### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DSG2) # 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}}" "DSG2" "desmoglein 2" "18" "q12.1" "unknown" "LRG_397" "UD_132119159710" "" "https://www.LOVD.nl/DSG2" "ARVD/C genetic variants database " "1" "3049" "1829" "125671" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DSG2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-01-22 00:00:00" "00006" "2018-12-23 12:09:38" "00000" "2023-07-07 10:10:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006717" "DSG2" "desmoglein 2" "001" "NM_001943.3" "" "NP_001934.2" "" "" "" "-188" "5465" "3357" "29078027" "29128814" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00118" "BRGDA1" "Brugada syndrome, type 1 (BRGDA-1)" "AD" "601144" "" "" "" "00001" "2013-03-14 10:02:00" "00006" "2021-12-10 21:51:32" "00140" "HLHS2" "heart, hypoplastic left, syndrome, type 2 (HLHS-2)" "AD" "614435" "" "" "" "00008" "2013-06-10 12:06:23" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "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" "00946" "-" "cardiomyopathy, hypertrophic, early-onset fatal" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01467" "HNPP" "neuropathy, hereditary, with liability pressure palsies (HNPP)" "AD" "162500" "" "" "" "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" "02308" "-" "CPT II deficiency, infantile" "AR" "600649" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02912" "ARVD10" "dysplasia, ventricular, right, arrhythmogenic, type 10 (ARVD-10)" "AD" "610193" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03199" "CMD1BB" "cardiomyopathy, dilated, type 1BB (CMD-1BB)" "" "612877" "" "" "" "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" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DSG2" "02912" "DSG2" "03199" ## Individuals ## Do not remove or alter this header ## ## Count = 237 "{{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}}" "00028990" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">40y" "0" "" "" "white" "" "00028999" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Spain" ">23y" "0" "" "" "European" "" "00029000" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Spain" ">38y" "0" "" "" "European" "" "00043783" "" "" "00043766" "1" "" "01337" "{PMID:Hertz 2015:26350513}, {DOI:Hertz 2015:10.1038/ejhg.2015.198}" "" "M" "?" "Denmark" "00y06m" "0" "" "" "Denmark" "" "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" "" "" "" "" "00064034" "" "" "" "1" "" "00006" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "3-generation family, 2 affecteds (2M), 2 suspected (2M)" "M" "" "" "" "0" "" "" "" "" "00064073" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064081" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064092" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064097" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064117" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064123" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064164" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064180" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064190" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064218" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064267" "" "" "" "2" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064702" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "01y" "0" "" "" "" "" "00064725" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "25y" "0" "" "" "" "" "00128368" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "37" "00128395" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "93" "00128416" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "142" "00128451" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "217" "00128468" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "250" "00170818" "" "" "" "1" "" "02529" "" "" "F" "?" "Italy" "47y" "0" "" "" "white" "02529" "00209065" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209066" "" "" "" "0" "" "02140" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209156" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209157" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209158" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209159" "" "" "" "5" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209160" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209161" "" "" "" "2" "" "00802" "{PMID:Awad:16773573}" "" "" "" "" "" "0" "" "" "" "" "00209162" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209163" "" "" "" "1" "" "00802" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "20152563-Pat" "00209164" "" "" "" "1" "" "00802" "{PMID:Gandjbakhch:19151369}" "" "" "" "" "" "0" "" "" "" "" "00209165" "" "" "" "1" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209166" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "Susceptibility variation?" "" "" "" "" "0" "" "" "" "" "00209167" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "1 major OR 2 minor TFC" "" "" "" "" "0" "" "" "" "" "00209168" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "1 major OR 2 minor TFC" "" "" "" "" "0" "" "" "" "" "00209169" "" "" "" "1" "" "00802" "{PMID:Pilichou 2006:16505173}, {PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209170" "" "" "" "1" "" "00802" "{PMID:Awad:17041889}, {PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209171" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}" "" "" "" "" "" "0" "" "" "" "" "00209172" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "1 major OR 2 minor TFC" "" "" "" "" "0" "" "" "" "" "00209173" "" "" "" "3" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209174" "" "" "" "6" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209175" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "Classified as polymorphism" "" "" "" "" "0" "" "" "" "" "00209176" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "Classified as polymorphism" "" "" "" "" "0" "" "" "" "" "00209177" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209178" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "Compound heteroygote: p.Pro205Leu and p.Gly1083Ser" "" "" "" "" "0" "" "" "" "" "00209179" "" "" "" "2" "" "00802" "{PMID:Pilichou 2006:16505173}, {PMID:Pilichou 2009:19635863}, escardio.org (ID24&id=4371:Rampazzo}" "Transgenic mice overexpressing the mouse homologue of the DSG2-N266S mutation recapitulate the pathognomonic features of the human disease, including sudden death, spontaneous ventricular arrhythmias, ECG characteristics of conduction slowing, cardiac dysfunction, ventricular dilatation and aneurysms, myocardial atrophy, and fibrosis." "" "" "" "" "0" "" "" "" "" "00209180" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209181" "" "" "" "3" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209182" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209183" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209184" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209185" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "Homozygous mutation carrier" "" "" "" "" "0" "" "" "" "" "00209186" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "Compound heterozygote: p.Asn330Asp and c.1423+1G>T" "" "" "" "" "0" "" "" "" "" "00209187" "" "" "" "2" "" "00802" "{PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371)" "Compound heterozygote: p.Glu331Lys and c.1881-2A>G" "" "" "" "" "0" "" "" "" "" "00209188" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209189" "" "" "" "1" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209190" "" "" "" "1" "" "00802" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "20152563-Pat18" "00209191" "" "" "" "1" "" "00802" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209192" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}" "" "" "" "" "" "0" "" "" "" "" "00209193" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209194" "" "" "" "1" "" "00802" "{PMID:Awad:16773573}" "" "" "" "" "" "0" "" "" "" "" "00209195" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209196" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209197" "" "" "" "1" "" "00802" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209198" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}" "" "" "" "" "" "0" "" "" "" "" "00209199" "" "" "" "3" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209200" "" "" "" "1" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "Left dominant arrhythmogenic cardiomyopathy (LDAC)" "" "" "" "" "0" "" "" "" "" "00209201" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209202" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209203" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}" "" "" "" "" "" "0" "" "" "" "" "00209204" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209205" "" "" "" "1" "" "00802" "{PMID:Milting:18813333}" "" "" "" "" "" "0" "" "" "" "" "00209206" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209207" "" "" "" "1" "" "00802" "{PMID:Awad:16773573}" "Diagnosis established during postmortem autopsy" "" "" "" "" "0" "" "" "" "" "00209208" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209209" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209210" "" "" "" "1" "" "00802" "{PMID:Syrris:17105751}" "" "" "" "" "" "0" "" "" "" "" "00209211" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "No segregation" "" "" "" "" "0" "" "" "" "" "00209212" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209213" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" "" "00209214" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209215" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209216" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209217" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209218" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209219" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209220" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209221" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209222" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209223" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209224" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209225" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209226" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209227" "" "" "" "1" "" "00802" "{PMID:Asimaki:19279339}" "" "" "" "" "" "0" "" "" "" "" "00209228" "" "" "" "1" "" "00802" "{PMID:Asimaki:19279339}" "SCD at age 15" "" "" "" "" "0" "" "" "" "" "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" "00209230" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" "" "00209231" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209232" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209233" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "" "" "" "" "" "0" "" "" "" "" "00209234" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209235" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209236" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209237" "" "" "" "2" "" "00802" "{PMID:den Haan:20031617}" "Digenic in one patient" "" "" "" "" "0" "" "" "" "" "00209238" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}, {PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209239" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209240" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209241" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209242" "" "" "" "1" "" "00802" "" "Found once in 230 patients" "" "" "" "" "0" "" "" "" "" "00209243" "" "" "" "1" "" "00802" "" "Found once in 230 patients" "" "" "" "" "0" "" "" "" "" "00209244" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209245" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209246" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209247" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209248" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209249" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209250" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209251" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209252" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209253" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209254" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209255" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209256" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209257" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209258" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209259" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209260" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209261" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209262" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209263" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209264" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209265" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209266" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209267" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209268" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209269" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209270" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209271" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209272" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209273" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209274" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209275" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209276" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209277" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209278" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209279" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209280" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209281" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209282" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209283" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209284" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209285" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209286" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209287" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209288" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209289" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209290" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209291" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209292" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209293" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209294" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209295" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209296" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209297" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209298" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209299" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209300" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209301" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209302" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209303" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209304" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209305" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209306" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209307" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209308" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209309" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209310" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209311" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209312" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209313" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209314" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209315" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209316" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209317" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209318" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209319" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209320" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209321" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209322" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209323" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209324" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209325" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209326" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209327" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209328" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209329" "" "" "" "0" "" "02140" "{PMID:Awad et al.:16773573}, {PMID:den Haan et al.:20031617}, {PMID:Bhuiyan et al.:20031616}" "" "" "" "" "" "0" "" "" "" "" "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" "00209997" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat04" "00219408" "" "" "" "1" "" "00006" "{PMID:Ploski 2014:24436435}" "2-generation family, unaffected heterozygous carrier mother/son" "F;M" "" "Poland" "" "0" "" "" "" "24436435-Fam" "00291932" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291933" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291934" "" "" "" "52" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296708" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "white" "NCG_00370" "00302919" "" "" "" "1" "" "01164" "" "patient deceased sudden death, post-mortem analysis" "?" "?" "Germany" "" "0" "" "" "" "155461" "00304621" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304622" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305356" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "161727" "00305357" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "159421" "00305358" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "76835" "00305359" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "162067" "00316826" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316967" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316968" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316969" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316970" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316971" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316972" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316973" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316974" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316975" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316976" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316977" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316978" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316979" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316980" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316981" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317730" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317731" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00320295" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "BBP1" "00329013" "" "" "" "1" "" "01164" "" "submission for publication Schoen et al.; 2021: sudden unexplained death" "?" "?" "" "" "0" "" "" "" "155460" "00374648" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2397" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 230 "{{individualid}}" "{{diseaseid}}" "00028990" "04170" "00028999" "04170" "00029000" "00118" "00043783" "02087" "00064033" "05158" "00064034" "05158" "00064073" "00351" "00064081" "00351" "00064092" "00351" "00064097" "00351" "00064117" "00351" "00064123" "00351" "00064164" "00351" "00064180" "00351" "00064190" "00351" "00064218" "00351" "00064267" "00351" "00064702" "05166" "00064725" "05166" "00128368" "00198" "00128395" "00198" "00128416" "00198" "00128451" "00198" "00128468" "00198" "00170818" "00140" "00209065" "05099" "00209066" "05158" "00209156" "00198" "00209157" "00198" "00209158" "00198" "00209159" "05099" "00209160" "05099" "00209161" "05099" "00209162" "05099" "00209163" "05099" "00209164" "05099" "00209165" "05099" "00209166" "00352" "00209167" "05099" "00209168" "05099" "00209169" "05099" "00209170" "05099" "00209171" "05099" "00209172" "05099" "00209173" "05099" "00209174" "05099" "00209175" "00198" "00209176" "00198" "00209177" "00198" "00209178" "05099" "00209179" "05099" "00209180" "00198" "00209181" "05099" "00209182" "00198" "00209183" "05099" "00209184" "00198" "00209185" "05099" "00209186" "05099" "00209187" "05099" "00209188" "00198" "00209189" "05099" "00209190" "05099" "00209191" "05099" "00209192" "05099" "00209193" "05099" "00209194" "05099" "00209195" "05099" "00209196" "00198" "00209197" "05099" "00209198" "05099" "00209199" "05099" "00209200" "04172" "00209201" "05099" "00209202" "00198" "00209203" "05099" "00209204" "05099" "00209205" "00198" "00209206" "00198" "00209207" "05099" "00209208" "00198" "00209209" "05099" "00209210" "05099" "00209211" "00352" "00209212" "05099" "00209213" "00198" "00209214" "00198" "00209215" "00198" "00209216" "00198" "00209217" "00198" "00209218" "00198" "00209219" "00198" "00209220" "00198" "00209221" "00198" "00209222" "00198" "00209223" "00198" "00209224" "00198" "00209225" "00198" "00209226" "00198" "00209227" "05099" "00209228" "05099" "00209229" "05099" "00209230" "05099" "00209231" "05099" "00209232" "05099" "00209233" "05099" "00209234" "05099" "00209235" "05099" "00209236" "05099" "00209237" "05099" "00209238" "05099" "00209239" "00198" "00209240" "00198" "00209241" "00198" "00209242" "00198" "00209243" "00198" "00209244" "05099" "00209245" "05099" "00209246" "05099" "00209254" "00198" "00209255" "00198" "00209256" "00198" "00209257" "00198" "00209258" "00198" "00209259" "00198" "00209260" "00198" "00209261" "00198" "00209262" "00198" "00209263" "00198" "00209264" "00198" "00209265" "00198" "00209266" "00198" "00209267" "00198" "00209268" "00198" "00209269" "00198" "00209270" "00198" "00209271" "00198" "00209272" "00198" "00209273" "00198" "00209274" "00198" "00209275" "00198" "00209276" "00198" "00209277" "00198" "00209278" "00198" "00209279" "00198" "00209280" "00198" "00209281" "00198" "00209282" "00198" "00209283" "00198" "00209284" "00198" "00209285" "00198" "00209286" "00198" "00209287" "00198" "00209288" "00198" "00209289" "00198" "00209290" "00198" "00209291" "00198" "00209292" "00198" "00209293" "00198" "00209294" "00198" "00209295" "00198" "00209296" "00198" "00209297" "00198" "00209298" "00198" "00209299" "00198" "00209300" "00198" "00209301" "00198" "00209302" "00198" "00209303" "00198" "00209304" "00198" "00209305" "00198" "00209306" "00198" "00209307" "00198" "00209308" "00198" "00209309" "00198" "00209310" "00198" "00209311" "00198" "00209312" "00198" "00209313" "00198" "00209314" "00198" "00209315" "00198" "00209316" "00198" "00209317" "00198" "00209318" "00198" "00209319" "00198" "00209320" "00198" "00209321" "00198" "00209322" "00198" "00209323" "00198" "00209324" "00198" "00209325" "00198" "00209326" "00198" "00209327" "00198" "00209328" "00198" "00209328" "05158" "00209989" "05099" "00209990" "05099" "00209997" "05099" "00219408" "00198" "00291932" "00198" "00291933" "00198" "00291934" "00198" "00296708" "00198" "00302919" "00946" "00304621" "00198" "00304622" "00198" "00305356" "00000" "00305357" "01467" "00305358" "04312" "00305359" "02308" "00316826" "04172" "00316967" "04172" "00316968" "04172" "00316969" "04172" "00316970" "04172" "00316971" "04172" "00316972" "04172" "00316973" "04172" "00316974" "04172" "00316975" "04172" "00316976" "04172" "00316977" "04172" "00316978" "04172" "00316979" "04172" "00316980" "04172" "00316981" "04172" "00317730" "04172" "00317731" "04172" "00320295" "04172" "00329013" "02087" "00374648" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00118, 