440_1444del5" "" "Germline" "" "" "0" "" "" "g.32843249_32843253del" "" "VUS" "" "0000442341" "0" "55" "12" "32994141" "32994141" "subst" "0" "00802" "PKP2_000236" "g.32994141T>C" "" "unpublished, ARVD/C database 8118" "" "" "" "Germline" "" "" "0" "" "" "g.32841207T>C" "" "VUS" "" "0000442342" "0" "55" "12" "32994133" "32994133" "subst" "4.0844E-6" "00802" "PKP2_000237" "g.32994133A>G" "" "unpublished, ARVD/C database 8280" "" "" "" "Germline" "" "" "0" "" "" "g.32841199A>G" "" "VUS" "" "0000442343" "0" "55" "12" "32993981" "32993983" "del" "0" "00802" "PKP2_000238" "g.32993981_32993983del" "" "unpublished, ARVD/C database 8335" "" "1669_1671delAAC" "" "Germline" "" "" "0" "" "" "g.32841047_32841049del" "" "VUS" "" "0000442344" "0" "55" "12" "32994074" "32994074" "subst" "0.000138141" "00802" "PKP2_000239" "g.32994074T>C" "" "unpublished, ARVD/C database 8321" "" "" "" "Germline" "" "" "0" "" "" "g.32841140T>C" "" "VUS" "" "0000442345" "0" "55" "12" "32994070" "32994070" "subst" "0" "00802" "PKP2_000240" "g.32994070A>G" "" "unpublished, ARVD/C database 8424" "" "" "" "Germline" "" "" "0" "" "" "g.32841136A>G" "" "VUS" "" "0000442346" "0" "55" "12" "32994053" "32994053" "del" "0" "00802" "PKP2_000241" "g.32994053del" "" "unpublished, ARVD/C database 8334" "" "1597delA" "" "Germline" "" "" "0" "" "" "g.32841119del" "" "VUS" "" "0000442347" "0" "55" "12" "32994032" "32994032" "subst" "0" "00802" "PKP2_000242" "g.32994032C>T" "" "unpublished, ARVD/C database 8261" "" "" "" "Germline" "" "" "0" "" "" "g.32841098C>T" "" "VUS" "" "0000442348" "0" "55" "12" "32994014" "32994014" "subst" "0.000361683" "00802" "PKP2_000243" "g.32994014C>T" "" "unpublished, ARVD/C database 8197" "" "" "" "Germline" "" "" "0" "" "" "g.32841080C>T" "" "VUS" "" "0000442349" "0" "55" "12" "32993997" "32994006" "del" "0" "00802" "PKP2_000244" "g.32993997_32994006del" "" "unpublished, ARVD/C database 8058" "" "" "" "Germline" "" "" "0" "" "" "g.32841063_32841072del" "" "VUS" "" "0000442350" "0" "55" "12" "32993961" "32993961" "subst" "4.06881E-6" "00802" "PKP2_000245" "g.32993961C>T" "" "unpublished, ARVD/C database 8031" "" "" "" "Germline" "" "" "0" "" "" "g.32841027C>T" "" "VUS" "" "0000442351" "0" "55" "12" "32976979" "32977096" "del" "0" "00802" "PKP2_000246" "g.32976979_32977096del" "" "unpublished, ARVD/C database 8236" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442352" "0" "55" "12" "32977091" "32977091" "subst" "0" "00802" "PKP2_000247" "g.32977091A>C" "" "unpublished, ARVD/C database 8300" "" "" "" "Germline" "" "" "0" "" "" "g.32824157A>C" "" "VUS" "" "0000442353" "0" "55" "12" "32977043" "32977043" "subst" "1.2197E-5" "00802" "PKP2_000248" "g.32977043C>T" "" "unpublished, ARVD/C database 8609" "" "" "" "Germline" "" "" "0" "" "" "g.32824109C>T" "" "VUS" "" "0000442354" "0" "55" "12" "32977036" "32977036" "subst" "0" "00802" "PKP2_000249" "g.32977036A>C" "" "unpublished, ARVD/C database 8336" "" "" "" "Germline" "" "" "0" "" "" "g.32824102A>C" "" "VUS" "" "0000442355" "0" "55" "12" "32977027" "32977027" "del" "0" "00802" "PKP2_000250" "g.32977027del" "" "unpublished, ARVD/C database 8084" "" "1759delG" "" "Germline" "" "" "0" "" "" "g.32824093del" "" "VUS" "" "0000442356" "0" "55" "12" "32976986" "32976986" "del" "0" "00802" "PKP2_000251" "g.32976986del" "" "unpublished, ARVD/C database 8226" "" "1799delA" "" "Germline" "" "" "0" "" "" "g.32824052del" "" "VUS" "" "0000442357" "0" "55" "12" "32976982" "32976982" "del" "0" "00802" "PKP2_000252" "g.32976982del" "" "unpublished, ARVD/C database 8083" "" "1803delC" "" "Germline" "" "" "0" "" "" "g.32824048del" "" "VUS" "" "0000442358" "0" "55" "12" "32975540" "32975540" "subst" "0" "00802" "PKP2_000253" "g.32975540A>C" "" "unpublished, ARVD/C database 8388" "" "" "" "Germline" "" "" "0" "" "" "g.32822606A>C" "" "VUS" "" "0000442359" "0" "55" "12" "32975531" "32975531" "subst" "0" "00802" "PKP2_000254" "g.32975531A>G" "" "unpublished, ARVD/C database 8380" "" "" "" "Germline" "" "" "0" "" "" "g.32822597A>G" "" "VUS" "" "0000442360" "0" "55" "12" "32975529" "32975529" "subst" "0" "00802" "PKP2_000255" "g.32975529A>T" "" "unpublished, ARVD/C database 8262" "" "" "" "Germline" "" "" "0" "" "" "g.32822595A>T" "" "VUS" "" "0000442361" "0" "55" "12" "32975483" "32975483" "subst" "1.21919E-5" "00802" "PKP2_000256" "g.32975483A>G" "" "unpublished, ARVD/C database 8736" "" "" "" "Germline" "" "" "0" "" "" "g.32822549A>G" "" "VUS" "" "0000442362" "0" "55" "12" "32975451" "32975453" "del" "0" "00802" "PKP2_000257" "g.32975451_32975453del" "" "unpublished, ARVD/C database 8257" "" "N641del" "" "Germline" "" "" "0" "" "" "g.32822517_32822519del" "" "VUS" "" "0000442363" "0" "55" "12" "32974442" "32974442" "subst" "0" "00802" "PKP2_000258" "g.32974442G>A" "" "unpublished, ARVD/C database 8258" "" "" "" "Germline" "" "" "0" "" "" "g.32821508G>A" "" "VUS" "" "0000442364" "0" "55" "12" "32974441" "32974441" "subst" "4.46962E-5" "00802" "PKP2_000259" "g.32974441G>C" "" "unpublished, ARVD/C database 8337" "" "" "" "Germline" "" "" "0" "" "" "g.32821507G>C" "" "VUS" "" "0000442365" "0" "55" "12" "32974401" "32974401" "subst" "0" "00802" "PKP2_000260" "g.32974401C>T" "" "unpublished, ARVD/C database 8243" "" "" "" "Germline" "" "" "0" "" "" "g.32821467C>T" "" "VUS" "" "0000442366" "0" "55" "12" "32974377" "32974377" "subst" "0" "00802" "PKP2_000261" "g.32974377A>C" "" "unpublished, ARVD/C database 8032" "" "" "" "Germline" "" "" "0" "" "" "g.32821443A>C" "" "VUS" "" "0000442367" "0" "55" "12" "32974352" "32974352" "subst" "0.000134056" "00802" "PKP2_000262" "g.32974352G>A" "" "unpublished, ARVD/C database 8198" "" "" "" "Germline" "" "" "0" "" "" "g.32821418G>A" "" "VUS" "" "0000442368" "0" "55" "12" "32943680" "32955491" "dup" "0" "00802" "PKP2_000263" "g.(?_32943680)_(32955491_32974289)dup" "" "unpublished, ARVD/C database 8272" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000442369" "0" "55" "12" "32955486" "32955486" "subst" "0.000121944" "00802" "PKP2_000264" "g.32955486G>A" "" "unpublished, ARVD/C database 8358" "" "" "" "Germline" "" "" "0" "" "" "g.32802552G>A" "" "VUS" "" "0000442370" "0" "55" "12" "32955462" "32955462" "subst" "0" "00802" "PKP2_000265" "g.32955462A>T" "" "unpublished, ARVD/C database 8085" "" "" "" "Germline" "" "" "0" "" "" "g.32802528A>T" "" "VUS" "" "0000442371" "0" "55" "12" "32955457" "32955457" "subst" "0" "00802" "PKP2_000266" "g.32955457T>A" "" "unpublished, ARVD/C database 8338" "" "" "" "Germline" "" "" "0" "" "" "g.32802523T>A" "" "VUS" "" "0000442372" "0" "55" "12" "32955419" "32955420" "del" "0" "00802" "PKP2_000267" "g.32955419_32955420del" "" "unpublished, ARVD/C database 8308" "" "2216_2217delAT" "" "Germline" "" "" "0" "" "" "g.32802485_32802486del" "" "VUS" "" "0000442373" "0" "55" "12" "32955400" "32955400" "del" "0" "00802" "PKP2_000268" "g.32955400del" "" "unpublished, ARVD/C database 8339" "" "2240delA" "" "Germline" "" "" "0" "" "" "g.32802466del" "" "VUS" "" "0000442374" "0" "55" "12" "32955378" "32955378" "subst" "4.06171E-6" "00802" "PKP2_000269" "g.32955378A>T" "" "unpublished, ARVD/C database 8229" "" "" "" "Germline" "" "" "0" "" "" "g.32802444A>T" "" "VUS" "" "0000442375" "0" "55" "12" "32949229" "32949229" "subst" "5.30218E-5" "00802" "PKP2_000270" "g.32949229T>G" "" "unpublished, ARVD/C database 8199" "" "" "" "Germline" "" "" "0" "" "" "g.32796295T>G" "" "VUS" "" "0000442376" "0" "55" "12" "32949101" "32949101" "subst" "0.000901486" "00802" "PKP2_000271" "g.32949101G>T" "" "unpublished, ARVD/C database 8033" "" "" "" "Germline" "" "" "0" "" "" "g.32796167G>T" "" "VUS" "" "0000442377" "0" "55" "12" "32949098" "32949098" "subst" "4.8729E-5" "00802" "PKP2_000272" "g.32949098C>T" "" "unpublished, ARVD/C database 8200" "" "" "" "Germline" "" "" "0" "" "" "g.32796164C>T" "" "VUS" "" "0000442378" "0" "55" "12" "32949076" "32949076" "subst" "0" "00802" "PKP2_000273" "g.32949076A>T" "" "unpublished, ARVD/C database 8228" "" "" "" "Germline" "" "" "0" "" "" "g.32796142A>T" "" "VUS" "" "0000442379" "0" "55" "12" "32949047" "32949047" "subst" "0.000312734" "00802" "PKP2_000274" "g.32949047C>T" "" "unpublished, ARVD/C database 8201" "" "" "" "Germline" "" "" "0" "" "" "g.32796113C>T" "" "VUS" "" "0000442380" "0" "55" "12" "32945615" "32945615" "del" "0" "00802" "PKP2_000275" "g.32945615del" "" "unpublished, ARVD/C database 8304" "" "2540delT" "" "Germline" "" "" "0" "" "" "g.32792681del" "" "VUS" "" "0000442381" "0" "55" "12" "32945429" "32945429" "subst" "0" "00802" "PKP2_000276" "g.32945429T>C" "" "unpublished, ARVD/C database 8389" "" "" "" "Germline" "" "" "0" "" "" "g.32792495T>C" "" "VUS" "" "0000442382" "0" "55" "12" "32945424" "32945424" "subst" "0" "00802" "PKP2_000277" "g.32945424A>G" "" "unpublished, ARVD/C database 8390" "" "" "" "Germline" "" "" "0" "" "" "g.32792490A>G" "" "VUS" "" "0000442383" "0" "99" "12" "32945647" "32945647" "del" "0" "00802" "PKP2_000112" "g.32945647del" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7505" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000442384" "1" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000003" "g.33049518_33049521del" "" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}, ARVD/C database 7438" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442385" "0" "95" "12" "33031395" "33031395" "subst" "0.00231927" "00802" "PKP2_000018" "g.33031395G>A" "" "{PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}, ARVD/C database 7446" "" "" "" "Germline" "" "" "0" "" "" "g.32878461G>A" "" "pathogenic" "" "0000442386" "1" "99" "12" "32955491" "32955491" "subst" "3.65824E-5" "00802" "PKP2_000088" "g.32955491C>G" "" "{PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}, ARVD/C database 7491" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442387" "0" "99" "12" "33003841" "33003841" "subst" "1.21889E-5" "00802" "PKP2_000043" "g.33003841G>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7462" "" "" "" "Germline" "" "" "0" "" "" "g.32850907G>A" "" "pathogenic" "" "0000442388" "0" "99" "12" "33049518" "33049521" "del" "0" "00802" "PKP2_000002" "g.33049518_33049521del" "" "{PMID:Posch:18678517}, {PMID:Yu:18632414}, ARVD/C database 7437" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000442389" "0" "75" "12" "33049482" "33049482" "subst" "0.000137621" "00802" "PKP2_000006" "g.33049482G>T" "" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}, ARVD/C database 7441" "" "" "" "Germline" "" "" "0" "" "" "g.32896548G>T" "" "likely pathogenic" "" "0000442390" "0" "99" "12" "32974316" "32974316" "subst" "0" "00802" "PKP2_000085" "g.32974316G>A" "" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}, ARVD/C database 7490" "" "" "" "Germline" "" "" "0" "" "" "g.32821382G>A" "" "pathogenic" "" "0000442391" "0" "95" "12" "32955432" "32955432" "subst" "7.31356E-5" "00802" "PKP2_000129" "g.32955432C>T" "" "Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7909" "" "" "" "Germline" "" "" "0" "" "" "g.32802498C>T" "" "pathogenic" "" "0000442392" "21" "99" "12" "33003867" "33003867" "dup" "0" "00802" "PKP2_000042" "g.33003867dup" "" "{PMID:Xu 2010:20152563}, ARVD/C database 7461" "" "1211_12120nsT" "non-affected carrier mother/sister" "Germline" "" "" "0" "" "" "g.32850933dup" "" "pathogenic (dominant)" "" "0000442393" "0" "95" "12" "32994058" "32994058" "subst" "0.00492789" "00802" "PKP2_000056" "g.32994058A>C" "" "{PMID:Xu 2010:20152563}, ARVD/C database 7624" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "pathogenic" "" "0000442394" "0" "95" "12" "32993995" "32993995" "subst" "8.12975E-6" "00802" "PKP2_000162" "g.32993995A>C" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7984" "" "" "" "Germline" "" "" "0" "" "" "g.32841061A>C" "" "pathogenic" "" "0000442395" "0" "55" "12" "33049492" "33049492" "subst" "0.00577997" "03133" "PKP2_000004" "g.33049492C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32896558C>A" "" "VUS" "" "0000442448" "11" "90" "12" "33049482" "33049482" "subst" "0.000137621" "00006" "PKP2_000006" "g.33049482G>T" "" "{PMID:Bauce 2010:20129281}" "" "" "variant in 5 other family members, 3 affected" "Germline" "" "" "0" "" "" "g.32896548G>T" "" "pathogenic (dominant)" "" "0000442449" "21" "90" "12" "32974316" "32974316" "subst" "0" "00006" "PKP2_000085" "g.32974316G>A" "" "{PMID:Bauce 2010:20129281}" "" "" "variant in 9 other family members (young), 1 affected" "Germline" "" "" "0" "" "" "g.32821382G>A" "" "VUS" "" "0000442452" "20" "90" "12" "33049518" "33049521" "del" "0" "00006" "PKP2_000002" "g.33049518_33049521del" "" "{PMID:Bauce 2010:20129281}" "" "c.145_148delCAGA" "variant in 7 other family members (young), 2 affected" "Germline" "yes" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic (dominant)" "" "0000442453" "0" "50" "12" "32949199" "32949199" "subst" "0" "00006" "PKP2_000134" "g.32949199A>G" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32796265A>G" "" "VUS" "" "0000442455" "0" "50" "12" "33031187" "33031187" "subst" "0" "00006" "PKP2_000413" "g.33031187G>C" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32878253G>C" "" "VUS" "" "0000442456" "0" "90" "12" "32949084" "32949085" "del" "0" "00006" "PKP2_000135" "g.32949084_32949085del" "" "{PMID:Xu 2010:20152563}" "" "2447_2448delCC" "" "Germline" "" "" "0" "" "" "g.32796150_32796151del" "" "pathogenic (dominant)" "" "0000442459" "0" "50" "12" "33021917" "33021917" "subst" "0.000597294" "00006" "PKP2_000035" "g.33021917C>G" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32868983C>G" "" "VUS" "" "0000442460" "1" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "00006" "PKP2_000088" "g.32955491C>G" "" "{PMID:Xu 2010:20152563}" "" "2145-1G>C" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000442462" "1" "90" "12" "32994037" "32994037" "subst" "1.21874E-5" "00006" "PKP2_000058" "g.32994037C>T" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32841103C>T" "" "pathogenic" "" "0000442463" "0" "50" "12" "32975458" "32975458" "subst" "0" "00006" "PKP2_000414" "g.32975458C>G" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32822524C>G" "" "VUS" "" "0000442466" "0" "90" "12" "32994037" "32994037" "subst" "1.21874E-5" "00006" "PKP2_000058" "g.32994037C>T" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32841103C>T" "" "pathogenic" "" "0000442467" "0" "50" "12" "32994058" "32994058" "subst" "0.00492789" "00006" "PKP2_000056" "g.32994058A>C" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "VUS" "" "0000442468" "0" "50" "12" "32949173" "32949173" "subst" "0" "00006" "PKP2_000141" "g.32949173G>A" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32796239G>A" "" "VUS" "" "0000442469" "0" "90" "12" "33049518" "33049521" "del" "0" "00006" "PKP2_000002" "g.33049518_33049521del" "" "{PMID:Xu 2010:20152563}" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic (dominant)" "" "0000442470" "0" "50" "12" "32994058" "32994058" "subst" "0.00492789" "00006" "PKP2_000056" "g.32994058A>C" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.32841124A>C" "" "VUS" "" "0000442471" "0" "90" "12" "33049518" "33049521" "del" "0" "00006" "PKP2_000002" "g.33049518_33049521del" "" "{PMID:Xu 2010:20152563}" "" "145_148delCAGA" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic (dominant)" "" "0000547837" "0" "10" "12" "32945077" "32945077" "subst" "0" "02327" "PKP2_000415" "g.32945077T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792143T>C" "" "benign" "" "0000547838" "0" "10" "12" "32945107" "32945107" "subst" "0" "02327" "PKP2_000416" "g.32945107G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792173G>C" "" "benign" "" "0000547839" "0" "30" "12" "32945131" "32945131" "subst" "0" "02327" "PKP2_000417" "g.32945131A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792197A>C" "" "likely benign" "" "0000547840" "0" "30" "12" "32945286" "32945286" "subst" "0" "02327" "PKP2_000418" "g.32945286T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792352T>G" "" "likely benign" "" "0000547841" "0" "30" "12" "32945308" "32945309" "ins" "0" "02327" "PKP2_000419" "g.32945308_32945309insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792374_32792375insT" "" "likely benign" "" "0000547842" "0" "30" "12" "32945373" "32945373" "subst" "0.000174628" "02330" "PKP2_000119" "g.32945373G>T" "" "" "" "PKP2(NM_004572.4):c.2631C>A (p.H877Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792439G>T" "" "likely benign" "" "0000547843" "0" "90" "12" "32945374" "32945375" "dup" "0" "02330" "PKP2_000420" "g.32945374_32945375dup" "" "" "" "PKP2(NM_004572.4):c.2630_2631dupAC (p.S878Tfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792440_32792441dup" "" "pathogenic" "" "0000547844" "0" "10" "12" "32945389" "32945389" "subst" "4.06121E-6" "02330" "PKP2_000118" "g.32945389G>A" "" "" "" "PKP2(NM_001005242.3):c.2483C>T (p.(Thr828Ile)), PKP2(NM_004572.3):c.2615C>T (p.T872I), PKP2(NM_004572.4):c.2615C>T (p.T872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792455G>A" "" "benign" "" "0000547845" "0" "50" "12" "32945389" "32945389" "subst" "4.06121E-6" "01943" "PKP2_000118" "g.32945389G>A" "" "" "" "PKP2(NM_001005242.3):c.2483C>T (p.(Thr828Ile)), PKP2(NM_004572.3):c.2615C>T (p.T872I), PKP2(NM_004572.4):c.2615C>T (p.T872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792455G>A" "" "VUS" "" "0000547847" "0" "50" "12" "32945389" "32945389" "subst" "4.06121E-6" "02326" "PKP2_000118" "g.32945389G>A" "" "" "" "PKP2(NM_001005242.3):c.2483C>T (p.(Thr828Ile)), PKP2(NM_004572.3):c.2615C>T (p.T872I), PKP2(NM_004572.4):c.2615C>T (p.T872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792455G>A" "" "VUS" "" "0000547848" "0" "50" "12" "32945392" "32945392" "subst" "6.09196E-5" "02330" "PKP2_000421" "g.32945392C>T" "" "" "" "PKP2(NM_004572.4):c.2612G>A (p.R871Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792458C>T" "" "VUS" "" "0000547849" "0" "30" "12" "32945437" "32945437" "dup" "0" "02327" "PKP2_000422" "g.32945437dup" "" "" "" "PKP2(NM_004572.4):c.2578-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792503dup" "" "likely benign" "" "0000547850" "0" "10" "12" "32945437" "32945437" "dup" "0" "02330" "PKP2_000422" "g.32945437dup" "" "" "" "PKP2(NM_004572.4):c.2578-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792503dup" "" "benign" "" "0000547851" "0" "10" "12" "32945486" "32945486" "subst" "0" "02327" "PKP2_000117" "g.32945486G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792552G>T" "" "benign" "" "0000547852" "0" "10" "12" "32945495" "32945495" "subst" "0" "02327" "PKP2_000116" "g.32945495C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792561C>T" "" "benign" "" "0000547853" "0" "50" "12" "32945602" "32945602" "del" "0" "02327" "PKP2_000126" "g.32945602del" "" "" "" "PKP2(NM_004572.4):c.2554delG (p.E852Nfs*79)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792668del" "" "VUS" "" "0000547854" "0" "90" "12" "32945647" "32945647" "del" "0" "02327" "PKP2_000112" "g.32945647del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792713del" "" "pathogenic" "" "0000547855" "0" "50" "12" "32945648" "32945648" "subst" "1.21866E-5" "02330" "PKP2_000423" "g.32945648G>T" "" "" "" "PKP2(NM_004572.4):c.2507C>A (p.A836E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792714G>T" "" "VUS" "" "0000547856" "0" "10" "12" "32945721" "32945721" "subst" "0" "02327" "PKP2_000110" "g.32945721G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792787G>T" "" "benign" "" "0000547857" "0" "10" "12" "32945769" "32945769" "subst" "0" "02327" "PKP2_000424" "g.32945769G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792835G>C" "" "benign" "" "0000547858" "0" "10" "12" "32949028" "32949029" "ins" "0" "02327" "PKP2_000425" "g.32949028_32949029insG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796094_32796095insG" "" "benign" "" "0000547859" "0" "10" "12" "32949029" "32949030" "ins" "0.209702" "01943" "PKP2_000108" "g.32949029_32949030insG" "" "" "" "PKP2(NM_004572.3):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13delGinsGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796095_32796096insG" "" "benign" "" "0000547860" "0" "10" "12" "32949029" "32949030" "ins" "0.209702" "02327" "PKP2_000108" "g.32949029_32949030insG" "" "" "" "PKP2(NM_004572.3):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13_2489+14insC, PKP2(NM_004572.4):c.2489+13delGinsGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796095_32796096insG" "" "benign" "" "0000547861" "0" "10" "12" "32949030" "32949031" "ins" "0" "02330" "PKP2_000426" "g.32949030_32949031insG" "" "" "" "PKP2(NM_004572.3):c.2489+12_2489+13insC, PKP2(NM_004572.4):c.2489+12_2489+13insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796096_32796097insG" "" "benign" "" "0000547862" "0" "30" "12" "32949030" "32949031" "ins" "0" "02326" "PKP2_000426" "g.32949030_32949031insG" "" "" "" "PKP2(NM_004572.3):c.2489+12_2489+13insC, PKP2(NM_004572.4):c.2489+12_2489+13insC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796096_32796097insG" "" "likely benign" "" "0000547863" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "02327" "PKP2_000107" "g.32949042C>T" "" "" "" "PKP2(NM_004572.3):c.2489+1G>A (p.?), PKP2(NM_004572.4):c.2489+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796108C>T" "" "pathogenic" "" "0000547864" "0" "30" "12" "32949047" "32949047" "subst" "0.000312734" "02326" "PKP2_000274" "g.32949047C>T" "" "" "" "PKP2(NM_004572.3):c.2485G>A (p.D829N), PKP2(NM_004572.4):c.2485G>A (p.D829N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796113C>T" "" "likely benign" "" "0000547865" "0" "90" "12" "32949054" "32949054" "del" "0" "02325" "PKP2_000427" "g.32949054del" "" "" "" "PKP2(NM_004572.4):c.2478delT (p.S826Rfs*105)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796120del" "" "pathogenic" "" "0000547866" "0" "30" "12" "32949092" "32949092" "subst" "0" "02327" "PKP2_000428" "g.32949092G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796158G>A" "" "likely benign" "" "0000547867" "0" "50" "12" "32949098" "32949098" "subst" "4.8729E-5" "02325" "PKP2_000272" "g.32949098C>T" "" "" "" "PKP2(NM_004572.4):c.2434G>A (p.D812N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796164C>T" "" "VUS" "" "0000547868" "0" "30" "12" "32949099" "32949099" "subst" "5.27893E-5" "02327" "PKP2_000429" "g.32949099G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796165G>A" "" "likely benign" "" "0000547869" "0" "50" "12" "32949136" "32949136" "subst" "0" "02330" "PKP2_000430" "g.32949136A>G" "" "" "" "PKP2(NM_004572.4):c.2396T>C (p.L799S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796202A>G" "" "VUS" "" "0000547870" "0" "90" "12" "32949146" "32949146" "subst" "0" "01943" "PKP2_000099" "g.32949146A>G" "" "" "" "PKP2(NM_004572.3):c.2386T>C (p.C796R), PKP2(NM_004572.4):c.2386T>C (p.C796R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796212A>G" "" "pathogenic" "" "0000547872" "0" "30" "12" "32949171" "32949171" "subst" "8.12295E-6" "02327" "PKP2_000431" "g.32949171A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796237A>C" "" "likely benign" "" "0000547873" "0" "30" "12" "32949174" "32949174" "subst" "4.06174E-6" "02327" "PKP2_000432" "g.32949174G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796240G>A" "" "likely benign" "" "0000547874" "0" "50" "12" "32949187" "32949187" "subst" "0" "02326" "PKP2_000395" "g.32949187A>G" "" "" "" "PKP2(NM_004572.3):c.2345T>C (p.V782A), PKP2(NM_004572.4):c.2345T>C (p.V782A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796253A>G" "" "VUS" "" "0000547875" "0" "30" "12" "32949207" "32949207" "subst" "0" "02327" "PKP2_000433" "g.32949207A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796273A>C" "" "likely benign" "" "0000547876" "0" "30" "12" "32949236" "32949236" "subst" "0" "01943" "PKP2_000434" "g.32949236C>A" "" "" "" "PKP2(NM_004572.3):c.2300-4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796302C>A" "" "likely benign" "" "0000547878" "0" "10" "12" "32949243" "32949244" "ins" "0" "02330" "PKP2_000435" "g.32949243_32949244insGAAA" "" "" "" "PKP2(NM_004572.4):c.2300-10_2300-9insTCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796309_32796310insGAAA" "" "benign" "" "0000547879" "0" "10" "12" "32949251" "32949252" "dup" "0" "02330" "PKP2_000436" "g.32949251_32949252dup" "" "" "" "PKP2(NM_004572.4):c.2300-12_2300-11dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796317_32796318dup" "" "benign" "" "0000547880" "0" "10" "12" "32949252" "32949252" "dup" "0" "02330" "PKP2_000437" "g.32949252dup" "" "" "" "PKP2(NM_004572.3):c.2300-11dupT, PKP2(NM_004572.4):c.2300-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796318dup" "" "benign" "" "0000547881" "0" "30" "12" "32949252" "32949252" "dup" "0" "01943" "PKP2_000437" "g.32949252dup" "" "" "" "PKP2(NM_004572.3):c.2300-11dupT, PKP2(NM_004572.4):c.2300-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796318dup" "" "likely benign" "" "0000547882" "0" "10" "12" "32949252" "32949252" "dup" "0" "02326" "PKP2_000437" "g.32949252dup" "" "" "" "PKP2(NM_004572.3):c.2300-11dupT, PKP2(NM_004572.4):c.2300-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796318dup" "" "benign" "" "0000547883" "0" "10" "12" "32949253" "32949254" "del" "0" "02330" "PKP2_000438" "g.32949253_32949254del" "" "" "" "PKP2(NM_004572.3):c.2300-21_2300-20delGT, PKP2(NM_004572.4):c.2300-21_2300-20delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796319_32796320del" "" "benign" "" "0000547884" "0" "10" "12" "32949253" "32949254" "del" "0" "02326" "PKP2_000438" "g.32949253_32949254del" "" "" "" "PKP2(NM_004572.3):c.2300-21_2300-20delGT, PKP2(NM_004572.4):c.2300-21_2300-20delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796319_32796320del" "" "benign" "" "0000547885" "0" "10" "12" "32955330" "32955330" "subst" "0.0275058" "02327" "PKP2_000096" "g.32955330G>A" "" "" "" "PKP2(NM_001005242.3):c.2167+7C>T, PKP2(NM_004572.3):c.2299+7C>T, PKP2(NM_004572.4):c.2299+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32802396G>A" "" "benign" "" "0000547886" "0" "50" "12" "32955363" "32955363" "subst" "4.06194E-5" "02327" "PKP2_000439" "g.32955363C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32802429C>T" "" "VUS" "" "0000547887" "0" "50" "12" "32955378" "32955378" "subst" "0" "02327" "PKP2_000398" "g.32955378A>G" "" "" "" "PKP2(NM_004572.3):c.2258T>C (p.L753P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32802444A>G" "" "VUS" "" "0000547888" "0" "30" "12" "32955383" "32955383" "subst" "4.87413E-5" "02327" "PKP2_000094" "g.32955383C>T" "" "" "" "PKP2(NM_004572.3):c.2253G>A (p.S751=), PKP2(NM_004572.4):c.2253G>A (p.S751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32802449C>T" "" "likely benign" "" "0000547889" "0" "90" "12" "32955433" "32955433" "subst" "4.06306E-6" "02330" "PKP2_000093" "g.32955433G>A" "" "" "" "PKP2(NM_004572.4):c.2203C>T (p.R735*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32802499G>A" "" "pathogenic" "" "0000547890" "0" "30" "12" "32955450" "32955450" "subst" "0" "02327" "PKP2_000440" "g.32955450C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32802516C>T" "" "likely benign" "" "0000547891" "0" "10" "12" "32955506" "32955506" "subst" "4.06676E-6" "02330" "PKP2_000441" "g.32955506T>C" "" "" "" "PKP2(NM_004572.4):c.2146-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32802572T>C" "" "benign" "" "0000547892" "0" "10" "12" "32974218" "32974218" "subst" "0" "02327" "PKP2_000087" "g.32974218T>C" "" "" "" "PKP2(NM_004572.3):c.2145+72A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821284T>C" "" "benign" "" "0000547893" "0" "10" "12" "32974245" "32974245" "subst" "0.70471" "02327" "PKP2_000086" "g.32974245C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821311C>T" "" "benign" "" "0000547894" "0" "50" "12" "32974301" "32974301" "subst" "1.21871E-5" "02330" "PKP2_000442" "g.32974301C>T" "" "" "" "PKP2(NM_004572.4):c.2134G>A (p.G712R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821367C>T" "" "VUS" "" "0000547895" "0" "30" "12" "32974301" "32974301" "subst" "1.21871E-5" "02327" "PKP2_000442" "g.32974301C>T" "" "" "" "PKP2(NM_004572.4):c.2134G>A (p.G712R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821367C>T" "" "likely benign" "" "0000547896" "0" "30" "12" "32974348" "32974348" "subst" "0.000154351" "02326" "PKP2_000405" "g.32974348T>C" "" "" "" "PKP2(NM_004572.3):c.2087A>G (p.N696S), PKP2(NM_004572.4):c.2087A>G (p.N696S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821414T>C" "" "likely benign" "" "0000547897" "0" "50" "12" "32974352" "32974352" "subst" "0.000134056" "01804" "PKP2_000262" "g.32974352G>A" "" "" "" "PKP2(NM_001005242.2):c.1951C>T (p.(Arg651Cys)), PKP2(NM_004572.4):c.2083C>T (p.R695C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821418G>A" "" "VUS" "" "0000547898" "0" "30" "12" "32974352" "32974352" "subst" "0.000134056" "02327" "PKP2_000262" "g.32974352G>A" "" "" "" "PKP2(NM_001005242.2):c.1951C>T (p.(Arg651Cys)), PKP2(NM_004572.4):c.2083C>T (p.R695C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821418G>A" "" "likely benign" "" "0000547899" "0" "50" "12" "32974358" "32974358" "subst" "8.12466E-6" "02327" "PKP2_000443" "g.32974358T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821424T>C" "" "VUS" "" "0000547900" "0" "90" "12" "32974425" "32974425" "del" "0" "02325" "PKP2_000334" "g.32974425del" "" "" "" "PKP2(NM_004572.4):c.2013delC (p.K672Rfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821491del" "" "pathogenic" "" "0000547901" "0" "50" "12" "32975415" "32975415" "subst" "1.21883E-5" "02330" "PKP2_000444" "g.32975415T>C" "" "" "" "PKP2(NM_004572.4):c.1957A>G (p.R653G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32822481T>C" "" "VUS" "" "0000547902" "0" "90" "12" "32975524" "32975524" "subst" "0" "02327" "PKP2_000072" "g.32975524G>T" "" "" "" "PKP2(NM_004572.3):c.1848C>A (p.Y616*), PKP2(NM_004572.4):c.1848C>A (p.Y616*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32822590G>T" "" "pathogenic" "" "0000547903" "0" "70" "12" "32975528" "32975528" "subst" "0" "02326" "PKP2_000071" "g.32975528G>A" "" "" "" "PKP2(NM_004572.3):c.1844C>T (p.S615F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32822594G>A" "" "likely pathogenic" "" "0000547904" "0" "50" "12" "32977004" "32977004" "subst" "0" "02330" "PKP2_000379" "g.32977004A>G" "" "" "" "PKP2(NM_001005242.2):c.1649T>C (p.(Ile550Thr)), PKP2(NM_004572.4):c.1781T>C (p.I594T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824070A>G" "" "VUS" "" "0000547905" "0" "10" "12" "32977026" "32977026" "subst" "0.00243541" "02330" "PKP2_000068" "g.32977026C>T" "" "" "" "PKP2(NM_001005242.3):c.1627G>A (p.(Val543Ile)), PKP2(NM_004572.3):c.1759G>A (p.V587I), PKP2(NM_004572.4):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824092C>T" "" "benign" "" "0000547906" "0" "30" "12" "32977026" "32977026" "subst" "0.00243541" "01943" "PKP2_000068" "g.32977026C>T" "" "" "" "PKP2(NM_001005242.3):c.1627G>A (p.(Val543Ile)), PKP2(NM_004572.3):c.1759G>A (p.V587I), PKP2(NM_004572.4):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824092C>T" "" "likely benign" "" "0000547907" "0" "30" "12" "32977026" "32977026" "subst" "0.00243541" "02325" "PKP2_000068" "g.32977026C>T" "" "" "" "PKP2(NM_001005242.3):c.1627G>A (p.(Val543Ile)), PKP2(NM_004572.3):c.1759G>A (p.V587I), PKP2(NM_004572.4):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824092C>T" "" "likely benign" "" "0000547908" "0" "10" "12" "32977026" "32977026" "subst" "0.00243541" "02326" "PKP2_000068" "g.32977026C>T" "" "" "" "PKP2(NM_001005242.3):c.1627G>A (p.(Val543Ile)), PKP2(NM_004572.3):c.1759G>A (p.V587I), PKP2(NM_004572.4):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824092C>T" "" "benign" "" "0000547909" "0" "30" "12" "32977033" "32977033" "subst" "0" "02327" "PKP2_000445" "g.32977033G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824099G>A" "" "likely benign" "" "0000547910" "0" "90" "12" "32977097" "32977097" "subst" "1.2249E-5" "02327" "PKP2_000152" "g.32977097C>G" "" "" "" "PKP2(NM_004572.4):c.1689-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824163C>G" "" "pathogenic" "" "0000547911" "0" "30" "12" "32977109" "32977109" "dup" "0" "02325" "PKP2_000341" "g.32977109dup" "" "" "" "PKP2(NM_001005242.3):c.1557-8dup, PKP2(NM_004572.3):c.1689-8dupT, PKP2(NM_004572.4):c.1689-14delGinsGT, PKP2(NM_004572.4):c.1689-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824175dup" "" "likely benign" "" "0000547912" "0" "10" "12" "32977109" "32977109" "dup" "0" "01943" "PKP2_000341" "g.32977109dup" "" "" "" "PKP2(NM_001005242.3):c.1557-8dup, PKP2(NM_004572.3):c.1689-8dupT, PKP2(NM_004572.4):c.1689-14delGinsGT, PKP2(NM_004572.4):c.1689-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824175dup" "" "benign" "" "0000547913" "0" "10" "12" "32977109" "32977109" "dup" "0" "02326" "PKP2_000341" "g.32977109dup" "" "" "" "PKP2(NM_001005242.3):c.1557-8dup, PKP2(NM_004572.3):c.1689-8dupT, PKP2(NM_004572.4):c.1689-14delGinsGT, PKP2(NM_004572.4):c.1689-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824175dup" "" "benign" "" "0000547914" "0" "10" "12" "32977109" "32977109" "dup" "0" "01804" "PKP2_000341" "g.32977109dup" "" "" "" "PKP2(NM_001005242.3):c.1557-8dup, PKP2(NM_004572.3):c.1689-8dupT, PKP2(NM_004572.4):c.1689-14delGinsGT, PKP2(NM_004572.4):c.1689-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824175dup" "" "benign" "" "0000547915" "0" "10" "12" "32977109" "32977109" "dup" "0" "02327" "PKP2_000341" "g.32977109dup" "" "" "" "PKP2(NM_001005242.3):c.1557-8dup, PKP2(NM_004572.3):c.1689-8dupT, PKP2(NM_004572.4):c.1689-14delGinsGT, PKP2(NM_004572.4):c.1689-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824175dup" "" "benign" "" "0000547916" "0" "10" "12" "32993953" "32993953" "subst" "0.000431526" "02330" "PKP2_000446" "g.32993953T>C" "" "" "" "PKP2(NM_004572.3):c.1688+9A>G, PKP2(NM_004572.4):c.1688+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841019T>C" "" "benign" "" "0000547917" "0" "30" "12" "32993953" "32993953" "subst" "0.000431526" "01943" "PKP2_000446" "g.32993953T>C" "" "" "" "PKP2(NM_004572.3):c.1688+9A>G, PKP2(NM_004572.4):c.1688+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841019T>C" "" "likely benign" "" "0000547918" "0" "10" "12" "32994058" "32994058" "subst" "0.00492789" "02330" "PKP2_000056" "g.32994058A>C" "" "" "" "PKP2(NM_001005242.2):c.1460T>G (p.