00140, 00198, 00351, 00352, 00946, 01467, 02087, 02308, 02912, 03199, 04170, 04172, 04312, 05099, 05158, 05166 ## Count = 222 "{{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}}" "0000050551" "05158" "00064033" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050552" "05158" "00064034" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050589" "00351" "00064073" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050597" "00351" "00064081" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050608" "00351" "00064092" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050613" "00351" "00064097" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050633" "00351" "00064117" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050639" "00351" "00064123" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050680" "00351" "00064164" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050696" "00351" "00064180" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050706" "00351" "00064190" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050734" "00351" "00064218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050783" "00351" "00064267" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050830" "02087" "00043783" "01337" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053230" "05166" "00064702" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053252" "05166" "00064725" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100585" "00198" "00128368" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100611" "00198" "00128395" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100634" "00198" "00128416" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100670" "00198" "00128451" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100690" "00198" "00128468" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000135678" "00140" "00170818" "02529" "Familial, autosomal dominant" "05y" "recurrent miscarriage, atrial fibrillation, atrial flutter, left ventricular noncompaction, Brugada syndrome" "00y" "47y" "5y" "" "" "" "" "" "Atrial flutter + left ventricular noncompaction + Brugada syndrome" "HLHS-2" "" "0000157671" "05099" "00209065" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "0000157672" "05158" "00209066" "02140" "Unknown" "" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "" "" "" "ARVD-11" "arrhythmogenic right ventricular cardiomyopathy" "" "0000157762" "00198" "00209156" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157763" "00198" "00209157" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157764" "00198" "00209158" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157765" "05099" "00209159" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157766" "05099" "00209160" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative (1 major and 1 minor TFC )" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157767" "05099" "00209161" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157768" "05099" "00209162" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157769" "05099" "00209163" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157770" "05099" "00209164" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157771" "05099" "00209165" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157772" "00352" "00209166" "00802" "Unknown" "" "dilated cardiomyopathy" "" "" "" "" "" "" "" "" "CMD-1BB" "dilated cardiomyopathy" "" "0000157773" "05099" "00209167" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157774" "05099" "00209168" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157775" "05099" "00209169" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157776" "05099" "00209170" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157777" "05099" "00209171" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157778" "05099" "00209172" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157779" "05099" "00209173" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157780" "05099" "00209174" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157781" "00198" "00209175" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157782" "00198" "00209176" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157783" "00198" "00209177" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157784" "05099" "00209178" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157785" "05099" "00209179" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157786" "00198" "00209180" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157787" "05099" "00209181" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157788" "00198" "00209182" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157789" "05099" "00209183" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157790" "00198" "00209184" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157791" "05099" "00209185" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157792" "05099" "00209186" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157793" "05099" "00209187" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157794" "00198" "00209188" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157795" "05099" "00209189" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157796" "05099" "00209190" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive, reported to have a \'severe\' phenotype" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157797" "05099" "00209191" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157798" "05099" "00209192" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157799" "05099" "00209193" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157800" "05099" "00209194" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157801" "05099" "00209195" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157802" "00198" "00209196" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157803" "05099" "00209197" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157804" "05099" "00209198" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157805" "05099" "00209199" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157806" "04172" "00209200" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "CMD-1BB" "left-dominant arrhythmogenic cardiomyopathy" "" "0000157807" "05099" "00209201" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157808" "00198" "00209202" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157809" "05099" "00209203" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157810" "05099" "00209204" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157811" "00198" "00209205" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157812" "00198" "00209206" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157813" "05099" "00209207" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157814" "00198" "00209208" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157815" "05099" "00209209" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative (1 major OR 2 minor TFC )" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157816" "05099" "00209210" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157817" "00352" "00209211" "00802" "Unknown" "" "dilated cardiomyopathy" "" "" "" "" "" "" "" "" "CMD-1BB" "dilated cardiomyopathy" "" "0000157818" "05099" "00209212" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative (1 major OR 2 minor TFC )" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157819" "00198" "00209213" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157820" "00198" "00209214" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157821" "00198" "00209215" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157822" "00198" "00209216" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157823" "00198" "00209217" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157824" "00198" "00209218" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157825" "00198" "00209219" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157826" "00198" "00209220" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157827" "00198" "00209221" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157828" "00198" "00209222" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157829" "00198" "00209223" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157830" "00198" "00209224" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157831" "00198" "00209225" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157832" "00198" "00209226" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157833" "05099" "00209227" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157834" "05099" "00209228" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157835" "05099" "00209229" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157836" "05099" "00209230" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157837" "05099" "00209231" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157838" "05099" "00209232" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157839" "05099" "00209233" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157840" "05099" "00209234" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157841" "05099" "00209235" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157842" "05099" "00209236" "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" "" "0000157845" "00198" "00209239" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157846" "00198" "00209240" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157847" "00198" "00209241" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157848" "00198" "00209242" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157849" "00198" "00209243" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157850" "05099" "00209244" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157851" "05099" "00209245" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157852" "05099" "00209246" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-10" "ARVD/C" "" "0000157853" "00198" "00209254" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157854" "00198" "00209255" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157855" "00198" "00209256" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157856" "00198" "00209257" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157857" "00198" "00209258" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157858" "00198" "00209259" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157859" "00198" "00209260" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157860" "00198" "00209261" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157861" "00198" "00209262" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157862" "00198" "00209263" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157863" "00198" "00209264" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157864" "00198" "00209265" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157865" "00198" "00209266" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157866" "00198" "00209267" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157867" "00198" "00209268" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157868" "00198" "00209269" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157869" "00198" "00209270" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157870" "00198" "00209271" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157871" "00198" "00209272" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157872" "00198" "00209273" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157873" "00198" "00209274" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157874" "00198" "00209275" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157875" "00198" "00209276" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157876" "00198" "00209277" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157877" "00198" "00209278" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157878" "00198" "00209279" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157879" "00198" "00209280" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157880" "00198" "00209281" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157881" "00198" "00209282" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157882" "00198" "00209283" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157883" "00198" "00209284" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157884" "00198" "00209285" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157885" "00198" "00209286" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157886" "00198" "00209287" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157887" "00198" "00209288" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157888" "00198" "00209289" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157889" "00198" "00209290" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157890" "00198" "00209291" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157891" "00198" "00209292" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157892" "00198" "00209293" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157893" "00198" "00209294" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157894" "00198" "00209295" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157895" "00198" "00209296" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157896" "00198" "00209297" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157897" "00198" "00209298" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157898" "00198" "00209299" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157899" "00198" "00209300" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157900" "00198" "00209301" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157901" "00198" "00209302" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157902" "00198" "00209303" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157903" "00198" "00209304" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157904" "00198" "00209305" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157905" "00198" "00209306" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157906" "00198" "00209307" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157907" "00198" "00209308" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157908" "00198" "00209309" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157909" "00198" "00209310" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157910" "00198" "00209311" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157911" "00198" "00209312" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157912" "00198" "00209313" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157913" "00198" "00209314" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157914" "00198" "00209315" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157915" "00198" "00209316" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157916" "00198" "00209317" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157917" "00198" "00209318" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157918" "00198" "00209319" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157919" "00198" "00209320" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157920" "00198" "00209321" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157921" "00198" "00209322" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157922" "00198" "00209323" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157923" "00198" "00209324" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157924" "00198" "00209325" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157925" "00198" "00209326" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157926" "00198" "00209327" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157927" "00198" "00209328" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157928" "05158" "00209329" "02140" "Unknown" "" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "" "" "" "ARVD-10" "arrhythmogenic right ventricular cardiomyopathy" "" "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" "" "0000158595" "05099" "00209997" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000167947" "00198" "00219408" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "?congenital long QT syndrome?" "" "0000224108" "00198" "00296708" "00006" "Unknown" "29y" "hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000230002" "00946" "00302919" "01164" "Unknown" "" "Sudden cardiac death, Sudden death, patient deceased sudden death, post-mortem analysis" "" "" "" "" "" "" "" "" "" "" "" "0000231206" "00000" "00305356" "01164" "Unknown" "" "healthy pregnant individual, prenatal diagnostic, hydrops, holoprosencephaly, FW karyotype 46,XY" "" "" "" "" "" "" "" "" "" "" "" "0000231207" "01467" "00305357" "01164" "Unknown" "17y" "Polyneuropathy DD SMA type 3, distal weakness of both legs ASR-/- slender legs, hollow foot, no sensitivity disorder" "" "" "" "" "" "" "" "" "" "" "" "0000231208" "04312" "00305358" "01164" "Unknown" "" "Congenital Myasthenic Syndrome, antibody negative" "" "" "" "" "" "" "" "" "" "" "" "0000231209" "02308" "00305359" "01164" "Unknown" "12y" "Random finding of a CK elevation (> 12000U/l), no complaints, active in sports, under control CK 2684 U/l; HPO: Abnormality of the musculature" "" "" "" "" "" "" "" "" "" "" "" "0000240572" "04172" "00316826" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240713" "04172" "00316967" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240714" "04172" "00316968" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240715" "04172" "00316969" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240716" "04172" "00316970" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240717" "04172" "00316971" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240718" "04172" "00316972" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240719" "04172" "00316973" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240720" "04172" "00316974" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240721" "04172" "00316975" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240722" "04172" "00316976" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240723" "04172" "00316977" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240724" "04172" "00316978" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240725" "04172" "00316979" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240726" "04172" "00316980" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240727" "04172" "00316981" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000241476" "04172" "00317730" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241477" "04172" "00317731" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000242323" "04172" "00320295" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000247217" "02087" "00329013" "01164" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000269858" "00198" "00374648" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "muscle weakness" "" ## Screenings ## Do not remove or alter this header ## ## Count = 237 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000029031" "00028990" "1" "00066" "00066" "2015-01-13 09:36:53" "" "" "SEQ-NG-S" "DNA" "" "" "0000029040" "00028999" "1" "00066" "00066" "2015-01-14 13:03:28" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000029041" "00029000" "1" "00066" "00066" "2015-01-14 13:06:20" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000044026" "00043783" "1" "01337" "01337" "2015-06-19 14:29:15" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000064165" "00064033" "1" "00006" "00006" "2016-04-19 22:24:31" "" "" "SEQ" "DNA" "" "" "0000064166" "00064034" "1" "00006" "00006" "2016-04-19 22:59:40" "" "" "SEQ" "DNA" "" "" "0000064206" "00064073" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064214" "00064081" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064225" "00064092" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064230" "00064097" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064250" "00064117" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064256" "00064123" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064297" "00064164" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064313" "00064180" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064323" "00064190" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064351" "00064218" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064400" "00064267" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064841" "00064702" "1" "01601" "01601" "2016-05-10 10:58:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000064864" "00064725" "1" "01601" "01601" "2016-05-10 12:27:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000128835" "00128368" "1" "02244" "02244" "2017-09-15 14:29:11" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129233" "00128395" "1" "02244" "02244" "2017-09-15 15:32:27" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129254" "00128416" "1" "02244" "02244" "2017-09-15 16:12:35" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129289" "00128451" "1" "02244" "02244" "2017-09-15 17:45:00" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129306" "00128468" "1" "02244" "02244" "2017-09-15 18:18:53" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000171693" "00170818" "1" "02529" "02529" "2018-07-23 14:32:57" "" "" "DHPLC" "DNA" "peripheral blood" "" "0000210122" "00209065" "1" "00802" "00802" "2009-01-22 11:18:14" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210123" "00209066" "1" "02140" "00802" "2017-07-11 13:21:34" "" "" "SEQ" "DNA" "" "" "0000210213" "00209156" "1" "00802" "00802" "2009-01-22 10:16:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210214" "00209157" "1" "00802" "00802" "2009-01-22 12:31:14" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210215" "00209158" "1" "00802" "00802" "2009-01-22 12:33:58" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210216" "00209159" "1" "00802" "00802" "2009-01-22 12:45:38" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210217" "00209160" "1" "00802" "00802" "2009-01-22 12:48:58" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210218" "00209161" "1" "00802" "00802" "2009-01-22 12:58:17" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210219" "00209162" "1" "00802" "00802" "2009-01-22 13:04:24" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210220" "00209163" "1" "00802" "00802" "2009-01-22 13:11:37" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210221" "00209164" "1" "00802" "00802" "2009-01-22 13:14:00" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210222" "00209165" "1" "00802" "00802" "2009-01-22 13:23:51" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210223" "00209166" "1" "00802" "00802" "2009-01-22 13:28:32" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210224" "00209167" "1" "00802" "00802" "2009-01-22 13:30:18" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210225" "00209168" "1" "00802" "00802" "2009-01-22 13:33:52" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210226" "00209169" "1" "00802" "00802" "2009-01-22 13:38:35" "00802" "2010-03-11 09:17:47" "SEQ" "DNA" "" "" "0000210227" "00209170" "1" "00802" "00802" "2009-01-22 13:42:42" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210228" "00209171" "1" "00802" "00802" "2009-01-22 13:45:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210229" "00209172" "1" "00802" "00802" "2009-01-22 13:52:58" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210230" "00209173" "1" "00802" "00802" "2009-01-22 13:56:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210231" "00209174" "1" "00802" "00802" "2009-01-22 14:04:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210232" "00209175" "1" "00802" "00802" "2009-01-22 14:07:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210233" "00209176" "1" "00802" "00802" "2009-01-22 14:11:17" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210234" "00209177" "1" "00802" "00802" "2009-01-22 14:14:56" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210235" "00209178" "1" "00802" "00802" "2009-01-22 14:17:42" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210236" "00209179" "1" "00802" "00802" "2009-01-22 15:05:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210237" "00209180" "1" "00802" "00802" "2009-01-22 15:07:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210238" "00209181" "1" "00802" "00802" "2009-01-22 15:10:42" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210239" "00209182" "1" "00802" "00802" "2009-01-22 15:15:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210240" "00209183" "1" "00802" "00802" "2009-01-22 15:18:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210241" "00209184" "1" "00802" "00802" "2009-01-22 15:21:40" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210242" "00209185" "1" "00802" "00802" "2009-01-22 15:32:08" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210243" "00209186" "1" "00802" "00802" "2009-01-22 15:40:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210244" "00209187" "1" "00802" "00802" "2009-01-22 15:43:26" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210245" "00209188" "1" "00802" "00802" "2009-01-22 15:45:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210246" "00209189" "1" "00802" "00802" "2009-01-22 15:49:07" "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" "" "" "0000210248" "00209191" "1" "00802" "00802" "2009-01-22 16:33:39" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210249" "00209192" "1" "00802" "00802" "2009-01-22 16:37:33" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210250" "00209193" "1" "00802" "00802" "2009-01-22 16:39:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210251" "00209194" "1" "00802" "00802" "2009-01-22 16:42:31" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210252" "00209195" "1" "00802" "00802" "2009-01-22 16:45:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210253" "00209196" "1" "00802" "00802" "2009-01-22 16:48:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210254" "00209197" "1" "00802" "00802" "2009-01-22 16:50:37" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210255" "00209198" "1" "00802" "00802" "2009-01-22 16:51:59" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210256" "00209199" "1" "00802" "00802" "2009-01-22 17:17:07" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210257" "00209200" "1" "00802" "00802" "2009-01-22 17:18:31" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210258" "00209201" "1" "00802" "00802" "2009-01-23 09:11:58" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210259" "00209202" "1" "00802" "00802" "2009-01-23 09:40:30" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210260" "00209203" "1" "00802" "00802" "2009-01-23 09:42:13" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210261" "00209204" "1" "00802" "00802" "2009-01-23 09:47:15" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210262" "00209205" "1" "00802" "00802" "2009-01-23 10:07:33" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210263" "00209206" "1" "00802" "00802" "2009-01-23 10:14:56" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210264" "00209207" "1" "00802" "00802" "2009-01-23 10:28:10" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210265" "00209208" "1" "00802" "00802" "2009-01-23 10:49:34" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210266" "00209209" "1" "00802" "00802" "2009-01-23 10:55:26" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210267" "00209210" "1" "00802" "00802" "2009-01-23 11:03:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210268" "00209211" "1" "00802" "00802" "2009-01-23 11:05:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210269" "00209212" "1" "00802" "00802" "2009-01-23 11:10:25" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" "" "0000210270" "00209213" "1" "00802" "00802" "2009-01-23 11:18:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210271" "00209214" "1" "00802" "00802" "2009-02-23 10:30:17" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210272" "00209215" "1" "00802" "00802" "2009-02-23 10:30:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210273" "00209216" "1" "00802" "00802" "2009-02-23 10:35:09" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210274" "00209217" "1" "00802" "00802" "2009-02-23 10:36:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210275" "00209218" "1" "00802" "00802" "2009-02-23 10:36:49" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210276" "00209219" "1" "00802" "00802" "2009-02-23 10:37:40" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210277" "00209220" "1" "00802" "00802" "2009-02-23 10:39:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210278" "00209221" "1" "00802" "00802" "2009-02-23 10:47:31" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210279" "00209222" "1" "00802" "00802" "2009-02-23 10:52:51" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210280" "00209223" "1" "00802" "00802" "2009-02-23 10:55:21" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210281" "00209224" "1" "00802" "00802" "2009-02-23 10:56:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210282" "00209225" "1" "00802" "00802" "2009-02-23 10:57:31" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210283" "00209226" "1" "00802" "00802" "2009-02-23 10:58:39" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210284" "00209227" "1" "00802" "00802" "2009-03-13 16:02:26" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210285" "00209228" "1" "00802" "00802" "2009-03-13 16:04:13" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210286" "00209229" "1" "00802" "00802" "2009-04-29 12:34:13" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210287" "00209230" "1" "00802" "00802" "2009-06-18 09:23:42" "00802" "2010-02-05 13:54:45" "SEQ" "DNA" "" "" "0000210288" "00209231" "1" "00802" "00802" "2009-06-18 09:29:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210289" "00209232" "1" "00802" "00802" "2009-06-18 09:34:52" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210290" "00209233" "1" "00802" "00802" "2009-06-18 09:43:31" "00802" "2010-03-11 09:19:04" "SEQ" "DNA" "" "" "0000210291" "00209234" "1" "00802" "00802" "2009-06-18 09:46:39" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210292" "00209235" "1" "00802" "00802" "2009-06-18 09:53:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210293" "00209236" "1" "00802" "00802" "2009-06-18 09:54:51" "00802" "2010-01-05 08:59:51" "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" "" "" "0000210296" "00209239" "1" "00802" "00802" "2009-06-18 15:13:08" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210297" "00209240" "1" "00802" "00802" "2009-06-18 15:39:25" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210298" "00209241" "1" "00802" "00802" "2009-06-18 15:41:08" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210299" "00209242" "1" "00802" "00802" "2009-07-28 12:40:53" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210300" "00209243" "1" "00802" "00802" "2009-07-28 12:42:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210301" "00209244" "1" "00802" "00802" "2009-11-03 16:12:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210302" "00209245" "1" "00802" "00802" "2010-02-05 13:56:40" "" "" "SEQ" "DNA" "" "" "0000210303" "00209246" "1" "00802" "00802" "2010-02-05 13:58:26" "" "" "SEQ" "DNA" "" "" "0000210304" "00209247" "1" "03133" "00802" "2013-01-04 12:26:18" "" "" "SEQ" "DNA" "" "" "0000210305" "00209248" "1" "03133" "00802" "2013-01-04 12:31:36" "" "" "SEQ" "DNA" "" "" "0000210306" "00209249" "1" "03133" "00802" "2013-01-04 12:34:07" "" "" "SEQ" "DNA" "" "" "0000210307" "00209250" "1" "03133" "00802" "2013-01-04 12:36:34" "" "" "SEQ" "DNA" "" "" "0000210308" "00209251" "1" "03133" "00802" "2013-01-04 12:38:07" "" "" "SEQ" "DNA" "" "" "0000210309" "00209252" "1" "03133" "00802" "2013-01-04 12:41:03" "" "" "SEQ" "DNA" "" "" "0000210310" "00209253" "1" "03133" "00802" "2013-01-04 12:43:45" "" "" "SEQ" "DNA" "" "" "0000210311" "00209254" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210312" "00209255" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210313" "00209256" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210314" "00209257" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210315" "00209258" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210316" "00209259" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210317" "00209260" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210318" "00209261" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210319" "00209262" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210320" "00209263" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210321" "00209264" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210322" "00209265" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210323" "00209266" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210324" "00209267" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210325" "00209268" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210326" "00209269" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210327" "00209270" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210328" "00209271" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210329" "00209272" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210330" "00209273" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210331" "00209274" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210332" "00209275" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210333" "00209276" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210334" "00209277" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210335" "00209278" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210336" "00209279" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210337" "00209280" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210338" "00209281" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210339" "00209282" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210340" "00209283" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210341" "00209284" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210342" "00209285" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210343" "00209286" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210344" "00209287" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210345" "00209288" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210346" "00209289" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210347" "00209290" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210348" "00209291" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210349" "00209292" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210350" "00209293" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210351" "00209294" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210352" "00209295" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210353" "00209296" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210354" "00209297" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210355" "00209298" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210356" "00209299" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210357" "00209300" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210358" "00209301" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210359" "00209302" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210360" "00209303" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210361" "00209304" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210362" "00209305" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210363" "00209306" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210364" "00209307" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210365" "00209308" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210366" "00209309" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210367" "00209310" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210368" "00209311" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210369" "00209312" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210370" "00209313" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210371" "00209314" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210372" "00209315" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210373" "00209316" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210374" "00209317" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210375" "00209318" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210376" "00209319" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210377" "00209320" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210378" "00209321" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210379" "00209322" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210380" "00209323" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210381" "00209324" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210382" "00209325" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210383" "00209326" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210384" "00209327" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210385" "00209328" "1" "00802" "00802" "2014-10-15 16:30:44" "" "" "SEQ" "DNA" "" "" "0000210386" "00209329" "1" "02140" "00802" "2017-07-11 13:35:25" "" "" "SEQ" "DNA" "" "" "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" "" "" "0000211054" "00209997" "1" "00006" "00006" "2018-12-24 19:39:05" "" "" "SEQ" "DNA" "" "" "0000220479" "00219408" "1" "00006" "00006" "2019-02-10 09:55:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293100" "00291932" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293101" "00291933" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293102" "00291934" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297818" "00296708" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000304045" "00302919" "1" "01164" "01164" "2020-06-04 11:32:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000305750" "00304621" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305751" "00304622" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306485" "00305356" "1" "01164" "01164" "2020-06-24 15:32:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000306486" "00305357" "1" "01164" "01164" "2020-06-24 15:44:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000306487" "00305358" "1" "01164" "01164" "2020-06-24 15:48:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000306488" "00305359" "1" "01164" "01164" "2020-06-24 15:56:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000318008" "00316826" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318149" "00316967" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318150" "00316968" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318151" "00316969" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318152" "00316970" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318153" "00316971" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318154" "00316972" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318155" "00316973" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318156" "00316974" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318157" "00316975" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318158" "00316976" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318159" "00316977" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318160" "00316978" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318161" "00316979" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318162" "00316980" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318163" "00316981" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318912" "00317730" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318913" "00317731" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000321481" "00320295" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000330230" "00329013" "1" "01164" "01164" "2021-02-03 13:23:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000375842" "00374648" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 225 "{{screeningid}}" "{{geneid}}" "0000064165" "DSG2" "0000064165" "PKP2" "0000064166" "DSG2" "0000064206" "TTN" "0000064214" "TTN" "0000064225" "TTN" "0000064230" "TTN" "0000064250" "TTN" "0000064256" "TTN" "0000064297" "TTN" "0000064313" "TTN" "0000064323" "TTN" "0000064351" "TTN" "0000064400" "DSG2" "0000171693" "DSG2" "0000210122" "DSC2" "0000210123" "DSC2" "0000210213" "DSG2" "0000210214" "DSG2" "0000210215" "DSG2" "0000210216" "DSG2" "0000210217" "DSG2" "0000210218" "DSG2" "0000210219" "DSG2" "0000210220" "DSG2" "0000210221" "DSG2" "0000210222" "DSG2" "0000210223" "DSG2" "0000210224" "DSG2" "0000210225" "DSG2" "0000210226" "DSG2" "0000210227" "DSG2" "0000210228" "DSG2" "0000210229" "DSG2" "0000210230" "DSG2" "0000210231" "DSG2" "0000210232" "DSG2" "0000210233" "DSG2" "0000210234" "DSG2" "0000210235" "DSG2" "0000210236" "DSG2" "0000210237" "DSG2" "0000210238" "DSG2" "0000210239" "DSG2" "0000210240" "DSG2" "0000210241" "DSG2" "0000210242" "DSG2" "0000210243" "DSG2" "0000210244" "DSG2" "0000210245" "DSG2" "0000210246" "DSG2" "0000210247" "DSG2" "0000210248" "DSG2" "0000210249" "DSG2" "0000210250" "DSG2" "0000210251" "DSG2" "0000210252" "DSG2" "0000210253" "DSG2" "0000210254" "DSG2" "0000210255" "DSG2" "0000210256" "DSG2" "0000210257" "DSG2" "0000210258" "DSG2" "0000210259" "DSG2" "0000210260" "DSG2" "0000210261" "DSG2" "0000210262" "DSG2" "0000210263" "DSG2" "0000210264" "DSG2" "0000210265" "DSG2" "0000210266" "DSG2" "0000210267" "DSG2" "0000210268" "DSG2" "0000210269" "DSG2" "0000210270" "DSG2" "0000210271" "DSG2" "0000210272" "DSG2" "0000210273" "DSG2" "0000210274" "DSG2" "0000210275" "DSG2" "0000210276" "DSG2" "0000210277" "DSG2" "0000210278" "DSG2" "0000210279" "DSG2" "0000210280" "DSG2" "0000210281" "DSG2" "0000210282" "DSG2" "0000210283" "DSG2" "0000210284" "DSG2" "0000210285" "DSG2" "0000210286" "DSG2" "0000210287" "DSG2" "0000210288" "DSG2" "0000210289" "DSG2" "0000210290" "DSG2" "0000210291" "DSG2" "0000210292" "DSG2" "0000210293" "DSG2" "0000210294" "DSG2" "0000210295" "DSG2" "0000210296" "DSG2" "0000210297" "DSG2" "0000210298" "DSG2" "0000210299" "DSG2" "0000210300" "DSG2" "0000210301" "DSG2" "0000210302" "DSG2" "0000210303" "DSG2" "0000210304" "DSG2" "0000210305" "DSG2" "0000210306" "DSG2" "0000210307" "DSG2" "0000210308" "DSG2" "0000210309" "DSG2" "0000210309" "DSP" "0000210310" "DSG2" "0000210310" "DSP" "0000210311" "DSG2" "0000210312" "DSG2" "0000210313" "DSG2" "0000210314" "DSG2" "0000210315" "DSG2" "0000210316" "DSG2" "0000210317" "DSG2" "0000210318" "DSG2" "0000210319" "DSG2" "0000210320" "DSG2" "0000210321" "DSG2" "0000210322" "DSG2" "0000210323" "DSG2" "0000210324" "DSG2" "0000210325" "DSG2" "0000210326" "DSG2" "0000210327" "DSG2" "0000210328" "DSG2" "0000210329" "DSG2" "0000210330" "DSG2" "0000210331" "DSG2" "0000210332" "DSG2" "0000210333" "DSG2" "0000210334" "DSG2" "0000210335" "DSG2" "0000210336" "DSG2" "0000210337" "DSG2" "0000210338" "DSG2" "0000210339" "DSG2" "0000210340" "DSG2" "0000210341" "DSG2" "0000210342" "DSG2" "0000210343" "DSG2" "0000210344" "DSG2" "0000210345" "DSG2" "0000210346" "DSG2" "0000210347" "DSG2" "0000210348" "DSG2" "0000210349" "DSG2" "0000210350" "DSG2" "0000210351" "DSG2" "0000210352" "DSG2" "0000210353" "DSG2" "0000210354" "DSG2" "0000210355" "DSG2" "0000210356" "DSG2" "0000210357" "DSG2" "0000210358" "DSG2" "0000210359" "DSG2" "0000210360" "DSG2" "0000210361" "DSG2" "0000210362" "DSG2" "0000210363" "DSG2" "0000210364" "DSG2" "0000210365" "DSG2" "0000210366" "DSG2" "0000210367" "DSG2" "0000210368" "DSG2" "0000210369" "DSG2" "0000210370" "DSG2" "0000210371" "DSG2" "0000210372" "DSG2" "0000210373" "DSG2" "0000210374" "DSG2" "0000210375" "DSG2" "0000210376" "DSG2" "0000210377" "DSG2" "0000210378" "DSG2" "0000210379" "DSG2" "0000210380" "DSG2" "0000210381" "DSG2" "0000210382" "DSG2" "0000210383" "DSG2" "0000210384" "DSG2" "0000210385" "DSG2" "0000210386" "DSG2" "0000211046" "DSG2" "0000211046" "PKP2" "0000220479" "TRIM63" "0000297818" "DSG2" "0000297818" "LAMA4" "0000297818" "LDB3" "0000304045" "DSG2" "0000306485" "DSG2" "0000306486" "DSG2" "0000306487" "DSG2" "0000306488" "DSG2" "0000318008" "DSG2" "0000318149" "DSG2" "0000318150" "DSG2" "0000318151" "DSG2" "0000318152" "DSG2" "0000318153" "DSG2" "0000318154" "DSG2" "0000318155" "DSG2" "0000318156" "DSG2" "0000318157" "DSG2" "0000318158" "DSG2" "0000318159" "DSG2" "0000318160" "DSG2" "0000318161" "DSG2" "0000318162" "DSG2" "0000318163" "DSG2" "0000318912" "DSG2" "0000318913" "DSG2" "0000321481" "DSG2" "0000330230" "DSG2" "0000375842" "AGRN" ## 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 = 750 "{{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}}" "0000052372" "0" "50" "18" "29126558" "29126558" "subst" "0.00180463" "00066" "DSG2_000076" "g.29126558C>T" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs149617776" "0" "" "" "g.31546595C>T" "" "VUS" "" "0000052381" "1" "10" "18" "29104840" "29104840" "subst" "0.000511987" "00066" "DSG2_000070" "g.29104840A>G" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs191564916" "0" "" "" "g.31524877A>G" "" "benign" "" "0000052382" "1" "10" "18" "29101156" "29101156" "subst" "0.0053432" "00066" "DSG2_000016" "g.29101156T>G" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "no" "rs191143292" "0" "" "" "g.31521193T>G" "" "benign" "" "0000071831" "0" "70" "18" "29115322" "29115322" "subst" "0.00000408824" "01337" "DSG2_000175" "g.29115322C>G" "" "" "" "" "assumed de novo" "De novo" "?" "" "0" "" "" "g.31535359C>G" "" "likely