(Ile487Ser)), PKP2(NM_004572.3):c.1592T>G (p.I531S), PKP2(NM_004572.4):c.1592T>G (p.I531S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841124A>C" "" "benign" "" "0000547919" "0" "50" "12" "32994058" "32994058" "subst" "0.00492789" "01943" "PKP2_000056" "g.32994058A>C" "" "" "" "PKP2(NM_001005242.2):c.1460T>G (p.(Ile487Ser)), PKP2(NM_004572.3):c.1592T>G (p.I531S), PKP2(NM_004572.4):c.1592T>G (p.I531S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841124A>C" "" "VUS" "" "0000547920" "0" "30" "12" "32994058" "32994058" "subst" "0.00492789" "01804" "PKP2_000056" "g.32994058A>C" "" "" "" "PKP2(NM_001005242.2):c.1460T>G (p.(Ile487Ser)), PKP2(NM_004572.3):c.1592T>G (p.I531S), PKP2(NM_004572.4):c.1592T>G (p.I531S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841124A>C" "" "likely benign" "" "0000547921" "0" "30" "12" "32994058" "32994058" "subst" "0.00492789" "02325" "PKP2_000056" "g.32994058A>C" "" "" "" "PKP2(NM_001005242.2):c.1460T>G (p.(Ile487Ser)), PKP2(NM_004572.3):c.1592T>G (p.I531S), PKP2(NM_004572.4):c.1592T>G (p.I531S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841124A>C" "" "likely benign" "" "0000547922" "0" "30" "12" "32994058" "32994058" "subst" "0.00492789" "02326" "PKP2_000056" "g.32994058A>C" "" "" "" "PKP2(NM_001005242.2):c.1460T>G (p.(Ile487Ser)), PKP2(NM_004572.3):c.1592T>G (p.I531S), PKP2(NM_004572.4):c.1592T>G (p.I531S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841124A>C" "" "likely benign" "" "0000547923" "0" "30" "12" "32994069" "32994069" "subst" "0" "02327" "PKP2_000447" "g.32994069C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841135C>T" "" "likely benign" "" "0000547925" "0" "30" "12" "32994074" "32994074" "subst" "0.000138141" "01943" "PKP2_000239" "g.32994074T>C" "" "" "" "PKP2(NM_004572.3):c.1576A>G (p.T526A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841140T>C" "" "likely benign" "" "0000547926" "0" "30" "12" "32994077" "32994077" "subst" "0" "02326" "PKP2_000346" "g.32994077G>C" "" "" "" "PKP2(NM_004572.3):c.1573C>G (p.L525V), PKP2(NM_004572.4):c.1573C>G (p.L525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841143G>C" "" "likely benign" "" "0000547927" "0" "50" "12" "32994098" "32994098" "subst" "1.21974E-5" "02326" "PKP2_000448" "g.32994098G>T" "" "" "" "PKP2(NM_004572.3):c.1552C>A (p.L518I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841164G>T" "" "VUS" "" "0000547928" "0" "30" "12" "32994100" "32994100" "subst" "0.000524595" "02330" "PKP2_000449" "g.32994100T>C" "" "" "" "PKP2(NM_004572.3):c.1550A>G (p.N517S), PKP2(NM_004572.4):c.1550A>G (p.N517S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841166T>C" "" "likely benign" "" "0000547929" "0" "30" "12" "32994100" "32994100" "subst" "0.000524595" "01943" "PKP2_000449" "g.32994100T>C" "" "" "" "PKP2(NM_004572.3):c.1550A>G (p.N517S), PKP2(NM_004572.4):c.1550A>G (p.N517S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841166T>C" "" "likely benign" "" "0000547930" "0" "30" "12" "32994100" "32994100" "subst" "0.000524595" "02326" "PKP2_000449" "g.32994100T>C" "" "" "" "PKP2(NM_004572.3):c.1550A>G (p.N517S), PKP2(NM_004572.4):c.1550A>G (p.N517S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841166T>C" "" "likely benign" "" "0000547931" "0" "50" "12" "32996111" "32996111" "subst" "1.69163E-5" "02327" "PKP2_000051" "g.32996111C>T" "" "" "" "PKP2(NM_004572.3):c.1510+5G>A, PKP2(NM_004572.4):c.1510+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843177C>T" "" "VUS" "" "0000547932" "0" "50" "12" "32996118" "32996118" "subst" "0" "01943" "PKP2_000450" "g.32996118T>C" "" "" "" "PKP2(NM_004572.3):c.1508A>G (p.H503R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843184T>C" "" "VUS" "" "0000547933" "0" "30" "12" "32996156" "32996156" "subst" "0" "02327" "PKP2_000451" "g.32996156C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843222C>T" "" "likely benign" "" "0000547934" "0" "30" "12" "32996158" "32996158" "subst" "0.000428945" "02330" "PKP2_000149" "g.32996158G>A" "" "" "" "PKP2(NM_004572.3):c.1468C>T (p.R490W), PKP2(NM_004572.4):c.1468C>T (p.R490W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843224G>A" "" "likely benign" "" "0000547935" "0" "30" "12" "32996158" "32996158" "subst" "0.000428945" "01943" "PKP2_000149" "g.32996158G>A" "" "" "" "PKP2(NM_004572.3):c.1468C>T (p.R490W), PKP2(NM_004572.4):c.1468C>T (p.R490W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843224G>A" "" "likely benign" "" "0000547936" "0" "50" "12" "32996158" "32996158" "subst" "0.000428945" "02326" "PKP2_000149" "g.32996158G>A" "" "" "" "PKP2(NM_004572.3):c.1468C>T (p.R490W), PKP2(NM_004572.4):c.1468C>T (p.R490W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843224G>A" "" "VUS" "" "0000547937" "0" "10" "12" "32996195" "32996195" "subst" "0" "02330" "PKP2_000452" "g.32996195G>A" "" "" "" "PKP2(NM_004572.4):c.1431C>T (p.H477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843261G>A" "" "benign" "" "0000547938" "0" "30" "12" "32996205" "32996205" "subst" "0.000175582" "02327" "PKP2_000232" "g.32996205G>A" "" "" "" "PKP2(NM_004572.3):c.1421C>T (p.A474V), PKP2(NM_004572.4):c.1421C>T (p.A474V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843271G>A" "" "likely benign" "" "0000547939" "0" "30" "12" "32996207" "32996207" "subst" "0.000204622" "02327" "PKP2_000453" "g.32996207G>A" "" "" "" "PKP2(NM_004572.4):c.1419C>T (p.G473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843273G>A" "" "likely benign" "" "0000547940" "0" "30" "12" "32996253" "32996253" "subst" "0" "01943" "PKP2_000454" "g.32996253C>T" "" "" "" "PKP2(NM_004572.3):c.1379-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843319C>T" "" "likely benign" "" "0000547941" "0" "30" "12" "32996253" "32996253" "subst" "0" "02326" "PKP2_000454" "g.32996253C>T" "" "" "" "PKP2(NM_004572.3):c.1379-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843319C>T" "" "likely benign" "" "0000547942" "0" "30" "12" "32996269" "32996269" "subst" "0.000282111" "02327" "PKP2_000231" "g.32996269C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843335C>T" "" "likely benign" "" "0000547943" "0" "10" "12" "32996318" "32996318" "subst" "0" "02327" "PKP2_000455" "g.32996318C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843384C>T" "" "benign" "" "0000547944" "0" "10" "12" "33003706" "33003706" "subst" "0.00111932" "02330" "PKP2_000227" "g.33003706T>C" "" "" "" "PKP2(NM_001005242.3):c.1372A>G (p.(Ile458Val)), PKP2(NM_004572.3):c.1372A>G (p.I458V), PKP2(NM_004572.4):c.1372A>G (p.I458V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850772T>C" "" "benign" "" "0000547945" "0" "10" "12" "33003706" "33003706" "subst" "0.00111932" "01943" "PKP2_000227" "g.33003706T>C" "" "" "" "PKP2(NM_001005242.3):c.1372A>G (p.(Ile458Val)), PKP2(NM_004572.3):c.1372A>G (p.I458V), PKP2(NM_004572.4):c.1372A>G (p.I458V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850772T>C" "" "benign" "" "0000547946" "0" "30" "12" "33003706" "33003706" "subst" "0.00111932" "02325" "PKP2_000227" "g.33003706T>C" "" "" "" "PKP2(NM_001005242.3):c.1372A>G (p.(Ile458Val)), PKP2(NM_004572.3):c.1372A>G (p.I458V), PKP2(NM_004572.4):c.1372A>G (p.I458V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850772T>C" "" "likely benign" "" "0000547947" "0" "90" "12" "33003709" "33003712" "del" "0" "02327" "PKP2_000048" "g.33003709_33003712del" "" "" "" "PKP2(NM_004572.4):c.1369_1372delCAAA (p.Q457*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850775_32850778del" "" "pathogenic" "" "0000547948" "0" "30" "12" "33003770" "33003770" "subst" "4.0653E-6" "02327" "PKP2_000456" "g.33003770T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850836T>C" "" "likely benign" "" "0000547949" "0" "90" "12" "33003867" "33003867" "dup" "0" "02330" "PKP2_000042" "g.33003867dup" "" "" "" "PKP2(NM_001005242.3):c.1211dup (p.(Val406SerfsTer4)), PKP2(NM_004572.3):c.1211dupT (p.V406Sfs*4), PKP2(NM_004572.4):c.1210delCinsCT (p.V406Sfs*4), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850933dup" "" "pathogenic" "" "0000547950" "0" "90" "12" "33003867" "33003867" "dup" "0" "01943" "PKP2_000042" "g.33003867dup" "" "" "" "PKP2(NM_001005242.3):c.1211dup (p.(Val406SerfsTer4)), PKP2(NM_004572.3):c.1211dupT (p.V406Sfs*4), PKP2(NM_004572.4):c.1210delCinsCT (p.V406Sfs*4), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850933dup" "" "pathogenic" "" "0000547951" "0" "30" "12" "33003917" "33003917" "subst" "0.000396109" "02327" "PKP2_000297" "g.33003917A>G" "" "" "" "PKP2(NM_001005242.3):c.1171-10T>C, PKP2(NM_004572.3):c.1171-10T>C, PKP2(NM_004572.4):c.1171-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850983A>G" "" "likely benign" "" "0000547952" "0" "10" "12" "33003918" "33003918" "subst" "0.00289128" "02327" "PKP2_000040" "g.33003918A>G" "" "" "" "PKP2(NM_004572.3):c.1171-11T>C, PKP2(NM_004572.4):c.1171-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850984A>G" "" "benign" "" "0000547953" "0" "30" "12" "33021917" "33021917" "subst" "0.000597294" "02330" "PKP2_000035" "g.33021917C>G" "" "" "" "PKP2(NM_004572.3):c.1114G>C (p.A372P), PKP2(NM_004572.4):c.1114G>C (p.A372P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32868983C>G" "" "likely benign" "" "0000547954" "0" "10" "12" "33021934" "33021934" "subst" "0.180473" "02327" "PKP2_000034" "g.33021934A>G" "" "" "" "PKP2(NM_004572.3):c.1097T>C (p.L366P), PKP2(NM_004572.4):c.1097T>C (p.L366P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32869000A>G" "" "benign" "" "0000547956" "0" "50" "12" "33021958" "33021958" "subst" "0" "02330" "PKP2_000457" "g.33021958C>T" "" "" "" "PKP2(NM_004572.3):c.1073G>A (p.S358N), PKP2(NM_004572.4):c.1073G>A (p.S358N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32869024C>T" "" "VUS" "" "0000547957" "0" "30" "12" "33021958" "33021958" "subst" "0" "01943" "PKP2_000457" "g.33021958C>T" "" "" "" "PKP2(NM_004572.3):c.1073G>A (p.S358N), PKP2(NM_004572.4):c.1073G>A (p.S358N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32869024C>T" "" "likely benign" "" "0000547958" "0" "50" "12" "33021983" "33021983" "subst" "8.1285E-6" "02325" "PKP2_000458" "g.33021983C>T" "" "" "" "PKP2(NM_004572.4):c.1048G>A (p.E350K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32869049C>T" "" "VUS" "" "0000547959" "0" "30" "12" "33022007" "33022007" "del" "4.06726E-6" "02330" "PKP2_000459" "g.33022007del" "" "" "" "PKP2(NM_004572.4):c.1035-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32869073del" "" "likely benign" "" "0000547960" "0" "30" "12" "33022007" "33022007" "del" "4.06726E-6" "02327" "PKP2_000459" "g.33022007del" "" "" "" "PKP2(NM_004572.4):c.1035-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32869073del" "" "likely benign" "" "0000547962" "0" "50" "12" "33030781" "33030781" "subst" "0" "02327" "PKP2_000461" "g.33030781C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877847C>A" "" "VUS" "" "0000547963" "0" "10" "12" "33030802" "33030802" "subst" "0.0022214" "02326" "PKP2_000033" "g.33030802T>C" "" "" "" "PKP2(NM_001005242.3):c.1012A>G (p.(Thr338Ala)), PKP2(NM_004572.3):c.1012A>G (p.T338A), PKP2(NM_004572.4):c.1012A>G (p.T338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877868T>C" "" "benign" "" "0000547964" "0" "50" "12" "33030838" "33030838" "subst" "2.44948E-5" "02330" "PKP2_000211" "g.33030838C>T" "" "" "" "PKP2(NM_004572.4):c.976G>A (p.A326T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877904C>T" "" "VUS" "" "0000547965" "0" "50" "12" "33030850" "33030850" "subst" "6.51991E-5" "02330" "PKP2_000462" "g.33030850C>A" "" "" "" "PKP2(NM_004572.3):c.964G>T (p.G322C), PKP2(NM_004572.4):c.964G>T (p.G322C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877916C>A" "" "VUS" "" "0000547966" "0" "30" "12" "33030850" "33030850" "subst" "6.51991E-5" "02326" "PKP2_000462" "g.33030850C>A" "" "" "" "PKP2(NM_004572.3):c.964G>T (p.G322C), PKP2(NM_004572.4):c.964G>T (p.G322C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877916C>A" "" "likely benign" "" "0000547967" "0" "30" "12" "33030910" "33030910" "subst" "0" "02327" "PKP2_000463" "g.33030910T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877976T>G" "" "likely benign" "" "0000547968" "0" "50" "12" "33030919" "33030919" "subst" "6.91484E-5" "02327" "PKP2_000207" "g.33030919G>A" "" "" "" "PKP2(NM_004572.3):c.895C>T (p.R299C), PKP2(NM_004572.4):c.895C>T (p.R299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877985G>A" "" "VUS" "" "0000547969" "0" "50" "12" "33030980" "33030980" "subst" "0" "02327" "PKP2_000314" "g.33030980C>A" "" "" "" "PKP2(NM_004572.3):c.834G>T (p.Q278H), PKP2(NM_004572.4):c.834G>T (p.Q278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878046C>A" "" "VUS" "" "0000547970" "0" "30" "12" "33030995" "33030995" "subst" "1.22042E-5" "02327" "PKP2_000464" "g.33030995C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878061C>A" "" "likely benign" "" "0000547971" "0" "10" "12" "33031064" "33031064" "subst" "4.06497E-6" "02330" "PKP2_000465" "g.33031064G>A" "" "" "" "PKP2(NM_004572.3):c.750C>T (p.R250=), PKP2(NM_004572.4):c.750C>T (p.R250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878130G>A" "" "benign" "" "0000547972" "0" "30" "12" "33031064" "33031064" "subst" "4.06497E-6" "02325" "PKP2_000465" "g.33031064G>A" "" "" "" "PKP2(NM_004572.3):c.750C>T (p.R250=), PKP2(NM_004572.4):c.750C>T (p.R250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878130G>A" "" "likely benign" "" "0000547973" "0" "50" "12" "33031064" "33031064" "subst" "4.06497E-6" "02326" "PKP2_000465" "g.33031064G>A" "" "" "" "PKP2(NM_004572.3):c.750C>T (p.R250=), PKP2(NM_004572.4):c.750C>T (p.R250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878130G>A" "" "VUS" "" "0000547974" "0" "10" "12" "33031094" "33031094" "subst" "4.06329E-6" "02330" "PKP2_000466" "g.33031094C>T" "" "" "" "PKP2(NM_004572.4):c.720G>A (p.L240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878160C>T" "" "benign" "" "0000547975" "0" "30" "12" "33031100" "33031100" "subst" "5.28198E-5" "01943" "PKP2_000467" "g.33031100C>T" "" "" "" "PKP2(NM_004572.3):c.714G>A (p.P238=), PKP2(NM_004572.4):c.714G>A (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878166C>T" "" "likely benign" "" "0000547976" "0" "30" "12" "33031100" "33031100" "subst" "5.28198E-5" "02326" "PKP2_000467" "g.33031100C>T" "" "" "" "PKP2(NM_004572.3):c.714G>A (p.P238=), PKP2(NM_004572.4):c.714G>A (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878166C>T" "" "likely benign" "" "0000547977" "0" "50" "12" "33031101" "33031101" "subst" "4.46955E-5" "02326" "PKP2_000196" "g.33031101G>A" "" "" "" "PKP2(NM_004572.3):c.713C>T (p.P238L), PKP2(NM_004572.4):c.713C>T (p.P238L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878167G>A" "" "VUS" "" "0000547978" "0" "30" "12" "33031108" "33031108" "subst" "0.00046724" "01943" "PKP2_000022" "g.33031108C>A" "" "" "" "PKP2(NM_004572.3):c.706G>T (p.A236S), PKP2(NM_004572.4):c.706G>T (p.A236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878174C>A" "" "likely benign" "" "0000547979" "0" "30" "12" "33031108" "33031108" "subst" "0.00046724" "02327" "PKP2_000022" "g.33031108C>A" "" "" "" "PKP2(NM_004572.3):c.706G>T (p.A236S), PKP2(NM_004572.4):c.706G>T (p.A236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878174C>A" "" "likely benign" "" "0000547980" "0" "30" "12" "33031108" "33031108" "subst" "0.00046724" "02326" "PKP2_000022" "g.33031108C>A" "" "" "" "PKP2(NM_004572.3):c.706G>T (p.A236S), PKP2(NM_004572.4):c.706G>T (p.A236S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878174C>A" "" "likely benign" "" "0000547982" "0" "50" "12" "33031350" "33031350" "subst" "5.68556E-5" "02326" "PKP2_000330" "g.33031350C>G" "" "" "" "PKP2(NM_004572.3):c.464G>C (p.S155T), PKP2(NM_004572.4):c.464G>C (p.S155T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878416C>G" "" "VUS" "" "0000547983" "0" "50" "12" "33031360" "33031360" "subst" "8.12189E-6" "02327" "PKP2_000468" "g.33031360G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878426G>A" "" "VUS" "" "0000547985" "0" "90" "12" "33031417" "33031417" "subst" "0" "01943" "PKP2_000017" "g.33031417G>A" "" "" "" "PKP2(NM_001005242.2):c.397C>T (p.(Gln133Ter)), PKP2(NM_004572.3):c.397C>T (p.Q133*), PKP2(NM_004572.4):c.397C>T (p.Q133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878483G>A" "" "pathogenic" "" "0000547986" "0" "90" "12" "33031417" "33031417" "subst" "0" "02327" "PKP2_000017" "g.33031417G>A" "" "" "" "PKP2(NM_001005242.2):c.397C>T (p.(Gln133Ter)), PKP2(NM_004572.3):c.397C>T (p.Q133*), PKP2(NM_004572.4):c.397C>T (p.Q133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878483G>A" "" "pathogenic" "" "0000547987" "0" "30" "12" "33031427" "33031427" "subst" "4.08847E-5" "02327" "PKP2_000469" "g.33031427C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878493C>T" "" "likely benign" "" "0000547988" "0" "10" "12" "33031691" "33031691" "subst" "0" "02327" "PKP2_000470" "g.33031691C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878757C>T" "" "benign" "" "0000547989" "0" "30" "12" "33031883" "33031883" "subst" "4.06171E-6" "02327" "PKP2_000471" "g.33031883G>C" "" "" "" "PKP2(NM_004572.3):c.307C>G (p.P103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878949G>C" "" "likely benign" "" "0000547990" "0" "30" "12" "33031884" "33031884" "subst" "0.00035336" "02326" "PKP2_000472" "g.33031884G>T" "" "" "" "PKP2(NM_004572.3):c.306C>A (p.S102=), PKP2(NM_004572.4):c.306C>A (p.S102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878950G>T" "" "likely benign" "" "0000547991" "0" "50" "12" "33031888" "33031888" "subst" "0.000154346" "02330" "PKP2_000178" "g.33031888C>T" "" "" "" "PKP2(NM_004572.3):c.302G>A (p.R101H), PKP2(NM_004572.4):c.302G>A (p.R101H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878954C>T" "" "VUS" "" "0000547993" "0" "10" "12" "33031984" "33031984" "subst" "8.14226E-6" "02330" "PKP2_000473" "g.33031984T>C" "" "" "" "PKP2(NM_004572.4):c.224-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32879050T>C" "" "benign" "" "0000547994" "0" "30" "12" "33049417" "33049417" "subst" "4.77236E-5" "02327" "PKP2_000474" "g.33049417G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896483G>T" "" "likely benign" "" "0000547995" "0" "30" "12" "33049457" "33049457" "subst" "0.0212146" "01804" "PKP2_000011" "g.33049457C>A" "" "" "" "PKP2(NM_001005242.3):c.209G>T (p.(Ser70Ile)), PKP2(NM_004572.3):c.209G>T (p.S70I), PKP2(NM_004572.4):c.209G>T (p.S70I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896523C>A" "" "likely benign" "" "0000547996" "0" "10" "12" "33049492" "33049492" "subst" "0.00577997" "02330" "PKP2_000004" "g.33049492C>A" "" "" "" "PKP2(NM_001005242.3):c.174G>T (p.(Glu58Asp)), PKP2(NM_004572.3):c.174G>T (p.E58D), PKP2(NM_004572.4):c.174G>T (p.E58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896558C>A" "" "benign" "" "0000547997" "0" "10" "12" "33049492" "33049492" "subst" "0.00577997" "01943" "PKP2_000004" "g.33049492C>A" "" "" "" "PKP2(NM_001005242.3):c.174G>T (p.(Glu58Asp)), PKP2(NM_004572.3):c.174G>T (p.E58D), PKP2(NM_004572.4):c.174G>T (p.E58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896558C>A" "" "benign" "" "0000547998" "0" "30" "12" "33049492" "33049492" "subst" "0.00577997" "02325" "PKP2_000004" "g.33049492C>A" "" "" "" "PKP2(NM_001005242.3):c.174G>T (p.(Glu58Asp)), PKP2(NM_004572.3):c.174G>T (p.E58D), PKP2(NM_004572.4):c.174G>T (p.E58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896558C>A" "" "likely benign" "" "0000547999" "0" "30" "12" "33049492" "33049492" "subst" "0.00577997" "02326" "PKP2_000004" "g.33049492C>A" "" "" "" "PKP2(NM_001005242.3):c.174G>T (p.(Glu58Asp)), PKP2(NM_004572.3):c.174G>T (p.E58D), PKP2(NM_004572.4):c.174G>T (p.E58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896558C>A" "" "likely benign" "" "0000548000" "0" "50" "12" "33049508" "33049508" "subst" "0" "02327" "PKP2_000475" "g.33049508C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896574C>A" "" "VUS" "" "0000548001" "0" "30" "12" "33049528" "33049528" "subst" "0" "02327" "PKP2_000476" "g.33049528G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896594G>A" "" "likely benign" "" "0000548002" "0" "10" "12" "33049590" "33049590" "subst" "0.00839651" "02327" "PKP2_000001" "g.33049590C>T" "" "" "" "PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896656C>T" "" "benign" "" "0000548003" "0" "30" "12" "33049647" "33049647" "subst" "0" "02327" "PKP2_000477" "g.33049647G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896713G>A" "" "likely benign" "" "0000548004" "0" "50" "12" "33049652" "33049652" "subst" "3.69522E-5" "02327" "PKP2_000377" "g.33049652C>T" "" "" "" "PKP2(NM_004572.4):c.14G>A (p.G5D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896718C>T" "" "VUS" "" "0000548005" "0" "30" "12" "33049654" "33049654" "subst" "0" "02330" "PKP2_000478" "g.33049654G>A" "" "" "" "PKP2(NM_004572.3):c.12C>T (p.P4=), PKP2(NM_004572.4):c.12C>T (p.P4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896720G>A" "" "likely benign" "" "0000548006" "0" "50" "12" "33049654" "33049654" "subst" "0" "02326" "PKP2_000478" "g.33049654G>A" "" "" "" "PKP2(NM_004572.3):c.12C>T (p.P4=), PKP2(NM_004572.4):c.12C>T (p.P4=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896720G>A" "" "VUS" "" "0000614100" "0" "50" "12" "32945384" "32945384" "subst" "0" "01943" "PKP2_000479" "g.32945384T>C" "" "" "" "PKP2(NM_004572.3):c.2620A>G (p.K874E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792450T>C" "" "VUS" "" "0000614101" "0" "90" "12" "32949039" "32949039" "subst" "0" "02330" "PKP2_000394" "g.32949039T>G" "" "" "" "PKP2(NM_004572.3):c.2489+4A>C, PKP2(NM_004572.4):c.2489+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796105T>G" "" "pathogenic" "" "0000614102" "0" "30" "12" "32949101" "32949101" "subst" "0.000901486" "02327" "PKP2_000271" "g.32949101G>T" "" "" "" "PKP2(NM_001005242.2):c.2299C>A (p.(Arg767Ser)), PKP2(NM_004572.3):c.2431C>A (p.R811S), PKP2(NM_004572.4):c.2431C>A (p.R811S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796167G>T" "" "likely benign" "" "0000614103" "0" "50" "12" "32949103" "32949103" "subst" "0" "02327" "PKP2_000480" "g.32949103G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796169G>C" "" "VUS" "" "0000614104" "0" "70" "12" "32949233" "32949233" "subst" "0" "02326" "PKP2_000481" "g.32949233C>T" "" "" "" "PKP2(NM_004572.3):c.2300-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796299C>T" "" "likely pathogenic" "" "0000614105" "0" "30" "12" "32975500" "32975500" "subst" "7.7222E-5" "02327" "PKP2_000410" "g.32975500C>A" "" "" "" "PKP2(NM_004572.3):c.1872G>T (p.E624D), PKP2(NM_004572.4):c.1872G>T (p.E624D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32822566C>A" "" "likely benign" "" "0000614107" "0" "10" "12" "32977026" "32977026" "subst" "0.00243541" "02327" "PKP2_000068" "g.32977026C>T" "" "" "" "PKP2(NM_001005242.3):c.1627G>A (p.(Val543Ile)), PKP2(NM_004572.3):c.1759G>A (p.V587I), PKP2(NM_004572.4):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32824092C>T" "" "benign" "" "0000614109" "0" "10" "12" "32994073" "32994073" "subst" "0.00244616" "02327" "PKP2_000054" "g.32994073G>A" "" "" "" "PKP2(NM_004572.3):c.1577C>T (p.T526M), PKP2(NM_004572.4):c.1577C>T (p.T526M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32841139G>A" "" "benign" "" "0000614110" "0" "30" "12" "32996158" "32996158" "subst" "0.000428945" "02327" "PKP2_000149" "g.32996158G>A" "" "" "" "PKP2(NM_004572.3):c.1468C>T (p.R490W), PKP2(NM_004572.4):c.1468C>T (p.R490W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843224G>A" "" "likely benign" "" "0000614111" "0" "30" "12" "32996161" "32996161" "subst" "3.93326E-5" "02327" "PKP2_000154" "g.32996161C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843227C>T" "" "likely benign" "" "0000614112" "0" "30" "12" "32996166" "32996166" "subst" "0" "02327" "PKP2_000484" "g.32996166T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843232T>C" "" "likely benign" "" "0000614113" "0" "90" "12" "33003709" "33003712" "del" "0" "02325" "PKP2_000048" "g.33003709_33003712del" "" "" "" "PKP2(NM_004572.4):c.1369_1372delCAAA (p.Q457*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850775_32850778del" "" "pathogenic" "" "0000614114" "0" "90" "12" "33003867" "33003867" "dup" "0" "02327" "PKP2_000042" "g.33003867dup" "" "" "" "PKP2(NM_001005242.3):c.1211dup (p.(Val406SerfsTer4)), PKP2(NM_004572.3):c.1211dupT (p.V406Sfs*4), PKP2(NM_004572.4):c.1210delCinsCT (p.V406Sfs*4), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850933dup" "" "pathogenic" "" "0000614115" "0" "50" "12" "33030802" "33030802" "subst" "0.0022214" "02327" "PKP2_000033" "g.33030802T>C" "" "" "" "PKP2(NM_001005242.3):c.1012A>G (p.(Thr338Ala)), PKP2(NM_004572.3):c.1012A>G (p.T338A), PKP2(NM_004572.4):c.1012A>G (p.T338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877868T>C" "" "VUS" "" "0000614116" "0" "50" "12" "33030864" "33030864" "subst" "1.22089E-5" "01804" "PKP2_000310" "g.33030864G>A" "" "" "" "PKP2(NM_001005242.2):c.950C>T (p.(Ala317Val)), PKP2(NM_004572.4):c.950C>T (p.A317V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877930G>A" "" "VUS" "" "0000614117" "0" "50" "12" "33030980" "33030980" "subst" "0" "02325" "PKP2_000314" "g.33030980C>A" "" "" "" "PKP2(NM_004572.3):c.834G>T (p.Q278H), PKP2(NM_004572.4):c.834G>T (p.Q278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878046C>A" "" "VUS" "" "0000614118" "0" "10" "12" "33030995" "33030995" "subst" "0.00788795" "02327" "PKP2_000024" "g.33030995C>T" "" "" "" "PKP2(NM_004572.3):c.819G>A (p.P273=), PKP2(NM_004572.4):c.819G>A (p.P273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878061C>T" "" "benign" "" "0000614119" "0" "30" "12" "33030996" "33030996" "subst" "1.62677E-5" "02327" "PKP2_000487" "g.33030996G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878062G>A" "" "likely benign" "" "0000614120" "0" "30" "12" "33031089" "33031089" "subst" "0.000113772" "02327" "PKP2_000197" "g.33031089G>A" "" "" "" "PKP2(NM_004572.4):c.725C>T (p.T242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878155G>A" "" "likely benign" "" "0000614121" "0" "30" "12" "33031309" "33031309" "subst" "0.00116228" "02327" "PKP2_000148" "g.33031309T>C" "" "" "" "PKP2(NM_004572.3):c.505A>G (p.S169G), PKP2(NM_004572.4):c.505A>G (p.S169G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878375T>C" "" "likely benign" "" "0000614122" "0" "10" "12" "33031395" "33031395" "subst" "0.00231927" "02327" "PKP2_000018" "g.33031395G>A" "" "" "" "PKP2(NM_004572.3):c.419C>T (p.S140F), PKP2(NM_004572.4):c.419C>T (p.S140F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878461G>A" "" "benign" "" "0000614123" "0" "50" "12" "33031396" "33031396" "subst" "4.0622E-6" "01943" "PKP2_000181" "g.33031396A>T" "" "" "" "PKP2(NM_004572.3):c.418T>A (p.S140T), PKP2(NM_004572.4):c.418T>A (p.S140T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878462A>T" "" "VUS" "" "0000614124" "0" "50" "12" "33031450" "33031450" "subst" "3.29731E-5" "02325" "PKP2_000368" "g.33031450G>A" "" "" "" "PKP2(NM_004572.3):c.364C>T (p.R122C), PKP2(NM_004572.4):c.364C>T (p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878516G>A" "" "VUS" "" "0000614125" "0" "30" "12" "33031906" "33031906" "subst" "0" "02327" "PKP2_000488" "g.33031906T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878972T>G" "" "likely benign" "" "0000614126" "0" "50" "12" "33031937" "33031937" "subst" "0" "02327" "PKP2_000489" "g.33031937C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32879003C>A" "" "VUS" "" "0000614127" "0" "10" "12" "33049457" "33049457" "subst" "0.0212146" "02327" "PKP2_000011" "g.33049457C>A" "" "" "" "PKP2(NM_001005242.3):c.209G>T (p.(Ser70Ile)), PKP2(NM_004572.3):c.209G>T (p.S70I), PKP2(NM_004572.4):c.209G>T (p.S70I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896523C>A" "" "benign" "" "0000614128" "0" "50" "12" "33049482" "33049482" "subst" "0.000137621" "02327" "PKP2_000006" "g.33049482G>T" "" "" "" "PKP2(NM_004572.3):c.184C>A (p.Q62K), PKP2(NM_004572.4):c.184C>A (p.Q62K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896548G>T" "" "VUS" "" "0000614129" "0" "10" "12" "33049492" "33049492" "subst" "0.00577997" "02327" "PKP2_000004" "g.33049492C>A" "" "" "" "PKP2(NM_001005242.3):c.174G>T (p.(Glu58Asp)), PKP2(NM_004572.3):c.174G>T (p.E58D), PKP2(NM_004572.4):c.174G>T (p.E58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896558C>A" "" "benign" "" "0000614130" "0" "30" "12" "33049498" "33049498" "subst" "0" "02327" "PKP2_000491" "g.33049498G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896564G>A" "" "likely benign" "" "0000614131" "0" "30" "12" "33049518" "33049518" "subst" "0" "02327" "PKP2_000492" "g.33049518T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896584T>C" "" "likely benign" "" "0000614132" "0" "30" "12" "33049570" "33049570" "subst" "0" "02327" "PKP2_000493" "g.33049570C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896636C>T" "" "likely benign" "" "0000622868" "0" "50" "12" "32945389" "32945389" "subst" "4.06121E-6" "02325" "PKP2_000118" "g.32945389G>A" "" "" "" "PKP2(NM_001005242.3):c.2483C>T (p.(Thr828Ile)), PKP2(NM_004572.3):c.2615C>T (p.T872I), PKP2(NM_004572.4):c.2615C>T (p.T872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32792455G>A" "" "VUS" "" "0000622869" "0" "10" "12" "32949140" "32949140" "subst" "0.00062133" "02330" "PKP2_000283" "g.32949140T>C" "" "" "" "PKP2(NM_004572.3):c.2392A>G (p.T798A), PKP2(NM_004572.4):c.2392A>G (p.T798A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32796206T>C" "" "benign" "" "0000622870" "0" "10" "12" "32974338" "32974338" "subst" "8.12394E-6" "02330" "PKP2_000482" "g.32974338T>C" "" "" "" "PKP2(NM_004572.4):c.2097A>G (p.Q699=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821404T>C" "" "benign" "" "0000622871" "0" "30" "12" "32996205" "32996205" "subst" "0.000175582" "02330" "PKP2_000232" "g.32996205G>A" "" "" "" "PKP2(NM_004572.3):c.1421C>T (p.A474V), PKP2(NM_004572.4):c.1421C>T (p.A474V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843271G>A" "" "likely benign" "" "0000622872" "0" "10" "12" "32996207" "32996207" "subst" "0.000204622" "02330" "PKP2_000453" "g.32996207G>A" "" "" "" "PKP2(NM_004572.4):c.1419C>T (p.G473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32843273G>A" "" "benign" "" "0000622873" "0" "30" "12" "33003827" "33003827" "subst" "4.06286E-6" "02325" "PKP2_000485" "g.33003827C>A" "" "" "" "PKP2(NM_004572.4):c.1251G>T (p.G417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32850893C>A" "" "likely benign" "" "0000622874" "0" "10" "12" "33030872" "33030872" "subst" "0" "02330" "PKP2_000486" "g.33030872C>A" "" "" "" "PKP2(NM_004572.4):c.942G>T (p.G314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877938C>A" "" "benign" "" "0000622875" "0" "90" "12" "33031417" "33031417" "subst" "0" "02325" "PKP2_000017" "g.33031417G>A" "" "" "" "PKP2(NM_001005242.2):c.397C>T (p.(Gln133Ter)), PKP2(NM_004572.3):c.397C>T (p.Q133*), PKP2(NM_004572.4):c.397C>T (p.Q133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878483G>A" "" "pathogenic" "" "0000622876" "0" "50" "12" "33049446" "33049446" "subst" "0" "02325" "PKP2_000490" "g.33049446T>C" "" "" "" "PKP2(NM_004572.4):c.220A>G (p.N74D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32896512T>C" "" "VUS" "" "0000648536" "1" "30" "12" "32955330" "32955330" "subst" "0.0275058" "03575" "PKP2_000096" "g.32955330G>A" "230/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "230 heterozygous; {DB:CLININrs74072938}" "Germline" "" "rs74072938" "0" "" "" "g.32802396G>A" "" "likely benign" "" "0000648537" "1" "50" "12" "32974352" "32974352" "subst" "0.000134056" "03575" "PKP2_000262" "g.32974352G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs199583774}" "Germline" "" "rs199583774" "0" "" "" "g.32821418G>A" "" "VUS" "" "0000648538" "1" "90" "12" "32974436" "32974436" "subst" "4.06296E-6" "03575" "PKP2_000494" "g.32974436C>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs397517015}" "Germline" "" "rs397517015" "0" "" "" "g.32821502C>A" "" "pathogenic" "" "0000648539" "1" "50" "12" "32994103" "32994103" "subst" "4.06729E-6" "03575" "PKP2_000495" "g.32994103T>G" "5/2790 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs749926313}" "Germline" "" "rs749926313" "0" "" "" "g.32841169T>G" "" "VUS" "" "0000648540" "1" "30" "12" "33049492" "33049492" "subst" "0.00577997" "03575" "PKP2_000004" "g.33049492C>A" "12/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs146708884}" "Germline" "" "rs146708884" "0" "" "" "g.32896558C>A" "" "likely benign" "" "0000648541" "1" "30" "12" "33049590" "33049590" "subst" "0.00839651" "03575" "PKP2_000001" "g.33049590C>T" "21/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous, no homozygous; {DB:CLININrs143004808}" "Germline" "" "rs143004808" "0" "" "" "g.32896656C>T" "" "likely benign" "" "0000657078" "0" "30" "12" "32974302" "32974302" "subst" "0.000377785" "02326" "PKP2_000402" "g.32974302G>A" "" "" "" "PKP2(NM_004572.3):c.2133C>T (p.A711=), PKP2(NM_004572.4):c.2133C>T (p.A711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32821368G>A" "" "likely benign" "" "0000657079" "0" "30" "12" "32975500" "32975500" "subst" "7.7222E-5" "02326" "PKP2_000410" "g.32975500C>A" "" "" "" "PKP2(NM_004572.3):c.1872G>T (p.E624D), PKP2(NM_004572.4):c.1872G>T (p.E624D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32822566C>A" "" "likely benign" "" "0000657080" "0" "30" "12" "33021917" "33021917" "subst" "0.000597294" "02325" "PKP2_000035" "g.33021917C>G" "" "" "" "PKP2(NM_004572.3):c.1114G>C (p.A372P), PKP2(NM_004572.4):c.1114G>C (p.A372P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32868983C>G" "" "likely benign" "" "0000657081" "0" "30" "12" "33021917" "33021917" "subst" "0.000597294" "02326" "PKP2_000035" "g.33021917C>G" "" "" "" "PKP2(NM_004572.3):c.1114G>C (p.A372P), PKP2(NM_004572.4):c.1114G>C (p.A372P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32868983C>G" "" "likely benign" "" "0000657082" "0" "10" "12" "33030842" "33030842" "subst" "0.000420254" "02330" "PKP2_000029" "g.33030842C>T" "" "" "" "PKP2(NM_004572.3):c.972G>A (p.A324=), PKP2(NM_004572.4):c.972G>A (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32877908C>T" "" "benign" "" "0000657083" "0" "50" "12" "33031159" "33031159" "subst" "0" "02325" "PKP2_000324" "g.33031159T>C" "" "" "" "PKP2(NM_004572.3):c.655A>G (p.R219G), PKP2(NM_004572.4):c.655A>G (p.R219G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32878225T>C" "" "VUS" "" "0000669167" "3" "30" "12" "32955330" "32955330" "subst" "0.0275058" "03575" "PKP2_000096" "g.32955330G>A" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 homozygous; {DB:CLININrs74072938}" "Germline" "" "rs74072938" "0" "" "" "g.32802396G>A" "" "likely benign" "" "0000670206" "0" "70" "12" "32993987" "32993987" "del" "0" "01164" "PKP2_000497" "g.32993987del" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.32841053del" "" "likely pathogenic" "ACMG" "0000670210" "0" "70" "12" "32955491" "32955491" "subst" "3.65824E-5" "01164" "PKP2_000088" "g.32955491C>G" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.32802557C>G" "" "likely pathogenic" "ACMG" "0000670211" "0" "70" "12" "33003699" "33003699" "subst" "4.07309E-6" "01164" "PKP2_000230" "g.33003699C>G" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.32850765C>G" "" "likely pathogenic" "ACMG" "0000670212" "0" "50" "12" "33049443" "33049443" "subst" "3.00813E-5" "01164" "PKP2_000496" "g.33049443C>T" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual" "Germline" "?" "" "" "" "" "g.32896509C>T" "" "VUS" "ACMG" "0000670213" "0" "70" "12" "33021893" "33021893" "subst" "0" "01164" "PKP2_000127" "g.33021893C>A" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.32868959C>A" "" "likely pathogenic" "ACMG" "0000679498" "0" "30" "12" "32949252" "32949252" "dup" "0" "02327" "PKP2_000437" "g.32949252dup" "" "" "" "PKP2(NM_004572.3):c.2300-11dupT, PKP2(NM_004572.4):c.2300-11dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679499" "0" "90" "12" "32955357" "32955357" "del" "0" "02327" "PKP2_000498" "g.32955357del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679500" "0" "50" "12" "32996172" "32996172" "subst" "4.27332E-6" "02326" "PKP2_000352" "g.32996172C>T" "" "" "" "PKP2(NM_004572.3):c.1454G>A (p.G485E), PKP2(NM_004572.4):c.1454G>A (p.G485E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679501" "0" "30" "12" "32996205" "32996207" "delins" "0" "02327" "PKP2_000499" "g.32996205_32996207delinsACA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679502" "0" "30" "12" "32996211" "32996211" "subst" "4.58062E-5" "02327" "PKP2_000356" "g.32996211G>A" "" "" "" "PKP2(NM_004572.3):c.1415C>T (p.P472L), PKP2(NM_004572.4):c.1415C>T (p.P472L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679503" "0" "90" "12" "33003867" "33003867" "dup" "0" "02326" "PKP2_000042" "g.33003867dup" "" "" "" "PKP2(NM_001005242.3):c.1211dup (p.