pathogenic" "" "0000095129" "1" "90" "18" "29118835" "29118836" "del" "0" "00006" "DSG2_000041" "g.29118835_29118836del" "" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "1773_1774delTG" "" "Germline" "" "" "0" "" "" "g.31538872_31538873del" "" "pathogenic" "" "0000095131" "1" "90" "18" "29115263" "29115263" "subst" "0" "00006" "DSG2_000181" "g.29115263G>A" "" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "" "" "Germline" "" "" "0" "" "" "g.31535300G>A" "" "pathogenic" "" "0000095204" "0" "50" "18" "29122591" "29122591" "subst" "0.0000121908" "00006" "DSG2_000075" "g.29122591A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.A2110G" "" "Germline" "" "" "0" "" "" "g.31542628A>G" "" "VUS" "" "0000095231" "0" "50" "18" "29111109" "29111109" "subst" "0.00225959" "00006" "DSG2_000033" "g.29111109G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.G1174A" "" "Germline" "" "" "0" "" "" "g.31531146G>A" "" "VUS" "" "0000095274" "0" "50" "18" "29111109" "29111109" "subst" "0.00225959" "00006" "DSG2_000033" "g.29111109G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.G1174A" "" "Germline" "" "" "0" "" "" "g.31531146G>A" "" "VUS" "" "0000095290" "0" "50" "18" "29099850" "29099850" "subst" "0.00186884" "00006" "DSG2_000008" "g.29099850G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.G166A" "" "Germline" "" "" "0" "" "" "g.31519887G>A" "" "VUS" "" "0000095362" "0" "50" "18" "29115328" "29115328" "subst" "0.00116036" "00006" "DSG2_000184" "g.29115328A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.A1376G" "" "Germline" "" "" "0" "" "" "g.31535365A>G" "" "VUS" "" "0000095404" "0" "50" "18" "29099805" "29099805" "subst" "0.000093445" "00006" "DSG2_000171" "g.29099805C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.C121A" "" "Germline" "" "" "0" "" "" "g.31519842C>A" "" "VUS" "" "0000095542" "0" "50" "18" "29126458" "29126458" "subst" "0.0000203155" "00006" "DSG2_000186" "g.29126458A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.A3109G" "" "Germline" "" "" "0" "" "" "g.31546495A>G" "" "VUS" "" "0000095602" "0" "50" "18" "29102067" "29102067" "subst" "0.0000325214" "00006" "DSG2_000108" "g.29102067A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.A545G" "" "Germline" "" "" "0" "" "" "g.31522104A>G" "" "VUS" "" "0000095627" "0" "50" "18" "29101156" "29101156" "subst" "0.0053432" "00006" "DSG2_000016" "g.29101156T>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.T473G" "" "Germline" "" "" "0" "" "" "g.31521193T>G" "" "VUS" "" "0000095719" "0" "50" "18" "29126099" "29126099" "subst" "0.000146478" "00006" "DSG2_000155" "g.29126099C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.C2750T" "" "Germline" "" "" "0" "" "" "g.31546136C>T" "" "VUS" "" "0000095792" "1" "50" "18" "29099850" "29099850" "subst" "0.00186884" "00006" "DSG2_000008" "g.29099850G>A" "2/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001943:c.G166A" "" "Germline" "" "" "0" "" "" "g.31519887G>A" "" "VUS" "" "0000096478" "0" "50" "18" "29104840" "29104840" "subst" "0.000511987" "01601" "DSG2_000070" "g.29104840A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "VUS" "" "0000096517" "0" "50" "18" "29101120" "29101120" "subst" "0.00037807" "01601" "DSG2_000103" "g.29101120G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31521157G>T" "" "VUS" "" "0000217967" "0" "50" "18" "29115328" "29115328" "subst" "0.00116036" "02244" "DSG2_000184" "g.29115328A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31535365A>G" "" "VUS" "" "0000218373" "0" "50" "18" "29100769" "29100769" "subst" "0" "02244" "DSG2_000187" "g.29100769C>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31520806C>A" "" "VUS" "" "0000218399" "0" "50" "18" "29104436" "29104436" "subst" "0.000085477" "02244" "DSG2_000113" "g.29104436T>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31524473T>C" "" "VUS" "" "0000218447" "0" "90" "18" "29125783" "29125783" "subst" "0.0000243815" "02244" "DSG2_000149" "g.29125783G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31545820G>A" "" "pathogenic" "" "0000218470" "0" "90" "18" "29126689" "29126689" "subst" "0" "02244" "DSG2_000190" "g.29126689C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31546726C>T" "" "pathogenic" "" "0000247488" "0" "10" "18" "29125854" "29125854" "subst" "0.124758" "02330" "DSG2_000050" "g.29125854A>G" "" "" "" "DSG2(NM_001943.3):c.2505A>G (p.T835=), DSG2(NM_001943.5):c.2505A>G (p.T835=), DSG2-AS1(NR_045216.1):n.1361T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545891A>G" "" "benign" "" "0000247489" "0" "10" "18" "29104714" "29104714" "subst" "0.0691757" "02330" "DSG2_000026" "g.29104714A>G" "" "" "" "DSG2(NM_001943.3):c.877A>G (p.I293V), DSG2(NM_001943.5):c.877A>G (p.I293V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524751A>G" "" "benign" "" "0000247490" "0" "10" "18" "29125936" "29125936" "subst" "0.00162836" "02330" "DSG2_000051" "g.29125936A>C" "" "" "" "DSG2(NM_001943.3):c.2587A>C (p.M863L), DSG2(NM_001943.5):c.2587A>C (p.M863L), DSG2-AS1(NR_045216.1):n.1346-67T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545973A>C" "" "benign" "" "0000247492" "0" "10" "18" "29126484" "29126484" "subst" "0.00169036" "02330" "DSG2_000056" "g.29126484A>C" "" "" "" "DSG2(NM_001943.3):c.3135A>C (p.T1045=), DSG2(NM_001943.5):c.3135A>C (p.T1045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546521A>C" "" "benign" "" "0000247493" "0" "10" "18" "29100815" "29100815" "subst" "0.000935324" "02330" "DSG2_000012" "g.29100815A>G" "" "" "" "DSG2(NM_001943.3):c.266A>G (p.Y89C), DSG2(NM_001943.5):c.266A>G (p.Y89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520852A>G" "" "benign" "" "0000247500" "0" "10" "18" "29121190" "29121190" "subst" "0.0020412" "02330" "DSG2_000141" "g.29121190A>G" "" "" "" "DSG2(NM_001943.3):c.1914A>G (p.G638=), DSG2(NM_001943.5):c.1914A>G (p.G638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541227A>G" "" "benign" "" "0000247501" "0" "10" "18" "29126052" "29126052" "subst" "0.000329668" "02330" "DSG2_000276" "g.29126052A>G" "" "" "" "DSG2(NM_001943.3):c.2703A>G (p.K901=), DSG2(NM_001943.5):c.2703A>G (p.K901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546089A>G" "" "benign" "" "0000247502" "0" "50" "18" "29104717" "29104717" "subst" "0.0000203202" "02330" "DSG2_000027" "g.29104717A>G" "" "" "" "DSG2(NM_001943.3):c.880A>G (p.K294E), DSG2(NM_001943.5):c.880A>G (p.K294E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524754A>G" "" "VUS" "" "0000247506" "0" "30" "18" "29100770" "29100770" "subst" "0.000211566" "02330" "DSG2_000101" "g.29100770A>G" "" "" "" "DSG2(NM_001943.3):c.221A>G (p.H74R), DSG2(NM_001943.5):c.221A>G (p.H74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520807A>G" "" "likely benign" "" "0000247507" "0" "10" "18" "29115328" "29115328" "subst" "0.00116036" "02330" "DSG2_000184" "g.29115328A>G" "" "" "" "DSG2(NM_001943.3):c.1376A>G (p.Y459C), DSG2(NM_001943.5):c.1376A>G (p.Y459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31535365A>G" "" "benign" "" "0000247521" "0" "10" "18" "29104701" "29104701" "subst" "0" "02330" "DSG2_000229" "g.29104701A>G" "" "" "" "DSG2(NM_001943.5):c.864A>G (p.V288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524738A>G" "" "benign" "" "0000247522" "0" "10" "18" "29126376" "29126376" "subst" "0.00000406435" "02330" "DSG2_000294" "g.29126376A>G" "" "" "" "DSG2(NM_001943.3):c.3027A>G (p.Q1009=), DSG2(NM_001943.5):c.3027A>G (p.Q1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546413A>G" "" "benign" "" "0000247544" "0" "50" "18" "29104485" "29104485" "subst" "0" "02330" "DSG2_000290" "g.29104485A>T" "" "" "" "DSG2(NM_001943.5):c.765A>T (p.Q255H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524522A>T" "" "VUS" "" "0000247545" "0" "50" "18" "29104691" "29104691" "subst" "0" "02330" "DSG2_000226" "g.29104691A>C" "" "" "" "DSG2(NM_001943.5):c.854A>C (p.Q285P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524728A>C" "" "VUS" "" "0000247546" "0" "50" "18" "29122673" "29122673" "subst" "0.0000609543" "02330" "DSG2_000145" "g.29122673A>C" "" "" "" "DSG2(NM_001943.5):c.2192A>C (p.Q731P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542710A>C" "" "VUS" "" "0000247547" "0" "50" "18" "29102115" "29102115" "subst" "0.0000162565" "02330" "DSG2_000110" "g.29102115A>G" "" "" "" "DSG2(NM_001943.3):c.593A>G (p.Y198C), DSG2(NM_001943.5):c.593A>G (p.Y198C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31522152A>G" "" "VUS" "" "0000247548" "0" "50" "18" "29118882" "29118882" "subst" "0.000016277" "02330" "DSG2_000292" "g.29118882A>G" "" "" "" "DSG2(NM_001943.5):c.1820A>G (p.Y607C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538919A>G" "" "VUS" "" "0000247838" "0" "10" "18" "29125854" "29125854" "subst" "0.124758" "02325" "DSG2_000050" "g.29125854A>G" "" "" "" "DSG2(NM_001943.3):c.2505A>G (p.T835=), DSG2(NM_001943.5):c.2505A>G (p.T835=), DSG2-AS1(NR_045216.1):n.1361T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545891A>G" "" "benign" "" "0000247839" "0" "10" "18" "29104714" "29104714" "subst" "0.0691757" "02325" "DSG2_000026" "g.29104714A>G" "" "" "" "DSG2(NM_001943.3):c.877A>G (p.I293V), DSG2(NM_001943.5):c.877A>G (p.I293V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524751A>G" "" "benign" "" "0000247873" "0" "30" "18" "29125936" "29125936" "subst" "0.00162836" "02325" "DSG2_000051" "g.29125936A>C" "" "" "" "DSG2(NM_001943.3):c.2587A>C (p.M863L), DSG2(NM_001943.5):c.2587A>C (p.M863L), DSG2-AS1(NR_045216.1):n.1346-67T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545973A>C" "" "likely benign" "" "0000248265" "0" "30" "18" "29100770" "29100770" "subst" "0.000211566" "02325" "DSG2_000101" "g.29100770A>G" "" "" "" "DSG2(NM_001943.3):c.221A>G (p.H74R), DSG2(NM_001943.5):c.221A>G (p.H74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520807A>G" "" "likely benign" "" "0000249410" "0" "30" "18" "29100822" "29100822" "subst" "0.00017894" "02325" "DSG2_000208" "g.29100822A>G" "" "" "" "DSG2(NM_001943.3):c.273A>G (p.G91=), DSG2(NM_001943.5):c.273A>G (p.G91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520859A>G" "" "likely benign" "" "0000249411" "0" "30" "18" "29101067" "29101067" "subst" "0" "02325" "DSG2_000289" "g.29101067A>C" "" "" "" "DSG2(NM_001943.5):c.384A>C (p.T128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521104A>C" "" "likely benign" "" "0000250620" "0" "10" "18" "29125854" "29125854" "subst" "0.124758" "02326" "DSG2_000050" "g.29125854A>G" "" "" "" "DSG2(NM_001943.3):c.2505A>G (p.T835=), DSG2(NM_001943.5):c.2505A>G (p.T835=), DSG2-AS1(NR_045216.1):n.1361T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545891A>G" "" "benign" "" "0000250621" "0" "10" "18" "29104714" "29104714" "subst" "0.0691757" "02326" "DSG2_000026" "g.29104714A>G" "" "" "" "DSG2(NM_001943.3):c.877A>G (p.I293V), DSG2(NM_001943.5):c.877A>G (p.I293V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524751A>G" "" "benign" "" "0000250655" "0" "10" "18" "29125936" "29125936" "subst" "0.00162836" "02326" "DSG2_000051" "g.29125936A>C" "" "" "" "DSG2(NM_001943.3):c.2587A>C (p.M863L), DSG2(NM_001943.5):c.2587A>C (p.M863L), DSG2-AS1(NR_045216.1):n.1346-67T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545973A>C" "" "benign" "" "0000251711" "0" "30" "18" "29100770" "29100770" "subst" "0.000211566" "02326" "DSG2_000101" "g.29100770A>G" "" "" "" "DSG2(NM_001943.3):c.221A>G (p.H74R), DSG2(NM_001943.5):c.221A>G (p.H74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520807A>G" "" "likely benign" "" "0000251737" "0" "30" "18" "29115328" "29115328" "subst" "0.00116036" "02326" "DSG2_000184" "g.29115328A>G" "" "" "" "DSG2(NM_001943.3):c.1376A>G (p.Y459C), DSG2(NM_001943.5):c.1376A>G (p.Y459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31535365A>G" "" "likely benign" "" "0000252702" "0" "50" "18" "29100766" "29100766" "subst" "0" "02326" "DSG2_000010" "g.29100766A>G" "" "" "" "DSG2(NM_001943.3):c.217A>G (p.I73V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520803A>G" "" "VUS" "" "0000252972" "0" "10" "18" "29125854" "29125854" "subst" "0.124758" "01943" "DSG2_000050" "g.29125854A>G" "" "" "" "DSG2(NM_001943.3):c.2505A>G (p.T835=), DSG2(NM_001943.5):c.2505A>G (p.T835=), DSG2-AS1(NR_045216.1):n.1361T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545891A>G" "" "benign" "" "0000252973" "0" "10" "18" "29104714" "29104714" "subst" "0.0691757" "01943" "DSG2_000026" "g.29104714A>G" "" "" "" "DSG2(NM_001943.3):c.877A>G (p.I293V), DSG2(NM_001943.5):c.877A>G (p.I293V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524751A>G" "" "benign" "" "0000253007" "0" "10" "18" "29125936" "29125936" "subst" "0.00162836" "01943" "DSG2_000051" "g.29125936A>C" "" "" "" "DSG2(NM_001943.3):c.2587A>C (p.M863L), DSG2(NM_001943.5):c.2587A>C (p.M863L), DSG2-AS1(NR_045216.1):n.1346-67T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545973A>C" "" "benign" "" "0000253366" "0" "10" "18" "29126484" "29126484" "subst" "0.00169036" "01943" "DSG2_000056" "g.29126484A>C" "" "" "" "DSG2(NM_001943.3):c.3135A>C (p.T1045=), DSG2(NM_001943.5):c.3135A>C (p.T1045=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546521A>C" "" "benign" "" "0000253391" "0" "10" "18" "29100815" "29100815" "subst" "0.000935324" "01943" "DSG2_000012" "g.29100815A>G" "" "" "" "DSG2(NM_001943.3):c.266A>G (p.Y89C), DSG2(NM_001943.5):c.266A>G (p.Y89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520852A>G" "" "benign" "" "0000254148" "0" "30" "18" "29121190" "29121190" "subst" "0.0020412" "01943" "DSG2_000141" "g.29121190A>G" "" "" "" "DSG2(NM_001943.3):c.1914A>G (p.G638=), DSG2(NM_001943.5):c.1914A>G (p.G638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541227A>G" "" "likely benign" "" "0000254149" "0" "30" "18" "29126052" "29126052" "subst" "0.000329668" "01943" "DSG2_000276" "g.29126052A>G" "" "" "" "DSG2(NM_001943.3):c.2703A>G (p.K901=), DSG2(NM_001943.5):c.2703A>G (p.K901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546089A>G" "" "likely benign" "" "0000254389" "0" "30" "18" "29125764" "29125764" "subst" "0.00000406309" "01943" "DSG2_000270" "g.29125764A>G" "" "" "" "DSG2(NM_001943.3):c.2415A>G (p.E805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545801A>G" "" "likely benign" "" "0000254467" "0" "30" "18" "29122643" "29122643" "subst" "0.0000365705" "01943" "DSG2_000261" "g.29122643A>G" "" "" "" "DSG2(NM_001943.3):c.2162A>G (p.H721R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542680A>G" "" "likely benign" "" "0000255014" "0" "30" "18" "29078224" "29078224" "subst" "0" "01943" "DSG2_000194" "g.29078224A>G" "" "" "" "DSG2(NM_001943.3):c.10A>G (p.S4G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498261A>G" "" "likely benign" "" "0000255319" "0" "30" "18" "29098254" "29098254" "subst" "0.000134126" "01943" "DSG2_000200" "g.29098254A>G" "" "" "" "DSG2(NM_001943.3):c.81+17A>G, DSG2(NM_001943.5):c.81+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31518291A>G" "" "likely benign" "" "0000255818" "0" "50" "18" "29104717" "29104717" "subst" "0.0000203202" "01943" "DSG2_000027" "g.29104717A>G" "" "" "" "DSG2(NM_001943.3):c.880A>G (p.K294E), DSG2(NM_001943.5):c.880A>G (p.K294E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524754A>G" "" "VUS" "" "0000255930" "0" "50" "18" "29116390" "29116390" "subst" "0" "01943" "DSG2_000242" "g.29116390A>G" "" "" "" "DSG2(NM_001943.3):c.1649A>G (p.E550G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31536427A>G" "" "VUS" "" "0000256336" "0" "50" "18" "29122621" "29122621" "subst" "0" "01943" "DSG2_000260" "g.29122621A>G" "" "" "" "DSG2(NM_001943.3):c.2140A>G (p.M714V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542658A>G" "" "VUS" "" "0000265496" "0" "50" "18" "29078210" "29078210" "del" "0" "02330" "DSG2_000191" "g.29078210del" "" "" "" "DSG2(NM_001943.5):c.-5delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498247del" "" "VUS" "" "0000265497" "0" "10" "18" "29104842" "29104842" "subst" "0" "02330" "DSG2_000233" "g.29104842C>T" "" "" "" "DSG2(NM_001943.5):c.1005C>T (p.T335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524879C>T" "" "benign" "" "0000265499" "0" "70" "18" "29111078" "29111078" "del" "0" "02330" "DSG2_000237" "g.29111078del" "" "" "" "DSG2(NM_001943.5):c.1143delT (p.N381Kfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31531115del" "" "likely pathogenic" "" "0000265500" "0" "10" "18" "29111109" "29111109" "subst" "0.00225959" "02330" "DSG2_000033" "g.29111109G>A" "" "" "" "DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31531146G>A" "" "benign" "" "0000265501" "0" "30" "18" "29099832" "29099832" "subst" "0.0000446897" "02330" "DSG2_000203" "g.29099832G>A" "" "" "" "DSG2(NM_001943.3):c.148G>A (p.A50T), DSG2(NM_001943.5):c.148G>A (p.A50T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31519869G>A" "" "likely benign" "" "0000265502" "0" "10" "18" "29116284" "29116284" "subst" "0.00207637" "02330" "DSG2_000037" "g.29116284G>A" "" "" "" "DSG2(NM_001943.3):c.1543G>A (p.V515I), DSG2(NM_001943.5):c.1543G>A (p.V515I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31536321G>A" "" "benign" "" "0000265503" "0" "10" "18" "29118913" "29118913" "subst" "0.000211823" "02330" "DSG2_000249" "g.29118913C>T" "" "" "" "DSG2(NM_001943.3):c.1851C>T (p.L617=), DSG2(NM_001943.5):c.1851C>T (p.L617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538950C>T" "" "benign" "" "0000265504" "0" "50" "18" "29121161" "29121161" "subst" "0" "02330" "DSG2_000252" "g.29121161C>A" "" "" "" "DSG2(NM_001943.5):c.1885C>A (p.P629T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541198C>A" "" "VUS" "" "0000265505" "0" "50" "18" "29121162" "29121162" "subst" "0" "02330" "DSG2_000253" "g.29121162C>A" "" "" "" "DSG2(NM_001943.5):c.1886C>A (p.P629Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541199C>A" "" "VUS" "" "0000265506" "0" "10" "18" "29121187" "29121187" "subst" "0.00261448" "02330" "DSG2_000140" "g.29121187C>T" "" "" "" "DSG2(NM_001943.3):c.1911C>T (p.C637=), DSG2(NM_001943.5):c.1911C>T (p.C637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541224C>T" "" "benign" "" "0000265507" "0" "10" "18" "29121280" "29121280" "subst" "0.00000813643" "02330" "DSG2_000257" "g.29121280C>G" "" "" "" "DSG2(NM_001943.3):c.2001+3C>G, DSG2(NM_001943.5):c.2001+3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541317C>G" "" "benign" "" "0000265508" "0" "10" "18" "29122618" "29122618" "subst" "0.0530993" "02330" "DSG2_000045" "g.29122618G>A" "" "" "" "DSG2(NM_001943.3):c.2137G>A (p.E713K), DSG2(NM_001943.5):c.2137G>A (p.E713K), DSG2-AS1(NR_045216.1):n.1811-334C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542655G>A" "" "benign" "" "0000265509" "0" "10" "18" "29099916" "29099916" "subst" "0.000796722" "02330" "DSG2_000204" "g.29099916G>A" "" "" "" "DSG2(NM_001943.3):c.216+16G>A, DSG2(NM_001943.5):c.216+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31519953G>A" "" "benign" "" "0000265510" "0" "10" "18" "29100761" "29100761" "subst" "0.00283295" "02330" "DSG2_000205" "g.29100761G>T" "" "" "" "DSG2(NM_001943.3):c.217-5G>T, DSG2(NM_001943.5):c.217-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520798G>T" "" "benign" "" "0000265511" "0" "10" "18" "29100771" "29100771" "subst" "0.0000447558" "02330" "DSG2_000207" "g.29100771T>C" "" "" "" "DSG2(NM_001943.3):c.222T>C (p.H74=), DSG2(NM_001943.5):c.222T>C (p.H74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520808T>C" "" "benign" "" "0000265512" "0" "10" "18" "29122799" "29122799" "subst" "0.265563" "02330" "DSG2_000046" "g.29122799G>A" "" "" "" "DSG2(NM_001943.3):c.2318G>A (p.R773K), DSG2(NM_001943.5):c.2318G>A (p.R773K), DSG2-AS1(NR_045216.1):n.1810+266C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542836G>A" "" "benign" "" "0000265513" "0" "10" "18" "29125676" "29125676" "subst" "0.0000736232" "02330" "DSG2_000267" "g.29125676C>G" "" "" "" "DSG2(NM_001943.5):c.2335-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545713C>G" "" "benign" "" "0000265514" "0" "10" "18" "29125689" "29125689" "subst" "0.0000529256" "02330" "DSG2_000268" "g.29125689G>T" "" "" "" "DSG2(NM_001943.3):c.2340G>T (p.A780=), DSG2(NM_001943.5):c.2340G>T (p.A780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545726G>T" "" "benign" "" "0000265515" "0" "50" "18" "29125783" "29125783" "subst" "0.0000243815" "02330" "DSG2_000149" "g.29125783G>A" "" "" "" "DSG2(NM_001943.3):c.2434G>A (p.G812S), DSG2(NM_001943.5):c.2434G>A (p.G812S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545820G>A" "" "VUS" "" "0000265516" "0" "10" "18" "29125833" "29125833" "subst" "0.000487928" "02330" "DSG2_000271" "g.29125833T>C" "" "" "" "DSG2(NM_001943.3):c.2484T>C (p.D828=), DSG2(NM_001943.5):c.2484T>C (p.D828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545870T>C" "" "benign" "" "0000265517" "0" "10" "18" "29125996" "29125996" "subst" "0.00160578" "02330" "DSG2_000052" "g.29125996T>C" "" "" "" "DSG2(NM_001943.3):c.2647T>C (p.S883P), DSG2(NM_001943.5):c.2647T>C (p.S883P), DSG2-AS1(NR_045216.1):n.1346-127A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546033T>C" "" "benign" "" "0000265518" "0" "10" "18" "29126057" "29126057" "subst" "0.00161188" "02330" "DSG2_000277" "g.29126057C>T" "" "" "" "DSG2(NM_001943.3):c.2708C>T (p.T903I), DSG2(NM_001943.5):c.2708C>T (p.T903I), DSG2-AS1(NR_045216.1):n.1346-188G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546094C>T" "" "benign" "" "0000265519" "0" "10" "18" "29126255" "29126255" "subst" "0.000449916" "02330" "DSG2_000280" "g.29126255C>T" "" "" "" "DSG2(NM_001943.3):c.2906C>T (p.A969V), DSG2(NM_001943.5):c.2906C>T (p.A969V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546292C>T" "" "benign" "" "0000265520" "0" "10" "18" "29126431" "29126431" "subst" "0.000467286" "02330" "DSG2_000282" "g.29126431G>A" "" "" "" "DSG2(NM_001943.3):c.3082G>A (p.G1028S), DSG2(NM_001943.5):c.3082G>A (p.G1028S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546468G>A" "" "benign" "" "0000265521" "0" "10" "18" "29126574" "29126574" "subst" "0.0000203242" "02330" "DSG2_000283" "g.29126574G>A" "" "" "" "DSG2(NM_001943.3):c.3225G>A (p.T1075=), DSG2(NM_001943.5):c.3225G>A (p.T1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546611G>A" "" "benign" "" "0000265522" "0" "10" "18" "29126592" "29126592" "subst" "0.0058088" "02330" "DSG2_000059" "g.29126592C>T" "" "" "" "DSG2(NM_001943.3):c.3243C>T (p.V1081=), DSG2(NM_001943.5):c.3243C>T (p.V1081=), DSG2-AS1(NR_045216.1):n.1346-723G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546629C>T" "" "benign" "" "0000265523" "0" "10" "18" "29126670" "29126670" "subst" "0.422014" "02330" "DSG2_000063" "g.29126670T>C" "" "" "" "DSG2(NM_001943.3):c.3321T>C (p.V1107=), DSG2(NM_001943.5):c.3321T>C (p.V1107=), DSG2-AS1(NR_045216.1):n.1346-801A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546707T>C" "" "benign" "" "0000265524" "0" "10" "18" "29078250" "29078250" "subst" "0" "02330" "DSG2_000195" "g.29078250G>A" "" "" "" "DSG2(NM_001943.5):c.36G>A (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498287G>A" "" "benign" "" "0000265525" "0" "90" "18" "29100928" "29100928" "subst" "0" "02330" "DSG2_000209" "g.29100928G>T" "" "" "" "DSG2(NM_001943.5):c.378+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520965G>T" "" "pathogenic" "" "0000265526" "0" "10" "18" "29101073" "29101073" "subst" "0.0000284713" "02330" "DSG2_000211" "g.29101073C>T" "" "" "" "DSG2(NM_001943.3):c.390C>T (p.Y130=), DSG2(NM_001943.5):c.390C>T (p.Y130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521110C>T" "" "benign" "" "0000265527" "0" "30" "18" "29101120" "29101120" "subst" "0.00037807" "02330" "DSG2_000103" "g.29101120G>T" "" "" "" "DSG2(NM_001943.3):c.437G>T (p.R146L), DSG2(NM_001943.5):c.437G>T (p.R146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521157G>T" "" "likely benign" "" "0000265528" "0" "30" "18" "29078258" "29078258" "subst" "0.000237229" "02330" "DSG2_000004" "g.29078258T>A" "" "" "" "DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498295T>A" "" "likely benign" "" "0000265529" "0" "10" "18" "29078275" "29078275" "subst" "0.000615114" "02330" "DSG2_000198" "g.29078275G>C" "" "" "" "DSG2(NM_001943.3):c.45+16G>C, DSG2(NM_001943.5):c.45+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498312G>C" "" "benign" "" "0000265530" "0" "10" "18" "29101228" "29101230" "del" "0" "02330" "DSG2_000215" "g.29101228_29101230del" "" "" "" "DSG2(NM_001943.5):c.523+22_523+24delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521265_31521267del" "" "benign" "" "0000265531" "0" "10" "18" "29101230" "29101230" "del" "0" "02330" "DSG2_000214" "g.29101230del" "" "" "" "DSG2(NM_001943.3):c.523+24delT, DSG2(NM_001943.5):c.523+24delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521267del" "" "benign" "" "0000265533" "0" "10" "18" "29102037" "29102037" "subst" "0.00545043" "02330" "DSG2_000018" "g.29102037T>A" "" "" "" "DSG2(NM_001943.3):c.524-9T>A, DSG2(NM_001943.5):c.524-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31522074T>A" "" "benign" "" "0000265534" "0" "10" "18" "29078220" "29078220" "subst" "0.0095311" "02330" "DSG2_000094" "g.29078220G>A" "" "" "" "DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498257G>A" "" "benign" "" "0000265535" "0" "10" "18" "29104503" "29104503" "subst" "0.000134441" "02330" "DSG2_000114" "g.29104503T>A" "" "" "" "DSG2(NM_001943.3):c.783T>A (p.R261=), DSG2(NM_001943.5):c.783T>A (p.R261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524540T>A" "" "benign" "" "0000265537" "0" "10" "18" "29104559" "29104559" "subst" "0.0000327099" "02330" "DSG2_000222" "g.29104559T>C" "" "" "" "DSG2(NM_001943.5):c.828+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524596T>C" "" "benign" "" "0000265538" "0" "10" "18" "29104564" "29104564" "subst" "0.255834" "02330" "DSG2_000023" "g.29104564C>A" "" "" "" "DSG2(NM_001943.3):c.828+16C>A, DSG2(NM_001943.5):c.828+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524601C>A" "" "benign" "" "0000265539" "0" "10" "18" "29104689" "29104689" "subst" "0.000483799" "02330" "DSG2_000090" "g.29104689T>C" "" "" "" "DSG2(NM_001943.3):c.852T>C (p.N284=), DSG2(NM_001943.5):c.852T>C (p.N284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524726T>C" "" "benign" "" "0000265540" "0" "10" "18" "29104698" "29104698" "subst" "0.407653" "02330" "DSG2_000025" "g.29104698C>T" "" "" "" "DSG2(NM_001943.3):c.861C>T (p.N287=), DSG2(NM_001943.5):c.861C>T (p.N287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524735C>T" "" "benign" "" "0000265541" "0" "50" "18" "29104699" "29104699" "subst" "0.0000487765" "02330" "DSG2_000228" "g.29104699G>A" "" "" "" "DSG2(NM_001943.5):c.862G>A (p.V288I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524736G>A" "" "VUS" "" "0000265542" "0" "50" "18" "29104726" "29104726" "subst" "0.00000812817" "02330" "DSG2_000028" "g.29104726G>A" "" "" "" "DSG2(NM_001943.5):c.889G>A (p.D297N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524763G>A" "" "VUS" "" "0000267554" "0" "30" "18" "29111109" "29111109" "subst" "0.00225959" "02325" "DSG2_000033" "g.29111109G>A" "" "" "" "DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31531146G>A" "" "likely benign" "" "0000267555" "0" "30" "18" "29118702" "29118702" "subst" "0.000403242" "02325" "DSG2_000131" "g.29118702C>T" "" "" "" "DSG2(NM_001943.3):c.1652-12C>T, DSG2(NM_001943.5):c.1652-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538739C>T" "" "likely benign" "" "0000267556" "0" "30" "18" "29118928" "29118928" "subst" "0.0000122353" "02325" "DSG2_000250" "g.29118928T>C" "" "" "" "DSG2(NM_001943.5):c.1866T>C (p.F622=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538965T>C" "" "likely benign" "" "0000267557" "0" "30" "18" "29118937" "29118937" "subst" "0.000367671" "02325" "DSG2_000042" "g.29118937G>C" "" "" "" "DSG2(NM_001943.3):c.1875G>C (p.L625=), DSG2(NM_001943.5):c.1875G>C (p.L625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538974G>C" "" "likely benign" "" "0000267558" "0" "50" "18" "29121188" "29121188" "subst" "0.000117915" "02325" "DSG2_000080" "g.29121188G>A" "" "" "" "DSG2(NM_001943.3):c.1912G>A (p.G638R), DSG2(NM_001943.5):c.1912G>A (p.G638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541225G>A" "" "VUS" "" "0000267559" "0" "50" "18" "29122544" "29122544" "subst" "0.00000812909" "02325" "DSG2_000258" "g.29122544G>A" "" "" "" "DSG2(NM_001943.5):c.2063G>A (p.G688E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542581G>A" "" "VUS" "" "0000267560" "0" "10" "18" "29122618" "29122618" "subst" "0.0530993" "02325" "DSG2_000045" "g.29122618G>A" "" "" "" "DSG2(NM_001943.3):c.2137G>A (p.E713K), DSG2(NM_001943.5):c.2137G>A (p.E713K), DSG2-AS1(NR_045216.1):n.1811-334C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542655G>A" "" "benign" "" "0000267561" "0" "30" "18" "29100761" "29100761" "subst" "0.00283295" "02325" "DSG2_000205" "g.29100761G>T" "" "" "" "DSG2(NM_001943.3):c.217-5G>T, DSG2(NM_001943.5):c.217-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520798G>T" "" "likely benign" "" "0000267562" "0" "50" "18" "29122688" "29122688" "subst" "0" "02325" "DSG2_000262" "g.29122688C>T" "" "" "" "DSG2(NM_001943.5):c.2207C>T (p.T736I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542725C>T" "" "VUS" "" "0000267563" "0" "30" "18" "29122692" "29122692" "subst" "0.000613612" "02325" "DSG2_000263" "g.29122692C>T" "" "" "" "DSG2(NM_001943.3):c.2211C>T (p.G737=), DSG2(NM_001943.5):c.2211C>T (p.G737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542729C>T" "" "likely benign" "" "0000267564" "0" "30" "18" "29100771" "29100771" "subst" "0.0000447558" "02325" "DSG2_000207" "g.29100771T>C" "" "" "" "DSG2(NM_001943.3):c.222T>C (p.H74=), DSG2(NM_001943.5):c.222T>C (p.H74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520808T>C" "" "likely benign" "" "0000267565" "0" "10" "18" "29122799" "29122799" "subst" "0.265563" "02325" "DSG2_000046" "g.29122799G>A" "" "" "" "DSG2(NM_001943.3):c.2318G>A (p.R773K), DSG2(NM_001943.5):c.2318G>A (p.R773K), DSG2-AS1(NR_045216.1):n.1810+266C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542836G>A" "" "benign" "" "0000267566" "0" "30" "18" "29125833" "29125833" "subst" "0.000487928" "02325" "DSG2_000271" "g.29125833T>C" "" "" "" "DSG2(NM_001943.3):c.2484T>C (p.D828=), DSG2(NM_001943.5):c.2484T>C (p.D828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545870T>C" "" "likely benign" "" "0000267567" "0" "30" "18" "29126235" "29126235" "subst" "0.000613791" "02325" "DSG2_000160" "g.29126235T>G" "" "" "" "DSG2(NM_001943.3):c.2886T>G (p.I962M), DSG2(NM_001943.5):c.2886T>G (p.I962M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546272T>G" "" "likely benign" "" "0000267568" "0" "30" "18" "29126574" "29126574" "subst" "0.0000203242" "02325" "DSG2_000283" "g.29126574G>A" "" "" "" "DSG2(NM_001943.3):c.3225G>A (p.T1075=), DSG2(NM_001943.5):c.3225G>A (p.T1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546611G>A" "" "likely benign" "" "0000267569" "0" "30" "18" "29126592" "29126592" "subst" "0.0058088" "02325" "DSG2_000059" "g.29126592C>T" "" "" "" "DSG2(NM_001943.3):c.3243C>T (p.V1081=), DSG2(NM_001943.5):c.3243C>T (p.V1081=), DSG2-AS1(NR_045216.1):n.1346-723G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546629C>T" "" "likely benign" "" "0000267570" "0" "50" "18" "29126596" "29126596" "subst" "0" "02325" "DSG2_000060" "g.29126596G>A" "" "" "" "DSG2(NM_001943.5):c.3247G>A (p.G1083S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546633G>A" "" "VUS" "" "0000267571" "0" "10" "18" "29126670" "29126670" "subst" "0.422014" "02325" "DSG2_000063" "g.29126670T>C" "" "" "" "DSG2(NM_001943.3):c.3321T>C (p.V1107=), DSG2(NM_001943.5):c.3321T>C (p.V1107=), DSG2-AS1(NR_045216.1):n.1346-801A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546707T>C" "" "benign" "" "0000267572" "0" "30" "18" "29101073" "29101073" "subst" "0.0000284713" "02325" "DSG2_000211" "g.29101073C>T" "" "" "" "DSG2(NM_001943.3):c.390C>T (p.Y130=), DSG2(NM_001943.5):c.390C>T (p.Y130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521110C>T" "" "likely benign" "" "0000267573" "0" "30" "18" "29101120" "29101120" "subst" "0.00037807" "02325" "DSG2_000103" "g.29101120G>T" "" "" "" "DSG2(NM_001943.3):c.437G>T (p.R146L), DSG2(NM_001943.5):c.437G>T (p.R146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521157G>T" "" "likely benign" "" "0000267574" "0" "50" "18" "29101149" "29101149" "subst" "0.0000203307" "02325" "DSG2_000212" "g.29101149G>A" "" "" "" "DSG2(NM_001943.3):c.466G>A (p.E156K), DSG2(NM_001943.5):c.466G>A (p.E156K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521186G>A" "" "VUS" "" "0000267575" "0" "50" "18" "29102136" "29102136" "subst" "0.00000406359" "02325" "DSG2_000019" "g.29102136C>T" "" "" "" "DSG2(NM_001943.5):c.614C>T (p.P205L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31522173C>T" "" "VUS" "" "0000267576" "0" "30" "18" "29078220" "29078220" "subst" "0.0095311" "02325" "DSG2_000094" "g.29078220G>A" "" "" "" "DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498257G>A" "" "likely benign" "" "0000267577" "0" "10" "18" "29104564" "29104564" "subst" "0.255834" "02325" "DSG2_000023" "g.29104564C>A" "" "" "" "DSG2(NM_001943.3):c.828+16C>A, DSG2(NM_001943.5):c.828+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524601C>A" "" "benign" "" "0000267578" "0" "30" "18" "29104689" "29104689" "subst" "0.000483799" "02325" "DSG2_000090" "g.29104689T>C" "" "" "" "DSG2(NM_001943.3):c.852T>C (p.N284=), DSG2(NM_001943.5):c.852T>C (p.N284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524726T>C" "" "likely benign" "" "0000267579" "0" "10" "18" "29104698" "29104698" "subst" "0.407653" "02325" "DSG2_000025" "g.29104698C>T" "" "" "" "DSG2(NM_001943.3):c.861C>T (p.N287=), DSG2(NM_001943.5):c.861C>T (p.N287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524735C>T" "" "benign" "" "0000270917" "0" "70" "18" "29111007" "29111007" "subst" "0.00000812922" "02326" "DSG2_000125" "g.29111007G>A" "" "" "" "DSG2(NM_001943.3):c.1072G>A (p.A358T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31531044G>A" "" "likely pathogenic" "" "0000270918" "0" "10" "18" "29111109" "29111109" "subst" "0.00225959" "02326" "DSG2_000033" "g.29111109G>A" "" "" "" "DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31531146G>A" "" "benign" "" "0000270919" "0" "90" "18" "29099821" "29099821" "subst" "0" "02326" "DSG2_000006" "g.29099821G>A" "" "" "" "DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31519858G>A" "" "pathogenic" "" "0000270920" "0" "10" "18" "29116284" "29116284" "subst" "0.00207637" "02326" "DSG2_000037" "g.29116284G>A" "" "" "" "DSG2(NM_001943.3):c.1543G>A (p.V515I), DSG2(NM_001943.5):c.1543G>A (p.V515I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31536321G>A" "" "benign" "" "0000270921" "0" "30" "18" "29116384" "29116384" "subst" "0.0000613653" "02326" "DSG2_000241" "g.29116384G>A" "" "" "" "DSG2(NM_001943.3):c.1643G>A (p.R548H), DSG2(NM_001943.5):c.1643G>A (p.R548H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31536421G>A" "" "likely benign" "" "0000270922" "0" "50" "18" "29118854" "29118854" "subst" "0.0000284831" "02326" "DSG2_000246" "g.29118854G>A" "" "" "" "DSG2(NM_001943.3):c.1792G>A (p.G598S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538891G>A" "" "VUS" "" "0000270923" "0" "50" "18" "29118899" "29118899" "subst" "0.000016289" "02326" "DSG2_000138" "g.29118899G>A" "" "" "" "DSG2(NM_001943.3):c.1837G>A (p.A613T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538936G>A" "" "VUS" "" "0000270924" "0" "30" "18" "29118909" "29118909" "subst" "0.000150732" "02326" "DSG2_000139" "g.29118909C>T" "" "" "" "DSG2(NM_001943.3):c.1847C>T (p.A616V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538946C>T" "" "likely benign" "" "0000270925" "0" "30" "18" "29118913" "29118913" "subst" "0.000211823" "02326" "DSG2_000249" "g.29118913C>T" "" "" "" "DSG2(NM_001943.3):c.1851C>T (p.L617=), DSG2(NM_001943.5):c.1851C>T (p.L617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538950C>T" "" "likely benign" "" "0000270926" "0" "50" "18" "29121188" "29121188" "subst" "0.000117915" "02326" "DSG2_000080" "g.29121188G>A" "" "" "" "DSG2(NM_001943.3):c.1912G>A (p.G638R), DSG2(NM_001943.5):c.1912G>A (p.G638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541225G>A" "" "VUS" "" "0000270927" "0" "10" "18" "29122618" "29122618" "subst" "0.0530993" "02326" "DSG2_000045" "g.29122618G>A" "" "" "" "DSG2(NM_001943.3):c.2137G>A (p.E713K), DSG2(NM_001943.5):c.2137G>A (p.E713K), DSG2-AS1(NR_045216.1):n.1811-334C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542655G>A" "" "benign" "" "0000270928" "0" "10" "18" "29100761" "29100761" "subst" "0.00283295" "02326" "DSG2_000205" "g.29100761G>T" "" "" "" "DSG2(NM_001943.3):c.217-5G>T, DSG2(NM_001943.5):c.217-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520798G>T" "" "benign" "" "0000270929" "0" "30" "18" "29100771" "29100771" "subst" "0.0000447558" "02326" "DSG2_000207" "g.29100771T>C" "" "" "" "DSG2(NM_001943.3):c.222T>C (p.H74=), DSG2(NM_001943.5):c.222T>C (p.H74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520808T>C" "" "likely benign" "" "0000270930" "0" "50" "18" "29122781" "29122781" "subst" "0.00000459255" "02326" "DSG2_000264" "g.29122781T>G" "" "" "" "DSG2(NM_001943.3):c.2300T>G (p.L767R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542818T>G" "" "VUS" "" "0000270931" "0" "10" "18" "29122799" "29122799" "subst" "0.265563" "02326" "DSG2_000046" "g.29122799G>A" "" "" "" "DSG2(NM_001943.3):c.2318G>A (p.R773K), DSG2(NM_001943.5):c.2318G>A (p.R773K), DSG2-AS1(NR_045216.1):n.1810+266C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542836G>A" "" "benign" "" "0000270932" "0" "30" "18" "29125689" "29125689" "subst" "0.0000162848" "02326" "DSG2_000147" "g.29125689G>A" "" "" "" "DSG2(NM_001943.3):c.2340G>A (p.A780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545726G>A" "" "likely benign" "" "0000270933" "0" "30" "18" "29125992" "29125992" "subst" "0.000232353" "02326" "DSG2_000274" "g.29125992C>T" "" "" "" "DSG2(NM_001943.3):c.2643C>T (p.T881=), DSG2(NM_001943.5):c.2643C>T (p.T881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546029C>T" "" "likely benign" "" "0000270934" "0" "10" "18" "29125996" "29125996" "subst" "0.00160578" "02326" "DSG2_000052" "g.29125996T>C" "" "" "" "DSG2(NM_001943.3):c.2647T>C (p.S883P), DSG2(NM_001943.5):c.2647T>C (p.S883P), DSG2-AS1(NR_045216.1):n.1346-127A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546033T>C" "" "benign" "" "0000270935" "0" "10" "18" "29126057" "29126057" "subst" "0.00161188" "02326" "DSG2_000277" "g.29126057C>T" "" "" "" "DSG2(NM_001943.3):c.2708C>T (p.T903I), DSG2(NM_001943.5):c.2708C>T (p.T903I), DSG2-AS1(NR_045216.1):n.1346-188G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546094C>T" "" "benign" "" "0000270936" "0" "10" "18" "29126255" "29126255" "subst" "0.000449916" "02326" "DSG2_000280" "g.29126255C>T" "" "" "" "DSG2(NM_001943.3):c.2906C>T (p.A969V), DSG2(NM_001943.5):c.2906C>T (p.A969V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546292C>T" "" "benign" "" "0000270937" "0" "30" "18" "29126344" "29126344" "subst" "0.0000122007" "02326" "DSG2_000281" "g.29126344T>C" "" "" "" "DSG2(NM_001943.3):c.2995T>C (p.S999P), DSG2(NM_001943.5):c.2995T>C (p.S999P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546381T>C" "" "likely benign" "" "0000270938" "0" "10" "18" "29126592" "29126592" "subst" "0.0058088" "02326" "DSG2_000059" "g.29126592C>T" "" "" "" "DSG2(NM_001943.3):c.3243C>T (p.V1081=), DSG2(NM_001943.5):c.3243C>T (p.V1081=), DSG2-AS1(NR_045216.1):n.1346-723G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546629C>T" "" "benign" "" "0000270939" "0" "10" "18" "29126670" "29126670" "subst" "0.422014" "02326" "DSG2_000063" "g.29126670T>C" "" "" "" "DSG2(NM_001943.3):c.3321T>C (p.V1107=), DSG2(NM_001943.5):c.3321T>C (p.V1107=), DSG2-AS1(NR_045216.1):n.1346-801A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546707T>C" "" "benign" "" "0000270940" "0" "90" "18" "29100929" "29100929" "subst" "0" "02326" "DSG2_000067" "g.29100929T>G" "" "" "" "DSG2(NM_001943.3):c.378+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520966T>G" "" "pathogenic" "" "0000270941" "0" "30" "18" "29101120" "29101120" "subst" "0.00037807" "02326" "DSG2_000103" "g.29101120G>T" "" "" "" "DSG2(NM_001943.3):c.437G>T (p.R146L), DSG2(NM_001943.5):c.437G>T (p.R146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521157G>T" "" "likely benign" "" "0000270942" "0" "30" "18" "29078258" "29078258" "subst" "0.000237229" "02326" "DSG2_000004" "g.29078258T>A" "" "" "" "DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498295T>A" "" "likely benign" "" "0000270943" "0" "30" "18" "29078269" "29078269" "subst" "0" "02326" "DSG2_000197" "g.29078269G>T" "" "" "" "DSG2(NM_001943.3):c.45+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498306G>T" "" "likely benign" "" "0000270944" "0" "10" "18" "29101230" "29101230" "del" "0" "02326" "DSG2_000214" "g.29101230del" "" "" "" "DSG2(NM_001943.3):c.523+24delT, DSG2(NM_001943.5):c.523+24delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521267del" "" "benign" "" "0000270945" "0" "10" "18" "29102037" "29102037" "subst" "0.00545043" "02326" "DSG2_000018" "g.29102037T>A" "" "" "" "DSG2(NM_001943.3):c.524-9T>A, DSG2(NM_001943.5):c.524-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31522074T>A" "" "benign" "" "0000270946" "0" "10" "18" "29078220" "29078220" "subst" "0.0095311" "02326" "DSG2_000094" "g.29078220G>A" "" "" "" "DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498257G>A" "" "benign" "" "0000270947" "0" "10" "18" "29104503" "29104503" "subst" "0.000134441" "02326" "DSG2_000114" "g.29104503T>A" "" "" "" "DSG2(NM_001943.3):c.783T>A (p.R261=), DSG2(NM_001943.5):c.783T>A (p.R261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524540T>A" "" "benign" "" "0000270948" "0" "70" "18" "29099765" "29099765" "subst" "0" "02326" "DSG2_000201" "g.29099765G>T" "" "" "" "DSG2(NM_001943.3):c.82-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31519802G>T" "" "likely pathogenic" "" "0000270949" "0" "10" "18" "29104564" "29104564" "subst" "0.255834" "02326" "DSG2_000023" "g.29104564C>A" "" "" "" "DSG2(NM_001943.3):c.828+16C>A, DSG2(NM_001943.5):c.828+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524601C>A" "" "benign" "" "0000270950" "0" "30" "18" "29104689" "29104689" "subst" "0.000483799" "02326" "DSG2_000090" "g.29104689T>C" "" "" "" "DSG2(NM_001943.3):c.852T>C (p.N284=), DSG2(NM_001943.5):c.852T>C (p.N284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524726T>C" "" "likely benign" "" "0000270951" "0" "10" "18" "29104698" "29104698" "subst" "0.407653" "02326" "DSG2_000025" "g.29104698C>T" "" "" "" "DSG2(NM_001943.3):c.861C>T (p.N287=), DSG2(NM_001943.5):c.861C>T (p.N287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524735C>T" "" "benign" "" "0000270952" "0" "50" "18" "29104711" "29104711" "subst" "0.0000487745" "02326" "DSG2_000117" "g.29104711C>T" "" "" "" "DSG2(NM_001943.3):c.874C>T (p.R292C), DSG2(NM_001943.5):c.874C>T (p.R292C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524748C>T" "" "VUS" "" "0000275560" "0" "50" "18" "29078209" "29078209" "subst" "0" "01943" "DSG2_000192" "g.29078209G>A" "" "" "" "DSG2(NM_001943.3):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498246G>A" "" "VUS" "" "0000275561" "0" "30" "18" "29111054" "29111054" "subst" "0.00000406408" "01943" "DSG2_000236" "g.29111054T>C" "" "" "" "DSG2(NM_001943.3):c.1119T>C (p.I373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31531091T>C" "" "likely benign" "" "0000275562" "0" "30" "18" "29111109" "29111109" "subst" "0.00225959" "01943" "DSG2_000033" "g.29111109G>A" "" "" "" "DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31531146G>A" "" "likely benign" "" "0000275563" "0" "50" "18" "29116237" "29116237" "subst" "0" "01943" "DSG2_000238" "g.29116237T>C" "" "" "" "DSG2(NM_001943.3):c.1496T>C (p.L499P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31536274T>C" "" "VUS" "" "0000275564" "0" "10" "18" "29116284" "29116284" "subst" "0.00207637" "01943" "DSG2_000037" "g.29116284G>A" "" "" "" "DSG2(NM_001943.3):c.1543G>A (p.V515I), DSG2(NM_001943.5):c.1543G>A (p.V515I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31536321G>A" "" "benign" "" "0000275565" "0" "30" "18" "29116338" "29116338" "subst" "0.000296794" "01943" "DSG2_000240" "g.29116338G>A" "" "" "" "DSG2(NM_001943.3):c.1597G>A (p.V533I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31536375G>A" "" "likely benign" "" "0000275566" "0" "10" "18" "29118699" "29118699" "subst" "0" "01943" "DSG2_000243" "g.29118699C>T" "" "" "" "DSG2(NM_001943.3):c.1652-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538736C>T" "" "benign" "" "0000275567" "0" "30" "18" "29118843" "29118843" "subst" "0.000626546" "01943" "DSG2_000136" "g.29118843T>C" "" "" "" "DSG2(NM_001943.3):c.1781T>C (p.L594P), DSG2(NM_001943.5):c.1781T>C (p.L594P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538880T>C" "" "likely benign" "" "0000275568" "0" "30" "18" "29118913" "29118913" "subst" "0.000211823" "01943" "DSG2_000249" "g.29118913C>T" "" "" "" "DSG2(NM_001943.3):c.1851C>T (p.L617=), DSG2(NM_001943.5):c.1851C>T (p.L617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538950C>T" "" "likely benign" "" "0000275569" "0" "30" "18" "29118937" "29118937" "subst" "0.000367671" "01943" "DSG2_000042" "g.29118937G>C" "" "" "" "DSG2(NM_001943.3):c.1875G>C (p.L625=), DSG2(NM_001943.5):c.1875G>C (p.L625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31538974G>C" "" "likely benign" "" "0000275570" "0" "30" "18" "29121187" "29121187" "subst" "0.00261448" "01943" "DSG2_000140" "g.29121187C>T" "" "" "" "DSG2(NM_001943.3):c.1911C>T (p.C637=), DSG2(NM_001943.5):c.1911C>T (p.C637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31541224C>T" "" "likely benign" "" "0000275571" "0" "10" "18" "29122618" "29122618" "subst" "0.0530993" "01943" "DSG2_000045" "g.29122618G>A" "" "" "" "DSG2(NM_001943.3):c.2137G>A (p.E713K), DSG2(NM_001943.5):c.2137G>A (p.E713K), DSG2-AS1(NR_045216.1):n.1811-334C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542655G>A" "" "benign" "" "0000275572" "0" "10" "18" "29100761" "29100761" "subst" "0.00283295" "01943" "DSG2_000205" "g.29100761G>T" "" "" "" "DSG2(NM_001943.3):c.217-5G>T, DSG2(NM_001943.5):c.217-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520798G>T" "" "benign" "" "0000275573" "0" "30" "18" "29100771" "29100771" "subst" "0.0000447558" "01943" "DSG2_000207" "g.29100771T>C" "" "" "" "DSG2(NM_001943.3):c.222T>C (p.H74=), DSG2(NM_001943.5):c.222T>C (p.H74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31520808T>C" "" "likely benign" "" "0000275574" "0" "50" "18" "29122786" "29122786" "subst" "0.0000472411" "01943" "DSG2_000265" "g.29122786G>A" "" "" "" "DSG2(NM_001943.3):c.2305G>A (p.E769K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542823G>A" "" "VUS" "" "0000275575" "0" "10" "18" "29122799" "29122799" "subst" "0.265563" "01943" "DSG2_000046" "g.29122799G>A" "" "" "" "DSG2(NM_001943.3):c.2318G>A (p.R773K), DSG2(NM_001943.5):c.2318G>A (p.R773K), DSG2-AS1(NR_045216.1):n.1810+266C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31542836G>A" "" "benign" "" "0000275576" "0" "50" "18" "29125783" "29125783" "subst" "0.0000243815" "01943" "DSG2_000149" "g.29125783G>A" "" "" "" "DSG2(NM_001943.3):c.2434G>A (p.G812S), DSG2(NM_001943.5):c.2434G>A (p.G812S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31545820G>A" "" "VUS" "" "0000275577" "0" "30" "18" "29125992" "29125992" "subst" "0.000232353" "01943" "DSG2_000274" "g.29125992C>T" "" "" "" "DSG2(NM_001943.3):c.2643C>T (p.T881=), DSG2(NM_001943.5):c.2643C>T (p.T881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546029C>T" "" "likely benign" "" "0000275578" "0" "10" "18" "29125996" "29125996" "subst" "0.00160578" "01943" "DSG2_000052" "g.29125996T>C" "" "" "" "DSG2(NM_001943.3):c.2647T>C (p.S883P), DSG2(NM_001943.5):c.2647T>C (p.S883P), DSG2-AS1(NR_045216.1):n.1346-127A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546033T>C" "" "benign" "" "0000275579" "0" "10" "18" "29126057" "29126057" "subst" "0.00161188" "01943" "DSG2_000277" "g.29126057C>T" "" "" "" "DSG2(NM_001943.3):c.2708C>T (p.T903I), DSG2(NM_001943.5):c.2708C>T (p.T903I), DSG2-AS1(NR_045216.1):n.1346-188G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546094C>T" "" "benign" "" "0000275580" "0" "30" "18" "29126099" "29126099" "subst" "0.000146478" "01943" "DSG2_000155" "g.29126099C>T" "" "" "" "DSG2(NM_001943.3):c.2750C>T (p.A917V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546136C>T" "" "likely benign" "" "0000275581" "0" "30" "18" "29126229" "29126229" "subst" "0.00000420352" "01943" "DSG2_000278" "g.29126229C>A" "" "" "" "DSG2(NM_001943.3):c.2880C>A (p.S960R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546266C>A" "" "likely benign" "" "0000275582" "0" "30" "18" "29126431" "29126431" "subst" "0.000467286" "01943" "DSG2_000282" "g.29126431G>A" "" "" "" "DSG2(NM_001943.3):c.3082G>A (p.G1028S), DSG2(NM_001943.5):c.3082G>A (p.G1028S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546468G>A" "" "likely