(Val406SerfsTer4)), PKP2(NM_004572.3):c.1211dupT (p.V406Sfs*4), PKP2(NM_004572.4):c.1210delCinsCT (p.V406Sfs*4), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000679504" "0" "70" "12" "33030875" "33030884" "del" "0" "02327" "PKP2_000500" "g.33030875_33030884del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679505" "0" "50" "12" "33030886" "33030886" "subst" "8.54165E-5" "02330" "PKP2_000208" "g.33030886C>T" "" "" "" "PKP2(NM_004572.4):c.928G>A (p.V310M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679506" "0" "30" "12" "33030896" "33030896" "subst" "4.0664E-5" "02327" "PKP2_000501" "g.33030896G>A" "" "" "" "PKP2(NM_004572.3):c.918C>T (p.P306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679507" "0" "30" "12" "33031100" "33031100" "subst" "5.28198E-5" "02327" "PKP2_000467" "g.33031100C>T" "" "" "" "PKP2(NM_004572.3):c.714G>A (p.P238=), PKP2(NM_004572.4):c.714G>A (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691326" "0" "30" "12" "32996172" "32996172" "subst" "4.27332E-6" "01943" "PKP2_000352" "g.32996172C>T" "" "" "" "PKP2(NM_004572.3):c.1454G>A (p.G485E), PKP2(NM_004572.4):c.1454G>A (p.G485E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691327" "0" "30" "12" "32996206" "32996206" "subst" "0.000188015" "02330" "PKP2_000234" "g.32996206C>T" "" "" "" "PKP2(NM_004572.4):c.1420G>A (p.A474T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691328" "0" "30" "12" "33030818" "33030818" "subst" "8.58755E-5" "02326" "PKP2_000502" "g.33030818C>T" "" "" "" "PKP2(NM_004572.3):c.996G>A (p.L332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000700680" "0" "50" "12" "32949085" "32949085" "subst" "0" "00006" "PKP2_000505" "g.32949085G>C" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32796151G>C" "" "VUS" "" "0000700681" "0" "50" "12" "32945381" "32945381" "subst" "0" "00006" "PKP2_000503" "g.32945381C>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32792447C>A" "" "VUS" "" "0000700820" "0" "50" "12" "33049598" "33049598" "subst" "0" "00006" "PKP2_000524" "g.33049598C>T" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32896664C>T" "" "VUS" "" "0000700821" "0" "90" "12" "33049518" "33049521" "del" "0" "00006" "PKP2_000002" "g.33049518_33049521del" "2/361 cases" "{PMID:Walsh 2017:27532257}" "" "148_151delACAG" "" "Germline" "" "" "0" "" "" "g.32896584_32896587del" "" "pathogenic" "" "0000700822" "0" "90" "12" "33049451" "33049451" "del" "0" "00006" "PKP2_000523" "g.33049451del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32896517del" "" "pathogenic" "" "0000700823" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "00006" "PKP2_000013" "g.33031955G>A" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0000700824" "0" "90" "12" "33031935" "33031938" "del" "0" "00006" "PKP2_000175" "g.33031935_33031938del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "253_256delGAGT" "" "Germline" "" "" "0" "" "" "g.32879001_32879004del" "" "pathogenic" "" "0000700825" "0" "90" "12" "33031915" "33031915" "subst" "8.12321E-6" "00006" "PKP2_000177" "g.33031915A>T" "3/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878981A>T" "" "pathogenic" "" "0000700826" "0" "90" "12" "33031877" "33031877" "del" "0" "00006" "PKP2_000522" "g.33031877del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878943del" "" "pathogenic" "" "0000700827" "0" "90" "12" "33031479" "33031479" "subst" "0" "00006" "PKP2_000521" "g.33031479T>A" "2/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878545T>A" "" "pathogenic" "" "0000700828" "0" "90" "12" "33031458" "33031458" "dup" "0" "00006" "PKP2_000520" "g.33031458dup" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878524dup" "" "pathogenic" "" "0000700829" "0" "90" "12" "33031456" "33031456" "subst" "0" "00006" "PKP2_000016" "g.33031456C>A" "2/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878522C>A" "" "pathogenic" "" "0000700830" "0" "90" "12" "33031151" "33031151" "subst" "4.06095E-6" "00006" "PKP2_000021" "g.33031151G>T" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878217G>T" "" "pathogenic" "" "0000700831" "0" "90" "12" "33031039" "33031039" "subst" "0" "00006" "PKP2_000201" "g.33031039C>A" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878105C>A" "" "pathogenic" "" "0000700832" "0" "50" "12" "33030873" "33030873" "subst" "6.50893E-5" "00006" "PKP2_000519" "g.33030873C>T" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32877939C>T" "" "VUS" "" "0000700833" "0" "90" "12" "33030839" "33030846" "delins" "0" "00006" "PKP2_000518" "g.33030839_33030846delinsAAAGGC" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32877905_32877912delinsAAAGGC" "" "pathogenic" "" "0000700834" "0" "90" "12" "33021968" "33021968" "subst" "1.21961E-5" "00006" "PKP2_000215" "g.33021968G>A" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32869034G>A" "" "pathogenic" "" "0000700835" "0" "90" "12" "33021930" "33021930" "dup" "0" "00006" "PKP2_000517" "g.33021930dup" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32868996dup" "" "pathogenic" "" "0000700836" "0" "50" "12" "33021917" "33021917" "subst" "8.12645E-6" "00006" "PKP2_000516" "g.33021917C>T" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32868983C>T" "" "VUS" "" "0000700837" "0" "90" "12" "33021902" "33021909" "del" "0" "00006" "PKP2_000515" "g.33021902_33021909del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32868968_32868975del" "" "pathogenic" "" "0000700838" "0" "90" "12" "33021899" "33021899" "subst" "4.06299E-6" "00006" "PKP2_000037" "g.33021899G>A" "3/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32868965G>A" "" "pathogenic" "" "0000700839" "0" "90" "12" "33021860" "33021860" "subst" "0" "00006" "PKP2_000039" "g.33021860C>G" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32868926C>G" "" "pathogenic" "" "0000700840" "0" "70" "12" "33003703" "33003910" "del" "0" "00006" "PKP2_000512" "g.33003703_33003910del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "1171_1378del" "" "Germline" "" "" "0" "" "" "g.32850769_32850976del" "" "likely pathogenic" "" "0000700841" "0" "90" "12" "33003901" "33003901" "subst" "0" "00006" "PKP2_000222" "g.33003901G>A" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32850967G>A" "" "pathogenic" "" "0000700842" "0" "90" "12" "33003867" "33003867" "dup" "0" "00006" "PKP2_000042" "g.33003867dup" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32850933dup" "" "pathogenic" "" "0000700843" "0" "90" "12" "33003841" "33003841" "subst" "1.21889E-5" "00006" "PKP2_000043" "g.33003841G>A" "2/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32850907G>A" "" "pathogenic" "" "0000700844" "0" "70" "12" "33003799" "33003823" "dup" "0" "00006" "PKP2_000514" "g.33003799_33003823dup" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32850865_32850889dup" "" "likely pathogenic" "" "0000700845" "0" "90" "12" "33003705" "33003708" "del" "0" "00006" "PKP2_000513" "g.33003705_33003708del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32850771_32850774del" "" "pathogenic" "" "0000700846" "0" "90" "12" "32977097" "32977097" "subst" "1.2249E-5" "00006" "PKP2_000152" "g.32977097C>G" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32824163C>G" "" "pathogenic" "" "0000700847" "0" "90" "12" "32977036" "32977043" "dup" "0" "00006" "PKP2_000067" "g.32977036_32977043dup" "2/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32824102_32824109dup" "" "pathogenic" "" "0000700848" "0" "90" "12" "32977031" "32977031" "subst" "0" "00006" "PKP2_000511" "g.32977031G>C" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32824097G>C" "" "pathogenic" "" "0000700849" "0" "90" "12" "32975480" "32975480" "delins" "0" "00006" "PKP2_000510" "g.32975480delinsGGA" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32822546delinsGGA" "" "pathogenic" "" "0000700850" "0" "90" "12" "32975474" "32975474" "del" "0" "00006" "PKP2_000509" "g.32975474del" "2/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32822540del" "" "pathogenic" "" "0000700851" "0" "90" "12" "32975437" "32975455" "dup" "0" "00006" "PKP2_000508" "g.32975437_32975455dup" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32822503_32822521dup" "" "pathogenic" "" "0000700852" "0" "90" "12" "32975407" "32975407" "del" "0" "00006" "PKP2_000507" "g.32975407del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32822473del" "" "pathogenic" "" "0000700853" "0" "90" "12" "32974436" "32974436" "subst" "4.06296E-6" "00006" "PKP2_000494" "g.32974436C>A" "2/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32821502C>A" "" "pathogenic" "" "0000700854" "0" "90" "12" "32974377" "32974377" "subst" "0" "00006" "PKP2_000506" "g.32974377A>T" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32821443A>T" "" "pathogenic" "" "0000700855" "0" "50" "12" "32974373" "32974373" "subst" "2.03128E-5" "00006" "PKP2_000081" "g.32974373A>G" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32821439A>G" "" "VUS" "" "0000700856" "0" "90" "12" "32974316" "32974316" "subst" "0" "00006" "PKP2_000085" "g.32974316G>A" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32821382G>A" "" "pathogenic" "" "0000700857" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "00006" "PKP2_000088" "g.32955491C>G" "24/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32802557C>G" "" "pathogenic" "" "0000700858" "0" "90" "12" "32955434" "32955439" "delins" "0" "00006" "PKP2_000092" "g.32955434_32955439delinsC" "16/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32802500_32802505delinsC" "" "pathogenic" "" "0000700859" "0" "50" "12" "32949139" "32949139" "subst" "0" "00006" "PKP2_000101" "g.32949139G>C" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32796205G>C" "" "VUS" "" "0000700860" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "00006" "PKP2_000107" "g.32949042C>T" "8/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "" "0000700861" "0" "90" "12" "32945666" "32945666" "subst" "0" "00006" "PKP2_000111" "g.32945666C>G" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32792732C>G" "" "pathogenic" "" "0000700862" "0" "90" "12" "32945662" "32945662" "subst" "0" "00006" "PKP2_000504" "g.32945662A>T" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32792728A>T" "" "pathogenic" "" "0000700863" "0" "90" "12" "32945647" "32945647" "del" "0" "00006" "PKP2_000112" "g.32945647del" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "2509delA" "" "Germline" "" "" "0" "" "" "g.32792713del" "" "pathogenic" "" "0000700864" "0" "50" "12" "32945615" "32945615" "subst" "0" "00006" "PKP2_000155" "g.32945615A>G" "1/361 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32792681A>G" "" "VUS" "" "0000701647" "0" "50" "12" "33049452" "33049452" "subst" "0" "00006" "PKP2_000172" "g.33049452C>A" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32896518C>A" "" "VUS" "" "0000701648" "0" "50" "12" "33031352" "33031352" "subst" "4.06114E-6" "00006" "PKP2_000185" "g.33031352G>C" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878418G>C" "" "VUS" "" "0000701649" "0" "50" "12" "33031341" "33031341" "subst" "6.49788E-5" "00006" "PKP2_000122" "g.33031341C>T" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.32878407C>T" "" "VUS" "" "0000701650" "0" "50" "12" "33031298" "33031298" "subst" "8.13557E-6" "00006" "PKP2_000189" "g.33031298G>T" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.32878364G>T" "" "VUS" "" "0000701651" "0" "50" "12" "32975483" "32975483" "subst" "1.21919E-5" "00006" "PKP2_000256" "g.32975483A>G" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.32822549A>G" "" "VUS" "" "0000704328" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "00006" "PKP2_000107" "g.32949042C>T" "" "{PMID:Isbister 2020:32931854}" "" "" "ACMG PVS1, PS4, PM2" "Germline" "" "" "0" "" "" "g.32796108C>T" "" "pathogenic" "ACMG" "0000704332" "0" "70" "12" "32949172" "32949172" "dup" "0" "00006" "PKP2_000525" "g.32949172dup" "" "{PMID:Isbister 2020:32931854}" "" "2361T>TT" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.32796238dup" "" "likely pathogenic" "ACMG" "0000708305" "0" "90" "12" "33031875" "33031876" "del" "0" "03288" "PKP2_000526" "g.33031875_33031876del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.32878941_32878942del" "" "pathogenic (dominant)" "ACMG" "0000724008" "0" "50" "12" "32949083" "32949083" "subst" "1.62437E-5" "01943" "PKP2_000527" "g.32949083C>T" "" "" "" "PKP2(NM_004572.3):c.2449G>A (p.G817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724009" "0" "50" "12" "32974477" "32974477" "subst" "0" "02330" "PKP2_000528" "g.32974477A>C" "" "" "" "PKP2(NM_004572.3):c.1972-14T>G, PKP2(NM_004572.4):c.1972-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724010" "0" "50" "12" "32994086" "32994086" "subst" "0" "02330" "PKP2_000529" "g.32994086C>T" "" "" "" "PKP2(NM_004572.3):c.1564G>A (p.E522K), PKP2(NM_004572.4):c.1564G>A (p.E522K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724011" "0" "50" "12" "32994086" "32994086" "subst" "0" "01943" "PKP2_000529" "g.32994086C>T" "" "" "" "PKP2(NM_004572.3):c.1564G>A (p.E522K), PKP2(NM_004572.4):c.1564G>A (p.E522K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724012" "0" "10" "12" "33003706" "33003706" "subst" "0.00111932" "02326" "PKP2_000227" "g.33003706T>C" "" "" "" "PKP2(NM_001005242.3):c.1372A>G (p.(Ile458Val)), PKP2(NM_004572.3):c.1372A>G (p.I458V), PKP2(NM_004572.4):c.1372A>G (p.I458V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724013" "0" "10" "12" "33031127" "33031127" "subst" "8.12295E-6" "02330" "PKP2_000530" "g.33031127G>A" "" "" "" "PKP2(NM_004572.4):c.687C>T (p.T229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724014" "0" "30" "12" "33031346" "33031346" "subst" "2.43677E-5" "02326" "PKP2_000531" "g.33031346C>T" "" "" "" "PKP2(NM_004572.3):c.468G>A (p.P156=), PKP2(NM_004572.4):c.468G>A (p.P156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724015" "0" "30" "12" "33049435" "33049435" "subst" "0" "01943" "PKP2_000532" "g.33049435C>T" "" "" "" "PKP2(NM_004572.3):c.223+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724016" "0" "10" "12" "33049680" "33049680" "subst" "0" "02330" "PKP2_000533" "g.33049680C>A" "" "" "" "PKP2(NM_004572.4):c.-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000784672" "0" "90" "12" "33030945" "33030945" "subst" "0" "01807" "PKP2_000534" "g.33030945C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000805695" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "02325" "PKP2_000107" "g.32949042C>T" "" "" "" "PKP2(NM_004572.3):c.2489+1G>A (p.?), PKP2(NM_004572.4):c.2489+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000805696" "0" "50" "12" "32955432" "32955432" "subst" "7.31356E-5" "02330" "PKP2_000129" "g.32955432C>T" "" "" "" "PKP2(NM_004572.4):c.2204G>A (p.R735Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805697" "0" "50" "12" "32976991" "32976991" "subst" "0" "02326" "PKP2_000535" "g.32976991C>G" "" "" "" "PKP2(NM_004572.3):c.1794G>C (p.Q598H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805698" "0" "50" "12" "32996195" "32996195" "subst" "0" "02330" "PKP2_000536" "g.32996195G>T" "" "" "" "PKP2(NM_004572.4):c.1431C>A (p.H477Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853379" "0" "30" "12" "32949140" "32949140" "subst" "0.00062133" "02327" "PKP2_000283" "g.32949140T>C" "" "" "" "PKP2(NM_004572.3):c.2392A>G (p.T798A), PKP2(NM_004572.4):c.2392A>G (p.T798A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853380" "0" "30" "12" "32955434" "32955434" "subst" "4.06306E-6" "02327" "PKP2_000400" "g.32955434G>C" "" "" "" "PKP2(NM_004572.4):c.2202C>G (p.T734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853381" "0" "30" "12" "32955485" "32955485" "subst" "3.65797E-5" "02326" "PKP2_000538" "g.32955485C>T" "" "" "" "PKP2(NM_004572.3):c.2151G>A (p.P717=), PKP2(NM_004572.4):c.2151G>A (p.P717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853383" "0" "50" "12" "32996172" "32996172" "subst" "4.27332E-6" "02327" "PKP2_000352" "g.32996172C>T" "" "" "" "PKP2(NM_004572.3):c.1454G>A (p.G485E), PKP2(NM_004572.4):c.1454G>A (p.G485E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853384" "0" "50" "12" "32996211" "32996211" "subst" "4.58062E-5" "02330" "PKP2_000356" "g.32996211G>A" "" "" "" "PKP2(NM_004572.3):c.1415C>T (p.P472L), PKP2(NM_004572.4):c.1415C>T (p.P472L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853385" "0" "30" "12" "33030842" "33030842" "subst" "0.000420254" "01943" "PKP2_000029" "g.33030842C>T" "" "" "" "PKP2(NM_004572.3):c.972G>A (p.A324=), PKP2(NM_004572.4):c.972G>A (p.A324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853386" "0" "30" "12" "33030887" "33030887" "subst" "5.28859E-5" "01943" "PKP2_000542" "g.33030887G>A" "" "" "" "PKP2(NM_004572.3):c.927C>T (p.A309=), PKP2(NM_004572.4):c.927C>T (p.A309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853387" "0" "30" "12" "33031232" "33031232" "subst" "4.06739E-6" "02327" "PKP2_000543" "g.33031232A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853388" "0" "50" "12" "33031350" "33031350" "subst" "5.68556E-5" "02325" "PKP2_000330" "g.33031350C>G" "" "" "" "PKP2(NM_004572.3):c.464G>C (p.S155T), PKP2(NM_004572.4):c.464G>C (p.S155T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853389" "0" "10" "12" "33031890" "33031890" "subst" "0" "02330" "PKP2_000545" "g.33031890G>T" "" "" "" "PKP2(NM_004572.4):c.300C>A (p.G100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853390" "0" "50" "12" "33031915" "33031915" "subst" "8.12321E-6" "01943" "PKP2_000546" "g.33031915A>G" "" "" "" "PKP2(NM_004572.3):c.275T>C (p.L92S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853391" "0" "30" "12" "33049453" "33049453" "subst" "0" "02327" "PKP2_000547" "g.33049453G>A" "" "" "" "PKP2(NM_004572.4):c.213C>T (p.S71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853392" "0" "90" "12" "33049518" "33049521" "del" "0" "02327" "PKP2_000002" "g.33049518_33049521del" "" "" "" "PKP2(NM_004572.4):c.148_151delACAG (p.T50Sfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862963" "0" "10" "12" "32949137" "32949137" "subst" "0" "02330" "PKP2_000537" "g.32949137A>G" "" "" "" "PKP2(NM_004572.4):c.2395T>C (p.L799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862964" "0" "30" "12" "32955485" "32955485" "subst" "3.65797E-5" "02330" "PKP2_000538" "g.32955485C>T" "" "" "" "PKP2(NM_004572.3):c.2151G>A (p.P717=), PKP2(NM_004572.4):c.2151G>A (p.P717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862965" "0" "30" "12" "32974302" "32974302" "subst" "0.000377785" "01943" "PKP2_000402" "g.32974302G>A" "" "" "" "PKP2(NM_004572.3):c.2133C>T (p.A711=), PKP2(NM_004572.4):c.2133C>T (p.A711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862966" "0" "50" "12" "32974351" "32974351" "subst" "2.0311E-5" "02325" "PKP2_000539" "g.32974351C>T" "" "" "" "PKP2(NM_004572.4):c.2084G>A (p.R695H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862967" "0" "90" "12" "32993961" "32993961" "subst" "4.06881E-6" "02327" "PKP2_000245" "g.32993961C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862968" "0" "50" "12" "33003840" "33003840" "subst" "7.31362E-5" "02326" "PKP2_000541" "g.33003840C>T" "" "" "" "PKP2(NM_004572.3):c.1238G>A (p.R413Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862969" "0" "30" "12" "33031454" "33031454" "subst" "2.47703E-5" "01943" "PKP2_000544" "g.33031454T>C" "" "" "" "PKP2(NM_004572.3):c.360A>G (p.E120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878894" "0" "90" "12" "33049658" "33049658" "del" "0" "04384" "PKP2_000548" "g.33049658del" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "g.32896724del" "" "pathogenic" "" "0000878895" "0" "90" "12" "33049674" "33049674" "del" "0" "04384" "PKP2_000549" "g.33049674del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.32896740del" "" "pathogenic" "" "0000878900" "0" "90" "12" "33030852" "33030852" "del" "0" "04384" "PKP2_000550" "g.33030852del" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "g.32877918del" "" "pathogenic" "" "0000881216" "0" "70" "12" "32949101" "32949101" "subst" "2.43645E-5" "02300" "PKP2_000551" "g.32949101G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP4" "Germline/De novo (untested)" "" "rs139734328" "0" "" "" "g.32796167G>A" "" "likely pathogenic (dominant)" "ACMG" "0000890531" "0" "50" "12" "32945585" "32945585" "subst" "4.06154E-6" "02326" "PKP2_000390" "g.32945585T>A" "" "" "" "PKP2(NM_004572.3):c.2570A>T (p.Y857F), PKP2(NM_004572.4):c.2570A>T (p.Y857F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890532" "0" "30" "12" "32949045" "32949045" "subst" "0.000146211" "02327" "PKP2_000105" "g.32949045A>G" "" "" "" "PKP2(NM_004572.4):c.2487T>C (p.D829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890533" "0" "30" "12" "32949098" "32949098" "subst" "4.8729E-5" "02327" "PKP2_000272" "g.32949098C>T" "" "" "" "PKP2(NM_004572.4):c.2434G>A (p.D812N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890534" "0" "50" "12" "32949172" "32949172" "subst" "0" "02330" "PKP2_000552" "g.32949172A>G" "" "" "" "PKP2(NM_004572.4):c.2360T>C (p.L787P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890535" "0" "50" "12" "32955344" "32955344" "subst" "0" "02327" "PKP2_000553" "g.32955344A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890536" "0" "90" "12" "32955491" "32955491" "subst" "3.65824E-5" "02330" "PKP2_000088" "g.32955491C>G" "" "" "" "PKP2(NM_004572.3):c.2146-1G>C, PKP2(NM_004572.4):c.2146-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890537" "0" "50" "12" "32974352" "32974352" "subst" "0.000134056" "02330" "PKP2_000262" "g.32974352G>A" "" "" "" "PKP2(NM_001005242.2):c.1951C>T (p.(Arg651Cys)), PKP2(NM_004572.4):c.2083C>T (p.R695C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890538" "0" "70" "12" "32977097" "32977097" "subst" "1.2249E-5" "02330" "PKP2_000152" "g.32977097C>G" "" "" "" "PKP2(NM_004572.4):c.1689-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890539" "0" "10" "12" "32994009" "32994009" "subst" "0.000479531" "02330" "PKP2_000060" "g.32994009A>G" "" "" "" "PKP2(NM_004572.4):c.1641T>C (p.N547=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890540" "0" "50" "12" "32994035" "32994035" "subst" "2.84384E-5" "02330" "PKP2_000554" "g.32994035G>C" "" "" "" "PKP2(NM_004572.4):c.1615C>G (p.P539A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890541" "0" "30" "12" "32994074" "32994074" "subst" "0.000138141" "02327" "PKP2_000239" "g.32994074T>C" "" "" "" "PKP2(NM_004572.3):c.1576A>G (p.T526A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890542" "0" "50" "12" "32996111" "32996111" "subst" "1.69163E-5" "02325" "PKP2_000051" "g.32996111C>T" "" "" "" "PKP2(NM_004572.3):c.1510+5G>A, PKP2(NM_004572.4):c.1510+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890543" "0" "30" "12" "32996129" "32996129" "subst" "1.9575E-5" "02326" "PKP2_000351" "g.32996129C>A" "" "" "" "PKP2(NM_004572.3):c.1497G>T (p.(Gln499His), p.Q499H), PKP2(NM_004572.4):c.1497G>T (p.Q499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890544" "0" "10" "12" "32996144" "32996144" "subst" "9.08043E-6" "02330" "PKP2_000555" "g.32996144T>C" "" "" "" "PKP2(NM_004572.4):c.1482A>G (p.S494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890545" "0" "50" "12" "33003888" "33003888" "subst" "1.21978E-5" "02325" "PKP2_000556" "g.33003888A>T" "" "" "" "PKP2(NM_004572.4):c.1190T>A (p.I397N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890546" "0" "50" "12" "33031009" "33031009" "subst" "4.06782E-5" "02327" "PKP2_000203" "g.33031009C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890547" "0" "10" "12" "33031023" "33031023" "subst" "0.00235395" "02326" "PKP2_000023" "g.33031023G>A" "" "" "" "PKP2(NM_004572.3):c.791C>T (p.A264V), PKP2(NM_004572.4):c.791C>T (p.A264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890548" "0" "30" "12" "33031026" "33031026" "subst" "2.03267E-5" "02327" "PKP2_000318" "g.33031026G>A" "" "" "" "PKP2(NM_004572.3):c.788C>T (p.T263M), PKP2(NM_004572.4):c.788C>T (p.T263M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890549" "0" "50" "12" "33031159" "33031159" "subst" "0" "02327" "PKP2_000324" "g.33031159T>C" "" "" "" "PKP2(NM_004572.3):c.655A>G (p.R219G), PKP2(NM_004572.4):c.655A>G (p.R219G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890550" "0" "30" "12" "33031837" "33031837" "subst" "0.000207216" "02326" "PKP2_000369" "g.33031837A>C" "" "" "" "PKP2(NM_004572.3):c.336+17T>G, PKP2(NM_004572.4):c.336+17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890551" "0" "50" "12" "33031883" "33031883" "subst" "4.06171E-6" "02326" "PKP2_000471" "g.33031883G>C" "" "" "" "PKP2(NM_004572.3):c.307C>G (p.P103A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890552" "0" "10" "12" "33049453" "33049453" "subst" "0" "02330" "PKP2_000547" "g.33049453G>A" "" "" "" "PKP2(NM_004572.4):c.213C>T (p.S71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890553" "0" "50" "12" "33049556" "33049556" "subst" "1.01685E-5" "02330" "PKP2_000557" "g.33049556T>C" "" "" "" "PKP2(NM_004572.4):c.110A>G (p.K37R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890554" "0" "30" "12" "33049621" "33049621" "subst" "0.00011048" "02327" "PKP2_000161" "g.33049621G>A" "" "" "" "PKP2(NM_004572.4):c.45C>T (p.T15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909174" "0" "70" "12" "32993961" "33003908" "del" "0" "00006" "PKP2_000558" "g.(32985529_32993961)_(33003908_33012883)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(32832595_32841027)_(32850974_32859949)del" "" "likely pathogenic" "" "0000909175" "0" "70" "12" "32993961" "33003908" "del" "0" "00006" "PKP2_000558" "g.(32985529_32993961)_(33003908_33012883)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(32832595_32841027)_(32850974_32859949)del" "" "likely pathogenic" "" "0000909176" "0" "70" "12" "32993961" "33003908" "del" "0" "00006" "PKP2_000558" "g.(32985529_32993961)_(33003908_33012883)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(32832595_32841027)_(32850974_32859949)del" "" "likely pathogenic" "" "0000909177" "0" "70" "12" "32993961" "33003908" "del" "0" "00006" "PKP2_000558" "g.(32985529_32993961)_(33003908_33012883)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as candidate gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(32832595_32841027)_(32850974_32859949)del" "" "likely pathogenic" "" "0000913830" "0" "90" "12" "32945602" "32945602" "del" "0" "02330" "PKP2_000126" "g.32945602del" "" "" "" "PKP2(NM_004572.4):c.2554delG (p.E852Nfs*79)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913831" "0" "30" "12" "32996142" "32996142" "subst" "0" "02327" "PKP2_000559" "g.32996142C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913832" "0" "30" "12" "32996177" "32996177" "subst" "8.08999E-5" "02327" "PKP2_000353" "g.32996177A>G" "" "" "" "PKP2(NM_004572.4):c.1449T>C (p.T483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913833" "0" "50" "12" "33021950" "33021950" "subst" "4.06421E-6" "02330" "PKP2_000560" "g.33021950C>G" "" "" "" "PKP2(NM_004572.4):c.1081G>C (p.E361Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913834" "0" "50" "12" "33030860" "33030860" "subst" "0" "02330" "PKP2_000561" "g.33030860G>C" "" "" "" "PKP2(NM_004572.4):c.954C>G (p.H318Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913835" "0" "30" "12" "33031309" "33031309" "subst" "0.00116228" "02325" "PKP2_000148" "g.33031309T>C" "" "" "" "PKP2(NM_004572.3):c.505A>G (p.S169G), PKP2(NM_004572.4):c.505A>G (p.S169G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913836" "0" "10" "12" "33031346" "33031346" "subst" "2.43677E-5" "02330" "PKP2_000531" "g.33031346C>T" "" "" "" "PKP2(NM_004572.3):c.468G>A (p.P156=), PKP2(NM_004572.4):c.468G>A (p.P156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925621" "0" "30" "12" "32949140" "32949140" "subst" "0.00062133" "02326" "PKP2_000283" "g.32949140T>C" "" "" "" "PKP2(NM_004572.3):c.2392A>G (p.T798A), PKP2(NM_004572.4):c.2392A>G (p.T798A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925622" "0" "30" "12" "33021938" "33021938" "subst" "0.000260061" "02326" "PKP2_000216" "g.33021938T>C" "" "" "" "PKP2(NM_004572.3):c.1093A>G (p.M365V), PKP2(NM_004572.4):c.1093A>G (p.M365V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925623" "0" "50" "12" "33031228" "33031228" "subst" "1.21985E-5" "02330" "PKP2_000562" "g.33031228G>A" "" "" "" "PKP2(NM_004572.4):c.586C>T (p.R196C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925624" "0" "90" "12" "33031424" "33031424" "subst" "4.0806E-6" "02330" "PKP2_000563" "g.33031424G>C" "" "" "" "PKP2(NM_004572.4):c.390C>G (p.Y130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930081" "0" "50" "12" "32945405" "32945405" "subst" "0" "02327" "PKP2_000564" "g.32945405A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930082" "0" "90" "12" "32974401" "32974401" "subst" "0" "02330" "PKP2_000260" "g.32974401C>T" "" "" "" "PKP2(NM_004572.3):c.2034G>A (p.W678*), PKP2(NM_004572.4):c.2034G>A (p.W678*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930083" "0" "50" "12" "32975561" "32975561" "subst" "5.6942E-5" "02330" "PKP2_000565" "g.32975561G>A" "" "" "" "PKP2(NM_004572.4):c.1811C>T (p.T604M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930084" "0" "50" "12" "32994077" "32994077" "subst" "0" "02330" "PKP2_000346" "g.32994077G>C" "" "" "" "PKP2(NM_004572.3):c.1573C>G (p.L525V), PKP2(NM_004572.4):c.1573C>G (p.L525V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930085" "0" "30" "12" "33021959" "33021959" "subst" "0" "02327" "PKP2_000566" "g.33021959T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930086" "0" "30" "12" "33031203" "33031203" "subst" "7.71724E-5" "02326" "PKP2_000325" "g.33031203C>T" "" "" "" "PKP2(NM_004572.3):c.611G>A (p.R204H), PKP2(NM_004572.4):c.611G>A (p.R204H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930087" "0" "50" "12" "33031341" "33031341" "subst" "6.49788E-5" "02330" "PKP2_000122" "g.33031341C>T" "" "" "" "PKP2(NM_004572.4):c.473G>A (p.R158K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949937" "0" "10" "12" "32949036" "32949036" "subst" "0" "02330" "PKP2_000567" "g.32949036G>A" "" "" "" "PKP2(NM_004572.4):c.2489+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949938" "0" "90" "12" "32974301" "32974301" "subst" "0" "02330" "PKP2_000568" "g.32974301C>A" "" "" "" "PKP2(NM_004572.4):c.2134G>T (p.G712*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949939" "0" "10" "12" "33003926" "33003926" "subst" "1.23121E-5" "02330" "PKP2_000569" "g.33003926C>A" "" "" "" "PKP2(NM_004572.4):c.1171-19G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949941" "0" "50" "12" "33030903" "33030903" "subst" "0" "02330" "PKP2_000570" "g.33030903G>C" "" "" "" "PKP2(NM_004572.4):c.911C>G (p.A304G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949942" "0" "10" "12" "33049444" "33049444" "subst" "0" "02330" "PKP2_000571" "g.33049444G>A" "" "" "" "PKP2(NM_004572.4):c.222C>T (p.N74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000957843" "0" "50" "12" "33021917" "33021917" "subst" "0.000597294" "00006" "PKP2_000035" "g.33021917C>G" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32868983C>G" "" "VUS" "" "0000959832" "0" "50" "12" "32949584" "32949584" "subst" "0" "03779" "PKP2_000572" "g.32949584C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs151167050" "0" "" "" "" "" "VUS" "" "0000966876" "0" "90" "12" "32949042" "32949042" "subst" "2.03077E-5" "01804" "PKP2_000107" "g.32949042C>T" "" "" "" "PKP2(NM_004572.3):c.2489+1G>A (p.?), PKP2(NM_004572.4):c.2489+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966877" "0" "10" "12" "32977012" "32977012" "subst" "4.06583E-6" "02330" "PKP2_000573" "g.32977012T>C" "" "" "" "PKP2(NM_004572.4):c.1773A>G (p.R591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966878" "0" "10" "12" "32977060" "32977060" "subst" "4.06788E-6" "02330" "PKP2_000574" "g.32977060C>T" "" "" "" "PKP2(NM_004572.4):c.1725G>A (p.A575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000966879" "0" "30" "12" "32996205" "32996205" "subst" "0.000175582" "02326" "PKP2_000232" "g.32996205G>A" "" "" "" "PKP2(NM_004572.3):c.1421C>T (p.A474V), PKP2(NM_004572.4):c.1421C>T (p.A474V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966880" "0" "50" "12" "33030980" "33030980" "subst" "0" "02330" "PKP2_000314" "g.33030980C>A" "" "" "" "PKP2(NM_004572.3):c.834G>T (p.Q278H), PKP2(NM_004572.4):c.834G>T (p.Q278H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966881" "0" "50" "12" "33031450" "33031450" "subst" "3.29731E-5" "02326" "PKP2_000368" "g.33031450G>A" "" "" "" "PKP2(NM_004572.3):c.364C>T (p.R122C), PKP2(NM_004572.4):c.364C>T (p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980233" "0" "50" "12" "32949068" "32949068" "subst" "4.46704E-5" "02330" "PKP2_000575" "g.32949068T>C" "" "" "" "PKP2(NM_004572.4):c.2464A>G (p.I822V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980234" "0" "30" "12" "32977026" "32977026" "subst" "0.00243541" "01804" "PKP2_000068" "g.32977026C>T" "" "" "" "PKP2(NM_001005242.3):c.1627G>A (p.(Val543Ile)), PKP2(NM_004572.3):c.1759G>A (p.V587I), PKP2(NM_004572.4):c.1759G>A (p.V587I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980235" "0" "30" "12" "33003706" "33003706" "subst" "0.00111932" "01804" "PKP2_000227" "g.33003706T>C" "" "" "" "PKP2(NM_001005242.3):c.1372A>G (p.(Ile458Val)), PKP2(NM_004572.3):c.1372A>G (p.I458V), PKP2(NM_004572.4):c.1372A>G (p.I458V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980236" "0" "50" "12" "33003785" "33003785" "subst" "0" "02330" "PKP2_000576" "g.33003785C>A" "" "" "" "PKP2(NM_004572.4):c.1293G>T (p.L431F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980237" "0" "90" "12" "33003867" "33003867" "dup" "0" "01804" "PKP2_000042" "g.33003867dup" "" "" "" "PKP2(NM_001005242.3):c.1211dup (p.(Val406SerfsTer4)), PKP2(NM_004572.3):c.1211dupT (p.V406Sfs*4), PKP2(NM_004572.4):c.1210delCinsCT (p.V406Sfs*4), ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980238" "0" "90" "12" "33003869" "33003869" "del" "0" "02326" "PKP2_000577" "g.33003869del" "" "" "" "PKP2(NM_004572.3):c.1210delC (p.L404*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980239" "0" "10" "12" "33030802" "33030802" "subst" "0.0022214" "01804" "PKP2_000033" "g.33030802T>C" "" "" "" "PKP2(NM_001005242.3):c.1012A>G (p.(Thr338Ala)), PKP2(NM_004572.3):c.1012A>G (p.T338A), PKP2(NM_004572.4):c.1012A>G (p.T338A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980240" "0" "50" "12" "33030874" "33030874" "subst" "5.28864E-5" "02330" "PKP2_000578" "g.33030874C>T" "" "" "" "PKP2(NM_004572.4):c.940G>A (p.G314R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980241" "0" "90" "12" "33031417" "33031417" "subst" "0" "01804" "PKP2_000017" "g.33031417G>A" "" "" "" "PKP2(NM_001005242.2):c.397C>T (p.(Gln133Ter)), PKP2(NM_004572.3):c.397C>T (p.Q133*), PKP2(NM_004572.4):c.397C>T (p.Q133*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980242" "0" "50" "12" "33031883" "33031883" "subst" "0.000129975" "02330" "PKP2_000015" "g.33031883G>T" "" "" "" "PKP2(NM_004572.4):c.307C>A (p.P103T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980243" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "01804" "PKP2_000013" "g.33031955G>A" "" "" "" "PKP2(NM_001005242.3):c.235C>T (p.(Arg79Ter)), PKP2(NM_004572.3):c.235C>T (p.R79*), PKP2(NM_004572.4):c.235C>T (p.R79*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980244" "0" "90" "12" "33049518" "33049521" "del" "0" "02325" "PKP2_000002" "g.33049518_33049521del" "" "" "" "PKP2(NM_004572.4):c.148_151delACAG (p.T50Sfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985216" "0" "90" "12" "32977011" "32977011" "del" "0" "03779" "PKP2_000580" "g.32977011del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000985217" "0" "90" "12" "32975480" "32975480" "del" "0" "03779" "PKP2_000579" "g.32975480del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000989338" "0" "90" "12" "32955434" "32955439" "delins" "0" "03779" "PKP2_000092" "g.32955434_32955439delinsC" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000989749" "0" "90" "12" "33031877" "33031877" "del" "0" "02515" "PKP2_000522" "g.33031877del" "" "Fusco 2042, submitted" "" "NM_001005242.3:c.314del" "variant definitively linked to disease" "Germline" "" "rs794729121" "0" "" "" "g.32878943del" "202011" "pathogenic" "" "0000989750" "0" "50" "12" "33030919" "33030919" "subst" "6.91484E-5" "02515" "PKP2_000207" "g.33030919G>A" "" "Fusco 2042, submitted" "" "NM_001005242.3:c.895C>T" "variant not definitively linked to disease" "Germline" "" "rs564987195" "0" "" "" "g.32877985G>A" "" "VUS" "" "0000989751" "0" "50" "12" "32996111" "32996111" "subst" "1.69163E-5" "02515" "PKP2_000051" "g.32996111C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs779392697" "0" "" "" "g.32843177C>T" "" "VUS" "" "0000989818" "0" "90" "12" "32945427" "32945427" "subst" "0" "02515" "PKP2_000581" "g.32945427C>T" "" "Fusco 2042, submitted" "" "NM_001005242.3:c.2446-1G>A" "variant not definitively linked to disease" "Germline" "" "" "0" "" "" "g.32792493C>T" "" "pathogenic" "" "0000999958" "0" "30" "12" "32945373" "32945373" "subst" "0.000174628" "02325" "PKP2_000119" "g.32945373G>T" "" "" "" "PKP2(NM_004572.4):c.2631C>A (p.H877Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999959" "0" "50" "12" "32949038" "32949038" "subst" "0" "02329" "PKP2_000582" "g.32949038C>T" "" "" "" "PKP2(NM_004572.4):c.2489+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999960" "0" "30" "12" "32949167" "32949167" "subst" "0.000341178" "02326" "PKP2_000284" "g.32949167T>C" "" "" "" "PKP2(NM_004572.3):c.2365A>G (p.I789V), PKP2(NM_004572.4):c.2365A>G (p.I789V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999961" "0" "50" "12" "32955348" "32955348" "subst" "0" "02330" "PKP2_000583" "g.32955348T>C" "" "" "" "PKP2(NM_004572.4):c.2288A>G (p.Q763R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999962" "0" "30" "12" "32974461" "32974461" "subst" "2.43813E-5" "02330" "PKP2_000584" "g.32974461T>C" "" "" "" "PKP2(NM_004572.4):c.1974A>G (p.Q658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999963" "0" "50" "12" "32974477" "32974477" "subst" "0" "02326" "PKP2_000528" "g.32974477A>C" "" "" "" "PKP2(NM_004572.3):c.1972-14T>G, PKP2(NM_004572.4):c.1972-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999964" "0" "50" "12" "32977004" "32977004" "subst" "0" "01804" "PKP2_000379" "g.32977004A>G" "" "" "" "PKP2(NM_001005242.2):c.1649T>C (p.(Ile550Thr)), PKP2(NM_004572.4):c.1781T>C (p.I594T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999965" "0" "30" "12" "32996129" "32996129" "subst" "1.9575E-5" "01804" "PKP2_000351" "g.32996129C>A" "" "" "" "PKP2(NM_004572.3):c.1497G>T (p.(Gln499His), p.Q499H), PKP2(NM_004572.4):c.1497G>T (p.Q499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999966" "0" "70" "12" "33021869" "33021869" "subst" "4.06369E-6" "02329" "PKP2_000078" "g.33021869G>A" "" "" "" "PKP2(NM_004572.4):c.1162C>T (p.R388W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999967" "0" "30" "12" "33030770" "33030770" "subst" "0.000181363" "02326" "PKP2_000304" "g.33030770G>A" "" "" "" "PKP2(NM_004572.3):c.1034+10C>T, PKP2(NM_004572.4):c.1034+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999968" "0" "50" "12" "33030804" "33030804" "subst" "1.63885E-5" "02330" "PKP2_000585" "g.33030804C>T" "" "" "" "PKP2(NM_004572.4):c.1010G>A (p.S337N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999969" "0" "30" "12" "33031065" "33031065" "subst" "4.06752E-6" "02326" "PKP2_000586" "g.33031065C>T" "" "" "" "PKP2(NM_004572.3):c.749G>A (p.R250H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999970" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "02329" "PKP2_000013" "g.33031955G>A" "" "" "" "PKP2(NM_001005242.3):c.235C>T (p.(Arg79Ter)), PKP2(NM_004572.3):c.235C>T (p.R79*), PKP2(NM_004572.4):c.235C>T (p.R79*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999971" "0" "30" "12" "33049495" "33049495" "subst" "0" "02330" "PKP2_000587" "g.33049495C>T" "" "" "" "PKP2(NM_004572.4):c.171G>A (p.Q57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007498" "0" "90" "12" "32955435" "32955439" "del" "0" "00006" "PKP2_000588" "g.32955435_32955439del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001005242.3:c.2066_2070del" "" "Germline" "" "rs397517021" "0" "" "" "g.32802501_32802505del" "" "pathogenic" "" "0001007499" "0" "90" "12" "33031955" "33031955" "subst" "4.06296E-6" "00006" "PKP2_000013" "g.33031955G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs121434420" "0" "" "" "g.32879021G>A" "" "pathogenic" "" "0001007500" "0" "70" "12" "33049497" "33049497" "subst" "0" "00006" "PKP2_000589" "g.33049497G>A" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001005242.3:c.196G>A" "" "Germline" "" "" "0" "" "" "g.32896563G>A" "" "VUS" "" "0001014961" "0" "50" "12" "32955345" "32955345" "subst" "8.12374E-6" "02330" "PKP2_000590" "g.32955345T>C" "" "" "" "PKP2(NM_004572.4):c.2291A>G (p.N764S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014962" "0" "90" "12" "32977030" "32977031" "ins" "0" "02325" "PKP2_000591" "g.32977030_32977031insAGAGT" "" "" "" "PKP2(NM_004572.4):c.1757_1758insCTACT (p.V587Yfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014963" "0" "10" "12" "33030887" "33030887" "subst" "5.28859E-5" "02330" "PKP2_000542" "g.33030887G>A" "" "" "" "PKP2(NM_004572.3):c.927C>T (p.A309=), PKP2(NM_004572.4):c.927C>T (p.A309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014964" "0" "10" "12" "33031100" "33031100" "subst" "5.28198E-5" "02330" "PKP2_000467" "g.33031100C>T" "" "" "" "PKP2(NM_004572.3):c.714G>A (p.P238=), PKP2(NM_004572.4):c.714G>A (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014965" "0" "50" "12" "33031159" "33031159" "subst" "0" "02326" "PKP2_000324" "g.33031159T>C" "" "" "" "PKP2(NM_004572.3):c.655A>G (p.R219G), PKP2(NM_004572.4):c.655A>G (p.R219G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014966" "0" "50" "12" "33031180" "33031180" "subst" "0" "02325" "PKP2_000593" "g.33031180G>T" "" "" "" "PKP2(NM_004572.4):c.634C>A (p.R212S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014967" "0" "10" "12" "33031884" "33031884" "subst" "0.00035336" "02330" "PKP2_000472" "g.33031884G>T" "" "" "" "PKP2(NM_004572.3):c.306C>A (p.S102=), PKP2(NM_004572.4):c.306C>A (p.S102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014968" "0" "70" "12" "33049611" "33049611" "subst" "0" "02330" "PKP2_000008" "g.33049611G>A" "" "" "" "PKP2(NM_004572.4):c.55C>T (p.Q19*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001016076" "0" "50" "12" "32993981" "32993981" "subst" "3.65964E-5" "03779" "PKP2_000592" "g.32993981T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs200343561" "0" "" "" "" "" "VUS" "" "0001026168" "0" "50" "12" "32945651" "32945651" "subst" "1.2187E-5" "02325" "PKP2_000380" "g.32945651T>C" "" "" "" "PKP2(NM_004572.4):c.2504A>G (p.K835R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026169" "0" "90" "12" "32949038" "32949038" "subst" "0" "02330" "PKP2_000582" "g.32949038C>T" "" "" "" "PKP2(NM_004572.4):c.2489+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026170" "0" "50" "12" "32949095" "32949095" "subst" "4.06068E-6" "02330" "PKP2_000594" "g.32949095G>A" "" "" "" "PKP2(NM_004572.4):c.2437C>T (p.L813F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026171" "0" "90" "12" "32994138" "32994138" "del" "0" "02325" "PKP2_000595" "g.32994138del" "" "" "" "PKP2(NM_004572.4):c.1514delT (p.L505Cfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026172" "0" "50" "12" "32996129" "32996129" "subst" "1.9575E-5" "02330" "PKP2_000351" "g.32996129C>A" "" "" "" "PKP2(NM_004572.3):c.1497G>T (p.(Gln499His), p.Q499H), PKP2(NM_004572.4):c.1497G>T (p.Q499H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026173" "0" "30" "12" "33030896" "33030896" "subst" "4.0664E-5" "02326" "PKP2_000501" "g.33030896G>A" "" "" "" "PKP2(NM_004572.3):c.918C>T (p.P306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026174" "0" "50" "12" "33031026" "33031026" "subst" "2.03267E-5" "02326" "PKP2_000318" "g.33031026G>A" "" "" "" "PKP2(NM_004572.3):c.788C>T (p.T263M), PKP2(NM_004572.4):c.788C>T (p.T263M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026175" "0" "50" "12" "33031167" "33031167" "subst" "0" "02330" "PKP2_000596" "g.33031167G>T" "" "" "" "PKP2(NM_004572.4):c.647C>A (p.T216K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026176" "0" "30" "12" "33031309" "33031309" "subst" "0.00116228" "02326" "PKP2_000148" "g.33031309T>C" "" "" "" "PKP2(NM_004572.3):c.505A>G (p.S169G), PKP2(NM_004572.4):c.505A>G (p.S169G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039201" "0" "50" "12" "32945389" "32945389" "subst" "4.06121E-6" "01804" "PKP2_000118" "g.32945389G>A" "" "" "" "PKP2(NM_001005242.3):c.2483C>T (p.(Thr828Ile)), PKP2(NM_004572.3):c.2615C>T (p.T872I), PKP2(NM_004572.4):c.2615C>T (p.T872I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039202" "0" "10" "12" "32955330" "32955330" "subst" "0.0275058" "01804" "PKP2_000096" "g.32955330G>A" "" "" "" "PKP2(NM_001005242.3):c.2167+7C>T, PKP2(NM_004572.3):c.2299+7C>T, PKP2(NM_004572.4):c.2299+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001039203" "0" "50" "12" "32994139" "32994139" "subst" "0" "02330" "PKP2_000597" "g.32994139C>T" "" "" "" "PKP2(NM_004572.4):c.1511G>A (p.G504D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039204" "0" "30" "12" "32996111" "32996111" "subst" "1.69163E-5" "01804" "PKP2_000051" "g.32996111C>T" "" "" "" "PKP2(NM_004572.3):c.1510+5G>A, PKP2(NM_004572.4):c.1510+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039205" "0" "30" "12" "32996124" "32996124" "subst" "0" "01804" "PKP2_000598" "g.32996124T>C" "" "" "" "PKP2(NM_004572.4):c.1502A>G (p.(Asp501Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039206" "0" "30" "12" "32996139" "32996139" "subst" "4.61574E-5" "01804" "PKP2_000599" "g.32996139A>T" "" "" "" "PKP2(NM_004572.4):c.1487T>A (p.(Val496Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039207" "0" "30" "12" "33030989" "33030989" "subst" "0" "02330" "PKP2_000600" "g.33030989C>G" "" "" "" "PKP2(NM_004572.4):c.825G>C (p.V275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039208" "0" "30" "12" "33049590" "33049590" "subst" "0.00839651" "01804" "PKP2_000001" "g.33049590C>T" "" "" "" "PKP2(NM_001005242.3):c.76G>A (p.(Asp26Asn)), PKP2(NM_004572.3):c.76G>A (p.D26N), PKP2(NM_004572.4):c.76G>A (p.D26N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045107" "0" "70" "12" "32949233" "32949233" "subst" "0" "03779" "PKP2_000481" "g.32949233C>T" "" "" "" "" "" "Unknown" "" "rs1060501184" "0" "" "" "" "" "likely pathogenic" "" "0001046375" "0" "50" "12" "32975420" "32975420" "subst" "4.06369E-6" "02325" "PKP2_000601" "g.32975420C>T" "" "" "" "PKP2(NM_004572.4):c.1952G>A (p.R651Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046376" "0" "30" "12" "33031888" "33031888" "subst" "0.000154346" "02326" "PKP2_000178" "g.33031888C>T" "" "" "" "PKP2(NM_004572.3):c.302G>A (p.R101H), PKP2(NM_004572.4):c.302G>A (p.R101H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054276" "0" "50" "12" "32949241" "32949241" "subst" "0" "01804" "PKP2_000602" "g.32949241T>G" "" "" "" "PKP2(NM_001005242.3):c.2168-9A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054277" "0" "10" "12" "33049492" "33049492" "subst" "0.00577997" "01804" "PKP2_000004" "g.33049492C>A" "" "" "" "PKP2(NM_001005242.3):c.174G>T (p.(Glu58Asp)), PKP2(NM_004572.3):c.174G>T (p.E58D), PKP2(NM_004572.4):c.174G>T (p.E58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001059018" "0" "90" "12" "32994008" "32994008" "del" "0" "00006" "PKP2_000061" "g.32994008del" "" "{PMID:Retterer 2016:26633542}" "" "1643delG" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.32841074del" "" "pathogenic" "" "0001060680" "0" "70" "12" "33031479" "33031479" "subst" "0" "00006" "PKP2_000521" "g.33031479T>A" "" "{PMID:Wai 2020:32123317}" "" "" "downstream exon skipped" "Germline" "" "rs786204389" "0" "" "" "g.32878545T>A" "" "likely pathogenic" "" ## 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 PKP2 ## Count = 1659 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "0000005126" "00025790" "50" "223" "700" "223" "700" "c.223+700A>G" "r.(=)" "p.(=)" "" "" "0000005126" "00001012" "50" "223" "700" "223" "700" "c.223+700A>G" "r.(=)" "p.(=)" "1i" "" "0000013069" "00025790" "50" "223" "700" "223" "700" "c.223+700A>G" "r.(=)" "p.(=)" "" "" "0000013069" "00001012" "50" "223" "700" "223" "700" "c.223+700A>G" "r.(=)" "p.(=)" "1i" "" "0000036107" "00025790" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000036107" "00001012" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "1" "" "0000052352" "00001012" "10" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "7" "" "0000052358" "00001012" "10" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "7" "" "0000052367" "00001012" "10" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Ile594Thr)" "8" "" "0000052370" "00001012" "50" "2504" "0" "2504" "0" "c.2504A>G" "r.(?)" "p.(Lys835Arg)" "13" "" "0000088995" "00001012" "30" "2524" "0" "2524" "0" "c.2524G>A" "r.(?)" "p.(Val842Ile)" "13" "" "0000089000" "00001012" "30" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "7" "" "0000089005" "00001012" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "2" "" "0000095128" "00001012" "90" "1440" "0" "1444" "0" "c.1440_1444del" "r.(?)" "p.(Asn480Lysfs*20)" "6" "" "0000095130" "00001012" "50" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "1" "" "0000095132" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "" "0000095133" "00001012" "70" "1060" "0" "1060" "0" "c.1060G>C" "r.(?)" "p.(Glu354Gln)" "4" "" "0000095134" "00001012" "90" "2009" "0" "2009" "0" "c.2009del" "r.(?)" "p.(Asn670Thrfs*14)" "10" "" "0000095226" "00001012" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Thr162Met)" "3" "" "0000095249" "00001012" "50" "1809" "0" "1809" "0" "c.1809T>G" "r.(?)" "p.(Cys603Trp)" "9" "" "0000095285" "00001012" "50" "1809" "0" "1809" "0" "c.1809T>G" "r.(?)" "p.(Cys603Trp)" "9" "" "0000095354" "00001012" "50" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "5" "" "0000095488" "00001012" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "2" "" "0000095528" "00001012" "50" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "5" "" "0000095535" "00001012" "50" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "1" "" "0000095662" "00001012" "50" "775" "0" "775" "0" "c.775G>T" "r.(?)" "p.(Glu259*)" "3" "" "0000096507" "00001012" "70" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "1" "" "0000096522" "00001012" "50" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "7" "" "0000096531" "00001012" "50" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "12" "" "0000096556" "00001012" "50" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "10" "" "0000117649" "00001012" "90" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "" "0000117650" "00001012" "90" "275" "0" "275" "0" "c.275T>A" "r.(?)" "p.(Leu92*)" "2" "" "0000163236" "00001012" "70" "2013" "0" "2013" "0" "c.2013del" "r.(?)" "p.(Lys672Argfs*12)" "10" "" "0000163237" "00001012" "70" "2569" "0" "2577" "41" "c.2569_2577+41del" "r.spl?" "p.?" "13_13i" "" "0000164589" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "" "0000164593" "00001012" "90" "218" "0" "218" "0" "c.218dup" "r.(?)" "p.(Asn74Glnfs*12)" "1" "" "0000164599" "00001012" "90" "535" "0" "536" "0" "c.535_536insTC" "r.(?)" "p.(His179Leufs*12)" "3" "" "0000164608" "00001012" "90" "1630" "0" "1631" "0" "c.1630_1631insTT" "r.(?)" "p.(Pro544Leufs*20)" "7" "" "0000164609" "00001012" "90" "1643" "0" "1643" "0" "c.1643del" "r.(?)" "p.(Gly548Valfs*15)" "7" "" "0000164612" "00001012" "90" "1748" "0" "1755" "0" "c.1748_1755dup" "r.(?)" "p.(Val587Thrfs*72)" "8" "" "0000164623" "00001012" "90" "2076" "0" "2077" "0" "c.2076_2077del" "r.(?)" "p.(Ser693Cysfs*49)" "10" "" "0000164624" "00001012" "90" "2087" "0" "2087" "0" "c.2087dup" "r.(?)" "p.(Asn696Lysfs*47)" "10" "" "0000164626" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000164627" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000164630" "00001012" "90" "2197" "0" "2202" "0" "c.2197_2202delinsG" "r.(?)" "p.(His733Alafs*8)" "11" "" "0000164632" "00001012" "90" "2196" "0" "2197" "0" "c.2196_2197ins(28)" "r.(?)" "p.(His733?fs*7)" "11" "" "0000164634" "00001012" "90" "2393" "0" "2401" "0" "c.2393_2401del" "r.(?)" "p.(Thr798_Asn800del)" "12" "" "0000164636" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "12i" "" "0000164637" "00001012" "90" "2490" "-1" "2490" "-1" "c.2490-1G>C" "r.spl" "p.?" "12i" "" "0000218426" "00001012" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000218479" "00001012" "50" "277" "0" "277" "0" "c.277G>T" "r.(?)" "p.(Val93Phe)" "" "" "0000218499" "00001012" "50" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "" "" "0000235438" "00001012" "50" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "3" "" "0000247070" "00025790" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000247070" "00001012" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000247073" "00025790" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000247073" "00001012" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000247080" "00025790" "10" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Ala372=)" "" "" "0000247080" "00001012" "10" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Ala372=)" "" "" "0000247082" "00025790" "10" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000247082" "00001012" "10" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000247084" "00025790" "50" "1930" "0" "1930" "0" "c.1930T>C" "r.(?)" "p.(Ser644Pro)" "" "" "0000247084" "00001012" "50" "2062" "0" "2062" "0" "c.2062T>C" "r.(?)" "p.(Ser688Pro)" "" "" "0000247091" "00025790" "10" "2168" "-11" "2168" "-11" "c.2168-11del" "r.(=)" "p.(=)" "" "" "0000247091" "00001012" "10" "2300" "-11" "2300" "-11" "c.2300-11del" "r.(=)" "p.(=)" "" "" "0000247092" "00025790" "90" "2254" "0" "2254" "0" "c.2254T>C" "r.(?)" "p.(Cys752Arg)" "" "" "0000247092" "00001012" "90" "2386" "0" "2386" "0" "c.2386T>C" "r.(?)" "p.(Cys796Arg)" "" "" "0000247102" "00025790" "50" "2213" "0" "2213" "0" "c.2213T>C" "r.(?)" "p.(Val738Ala)" "" "" "0000247102" "00001012" "50" "2345" "0" "2345" "0" "c.2345T>C" "r.(?)" "p.(Val782Ala)" "" "" "0000247114" "00025790" "10" "2355" "0" "2355" "0" "c.2355T>C" "r.(?)" "p.(Asp785=)" "" "" "0000247114" "00001012" "10" "2487" "0" "2487" "0" "c.2487T>C" "r.(?)" "p.(Asp829=)" "" "" "0000247115" "00025790" "10" "1379" "-2038" "1379" "-2038" "c.1379-2038T>C" "r.(=)" "p.(=)" "" "" "0000247115" "00001012" "10" "1449" "0" "1449" "0" "c.1449T>C" "r.(?)" "p.(Thr483=)" "" "" "0000247154" "00025790" "10" "2168" "-19" "2168" "-19" "c.2168-19T>A" "r.(=)" "p.(=)" "" "" "0000247154" "00001012" "10" "2300" "-19" "2300" "-19" "c.2300-19T>A" "r.(=)" "p.(=)" "" "" "0000247170" "00025790" "30" "336" "17" "336" "17" "c.336+17T>G" "r.(=)" "p.(=)" "" "" "0000247170" "00001012" "30" "336" "17" "336" "17" "c.336+17T>G" "r.(=)" "p.(=)" "" "" "0000247842" "00025790" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000247842" "00001012" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000247880" "00025790" "30" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000247880" "00001012" "30" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000248286" "00025790" "90" "2254" "0" "2254" "0" "c.2254T>C" "r.(?)" "p.(Cys752Arg)" "" "" "0000248286" "00001012" "90" "2386" "0" "2386" "0" "c.2386T>C" "r.(?)" "p.(Cys796Arg)" "" "" "0000249561" "00025790" "30" "2358" "-6" "2358" "-6" "c.2358-6T>C" "r.(=)" "p.(=)" "" "" "0000249561" "00001012" "30" "2490" "-6" "2490" "-6" "c.2490-6T>C" "r.(=)" "p.(=)" "" "" "0000249710" "00025790" "50" "2213" "0" "2213" "0" "c.2213T>C" "r.(?)" "p.(Val738Ala)" "" "" "0000249710" "00001012" "50" "2345" "0" "2345" "0" "c.2345T>C" "r.(?)" "p.(Val782Ala)" "" "" "0000249802" "00025790" "50" "418" "0" "418" "0" "c.418T>A" "r.(?)" "p.(Ser140Thr)" "" "" "0000249802" "00001012" "50" "418" "0" "418" "0" "c.418T>A" "r.(?)" "p.(Ser140Thr)" "" "" "0000250624" "00025790" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000250624" "00001012" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000250662" "00025790" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000250662" "00001012" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000250790" "00025790" "30" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000250790" "00001012" "30" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000251747" "00025790" "30" "2168" "-11" "2168" "-11" "c.2168-11del" "r.(=)" "p.(=)" "" "" "0000251747" "00001012" "30" "2300" "-11" "2300" "-11" "c.2300-11del" "r.(=)" "p.(=)" "" "" "0000252213" "00025790" "30" "2168" "-12" "2168" "-12" "c.2168-12T>C" "r.(=)" "p.(=)" "" "" "0000252213" "00001012" "30" "2300" "-12" "2300" "-12" "c.2300-12T>C" "r.(=)" "p.(=)" "" "" "0000252214" "00025790" "30" "1557" "-9" "1557" "-9" "c.1557-9T>C" "r.(=)" "p.(=)" "" "" "0000252214" "00001012" "30" "1689" "-9" "1689" "-9" "c.1689-9T>C" "r.(=)" "p.(=)" "" "" "0000252459" "00025790" "90" "2254" "0" "2254" "0" "c.2254T>C" "r.(?)" "p.(Cys752Arg)" "" "" "0000252459" "00001012" "90" "2386" "0" "2386" "0" "c.2386T>C" "r.(?)" "p.(Cys796Arg)" "" "" "0000252976" "00025790" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000252976" "00001012" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000253014" "00025790" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000253014" "00001012" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000253361" "00025790" "10" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Ala372=)" "" "" "0000253361" "00001012" "10" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Ala372=)" "" "" "0000254009" "00025790" "30" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000254009" "00001012" "30" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000255830" "00025790" "50" "1930" "0" "1930" "0" "c.1930T>C" "r.(?)" "p.(Ser644Pro)" "" "" "0000255830" "00001012" "50" "2062" "0" "2062" "0" "c.2062T>C" "r.(?)" "p.(Ser688Pro)" "" "" "0000256269" "00025790" "50" "2126" "0" "2126" "0" "c.2126T>C" "r.(?)" "p.(Leu709Pro)" "" "" "0000256269" "00001012" "50" "2258" "0" "2258" "0" "c.2258T>C" "r.(?)" "p.(Leu753Pro)" "" "" "0000293788" "00025790" "10" "-7" "0" "-7" "0" "c.-7C>T" "r.(?)" "p.(=)" "" "" "0000293788" "00001012" "10" "-7" "0" "-7" "0" "c.-7C>T" "r.(?)" "p.(=)" "" "" "0000293789" "00025790" "10" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000293789" "00001012" "10" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000293790" "00025790" "10" "1034" "10" "1034" "10" "c.1034+10C>T" "r.(=)" "p.(=)" "" "" "0000293790" "00001012" "10" "1034" "10" "1034" "10" "c.1034+10C>T" "r.(=)" "p.(=)" "" "" "0000293791" "00025790" "10" "1034" "7" "1034" "7" "c.1034+7C>A" "r.(=)" "p.(=)" "" "" "0000293791" "00001012" "10" "1034" "7" "1034" "7" "c.1034+7C>A" "r.(=)" "p.(=)" "" "" "0000293792" "00025790" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Met365Val)" "" "" "0000293792" "00001012" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Met365Val)" "" "" "0000293793" "00025790" "10" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Gln378=)" "" "" "0000293793" "00001012" "10" "1134" "0" "1134" "0" "c.1134G>A" "r.(?)" "p.(Gln378=)" "" "" "0000293794" "00025790" "90" "1171" "-2" "1171" "-2" "c.1171-2A>G" "r.spl?" "p.?" "" "" "0000293794" "00001012" "90" "1171" "-2" "1171" "-2" "c.1171-2A>G" "r.spl?" "p.?" "" "" "0000293795" "00025790" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Cys)" "" "" "0000293795" "00001012" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.(Arg395Cys)" "" "" "0000293797" "00025790" "30" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Asp)" "" "" "0000293797" "00001012" "30" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Asp)" "" "" "0000293798" "00025790" "90" "1369" "0" "1372" "0" "c.1369_1372del" "r.(?)" "p.(Gln457Ter)" "" "" "0000293798" "00001012" "90" "1369" "0" "1372" "0" "c.1369_1372del" "r.(?)" "p.(Gln457Ter)" "" "" "0000293799" "00025790" "30" "1379" "-2109" "1379" "-2109" "c.1379-2109G>A" "r.(=)" "p.(=)" "" "" "0000293799" "00001012" "30" "1379" "-1" "1379" "-1" "c.1379-1G>A" "r.spl?" "p.?" "" "" "0000293800" "00025790" "10" "1379" "-2101" "1379" "-2101" "c.1379-2101A>G" "r.(=)" "p.(=)" "" "" "0000293800" "00001012" "10" "1386" "0" "1386" "0" "c.1386A>G" "r.(?)" "p.(Thr462=)" "" "" "0000293801" "00025790" "10" "1379" "-2062" "1379" "-2062" "c.1379-2062G>C" "r.(=)" "p.(=)" "" "" "0000293801" "00001012" "10" "1425" "0" "1425" "0" "c.1425G>C" "r.(?)" "p.(Val475=)" "" "" "0000293802" "00025790" "50" "1379" "-2033" "1379" "-2033" "c.1379-2033G>A" "r.(=)" "p.(=)" "" "" "0000293802" "00001012" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Gly485Glu)" "" "" "0000293803" "00025790" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50SerfsTer61)" "" "" "0000293803" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50SerfsTer61)" "" "" "0000293804" "00025790" "50" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Gly5Asp)" "" "" "0000293804" "00001012" "50" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Gly5Asp)" "" "" "0000293805" "00025790" "10" "1379" "-1967" "1379" "-1966" "c.1379-1967_1379-1966del" "r.(=)" "p.(=)" "" "" "0000293805" "00001012" "10" "1510" "10" "1510" "11" "c.1510+10_1510+11del" "r.(=)" "p.(=)" "" "" "0000293806" "00025790" "10" "1379" "-18" "1379" "-18" "c.1379-18A>G" "r.(=)" "p.(=)" "" "" "0000293806" "00001012" "10" "1511" "-18" "1511" "-18" "c.1511-18A>G" "r.(=)" "p.(=)" "" "" "0000293807" "00025790" "10" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(Lys52=)" "" "" "0000293807" "00001012" "10" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(Lys52=)" "" "" "0000293808" "00025790" "10" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Thr482Met)" "" "" "0000293808" "00001012" "10" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "" "" "0000293809" "00025790" "50" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asp507Gly)" "" "" "0000293809" "00001012" "50" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Asp551Gly)" "" "" "0000293810" "00025790" "10" "165" "0" "165" "0" "c.165G>T" "r.(?)" "p.(Arg55=)" "" "" "0000293810" "00001012" "10" "165" "0" "165" "0" "c.165G>T" "r.(?)" "p.(Arg55=)" "" "" "0000293811" "00025790" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(Asn513=)" "" "" "0000293811" "00001012" "10" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Asn557=)" "" "" "0000293812" "00025790" "50" "1555" "0" "1555" "0" "c.1555A>C" "r.(?)" "p.(Arg519=)" "" "" "0000293812" "00001012" "50" "1687" "0" "1687" "0" "c.1687A>C" "r.(?)" "p.(Arg563=)" "" "" "0000293814" "00025790" "10" "1557" "-8" "1557" "-8" "c.1557-8dup" "r.(=)" "p.(=)" "" "" "0000293814" "00001012" "10" "1689" "-8" "1689" "-8" "c.1689-8dup" "r.(=)" "p.(=)" "" "" "0000293815" "00025790" "50" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Gly537Glu)" "" "" "0000293815" "00001012" "50" "1742" "0" "1742" "0" "c.1742G>A" "r.(?)" "p.(Gly581Glu)" "" "" "0000293816" "00025790" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000293816" "00001012" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000293817" "00025790" "50" "1740" "0" "1740" "0" "c.1740G>T" "r.(?)" "p.(Glu580Asp)" "" "" "0000293817" "00001012" "50" "1872" "0" "1872" "0" "c.1872G>T" "r.(?)" "p.(Glu624Asp)" "" "" "0000293818" "00025790" "90" "1804" "0" "1804" "0" "c.1804G>T" "r.(?)" "p.(Gly602Ter)" "" "" "0000293818" "00001012" "90" "1936" "0" "1936" "0" "c.1936G>T" "r.(?)" "p.(Gly646Ter)" "" "" "0000293819" "00025790" "90" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Arg607Ter)" "" "" "0000293819" "00001012" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Ter)" "" "" "0000293820" "00025790" "10" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Ala65=)" "" "" "0000293820" "00001012" "10" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Ala65=)" "" "" "0000293821" "00025790" "10" "1938" "0" "1938" "0" "c.1938C>T" "r.(?)" "p.(Ile646=)" "" "" "0000293821" "00001012" "10" "2070" "0" "2070" "0" "c.2070C>T" "r.(?)" "p.(Ile690=)" "" "" "0000293822" "00025790" "30" "1955" "0" "1955" "0" "c.1955A>G" "r.(?)" "p.(Asn652Ser)" "" "" "0000293822" "00001012" "30" "2087" "0" "2087" "0" "c.2087A>G" "r.(?)" "p.(Asn696Ser)" "" "" "0000293823" "00025790" "30" "1963" "0" "1967" "0" "c.1963_1967del" "r.(?)" "p.(Gln655SerfsTer42)" "" "" "0000293823" "00001012" "30" "2095" "0" "2099" "0" "c.2095_2099del" "r.(?)" "p.(Gln699SerfsTer42)" "" "" "0000293824" "00025790" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000293824" "00001012" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000293825" "00025790" "10" "2001" "0" "2001" "0" "c.2001C>T" "r.(?)" "p.(Ala667=)" "" "" "0000293825" "00001012" "10" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Ala711=)" "" "" "0000293826" "00025790" "10" "2037" "0" "2037" "0" "c.2037A>G" "r.(?)" "p.(Thr679=)" "" "" "0000293826" "00001012" "10" "2169" "0" "2169" "0" "c.2169A>G" "r.(?)" "p.(Thr723=)" "" "" "0000293827" "00025790" "10" "2121" "0" "2121" "0" "c.2121G>A" "r.(?)" "p.(Ser707=)" "" "" "0000293827" "00001012" "10" "2253" "0" "2253" "0" "c.2253G>A" "r.(?)" "p.(Ser751=)" "" "" "0000293828" "00025790" "10" "2167" "7" "2167" "7" "c.2167+7C>T" "r.(=)" "p.(=)" "" "" "0000293828" "00001012" "10" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(=)" "p.(=)" "" "" "0000293831" "00025790" "10" "2168" "-14" "2168" "-11" "c.2168-14_2168-11del" "r.(=)" "p.(=)" "" "" "0000293831" "00001012" "10" "2300" "-14" "2300" "-11" "c.2300-14_2300-11del" "r.(=)" "p.(=)" "" "" "0000293832" "00025790" "10" "2168" "-21" "2168" "-17" "c.2168-21_2168-17del" "r.(=)" "p.(=)" "" "" "0000293832" "00001012" "10" "2300" "-21" "2300" "-17" "c.2300-21_2300-17del" "r.(=)" "p.(=)" "" "" "0000293833" "00025790" "10" "2168" "-21" "2168" "-19" "c.2168-21_2168-19del" "r.(=)" "p.(=)" "" "" "0000293833" "00001012" "10" "2300" "-21" "2300" "-19" "c.2300-21_2300-19del" "r.(=)" "p.(=)" "" "" "0000293834" "00025790" "10" "2168" "-21" "2168" "-21" "c.2168-21del" "r.(=)" "p.(=)" "" "" "0000293834" "00001012" "10" "2300" "-21" "2300" "-21" "c.2300-21del" "r.(=)" "p.(=)" "" "" "0000293835" "00025790" "50" "2200" "0" "2200" "0" "c.2200A>G" "r.(?)" "p.