benign" "" "0000275583" "0" "10" "18" "29126592" "29126592" "subst" "0.0058088" "01943" "DSG2_000059" "g.29126592C>T" "" "" "" "DSG2(NM_001943.3):c.3243C>T (p.V1081=), DSG2(NM_001943.5):c.3243C>T (p.V1081=), DSG2-AS1(NR_045216.1):n.1346-723G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546629C>T" "" "benign" "" "0000275584" "0" "10" "18" "29126670" "29126670" "subst" "0.422014" "01943" "DSG2_000063" "g.29126670T>C" "" "" "" "DSG2(NM_001943.3):c.3321T>C (p.V1107=), DSG2(NM_001943.5):c.3321T>C (p.V1107=), DSG2-AS1(NR_045216.1):n.1346-801A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31546707T>C" "" "benign" "" "0000275585" "0" "30" "18" "29101073" "29101073" "subst" "0.0000284713" "01943" "DSG2_000211" "g.29101073C>T" "" "" "" "DSG2(NM_001943.3):c.390C>T (p.Y130=), DSG2(NM_001943.5):c.390C>T (p.Y130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521110C>T" "" "likely benign" "" "0000275586" "0" "30" "18" "29101120" "29101120" "subst" "0.00037807" "01943" "DSG2_000103" "g.29101120G>T" "" "" "" "DSG2(NM_001943.3):c.437G>T (p.R146L), DSG2(NM_001943.5):c.437G>T (p.R146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521157G>T" "" "likely benign" "" "0000275587" "0" "10" "18" "29078275" "29078275" "subst" "0.000615114" "01943" "DSG2_000198" "g.29078275G>C" "" "" "" "DSG2(NM_001943.3):c.45+16G>C, DSG2(NM_001943.5):c.45+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498312G>C" "" "benign" "" "0000275588" "0" "10" "18" "29101230" "29101230" "del" "0" "01943" "DSG2_000216" "g.29101230del" "" "" "" "DSG2(NM_001943.3):c.523+24delT, DSG2(NM_001943.5):c.523+24delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31521267del" "" "benign" "" "0000275589" "0" "10" "18" "29102037" "29102037" "subst" "0.00545043" "01943" "DSG2_000018" "g.29102037T>A" "" "" "" "DSG2(NM_001943.3):c.524-9T>A, DSG2(NM_001943.5):c.524-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31522074T>A" "" "benign" "" "0000275590" "0" "30" "18" "29098253" "29098253" "subst" "0.000134131" "01943" "DSG2_000199" "g.29098253G>T" "" "" "" "DSG2(NM_001943.3):c.81+16G>T, DSG2(NM_001943.5):c.81+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31518290G>T" "" "likely benign" "" "0000275591" "0" "10" "18" "29104564" "29104564" "subst" "0.255834" "01943" "DSG2_000023" "g.29104564C>A" "" "" "" "DSG2(NM_001943.3):c.828+16C>A, DSG2(NM_001943.5):c.828+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524601C>A" "" "benign" "" "0000275592" "0" "30" "18" "29104651" "29104651" "subst" "0" "01943" "DSG2_000224" "g.29104651G>C" "" "" "" "DSG2(NM_001943.3):c.829-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524688G>C" "" "likely benign" "" "0000275593" "0" "30" "18" "29104689" "29104689" "subst" "0.000483799" "01943" "DSG2_000090" "g.29104689T>C" "" "" "" "DSG2(NM_001943.3):c.852T>C (p.N284=), DSG2(NM_001943.5):c.852T>C (p.N284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524726T>C" "" "likely benign" "" "0000275594" "0" "10" "18" "29104698" "29104698" "subst" "0.407653" "01943" "DSG2_000025" "g.29104698C>T" "" "" "" "DSG2(NM_001943.3):c.861C>T (p.N287=), DSG2(NM_001943.5):c.861C>T (p.N287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31524735C>T" "" "benign" "" "0000325864" "0" "30" "18" "29078258" "29078258" "subst" "0.000237229" "01804" "DSG2_000004" "g.29078258T>A" "" "" "" "DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31498295T>A" "" "likely benign" "" "0000391984" "21" "30" "18" "29126108" "29126108" "subst" "0.00361275" "02529" "DSG2_000055" "g.29126108T>G" "1/276 to 1/306 individuals general population" "" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.29126108T>G" "" "likely benign" "" "0000441322" "0" "11" "18" "29100701" "29100701" "subst" "0" "00802" "DSG2_000009" "g.29100701C>G" "" "" "" "" "" "Germline" "" "rs2155944" "0" "" "" "g.31520738C>G" "" "benign" "" "0000441323" "0" "11" "18" "29100815" "29100815" "subst" "0.000935324" "00802" "DSG2_000012" "g.29100815A>G" "" "" "" "" "" "Germline" "" "rs2230232" "0" "" "" "g.31520852A>G" "" "benign" "" "0000441324" "0" "11" "18" "29101230" "29101230" "subst" "0.0970179" "00802" "DSG2_000017" "g.29101230T>A" "" "" "" "" "" "Germline" "" "rs55657337" "0" "" "" "g.31521267T>A" "" "benign" "" "0000441325" "0" "11" "18" "29102274" "29102278" "del" "0" "00802" "DSG2_000020" "g.29102274_29102278del" "" "" "" "690+62_690+66delTTTTT" "" "Germline" "" "rs10544776" "0" "" "" "g.31522311_31522315del" "" "benign" "" "0000441326" "0" "11" "18" "29104328" "29104328" "subst" "0" "00802" "DSG2_000021" "g.29104328C>T" "" "" "" "" "" "Germline" "" "rs3737377" "0" "" "" "g.31524365C>T" "" "benign" "" "0000441327" "0" "11" "18" "29116284" "29116284" "subst" "0.00207637" "00802" "DSG2_000037" "g.29116284G>A" "" "" "" "" "" "Germline" "" "rs2230235" "0" "" "" "g.31536321G>A" "" "benign" "" "0000441328" "0" "11" "18" "29118937" "29118937" "subst" "0.000367671" "00802" "DSG2_000042" "g.29118937G>C" "" "" "" "" "" "Germline" "" "rs35743180" "0" "" "" "g.31538974G>C" "" "benign" "" "0000441329" "0" "11" "18" "29122847" "29122847" "subst" "0" "00802" "DSG2_000047" "g.29122847G>A" "" "" "" "" "" "Germline" "" "rs7239307" "0" "" "" "g.31542884G>A" "" "benign" "" "0000441330" "0" "11" "18" "29122908" "29122908" "subst" "0" "00802" "DSG2_000048" "g.29122908A>C" "" "" "" "" "" "Germline" "" "rs2848678" "0" "" "" "g.31542945A>C" "" "benign" "" "0000441331" "0" "11" "18" "29125936" "29125936" "subst" "0.00162836" "00802" "DSG2_000051" "g.29125936A>C" "" "" "" "" "" "Germline" "" "rs16962093" "0" "" "" "g.31545973A>C" "" "benign" "" "0000441332" "0" "11" "18" "29125996" "29125996" "subst" "0.00160578" "00802" "DSG2_000052" "g.29125996T>C" "" "" "" "" "" "Germline" "" "rs34417028" "0" "" "" "g.31546033T>C" "" "benign" "" "0000441333" "0" "11" "18" "29126055" "29126055" "subst" "0" "00802" "DSG2_000054" "g.29126055C>T" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs34065672" "0" "" "" "" "" "benign" "" "0000441334" "0" "11" "18" "29126484" "29126484" "subst" "0.00169036" "00802" "DSG2_000056" "g.29126484A>C" "" "" "" "" "" "Germline" "" "rs8095704" "0" "" "" "g.31546521A>C" "" "benign" "" "0000441335" "0" "11" "18" "29126502" "29126502" "subst" "0" "00802" "DSG2_000057" "g.29126502C>T" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs2848674" "0" "" "" "" "" "benign" "" "0000441336" "0" "11" "18" "29126592" "29126592" "subst" "0.0058088" "00802" "DSG2_000059" "g.29126592C>T" "" "" "" "" "" "Germline" "" "rs11542379" "0" "" "" "g.31546629C>T" "" "benign" "" "0000441337" "0" "15" "18" "29126642" "29126642" "subst" "0" "00802" "DSG2_000061" "g.29126642C>T" "" "" "" "" "" "Germline" "" "rs2848673" "0" "" "" "g.31546679C>T" "" "benign" "" "0000441338" "0" "15" "18" "29126663" "29126663" "subst" "0" "00802" "DSG2_000062" "g.29126663C>T" "" "" "" "" "" "Germline" "" "rs3211319" "0" "" "" "g.31546700C>T" "" "benign" "" "0000441339" "0" "11" "18" "29104689" "29104689" "subst" "0.000483799" "00802" "DSG2_000090" "g.29104689T>C" "" "" "" "" "" "Germline" "" "rs62095193" "0" "" "" "g.31524726T>C" "" "benign" "" "0000441573" "0" "15" "18" "29078164" "29078164" "subst" "0" "00802" "DSG2_000001" "g.29078164G>C" "" "unpublished, ARVD/C database 7599" "" "" "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" "" "0000441574" "0" "15" "18" "29078179" "29078179" "subst" "0" "00802" "DSG2_000002" "g.29078179G>C" "" "{PMID:Posch:18678517}, ARVD/C database 7600" "" "" "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" "" "0000441575" "0" "11" "18" "29098323" "29098323" "subst" "0" "00802" "DSG2_000005" "g.29098323G>A" "" "{PMID:Posch:18678517}, ARVD/C database 7601" "" "" "" "Germline" "" "rs2276149" "0" "" "" "g.31518360G>A" "" "benign" "" "0000441576" "0" "99" "18" "29078217" "29078217" "subst" "0" "00802" "DSG2_000003" "g.29078217G>C" "" "{PMID:Syrris:17105751}, ARVD/C database 7537" "" "" "predicted abolition of translation initiation" "Germline" "" "" "0" "" "" "g.31498254G>C" "" "pathogenic" "" "0000441577" "0" "55" "18" "29078258" "29078258" "subst" "0.000237229" "00802" "DSG2_000004" "g.29078258T>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7633" "" "" "" "Germline" "" "" "0" "" "" "g.31498295T>A" "" "VUS" "" "0000441578" "0" "97" "18" "29099821" "29099821" "subst" "0" "00802" "DSG2_000006" "g.29099821G>A" "" "{PMID:Awad:16773573}, ARVD/C database 7538" "" "134G>A" "" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "pathogenic" "" "0000441579" "1" "97" "18" "29099821" "29099821" "subst" "0" "00802" "DSG2_000006" "g.29099821G>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7538" "" "134G>A" "" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "pathogenic" "" "0000441580" "0" "97" "18" "29099830" "29099830" "subst" "0.00000406279" "00802" "DSG2_000007" "g.29099830G>A" "" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7539" "" "143G>A" "Compound heterozygote: DSG2 p.Arg49His and p.Trp306X" "Germline" "" "" "0" "" "" "g.31519867G>A" "" "pathogenic" "" "0000441581" "0" "99" "18" "29104755" "29104755" "subst" "0" "00802" "DSG2_000029" "g.29104755G>A" "" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7555" "" "915G>A" "Compound heterozygote: DSG2 p.Arg49His and p.Trp306X" "Germline" "" "" "0" "" "" "g.31524792G>A" "" "pathogenic" "" "0000441582" "0" "97" "18" "29099830" "29099830" "subst" "0.00000406279" "00802" "DSG2_000007" "g.29099830G>A" "" "{PMID:Gandjbakhch:19151369}, ARVD/C database 7539" "" "143G>A" "" "De novo" "" "" "0" "" "" "g.31519867G>A" "" "pathogenic" "" "0000441583" "0" "55" "18" "29099850" "29099850" "subst" "0.00186884" "00802" "DSG2_000008" "g.29099850G>A" "" "{PMID:Syrris:17105751}, ARVD/C database 7540" "" "" "" "Germline" "" "" "0" "" "" "g.31519887G>A" "" "VUS" "" "0000441584" "0" "55" "18" "29099850" "29099850" "subst" "0.00186884" "00802" "DSG2_000008" "g.29099850G>A" "" "{PMID:Posch:18678517}, ARVD/C database 7540" "" "" "" "Germline" "" "" "0" "" "" "g.31519887G>A" "" "VUS" "" "0000441585" "0" "55" "18" "29099850" "29099850" "subst" "0.00186884" "00802" "DSG2_000008" "g.29099850G>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7540" "" "" "" "Germline" "" "" "0" "" "" "g.31519887G>A" "" "VUS" "" "0000441586" "0" "95" "18" "29100766" "29100766" "subst" "0" "00802" "DSG2_000010" "g.29100766A>G" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7541" "" "" "" "Germline" "" "" "0" "" "" "g.31520803A>G" "" "pathogenic" "" "0000441587" "0" "75" "18" "29100809" "29100809" "subst" "0" "00802" "DSG2_000011" "g.29100809A>G" "" "{PMID:Pilichou 2006:16505173}, {PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7542" "" "" "" "Germline" "" "" "0" "" "" "g.31520846A>G" "" "likely pathogenic" "" "0000441588" "0" "75" "18" "29100847" "29100847" "subst" "0.00000813504" "00802" "DSG2_000013" "g.29100847G>C" "" "{PMID:Awad:17041889}, {PMID:den Haan:20031617}, ARVD/C database 7544" "" "" "" "Germline" "" "" "0" "" "" "g.31520884G>C" "" "likely pathogenic" "" "0000441589" "0" "97" "18" "29100847" "29100847" "subst" "0.00000813504" "00802" "DSG2_000013" "g.29100847G>C" "" "{PMID:Basso:16774985}, ARVD/C database 7544" "" "" "" "Germline" "" "" "0" "" "" "g.31520884G>C" "" "pathogenic" "" "0000441590" "0" "95" "18" "29101128" "29101128" "subst" "0" "00802" "DSG2_000014" "g.29101128G>T" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7545" "" "" "" "Germline" "" "" "0" "" "" "g.31521165G>T" "" "pathogenic" "" "0000441591" "0" "95" "18" "29101145" "29101145" "subst" "0" "00802" "DSG2_000015" "g.29101145C>A" "" "{PMID:Syrris:17105751}, ARVD/C database 7546" "" "" "" "Germline" "" "" "0" "" "" "g.31521182C>A" "" "pathogenic" "" "0000441592" "0" "13" "18" "29101156" "29101156" "subst" "0.0053432" "00802" "DSG2_000016" "g.29101156T>G" "" "{PMID:Syrris:17105751}, ARVD/C database 7547" "" "" "" "Germline" "" "" "0" "" "" "g.31521193T>G" "" "benign" "" "0000441593" "0" "13" "18" "29101156" "29101156" "subst" "0.0053432" "00802" "DSG2_000016" "g.29101156T>G" "" "{PMID:Posch:18678517}, ARVD/C database 7547" "" "" "" "Germline" "" "" "0" "" "" "g.31521193T>G" "" "benign" "" "0000441594" "0" "13" "18" "29101156" "29101156" "subst" "0.0053432" "00802" "DSG2_000016" "g.29101156T>G" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7547" "" "" "" "Germline" "" "" "0" "" "" "g.31521193T>G" "" "benign" "" "0000441595" "0" "11" "18" "29102037" "29102037" "subst" "0.00545043" "00802" "DSG2_000018" "g.29102037T>A" "" "unpublished, ARVD/C database 7638" "" "" "" "Germline" "" "" "0" "" "" "g.31522074T>A" "" "benign" "" "0000441596" "2" "95" "18" "29102136" "29102136" "subst" "0.00000406359" "00802" "DSG2_000019" "g.29102136C>T" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7548" "" "" "" "Germline" "" "" "0" "" "" "g.31522173C>T" "" "pathogenic" "" "0000441597" "1" "55" "18" "29126596" "29126596" "subst" "0" "00802" "DSG2_000060" "g.29126596G>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7582" "" "" "" "Germline" "" "" "0" "" "" "g.31546633G>A" "" "VUS" "" "0000441598" "0" "99" "18" "29104517" "29104517" "subst" "0.00000407368" "00802" "DSG2_000022" "g.29104517A>G" "" "{PMID:Pilichou 2006:16505173}, {PMID:Pilichou 2009:19635863}, escardio.org (ID24&id=4371:Rampazzo}, ARVD/C database 7549" "" "" "" "Germline" "" "" "0" "" "" "g.31524554A>G" "" "pathogenic" "" "0000441599" "0" "11" "18" "29104564" "29104564" "subst" "0.255834" "00802" "DSG2_000023" "g.29104564C>A" "" "{PMID:Posch:18678517}, ARVD/C database 7602" "" "" "" "Germline" "" "rs3737378" "0" "" "" "g.31524601C>A" "" "benign" "" "0000441600" "0" "99" "18" "29104666" "29104677" "del" "0" "00802" "DSG2_000024" "g.29104666_29104677del" "" "{PMID:Syrris:17105751}, ARVD/C database 7550" "" "829_840del12" "" "Germline" "" "" "0" "" "" "g.31524703_31524714del" "" "pathogenic" "" "0000441601" "0" "11" "18" "29104698" "29104698" "subst" "0.407653" "00802" "DSG2_000025" "g.29104698C>T" "" "{PMID:Posch:18678517}, ARVD/C database 7551" "" "" "" "Germline" "" "rs2230233" "0" "" "" "g.31524735C>T" "" "benign" "" "0000441602" "0" "75" "18" "29104717" "29104717" "subst" "0.0000203202" "00802" "DSG2_000027" "g.29104717A>G" "" "{PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7553" "" "877A>G" "" "Germline" "" "" "0" "" "" "g.31524754A>G" "" "likely pathogenic" "" "0000441603" "0" "11" "18" "29104714" "29104714" "subst" "0.0691757" "00802" "DSG2_000026" "g.29104714A>G" "" "{PMID:Posch:18678517}, ARVD/C database 7552" "" "" "" "Germline" "" "rs2230234" "0" "" "" "g.31524751A>G" "" "benign" "" "0000441604" "0" "95" "18" "29104726" "29104726" "subst" "0.00000812817" "00802" "DSG2_000028" "g.29104726G>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7554" "" "" "" "Germline" "" "" "0" "" "" "g.31524763G>A" "" "pathogenic" "" "0000441605" "0" "95" "18" "29104825" "29104825" "subst" "0" "00802" "DSG2_000030" "g.29104825A>G" "" "{PMID:Yu:18632414}, ARVD/C database 7556" "" "" "" "Germline" "" "" "0" "" "" "g.31524862A>G" "" "pathogenic" "" "0000441606" "0" "75" "18" "29104828" "29104828" "subst" "0.0000162549" "00802" "DSG2_000031" "g.29104828G>A" "" "{PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7557" "" "" "" "Germline" "" "" "0" "" "" "g.31524865G>A" "" "likely pathogenic" "" "0000441607" "0" "99" "18" "29121155" "29121155" "subst" "0" "00802" "DSG2_000043" "g.29121155A>G" "" "{PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7567" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000441608" "0" "11" "18" "29104878" "29104878" "subst" "0.258752" "00802" "DSG2_000032" "g.29104878G>A" "" "{PMID:Posch:18678517}, ARVD/C database 7603" "" "" "" "Germline" "" "rs62095194" "0" "" "" "g.31524915G>A" "" "benign" "" "0000441609" "0" "95" "18" "29111109" "29111109" "subst" "0.00225959" "00802" "DSG2_000033" "g.29111109G>A" "" "{PMID:Syrris:17105751}" "" "" "" "Germline" "" "" "0" "" "" "g.31531146G>A" "" "pathogenic" "" "0000441610" "0" "55" "18" "29111109" "29111109" "subst" "0.00225959" "00802" "DSG2_000033" "g.29111109G>A" "" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}, ARVD/C database 7558" "" "1115G>A" "" "Germline" "" "" "0" "" "" "g.31531146G>A" "" "VUS" "" "0000441611" "0" "99" "18" "29111185" "29111188" "dup" "0" "00802" "DSG2_000034" "g.29111185_29111188dup" "" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}, ARVD/C database 7559" "" "" "" "Germline" "" "" "0" "" "" "g.31531222_31531225dup" "" "pathogenic" "" "0000441612" "0" "99" "18" "29111185" "29111188" "dup" "0" "00802" "DSG2_000034" "g.29111185_29111188dup" "" "{PMID:Basso:16774985}, ARVD/C database 7559" "" "" "" "Germline" "" "" "0" "" "" "g.31531222_31531225dup" "" "pathogenic" "" "0000441613" "0" "99" "18" "29115376" "29115376" "subst" "0" "00802" "DSG2_000035" "g.29115376G>T" "" "{PMID:Yu:18632414}, ARVD/C database 7560" "" "" "" "Germline" "" "" "0" "" "" "g.31535413G>T" "" "pathogenic" "" "0000441614" "0" "97" "18" "29116261" "29116261" "subst" "0" "00802" "DSG2_000036" "g.29116261G>A" "" "{PMID:Awad:16773573}, ARVD/C database 7561" "" "1517G>A" "" "Germline" "" "" "0" "" "" "g.31536298G>A" "" "pathogenic" "" "0000441615" "0" "97" "18" "29116333" "29116333" "subst" "0.0000569055" "00802" "DSG2_000038" "g.29116333T>G" "" "{PMID:Yu:18632414}, ARVD/C database 7563" "" "" "" "Germline" "" "" "0" "" "" "g.31536370T>G" "" "pathogenic" "" "0000441616" "0" "11" "18" "29116462" "29116462" "subst" "0" "00802" "DSG2_000039" "g.29116462T>C" "" "{PMID:Posch:18678517}, ARVD/C database 7604" "" "" "" "Germline" "" "rs2276150" "0" "" "" "g.31536499T>C" "" "benign" "" "0000441617" "0" "99" "18" "29118734" "29118734" "subst" "0" "00802" "DSG2_000040" "g.29118734C>T" "" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}, ARVD/C database 7564" "" "" "" "Germline" "" "" "0" "" "" "g.31538771C>T" "" "pathogenic" "" "0000441618" "0" "99" "18" "29118734" "29118734" "subst" "0" "00802" "DSG2_000040" "g.29118734C>T" "" "{PMID:Basso:16774985}, ARVD/C database 7564" "" "" "" "Germline" "" "" "0" "" "" "g.31538771C>T" "" "pathogenic" "" "0000441619" "0" "99" "18" "29118835" "29118836" "del" "0" "00802" "DSG2_000041" "g.29118835_29118836del" "" "{PMID:Syrris:17105751}, ARVD/C database 7565" "" "1773_1774delTG" "" "Germline" "" "" "0" "" "" "g.31538872_31538873del" "" "pathogenic" "" "0000441620" "0" "99" "18" "29118835" "29118836" "del" "0" "00802" "DSG2_000041" "g.29118835_29118836del" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7565" "" "1773_1774delTG" "" "Germline" "" "" "0" "" "" "g.31538872_31538873del" "" "pathogenic" "" "0000441621" "0" "99" "18" "29122517" "29122517" "del" "0" "00802" "DSG2_000044" "g.29122517del" "" "{PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7568" "" "2036delG" "" "Germline" "" "" "0" "" "" "g.31542554del" "" "pathogenic" "" "0000441622" "0" "11" "18" "29122618" "29122618" "subst" "0.0530993" "00802" "DSG2_000045" "g.29122618G>A" "" "{PMID:Posch:18678517}, ARVD/C database 7569" "" "" "" "Germline" "" "" "0" "" "" "g.31542655G>A" "" "benign" "" "0000441623" "0" "91" "18" "29122618" "29122618" "subst" "0.0530993" "00802" "DSG2_000045" "g.29122618G>A" "" "{PMID:Basso:16774985}, ARVD/C database 7569" "" "" "" "Germline" "" "" "0" "" "" "g.31542655G>A" "" "pathogenic" "" "0000441624" "0" "71" "18" "29122618" "29122618" "subst" "0.0530993" "00802" "DSG2_000045" "g.29122618G>A" "" "{PMID:Yu:18632414}, ARVD/C database 7569" "" "" "" "Germline" "" "" "0" "" "" "g.31542655G>A" "" "likely pathogenic" "" "0000441625" "0" "11" "18" "29122618" "29122618" "subst" "0.0530993" "00802" "DSG2_000045" "g.29122618G>A" "" "{PMID:Milting:18813333}, ARVD/C database 7569" "" "" "" "Germline" "" "" "0" "" "" "g.31542655G>A" "" "benign" "" "0000441626" "0" "11" "18" "29122799" "29122799" "subst" "0.265563" "00802" "DSG2_000046" "g.29122799G>A" "" "{PMID:Posch:18678517}, ARVD/C database 7570" "" "" "" "Germline" "" "rs2278792" "0" "" "" "g.31542836G>A" "" "benign" "" "0000441627" "0" "97" "18" "29125783" "29125783" "subst" "0.0000121908" "00802" "DSG2_000049" "g.29125783G>T" "" "{PMID:Awad:16773573}, ARVD/C database 7571" "" "2431G>T" "" "Germline" "" "" "0" "" "" "g.31545820G>T" "" "pathogenic" "" "0000441628" "0" "11" "18" "29125854" "29125854" "subst" "0.124758" "00802" "DSG2_000050" "g.29125854A>G" "" "{PMID:Posch:18678517}, ARVD/C database 7572" "" "" "" "Germline" "" "rs1042769" "0" "" "" "g.31545891A>G" "" "benign" "" "0000441629" "0" "55" "18" "29126042" "29126042" "subst" "0" "00802" "DSG2_000053" "g.29126042A>C" "" "unpublished, ARVD/C database 7575" "" "" "" "Germline" "" "" "0" "" "" "g.31546079A>C" "" "VUS" "" "0000441630" "0" "91" "18" "29126108" "29126108" "subst" "0.00361275" "00802" "DSG2_000055" "g.29126108T>G" "" "{PMID:Syrris:17105751}, ARVD/C database 7576" "" "" "" "Germline" "" "" "0" "" "" "g.31546145T>G" "" "pathogenic" "" "0000441631" "0" "11" "18" "29126108" "29126108" "subst" "0.00361275" "00802" "DSG2_000055" "g.29126108T>G" "" "{PMID:Posch:18678517}, ARVD/C database 7576" "" "" "" "Germline" "" "" "0" "" "" "g.31546145T>G" "" "benign" "" "0000441632" "0" "55" "18" "29126548" "29126548" "subst" "0" "00802" "DSG2_000058" "g.29126548A>G" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7580" "" "" "" "Germline" "" "" "0" "" "" "g.31546585A>G" "" "VUS" "" "0000441633" "0" "11" "18" "29126670" "29126670" "subst" "0.422014" "00802" "DSG2_000063" "g.29126670T>C" "" "{PMID:Posch:18678517}, ARVD/C database 7585" "" "" "" "Germline" "" "rs1791235" "0" "" "" "g.31546707T>C" "" "benign" "" "0000441634" "0" "11" "18" "29078292" "29078292" "subst" "0" "00802" "DSG2_000064" "g.29078292G>T" "" "unpublished, ARVD/C database 7796" "" "" "" "Germline" "" "" "0" "" "" "g.31498329G>T" "" "benign" "" "0000441635" "0" "11" "18" "29098166" "29098166" "subst" "0.00144977" "00802" "DSG2_000065" "g.29098166T>C" "" "unpublished, ARVD/C database 7798" "" "" "" "Germline" "" "" "0" "" "" "g.31518203T>C" "" "benign" "" "0000441636" "0" "11" "18" "29100677" "29100677" "subst" "0" "00802" "DSG2_000066" "g.29100677G>C" "" "unpublished, ARVD/C database 7799" "" "" "" "Germline" "" "" "0" "" "" "g.31520714G>C" "" "benign" "" "0000441637" "0" "99" "18" "29100929" "29100929" "subst" "0" "00802" "DSG2_000067" "g.29100929T>G" "" "unpublished, ARVD/C database 7800" "" "" "" "Germline" "" "" "0" "" "" "g.31520966T>G" "" "pathogenic" "" "0000441638" "0" "11" "18" "29101010" "29101010" "subst" "0" "00802" "DSG2_000068" "g.29101010G>A" "" "unpublished, ARVD/C database 7801" "" "" "" "Germline" "" "" "0" "" "" "g.31521047G>A" "" "benign" "" "0000441639" "0" "11" "18" "29101998" "29101998" "subst" "0.000839356" "00802" "DSG2_000069" "g.29101998A>G" "" "unpublished, ARVD/C database 7802" "" "" "" "Germline" "" "" "0" "" "" "g.31522035A>G" "" "benign" "" "0000441640" "0" "55" "18" "29104840" "29104840" "subst" "0.000511987" "00802" "DSG2_000070" "g.29104840A>G" "" "unpublished, ARVD/C database 7803" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "VUS" "" "0000441641" "0" "55" "18" "29115255" "29115255" "subst" "0.000865428" "00802" "DSG2_000071" "g.29115255G>A" "" "unpublished, ARVD/C database 7804" "" "" "" "Germline" "" "" "0" "" "" "g.31535292G>A" "" "VUS" "" "0000441642" "0" "55" "18" "29116215" "29116215" "subst" "0.0000121941" "00802" "DSG2_000072" "g.29116215A>G" "" "unpublished, ARVD/C database 7805" "" "" "" "Germline" "" "" "0" "" "" "g.31536252A>G" "" "VUS" "" "0000441643" "0" "55" "18" "29116244" "29116244" "subst" "0.00000812737" "00802" "DSG2_000073" "g.29116244G>T" "" "unpublished, ARVD/C database 7806" "" "" "" "Germline" "" "" "0" "" "" "g.31536281G>T" "" "VUS" "" "0000441644" "0" "11" "18" "29121116" "29121116" "subst" "0.0000203383" "00802" "DSG2_000074" "g.29121116A>G" "" "unpublished, ARVD/C database 7807" "" "" "" "Germline" "" "" "0" "" "" "g.31541153A>G" "" "benign" "" "0000441645" "0" "55" "18" "29122591" "29122591" "subst" "0.0000121908" "00802" "DSG2_000075" "g.29122591A>G" "" "unpublished, ARVD/C database 