(Ile734Val)" "" "" "0000293835" "00001012" "50" "2332" "0" "2332" "0" "c.2332A>G" "r.(?)" "p.(Ile778Val)" "" "" "0000293836" "00025790" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000293836" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000293837" "00025790" "30" "2233" "0" "2233" "0" "c.2233A>G" "r.(?)" "p.(Ile745Val)" "" "" "0000293837" "00001012" "30" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Ile789Val)" "" "" "0000293838" "00025790" "30" "2299" "0" "2299" "0" "c.2299C>A" "r.(?)" "p.(Arg767Ser)" "" "" "0000293838" "00001012" "30" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "" "" "0000293839" "00025790" "10" "2353" "0" "2353" "0" "c.2353G>A" "r.(?)" "p.(Asp785Asn)" "" "" "0000293839" "00001012" "10" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "" "" "0000293840" "00025790" "10" "2357" "13" "2357" "14" "c.2357+13_2357+14insC" "r.(=)" "p.(=)" "" "" "0000293840" "00001012" "10" "2489" "13" "2489" "14" "c.2489+13_2489+14insC" "r.(=)" "p.(=)" "" "" "0000293841" "00025790" "90" "2357" "1" "2357" "1" "c.2357+1G>A" "r.spl?" "p.?" "" "" "0000293841" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl?" "p.?" "" "" "0000293842" "00025790" "10" "2391" "0" "2391" "0" "c.2391C>T" "r.(?)" "p.(Ser797=)" "" "" "0000293842" "00001012" "10" "2523" "0" "2523" "0" "c.2523C>T" "r.(?)" "p.(Ser841=)" "" "" "0000293843" "00025790" "50" "2438" "0" "2438" "0" "c.2438A>T" "r.(?)" "p.(Tyr813Phe)" "" "" "0000293843" "00001012" "50" "2570" "0" "2570" "0" "c.2570A>T" "r.(?)" "p.(Tyr857Phe)" "" "" "0000293844" "00025790" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000293844" "00001012" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000293845" "00025790" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Trp123Ter)" "" "" "0000293845" "00001012" "90" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Trp123Ter)" "" "" "0000293846" "00025790" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000293846" "00001012" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000293847" "00025790" "10" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000293847" "00001012" "10" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000293848" "00025790" "50" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Pro156Leu)" "" "" "0000293848" "00001012" "50" "467" "0" "467" "0" "c.467C>T" "r.(?)" "p.(Pro156Leu)" "" "" "0000293849" "00025790" "10" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000293849" "00001012" "10" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000293850" "00025790" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "" "0000293850" "00001012" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "" "0000293851" "00025790" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0000293851" "00001012" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0000293852" "00025790" "10" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000293852" "00001012" "10" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000293853" "00025790" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "" "" "0000293853" "00001012" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "" "" "0000293854" "00025790" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "" "0000293854" "00001012" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "" "0000293855" "00025790" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000293855" "00001012" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000293856" "00025790" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "" "0000293856" "00001012" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "" "0000293857" "00025790" "10" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Ala264Val)" "" "" "0000293857" "00001012" "10" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Ala264Val)" "" "" "0000293858" "00025790" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "" "0000293858" "00001012" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "" "0000293859" "00025790" "50" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "" "" "0000293859" "00001012" "50" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "" "" "0000293860" "00025790" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000293860" "00001012" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000293861" "00025790" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "" "0000293861" "00001012" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "" "0000293862" "00025790" "30" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Ala317Val)" "" "" "0000293862" "00001012" "30" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Ala317Val)" "" "" "0000293863" "00025790" "10" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Ala317=)" "" "" "0000293863" "00001012" "10" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Ala317=)" "" "" "0000293864" "00025790" "50" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Ala324Val)" "" "" "0000293864" "00001012" "50" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Ala324Val)" "" "" "0000297013" "00025790" "30" "1034" "10" "1034" "10" "c.1034+10C>T" "r.(=)" "p.(=)" "" "" "0000297013" "00001012" "30" "1034" "10" "1034" "10" "c.1034+10C>T" "r.(=)" "p.(=)" "" "" "0000297014" "00025790" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Met365Val)" "" "" "0000297014" "00001012" "50" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Met365Val)" "" "" "0000297015" "00025790" "30" "1171" "-17" "1171" "-17" "c.1171-17A>G" "r.(=)" "p.(=)" "" "" "0000297015" "00001012" "30" "1171" "-17" "1171" "-17" "c.1171-17A>G" "r.(=)" "p.(=)" "" "" "0000297016" "00025790" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Asn392=)" "" "" "0000297016" "00001012" "30" "1176" "0" "1176" "0" "c.1176C>T" "r.(?)" "p.(Asn392=)" "" "" "0000297017" "00025790" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000297017" "00001012" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000297019" "00025790" "50" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Lys430Glu)" "" "" "0000297019" "00001012" "50" "1288" "0" "1288" "0" "c.1288A>G" "r.(?)" "p.(Lys430Glu)" "" "" "0000297020" "00025790" "50" "1379" "-1990" "1379" "-1990" "c.1379-1990G>T" "r.(=)" "p.(=)" "" "" "0000297020" "00001012" "50" "1497" "0" "1497" "0" "c.1497G>T" "r.(?)" "p.(Gln499His)" "" "" "0000297021" "00025790" "50" "1441" "0" "1441" "0" "c.1441C>G" "r.(?)" "p.(Leu481Val)" "" "" "0000297021" "00001012" "50" "1573" "0" "1573" "0" "c.1573C>G" "r.(?)" "p.(Leu525Val)" "" "" "0000297022" "00025790" "50" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asp507Gly)" "" "" "0000297022" "00001012" "50" "1652" "0" "1652" "0" "c.1652A>G" "r.(?)" "p.(Asp551Gly)" "" "" "0000297023" "00025790" "90" "1716" "0" "1716" "0" "c.1716C>A" "r.(?)" "p.(Tyr572Ter)" "" "" "0000297023" "00001012" "90" "1848" "0" "1848" "0" "c.1848C>A" "r.(?)" "p.(Tyr616Ter)" "" "" "0000297024" "00025790" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000297024" "00001012" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000297025" "00025790" "90" "1819" "0" "1819" "0" "c.1819C>T" "r.(?)" "p.(Arg607Ter)" "" "" "0000297025" "00001012" "90" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Ter)" "" "" "0000297026" "00025790" "50" "1829" "0" "1829" "0" "c.1829A>G" "r.(?)" "p.(Lys610Arg)" "" "" "0000297026" "00001012" "50" "1961" "0" "1961" "0" "c.1961A>G" "r.(?)" "p.(Lys654Arg)" "" "" "0000297027" "00025790" "50" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Cys)" "" "" "0000297027" "00001012" "50" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "" "0000297028" "00025790" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000297028" "00001012" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000297029" "00025790" "30" "2001" "0" "2001" "0" "c.2001C>T" "r.(?)" "p.(Ala667=)" "" "" "0000297029" "00001012" "30" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Ala711=)" "" "" "0000297030" "00025790" "90" "2014" "-1" "2014" "-1" "c.2014-1G>C" "r.spl?" "p.?" "" "" "0000297030" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl?" "p.?" "" "" "0000297031" "00025790" "30" "2070" "0" "2070" "0" "c.2070C>G" "r.(?)" "p.(Thr690=)" "" "" "0000297031" "00001012" "30" "2202" "0" "2202" "0" "c.2202C>G" "r.(?)" "p.(Thr734=)" "" "" "0000297032" "00025790" "50" "2120" "0" "2120" "0" "c.2120C>G" "r.(?)" "p.(Ser707Trp)" "" "" "0000297032" "00001012" "50" "2252" "0" "2252" "0" "c.2252C>G" "r.(?)" "p.(Ser751Trp)" "" "" "0000297033" "00025790" "30" "2121" "0" "2121" "0" "c.2121G>A" "r.(?)" "p.(Ser707=)" "" "" "0000297033" "00001012" "30" "2253" "0" "2253" "0" "c.2253G>A" "r.(?)" "p.(Ser751=)" "" "" "0000297034" "00025790" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000297034" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000297035" "00025790" "30" "2233" "0" "2233" "0" "c.2233A>G" "r.(?)" "p.(Ile745Val)" "" "" "0000297035" "00001012" "30" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Ile789Val)" "" "" "0000297036" "00025790" "30" "2299" "0" "2299" "0" "c.2299C>A" "r.(?)" "p.(Arg767Ser)" "" "" "0000297036" "00001012" "30" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "" "" "0000297037" "00025790" "10" "2357" "13" "2357" "14" "c.2357+13_2357+14insC" "r.(=)" "p.(=)" "" "" "0000297037" "00001012" "10" "2489" "13" "2489" "14" "c.2489+13_2489+14insC" "r.(=)" "p.(=)" "" "" "0000297038" "00025790" "50" "2438" "0" "2438" "0" "c.2438A>T" "r.(?)" "p.(Tyr813Phe)" "" "" "0000297038" "00001012" "50" "2570" "0" "2570" "0" "c.2570A>T" "r.(?)" "p.(Tyr857Phe)" "" "" "0000297039" "00025790" "30" "2487" "0" "2487" "0" "c.2487C>T" "r.(?)" "p.(Ala829=)" "" "" "0000297039" "00001012" "30" "2619" "0" "2619" "0" "c.2619C>T" "r.(?)" "p.(Ala873=)" "" "" "0000297040" "00025790" "30" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000297040" "00001012" "30" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000297041" "00025790" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Thr15=)" "" "" "0000297041" "00001012" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Thr15=)" "" "" "0000297042" "00025790" "30" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Val200Met)" "" "" "0000297042" "00001012" "30" "598" "0" "598" "0" "c.598G>A" "r.(?)" "p.(Val200Met)" "" "" "0000297043" "00025790" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000297043" "00001012" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000297044" "00025790" "90" "917" "0" "918" "0" "c.917_918del" "r.(?)" "p.(Pro306GlnfsTer29)" "" "" "0000297044" "00001012" "90" "917" "0" "918" "0" "c.917_918del" "r.(?)" "p.(Pro306GlnfsTer29)" "" "" "0000297045" "00025790" "30" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Ala317=)" "" "" "0000297045" "00001012" "30" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Ala317=)" "" "" "0000297046" "00025790" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "" "0000297046" "00001012" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "" "0000300907" "00025790" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Ile)" "" "" "0000300907" "00001012" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Ile)" "" "" "0000300908" "00025790" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Gly460Ser)" "" "" "0000300908" "00001012" "90" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Asp460Asn)" "" "" "0000300909" "00025790" "30" "1379" "-2072" "1379" "-2072" "c.1379-2072C>T" "r.(=)" "p.(=)" "" "" "0000300909" "00001012" "30" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Pro472Leu)" "" "" "0000300910" "00025790" "50" "1379" "-1972" "1379" "-1972" "c.1379-1972G>A" "r.(=)" "p.(=)" "" "" "0000300910" "00001012" "50" "1510" "5" "1510" "5" "c.1510+5G>A" "r.spl?" "p.?" "" "" "0000300911" "00025790" "90" "1379" "-2" "1379" "-2" "c.1379-2A>G" "r.spl?" "p.?" "" "" "0000300911" "00001012" "90" "1511" "-2" "1511" "-2" "c.1511-2A>G" "r.spl?" "p.?" "" "" "0000300912" "00025790" "30" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Thr482Met)" "" "" "0000300912" "00001012" "30" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "" "" "0000300913" "00025790" "10" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(Asn513=)" "" "" "0000300913" "00001012" "10" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Asn557=)" "" "" "0000300915" "00025790" "50" "1696" "0" "1696" "0" "c.1696A>C" "r.(?)" "p.(Ile566Leu)" "" "" "0000300915" "00001012" "50" "1828" "0" "1828" "0" "c.1828A>C" "r.(?)" "p.(Ile610Leu)" "" "" "0000300916" "00025790" "90" "1716" "0" "1716" "0" "c.1716C>A" "r.(?)" "p.(Tyr572Ter)" "" "" "0000300916" "00001012" "90" "1848" "0" "1848" "0" "c.1848C>A" "r.(?)" "p.(Tyr616Ter)" "" "" "0000300917" "00025790" "30" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000300917" "00001012" "30" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000300918" "00025790" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Ala65=)" "" "" "0000300918" "00001012" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Ala65=)" "" "" "0000300919" "00025790" "90" "1902" "0" "1902" "0" "c.1902G>A" "r.(?)" "p.(Trp634Ter)" "" "" "0000300919" "00001012" "90" "2034" "0" "2034" "0" "c.2034G>A" "r.(?)" "p.(Trp678Ter)" "" "" "0000300920" "00025790" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000300920" "00001012" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000300921" "00025790" "10" "2013" "72" "2013" "72" "c.2013+72A>G" "r.(=)" "p.(=)" "" "" "0000300921" "00001012" "10" "2145" "72" "2145" "72" "c.2145+72A>G" "r.(=)" "p.(=)" "" "" "0000300922" "00025790" "90" "2014" "-1" "2014" "-1" "c.2014-1G>C" "r.spl?" "p.?" "" "" "0000300922" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl?" "p.?" "" "" "0000300923" "00025790" "10" "2167" "7" "2167" "7" "c.2167+7C>T" "r.(=)" "p.(=)" "" "" "0000300923" "00001012" "10" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(=)" "p.(=)" "" "" "0000300924" "00025790" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000300924" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000300925" "00025790" "30" "2299" "0" "2299" "0" "c.2299C>A" "r.(?)" "p.(Arg767Ser)" "" "" "0000300925" "00001012" "30" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "" "" "0000300926" "00025790" "10" "2357" "13" "2357" "14" "c.2357+13_2357+14insC" "r.(=)" "p.(=)" "" "" "0000300926" "00001012" "10" "2489" "13" "2489" "14" "c.2489+13_2489+14insC" "r.(=)" "p.(=)" "" "" "0000300927" "00025790" "90" "2357" "1" "2357" "1" "c.2357+1G>A" "r.spl?" "p.?" "" "" "0000300927" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl?" "p.?" "" "" "0000300928" "00025790" "90" "2357" "4" "2357" "4" "c.2357+4A>C" "r.spl?" "p.?" "" "" "0000300928" "00001012" "90" "2489" "4" "2489" "4" "c.2489+4A>C" "r.spl?" "p.?" "" "" "0000300929" "00025790" "90" "2412" "0" "2412" "0" "c.2412G>A" "r.(?)" "p.(Trp804Ter)" "" "" "0000300929" "00001012" "90" "2544" "0" "2544" "0" "c.2544G>A" "r.(?)" "p.(Trp848Ter)" "" "" "0000300930" "00025790" "50" "2455" "0" "2455" "0" "c.2455A>C" "r.(?)" "p.(Lys819Gln)" "" "" "0000300930" "00001012" "50" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Lys863Gln)" "" "" "0000300931" "00025790" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000300931" "00001012" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000300932" "00025790" "30" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000300932" "00001012" "30" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000300933" "00025790" "50" "473" "0" "473" "0" "c.473G>T" "r.(?)" "p.(Arg158Met)" "" "" "0000300933" "00001012" "50" "473" "0" "473" "0" "c.473G>T" "r.(?)" "p.(Arg158Met)" "" "" "0000300934" "00025790" "70" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Ser249Asn)" "" "" "0000300934" "00001012" "70" "746" "0" "746" "0" "c.746G>A" "r.(?)" "p.(Ser249Asn)" "" "" "0000300935" "00025790" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000300935" "00001012" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000300936" "00025790" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000300936" "00001012" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000305763" "00025790" "30" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000305763" "00001012" "30" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000305765" "00025790" "30" "1379" "-2071" "1379" "-2071" "c.1379-2071G>A" "r.(=)" "p.(=)" "" "" "0000305765" "00001012" "30" "1416" "0" "1416" "0" "c.1416G>A" "r.(?)" "p.(Pro472=)" "" "" "0000305766" "00025790" "30" "1379" "-18" "1379" "-18" "c.1379-18A>G" "r.(=)" "p.(=)" "" "" "0000305766" "00001012" "30" "1511" "-18" "1511" "-18" "c.1511-18A>G" "r.(=)" "p.(=)" "" "" "0000305767" "00025790" "30" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Thr482Met)" "" "" "0000305767" "00001012" "30" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "" "" "0000305768" "00025790" "30" "165" "0" "165" "0" "c.165G>T" "r.(?)" "p.(Arg55=)" "" "" "0000305768" "00001012" "30" "165" "0" "165" "0" "c.165G>T" "r.(?)" "p.(Arg55=)" "" "" "0000305769" "00025790" "30" "1539" "0" "1539" "0" "c.1539C>T" "r.(?)" "p.(Asn513=)" "" "" "0000305769" "00001012" "30" "1671" "0" "1671" "0" "c.1671C>T" "r.(?)" "p.(Asn557=)" "" "" "0000305771" "00025790" "50" "1616" "0" "1618" "0" "c.1616_1618delinsAAT" "r.(?)" "p.(Ile539_Asp540delinsLysTyr)" "" "" "0000305771" "00001012" "50" "1748" "0" "1750" "0" "c.1748_1750delinsAAT" "r.(?)" "p.(Ile583_Asp584delinsLysTyr)" "" "" "0000305772" "00025790" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000305772" "00001012" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000305773" "00025790" "30" "1948" "0" "1948" "0" "c.1948G>A" "r.(?)" "p.(Val650Ile)" "" "" "0000305773" "00001012" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Val694Ile)" "" "" "0000305774" "00025790" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000305774" "00001012" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000305775" "00025790" "50" "1989" "0" "1989" "0" "c.1989G>T" "r.(?)" "p.(Gln663His)" "" "" "0000305775" "00001012" "50" "2121" "0" "2121" "0" "c.2121G>T" "r.(?)" "p.(Gln707His)" "" "" "0000305776" "00025790" "90" "2014" "-1" "2014" "-1" "c.2014-1G>C" "r.spl?" "p.?" "" "" "0000305776" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl?" "p.?" "" "" "0000305777" "00025790" "30" "2121" "0" "2121" "0" "c.2121G>A" "r.(?)" "p.(Ser707=)" "" "" "0000305777" "00001012" "30" "2253" "0" "2253" "0" "c.2253G>A" "r.(?)" "p.(Ser751=)" "" "" "0000305778" "00025790" "10" "2167" "7" "2167" "7" "c.2167+7C>T" "r.(=)" "p.(=)" "" "" "0000305778" "00001012" "10" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(=)" "p.(=)" "" "" "0000305779" "00025790" "30" "2168" "-10" "2168" "-10" "c.2168-10C>A" "r.(=)" "p.(=)" "" "" "0000305779" "00001012" "30" "2300" "-10" "2300" "-10" "c.2300-10C>A" "r.(=)" "p.(=)" "" "" "0000305780" "00025790" "30" "2168" "-21" "2168" "-19" "c.2168-21_2168-19delinsTA" "r.(=)" "p.(=)" "" "" "0000305780" "00001012" "30" "2300" "-21" "2300" "-19" "c.2300-21_2300-19delinsTA" "r.(=)" "p.(=)" "" "" "0000305781" "00025790" "30" "2260" "0" "2260" "0" "c.2260A>G" "r.(?)" "p.(Thr754Ala)" "" "" "0000305781" "00001012" "30" "2392" "0" "2392" "0" "c.2392A>G" "r.(?)" "p.(Thr798Ala)" "" "" "0000305782" "00025790" "30" "2299" "0" "2299" "0" "c.2299C>A" "r.(?)" "p.(Arg767Ser)" "" "" "0000305782" "00001012" "30" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "" "" "0000305783" "00025790" "90" "2357" "1" "2357" "1" "c.2357+1G>A" "r.spl?" "p.?" "" "" "0000305783" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl?" "p.?" "" "" "0000305784" "00025790" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(?)" "p.(Lys819=)" "" "" "0000305784" "00001012" "30" "2589" "0" "2589" "0" "c.2589G>A" "r.(?)" "p.(Lys863=)" "" "" "0000305785" "00025790" "50" "259" "0" "259" "0" "c.259G>C" "r.(?)" "p.(Val87Leu)" "" "" "0000305785" "00001012" "50" "259" "0" "259" "0" "c.259G>C" "r.(?)" "p.(Val87Leu)" "" "" "0000305786" "00025790" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "" "0000305786" "00001012" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "" "0000305787" "00025790" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000305787" "00001012" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000305788" "00025790" "30" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000305788" "00001012" "30" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000305789" "00025790" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "" "" "0000305789" "00001012" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "" "" "0000305790" "00025790" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000305790" "00001012" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000305791" "00025790" "90" "663" "0" "663" "0" "c.663C>A" "r.(?)" "p.(Tyr221Ter)" "" "" "0000305791" "00001012" "90" "663" "0" "663" "0" "c.663C>A" "r.(?)" "p.(Tyr221Ter)" "" "" "0000305792" "00025790" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "" "" "0000305792" "00001012" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "" "" "0000305793" "00025790" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000305793" "00001012" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000305794" "00025790" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "" "0000305794" "00001012" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "" "0000305795" "00025790" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000305795" "00001012" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000305796" "00025790" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "" "0000305796" "00001012" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "" "0000305797" "00025790" "10" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Ala317=)" "" "" "0000305797" "00001012" "10" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(Ala317=)" "" "" "0000305798" "00025790" "50" "982" "0" "985" "0" "c.982_985delinsT" "r.(?)" "p.(Gly328_Ser329delinsCys)" "" "" "0000305798" "00001012" "50" "982" "0" "985" "0" "c.982_985delinsT" "r.(?)" "p.(Gly328_Ser329delinsCys)" "" "" "0000322747" "00025790" "30" "2299" "0" "2299" "0" "c.2299C>A" "r.(?)" "p.(Arg767Ser)" "" "" "0000322747" "00001012" "30" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "" "" "0000337785" "00025790" "90" "2014" "-1" "2014" "-1" "c.2014-1G>C" "r.spl?" "p.?" "" "" "0000337785" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl?" "p.?" "" "" "0000356898" "00001012" "90" "968" "0" "975" "0" "c.968_975del" "r.(?)" "p.(Gln323Argfs*10)" "3" "" "0000356901" "00001012" "90" "2423" "0" "2423" "0" "c.2423dup" "r.(?)" "p.(Asn809Glufs*18)" "12" "" "0000368343" "00001012" "50" "101" "0" "101" "0" "c.101C>A" "r.(?)" "p.(Ser34Tyr)" "1" "" "0000405542" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79*)" "2" "" "0000439062" "00001012" "50" "983" "0" "983" "0" "c.983G>T" "r.(?)" "p.Gly328Val" "" "" "0000441407" "00001012" "11" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(=)" "3" "N-terminus" "0000441408" "00001012" "11" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Thr)" "3" "N-terminus" "0000441409" "00001012" "11" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Ala264Val)" "3" "N-terminus" "0000441410" "00001012" "11" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(=)" "3" "N-terminus" "0000441411" "00001012" "11" "951" "0" "951" "0" "c.951G>A" "r.(?)" "p.(=)" "3" "N-terminus" "0000441412" "00001012" "11" "1127" "0" "1127" "0" "c.1127T>C" "r.(?)" "p.(Phe376Ser)" "4" "Armadillo 1" "0000441413" "00001012" "11" "1323" "0" "1323" "0" "c.1323G>T" "r.(?)" "p.(=)" "5" "Armadillo 3" "0000441414" "00001012" "11" "2145" "72" "2145" "72" "c.2145+72A>G" "r.(?)" "p.(=)" "10i" "" "0000441415" "00001012" "11" "2300" "-67" "2300" "-66" "c.2300-66_2300-67insA" "r.(?)" "p.(=)" "11i" "" "0000441416" "00001012" "11" "2300" "-21" "2300" "-21" "c.2300-21del" "r.(?)" "p.(=)" "11i" "" "0000441417" "00001012" "11" "2489" "72" "2489" "72" "c.2489+72G>A" "r.(?)" "p.(=)" "12i" "" "0000441418" "00001012" "11" "2490" "-56" "2490" "-56" "c.2490-56C>A" "r.(?)" "p.(=)" "12i" "" "0000441419" "00001012" "11" "1972" "-60" "1972" "-60" "c.1972-60G>A" "r.(?)" "p.(=)" "9i" "" "0000441999" "00001012" "30" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "7" "" "0000442053" "00001012" "55" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "1" "N-terminus" "0000442054" "00001012" "15" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "1" "N-terminus" "0000442055" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442056" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442057" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442058" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442059" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442060" "00001012" "11" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "1" "N-terminus" "0000442061" "00001012" "95" "176" "0" "176" "0" "c.176A>T" "r.(?)" "p.(Gln59Leu)" "1" "N-terminus" "0000442062" "00001012" "55" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "1" "N-terminus" "0000442063" "00001012" "55" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "1" "N-terminus" "0000442064" "00001012" "95" "1839" "0" "1839" "0" "c.1839C>G" "r.(?)" "p.(Asn613Lys)" "9" "Armadillo 4" "0000442065" "00001012" "55" "-5" "0" "-5" "0" "c.-5G>T" "r.(?)" "p.(=)" "1" "" "0000442066" "00001012" "99" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Gln19*)" "1" "N-terminus" "0000442067" "00001012" "75" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(=)" "1" "N-terminus" "0000442068" "00001012" "55" "165" "0" "165" "0" "c.165G>T" "r.(?)" "p.(=)" "1" "N-terminus" "0000442069" "00001012" "11" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "1" "N-terminus" "0000442070" "00001012" "99" "218" "0" "218" "0" "c.218dup" "r.(?)" "p.(Asn74Glnfs*12)" "1" "N-terminus" "0000442071" "00001012" "99" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79*)" "2" "N-terminus" "0000442072" "00001012" "99" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79*)" "2" "N-terminus" "0000442073" "00001012" "99" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79*)" "2" "N-terminus" "0000442074" "00001012" "99" "258" "0" "258" "0" "c.258T>G" "r.(?)" "p.(Tyr86*)" "2" "N-terminus" "0000442075" "00001012" "55" "307" "0" "307" "0" "c.307C>A" "r.(?)" "p.(Pro103Thr)" "2" "N-terminus" "0000442076" "00001012" "99" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Glu120*)" "3" "N-terminus" "0000442077" "00001012" "99" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133*)" "3" "N-terminus" "0000442078" "00001012" "95" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442079" "00001012" "95" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442080" "00001012" "95" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442081" "00001012" "95" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442082" "00001012" "95" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442083" "00001012" "15" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442084" "00001012" "99" "535" "0" "536" "0" "c.535_536insTC" "r.(?)" "p.(His179Leufs*12)" "3" "N-terminus" "0000442085" "00001012" "99" "663" "0" "663" "0" "c.663C>A" "r.(?)" "p.(Tyr221*)" "3" "N-terminus" "0000442086" "00001012" "11" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(=)" "3" "N-terminus" "0000442087" "00001012" "99" "917" "0" "918" "0" "c.917_918del" "r.(?)" "p.(Pro318Glnfs*29)" "3" "N-terminus" "0000442088" "00001012" "99" "951" "0" "983" "0" "c.951_983del" "r.(?)" "p.(His318Glnfs*24)" "3" "N-terminus" "0000442089" "00001012" "55" "1510" "5" "1510" "5" "c.1510+5G>A" "r.spl?" "p.?" "6i" "" "0000442090" "00001012" "55" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(=)" "3" "N-terminus" "0000442091" "00001012" "99" "971" "0" "980" "0" "c.971_980del" "r.(?)" "p.(Ala324Glyfs*25)" "3" "N-terminus" "0000442092" "00001012" "55" "982" "0" "982" "0" "c.982G>A" "r.(?)" "p.(Gly328Arg)" "3" "N-terminus" "0000442093" "00001012" "55" "983" "0" "983" "0" "c.983G>C" "r.(?)" "p.(Gly328Ala)" "3" "N-terminus" "0000442094" "00001012" "55" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "3" "N-terminus" "0000442095" "00001012" "11" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "4" "Armadillo 1" "0000442096" "00001012" "11" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "4" "Armadillo 1" "0000442097" "00001012" "99" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "4" "Armadillo 1" "0000442098" "00001012" "99" "1170" "1" "1170" "1" "c.1170+1G>C" "r.spl" "p.?" "4i" "Armadillo 2" "0000442099" "00001012" "11" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(?)" "p.(=)" "4i" "" "0000442100" "00001012" "99" "1171" "-2" "1171" "-2" "c.1171-2A>G" "r.spl" "p.?" "4i" "Armadillo 2" "0000442101" "00001012" "99" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406Serfs*4)" "5" "Armadillo 2" "0000442102" "00001012" "99" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413*)" "5" "Armadillo 2" "0000442103" "00001012" "99" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413*)" "5" "Armadillo 2" "0000442104" "00001012" "99" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413*)" "5" "Armadillo 2" "0000442105" "00001012" "95" "1271" "0" "1271" "0" "c.1271T>C" "r.(?)" "p.(Phe424Ser)" "5" "Armadillo 2" "0000442106" "00001012" "55" "1296" "0" "1296" "0" "c.1296G>A" "r.(?)" "p.(=)" "5" "Armadillo 3" "0000442107" "00001012" "99" "1368" "0" "1368" "0" "c.1368del" "r.(?)" "p.(Lys456Asnfs*3)" "5" "Armadillo 3" "0000442108" "00001012" "99" "1369" "0" "1372" "0" "c.1369_1372del" "r.(?)" "p.(Gln457*)" "5" "Armadillo 3" "0000442109" "00001012" "99" "1378" "1" "1378" "1" "c.1378+1G>A" "r.(?)" "p.(His461Serfs*4)" "5" "Armadillo 3" "0000442110" "00001012" "99" "1379" "-1" "1379" "-1" "c.1379-1G>A" "r.spl" "p.?" "5i" "Armadillo 3" "0000442111" "00001012" "11" "1510" "78" "1510" "78" "c.1510+78G>A" "r.(?)" "p.(=)" "6i" "" "0000442112" "00001012" "11" "1511" "-54" "1511" "-54" "c.1511-54G>A" "r.(?)" "p.(=)" "6i" "" "0000442113" "00001012" "11" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "7" "" "0000442114" "00001012" "55" "1592" "0" "1592" "0" "c.1592T>C" "r.(?)" "p.(Ile531Thr)" "7" "" "0000442115" "00001012" "11" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "7" "" "0000442116" "00001012" "99" "1597" "0" "1600" "0" "c.1597_1600del" "r.(?)" "p.(Ile533Profs*29)" "7" "" "0000442117" "00001012" "99" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Trp538*)" "7" "" "0000442118" "00001012" "99" "1630" "0" "1631" "0" "c.1630_1631insTT" "r.(?)" "p.(Pro544Leufs*20)" "7" "" "0000442119" "00001012" "55" "1641" "0" "1641" "0" "c.1641T>C" "r.(?)" "p.(=)" "7" "" "0000442120" "00001012" "99" "1643" "0" "1643" "0" "c.1643del" "r.(?)" "p.(Gly548Valfs*15)" "7" "" "0000442121" "00001012" "99" "1643" "0" "1643" "0" "c.1643del" "r.(?)" "p.(Gly548Valfs*15)" "7" "" "0000442122" "00001012" "11" "1688" "27" "1688" "27" "c.1688+27T>C" "r.(?)" "p.(=)" "7i" "" "0000442123" "00001012" "11" "1688" "29" "1688" "29" "c.1688+29G>A" "r.(?)" "p.(=)" "7i" "" "0000442124" "00001012" "11" "1689" "-8" "1689" "-7" "c.1689-7_1689-8insT" "r.(?)" "p.(=)" "7i" "" "0000442125" "00001012" "99" "1709" "0" "1709" "0" "c.1709del" "r.(?)" "p.(Ala570Valfs*7)" "8" "Armadillo 4" "0000442126" "00001012" "99" "1725" "0" "1728" "0" "c.1725_1728dup" "r.(?)" "p.(Arg577Aspfs*5)" "8" "Armadillo 4" "0000442127" "00001012" "99" "1755" "0" "1756" "0" "c.1755_1756ins8" "r.(?)" "p.(Val587Thrfs*72)" "8" "Armadillo 4" "0000442128" "00001012" "95" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "8" "Armadillo 4" "0000442129" "00001012" "95" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "8" "Armadillo 4" "0000442130" "00001012" "55" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(=)" "9" "Armadillo 4" "0000442131" "00001012" "95" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "9" "Armadillo 4" "0000442132" "00001012" "95" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "9" "Armadillo 4" "0000442133" "00001012" "99" "1848" "0" "1848" "0" "c.1848C>A" "r.(?)" "p.(Tyr616*)" "9" "" "0000442134" "00001012" "95" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Arg635Trp)" "9" "" "0000442135" "00001012" "99" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638*)" "9" "" "0000442136" "00001012" "99" "1912" "0" "1912" "0" "c.1912C>T" "r.(?)" "p.(Gln638*)" "9" "" "0000442137" "00001012" "99" "1948" "0" "1948" "0" "c.1948del" "r.(?)" "p.(Ser650Valfs*6)" "9" "" "0000442138" "00001012" "99" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651*)" "9" "" "0000442139" "00001012" "95" "1960" "0" "1960" "0" "c.1960A>C" "r.(?)" "p.(Lys654Gln)" "9" "" "0000442140" "00001012" "95" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "4" "Armadillo 2" "0000442141" "00001012" "99" "2013" "0" "2013" "0" "c.2013del" "r.(?)" "p.(Lys672Argfs*12)" "10" "Armadillo 5" "0000442142" "00001012" "99" "2028" "0" "2028" "0" "c.2028G>A" "r.(?)" "p.(Trp676*)" "10" "Armadillo 5" "0000442143" "00001012" "95" "2062" "0" "2062" "0" "c.2062T>C" "r.(?)" "p.(Ser688Pro)" "10" "Armadillo 5" "0000442144" "00001012" "99" "2076" "0" "2077" "0" "c.2076_2077del" "r.(?)" "p.(Ser693Cysfs*49)" "10" "Armadillo 5" "0000442145" "00001012" "99" "2087" "0" "2087" "0" "c.2087dup" "r.(?)" "p.(Tyr697Ilefs*46)" "10" "Armadillo 5" "0000442146" "00001012" "99" "2095" "0" "2095" "0" "c.2095C>T" "r.(?)" "p.(Gln699*)" "10" "Armadillo 5" "0000442147" "00001012" "99" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Gln707*)" "10" "Armadillo 5" "0000442148" "00001012" "11" "2145" "45" "2145" "45" "c.2145+45G>A" "r.(?)" "p.(=)" "10i" "" "0000442149" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442150" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442151" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442152" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442153" "00001012" "95" "2166" "0" "2166" "0" "c.2166G>Y" "r.(?)" "p.(Gln722His)" "11" "Armadillo 6" "0000442154" "00001012" "99" "2176" "0" "2176" "0" "c.2176C>T" "r.(?)" "p.(Gln726*)" "11" "Armadillo 6" "0000442155" "00001012" "99" "2196" "0" "2197" "0" "c.2196_2197ins28" "r.(?)" "p.(His732Alafs*9)" "11" "Armadillo 6" "0000442156" "00001012" "99" "2197" "0" "2202" "0" "c.2197_2202delinsG" "r.(?)" "p.(His733Alafs*8)" "11" "Armadillo 6" "0000442157" "00001012" "99" "2197" "0" "2202" "0" "c.2197_2202delinsG" "r.(?)" "p.(His733Alafs*8)" "11" "Armadillo 6" "0000442158" "00001012" "99" "2197" "0" "2202" "0" "c.2197_2202delinsG" "r.