7808" "" "" "" "Germline" "" "" "0" "" "" "g.31542628A>G" "" "VUS" "" "0000441646" "0" "55" "18" "29126558" "29126558" "subst" "0.00180463" "00802" "DSG2_000076" "g.29126558C>T" "" "unpublished, ARVD/C database 7809" "" "" "" "Germline" "" "" "0" "" "" "g.31546595C>T" "" "VUS" "" "0000441647" "0" "99" "18" "29118835" "29118836" "del" "0" "00802" "DSG2_000041" "g.29118835_29118836del" "" "{PMID:Asimaki:19279339}, ARVD/C database 7565" "" "1773_1774delTG" "" "Germline" "" "" "0" "" "" "g.31538872_31538873del" "" "pathogenic" "" "0000441648" "0" "99" "18" "29104666" "29104677" "del" "0" "00802" "DSG2_000024" "g.29104666_29104677del" "" "{PMID:Asimaki:19279339}, ARVD/C database 7550" "" "829_840del12" "" "Germline" "" "" "0" "" "" "g.31524703_31524714del" "" "pathogenic" "" "0000441649" "1" "55" "18" "29099850" "29099850" "subst" "0.00186884" "00802" "DSG2_000008" "g.29099850G>A" "" "{PMID:Dalal 2009:19358943}, {PMID:den Haan:20031617}, {PMID:Xu 2010:20152563}, ARVD/C database 7540" "" "" "Share conclusion that p.Val56Met likely plays a contributory role" "Germline" "" "" "0" "" "" "g.31519887G>A" "" "VUS" "" "0000441650" "0" "75" "18" "29101120" "29101120" "subst" "0.00000406527" "00802" "DSG2_000077" "g.29101120G>A" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7900" "" "" "" "Germline" "" "" "0" "" "" "g.31521157G>A" "" "likely pathogenic" "" "0000441651" "0" "75" "18" "29102211" "29102211" "subst" "0" "00802" "DSG2_000078" "g.29102211A>G" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7901" "" "" "" "Germline" "" "" "0" "" "" "g.31522248A>G" "" "likely pathogenic" "" "0000441652" "0" "75" "18" "29104727" "29104727" "subst" "0" "00802" "DSG2_000079" "g.29104727A>G" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7902" "" "" "" "Germline" "" "" "0" "" "" "g.31524764A>G" "" "likely pathogenic" "" "0000441653" "0" "75" "18" "29121188" "29121188" "subst" "0.000117915" "00802" "DSG2_000080" "g.29121188G>A" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7903" "" "" "" "Germline" "" "" "0" "" "" "g.31541225G>A" "" "likely pathogenic" "" "0000441654" "0" "55" "18" "29125840" "29125840" "subst" "0.0000244016" "00802" "DSG2_000081" "g.29125840C>T" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7905" "" "" "" "Germline" "" "" "0" "" "" "g.31545877C>T" "" "VUS" "" "0000441655" "0" "75" "18" "29126122" "29126122" "subst" "0" "00802" "DSG2_000082" "g.29126122C>T" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7904" "" "" "" "Germline" "" "" "0" "" "" "g.31546159C>T" "" "likely pathogenic" "" "0000441656" "0" "99" "18" "29126339" "29126339" "del" "0" "00802" "DSG2_000083" "g.29126339del" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7899" "" "2990delG" "" "Germline" "" "" "0" "" "" "g.31546376del" "" "pathogenic" "" "0000441657" "0" "99" "18" "29104666" "29104673" "del" "0" "00802" "DSG2_000084" "g.29104666_29104673del" "" "{PMID:den Haan:20031617}, ARVD/C database 7873" "" "" "" "Germline" "" "" "0" "" "" "g.31524703_31524710del" "" "pathogenic" "" "0000441658" "0" "95" "18" "29104840" "29104840" "subst" "0.000511987" "00802" "DSG2_000070" "g.29104840A>G" "" "{PMID:Posch:18678517}, {PMID:Yu:18632414}, ARVD/C database 7803" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "pathogenic" "" "0000441659" "0" "11" "18" "29125717" "29125717" "subst" "0.000292571" "00802" "DSG2_000085" "g.29125717C>T" "" "{PMID:den Haan:20031617}, ARVD/C database 7882" "" "" "" "Germline" "" "" "0" "" "" "g.31545754C>T" "" "benign" "" "0000441660" "0" "11" "18" "29125997" "29125997" "subst" "0.0000163012" "00802" "DSG2_000086" "g.29125997C>T" "" "{PMID:den Haan:20031617}, ARVD/C database 7883" "" "" "" "Germline" "" "" "0" "" "" "g.31546034C>T" "" "benign" "" "0000441661" "0" "11" "18" "29126642" "29126642" "subst" "0.0000325455" "00802" "DSG2_000087" "g.29126642C>G" "" "{PMID:den Haan:20031617}, ARVD/C database 7884" "" "" "" "Germline" "" "" "0" "" "" "g.31546679C>G" "" "benign" "" "0000441662" "0" "55" "18" "29102102" "29102102" "subst" "0" "00802" "DSG2_000088" "g.29102102T>C" "" "unpublished, ARVD/C database 7923" "" "" "" "Germline" "" "" "0" "" "" "g.31522139T>C" "" "VUS" "" "0000441663" "0" "55" "18" "29116221" "29116221" "subst" "0.0000243875" "00802" "DSG2_000089" "g.29116221G>A" "" "unpublished, ARVD/C database 7924" "" "" "" "Germline" "" "" "0" "" "" "g.31536258G>A" "" "VUS" "" "0000441664" "0" "95" "18" "29099830" "29099830" "subst" "0.00000406279" "00802" "DSG2_000007" "g.29099830G>A" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7539" "" "" "" "Germline" "" "" "0" "" "" "g.31519867G>A" "" "pathogenic" "" "0000441665" "0" "95" "18" "29102082" "29102082" "subst" "0" "00802" "DSG2_000091" "g.29102082A>G" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7976" "" "" "" "Germline" "" "" "0" "" "" "g.31522119A>G" "" "pathogenic" "" "0000441666" "0" "95" "18" "29104798" "29104798" "subst" "0.0000162549" "00802" "DSG2_000092" "g.29104798T>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7977" "" "" "" "Germline" "" "" "0" "" "" "g.31524835T>A" "" "pathogenic" "" "0000441667" "0" "95" "18" "29099821" "29099821" "subst" "0" "03133" "DSG2_000006" "g.29099821G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "pathogenic" "" "0000441668" "0" "95" "18" "29099821" "29099821" "subst" "0" "03133" "DSG2_000006" "g.29099821G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "pathogenic" "" "0000441669" "0" "95" "18" "29123345" "29123345" "del" "0" "03133" "DSG2_000093" "g.29123345del" "" "" "" "3058-3062delAGAG" "Patient also carries the PKP2_c.174G>T, p.Glu58Asn polymorphism\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000441670" "10" "75" "18" "29104840" "29104840" "subst" "0.000511987" "03133" "DSG2_000070" "g.29104840A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "likely pathogenic" "" "0000441671" "20" "75" "18" "29104840" "29104840" "subst" "0.000511987" "03133" "DSG2_000070" "g.29104840A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "likely pathogenic" "" "0000441672" "0" "75" "18" "29104840" "29104840" "subst" "0.000511987" "03133" "DSG2_000070" "g.29104840A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "likely pathogenic" "" "0000441673" "0" "75" "18" "29104840" "29104840" "subst" "0.000511987" "03133" "DSG2_000070" "g.29104840A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "likely pathogenic" "" "0000441674" "0" "95" "18" "29099821" "29099821" "subst" "0" "03133" "DSG2_000006" "g.29099821G>A" "" "" "" "" "Patient also carries the DSP_c.88G>A, p. Val30Met polymorphism" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "pathogenic" "" "0000441675" "0" "95" "18" "29099821" "29099821" "subst" "0" "03133" "DSG2_000006" "g.29099821G>A" "" "" "" "" "Patient also carries the DSP-c.1778A>G, p.Asn593Ser variant" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "pathogenic" "" "0000441676" "0" "55" "18" "29078220" "29078220" "subst" "0.0095311" "00802" "DSG2_000094" "g.29078220G>A" "" "unpublished, ARVD/C database 8245" "" "" "" "Germline" "" "" "0" "" "" "g.31498257G>A" "" "VUS" "" "0000441677" "0" "55" "18" "29098213" "29098213" "subst" "0.0000203229" "00802" "DSG2_000095" "g.29098213C>T" "" "unpublished, ARVD/C database 8005" "" "" "" "Germline" "" "" "0" "" "" "g.31518250C>T" "" "VUS" "" "0000441678" "0" "55" "18" "29099789" "29099789" "subst" "0.00000406326" "00802" "DSG2_000096" "g.29099789T>A" "" "unpublished, ARVD/C database 8345" "" "" "" "Germline" "" "" "0" "" "" "g.31519826T>A" "" "VUS" "" "0000441679" "0" "55" "18" "29099820" "29099820" "subst" "0.00000406289" "00802" "DSG2_000097" "g.29099820C>T" "" "unpublished, ARVD/C database 8036" "" "" "" "Germline" "" "" "0" "" "" "g.31519857C>T" "" "VUS" "" "0000441680" "0" "55" "18" "29099866" "29099866" "del" "0" "00802" "DSG2_000098" "g.29099866del" "" "unpublished, ARVD/C database 8406" "" "182delG" "" "Germline" "" "" "0" "" "" "g.31519903del" "" "VUS" "" "0000441681" "0" "55" "18" "29099892" "29099892" "subst" "0.0000365631" "00802" "DSG2_000099" "g.29099892A>G" "" "unpublished, ARVD/C database 8302" "" "" "" "Germline" "" "" "0" "" "" "g.31519929A>G" "" "VUS" "" "0000441682" "0" "55" "18" "29099902" "29099902" "subst" "0" "00802" "DSG2_000100" "g.29099902T>C" "" "unpublished, ARVD/C database 8404" "" "" "" "Germline" "" "" "0" "" "" "g.31519939T>C" "" "VUS" "" "0000441683" "0" "55" "18" "29100770" "29100770" "subst" "0.000211566" "00802" "DSG2_000101" "g.29100770A>G" "" "unpublished, ARVD/C database 8001" "" "" "" "Germline" "" "" "0" "" "" "g.31520807A>G" "" "VUS" "" "0000441684" "0" "55" "18" "29100803" "29100803" "subst" "0.00000406689" "00802" "DSG2_000102" "g.29100803T>A" "" "unpublished, ARVD/C database 8107" "" "" "" "Germline" "" "" "0" "" "" "g.31520840T>A" "" "VUS" "" "0000441685" "0" "55" "18" "29101120" "29101120" "subst" "0.00037807" "00802" "DSG2_000103" "g.29101120G>T" "" "unpublished, ARVD/C database 8004" "" "" "" "Germline" "" "" "0" "" "" "g.31521157G>T" "" "VUS" "" "0000441686" "0" "55" "18" "29101153" "29101153" "subst" "0.0000203295" "00802" "DSG2_000104" "g.29101153C>T" "" "unpublished, ARVD/C database 8405" "" "" "" "Germline" "" "" "0" "" "" "g.31521190C>T" "" "VUS" "" "0000441687" "0" "55" "18" "29101157" "29101157" "subst" "0" "00802" "DSG2_000105" "g.29101157G>A" "" "unpublished, ARVD/C database 8771" "" "" "" "Germline" "" "" "0" "" "" "g.31521194G>A" "" "VUS" "" "0000441688" "0" "55" "18" "29101167" "29101167" "del" "0" "00802" "DSG2_000106" "g.29101167del" "" "unpublished, ARVD/C database 8248" "" "484delG" "" "Germline" "" "" "0" "" "" "g.31521204del" "" "VUS" "" "0000441689" "0" "55" "18" "29101208" "29101208" "subst" "0.00000855937" "00802" "DSG2_000107" "g.29101208T>C" "" "unpublished, ARVD/C database 8037" "" "" "" "Germline" "" "" "0" "" "" "g.31521245T>C" "" "VUS" "" "0000441690" "0" "55" "18" "29102067" "29102067" "subst" "0.0000325214" "00802" "DSG2_000108" "g.29102067A>G" "" "unpublished, ARVD/C database 8776" "" "" "" "Germline" "" "" "0" "" "" "g.31522104A>G" "" "VUS" "" "0000441691" "0" "55" "18" "29102103" "29102103" "subst" "0.0000284546" "00802" "DSG2_000109" "g.29102103C>T" "" "unpublished, ARVD/C database 8298" "" "" "" "Germline" "" "" "0" "" "" "g.31522140C>T" "" "VUS" "" "0000441692" "0" "55" "18" "29102115" "29102115" "subst" "0.0000162565" "00802" "DSG2_000110" "g.29102115A>G" "" "unpublished, ARVD/C database 8346" "" "" "" "Germline" "" "" "0" "" "" "g.31522152A>G" "" "VUS" "" "0000441693" "0" "55" "18" "29102207" "29102207" "subst" "0" "00802" "DSG2_000111" "g.29102207A>G" "" "unpublished, ARVD/C database 8347" "" "" "" "Germline" "" "" "0" "" "" "g.31522244A>G" "" "VUS" "" "0000441694" "0" "55" "18" "29102213" "29102213" "subst" "0.0000121918" "00802" "DSG2_000112" "g.29102213G>A" "" "unpublished, ARVD/C database 8038" "" "" "" "Germline" "" "" "0" "" "" "g.31522250G>A" "" "VUS" "" "0000441695" "0" "55" "18" "29104436" "29104436" "subst" "0.000085477" "00802" "DSG2_000113" "g.29104436T>C" "" "unpublished, ARVD/C database 8231" "" "" "" "Germline" "" "" "0" "" "" "g.31524473T>C" "" "VUS" "" "0000441696" "0" "55" "18" "29104503" "29104503" "subst" "0.000134441" "00802" "DSG2_000114" "g.29104503T>A" "" "unpublished, ARVD/C database 8114" "" "" "" "Germline" "" "" "0" "" "" "g.31524540T>A" "" "VUS" "" "0000441697" "0" "55" "18" "29104512" "29104512" "subst" "0" "00802" "DSG2_000115" "g.29104512T>A" "" "unpublished, ARVD/C database 8042" "" "" "" "Germline" "" "" "0" "" "" "g.31524549T>A" "" "VUS" "" "0000441698" "0" "55" "18" "29104526" "29104526" "subst" "0.0000488866" "00802" "DSG2_000116" "g.29104526T>C" "" "unpublished, ARVD/C database 8043" "" "" "" "Germline" "" "" "0" "" "" "g.31524563T>C" "" "VUS" "" "0000441699" "0" "55" "18" "29104711" "29104711" "subst" "0.0000487745" "00802" "DSG2_000117" "g.29104711C>T" "" "unpublished, ARVD/C database 8002" "" "" "" "Germline" "" "" "0" "" "" "g.31524748C>T" "" "VUS" "" "0000441700" "0" "55" "18" "29104712" "29104712" "subst" "0.0000812942" "00802" "DSG2_000118" "g.29104712G>A" "" "unpublished, ARVD/C database 8090" "" "" "" "Germline" "" "" "0" "" "" "g.31524749G>A" "" "VUS" "" "0000441701" "0" "55" "18" "29104719" "29104719" "dup" "0" "00802" "DSG2_000119" "g.29104719dup" "" "unpublished, ARVD/C database 8039" "" "" "" "Germline" "" "" "0" "" "" "g.31524756dup" "" "VUS" "" "0000441702" "0" "55" "18" "29104814" "29104814" "subst" "0.00000812691" "00802" "DSG2_000120" "g.29104814A>T" "" "unpublished, ARVD/C database 8040" "" "" "" "Germline" "" "" "0" "" "" "g.31524851A>T" "" "VUS" "" "0000441703" "0" "55" "18" "29104835" "29104835" "subst" "0" "00802" "DSG2_000121" "g.29104835T>C" "" "unpublished, ARVD/C database 8230" "" "" "" "Germline" "" "" "0" "" "" "g.31524872T>C" "" "VUS" "" "0000441704" "0" "55" "18" "29110943" "29110943" "subst" "0" "00802" "DSG2_000122" "g.29110943C>G" "" "unpublished, ARVD/C database 8399" "" "" "" "Germline" "" "" "0" "" "" "g.31530980C>G" "" "VUS" "" "0000441705" "0" "55" "18" "29110973" "29110975" "del" "0" "00802" "DSG2_000123" "g.29110973_29110975del" "" "unpublished, ARVD/C database 8086" "" "1038_1040delGAA" "" "Germline" "" "" "0" "" "" "g.31531010_31531012del" "" "VUS" "" "0000441706" "0" "55" "18" "29110986" "29110986" "subst" "0.000581391" "00802" "DSG2_000124" "g.29110986A>G" "" "unpublished, ARVD/C database 8006" "" "" "" "Germline" "" "" "0" "" "" "g.31531023A>G" "" "VUS" "" "0000441707" "0" "55" "18" "29111007" "29111007" "subst" "0.00000812922" "00802" "DSG2_000125" "g.29111007G>A" "" "unpublished, ARVD/C database 8003" "" "" "" "Germline" "" "" "0" "" "" "g.31531044G>A" "" "VUS" "" "0000441708" "0" "55" "18" "29111098" "29111098" "subst" "0" "00802" "DSG2_000126" "g.29111098T>G" "" "unpublished, ARVD/C database 8165" "" "" "" "Germline" "" "" "0" "" "" "g.31531135T>G" "" "VUS" "" "0000441709" "0" "55" "18" "29111103" "29111103" "dup" "0" "00802" "DSG2_000127" "g.29111103dup" "" "unpublished, ARVD/C database 8400" "" "1168dupA" "" "Germline" "" "" "0" "" "" "g.31531140dup" "" "VUS" "" "0000441710" "0" "55" "18" "29115286" "29115286" "subst" "0" "00802" "DSG2_000128" "g.29115286C>T" "" "unpublished, ARVD/C database 8348" "" "" "" "Germline" "" "" "0" "" "" "g.31535323C>T" "" "VUS" "" "0000441711" "0" "55" "18" "29115333" "29115333" "subst" "0" "00802" "DSG2_000129" "g.29115333C>T" "" "unpublished, ARVD/C database 8091" "" "" "" "Germline" "" "" "0" "" "" "g.31535370C>T" "" "VUS" "" "0000441712" "0" "55" "18" "29115377" "29115381" "del" "0" "00802" "DSG2_000130" "g.29115377_29115381delinsN[17]" "" "unpublished, ARVD/C database 8402" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000441713" "0" "55" "18" "29118702" "29118702" "subst" "0.000403242" "00802" "DSG2_000131" "g.29118702C>T" "" "unpublished, ARVD/C database 8774" "" "" "" "Germline" "" "" "0" "" "" "g.31538739C>T" "" "VUS" "" "0000441714" "0" "55" "18" "29116180" "29116180" "subst" "0" "00802" "DSG2_000132" "g.29116180C>T" "" "unpublished, ARVD/C database 8428" "" "" "" "Germline" "" "" "0" "" "" "g.31536217C>T" "" "VUS" "" "0000441715" "0" "55" "18" "29116219" "29116219" "subst" "0.0000528352" "00802" "DSG2_000133" "g.29116219A>G" "" "unpublished, ARVD/C database 8232" "" "" "" "Germline" "" "" "0" "" "" "g.31536256A>G" "" "VUS" "" "0000441716" "0" "55" "18" "29116222" "29116222" "subst" "0.0000203217" "00802" "DSG2_000134" "g.29116222A>C" "" "unpublished, ARVD/C database 8363" "" "" "" "Germline" "" "" "0" "" "" "g.31536259A>C" "" "VUS" "" "0000441717" "0" "55" "18" "29116291" "29116291" "subst" "0.000426656" "00802" "DSG2_000135" "g.29116291C>T" "" "unpublished, ARVD/C database 8115" "" "" "" "Germline" "" "" "0" "" "" "g.31536328C>T" "" "VUS" "" "0000441718" "0" "55" "18" "29118843" "29118843" "subst" "0.000626546" "00802" "DSG2_000136" "g.29118843T>C" "" "unpublished, ARVD/C database 8155" "" "" "" "Germline" "" "" "0" "" "" "g.31538880T>C" "" "VUS" "" "0000441719" "0" "55" "18" "29118876" "29118876" "subst" "0.00000813829" "00802" "DSG2_000137" "g.29118876A>T" "" "unpublished, ARVD/C database 8156" "" "" "" "Germline" "" "" "0" "" "" "g.31538913A>T" "" "VUS" "" "0000441720" "0" "55" "18" "29118899" "29118899" "subst" "0.000016289" "00802" "DSG2_000138" "g.29118899G>A" "" "unpublished, ARVD/C database 8166" "" "" "" "Germline" "" "" "0" "" "" "g.31538936G>A" "" "VUS" "" "0000441721" "0" "55" "18" "29118909" "29118909" "subst" "0.000150732" "00802" "DSG2_000139" "g.29118909C>T" "" "unpublished, ARVD/C database 8167" "" "" "" "Germline" "" "" "0" "" "" "g.31538946C>T" "" "VUS" "" "0000441722" "0" "55" "18" "29121187" "29121187" "subst" "0.00261448" "00802" "DSG2_000140" "g.29121187C>T" "" "unpublished, ARVD/C database 8772" "" "" "" "Germline" "" "" "0" "" "" "g.31541224C>T" "" "VUS" "" "0000441723" "0" "55" "18" "29121190" "29121190" "subst" "0.0020412" "00802" "DSG2_000141" "g.29121190A>G" "" "unpublished, ARVD/C database 8773" "" "" "" "Germline" "" "" "0" "" "" "g.31541227A>G" "" "VUS" "" "0000441724" "0" "55" "18" "29121195" "29121208" "del" "0.00000406623" "00802" "DSG2_000142" "g.29121195_29121208del" "" "unpublished, ARVD/C database 8041" "" "" "" "Germline" "" "" "0" "" "" "g.31541232_31541245del" "" "VUS" "" "0000441725" "0" "55" "18" "29122514" "29122514" "subst" "0.0000406623" "00802" "DSG2_000143" "g.29122514G>C" "" "unpublished, ARVD/C database 8318" "" "" "" "Germline" "" "" "0" "" "" "g.31542551G>C" "" "VUS" "" "0000441726" "0" "55" "18" "29122517" "29122517" "subst" "0" "00802" "DSG2_000144" "g.29122517G>T" "" "unpublished, ARVD/C database 8367" "" "" "" "Germline" "" "" "0" "" "" "g.31542554G>T" "" "VUS" "" "0000441727" "0" "55" "18" "29122673" "29122673" "subst" "0.0000609543" "00802" "DSG2_000145" "g.29122673A>C" "" "unpublished, ARVD/C database 8157" "" "" "" "Germline" "" "" "0" "" "" "g.31542710A>C" "" "VUS" "" "0000441728" "0" "55" "18" "29122675" "29122675" "subst" "0" "00802" "DSG2_000146" "g.29122675T>G" "" "unpublished, ARVD/C database 8241" "" "" "" "Germline" "" "" "0" "" "" "g.31542712T>G" "" "VUS" "" "0000441729" "0" "55" "18" "29125689" "29125689" "subst" "0.0000162848" "00802" "DSG2_000147" "g.29125689G>A" "" "unpublished, ARVD/C database 8403" "" "" "" "Germline" "" "" "0" "" "" "g.31545726G>A" "" "VUS" "" "0000441730" "0" "55" "18" "29125698" "29125698" "subst" "0.00000406696" "00802" "DSG2_000148" "g.29125698C>A" "" "unpublished, ARVD/C database 8130" "" "" "" "Germline" "" "" "0" "" "" "g.31545735C>A" "" "VUS" "" "0000441731" "0" "55" "18" "29125783" "29125783" "subst" "0.0000243815" "00802" "DSG2_000149" "g.29125783G>A" "" "unpublished, ARVD/C database 8065" "" "" "" "Germline" "" "" "0" "" "" "g.31545820G>A" "" "VUS" "" "0000441732" "0" "55" "18" "29125786" "29125786" "subst" "0" "00802" "DSG2_000150" "g.29125786T>C" "" "unpublished, ARVD/C database 8066" "" "" "" "Germline" "" "" "0" "" "" "g.31545823T>C" "" "VUS" "" "0000441733" "0" "55" "18" "29125819" "29125819" "subst" "0.000174821" "00802" "DSG2_000151" "g.29125819C>T" "" "unpublished, ARVD/C database 8374" "" "" "" "Germline" "" "" "0" "" "" "g.31545856C>T" "" "VUS" "" "0000441734" "0" "55" "18" "29125846" "29125846" "subst" "0.0000121994" "00802" "DSG2_000152" "g.29125846T>A" "" "unpublished, ARVD/C database 8401" "" "" "" "Germline" "" "" "0" "" "" "g.31545883T>A" "" "VUS" "" "0000441735" "0" "55" "18" "29125917" "29125917" "subst" "0" "00802" "DSG2_000153" "g.29125917A>C" "" "unpublished, ARVD/C database 8368" "" "" "" "Germline" "" "" "0" "" "" "g.31545954A>C" "" "VUS" "" "0000441736" "0" "55" "18" "29125972" "29125972" "subst" "0.0000285491" "00802" "DSG2_000154" "g.29125972A>G" "" "unpublished, ARVD/C database 8000" "" "" "" "Germline" "" "" "0" "" "" "g.31546009A>G" "" "VUS" "" "0000441737" "0" "55" "18" "29126099" "29126099" "subst" "0.000146478" "00802" "DSG2_000155" "g.29126099C>T" "" "unpublished, ARVD/C database 8158" "" "" "" "Germline" "" "" "0" "" "" "g.31546136C>T" "" "VUS" "" "0000441738" "0" "55" "18" "29126129" "29126129" "subst" "0.000199367" "00802" "DSG2_000156" "g.29126129C>T" "" "unpublished, ARVD/C database 8159" "" "" "" "Germline" "" "" "0" "" "" "g.31546166C>T" "" "VUS" "" "0000441739" "0" "55" "18" "29126146" "29126146" "subst" "0.00000406921" "00802" "DSG2_000157" "g.29126146G>A" "" "unpublished, ARVD/C database 8160" "" "" "" "Germline" "" "" "0" "" "" "g.31546183G>A" "" "VUS" "" "0000441740" "0" "55" "18" "29126149" "29126149" "subst" "0" "00802" "DSG2_000158" "g.29126149A>G" "" "unpublished, ARVD/C database 8161" "" "" "" "Germline" "" "" "0" "" "" "g.31546186A>G" "" "VUS" "" "0000441741" "0" "55" "18" "29126227" "29126227" "subst" "0" "00802" "DSG2_000159" "g.29126227A>C" "" "unpublished, ARVD/C database 8168" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "g.31546264A>C" "" "VUS" "" "0000441742" "0" "55" "18" "29126235" "29126235" "subst" "0.000613791" "00802" "DSG2_000160" "g.29126235T>G" "" "unpublished, ARVD/C database 8775" "" "" "" "Germline" "" "" "0" "" "" "g.31546272T>G" "" "VUS" "" "0000441743" "0" "55" "18" "29126389" "29126389" "subst" "0.000081281" "00802" "DSG2_000161" "g.29126389G>A" "" "unpublished, ARVD/C database 8076" "" "" "" "Germline" "" "" "0" "" "" "g.31546426G>A" "" "VUS" "" "0000441744" "0" "55" "18" "29126394" "29126394" "" "0" "00802" "DSG2_000162" "g.29126394G>H" "" "unpublished, ARVD/C database 8162" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000441745" "0" "55" "18" "29126408" "29126411" "del" "0" "00802" "DSG2_000163" "g.29126408_29126411del" "" "unpublished, ARVD/C database 8096" "" "3059_3062delAGAG" "" "Germline" "" "" "0" "" "" "g.31546445_31546448del" "" "VUS" "" "0000441746" "0" "55" "18" "29126410" "29126411" "del" "0" "00802" "DSG2_000164" "g.29126410_29126411del" "" "unpublished, ARVD/C database 8311" "" "3061_3062delAG" "" "Germline" "" "" "0" "" "" "g.31546447_31546448del" "" "VUS" "" "0000441747" "0" "55" "18" "29126482" "29126482" "subst" "0" "00802" "DSG2_000165" "g.29126482T>C" "" "unpublished, ARVD/C database 8163" "" "" "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" "" "0000441748" "0" "55" "18" "29126489" "29126489" "subst" "0" "00802" "DSG2_000166" "g.29126489C>G" "" "unpublished, ARVD/C database 8087" "" "" "" "Germline" "" "" "0" "" "" "g.31546526C>G" "" "VUS" "" "0000441749" "0" "55" "18" "29126516" "29126516" "subst" "0.0000162555" "00802" "DSG2_000167" "g.29126516C>T" "" "unpublished, ARVD/C database 8233" "" "" "" "Germline" "" "" "0" "" "" "g.31546553C>T" "" "VUS" "" "0000441750" "0" "55" "18" "29126644" "29126644" "subst" "0.000305116" "00802" "DSG2_000168" "g.29126644A>G" "" "unpublished, ARVD/C database 8164" "" "" "" "Germline" "" "" "0" "" "" "g.31546681A>G" "" "VUS" "" "0000441751" "0" "55" "18" "29099821" "29099821" "subst" "0" "02140" "DSG2_000006" "g.29099821G>A" "" "{PMID:Awad et al.:16773573}, {PMID:den Haan et al.:20031617}, {PMID:Bhuiyan et al.:20031616}, ARVD/C database 7538" "" "134G>A" "" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "VUS" "" "0000441752" "0" "95" "18" "29111109" "29111109" "subst" "0.00225959" "00802" "DSG2_000033" "g.29111109G>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7558" "" "" "" "Germline" "" "" "0" "" "" "g.31531146G>A" "" "pathogenic" "" "0000441753" "0" "55" "18" "29111109" "29111109" "subst" "0.00225959" "02140" "DSG2_000033" "g.29111109G>A" "" "{PMID:Syrris et al.:17105751}, {PMID:Bauce et al.:20129281}, Rampazzo (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587, {PMID:Bhuiyan et al.:20031616}, ARVD/C database 7558" "" "" "" "Germline" "" "" "0" "" "" "g.31531146G>A" "" "VUS" "" "0000441754" "2" "10" "18" "29101156" "29101156" "subst" "0.0053432" "00802" "DSG2_000016" "g.29101156T>G" "" "{PMID20031616:Bhuiyan}, ARVD/C database 7547" "" "" "" "Germline" "" "" "0" "" "" "g.31521193T>G" "" "benign" "" "0000442451" "11" "90" "18" "29111109" "29111109" "subst" "0.00225959" "00006" "DSG2_000033" "g.29111109G>A" "" "{PMID:Bauce 