(?)" "p.(His733Alafs*8)" "11" "Armadillo 6" "0000442159" "00001012" "95" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "4" "Armadillo 2" "0000442160" "00001012" "99" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735*)" "11" "Armadillo 6" "0000442161" "00001012" "55" "2253" "0" "2253" "0" "c.2253G>A" "r.(?)" "p.(=)" "11" "Armadillo 6" "0000442162" "00001012" "55" "2292" "0" "2292" "0" "c.2292G>A" "r.(?)" "p.(=)" "11" "Armadillo 7" "0000442163" "00001012" "11" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(?)" "p.(=)" "11i" "" "0000442164" "00001012" "95" "2386" "0" "2386" "0" "c.2386T>C" "r.(?)" "p.(Cys796Arg)" "12" "Armadillo 7" "0000442165" "00001012" "95" "2386" "0" "2386" "0" "c.2386T>C" "r.(?)" "p.(Cys796Arg)" "12" "Armadillo 7" "0000442166" "00001012" "99" "2393" "0" "2401" "0" "c.2393_2401del" "r.(?)" "p.(Thr798_Asn800del)" "12" "Armadillo 7" "0000442167" "00001012" "55" "2393" "0" "2393" "0" "c.2393C>G" "r.(?)" "p.(Thr798Arg)" "12" "Armadillo 7" "0000442168" "00001012" "99" "2421" "0" "2421" "0" "c.2421C>A" "r.(?)" "p.(Tyr807*)" "12" "Armadillo 8" "0000442169" "00001012" "99" "2421" "0" "2421" "0" "c.2421C>A" "r.(?)" "p.(Tyr807*)" "12" "Armadillo 8" "0000442170" "00001012" "99" "2426" "0" "2426" "0" "c.2426dup" "r.(?)" "p.(Asn809Lysfs*18)" "12" "Armadillo 8" "0000442171" "00001012" "99" "2426" "0" "2426" "0" "c.2426dup" "r.(?)" "p.(Asn809Lysfs*18)" "12" "Armadillo 8" "0000442172" "00001012" "99" "2484" "0" "2484" "0" "c.2484C>T" "r.2483_2489del" "p.(Gly828=)" "12" "Armadillo 8" "0000442173" "00001012" "55" "2487" "0" "2487" "0" "c.2487T>C" "r.(?)" "p.(=)" "12" "Armadillo 8" "0000442174" "00001012" "99" "2489" "4" "2489" "4" "c.2489+4C>A" "r.spl?" "p.?" "12i" "Armadillo 8" "0000442175" "00001012" "99" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "12i" "Armadillo 8" "0000442176" "00001012" "99" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "12i" "Armadillo 8" "0000442177" "00001012" "99" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "12i" "Armadillo 8" "0000442178" "00001012" "99" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "12i" "Armadillo 8" "0000442179" "00001012" "11" "2489" "13" "2489" "14" "c.2489+13_2489+14insC" "r.(?)" "p.(=)" "12i" "" "0000442180" "00001012" "99" "2490" "-1" "2490" "-1" "c.2490-1G>C" "r.spl" "p.?" "12i" "Armadillo 8" "0000442181" "00001012" "99" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "Armadillo 8" "0000442182" "00001012" "99" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "Armadillo 8" "0000442183" "00001012" "99" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "Armadillo 8" "0000442184" "00001012" "99" "2544" "0" "2544" "0" "c.2544G>A" "r.(?)" "p.(Trp848*)" "13" "Armadillo 8" "0000442185" "00001012" "99" "2569" "0" "3018" "0" "c.2569_3018del" "r.(?)" "p.(Tyr857Argfs*2)" "13" "C-terminus" "0000442186" "00001012" "11" "2577" "70" "2577" "70" "c.2577+70C>A" "r.(?)" "p.(=)" "13i" "" "0000442187" "00001012" "11" "2578" "-69" "2578" "-69" "c.2578-69G>A" "r.(?)" "p.(=)" "13i" "" "0000442188" "00001012" "11" "2578" "-60" "2578" "-60" "c.2578-60C>A" "r.(?)" "p.(=)" "13i" "" "0000442189" "00001012" "99" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133*)" "3" "N-terminus" "0000442190" "00001012" "55" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Thr872Ile)" "14" "C-terminus" "0000442191" "00001012" "55" "2631" "0" "2631" "0" "c.2631C>A" "r.(?)" "p.(His877Gln)" "14" "C-terminus" "0000442192" "00001012" "11" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "1" "N-terminus" "0000442193" "00001012" "11" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "4" "Armadillo 1" "0000442194" "00001012" "11" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "7" "" "0000442195" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442196" "00001012" "99" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "Armadillo 8" "0000442197" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442198" "00001012" "75" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(=)" "1" "N-terminus" "0000442199" "00001012" "71" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "4" "Armadillo 1" "0000442200" "00001012" "75" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(=)" "2" "N-terminus" "0000442201" "00001012" "99" "2146" "-1" "2146" "0" "c.2146-1_2146del" "r.spl" "p.?" "10i_11" "" "0000442202" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442203" "00001012" "99" "2484" "0" "2484" "0" "c.2484C>T" "r.2483_2489del" "p.(Gly828=)" "12" "Armadillo 8" "0000442204" "00001012" "95" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Lys)" "3" "N-terminus" "0000442205" "00001012" "99" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Gln211*)" "3" "N-terminus" "0000442206" "00001012" "95" "1256" "0" "1256" "0" "c.1256T>C" "r.(?)" "p.(Leu419Ser)" "5" "Armadillo 2" "0000442207" "00001012" "95" "2378" "0" "2378" "0" "c.2378C>A" "r.(?)" "p.(Ala793Asp)" "12" "Armadillo 7" "0000442208" "00001012" "99" "2554" "0" "2554" "0" "c.2554del" "r.(?)" "p.(Glu852Asnfs*79)" "13" "Armadillo 8" "0000442209" "00001012" "99" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Glu380*)" "4" "Armadillo 1" "0000442210" "00001012" "99" "2145" "3" "2145" "3" "c.2145+3G>T" "r.spl?" "p.?" "10i" "" "0000442211" "00001012" "51" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "1" "N-terminus" "0000442212" "00001012" "99" "184" "0" "185" "0" "c.184_185del" "r.(?)" "p.(Gln62Aspfs*23)" "1" "N-terminus" "0000442213" "00001012" "55" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Ans76Ser)" "2" "N-terminus" "0000442214" "00001012" "75" "336" "0" "336" "0" "c.336G>Y" "r.(?)" "p.(Lys112Asn)" "2" "N-terminus" "0000442215" "00001012" "99" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133*)" "3" "N-terminus" "0000442216" "00001012" "95" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442217" "00001012" "95" "625" "0" "625" "0" "c.625C>G" "r.(?)" "p.(Ser209Arg)" "3" "N-terminus" "0000442218" "00001012" "99" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Gln211*)" "3" "N-terminus" "0000442219" "00001012" "99" "1643" "0" "1643" "0" "c.1643del" "r.(?)" "p.(Gly548Valfs*15)" "7" "" "0000442220" "00001012" "99" "2013" "0" "2013" "0" "c.2013del" "r.(?)" "p.(Lys672Argfs*12)" "10" "Armadillo 5" "0000442221" "00001012" "75" "2333" "0" "2333" "0" "c.2333T>C" "r.(?)" "p.(Ile778Thr)" "12" "Armadillo 7" "0000442222" "00001012" "99" "2447" "0" "2448" "0" "c.2447_2448del" "r.(?)" "p.(Thr816Argfs*10)" "12" "Armadillo 8" "0000442223" "00001012" "99" "217" "0" "218" "0" "c.217_218dup" "r.(?)" "p.(Asn74Alafs*39)" "1" "N-terminus" "0000442224" "00001012" "11" "584" "0" "584" "0" "c.584C>T" "r.(?)" "p.(Ala195Val)" "3" "N-terminus" "0000442225" "00001012" "11" "826" "0" "826" "0" "c.826C>T" "r.(?)" "p.(Pro276Ser)" "3" "N-terminus" "0000442226" "00001012" "99" "1307" "0" "1315" "0" "c.1307_1315delins8" "r.(?)" "p.(Leu436Hisfs*11)" "5" "Armadillo 3" "0000442227" "00001012" "95" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "8" "Armadillo 4" "0000442228" "00001012" "99" "2145" "1" "2145" "1" "c.2145+1G>C" "r.spl" "p.?" "10i" "" "0000442229" "00001012" "95" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Leu787Phe)" "12" "Armadillo 7" "0000442230" "00001012" "99" "2489" "1" "2489" "1" "c.2489+1G>T" "r.spl" "p.?" "12i" "Armadillo 8" "0000442231" "00001012" "55" "2488" "0" "2488" "0" "c.2488G>C" "r.psl?" "p.(Ala830Pro)" "12" "Armadillo 8" "0000442232" "00001012" "99" "2009" "0" "2009" "0" "c.2009del" "r.(?)" "p.(Asn670Thrfs*14)" "10" "Armadillo 5" "0000442233" "00001012" "99" "771" "0" "771" "0" "c.771del" "r.(?)" "p.(Lys258Argfs*5?)" "3" "N-terminus" "0000442234" "00001012" "99" "0" "0" "0" "0" "c.954_(delins)?" "r.(?)" "p.(His318Trpfs*10?)" "3" "N-terminus" "0000442235" "00001012" "99" "1704" "0" "1704" "0" "c.1704del" "r.(?)" "p.(Gly569Alafs*8)" "8" "" "0000442236" "00001012" "55" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "3" "N-terminus" "0000442237" "00001012" "55" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "6" "" "0000442238" "00001012" "55" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "7" "" "0000442239" "00001012" "95" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "1" "N-terminus" "0000442240" "00001012" "95" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Glu137Lys)" "3" "N-terminus" "0000442241" "00001012" "95" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "3" "N-terminus" "0000442242" "00001012" "55" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Trp538*)" "7" "" "0000442243" "00001012" "99" "1689" "-1" "1689" "-1" "c.1689-1G>C" "r.(?)" "p.(=)" "7i" "" "0000442244" "00001012" "95" "1892" "0" "1892" "0" "c.1892A>G" "r.(?)" "p.(Tyr631Cys)" "9" "" "0000442245" "00001012" "99" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "Armadillo 8" "0000442246" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442247" "00001012" "11" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "4" "Armadillo 1" "0000442248" "00001012" "95" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Gly489Arg)" "6" "" "0000442249" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442250" "00001012" "11" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(?)" "p.(=)" "11i" "" "0000442251" "00001012" "99" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "Armadillo 8" "0000442252" "00001012" "95" "2540" "0" "2540" "0" "c.2540T>C" "r.(?)" "p.(Leu847Pro)" "13" "Armadillo 8" "0000442253" "00001012" "11" "2578" "-69" "2578" "-69" "c.2578-69G>A" "r.(?)" "p.(=)" "13i" "" "0000442254" "00001012" "99" "982" "0" "983" "0" "c.982_983dup" "r.(?)" "p.(Ser329Glufs*24)" "3" "N-terminus" "0000442255" "00001012" "99" "1202" "0" "1209" "0" "c.1202_1209del" "r.(?)" "p.(Leu401Profs*6)" "5" "Armadillo 2" "0000442256" "00001012" "75" "2018" "0" "2018" "0" "c.2018G>T" "r.(?)" "p.(Gly673Val)" "10" "Armadillo 5" "0000442257" "00001012" "99" "2146" "-2" "2146" "-2" "c.2146-2A>T" "r.spl" "p.?" "10i" "" "0000442258" "00001012" "55" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "1" "N-terminus" "0000442259" "00001012" "55" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "3" "N-terminus" "0000442260" "00001012" "55" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "1" "N-terminus" "0000442261" "00001012" "99" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79*)" "2" "N-terminus" "0000442262" "00001012" "55" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442263" "00001012" "75" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Gly489Arg)" "6" "" "0000442264" "00001012" "55" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "8" "Armadillo 4" "0000442265" "00001012" "95" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "4" "Armadillo 2" "0000442266" "00001012" "99" "1978" "0" "1978" "0" "c.1978C>T" "r.(?)" "p.(Gln660*)" "10" "" "0000442267" "00001012" "55" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(=)" "1" "N-terminus" "0000442268" "00001012" "55" "-22" "0" "-22" "0" "c.-22C>G" "r.(?)" "p.(=)" "1" "" "0000442269" "00001012" "55" "1" "-1" "542" "1" "c.1-?_542+?del" "r.0" "p.0" "1i" "" "0000442270" "00001012" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_14_" "" "0000442271" "00001012" "95" "224" "-1" "4324" "0" "c.(223+1_224-1)_(*1678_?)del" "r.(?)" "p.(=)" "1i_14_" "" "0000442272" "00001012" "55" "84" "0" "84" "0" "c.84del" "r.(?)" "p.(Ser29Alafs*10)" "1" "" "0000442273" "00001012" "55" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Gln59*)" "1" "" "0000442274" "00001012" "55" "190" "0" "190" "0" "c.190dup" "r.(?)" "p.(Leu64Profs*22)" "1" "" "0000442275" "00001012" "55" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Ala65=)" "1" "" "0000442276" "00001012" "55" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Ala65Ser)" "1" "" "0000442277" "00001012" "55" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Val72Leu)" "1" "" "0000442278" "00001012" "55" "223" "1" "223" "1" "c.223+1G>A" "r.spl" "p.?" "1i" "" "0000442279" "00001012" "55" "224" "-3" "224" "-3" "c.224-3C>G" "r.spl?" "p.?" "1i" "" "0000442280" "00001012" "55" "253" "0" "256" "0" "c.253_256del" "r.(?)" "p.(Glu85Metfs*26)" "2" "" "0000442281" "00001012" "55" "259" "0" "259" "0" "c.259G>C" "r.(?)" "p.(Val87Leu)" "2" "" "0000442282" "00001012" "55" "275" "0" "275" "0" "c.275T>A" "r.(?)" "p.(Leu92*)" "2" "" "0000442283" "00001012" "55" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "2" "" "0000442284" "00001012" "55" "336" "1" "336" "1" "c.336+1G>A" "r.spl" "p.?" "2i" "" "0000442285" "00001012" "55" "368" "0" "368" "0" "c.368G>A" "r.(?)" "p.(Trp123*)" "3" "" "0000442286" "00001012" "55" "418" "0" "418" "0" "c.418T>A" "r.(?)" "p.(Ser140Thr)" "3" "" "0000442287" "00001012" "55" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(His143Tyr)" "3" "" "0000442288" "00001012" "55" "433" "0" "434" "0" "c.433_434del" "r.(?)" "p.(Leu145Glufs*8)" "3" "" "0000442289" "00001012" "55" "456" "0" "456" "0" "c.456del" "r.(?)" "p.(Asp153Thrfs*37)" "3" "" "0000442290" "00001012" "55" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Ser154Arg)" "3" "" "0000442291" "00001012" "55" "492" "0" "492" "0" "c.492C>A" "r.(?)" "p.(Ser164Arg)" "3" "" "0000442292" "00001012" "55" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Tyr166*)" "3" "" "0000442293" "00001012" "55" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Gln170*)" "3" "" "0000442294" "00001012" "55" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Ser172Arg)" "3" "" "0000442295" "00001012" "55" "548" "0" "548" "0" "c.548G>A" "r.(?)" "p.(Ser183Asn)" "3" "" "0000442296" "00001012" "55" "568" "0" "568" "0" "c.568del" "r.(?)" "p.(Val190Cysfs*73)" "3" "" "0000442297" "00001012" "55" "576" "0" "576" "0" "c.576G>A" "r.(?)" "p.(Pro192=)" "3" "" "0000442298" "00001012" "55" "587" "0" "587" "0" "c.587dup" "r.(?)" "p.(Ser197Phefs*19)" "3" "" "0000442299" "00001012" "55" "648" "0" "651" "0" "c.648_651del" "r.(?)" "p.(Tyr217Thrfs*45)" "3" "" "0000442300" "00001012" "55" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Gln220*)" "3" "" "0000442301" "00001012" "55" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "3" "" "0000442302" "00001012" "55" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "3" "" "0000442303" "00001012" "55" "729" "0" "729" "0" "c.729C>G" "r.(?)" "p.(Tyr243*)" "3" "" "0000442304" "00001012" "55" "746" "0" "746" "0" "c.746G>C" "r.(?)" "p.(Ser249Thr)" "3" "" "0000442305" "00001012" "55" "759" "0" "759" "0" "c.759C>T" "r.(?)" "p.(Gly253=)" "3" "" "0000442306" "00001012" "55" "775" "0" "775" "0" "c.775G>T" "r.(?)" "p.(Glu259*)" "3" "" "0000442307" "00001012" "55" "801" "0" "801" "0" "c.801del" "r.(?)" "p.(Thr268Serfs*34)" "3" "" "0000442308" "00001012" "55" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Arg)" "3" "" "0000442309" "00001012" "55" "841" "0" "841" "0" "c.841del" "r.(?)" "p.(Thr281Leufs*21)" "3" "" "0000442310" "00001012" "55" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Trp290*)" "3" "" "0000442311" "00001012" "55" "888" "0" "888" "0" "c.888C>T" "r.(?)" "p.(His296=)" "3" "" "0000442312" "00001012" "55" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "3" "" "0000442313" "00001012" "55" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Val310Met)" "3" "" "0000442314" "00001012" "55" "953" "0" "953" "0" "c.953A>C" "r.(?)" "p.(His318Pro)" "3" "" "0000442315" "00001012" "55" "971" "0" "972" "0" "c.971_972insT" "r.(?)" "p.(Ala325Glyfs*11)" "3" "" "0000442316" "00001012" "55" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "3" "" "0000442317" "00001012" "55" "987" "0" "987" "0" "c.987del" "r.(?)" "p.(Ser329Argfs*23)" "3" "" "0000442318" "00001012" "55" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Phe339Ser)" "3" "" "0000442319" "00001012" "55" "1029" "0" "1029" "0" "c.1029G>Y" "r.(?)" "p.(Gln343His)" "3" "" "0000442320" "00001012" "55" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "4" "" "0000442321" "00001012" "55" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Met365Val)" "4" "" "0000442322" "00001012" "55" "1116" "0" "1116" "0" "c.1116T>C" "r.(?)" "p.(Ala372=)" "4" "" "0000442323" "00001012" "55" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Cys381Tyr)" "4" "" "0000442324" "00001012" "55" "1170" "1" "1170" "1" "c.1170+1G>A" "r.spl" "p.?" "4i" "" "0000442325" "00001012" "55" "1904" "0" "1904" "0" "c.1904G>A" "r.(?)" "p.(Arg635Gln)" "4" "" "0000442326" "00001012" "55" "1171" "-1" "1171" "-1" "c.1171-1G>A" "r.spl" "p.?" "4i" "" "0000442327" "00001012" "55" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Gln393*)" "5" "" "0000442328" "00001012" "55" "1205" "0" "1205" "0" "c.1205del" "r.(?)" "p.(Gln402Argfs*3)" "5" "" "0000442329" "00001012" "55" "1231" "0" "1231" "0" "c.1231dup" "r.(?)" "p.(Val411Glyfs*15)" "5" "" "0000442330" "00001012" "55" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Val411Ile)" "5" "" "0000442331" "00001012" "55" "1265" "0" "1266" "0" "c.1265_1266del" "r.(?)" "p.(Lys422Serfs*2)" "5" "" "0000442332" "00001012" "55" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "5" "" "0000442333" "00001012" "55" "1375" "0" "1375" "0" "c.1375del" "r.(?)" "p.(Thr459Glnfs*7)" "5" "" "0000442334" "00001012" "55" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Asp460Asn)" "5" "" "0000442335" "00001012" "55" "1378" "1" "1378" "1" "c.1378+1G>C" "r.spl" "p.?" "5i" "" "0000442336" "00001012" "55" "1379" "-22" "1379" "-22" "c.1379-22G>A" "r.(?)" "p.(=)" "5i" "" "0000442337" "00001012" "55" "1421" "0" "1421" "0" "c.1421C>T" "r.(?)" "p.(Ala474Val)" "6" "" "0000442338" "00001012" "55" "1422" "0" "1422" "0" "c.1422G>A" "r.(?)" "p.(Ala474=)" "6" "" "0000442339" "00001012" "55" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Ala474Thr)" "6" "" "0000442340" "00001012" "55" "1440" "0" "1444" "0" "c.1440_1444del" "r.(?)" "p.(Asn480LysfsTer20)" "6" "" "0000442341" "00001012" "55" "1511" "-2" "1511" "-2" "c.1511-2A>G" "r.spl" "p.?" "6i" "" "0000442342" "00001012" "55" "1517" "0" "1517" "0" "c.1517T>C" "r.(?)" "p.(Lys506Pro)" "7" "" "0000442343" "00001012" "55" "1669" "0" "1671" "0" "c.1669_1671del" "r.(?)" "p.(Asn513del)" "7" "" "0000442344" "00001012" "55" "1576" "0" "1576" "0" "c.1576A>G" "r.(?)" "p.(Thr526Ala)" "7" "" "0000442345" "00001012" "55" "1580" "0" "1580" "0" "c.1580T>C" "r.(?)" "p.(Leu527Pro)" "7" "" "0000442346" "00001012" "55" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Ile533Serfs*30)" "7" "" "0000442347" "00001012" "55" "1618" "0" "1618" "0" "c.1618G>A" "r.(?)" "p.(Glu540Lys)" "7" "" "0000442348" "00001012" "55" "1636" "0" "1636" "0" "c.1636G>A" "r.(?)" "p.(ala546Thr)" "7" "" "0000442349" "00001012" "55" "1648" "0" "1657" "0" "c.1648_1657del" "r.(?)" "p.(Leu550Thrfs*10)" "7" "" "0000442350" "00001012" "55" "1688" "1" "1688" "1" "c.1688+1G>A" "r.spl" "p.?" "7i" "" "0000442351" "00001012" "55" "1689" "-1" "1806" "1" "c.1689-?_1806+?del" "r.(?)" "p.(=)" "7i" "" "0000442352" "00001012" "55" "1694" "0" "1694" "0" "c.1694T>G" "r.(?)" "p.(Met565Arg)" "8" "" "0000442353" "00001012" "55" "1742" "0" "1742" "0" "c.1742G>A" "r.(?)" "p.(Gly581Glu)" "8" "" "0000442354" "00001012" "55" "1749" "0" "1749" "0" "c.1749T>G" "r.(?)" "p.(Ile583Met)" "8" "" "0000442355" "00001012" "55" "1759" "0" "1759" "0" "c.1759del" "r.(?)" "p.(Val587Serfs*655)" "8" "" "0000442356" "00001012" "55" "1799" "0" "1799" "0" "c.1799del" "r.(?)" "p.(Asp600Valfs*56)" "8" "" "0000442357" "00001012" "55" "1803" "0" "1803" "0" "c.1803del" "r.(?)" "p.(D601Efs*655)" "8" "" "0000442358" "00001012" "55" "1832" "0" "1832" "0" "c.1832T>G" "r.(?)" "p.(Leu611Arg)" "9" "" "0000442359" "00001012" "55" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "Leu614Pro" "9" "" "0000442360" "00001012" "55" "1843" "0" "1843" "0" "c.1843T>A" "r.(?)" "p.(Ser615Thr)" "9" "" "0000442361" "00001012" "55" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Ile630Thr)" "9" "" "0000442362" "00001012" "55" "1926" "0" "1928" "0" "c.1926_1928del" "r.(?)" "p.(Asn642del)" "9" "" "0000442363" "00001012" "55" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Pro665Ser)" "10" "" "0000442364" "00001012" "55" "1994" "0" "1994" "0" "c.1994C>G" "r.(?)" "p.(Pro665Arg)" "10" "" "0000442365" "00001012" "55" "2034" "0" "2034" "0" "c.2034G>A" "r.(?)" "p.(Trp678*)" "10" "" "0000442366" "00001012" "55" "2058" "0" "2058" "0" "c.2058T>G" "r.(?)" "p.(Tyr686*)" "10" "" "0000442367" "00001012" "55" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "10" "" "0000442368" "00001012" "55" "2146" "-1" "4324" "0" "c.(2145+1_2146-1)_(*1678_?)dup" "r.(?)" "p.(=)" "10i_14_" "" "0000442369" "00001012" "55" "2150" "0" "2150" "0" "c.2150C>T" "r.(?)" "p.(Pro717Leu)" "11" "" "0000442370" "00001012" "55" "2174" "0" "2174" "0" "c.2174T>A" "r.(?)" "p.(Val725Asp)" "11" "" "0000442371" "00001012" "55" "2179" "0" "2179" "0" "c.2179A>T" "r.(?)" "p.(Lys727*)" "11" "" "0000442372" "00001012" "55" "2216" "0" "2217" "0" "c.2216_2217del" "r.(?)" "p.(His739Argfs*3)" "11" "" "0000442373" "00001012" "55" "2240" "0" "2240" "0" "c.2240del" "r.(?)" "p.(Lys747Argfs*7)" "11" "" "0000442374" "00001012" "55" "2258" "0" "2258" "0" "c.2258T>A" "r.(?)" "p.(Leu753Gln)" "11" "" "0000442375" "00001012" "55" "2303" "0" "2303" "0" "c.2303A>C" "r.(?)" "p.(Lys768Thr)" "12" "" "0000442376" "00001012" "55" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "12" "" "0000442377" "00001012" "55" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Asp812Asn)" "12" "" "0000442378" "00001012" "55" "2456" "0" "2456" "0" "c.2456T>A" "r.(?)" "p.(Ile819Asn)" "12" "" "0000442379" "00001012" "55" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "12" "" "0000442380" "00001012" "55" "2540" "0" "2540" "0" "c.2540del" "r.2540del" "p.Leu847Argfs*83" "13" "" "0000442381" "00001012" "55" "2578" "-3" "2578" "-3" "c.2578-3A>G" "r.spl" "p.(Ala860fs)" "13i" "" "0000442382" "00001012" "55" "2580" "0" "2580" "0" "c.2580T>C" "r.(?)" "p.(Ala860=)" "14" "" "0000442383" "00001012" "99" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "13" "Armadillo 8" "0000442384" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442385" "00001012" "95" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "3" "N-terminus" "0000442386" "00001012" "99" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "10i" "" "0000442387" "00001012" "99" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413*)" "5" "Armadillo 2" "0000442388" "00001012" "99" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "1" "N-terminus" "0000442389" "00001012" "75" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "1" "N-terminus" "0000442390" "00001012" "99" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Gln707*)" "10" "Armadillo 5" "0000442391" "00001012" "95" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Arg735Gln)" "11" "Armadillo 6" "0000442392" "00001012" "99" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406Serfs*4)" "5" "Armadillo 2" "0000442393" "00001012" "95" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "7" "" "0000442394" "00001012" "95" "1655" "0" "1655" "0" "c.1655T>G" "r.(?)" "p.(Phe552Cys)" "7" "" "0000442395" "00001012" "55" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asn)" "1" "" "0000442448" "00001012" "90" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000442449" "00001012" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Gln707*)" "" "" "0000442452" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "" "" "0000442453" "00001012" "50" "2333" "0" "2333" "0" "c.2333T>C" "r.(?)" "p.(Ile778Thr)" "" "" "0000442455" "00001012" "50" "627" "0" "627" "0" "c.627C>G" "r.(?)" "p.(Ser209Arg)" "" "" "0000442456" "00001012" "90" "2447" "0" "2448" "0" "c.2447_2448del" "r.(?)" "p.(Thr816Argfs*10)" "" "" "0000442459" "00001012" "50" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000442460" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "" "" "0000442462" "00001012" "90" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Trp538*)" "" "" "0000442463" "00001012" "50" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(Gln638His)" "" "" "0000442466" "00001012" "90" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Trp538*)" "" "" "0000442467" "00001012" "50" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "" "" "0000442468" "00001012" "50" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Leu787Phe)" "" "" "0000442469" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "" "" "0000442470" "00001012" "50" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "" "" "0000442471" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "" "" "0000547837" "00025790" "10" "2795" "0" "2795" "0" "c.*281A>G" "r.(=)" "p.(=)" "" "" "0000547837" "00001012" "10" "2927" "0" "2927" "0" "c.*281A>G" "r.(=)" "p.(=)" "" "" "0000547838" "00025790" "10" "2765" "0" "2765" "0" "c.*251C>G" "r.(=)" "p.(=)" "" "" "0000547838" "00001012" "10" "2897" "0" "2897" "0" "c.*251C>G" "r.(=)" "p.(=)" "" "" "0000547839" "00025790" "30" "2741" "0" "2741" "0" "c.*227T>G" "r.(=)" "p.(=)" "" "" "0000547839" "00001012" "30" "2873" "0" "2873" "0" "c.*227T>G" "r.(=)" "p.(=)" "" "" "0000547840" "00025790" "30" "2586" "0" "2586" "0" "c.*72A>C" "r.(=)" "p.(=)" "" "" "0000547840" "00001012" "30" "2718" "0" "2718" "0" "c.*72A>C" "r.(=)" "p.(=)" "" "" "0000547841" "00025790" "30" "2563" "0" "2564" "0" "c.*49_*50insA" "r.(=)" "p.(=)" "" "" "0000547841" "00001012" "30" "2695" "0" "2696" "0" "c.*49_*50insA" "r.(=)" "p.(=)" "" "" "0000547842" "00025790" "30" "2499" "0" "2499" "0" "c.2499C>A" "r.(?)" "p.(His833Gln)" "" "" "0000547842" "00001012" "30" "2631" "0" "2631" "0" "c.2631C>A" "r.(?)" "p.(His877Gln)" "" "" "0000547843" "00025790" "90" "2498" "0" "2499" "0" "c.2498_2499dup" "r.(?)" "p.(Ser834ThrfsTer54)" "" "" "0000547843" "00001012" "90" "2630" "0" "2631" "0" "c.2630_2631dup" "r.(?)" "p.(Ser878ThrfsTer54)" "" "" "0000547844" "00025790" "10" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Ile)" "" "" "0000547844" "00001012" "10" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Thr872Ile)" "" "" "0000547845" "00025790" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Ile)" "" "" "0000547845" "00001012" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Thr872Ile)" "" "" "0000547847" "00025790" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Ile)" "" "" "0000547847" "00001012" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Thr872Ile)" "" "" "0000547848" "00025790" "50" "2480" "0" "2480" "0" "c.2480G>A" "r.(?)" "p.(Arg827Gln)" "" "" "0000547848" "00001012" "50" "2612" "0" "2612" "0" "c.2612G>A" "r.(?)" "p.(Arg871Gln)" "" "" "0000547849" "00025790" "30" "2446" "-10" "2446" "-10" "c.2446-10dup" "r.(=)" "p.(=)" "" "" "0000547849" "00001012" "30" "2578" "-10" "2578" "-10" "c.2578-10dup" "r.(=)" "p.(=)" "" "" "0000547850" "00025790" "10" "2446" "-10" "2446" "-10" "c.2446-10dup" "r.(=)" "p.(=)" "" "" "0000547850" "00001012" "10" "2578" "-10" "2578" "-10" "c.2578-10dup" "r.(=)" "p.(=)" "" "" "0000547851" "00025790" "10" "2446" "-60" "2446" "-60" "c.2446-60C>A" "r.(=)" "p.(=)" "" "" "0000547851" "00001012" "10" "2578" "-60" "2578" "-60" "c.2578-60C>A" "r.(=)" "p.(=)" "" "" "0000547852" "00025790" "10" "2446" "-69" "2446" "-69" "c.2446-69G>A" "r.(=)" "p.(=)" "" "" "0000547852" "00001012" "10" "2578" "-69" "2578" "-69" "c.2578-69G>A" "r.(=)" "p.(=)" "" "" "0000547853" "00025790" "50" "2422" "0" "2422" "0" "c.2422del" "r.(?)" "p.(Glu808AsnfsTer79)" "" "" "0000547853" "00001012" "50" "2554" "0" "2554" "0" "c.2554del" "r.(?)" "p.(Glu852AsnfsTer79)" "" "" "0000547854" "00025790" "90" "2377" "0" "2377" "0" "c.2377del" "r.(?)" "p.(Ser793ValfsTer94)" "" "" "0000547854" "00001012" "90" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837ValfsTer94)" "" "" "0000547855" "00025790" "50" "2375" "0" "2375" "0" "c.2375C>A" "r.(?)" "p.(Ala792Glu)" "" "" "0000547855" "00001012" "50" "2507" "0" "2507" "0" "c.2507C>A" "r.(?)" "p.(Ala836Glu)" "" "" "0000547856" "00025790" "10" "2358" "-56" "2358" "-56" "c.2358-56C>A" "r.(=)" "p.(=)" "" "" "0000547856" "00001012" "10" "2490" "-56" "2490" "-56" "c.2490-56C>A" "r.(=)" "p.(=)" "" "" "0000547857" "00025790" "10" "2358" "-104" "2358" "-104" "c.2358-104C>G" "r.(=)" "p.(=)" "" "" "0000547857" "00001012" "10" "2490" "-104" "2490" "-104" "c.2490-104C>G" "r.(=)" "p.(=)" "" "" "0000547858" "00025790" "10" "2357" "14" "2357" "15" "c.2357+14_2357+15insC" "r.(=)" "p.(=)" "" "" "0000547858" "00001012" "10" "2489" "14" "2489" "15" "c.2489+14_2489+15insC" "r.(=)" "p.(=)" "" "" "0000547859" "00025790" "10" "2357" "13" "2357" "14" "c.2357+13_2357+14insC" "r.(=)" "p.(=)" "" "" "0000547859" "00001012" "10" "2489" "13" "2489" "14" "c.2489+13_2489+14insC" "r.(=)" "p.(=)" "" "" "0000547860" "00025790" "10" "2357" "13" "2357" "14" "c.2357+13_2357+14insC" "r.(=)" "p.(=)" "" "" "0000547860" "00001012" "10" "2489" "13" "2489" "14" "c.2489+13_2489+14insC" "r.(=)" "p.(=)" "" "" "0000547861" "00025790" "10" "2357" "12" "2357" "13" "c.2357+12_2357+13insC" "r.(=)" "p.(=)" "" "" "0000547861" "00001012" "10" "2489" "12" "2489" "13" "c.2489+12_2489+13insC" "r.(=)" "p.(=)" "" "" "0000547862" "00025790" "30" "2357" "12" "2357" "13" "c.2357+12_2357+13insC" "r.(=)" "p.(=)" "" "" "0000547862" "00001012" "30" "2489" "12" "2489" "13" "c.2489+12_2489+13insC" "r.(=)" "p.(=)" "" "" "0000547863" "00025790" "90" "2357" "1" "2357" "1" "c.2357+1G>A" "r.spl?" "p.?" "" "" "0000547863" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl?" "p.?" "" "" "0000547864" "00025790" "30" "2353" "0" "2353" "0" "c.2353G>A" "r.(?)" "p.(Asp785Asn)" "" "" "0000547864" "00001012" "30" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "" "" "0000547865" "00025790" "90" "2346" "0" "2346" "0" "c.2346del" "r.(?)" "p.(Ser782ArgfsTer105)" "" "" "0000547865" "00001012" "90" "2478" "0" "2478" "0" "c.2478del" "r.(?)" "p.(Ser826ArgfsTer105)" "" "" "0000547866" "00025790" "30" "2308" "0" "2308" "0" "c.2308C>T" "r.(?)" "p.(Leu770=)" "" "" "0000547866" "00001012" "30" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Leu814=)" "" "" "0000547867" "00025790" "50" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Asp768Asn)" "" "" "0000547867" "00001012" "50" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Asp812Asn)" "" "" "0000547868" "00025790" "30" "2301" "0" "2301" "0" "c.2301C>T" "r.(?)" "p.(Arg767=)" "" "" "0000547868" "00001012" "30" "2433" "0" "2433" "0" "c.2433C>T" "r.(?)" "p.(Arg811=)" "" "" "0000547869" "00025790" "50" "2264" "0" "2264" "0" "c.2264T>C" "r.(?)" "p.(Leu755Ser)" "" "" "0000547869" "00001012" "50" "2396" "0" "2396" "0" "c.2396T>C" "r.(?)" "p.(Leu799Ser)" "" "" "0000547870" "00025790" "90" "2254" "0" "2254" "0" "c.2254T>C" "r.(?)" "p.(Cys752Arg)" "" "" "0000547870" "00001012" "90" "2386" "0" "2386" "0" "c.2386T>C" "r.(?)" "p.(Cys796Arg)" "" "" "0000547872" "00025790" "30" "2229" "0" "2229" "0" "c.2229T>G" "r.(?)" "p.(Leu743=)" "" "" "0000547872" "00001012" "30" "2361" "0" "2361" "0" "c.2361T>G" "r.(?)" "p.(Leu787=)" "" "" "0000547873" "00025790" "30" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Asp742=)" "" "" "0000547873" "00001012" "30" "2358" "0" "2358" "0" "c.2358C>T" "r.(?)" "p.(Asp786=)" "" "" "0000547874" "00025790" "50" "2213" "0" "2213" "0" "c.2213T>C" "r.(?)" "p.(Val738Ala)" "" "" "0000547874" "00001012" "50" "2345" "0" "2345" "0" "c.2345T>C" "r.(?)" "p.(Val782Ala)" "" "" "0000547875" "00025790" "30" "2193" "0" "2193" "0" "c.2193T>G" "r.(?)" "p.(Val731=)" "" "" "0000547875" "00001012" "30" "2325" "0" "2325" "0" "c.2325T>G" "r.(?)" "p.(Val775=)" "" "" "0000547876" "00025790" "30" "2168" "-4" "2168" "-4" "c.2168-4G>T" "r.spl?" "p.?" "" "" "0000547876" "00001012" "30" "2300" "-4" "2300" "-4" "c.2300-4G>T" "r.spl?" "p.?" "" "" "0000547878" "00025790" "10" "2168" "-11" "2168" "-10" "c.2168-11_2168-10insTTCT" "r.(=)" "p.(=)" "" "" "0000547878" "00001012" "10" "2300" "-11" "2300" "-10" "c.2300-11_2300-10insTTCT" "r.(=)" "p.(=)" "" "" "0000547879" "00025790" "10" "2168" "-12" "2168" "-11" "c.2168-12_2168-11dup" "r.(=)" "p.(=)" "" "" "0000547879" "00001012" "10" "2300" "-12" "2300" "-11" "c.2300-12_2300-11dup" "r.(=)" "p.(=)" "" "" "0000547880" "00025790" "10" "2168" "-11" "2168" "-11" "c.2168-11dup" "r.(=)" "p.(=)" "" "" "0000547880" "00001012" "10" "2300" "-11" "2300" "-11" "c.2300-11dup" "r.(=)" "p.(=)" "" "" "0000547881" "00025790" "30" "2168" "-11" "2168" "-11" "c.2168-11dup" "r.(=)" "p.(=)" "" "" "0000547881" "00001012" "30" "2300" "-11" "2300" "-11" "c.2300-11dup" "r.(=)" "p.(=)" "" "" "0000547882" "00025790" "10" "2168" "-11" "2168" "-11" "c.2168-11dup" "r.(=)" "p.(=)" "" "" "0000547882" "00001012" "10" "2300" "-11" "2300" "-11" "c.2300-11dup" "r.(=)" "p.(=)" "" "" "0000547883" "00025790" "10" "2168" "-21" "2168" "-20" "c.2168-21_2168-20del" "r.(=)" "p.(=)" "" "" "0000547883" "00001012" "10" "2300" "-21" "2300" "-20" "c.2300-21_2300-20del" "r.(=)" "p.(=)" "" "" "0000547884" "00025790" "10" "2168" "-21" "2168" "-20" "c.2168-21_2168-20del" "r.(=)" "p.(=)" "" "" "0000547884" "00001012" "10" "2300" "-21" "2300" "-20" "c.2300-21_2300-20del" "r.(=)" "p.(=)" "" "" "0000547885" "00025790" "10" "2167" "7" "2167" "7" "c.2167+7C>T" "r.(=)" "p.(=)" "" "" "0000547885" "00001012" "10" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(=)" "p.(=)" "" "" "0000547886" "00025790" "50" "2141" "0" "2141" "0" "c.2141G>A" "r.(?)" "p.(Arg714Gln)" "" "" "0000547886" "00001012" "50" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Arg758Gln)" "" "" "0000547887" "00025790" "50" "2126" "0" "2126" "0" "c.2126T>C" "r.(?)" "p.(Leu709Pro)" "" "" "0000547887" "00001012" "50" "2258" "0" "2258" "0" "c.2258T>C" "r.(?)" "p.(Leu753Pro)" "" "" "0000547888" "00025790" "30" "2121" "0" "2121" "0" "c.2121G>A" "r.(?)" "p.(Ser707=)" "" "" "0000547888" "00001012" "30" "2253" "0" "2253" "0" "c.2253G>A" "r.(?)" "p.(Ser751=)" "" "" "0000547889" "00025790" "90" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691Ter)" "" "" "0000547889" "00001012" "90" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Arg735Ter)" "" "" "0000547890" "00025790" "30" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Ser685Asn)" "" "" "0000547890" "00001012" "30" "2186" "0" "2186" "0" "c.2186G>A" "r.(?)" "p.(Ser729Asn)" "" "" "0000547891" "00025790" "10" "2014" "-16" "2014" "-16" "c.2014-16A>G" "r.(=)" "p.(=)" "" "" "0000547891" "00001012" "10" "2146" "-16" "2146" "-16" "c.2146-16A>G" "r.(=)" "p.(=)" "" "" "0000547892" "00025790" "10" "2013" "72" "2013" "72" "c.2013+72A>G" "r.(=)" "p.(=)" "" "" "0000547892" "00001012" "10" "2145" "72" "2145" "72" "c.2145+72A>G" "r.(=)" "p.(=)" "" "" "0000547893" "00025790" "10" "2013" "45" "2013" "45" "c.2013+45G>A" "r.(=)" "p.(=)" "" "" "0000547893" "00001012" "10" "2145" "45" "2145" "45" "c.2145+45G>A" "r.(=)" "p.(=)" "" "" "0000547894" "00025790" "50" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Gly668Arg)" "" "" "0000547894" "00001012" "50" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Gly712Arg)" "" "" "0000547895" "00025790" "30" "2002" "0" "2002" "0" "c.2002G>A" "r.(?)" "p.(Gly668Arg)" "" "" "0000547895" "00001012" "30" "2134" "0" "2134" "0" "c.2134G>A" "r.(?)" "p.(Gly712Arg)" "" "" "0000547896" "00025790" "30" "1955" "0" "1955" "0" "c.1955A>G" "r.(?)" "p.(Asn652Ser)" "" "" "0000547896" "00001012" "30" "2087" "0" "2087" "0" "c.2087A>G" "r.(?)" "p.(Asn696Ser)" "" "" "0000547897" "00025790" "50" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Cys)" "" "" "0000547897" "00001012" "50" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "" "0000547898" "00025790" "30" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Cys)" "" "" "0000547898" "00001012" "30" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "" "0000547899" "00025790" "50" "1945" "0" "1945" "0" "c.1945A>G" "r.(?)" "p.(Ser649Gly)" "" "" "0000547899" "00001012" "50" "2077" "0" "2077" "0" "c.2077A>G" "r.(?)" "p.(Ser693Gly)" "" "" "0000547900" "00025790" "90" "1881" "0" "1881" "0" "c.1881del" "r.(?)" "p.(Lys628ArgfsTer12)" "" "" "0000547900" "00001012" "90" "2013" "0" "2013" "0" "c.2013del" "r.(?)" "p.(Lys672ArgfsTer12)" "" "" "0000547901" "00025790" "50" "1825" "0" "1825" "0" "c.1825A>G" "r.(?)" "p.(Arg609Gly)" "" "" "0000547901" "00001012" "50" "1957" "0" "1957" "0" "c.1957A>G" "r.(?)" "p.(Arg653Gly)" "" "" "0000547902" "00025790" "90" "1716" "0" "1716" "0" "c.1716C>A" "r.(?)" "p.(Tyr572Ter)" "" "" "0000547902" "00001012" "90" "1848" "0" "1848" "0" "c.1848C>A" "r.(?)" "p.(Tyr616Ter)" "" "" "0000547903" "00025790" "70" "1712" "0" "1712" "0" "c.1712C>T" "r.(?)" "p.(Ser571Phe)" "" "" "0000547903" "00001012" "70" "1844" "0" "1844" "0" "c.1844C>T" "r.(?)" "p.(Ser615Phe)" "" "" "0000547904" "00025790" "50" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Ile550Thr)" "" "" "0000547904" "00001012" "50" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Ile594Thr)" "" "" "0000547905" "00025790" "10" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Val543Ile)" "" "" "0000547905" "00001012" "10" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "" "0000547906" "00025790" "30" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Val543Ile)" "" "" "0000547906" "00001012" "30" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "" "0000547907" "00025790" "30" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Val543Ile)" "" "" "0000547907" "00001012" "30" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "" "0000547908" "00025790" "10" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Val543Ile)" "" "" "0000547908" "00001012" "10" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "" "0000547909" "00025790" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Asp540=)" "" "" "0000547909" "00001012" "30" "1752" "0" "1752" "0" "c.1752C>T" "r.(?)" "p.(Asp584=)" "" "" "0000547910" "00025790" "90" "1557" "-1" "1557" "-1" "c.1557-1G>C" "r.spl?" "p.?" "" "" "0000547910" "00001012" "90" "1689" "-1" "1689" "-1" "c.1689-1G>C" "r.spl?" "p.?" "" "" "0000547911" "00025790" "30" "1557" "-8" "1557" "-8" "c.1557-8dup" "r.(=)" "p.(=)" "" "" "0000547911" "00001012" "30" "1689" "-8" "1689" "-8" "c.1689-8dup" "r.(=)" "p.(=)" "" "" "0000547912" "00025790" "10" "1557" "-8" "1557" "-8" "c.1557-8dup" "r.(=)" "p.(=)" "" "" "0000547912" "00001012" "10" "1689" "-8" "1689" "-8" "c.1689-8dup" "r.(=)" "p.(=)" "" "" "0000547913" "00025790" "10" "1557" "-8" "1557" "-8" "c.1557-8dup" "r.(=)" "p.(=)" "" "" "0000547913" "00001012" "10" "1689" "-8" "1689" "-8" "c.1689-8dup" "r.(=)" "p.(=)" "" "" "0000547914" "00025790" "10" "1557" "-8" "1557" "-8" "c.1557-8dup" "r.(=)" "p.(=)" "" "" "0000547914" "00001012" "10" "1689" "-8" "1689" "-8" "c.1689-8dup" "r.(=)" "p.(=)" "" "" "0000547915" "00025790" "10" "1557" "-8" "1557" "-8" "c.1557-8dup" "r.(=)" "p.(=)" "" "" "0000547915" "00001012" "10" "1689" "-8" "1689" "-8" "c.1689-8dup" "r.(=)" "p.(=)" "" "" "0000547916" "00025790" "10" "1556" "9" "1556" "9" "c.1556+9A>G" "r.(=)" "p.(=)" "" "" "0000547916" "00001012" "10" "1688" "9" "1688" "9" "c.1688+9A>G" "r.(=)" "p.(=)" "" "" "0000547917" "00025790" "30" "1556" "9" "1556" "9" "c.1556+9A>G" "r.(=)" "p.(=)" "" "" "0000547917" "00001012" "30" "1688" "9" "1688" "9" "c.1688+9A>G" "r.(=)" "p.(=)" "" "" "0000547918" "00025790" "10" "1460" "0" "1460" "0" "c.1460T>G" "r.(?)" "p.(Ile487Ser)" "" "" "0000547918" "00001012" "10" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "" "" "0000547919" "00025790" "50" "1460" "0" "1460" "0" "c.1460T>G" "r.(?)" "p.(Ile487Ser)" "" "" "0000547919" "00001012" "50" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "" "" "0000547920" "00025790" "30" "1460" "0" "1460" "0" "c.1460T>G" "r.(?)" "p.(Ile487Ser)" "" "" "0000547920" "00001012" "30" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "" "" "0000547921" "00025790" "30" "1460" "0" "1460" "0" "c.1460T>G" "r.(?)" "p.(Ile487Ser)" "" "" "0000547921" "00001012" "30" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "" "" "0000547922" "00025790" "30" "1460" "0" "1460" "0" "c.1460T>G" "r.(?)" "p.(Ile487Ser)" "" "" "0000547922" "00001012" "30" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Ile531Ser)" "" "" "0000547923" "00025790" "30" "1449" "0" "1449" "0" "c.1449G>A" "r.(?)" "p.(Leu483=)" "" "" "0000547923" "00001012" "30" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Leu527=)" "" "" "0000547925" "00025790" "30" "1444" "0" "1444" "0" "c.1444A>G" "r.(?)" "p.(Thr482Ala)" "" "" "0000547925" "00001012" "30" "1576" "0" "1576" "0" "c.1576A>G" "r.(?)" "p.(Thr526Ala)" "" "" "0000547926" "00025790" "30" "1441" "0" "1441" "0" "c.1441C>G" "r.(?)" "p.(Leu481Val)" "" "" "0000547926" "00001012" "30" "1573" "0" "1573" "0" "c.1573C>G" "r.(?)" "p.(Leu525Val)" "" "" "0000547927" "00025790" "50" "1420" "0" "1420" "0" "c.1420C>A" "r.(?)" "p.(Leu474Ile)" "" "" "0000547927" "00001012" "50" "1552" "0" "1552" "0" "c.1552C>A" "r.(?)" "p.(Leu518Ile)" "" "" "0000547928" "00025790" "30" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Asn473Ser)" "" "" "0000547928" "00001012" "30" "1550" "0" "1550" "0" "c.1550A>G" "r.(?)" "p.(Asn517Ser)" "" "" "0000547929" "00025790" "30" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Asn473Ser)" "" "" "0000547929" "00001012" "30" "1550" "0" "1550" "0" "c.1550A>G" "r.(?)" "p.(Asn517Ser)" "" "" "0000547930" "00025790" "30" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Asn473Ser)" "" "" "0000547930" "00001012" "30" "1550" "0" "1550" "0" "c.1550A>G" "r.(?)" "p.(Asn517Ser)" "" "" "0000547931" "00025790" "50" "1379" "-1972" "1379" "-1972" "c.1379-1972G>A" "r.(=)" "p.(=)" "" "" "0000547931" "00001012" "50" "1510" "5" "1510" "5" "c.1510+5G>A" "r.spl?" "p.?" "" "" "0000547932" "00025790" "50" "1379" "-1979" "1379" "-1979" "c.1379-1979A>G" "r.(=)" "p.(=)" "" "" "0000547932" "00001012" "50" "1508" "0" "1508" "0" "c.1508A>G" "r.(?)" "p.(His503Arg)" "" "" "0000547933" "00025790" "30" "1379" "-2017" "1379" "-2017" "c.1379-2017G>A" "r.(=)" "p.(=)" "" "" "0000547933" "00001012" "30" "1470" "0" "1470" "0" "c.1470G>A" "r.(?)" "p.(Arg490=)" "" "" "0000547934" "00025790" "30" "1379" "-2019" "1379" "-2019" "c.1379-2019C>T" "r.(=)" "p.(=)" "" "" "0000547934" "00001012" "30" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "" "" "0000547935" "00025790" "30" "1379" "-2019" "1379" "-2019" "c.1379-2019C>T" "r.(=)" "p.(=)" "" "" "0000547935" "00001012" "30" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "" "" "0000547936" "00025790" "50" "1379" "-2019" "1379" "-2019" "c.1379-2019C>T" "r.(=)" "p.(=)" "" "" "0000547936" "00001012" "50" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "" "" "0000547937" "00025790" "10" "1379" "-2056" "1379" "-2056" "c.1379-2056C>T" "r.(=)" "p.(=)" "" "" "0000547937" "00001012" "10" "1431" "0" "1431" "0" "c.1431C>T" "r.(?)" "p.(His477=)" "" "" "0000547938" "00025790" "30" "1379" "-2066" "1379" "-2066" "c.1379-2066C>T" "r.(=)" "p.(=)" "" "" "0000547938" "00001012" "30" "1421" "0" "1421" "0" "c.1421C>T" "r.(?)" "p.(Ala474Val)" "" "" "0000547939" "00025790" "30" "1379" "-2068" "1379" "-2068" "c.1379-2068C>T" "r.(=)" "p.(=)" "" "" "0000547939" "00001012" "30" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Gly473=)" "" "" "0000547940" "00025790" "30" "1379" "-2114" "1379" "-2114" "c.1379-2114G>A" "r.(=)" "p.(=)" "" "" "0000547940" "00001012" "30" "1379" "-6" "1379" "-6" "c.1379-6G>A" "r.(=)" "p.(=)" "" "" "0000547941" "00025790" "30" "1379" "-2114" "1379" "-2114" "c.1379-2114G>A" "r.(=)" "p.(=)" "" "" "0000547941" "00001012" "30" "1379" "-6" "1379" "-6" "c.1379-6G>A" "r.(=)" "p.(=)" "" "" "0000547942" "00025790" "30" "1379" "-2130" "1379" "-2130" "c.1379-2130G>A" "r.(=)" "p.(=)" "" "" "0000547942" "00001012" "30" "1379" "-22" "1379" "-22" "c.1379-22G>A" "r.(=)" "p.(=)" "" "" "0000547943" "00025790" "10" "1379" "-2179" "1379" "-2179" "c.1379-2179G>A" "r.(=)" "p.(=)" "" "" "0000547943" "00001012" "10" "1379" "-71" "1379" "-71" "c.1379-71G>A" "r.(=)" "p.(=)" "" "" "0000547944" "00025790" "10" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000547944" "00001012" "10" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000547945" "00025790" "10" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000547945" "00001012" "10" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000547946" "00025790" "30" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000547946" "00001012" "30" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000547947" "00025790" "90" "1369" "0" "1372" "0" "c.1369_1372del" "r.(?)" "p.(Gln457Ter)" "" "" "0000547947" "00001012" "90" "1369" "0" "1372" "0" "c.1369_1372del" "r.(?)" "p.(Gln457Ter)" "" "" "0000547948" "00025790" "30" "1308" "0" "1308" "0" "c.1308A>G" "r.(?)" "p.(Leu436=)" "" "" "0000547948" "00001012" "30" "1308" "0" "1308" "0" "c.1308A>G" "r.(?)" "p.(Leu436=)" "" "" "0000547949" "00025790" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000547949" "00001012" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000547950" "00025790" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000547950" "00001012" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000547951" "00025790" "30" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000547951" "00001012" "30" "1171" "-10" "1171" "-10" "c.1171-10T>C" "r.(=)" "p.(=)" "" "" "0000547952" "00025790" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000547952" "00001012" "10" "1171" "-11" "1171" "-11" "c.1171-11T>C" "r.(=)" "p.(=)" "" "" "0000547953" "00025790" "30" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000547953" "00001012" "30" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000547954" "00025790" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000547954" "00001012" "10" "1097" "0" "1097" "0" "c.1097T>C" "r.(?)" "p.(Leu366Pro)" "" "" "0000547956" "00025790" "50" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Ser358Asn)" "" "" "0000547956" "00001012" "50" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Ser358Asn)" "" "" "0000547957" "00025790" "30" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Ser358Asn)" "" "" "0000547957" "00001012" "30" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Ser358Asn)" "" "" "0000547958" "00025790" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Glu350Lys)" "" "" "0000547958" "00001012" "50" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Glu350Lys)" "" "" "0000547959" "00025790" "30" "1035" "-11" "1035" "-11" "c.1035-11del" "r.(=)" "p.(=)" "" "" "0000547959" "00001012" "30" "1035" "-11" "1035" "-11" "c.1035-11del" "r.(=)" "p.(=)" "" "" "0000547960" "00025790" "30" "1035" "-11" "1035" "-11" "c.1035-11del" "r.(=)" "p.(=)" "" "" "0000547960" "00001012" "30" "1035" "-11" "1035" "-11" "c.1035-11del" "r.(=)" "p.(=)" "" "" "0000547962" "00025790" "50" "1033" "0" "1033" "0" "c.1033G>T" "r.(?)" "p.(Gly345Trp)" "" "" "0000547962" "00001012" "50" "1033" "0" "1033" "0" "c.1033G>T" "r.(?)" "p.(Gly345Trp)" "" "" "0000547963" "00025790" "10" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000547963" "00001012" "10" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000547964" "00025790" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "" "0000547964" "00001012" "50" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Ala326Thr)" "" "" "0000547965" "00025790" "50" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Gly322Cys)" "" "" "0000547965" "00001012" "50" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Gly322Cys)" "" "" "0000547966" "00025790" "30" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Gly322Cys)" "" "" "0000547966" "00001012" "30" "964" "0" "964" "0" "c.964G>T" "r.(?)" "p.(Gly322Cys)" "" "" "0000547967" "00025790" "30" "904" "0" "904" "0" "c.904A>C" "r.(?)" "p.(Arg302=)" "" "" "0000547967" "00001012" "30" "904" "0" "904" "0" "c.904A>C" "r.(?)" "p.(Arg302=)" "" "" "0000547968" "00025790" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000547968" "00001012" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000547969" "00025790" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000547969" "00001012" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000547970" "00025790" "30" "819" "0" "819" "0" "c.819G>T" "r.(?)" "p.(Pro273=)" "" "" "0000547970" "00001012" "30" "819" "0" "819" "0" "c.819G>T" "r.(?)" "p.(Pro273=)" "" "" "0000547971" "00025790" "10" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Arg250=)" "" "" "0000547971" "00001012" "10" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Arg250=)" "" "" "0000547972" "00025790" "30" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Arg250=)" "" "" "0000547972" "00001012" "30" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Arg250=)" "" "" "0000547973" "00025790" "50" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Arg250=)" "" "" "0000547973" "00001012" "50" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Arg250=)" "" "" "0000547974" "00025790" "10" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Leu240=)" "" "" "0000547974" "00001012" "10" "720" "0" "720" "0" "c.720G>A" "r.(?)" "p.(Leu240=)" "" "" "0000547975" "00025790" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0000547975" "00001012" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0000547976" "00025790" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0000547976" "00001012" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0000547977" "00025790" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "" "" "0000547977" "00001012" "50" "713" "0" "713" "0" "c.713C>T" "r.(?)" "p.(Pro238Leu)" "" "" "0000547978" "00025790" "30" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000547978" "00001012" "30" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000547979" "00025790" "30" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000547979" "00001012" "30" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000547980" "00025790" "30" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000547980" "00001012" "30" "706" "0" "706" "0" "c.706G>T" "r.(?)" "p.(Ala236Ser)" "" "" "0000547982" "00025790" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "" "" "0000547982" "00001012" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "" "" "0000547983" "00025790" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Pro152Ser)" "" "" "0000547983" "00001012" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Pro152Ser)" "" "" "0000547985" "00025790" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000547985" "00001012" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000547986" "00025790" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000547986" "00001012" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000547987" "00025790" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Gln129=)" "" "" "0000547987" "00001012" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Gln129=)" "" "" "0000547988" "00025790" "10" "336" "163" "336" "163" "c.336+163G>A" "r.(=)" "p.(=)" "" "" "0000547988" "00001012" "10" "336" "163" "336" "163" "c.336+163G>A" "r.(=)" "p.(=)" "" "" "0000547989" "00025790" "30" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Pro103Ala)" "" "" "0000547989" "00001012" "30" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Pro103Ala)" "" "" "0000547990" "00025790" "30" "306" "0" "306" "0" "c.306C>A" "r.(?)" "p.(Ser102=)" "" "" "0000547990" "00001012" "30" "306" "0" "306" "0" "c.306C>A" "r.(?)" "p.(Ser102=)" "" "" "0000547991" "00025790" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "" "0000547991" "00001012" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "" "0000547993" "00025790" "10" "224" "-18" "224" "-18" "c.224-18A>G" "r.(=)" "p.(=)" "" "" "0000547993" "00001012" "10" "224" "-18" "224" "-18" "c.224-18A>G" "r.(=)" "p.(=)" "" "" "0000547994" "00025790" "30" "223" "26" "223" "26" "c.223+26C>A" "r.(=)" "p.(=)" "" "" "0000547994" "00001012" "30" "223" "26" "223" "26" "c.223+26C>A" "r.(=)" "p.(=)" "" "" "0000547995" "00025790" "30" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000547995" "00001012" "30" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000547996" "00025790" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000547996" "00001012" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000547997" "00025790" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000547997" "00001012" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000547998" "00025790" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000547998" "00001012" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000547999" "00025790" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000547999" "00001012" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000548000" "00025790" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Ser53Ile)" "" "" "0000548000" "00001012" "50" "158" "0" "158" "0" "c.158G>T" "r.(?)" "p.(Ser53Ile)" "" "" "0000548001" "00025790" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Arg46=)" "" "" "0000548001" "00001012" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Arg46=)" "" "" "0000548002" "00025790" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000548002" "00001012" "10" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000548003" "00025790" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Pro7Ser)" "" "" "0000548003" "00001012" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Pro7Ser)" "" "" "0000548004" "00025790" "50" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Gly5Asp)" "" "" "0000548004" "00001012" "50" "14" "0" "14" "0" "c.14G>A" "r.(?)" "p.(Gly5Asp)" "" "" "0000548005" "00025790" "30" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Pro4=)" "" "" "0000548005" "00001012" "30" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Pro4=)" "" "" "0000548006" "00025790" "50" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Pro4=)" "" "" "0000548006" "00001012" "50" "12" "0" "12" "0" "c.12C>T" "r.(?)" "p.(Pro4=)" "" "" "0000614100" "00025790" "50" "2488" "0" "2488" "0" "c.2488A>G" "r.(?)" "p.(Lys830Glu)" "" "" "0000614100" "00001012" "50" "2620" "0" "2620" "0" "c.2620A>G" "r.(?)" "p.(Lys874Glu)" "" "" "0000614101" "00025790" "90" "2357" "4" "2357" "4" "c.2357+4A>C" "r.spl?" "p.?" "" "" "0000614101" "00001012" "90" "2489" "4" "2489" "4" "c.2489+4A>C" "r.spl?" "p.?" "" "" "0000614102" "00025790" "30" "2299" "0" "2299" "0" "c.2299C>A" "r.(?)" "p.(Arg767Ser)" "" "" "0000614102" "00001012" "30" "2431" "0" "2431" "0" "c.2431C>A" "r.(?)" "p.(Arg811Ser)" "" "" "0000614103" "00025790" "50" "2297" "0" "2297" "0" "c.2297C>G" "r.(?)" "p.(Ala766Gly)" "" "" "0000614103" "00001012" "50" "2429" "0" "2429" "0" "c.2429C>G" "r.(?)" "p.(Ala810Gly)" "" "" "0000614104" "00025790" "70" "2168" "-1" "2168" "-1" "c.2168-1G>A" "r.spl?" "p.?" "" "" "0000614104" "00001012" "70" "2300" "-1" "2300" "-1" "c.2300-1G>A" "r.spl?" "p.?" "" "" "0000614105" "00025790" "30" "1740" "0" "1740" "0" "c.1740G>T" "r.(?)" "p.(Glu580Asp)" "" "" "0000614105" "00001012" "30" "1872" "0" "1872" "0" "c.1872G>T" "r.(?)" "p.(Glu624Asp)" "" "" "0000614107" "00025790" "10" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Val543Ile)" "" "" "0000614107" "00001012" "10" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "" "0000614109" "00025790" "10" "1445" "0" "1445" "0" "c.1445C>T" "r.(?)" "p.(Thr482Met)" "" "" "0000614109" "00001012" "10" "1577" "0" "1577" "0" "c.1577C>T" "r.(?)" "p.(Thr526Met)" "" "" "0000614110" "00025790" "30" "1379" "-2019" "1379" "-2019" "c.1379-2019C>T" "r.(=)" "p.(=)" "" "" "0000614110" "00001012" "30" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Arg490Trp)" "" "" "0000614111" "00025790" "30" "1379" "-2022" "1379" "-2022" "c.1379-2022G>A" "r.(=)" "p.(=)" "" "" "0000614111" "00001012" "30" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Gly489Arg)" "" "" "0000614112" "00025790" "30" "1379" "-2027" "1379" "-2027" "c.1379-2027A>G" "r.(=)" "p.(=)" "" "" "0000614112" "00001012" "30" "1460" "0" "1460" "0" "c.1460A>G" "r.(?)" "p.(Gln487Arg)" "" "" "0000614113" "00025790" "90" "1369" "0" "1372" "0" "c.1369_1372del" "r.(?)" "p.(Gln457Ter)" "" "" "0000614113" "00001012" "90" "1369" "0" "1372" "0" "c.1369_1372del" "r.(?)" "p.(Gln457Ter)" "" "" "0000614114" "00025790" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000614114" "00001012" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000614115" "00025790" "50" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000614115" "00001012" "50" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000614116" "00025790" "50" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Ala317Val)" "" "" "0000614116" "00001012" "50" "950" "0" "950" "0" "c.950C>T" "r.(?)" "p.(Ala317Val)" "" "" "0000614117" "00025790" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000614117" "00001012" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000614118" "00025790" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "" "0000614118" "00001012" "10" "819" "0" "819" "0" "c.819G>A" "r.(?)" "p.(Pro273=)" "" "" "0000614119" "00025790" "30" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Pro273Leu)" "" "" "0000614119" "00001012" "30" "818" "0" "818" "0" "c.818C>T" "r.(?)" "p.(Pro273Leu)" "" "" "0000614120" "00025790" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "" "0000614120" "00001012" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "" "0000614121" "00025790" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000614121" "00001012" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000614122" "00025790" "10" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000614122" "00001012" "10" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ser140Phe)" "" "" "0000614123" "00025790" "50" "418" "0" "418" "0" "c.418T>A" "r.(?)" "p.(Ser140Thr)" "" "" "0000614123" "00001012" "50" "418" "0" "418" "0" "c.418T>A" "r.(?)" "p.(Ser140Thr)" "" "" "0000614124" "00025790" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000614124" "00001012" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000614125" "00025790" "30" "284" "0" "284" "0" "c.284A>C" "r.(?)" "p.(Asn95Thr)" "" "" "0000614125" "00001012" "30" "284" "0" "284" "0" "c.284A>C" "r.(?)" "p.(Asn95Thr)" "" "" "0000614126" "00025790" "50" "253" "0" "253" "0" "c.253G>T" "r.(?)" "p.(Glu85Ter)" "" "" "0000614126" "00001012" "50" "253" "0" "253" "0" "c.253G>T" "r.(?)" "p.(Glu85Ter)" "" "" "0000614127" "00025790" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000614127" "00001012" "10" "209" "0" "209" "0" "c.209G>T" "r.(?)" "p.(Ser70Ile)" "" "" "0000614128" "00025790" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000614128" "00001012" "50" "184" "0" "184" "0" "c.184C>A" "r.(?)" "p.(Gln62Lys)" "" "" "0000614129" "00025790" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000614129" "00001012" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000614130" "00025790" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Ile56=)" "" "" "0000614130" "00001012" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Ile56=)" "" "" "0000614131" "00025790" "30" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Thr50Ala)" "" "" "0000614131" "00001012" "30" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Thr50Ala)" "" "" "0000614132" "00025790" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Leu32=)" "" "" "0000614132" "00001012" "30" "96" "0" "96" "0" "c.96G>A" "r.(?)" "p.(Leu32=)" "" "" "0000622868" "00025790" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Ile)" "" "" "0000622868" "00001012" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Thr872Ile)" "" "" "0000622869" "00025790" "10" "2260" "0" "2260" "0" "c.2260A>G" "r.(?)" "p.(Thr754Ala)" "" "" "0000622869" "00001012" "10" "2392" "0" "2392" "0" "c.2392A>G" "r.(?)" "p.(Thr798Ala)" "" "" "0000622870" "00025790" "10" "1965" "0" "1965" "0" "c.1965A>G" "r.(?)" "p.(Gln655=)" "" "" "0000622870" "00001012" "10" "2097" "0" "2097" "0" "c.2097A>G" "r.(?)" "p.(Gln699=)" "" "" "0000622871" "00025790" "30" "1379" "-2066" "1379" "-2066" "c.1379-2066C>T" "r.(=)" "p.(=)" "" "" "0000622871" "00001012" "30" "1421" "0" "1421" "0" "c.1421C>T" "r.(?)" "p.(Ala474Val)" "" "" "0000622872" "00025790" "10" "1379" "-2068" "1379" "-2068" "c.1379-2068C>T" "r.(=)" "p.(=)" "" "" "0000622872" "00001012" "10" "1419" "0" "1419" "0" "c.1419C>T" "r.(?)" "p.(Gly473=)" "" "" "0000622873" "00025790" "30" "1251" "0" "1251" "0" "c.1251G>T" "r.(?)" "p.(Gly417=)" "" "" "0000622873" "00001012" "30" "1251" "0" "1251" "0" "c.1251G>T" "r.(?)" "p.(Gly417=)" "" "" "0000622874" "00025790" "10" "942" "0" "942" "0" "c.942G>T" "r.(?)" "p.(Gly314=)" "" "" "0000622874" "00001012" "10" "942" "0" "942" "0" "c.942G>T" "r.(?)" "p.(Gly314=)" "" "" "0000622875" "00025790" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000622875" "00001012" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000622876" "00025790" "50" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Asn74Asp)" "" "" "0000622876" "00001012" "50" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Asn74Asp)" "" "" "0000648536" "00025790" "30" "2167" "7" "2167" "7" "c.2167+7C>T" "r.(=)" "p.(=)" "" "" "0000648536" "00001012" "30" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(=)" "p.(=)" "" "" "0000648537" "00025790" "50" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Cys)" "" "" "0000648537" "00001012" "50" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "" "0000648538" "00025790" "90" "1867" "0" "1867" "0" "c.1867G>T" "r.(?)" "p.(Glu623*)" "" "" "0000648538" "00001012" "90" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Glu667*)" "" "" "0000648539" "00025790" "50" "1415" "0" "1415" "0" "c.1415A>C" "r.(?)" "p.(Lys472Thr)" "" "" "0000648539" "00001012" "50" "1547" "0" "1547" "0" "c.1547A>C" "r.(?)" "p.(Lys516Thr)" "" "" "0000648540" "00025790" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000648540" "00001012" "30" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0000648541" "00025790" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000648541" "00001012" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0000657078" "00025790" "30" "2001" "0" "2001" "0" "c.2001C>T" "r.(?)" "p.(Ala667=)" "" "" "0000657078" "00001012" "30" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Ala711=)" "" "" "0000657079" "00025790" "30" "1740" "0" "1740" "0" "c.1740G>T" "r.(?)" "p.(Glu580Asp)" "" "" "0000657079" "00001012" "30" "1872" "0" "1872" "0" "c.1872G>T" "r.(?)" "p.(Glu624Asp)" "" "" "0000657080" "00025790" "30" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000657080" "00001012" "30" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000657081" "00025790" "30" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000657081" "00001012" "30" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000657082" "00025790" "10" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "" "0000657082" "00001012" "10" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "" "0000657083" "00025790" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0000657083" "00001012" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0000669167" "00025790" "30" "2167" "7" "2167" "7" "c.2167+7C>T" "r.(=)" "p.(=)" "" "" "0000669167" "00001012" "30" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(=)" "p.(=)" "" "" "0000670206" "00001012" "70" "1664" "0" "1664" "0" "c.1664del" "r.(?)" "p.(Phe555Serfs*8)" "" "" "0000670210" "00001012" "70" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl?" "p.?" "" "" "0000670211" "00001012" "70" "1378" "1" "1378" "1" "c.1378+1G>C" "r.spl?" "p.?" "" "" "0000670212" "00001012" "50" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Gly75Arg)" "" "" "0000670213" "00001012" "70" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Glu380*)" "" "" "0000679498" "00025790" "30" "2168" "-11" "2168" "-11" "c.2168-11dup" "r.(=)" "p.(=)" "" "" "0000679498" "00001012" "30" "2300" "-11" "2300" "-11" "c.2300-11dup" "r.(=)" "p.(=)" "" "" "0000679499" "00025790" "90" "2149" "0" "2149" "0" "c.2149del" "r.(?)" "p.(Ser717LeufsTer39)" "" "" "0000679499" "00001012" "90" "2281" "0" "2281" "0" "c.2281del" "r.(?)" "p.(Ser761LeufsTer39)" "" "" "0000679500" "00025790" "50" "1379" "-2033" "1379" "-2033" "c.1379-2033G>A" "r.(=)" "p.(=)" "" "" "0000679500" "00001012" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Gly485Glu)" "" "" "0000679501" "00025790" "30" "1379" "-2068" "1379" "-2066" "c.1379-2068_1379-2066delinsTGT" "r.(=)" "p.(=)" "" "" "0000679501" "00001012" "30" "1419" "0" "1421" "0" "c.1419_1421delinsTGT" "r.(?)" "p.(Ala474Val)" "" "" "0000679502" "00025790" "30" "1379" "-2072" "1379" "-2072" "c.1379-2072C>T" "r.(=)" "p.(=)" "" "" "0000679502" "00001012" "30" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Pro472Leu)" "" "" "0000679503" "00025790" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000679503" "00001012" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000679504" "00025790" "70" "932" "0" "941" "0" "c.932_941del" "r.(?)" "p.(Asp311GlyfsTer6)" "" "" "0000679504" "00001012" "70" "932" "0" "941" "0" "c.932_941del" "r.(?)" "p.(Asp311GlyfsTer6)" "" "" "0000679505" "00025790" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Val310Met)" "" "" "0000679505" "00001012" "50" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Val310Met)" "" "" "0000679506" "00025790" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Pro306=)" "" "" "0000679506" "00001012" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Pro306=)" "" "" "0000679507" "00025790" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0000679507" "00001012" "30" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0000691326" "00025790" "30" "1379" "-2033" "1379" "-2033" "c.1379-2033G>A" "r.(=)" "p.(=)" "" "" "0000691326" "00001012" "30" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Gly485Glu)" "" "" "0000691327" "00025790" "30" "1379" "-2067" "1379" "-2067" "c.1379-2067G>A" "r.(=)" "p.(=)" "" "" "0000691327" "00001012" "30" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Ala474Thr)" "" "" "0000691328" "00025790" "30" "996" "0" "996" "0" "c.996G>A" "r.(?)" "p.(Leu332=)" "" "" "0000691328" "00001012" "30" "996" "0" "996" "0" "c.996G>A" "r.(?)" "p.(Leu332=)" "" "" "0000700680" "00001012" "50" "2447" "0" "2447" "0" "c.2447C>G" "r.(?)" "p.(Thr816Ser)" "" "" "0000700681" "00001012" "50" "2623" "0" "2623" "0" "c.2623G>T" "r.(?)" "p.(Ala875Ser)" "" "" "0000700820" "00001012" "50" "68" "0" "68" "0" "c.68G>A" "r.(?)" "p.(Gly23Glu)" "" "" "0000700821" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50Serfs*61)" "" "" "0000700822" "00001012" "90" "215" "0" "215" "0" "c.215del" "r.(?)" "p.(Val72Glyfs*40)" "" "" "0000700823" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79*)" "" "" "0000700824" "00001012" "90" "253" "0" "256" "0" "c.253_256del" "r.(?)" "p.(Glu85Metfs*26)" "" "" "0000700825" "00001012" "90" "275" "0" "275" "0" "c.275T>A" "r.(?)" "p.(Leu92*)" "" "" "0000700826" "00001012" "90" "314" "0" "314" "0" "c.314del" "r.(?)" "p.(Pro105Leufs*7)" "" "" "0000700827" "00001012" "90" "337" "-2" "337" "-2" "c.337-2A>T" "r.spl" "p.?" "" "" "0000700828" "00001012" "90" "356" "0" "356" "0" "c.356dup" "r.(?)" "p.(Tyr119*)" "" "" "0000700829" "00001012" "90" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Glu120*)" "" "" "0000700830" "00001012" "90" "663" "0" "663" "0" "c.663C>A" "r.(?)" "p.(Tyr221*)" "" "" "0000700831" "00001012" "90" "775" "0" "775" "0" "c.775G>T" "r.(?)" "p.(Glu259*)" "" "" "0000700832" "00001012" "50" "941" "0" "941" "0" "c.941G>A" "r.(?)" "p.(Gly314Glu)" "" "" "0000700833" "00001012" "90" "968" "0" "975" "0" "c.968_975delinsGCCTTT" "r.(?)" "p.(Gln323Argfs*12)" "" "" "0000700834" "00001012" "90" "1063" "0" "1063" "0" "c.1063C>T" "r.(?)" "p.(Arg355*)" "" "" "0000700835" "00001012" "90" "1101" "0" "1101" "0" "c.1101dup" "r.(?)" "p.(Ser368Ilefs*19)" "" "" "0000700836" "00001012" "50" "1114" "0" "1114" "0" "c.1114G>A" "r.(?)" "p.(Ala372Thr)" "" "" "0000700837" "00001012" "90" "1125" "0" "1132" "0" "c.1125_1132del" "r.(?)" "p.(Phe376Alafs*8)" "" "" "0000700838" "00001012" "90" "1132" "0" "1132" "0" "c.1132C>T" "r.(?)" "p.(Gln378*)" "" "" "0000700839" "00001012" "90" "1170" "1" "1170" "1" "c.1170+1G>C" "r.spl" "p.?" "" "" "0000700840" "00001012" "70" "1173" "0" "1378" "2" "c.1173_1378+2del" "r.spl" "p.(Val391Thrfs*6)" "" "" "0000700841" "00001012" "90" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Gln393*)" "" "" "0000700842" "00001012" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406Serfs*4)" "" "" "0000700843" "00001012" "90" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Arg413*)" "" "" "0000700844" "00001012" "70" "1255" "0" "1279" "0" "c.1255_1279dup" "r.(?)" "p.(Asn427Ilefs*7)" "" "" "0000700845" "00001012" "90" "1372" "0" "1375" "0" "c.1372_1375del" "r.(?)" "p.(Ile458Glnfs*7)" "" "" "0000700846" "00001012" "90" "1689" "-1" "1689" "-1" "c.1689-1G>C" "r.spl" "p.?" "" "" "0000700847" "00001012" "90" "1748" "0" "1755" "0" "c.1748_1755dup" "r.(?)" "p.(Val587Thrfs*72)" "" "" "0000700848" "00001012" "90" "1754" "0" "1754" "0" "c.1754C>G" "r.(?)" "p.(Ser585*)" "" "" "0000700849" "00001012" "90" "1892" "0" "1892" "0" "c.1892delinsTCC" "r.(?)" "p.(Tyr631Phefs*26)" "" "" "0000700850" "00001012" "90" "1901" "0" "1901" "0" "c.1901del" "r.(?)" "p.(Asn634Thrfs*22)" "" "" "0000700851" "00001012" "90" "1917" "0" "1935" "0" "c.1917_1935dup" "r.(?)" "p.(Gly646*)" "" "" "0000700852" "00001012" "90" "1968" "0" "1968" "0" "c.1968del" "r.(?)" "p.(Glu657Serfs*27)" "" "" "0000700853" "00001012" "90" "1999" "0" "1999" "0" "c.1999G>T" "r.(?)" "p.(Glu667*)" "" "" "0000700854" "00001012" "90" "2058" "0" "2058" "0" "c.2058T>A" "r.(?)" "p.(Tyr686*)" "" "" "0000700855" "00001012" "50" "2062" "0" "2062" "0" "c.2062T>C" "r.(?)" "p.(Ser688Pro)" "" "" "0000700856" "00001012" "90" "2119" "0" "2119" "0" "c.2119C>T" "r.(?)" "p.(Gln707*)" "" "" "0000700857" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl" "p.?" "" "" "0000700858" "00001012" "90" "2197" "0" "2202" "0" "c.2197_2202delinsG" "r.(?)" "p.(His733Alafs*8)" "" "" "0000700859" "00001012" "50" "2393" "0" "2393" "0" "c.2393C>G" "r.(?)" "p.(Thr798Arg)" "" "" "0000700860" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "" "" "0000700861" "00001012" "90" "2490" "-1" "2490" "-1" "c.2490-1G>C" "r.spl" "p.?" "" "" "0000700862" "00001012" "90" "2493" "0" "2493" "0" "c.2493T>A" "r.(?)" "p.(Tyr831*)" "" "" "0000700863" "00001012" "90" "2509" "0" "2509" "0" "c.2509del" "r.(?)" "p.(Ser837Valfs*94)" "" "" "0000700864" "00001012" "50" "2540" "0" "2540" "0" "c.2540T>C" "r.(?)" "p.(Leu847Pro)" "" "" "0000701647" "00001012" "50" "214" "0" "214" "0" "c.214G>T" "r.(?)" "p.(Val72Leu)" "" "" "0000701648" "00001012" "50" "462" "0" "462" "0" "c.462C>G" "r.(?)" "p.(Ser154Arg)" "" "" "0000701649" "00001012" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Lys)" "" "" "0000701650" "00001012" "50" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Ser172Arg)" "" "" "0000701651" "00001012" "50" "1889" "0" "1889" "0" "c.1889T>C" "r.(?)" "p.(Ile630Thr)" "" "" "0000704328" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl" "p.?" "" "" "0000704332" "00001012" "70" "2361" "0" "2361" "0" "c.2361dup" "r.(?)" "p.(Leu788Serfs*3)" "" "" "0000708305" "00001012" "90" "314" "0" "315" "0" "c.314_315del" "r.(?)" "p.(Pro105Glnfs*4)" "2" "" "0000724008" "00025790" "50" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Gly773Arg)" "" "" "0000724008" "00001012" "50" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Gly817Arg)" "" "" "0000724009" "00025790" "50" "1840" "-14" "1840" "-14" "c.1840-14T>G" "r.(=)" "p.(=)" "" "" "0000724009" "00001012" "50" "1972" "-14" "1972" "-14" "c.1972-14T>G" "r.(=)" "p.(=)" "" "" "0000724010" "00025790" "50" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Glu478Lys)" "" "" "0000724010" "00001012" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Glu522Lys)" "" "" "0000724011" "00025790" "50" "1432" "0" "1432" "0" "c.1432G>A" "r.(?)" "p.(Glu478Lys)" "" "" "0000724011" "00001012" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Glu522Lys)" "" "" "0000724012" "00025790" "10" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000724012" "00001012" "10" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000724013" "00025790" "10" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Thr229=)" "" "" "0000724013" "00001012" "10" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Thr229=)" "" "" "0000724014" "00025790" "30" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Pro156=)" "" "" "0000724014" "00001012" "30" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Pro156=)" "" "" "0000724015" "00025790" "30" "223" "8" "223" "8" "c.223+8G>A" "r.(=)" "p.(=)" "" "" "0000724015" "00001012" "30" "223" "8" "223" "8" "c.223+8G>A" "r.(=)" "p.(=)" "" "" "0000724016" "00025790" "10" "-15" "0" "-15" "0" "c.-15G>T" "r.(?)" "p.(=)" "" "" "0000724016" "00001012" "10" "-15" "0" "-15" "0" "c.-15G>T" "r.(?)" "p.(=)" "" "" "0000784672" "00001012" "90" "869" "0" "869" "0" "c.869G>A" "r.(?)" "p.(Trp290Ter)" "" "" "0000805695" "00025790" "90" "2357" "1" "2357" "1" "c.2357+1G>A" "r.spl?" "p.?" "" "" "0000805695" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl?" "p.?" "" "" "0000805696" "00025790" "50" "2072" "0" "2072" "0" "c.2072G>A" "r.(?)" "p.(Arg691Gln)" "" "" "0000805696" "00001012" "50" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Arg735Gln)" "" "" "0000805697" "00025790" "50" "1662" "0" "1662" "0" "c.1662G>C" "r.(?)" "p.(Gln554His)" "" "" "0000805697" "00001012" "50" "1794" "0" "1794" "0" "c.1794G>C" "r.(?)" "p.(Gln598His)" "" "" "0000805698" "00025790" "50" "1379" "-2056" "1379" "-2056" "c.1379-2056C>A" "r.(=)" "p.(=)" "" "" "0000805698" "00001012" "50" "1431" "0" "1431" "0" "c.1431C>A" "r.(?)" "p.(His477Gln)" "" "" "0000853379" "00025790" "30" "2260" "0" "2260" "0" "c.2260A>G" "r.(?)" "p.(Thr754Ala)" "" "" "0000853379" "00001012" "30" "2392" "0" "2392" "0" "c.2392A>G" "r.(?)" "p.(Thr798Ala)" "" "" "0000853380" "00025790" "30" "2070" "0" "2070" "0" "c.2070C>G" "r.(?)" "p.(Thr690=)" "" "" "0000853380" "00001012" "30" "2202" "0" "2202" "0" "c.2202C>G" "r.(?)" "p.(Thr734=)" "" "" "0000853381" "00025790" "30" "2019" "0" "2019" "0" "c.2019G>A" "r.(?)" "p.(Pro673=)" "" "" "0000853381" "00001012" "30" "2151" "0" "2151" "0" "c.2151G>A" "r.(?)" "p.(Pro717=)" "" "" "0000853383" "00025790" "50" "1379" "-2033" "1379" "-2033" "c.1379-2033G>A" "r.(=)" "p.(=)" "" "" "0000853383" "00001012" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Gly485Glu)" "" "" "0000853384" "00025790" "50" "1379" "-2072" "1379" "-2072" "c.1379-2072C>T" "r.(=)" "p.(=)" "" "" "0000853384" "00001012" "50" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Pro472Leu)" "" "" "0000853385" "00025790" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "" "0000853385" "00001012" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Ala324=)" "" "" "0000853386" "00025790" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ala309=)" "" "" "0000853386" "00001012" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ala309=)" "" "" "0000853387" "00025790" "30" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Tyr194=)" "" "" "0000853387" "00001012" "30" "582" "0" "582" "0" "c.582T>C" "r.(?)" "p.(Tyr194=)" "" "" "0000853388" "00025790" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "" "" "0000853388" "00001012" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "" "" "0000853389" "00025790" "10" "300" "0" "300" "0" "c.300C>A" "r.(?)" "p.(Gly100=)" "" "" "0000853389" "00001012" "10" "300" "0" "300" "0" "c.300C>A" "r.(?)" "p.(Gly100=)" "" "" "0000853390" "00025790" "50" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Ser)" "" "" "0000853390" "00001012" "50" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Leu92Ser)" "" "" "0000853391" "00025790" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ser71=)" "" "" "0000853391" "00001012" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ser71=)" "" "" "0000853392" "00025790" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50SerfsTer61)" "" "" "0000853392" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50SerfsTer61)" "" "" "0000862963" "00025790" "10" "2263" "0" "2263" "0" "c.2263T>C" "r.(?)" "p.(Leu755=)" "" "" "0000862963" "00001012" "10" "2395" "0" "2395" "0" "c.2395T>C" "r.(?)" "p.(Leu799=)" "" "" "0000862964" "00025790" "30" "2019" "0" "2019" "0" "c.2019G>A" "r.(?)" "p.(Pro673=)" "" "" "0000862964" "00001012" "30" "2151" "0" "2151" "0" "c.2151G>A" "r.(?)" "p.(Pro717=)" "" "" "0000862965" "00025790" "30" "2001" "0" "2001" "0" "c.2001C>T" "r.(?)" "p.(Ala667=)" "" "" "0000862965" "00001012" "30" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Ala711=)" "" "" "0000862966" "00025790" "50" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "" "" "0000862966" "00001012" "50" "2084" "0" "2084" "0" "c.2084G>A" "r.(?)" "p.(Arg695His)" "" "" "0000862967" "00025790" "90" "1556" "1" "1556" "1" "c.1556+1G>A" "r.spl?" "p.?" "" "" "0000862967" "00001012" "90" "1688" "1" "1688" "1" "c.1688+1G>A" "r.spl?" "p.?" "" "" "0000862968" "00025790" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "" "" "0000862968" "00001012" "50" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413Gln)" "" "" "0000862969" "00025790" "30" "360" "0" "360" "0" "c.360A>G" "r.(?)" "p.(Glu120=)" "" "" "0000862969" "00001012" "30" "360" "0" "360" "0" "c.360A>G" "r.(?)" "p.(Glu120=)" "" "" "0000878894" "00001012" "90" "12" "0" "12" "0" "c.12del" "r.(?)" "p.(Gly5Alafs*34)" "12" "" "0000878895" "00001012" "90" "-9" "0" "-9" "0" "c.-9del" "r.(?)" "p.?" "" "" "0000878900" "00001012" "90" "962" "0" "962" "0" "c.962del" "r.(?)" "p.(Val321Alafs*31)" "3" "" "0000881216" "00001012" "70" "2431" "0" "2431" "0" "c.2431C>T" "r.(?)" "p.(Arg811Cys)" "" "" "0000890531" "00025790" "50" "2438" "0" "2438" "0" "c.2438A>T" "r.(?)" "p.(Tyr813Phe)" "" "" "0000890531" "00001012" "50" "2570" "0" "2570" "0" "c.2570A>T" "r.(?)" "p.(Tyr857Phe)" "" "" "0000890532" "00025790" "30" "2355" "0" "2355" "0" "c.2355T>C" "r.(?)" "p.(Asp785=)" "" "" "0000890532" "00001012" "30" "2487" "0" "2487" "0" "c.2487T>C" "r.(?)" "p.(Asp829=)" "" "" "0000890533" "00025790" "30" "2302" "0" "2302" "0" "c.2302G>A" "r.(?)" "p.(Asp768Asn)" "" "" "0000890533" "00001012" "30" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Asp812Asn)" "" "" "0000890534" "00025790" "50" "2228" "0" "2228" "0" "c.2228T>C" "r.(?)" "p.(Leu743Pro)" "" "" "0000890534" "00001012" "50" "2360" "0" "2360" "0" "c.2360T>C" "r.(?)" "p.(Leu787Pro)" "" "" "0000890535" "00025790" "50" "2160" "0" "2160" "0" "c.2160T>A" "r.(?)" "p.(Asn720Lys)" "" "" "0000890535" "00001012" "50" "2292" "0" "2292" "0" "c.2292T>A" "r.(?)" "p.(Asn764Lys)" "" "" "0000890536" "00025790" "90" "2014" "-1" "2014" "-1" "c.2014-1G>C" "r.spl?" "p.?" "" "" "0000890536" "00001012" "90" "2146" "-1" "2146" "-1" "c.2146-1G>C" "r.spl?" "p.?" "" "" "0000890537" "00025790" "50" "1951" "0" "1951" "0" "c.1951C>T" "r.(?)" "p.(Arg651Cys)" "" "" "0000890537" "00001012" "50" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "" "0000890538" "00025790" "70" "1557" "-1" "1557" "-1" "c.1557-1G>C" "r.spl?" "p.?" "" "" "0000890538" "00001012" "70" "1689" "-1" "1689" "-1" "c.1689-1G>C" "r.spl?" "p.?" "" "" "0000890539" "00025790" "10" "1509" "0" "1509" "0" "c.1509T>C" "r.(?)" "p.(Asn503=)" "" "" "0000890539" "00001012" "10" "1641" "0" "1641" "0" "c.1641T>C" "r.(?)" "p.(Asn547=)" "" "" "0000890540" "00025790" "50" "1483" "0" "1483" "0" "c.1483C>G" "r.(?)" "p.(Pro495Ala)" "" "" "0000890540" "00001012" "50" "1615" "0" "1615" "0" "c.1615C>G" "r.(?)" "p.(Pro539Ala)" "" "" "0000890541" "00025790" "30" "1444" "0" "1444" "0" "c.1444A>G" "r.(?)" "p.(Thr482Ala)" "" "" "0000890541" "00001012" "30" "1576" "0" "1576" "0" "c.1576A>G" "r.(?)" "p.(Thr526Ala)" "" "" "0000890542" "00025790" "50" "1379" "-1972" "1379" "-1972" "c.1379-1972G>A" "r.(=)" "p.(=)" "" "" "0000890542" "00001012" "50" "1510" "5" "1510" "5" "c.1510+5G>A" "r.spl?" "p.?" "" "" "0000890543" "00025790" "30" "1379" "-1990" "1379" "-1990" "c.1379-1990G>T" "r.(=)" "p.(=)" "" "" "0000890543" "00001012" "30" "1497" "0" "1497" "0" "c.1497G>T" "r.(?)" "p.(Gln499His)" "" "" "0000890544" "00025790" "10" "1379" "-2005" "1379" "-2005" "c.1379-2005A>G" "r.(=)" "p.(=)" "" "" "0000890544" "00001012" "10" "1482" "0" "1482" "0" "c.1482A>G" "r.(?)" "p.(Ser494=)" "" "" "0000890545" "00025790" "50" "1190" "0" "1190" "0" "c.1190T>A" "r.(?)" "p.(Ile397Asn)" "" "" "0000890545" "00001012" "50" "1190" "0" "1190" "0" "c.1190T>A" "r.(?)" "p.(Ile397Asn)" "" "" "0000890546" "00025790" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Arg)" "" "" "0000890546" "00001012" "50" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Gly269Arg)" "" "" "0000890547" "00025790" "10" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Ala264Val)" "" "" "0000890547" "00001012" "10" "791" "0" "791" "0" "c.791C>T" "r.(?)" "p.(Ala264Val)" "" "" "0000890548" "00025790" "30" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "" "0000890548" "00001012" "30" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "" "0000890549" "00025790" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0000890549" "00001012" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0000890550" "00025790" "30" "336" "17" "336" "17" "c.336+17T>G" "r.(=)" "p.(=)" "" "" "0000890550" "00001012" "30" "336" "17" "336" "17" "c.336+17T>G" "r.(=)" "p.(=)" "" "" "0000890551" "00025790" "50" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Pro103Ala)" "" "" "0000890551" "00001012" "50" "307" "0" "307" "0" "c.307C>G" "r.(?)" "p.(Pro103Ala)" "" "" "0000890552" "00025790" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ser71=)" "" "" "0000890552" "00001012" "10" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Ser71=)" "" "" "0000890553" "00025790" "50" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Lys37Arg)" "" "" "0000890553" "00001012" "50" "110" "0" "110" "0" "c.110A>G" "r.(?)" "p.(Lys37Arg)" "" "" "0000890554" "00025790" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Thr15=)" "" "" "0000890554" "00001012" "30" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Thr15=)" "" "" "0000909174" "00001012" "70" "1171" "-1" "1688" "1" "c.(1171-8976_1171-1)_(1688+1_1688+8433)del" "r.?" "p.?" "" "" "0000909175" "00001012" "70" "1171" "-1" "1688" "1" "c.(1171-8976_1171-1)_(1688+1_1688+8433)del" "r.?" "p.?" "" "" "0000909176" "00001012" "70" "1171" "-1" "1688" "1" "c.(1171-8976_1171-1)_(1688+1_1688+8433)del" "r.?" "p.?" "" "" "0000909177" "00001012" "70" "1171" "-1" "1688" "1" "c.(1171-8976_1171-1)_(1688+1_1688+8433)del" "r.?" "p.?" "" "" "0000913830" "00025790" "90" "2422" "0" "2422" "0" "c.2422del" "r.(?)" "p.(Glu808AsnfsTer79)" "" "" "0000913830" "00001012" "90" "2554" "0" "2554" "0" "c.2554del" "r.(?)" "p.(Glu852AsnfsTer79)" "" "" "0000913831" "00025790" "30" "1379" "-2003" "1379" "-2003" "c.1379-2003G>C" "r.(=)" "p.(=)" "" "" "0000913831" "00001012" "30" "1484" "0" "1484" "0" "c.1484G>C" "r.(?)" "p.(Gly495Ala)" "" "" "0000913832" "00025790" "30" "1379" "-2038" "1379" "-2038" "c.1379-2038T>C" "r.(=)" "p.(=)" "" "" "0000913832" "00001012" "30" "1449" "0" "1449" "0" "c.1449T>C" "r.(?)" "p.(Thr483=)" "" "" "0000913833" "00025790" "50" "1081" "0" "1081" "0" "c.1081G>C" "r.(?)" "p.(Glu361Gln)" "" "" "0000913833" "00001012" "50" "1081" "0" "1081" "0" "c.1081G>C" "r.(?)" "p.(Glu361Gln)" "" "" "0000913834" "00025790" "50" "954" "0" "954" "0" "c.954C>G" "r.(?)" "p.(His318Gln)" "" "" "0000913834" "00001012" "50" "954" "0" "954" "0" "c.954C>G" "r.(?)" "p.(His318Gln)" "" "" "0000913835" "00025790" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000913835" "00001012" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0000913836" "00025790" "10" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Pro156=)" "" "" "0000913836" "00001012" "10" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(Pro156=)" "" "" "0000925621" "00025790" "30" "2260" "0" "2260" "0" "c.2260A>G" "r.(?)" "p.(Thr754Ala)" "" "" "0000925621" "00001012" "30" "2392" "0" "2392" "0" "c.2392A>G" "r.(?)" "p.(Thr798Ala)" "" "" "0000925622" "00025790" "30" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Met365Val)" "" "" "0000925622" "00001012" "30" "1093" "0" "1093" "0" "c.1093A>G" "r.(?)" "p.(Met365Val)" "" "" "0000925623" "00025790" "50" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Cys)" "" "" "0000925623" "00001012" "50" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Cys)" "" "" "0000925624" "00025790" "90" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Tyr130*)" "" "" "0000925624" "00001012" "90" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Tyr130*)" "" "" "0000930081" "00025790" "50" "2467" "0" "2467" "0" "c.2467T>C" "r.(?)" "p.(Phe823Leu)" "" "" "0000930081" "00001012" "50" "2599" "0" "2599" "0" "c.2599T>C" "r.(?)" "p.(Phe867Leu)" "" "" "0000930082" "00025790" "90" "1902" "0" "1902" "0" "c.1902G>A" "r.(?)" "p.(Trp634Ter)" "" "" "0000930082" "00001012" "90" "2034" "0" "2034" "0" "c.2034G>A" "r.(?)" "p.(Trp678Ter)" "" "" "0000930083" "00025790" "50" "1679" "0" "1679" "0" "c.1679C>T" "r.(?)" "p.(Thr560Met)" "" "" "0000930083" "00001012" "50" "1811" "0" "1811" "0" "c.1811C>T" "r.(?)" "p.(Thr604Met)" "" "" "0000930084" "00025790" "50" "1441" "0" "1441" "0" "c.1441C>G" "r.(?)" "p.(Leu481Val)" "" "" "0000930084" "00001012" "50" "1573" "0" "1573" "0" "c.1573C>G" "r.(?)" "p.(Leu525Val)" "" "" "0000930085" "00025790" "30" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.(Ser358Gly)" "" "" "0000930085" "00001012" "30" "1072" "0" "1072" "0" "c.1072A>G" "r.(?)" "p.(Ser358Gly)" "" "" "0000930086" "00025790" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "" "0000930086" "00001012" "30" "611" "0" "611" "0" "c.611G>A" "r.(?)" "p.(Arg204His)" "" "" "0000930087" "00025790" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Lys)" "" "" "0000930087" "00001012" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Lys)" "" "" "0000949937" "00025790" "10" "2357" "7" "2357" "7" "c.2357+7C>T" "r.(=)" "p.(=)" "" "" "0000949937" "00001012" "10" "2489" "7" "2489" "7" "c.2489+7C>T" "r.(=)" "p.(=)" "" "" "0000949938" "00025790" "90" "2002" "0" "2002" "0" "c.2002G>T" "r.(?)" "p.(Gly668*)" "" "" "0000949938" "00001012" "90" "2134" "0" "2134" "0" "c.2134G>T" "r.(?)" "p.(Gly712*)" "" "" "0000949939" "00025790" "10" "1171" "-19" "1171" "-19" "c.1171-19G>T" "r.(=)" "p.(=)" "" "" "0000949939" "00001012" "10" "1171" "-19" "1171" "-19" "c.1171-19G>T" "r.(=)" "p.(=)" "" "" "0000949941" "00025790" "50" "911" "0" "911" "0" "c.911C>G" "r.(?)" "p.(Ala304Gly)" "" "" "0000949941" "00001012" "50" "911" "0" "911" "0" "c.911C>G" "r.(?)" "p.(Ala304Gly)" "" "" "0000949942" "00025790" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(=)" "" "" "0000949942" "00001012" "10" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(=)" "" "" "0000957843" "00001012" "50" "1114" "0" "1114" "0" "c.1114G>C" "r.(?)" "p.(Ala372Pro)" "" "" "0000959832" "00025790" "50" "2168" "-352" "2168" "-352" "c.2168-352G>A" "r.(?)" "p.(?)" "" "" "0000966876" "00025790" "90" "2357" "1" "2357" "1" "c.2357+1G>A" "r.spl?" "p.?" "" "" "0000966876" "00001012" "90" "2489" "1" "2489" "1" "c.2489+1G>A" "r.spl?" "p.?" "" "" "0000966877" "00025790" "10" "1641" "0" "1641" "0" "c.1641A>G" "r.(?)" "p.(=)" "" "" "0000966877" "00001012" "10" "1773" "0" "1773" "0" "c.1773A>G" "r.(?)" "p.(=)" "" "" "0000966878" "00025790" "10" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(=)" "" "" "0000966878" "00001012" "10" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(=)" "" "" "0000966879" "00025790" "30" "1379" "-2066" "1379" "-2066" "c.1379-2066C>T" "r.(=)" "p.(=)" "" "" "0000966879" "00001012" "30" "1421" "0" "1421" "0" "c.1421C>T" "r.(?)" "p.(Ala474Val)" "" "" "0000966880" "00025790" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000966880" "00001012" "50" "834" "0" "834" "0" "c.834G>T" "r.(?)" "p.(Gln278His)" "" "" "0000966881" "00025790" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000966881" "00001012" "50" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "" "0000980233" "00025790" "50" "2332" "0" "2332" "0" "c.2332A>G" "r.(?)" "p.(Ile778Val)" "" "" "0000980233" "00001012" "50" "2464" "0" "2464" "0" "c.2464A>G" "r.(?)" "p.(Ile822Val)" "" "" "0000980234" "00025790" "30" "1627" "0" "1627" "0" "c.1627G>A" "r.(?)" "p.(Val543Ile)" "" "" "0000980234" "00001012" "30" "1759" "0" "1759" "0" "c.1759G>A" "r.(?)" "p.(Val587Ile)" "" "" "0000980235" "00025790" "30" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000980235" "00001012" "30" "1372" "0" "1372" "0" "c.1372A>G" "r.(?)" "p.(Ile458Val)" "" "" "0000980236" "00025790" "50" "1293" "0" "1293" "0" "c.1293G>T" "r.(?)" "p.(Leu431Phe)" "" "" "0000980236" "00001012" "50" "1293" "0" "1293" "0" "c.1293G>T" "r.(?)" "p.(Leu431Phe)" "" "" "0000980237" "00025790" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000980237" "00001012" "90" "1211" "0" "1211" "0" "c.1211dup" "r.(?)" "p.(Val406SerfsTer4)" "" "" "0000980238" "00025790" "90" "1210" "0" "1210" "0" "c.1210del" "r.(?)" "p.(Leu404*)" "" "" "0000980238" "00001012" "90" "1210" "0" "1210" "0" "c.1210del" "r.(?)" "p.(Leu404*)" "" "" "0000980239" "00025790" "10" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000980239" "00001012" "10" "1012" "0" "1012" "0" "c.1012A>G" "r.(?)" "p.(Thr338Ala)" "" "" "0000980240" "00025790" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Gly314Arg)" "" "" "0000980240" "00001012" "50" "940" "0" "940" "0" "c.940G>A" "r.(?)" "p.(Gly314Arg)" "" "" "0000980241" "00025790" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000980241" "00001012" "90" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Gln133Ter)" "" "" "0000980242" "00025790" "50" "307" "0" "307" "0" "c.307C>A" "r.(?)" "p.(Pro103Thr)" "" "" "0000980242" "00001012" "50" "307" "0" "307" "0" "c.307C>A" "r.(?)" "p.(Pro103Thr)" "" "" "0000980243" "00025790" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000980243" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000980244" "00025790" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50SerfsTer61)" "" "" "0000980244" "00001012" "90" "148" "0" "151" "0" "c.148_151del" "r.(?)" "p.(Thr50SerfsTer61)" "" "" "0000985216" "00025790" "90" "1643" "0" "1643" "0" "c.1643del" "r.(?)" "p.(Gly548GlufsTer64)" "" "" "0000985217" "00025790" "90" "1760" "0" "1760" "0" "c.1760del" "r.(?)" "p.(Tyr587LeufsTer25)" "" "" "0000989338" "00001012" "90" "2197" "0" "2202" "0" "c.2197_2202delinsG" "r.(?)" "p.(His733AlafsTer8)" "" "" "0000989749" "00025790" "90" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Pro105Leufs*7)" "" "" "0000989749" "00001012" "90" "313" "0" "313" "0" "c.313del" "r.(?)" "p.(Pro105Leufs*7)" "" "" "0000989750" "00025790" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000989750" "00001012" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "" "0000989751" "00001012" "50" "1510" "5" "1510" "5" "c.1510+5G>A" "r.spl?" "p.?" "" "" "0000989818" "00025790" "90" "2446" "-1" "2446" "-1" "c.2446-1G>A" "r.spl?" "p.?" "" "" "0000989818" "00001012" "90" "2578" "-1" "2578" "-1" "c.2578-1G>A" "r.spl?" "p.?" "" "" "0000999958" "00025790" "30" "2499" "0" "2499" "0" "c.2499C>A" "r.(?)" "p.(His833Gln)" "" "" "0000999958" "00001012" "30" "2631" "0" "2631" "0" "c.2631C>A" "r.(?)" "p.(His877Gln)" "" "" "0000999959" "00025790" "50" "2357" "5" "2357" "5" "c.2357+5G>A" "r.spl?" "p.?" "" "" "0000999959" "00001012" "50" "2489" "5" "2489" "5" "c.2489+5G>A" "r.spl?" "p.?" "" "" "0000999960" "00025790" "30" "2233" "0" "2233" "0" "c.2233A>G" "r.(?)" "p.(Ile745Val)" "" "" "0000999960" "00001012" "30" "2365" "0" "2365" "0" "c.2365A>G" "r.(?)" "p.(Ile789Val)" "" "" "0000999961" "00025790" "50" "2156" "0" "2156" "0" "c.2156A>G" "r.(?)" "p.(Gln719Arg)" "" "" "0000999961" "00001012" "50" "2288" "0" "2288" "0" "c.2288A>G" "r.(?)" "p.(Gln763Arg)" "" "" "0000999962" "00025790" "30" "1842" "0" "1842" "0" "c.1842A>G" "r.(?)" "p.(=)" "" "" "0000999962" "00001012" "30" "1974" "0" "1974" "0" "c.1974A>G" "r.(?)" "p.(=)" "" "" "0000999963" "00025790" "50" "1840" "-14" "1840" "-14" "c.1840-14T>G" "r.(=)" "p.(=)" "" "" "0000999963" "00001012" "50" "1972" "-14" "1972" "-14" "c.1972-14T>G" "r.(=)" "p.(=)" "" "" "0000999964" "00025790" "50" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Ile550Thr)" "" "" "0000999964" "00001012" "50" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Ile594Thr)" "" "" "0000999965" "00025790" "30" "1379" "-1990" "1379" "-1990" "c.1379-1990G>T" "r.(=)" "p.(=)" "" "" "0000999965" "00001012" "30" "1497" "0" "1497" "0" "c.1497G>T" "r.(?)" "p.(Gln499His)" "" "" "0000999966" "00025790" "70" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "" "" "0000999966" "00001012" "70" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Trp)" "" "" "0000999967" "00025790" "30" "1034" "10" "1034" "10" "c.1034+10C>T" "r.(=)" "p.(=)" "" "" "0000999967" "00001012" "30" "1034" "10" "1034" "10" "c.1034+10C>T" "r.(=)" "p.(=)" "" "" "0000999968" "00025790" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Ser337Asn)" "" "" "0000999968" "00001012" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Ser337Asn)" "" "" "0000999969" "00025790" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250His)" "" "" "0000999969" "00001012" "30" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250His)" "" "" "0000999970" "00025790" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000999970" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0000999971" "00025790" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(=)" "" "" "0000999971" "00001012" "30" "171" "0" "171" "0" "c.171G>A" "r.(?)" "p.(=)" "" "" "0001007498" "00001012" "90" "2198" "0" "2202" "0" "c.2198_2202del" "r.(?)" "p.(His733ProfsTer8)" "" "" "0001007499" "00001012" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Ter)" "" "" "0001007500" "00001012" "70" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Gln57Ter)" "" "" "0001014961" "00025790" "50" "2159" "0" "2159" "0" "c.2159A>G" "r.(?)" "p.(Asn720Ser)" "" "" "0001014961" "00001012" "50" "2291" "0" "2291" "0" "c.2291A>G" "r.(?)" "p.(Asn764Ser)" "" "" "0001014962" "00025790" "90" "1625" "0" "1626" "0" "c.1625_1626insCTACT" "r.(?)" "p.(Val543Tyrfs*71)" "" "" "0001014962" "00001012" "90" "1757" "0" "1758" "0" "c.1757_1758insCTACT" "r.(?)" "p.(Val587Tyrfs*71)" "" "" "0001014963" "00025790" "10" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ala309=)" "" "" "0001014963" "00001012" "10" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ala309=)" "" "" "0001014964" "00025790" "10" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0001014964" "00001012" "10" "714" "0" "714" "0" "c.714G>A" "r.(?)" "p.(Pro238=)" "" "" "0001014965" "00025790" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0001014965" "00001012" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Arg219Gly)" "" "" "0001014966" "00025790" "50" "634" "0" "634" "0" "c.634C>A" "r.(?)" "p.(Arg212Ser)" "" "" "0001014966" "00001012" "50" "634" "0" "634" "0" "c.634C>A" "r.(?)" "p.(Arg212Ser)" "" "" "0001014967" "00025790" "10" "306" "0" "306" "0" "c.306C>A" "r.(?)" "p.(Ser102=)" "" "" "0001014967" "00001012" "10" "306" "0" "306" "0" "c.306C>A" "r.(?)" "p.(Ser102=)" "" "" "0001014968" "00025790" "70" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Gln19*)" "" "" "0001014968" "00001012" "70" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Gln19*)" "" "" "0001016076" "00025790" "50" "1537" "0" "1537" "0" "c.1537A>G" "r.(?)" "p.(Asn513Asp)" "" "" "0001026168" "00025790" "50" "2372" "0" "2372" "0" "c.2372A>G" "r.(?)" "p.(Lys791Arg)" "" "" "0001026168" "00001012" "50" "2504" "0" "2504" "0" "c.2504A>G" "r.(?)" "p.(Lys835Arg)" "" "" "0001026169" "00025790" "90" "2357" "5" "2357" "5" "c.2357+5G>A" "r.spl?" "p.?" "" "" "0001026169" "00001012" "90" "2489" "5" "2489" "5" "c.2489+5G>A" "r.spl?" "p.?" "" "" "0001026170" "00025790" "50" "2305" "0" "2305" "0" "c.2305C>T" "r.(?)" "p.(Leu769Phe)" "" "" "0001026170" "00001012" "50" "2437" "0" "2437" "0" "c.2437C>T" "r.(?)" "p.(Leu813Phe)" "" "" "0001026171" "00025790" "90" "1382" "0" "1382" "0" "c.1382del" "r.(?)" "p.(Leu461Cysfs*15)" "" "" "0001026171" "00001012" "90" "1514" "0" "1514" "0" "c.1514del" "r.(?)" "p.(Leu505Cysfs*15)" "" "" "0001026172" "00025790" "50" "1379" "-1990" "1379" "-1990" "c.1379-1990G>T" "r.(=)" "p.(=)" "" "" "0001026172" "00001012" "50" "1497" "0" "1497" "0" "c.1497G>T" "r.(?)" "p.(Gln499His)" "" "" "0001026173" "00025790" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Pro306=)" "" "" "0001026173" "00001012" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Pro306=)" "" "" "0001026174" "00025790" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "" "0001026174" "00001012" "50" "788" "0" "788" "0" "c.788C>T" "r.(?)" "p.(Thr263Met)" "" "" "0001026175" "00025790" "50" "647" "0" "647" "0" "c.647C>A" "r.(?)" "p.(Thr216Lys)" "" "" "0001026175" "00001012" "50" "647" "0" "647" "0" "c.647C>A" "r.(?)" "p.(Thr216Lys)" "" "" "0001026176" "00025790" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0001026176" "00001012" "30" "505" "0" "505" "0" "c.505A>G" "r.(?)" "p.(Ser169Gly)" "" "" "0001039201" "00025790" "50" "2483" "0" "2483" "0" "c.2483C>T" "r.(?)" "p.(Thr828Ile)" "" "" "0001039201" "00001012" "50" "2615" "0" "2615" "0" "c.2615C>T" "r.(?)" "p.(Thr872Ile)" "" "" "0001039202" "00025790" "10" "2167" "7" "2167" "7" "c.2167+7C>T" "r.(=)" "p.(=)" "" "" "0001039202" "00001012" "10" "2299" "7" "2299" "7" "c.2299+7C>T" "r.(=)" "p.(=)" "" "" "0001039203" "00025790" "50" "1379" "0" "1379" "0" "c.1379G>A" "r.(?)" "p.(Gly460Asp)" "" "" "0001039203" "00001012" "50" "1511" "0" "1511" "0" "c.1511G>A" "r.(?)" "p.(Gly504Asp)" "" "" "0001039204" "00025790" "30" "1379" "-1972" "1379" "-1972" "c.1379-1972G>A" "r.(=)" "p.(=)" "" "" "0001039204" "00001012" "30" "1510" "5" "1510" "5" "c.1510+5G>A" "r.spl?" "p.?" "" "" "0001039205" "00025790" "30" "1379" "-1985" "1379" "-1985" "c.1379-1985A>G" "r.(=)" "p.(=)" "" "" "0001039205" "00001012" "30" "1502" "0" "1502" "0" "c.1502A>G" "r.(?)" "p.(Asp501Gly)" "" "" "0001039206" "00025790" "30" "1379" "-2000" "1379" "-2000" "c.1379-2000T>A" "r.(=)" "p.(=)" "" "" "0001039206" "00001012" "30" "1487" "0" "1487" "0" "c.1487T>A" "r.(?)" "p.(Val496Asp)" "" "" "0001039207" "00025790" "30" "825" "0" "825" "0" "c.825G>C" "r.(?)" "p.(=)" "" "" "0001039207" "00001012" "30" "825" "0" "825" "0" "c.825G>C" "r.(?)" "p.(=)" "" "" "0001039208" "00025790" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0001039208" "00001012" "30" "76" "0" "76" "0" "c.76G>A" "r.(?)" "p.(Asp26Asn)" "" "" "0001045107" "00025790" "70" "2168" "-1" "2168" "-1" "c.2168-1G>A" "r.(?)" "p.(?)" "" "" "0001046375" "00025790" "50" "1820" "0" "1820" "0" "c.1820G>A" "r.(?)" "p.(Arg607Gln)" "" "" "0001046375" "00001012" "50" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651Gln)" "" "" "0001046376" "00025790" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "" "0001046376" "00001012" "30" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101His)" "" "" "0001054276" "00025790" "50" "2168" "-9" "2168" "-9" "c.2168-9A>C" "r.(=)" "p.(=)" "" "" "0001054276" "00001012" "50" "2300" "-9" "2300" "-9" "c.2300-9A>C" "r.(=)" "p.(=)" "" "" "0001054277" "00025790" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0001054277" "00001012" "10" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Glu58Asp)" "" "" "0001059018" "00001012" "90" "1643" "0" "1643" "0" "c.1643del" "r.(?)" "p.(Gly548ValfsTer15)" "" "" "0001060680" "00001012" "70" "337" "-2" "337" "-2" "c.337-2A>T" "r.337_1034del" "p.Ala113GlufsTer41" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 501 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005126" "0000000210" "0000013069" "0000016312" "0000036107" "0000029017" "0000052352" "0000029019" "0000052358" "0000029025" "0000052367" "0000029028" "0000052370" "0000029034" "0000089005" "0000058430" "0000089000" "0000058432" "0000088995" "0000064164" "0000095128" "0000064165" "0000095130" "0000064167" "0000095132" "0000064167" "0000095133" "0000064168" "0000095134" "0000064212" "0000095226" "0000064218" "0000095249" "0000064227" "0000095285" "0000064248" "0000095354" "0000064282" "0000095488" "0000064294" "0000095528" "0000064296" "0000095535" "0000064334" "0000095662" "0000064856" "0000096507" "0000064869" "0000096522" "0000064877" "0000096531" "0000064901" "0000096556" "0000073886" "0000117649" "0000073887" "0000117650" "0000100843" "0000163237" "0000100844" "0000163236" "0000101847" "0000164589" "0000101851" "0000164593" "0000101857" "0000164599" "0000101866" "0000164608" "0000101867" "0000164609" "0000101870" "0000164612" "0000101881" "0000164623" "0000101882" "0000164624" "0000101884" "0000164626" "0000101885" "0000164627" "0000101888" "0000164630" "0000101890" "0000164632" "0000101892" "0000164634" "0000101894" "0000164636" "0000101895" "0000164637" "0000129274" "0000218426" "0000129312" "0000218479" "0000129326" "0000218499" "0000144628" "0000235438" "0000155817" "0000356898" "0000155820" "0000356901" "0000164754" "0000368343" "0000181846" "0000405542" "0000208997" "0000439062" "0000210155" "0000442383" "0000210247" "0000442384" "0000210286" "0000442385" "0000210286" "0000442386" "0000210294" "0000442387" "0000210295" "0000442388" "0000210305" "0000442395" "0000210415" "0000442389" "0000210415" "0000442390" "0000210471" "0000442391" "0000210492" "0000442392" "0000210493" "0000442393" "0000210497" "0000442394" "0000210498" "0000441999" "0000210676" "0000442053" "0000210677" "0000442054" "0000210678" "0000442055" "0000210679" "0000442056" "0000210680" "0000442057" "0000210681" "0000442058" "0000210682" "0000442059" "0000210683" "0000442060" "0000210684" "0000442061" "0000210685" "0000442062" "0000210686" "0000442063" "0000210686" "0000442064" "0000210687" "0000442065" "0000210688" "0000442066" "0000210689" "0000442067" "0000210690" "0000442068" "0000210691" "0000442069" "0000210692" "0000442070" "0000210693" "0000442071" "0000210694" "0000442072" "0000210695" "0000442073" "0000210696" "0000442074" "0000210697" "0000442075" "0000210698" "0000442076" "0000210699" "0000442077" "0000210700" "0000442078" "0000210701" "0000442079" "0000210702" "0000442080" "0000210703" "0000442081" "0000210704" "0000442082" "0000210705" "0000442083" "0000210706" "0000442084" "0000210707" "0000442085" "0000210708" "0000442086" "0000210709" "0000442087" "0000210710" "0000442088" "0000210710" "0000442089" "0000210711" "0000442090" "0000210712" "0000442091" "0000210713" "0000442092" "0000210714" "0000442093" "0000210715" "0000442094" "0000210716" "0000442095" "0000210717" "0000442096" "0000210718" "0000442097" "0000210719" "0000442098" "0000210720" "0000442099" "0000210721" "0000442100" "0000210722" "0000442101" "0000210723" "0000442102" "0000210724" "0000442103" "0000210725" "0000442104" "0000210726" "0000442105" "0000210727" "0000442106" "0000210728" "0000442107" "0000210729" "0000442108" "0000210730" "0000442109" "0000210731" "0000442110" "0000210732" "0000442111" "0000210733" "0000442112" "0000210734" "0000442113" "0000210735" "0000442114" "0000210736" "0000442115" "0000210737" "0000442116" "0000210738" "0000442117" "0000210739" "0000442118" "0000210740" "0000442119" "0000210741" "0000442120" "0000210742" "0000442121" "0000210743" "0000442122" "0000210744" "0000442123" "0000210745" "0000442124" "0000210746" "0000442125" "0000210747" "0000442126" "0000210748" "0000442127" 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