2010:20129281}" "" "" "variant in 9 other family members (young), 3 affected" "Germline" "" "" "0" "" "" "g.31531146G>A" "" "pathogenic (dominant)" "" "0000442457" "0" "50" "18" "29101120" "29101120" "subst" "0.00000406527" "00006" "DSG2_000077" "g.29101120G>A" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.31521157G>A" "" "VUS" "" "0000442472" "0" "50" "18" "29104840" "29104840" "subst" "0.000511987" "00006" "DSG2_000070" "g.29104840A>G" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.31524877A>G" "" "VUS" "" "0000455455" "21" "50" "18" "29111109" "29111109" "subst" "0.00225959" "00006" "DSG2_000033" "g.29111109G>A" "" "{PMID:Ploski 2014:24436435}" "" "" "" "Germline" "" "rs193922639" "0" "" "" "g.31531146G>A" "" "VUS" "" "0000564436" "0" "30" "18" "29078160" "29078160" "subst" "0" "02327" "DSG2_000295" "g.29078160G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498197G>C" "" "likely benign" "" "0000564437" "0" "10" "18" "29078220" "29078220" "subst" "0.0095311" "02327" "DSG2_000094" "g.29078220G>A" "" "" "" "DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498257G>A" "" "benign" "" "0000564438" "0" "30" "18" "29078227" "29078227" "subst" "0" "02327" "DSG2_000296" "g.29078227C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498264C>G" "" "likely benign" "" "0000564439" "0" "30" "18" "29078232" "29078232" "subst" "0" "02327" "DSG2_000297" "g.29078232A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498269A>T" "" "likely benign" "" "0000564440" "0" "30" "18" "29078258" "29078258" "subst" "0.000237229" "01943" "DSG2_000004" "g.29078258T>A" "" "" "" "DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498295T>A" "" "likely benign" "" "0000564441" "0" "30" "18" "29078295" "29078295" "subst" "0" "02327" "DSG2_000298" "g.29078295G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498332G>A" "" "likely benign" "" "0000564442" "0" "50" "18" "29098229" "29098229" "subst" "0" "01943" "DSG2_000299" "g.29098229C>T" "" "" "" "DSG2(NM_001943.3):c.73C>T (p.H25Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31518266C>T" "" "VUS" "" "0000564443" "0" "50" "18" "29098253" "29098253" "subst" "0.000134131" "02330" "DSG2_000199" "g.29098253G>T" "" "" "" "DSG2(NM_001943.3):c.81+16G>T, DSG2(NM_001943.5):c.81+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31518290G>T" "" "VUS" "" "0000564444" "0" "10" "18" "29098254" "29098254" "subst" "0.000134126" "02330" "DSG2_000200" "g.29098254A>G" "" "" "" "DSG2(NM_001943.3):c.81+17A>G, DSG2(NM_001943.5):c.81+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31518291A>G" "" "benign" "" "0000564445" "0" "10" "18" "29098323" "29098323" "subst" "0" "02327" "DSG2_000005" "g.29098323G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31518360G>A" "" "benign" "" "0000564446" "0" "10" "18" "29098345" "29098345" "subst" "0" "02327" "DSG2_000300" "g.29098345C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31518382C>T" "" "benign" "" "0000564447" "0" "30" "18" "29099749" "29099749" "subst" "0.00000406716" "02327" "DSG2_000301" "g.29099749A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519786A>G" "" "likely benign" "" "0000564448" "0" "30" "18" "29099756" "29099756" "subst" "0" "02326" "DSG2_000302" "g.29099756A>G" "" "" "" "DSG2(NM_001943.3):c.82-10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519793A>G" "" "likely benign" "" "0000564449" "0" "90" "18" "29099821" "29099821" "subst" "0" "02327" "DSG2_000006" "g.29099821G>A" "" "" "" "DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519858G>A" "" "pathogenic" "" "0000564450" "0" "70" "18" "29099829" "29099829" "subst" "0.00000812579" "02327" "DSG2_000303" "g.29099829C>T" "" "" "" "DSG2(NM_001943.3):c.145C>T (p.R49C), DSG2(NM_001943.5):c.145C>T (p.R49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519866C>T" "" "likely pathogenic" "" "0000564451" "0" "30" "18" "29099832" "29099832" "subst" "0.0000446897" "02326" "DSG2_000203" "g.29099832G>A" "" "" "" "DSG2(NM_001943.3):c.148G>A (p.A50T), DSG2(NM_001943.5):c.148G>A (p.A50T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519869G>A" "" "likely benign" "" "0000564452" "0" "10" "18" "29099850" "29099850" "subst" "0.00186884" "02330" "DSG2_000008" "g.29099850G>A" "" "" "" "DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519887G>A" "" "benign" "" "0000564453" "0" "30" "18" "29099850" "29099850" "subst" "0.00186884" "01943" "DSG2_000008" "g.29099850G>A" "" "" "" "DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519887G>A" "" "likely benign" "" "0000564454" "0" "30" "18" "29099850" "29099850" "subst" "0.00186884" "02325" "DSG2_000008" "g.29099850G>A" "" "" "" "DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519887G>A" "" "likely benign" "" "0000564455" "0" "30" "18" "29099850" "29099850" "subst" "0.00186884" "02326" "DSG2_000008" "g.29099850G>A" "" "" "" "DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519887G>A" "" "likely benign" "" "0000564456" "0" "10" "18" "29100771" "29100771" "subst" "0.0000447558" "02327" "DSG2_000207" "g.29100771T>C" "" "" "" "DSG2(NM_001943.3):c.222T>C (p.H74=), DSG2(NM_001943.5):c.222T>C (p.H74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31520808T>C" "" "benign" "" "0000564457" "0" "10" "18" "29100815" "29100815" "subst" "0.000935324" "02327" "DSG2_000012" "g.29100815A>G" "" "" "" "DSG2(NM_001943.3):c.266A>G (p.Y89C), DSG2(NM_001943.5):c.266A>G (p.Y89C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31520852A>G" "" "benign" "" "0000564458" "0" "30" "18" "29100822" "29100822" "subst" "0.00017894" "01943" "DSG2_000208" "g.29100822A>G" "" "" "" "DSG2(NM_001943.3):c.273A>G (p.G91=), DSG2(NM_001943.5):c.273A>G (p.G91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31520859A>G" "" "likely benign" "" "0000564459" "0" "10" "18" "29101010" "29101010" "subst" "0" "02327" "DSG2_000068" "g.29101010G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521047G>A" "" "benign" "" "0000564460" "0" "50" "18" "29101081" "29101081" "subst" "0" "02327" "DSG2_000304" "g.29101081A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521118A>G" "" "VUS" "" "0000564461" "0" "50" "18" "29101086" "29101086" "subst" "0" "02330" "DSG2_000305" "g.29101086A>G" "" "" "" "DSG2(NM_001943.5):c.403A>G (p.R135G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521123A>G" "" "VUS" "" "0000564462" "0" "50" "18" "29101113" "29101113" "subst" "0.0000528533" "01943" "DSG2_000306" "g.29101113G>A" "" "" "" "DSG2(NM_001943.3):c.430G>A (p.E144K), DSG2(NM_001943.5):c.430G>A (p.E144K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521150G>A" "" "VUS" "" "0000564463" "0" "30" "18" "29101113" "29101113" "subst" "0.0000528533" "02325" "DSG2_000306" "g.29101113G>A" "" "" "" "DSG2(NM_001943.3):c.430G>A (p.E144K), DSG2(NM_001943.5):c.430G>A (p.E144K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521150G>A" "" "likely benign" "" "0000564464" "0" "50" "18" "29101113" "29101113" "subst" "0.0000528533" "02326" "DSG2_000306" "g.29101113G>A" "" "" "" "DSG2(NM_001943.3):c.430G>A (p.E144K), DSG2(NM_001943.5):c.430G>A (p.E144K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521150G>A" "" "VUS" "" "0000564465" "0" "30" "18" "29101120" "29101120" "subst" "0.00000406527" "02327" "DSG2_000077" "g.29101120G>A" "" "" "" "DSG2(NM_001943.3):c.437G>A (p.R146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521157G>A" "" "likely benign" "" "0000564466" "0" "30" "18" "29101120" "29101120" "subst" "0.00037807" "02327" "DSG2_000103" "g.29101120G>T" "" "" "" "DSG2(NM_001943.3):c.437G>T (p.R146L), DSG2(NM_001943.5):c.437G>T (p.R146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521157G>T" "" "likely benign" "" "0000564467" "0" "50" "18" "29101128" "29101128" "subst" "0.0000284539" "02327" "DSG2_000307" "g.29101128G>A" "" "" "" "DSG2(NM_001943.3):c.445G>A (p.V149I), DSG2(NM_001943.5):c.445G>A (p.V149I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521165G>A" "" "VUS" "" "0000564468" "0" "50" "18" "29101128" "29101128" "subst" "0.0000284539" "02326" "DSG2_000307" "g.29101128G>A" "" "" "" "DSG2(NM_001943.3):c.445G>A (p.V149I), DSG2(NM_001943.5):c.445G>A (p.V149I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521165G>A" "" "VUS" "" "0000564469" "0" "10" "18" "29101156" "29101156" "subst" "0.0053432" "02330" "DSG2_000016" "g.29101156T>G" "" "" "" "DSG2(NM_001943.3):c.473T>G (p.V158G), DSG2(NM_001943.5):c.473T>G (p.V158G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521193T>G" "" "benign" "" "0000564470" "0" "10" "18" "29101156" "29101156" "subst" "0.0053432" "01943" "DSG2_000016" "g.29101156T>G" "" "" "" "DSG2(NM_001943.3):c.473T>G (p.V158G), DSG2(NM_001943.5):c.473T>G (p.V158G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521193T>G" "" "benign" "" "0000564472" "0" "30" "18" "29101156" "29101156" "subst" "0.0053432" "02325" "DSG2_000016" "g.29101156T>G" "" "" "" "DSG2(NM_001943.3):c.473T>G (p.V158G), DSG2(NM_001943.5):c.473T>G (p.V158G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521193T>G" "" "likely benign" "" "0000564473" "0" "10" "18" "29101156" "29101156" "subst" "0.0053432" "02326" "DSG2_000016" "g.29101156T>G" "" "" "" "DSG2(NM_001943.3):c.473T>G (p.V158G), DSG2(NM_001943.5):c.473T>G (p.V158G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521193T>G" "" "benign" "" "0000564474" "0" "50" "18" "29101185" "29101185" "subst" "0" "02327" "DSG2_000308" "g.29101185G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521222G>T" "" "VUS" "" "0000564475" "0" "70" "18" "29101196" "29101196" "subst" "0.0000203724" "02327" "DSG2_000309" "g.29101196G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521233G>T" "" "likely pathogenic" "" "0000564476" "0" "50" "18" "29101206" "29101206" "subst" "0.0000169415" "02330" "DSG2_000310" "g.29101206C>T" "" "" "" "DSG2(NM_001943.5):c.523C>T (p.H175Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521243C>T" "" "VUS" "" "0000564477" "0" "10" "18" "29101229" "29101230" "del" "0" "02330" "DSG2_000311" "g.29101229_29101230del" "" "" "" "DSG2(NM_001943.3):c.523+23_523+24delTT, DSG2(NM_001943.5):c.523+23_523+24delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521266_31521267del" "" "benign" "" "0000564478" "0" "30" "18" "29101229" "29101230" "del" "0" "01943" "DSG2_000311" "g.29101229_29101230del" "" "" "" "DSG2(NM_001943.3):c.523+23_523+24delTT, DSG2(NM_001943.5):c.523+23_523+24delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521266_31521267del" "" "likely benign" "" "0000564479" "0" "30" "18" "29101229" "29101230" "del" "0" "02326" "DSG2_000311" "g.29101229_29101230del" "" "" "" "DSG2(NM_001943.3):c.523+23_523+24delTT, DSG2(NM_001943.5):c.523+23_523+24delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521266_31521267del" "" "likely benign" "" "0000564480" "0" "30" "18" "29101229" "29101230" "del" "0" "02327" "DSG2_000311" "g.29101229_29101230del" "" "" "" "DSG2(NM_001943.3):c.523+23_523+24delTT, DSG2(NM_001943.5):c.523+23_523+24delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521266_31521267del" "" "likely benign" "" "0000564481" "0" "10" "18" "29101230" "29101230" "del" "0" "02327" "DSG2_000214" "g.29101230del" "" "" "" "DSG2(NM_001943.3):c.523+24delT, DSG2(NM_001943.5):c.523+24delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521267del" "" "benign" "" "0000564482" "0" "10" "18" "29101230" "29101230" "dup" "0" "02330" "DSG2_000312" "g.29101230dup" "" "" "" "DSG2(NM_001943.3):c.523+24dupT, DSG2(NM_001943.5):c.523+24dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521267dup" "" "benign" "" "0000564483" "0" "10" "18" "29101230" "29101230" "dup" "0" "02326" "DSG2_000312" "g.29101230dup" "" "" "" "DSG2(NM_001943.3):c.523+24dupT, DSG2(NM_001943.5):c.523+24dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521267dup" "" "benign" "" "0000564484" "0" "10" "18" "29102037" "29102037" "subst" "0.00545043" "02327" "DSG2_000018" "g.29102037T>A" "" "" "" "DSG2(NM_001943.3):c.524-9T>A, DSG2(NM_001943.5):c.524-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31522074T>A" "" "benign" "" "0000564485" "0" "50" "18" "29102103" "29102103" "subst" "0.0000284546" "01943" "DSG2_000109" "g.29102103C>T" "" "" "" "DSG2(NM_001943.3):c.581C>T (p.S194L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31522140C>T" "" "VUS" "" "0000564486" "0" "50" "18" "29102115" "29102115" "subst" "0.0000162565" "02326" "DSG2_000110" "g.29102115A>G" "" "" "" "DSG2(NM_001943.3):c.593A>G (p.Y198C), DSG2(NM_001943.5):c.593A>G (p.Y198C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31522152A>G" "" "VUS" "" "0000564487" "0" "10" "18" "29104204" "29104204" "subst" "0" "02327" "DSG2_000313" "g.29104204G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524241G>A" "" "benign" "" "0000564488" "0" "10" "18" "29104264" "29104264" "subst" "0" "02327" "DSG2_000314" "g.29104264T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524301T>C" "" "benign" "" "0000564489" "0" "30" "18" "29104436" "29104436" "subst" "0.000085477" "02326" "DSG2_000113" "g.29104436T>C" "" "" "" "DSG2(NM_001943.3):c.716T>C (p.V239A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524473T>C" "" "likely benign" "" "0000564490" "0" "30" "18" "29104503" "29104503" "subst" "0.000134441" "02327" "DSG2_000114" "g.29104503T>A" "" "" "" "DSG2(NM_001943.3):c.783T>A (p.R261=), DSG2(NM_001943.5):c.783T>A (p.R261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524540T>A" "" "likely benign" "" "0000564491" "0" "70" "18" "29104523" "29104530" "dup" "0" "02330" "DSG2_000315" "g.29104523_29104530dup" "" "" "" "DSG2(NM_001943.5):c.803_810dupATATACCT (p.V271Ifs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524560_31524567dup" "" "likely pathogenic" "" "0000564492" "0" "30" "18" "29104537" "29104537" "subst" "0" "02327" "DSG2_000316" "g.29104537G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524574G>A" "" "likely benign" "" "0000564493" "0" "10" "18" "29104564" "29104564" "subst" "0.255834" "02327" "DSG2_000023" "g.29104564C>A" "" "" "" "DSG2(NM_001943.3):c.828+16C>A, DSG2(NM_001943.5):c.828+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524601C>A" "" "benign" "" "0000564494" "0" "30" "18" "29104651" "29104651" "subst" "0" "02326" "DSG2_000224" "g.29104651G>C" "" "" "" "DSG2(NM_001943.3):c.829-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524688G>C" "" "likely benign" "" "0000564495" "0" "30" "18" "29104661" "29104661" "del" "0" "02327" "DSG2_000317" "g.29104661del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524698del" "" "likely benign" "" "0000564496" "0" "30" "18" "29104689" "29104689" "subst" "0.000483799" "02327" "DSG2_000090" "g.29104689T>C" "" "" "" "DSG2(NM_001943.3):c.852T>C (p.N284=), DSG2(NM_001943.5):c.852T>C (p.N284=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524726T>C" "" "likely benign" "" "0000564497" "0" "10" "18" "29104698" "29104698" "subst" "0.407653" "02327" "DSG2_000025" "g.29104698C>T" "" "" "" "DSG2(NM_001943.3):c.861C>T (p.N287=), DSG2(NM_001943.5):c.861C>T (p.N287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524735C>T" "" "benign" "" "0000564498" "0" "50" "18" "29104699" "29104699" "subst" "0.0000487765" "02327" "DSG2_000228" "g.29104699G>A" "" "" "" "DSG2(NM_001943.5):c.862G>A (p.V288I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524736G>A" "" "VUS" "" "0000564499" "0" "50" "18" "29104711" "29104711" "subst" "0.0000487745" "02330" "DSG2_000117" "g.29104711C>T" "" "" "" "DSG2(NM_001943.3):c.874C>T (p.R292C), DSG2(NM_001943.5):c.874C>T (p.R292C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524748C>T" "" "VUS" "" "0000564504" "0" "10" "18" "29104878" "29104878" "subst" "0.258752" "02327" "DSG2_000032" "g.29104878G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524915G>A" "" "benign" "" "0000564505" "0" "30" "18" "29110911" "29110911" "subst" "0.00000819686" "02327" "DSG2_000318" "g.29110911T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31530948T>C" "" "likely benign" "" "0000564506" "0" "10" "18" "29110986" "29110986" "subst" "0.000581391" "02330" "DSG2_000124" "g.29110986A>G" "" "" "" "DSG2(NM_001943.3):c.1051A>G (p.S351G), DSG2(NM_001943.5):c.1051A>G (p.S351G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531023A>G" "" "benign" "" "0000564507" "0" "30" "18" "29110986" "29110986" "subst" "0.000581391" "01943" "DSG2_000124" "g.29110986A>G" "" "" "" "DSG2(NM_001943.3):c.1051A>G (p.S351G), DSG2(NM_001943.5):c.1051A>G (p.S351G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531023A>G" "" "likely benign" "" "0000564508" "0" "30" "18" "29110986" "29110986" "subst" "0.000581391" "02326" "DSG2_000124" "g.29110986A>G" "" "" "" "DSG2(NM_001943.3):c.1051A>G (p.S351G), DSG2(NM_001943.5):c.1051A>G (p.S351G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531023A>G" "" "likely benign" "" "0000564509" "0" "30" "18" "29110998" "29110998" "subst" "0" "02326" "DSG2_000319" "g.29110998G>A" "" "" "" "DSG2(NM_001943.3):c.1063G>A (p.A355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531035G>A" "" "likely benign" "" "0000564510" "0" "50" "18" "29111030" "29111030" "subst" "0.0000121928" "02330" "DSG2_000320" "g.29111030G>C" "" "" "" "DSG2(NM_001943.3):c.1095G>C (p.R365S), DSG2(NM_001943.5):c.1095G>C (p.R365S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531067G>C" "" "VUS" "" "0000564511" "0" "30" "18" "29111030" "29111030" "subst" "0.0000121928" "02327" "DSG2_000320" "g.29111030G>C" "" "" "" "DSG2(NM_001943.3):c.1095G>C (p.R365S), DSG2(NM_001943.5):c.1095G>C (p.R365S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531067G>C" "" "likely benign" "" "0000564512" "0" "30" "18" "29111030" "29111030" "subst" "0.0000121928" "02325" "DSG2_000320" "g.29111030G>C" "" "" "" "DSG2(NM_001943.3):c.1095G>C (p.R365S), DSG2(NM_001943.5):c.1095G>C (p.R365S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531067G>C" "" "likely benign" "" "0000564513" "0" "30" "18" "29111030" "29111030" "subst" "0.0000121928" "02326" "DSG2_000320" "g.29111030G>C" "" "" "" "DSG2(NM_001943.3):c.1095G>C (p.R365S), DSG2(NM_001943.5):c.1095G>C (p.R365S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531067G>C" "" "likely benign" "" "0000564514" "0" "50" "18" "29111044" "29111044" "dup" "0" "02330" "DSG2_000321" "g.29111044dup" "" "" "" "DSG2(NM_001943.5):c.1109dupC (p.T371Yfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531081dup" "" "VUS" "" "0000564515" "0" "30" "18" "29111232" "29111232" "subst" "0.00087439" "02326" "DSG2_000322" "g.29111232C>T" "" "" "" "DSG2(NM_001943.3):c.1280+17C>T, DSG2(NM_001943.5):c.1280+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531269C>T" "" "likely benign" "" "0000564516" "0" "10" "18" "29111364" "29111364" "subst" "0" "02327" "DSG2_000323" "g.29111364G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531401G>A" "" "benign" "" "0000564517" "0" "10" "18" "29115251" "29115251" "subst" "0.0000336166" "02330" "DSG2_000324" "g.29115251T>C" "" "" "" "DSG2(NM_001943.5):c.1299T>C (p.D433=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31535288T>C" "" "benign" "" "0000564518" "0" "30" "18" "29115255" "29115255" "subst" "0.000865428" "01943" "DSG2_000071" "g.29115255G>A" "" "" "" "DSG2(NM_001943.3):c.1303G>A (p.D435N), DSG2(NM_001943.5):c.1303G>A (p.D435N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31535292G>A" "" "likely benign" "" "0000564519" "0" "30" "18" "29115255" "29115255" "subst" "0.000865428" "02327" "DSG2_000071" "g.29115255G>A" "" "" "" "DSG2(NM_001943.3):c.1303G>A (p.D435N), DSG2(NM_001943.5):c.1303G>A (p.D435N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31535292G>A" "" "likely benign" "" "0000564520" "0" "50" "18" "29116189" "29116189" "subst" "0" "02327" "DSG2_000325" "g.29116189G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536226G>A" "" "VUS" "" "0000564521" "0" "30" "18" "29116199" "29116199" "subst" "0.00000406527" "02327" "DSG2_000326" "g.29116199T>C" "" "" "" "DSG2(NM_001943.5):c.1458T>C (p.L486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536236T>C" "" "likely benign" "" "0000564522" "0" "50" "18" "29116207" "29116207" "subst" "0.00000406491" "02327" "DSG2_000327" "g.29116207T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536244T>C" "" "VUS" "" "0000564523" "0" "50" "18" "29116219" "29116219" "subst" "0.0000528352" "02326" "DSG2_000133" "g.29116219A>G" "" "" "" "DSG2(NM_001943.3):c.1478A>G (p.N493S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536256A>G" "" "VUS" "" "0000564524" "0" "50" "18" "29116243" "29116243" "subst" "0" "02330" "DSG2_000328" "g.29116243A>G" "" "" "" "DSG2(NM_001943.5):c.1502A>G (p.E501G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536280A>G" "" "VUS" "" "0000564525" "0" "10" "18" "29116265" "29116265" "subst" "0.0000934617" "02330" "DSG2_000329" "g.29116265C>T" "" "" "" "DSG2(NM_001943.5):c.1524C>T (p.H508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536302C>T" "" "benign" "" "0000564526" "0" "30" "18" "29116266" "29116266" "subst" "0.0000447002" "02327" "DSG2_000330" "g.29116266G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536303G>A" "" "likely benign" "" "0000564527" "0" "10" "18" "29116284" "29116284" "subst" "0.00207637" "02327" "DSG2_000037" "g.29116284G>A" "" "" "" "DSG2(NM_001943.3):c.1543G>A (p.V515I), DSG2(NM_001943.5):c.1543G>A (p.V515I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536321G>A" "" "benign" "" "0000564528" "0" "10" "18" "29116291" "29116291" "subst" "0.000426656" "02330" "DSG2_000135" "g.29116291C>T" "" "" "" "DSG2(NM_001943.3):c.1550C>T (p.A517V), DSG2(NM_001943.5):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536328C>T" "" "benign" "" "0000564529" "0" "30" "18" "29116291" "29116291" "subst" "0.000426656" "01943" "DSG2_000135" "g.29116291C>T" "" "" "" "DSG2(NM_001943.3):c.1550C>T (p.A517V), DSG2(NM_001943.5):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536328C>T" "" "likely benign" "" "0000564530" "0" "30" "18" "29116384" "29116384" "subst" "0.0000613653" "02327" "DSG2_000241" "g.29116384G>A" "" "" "" "DSG2(NM_001943.3):c.1643G>A (p.R548H), DSG2(NM_001943.5):c.1643G>A (p.R548H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536421G>A" "" "likely benign" "" "0000564531" "0" "10" "18" "29116462" "29116462" "subst" "0" "02327" "DSG2_000039" "g.29116462T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536499T>C" "" "benign" "" "0000564532" "0" "30" "18" "29118702" "29118702" "subst" "0.000403242" "02326" "DSG2_000131" "g.29118702C>T" "" "" "" "DSG2(NM_001943.3):c.1652-12C>T, DSG2(NM_001943.5):c.1652-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31538739C>T" "" "likely benign" "" "0000564533" "0" "70" "18" "29118833" "29118833" "subst" "0" "02327" "DSG2_000331" "g.29118833T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31538870T>C" "" "likely pathogenic" "" "0000564534" "0" "30" "18" "29118888" "29118888" "subst" "0.0000162816" "02326" "DSG2_000332" "g.29118888G>T" "" "" "" "DSG2(NM_001943.3):c.1826G>T (p.G609V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31538925G>T" "" "likely benign" "" "0000564535" "0" "10" "18" "29121187" "29121187" "subst" "0.00261448" "02327" "DSG2_000140" "g.29121187C>T" "" "" "" "DSG2(NM_001943.3):c.1911C>T (p.C637=), DSG2(NM_001943.5):c.1911C>T (p.C637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541224C>T" "" "benign" "" "0000564536" "0" "50" "18" "29121188" "29121188" "subst" "0.000117915" "02330" "DSG2_000080" "g.29121188G>A" "" "" "" "DSG2(NM_001943.3):c.1912G>A (p.G638R), DSG2(NM_001943.5):c.1912G>A (p.G638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541225G>A" "" "VUS" "" "0000564537" "0" "50" "18" "29121188" "29121188" "subst" "0.000117915" "01943" "DSG2_000080" "g.29121188G>A" "" "" "" "DSG2(NM_001943.3):c.1912G>A (p.G638R), DSG2(NM_001943.5):c.1912G>A (p.G638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541225G>A" "" "VUS" "" "0000564538" "0" "10" "18" "29121190" "29121190" "subst" "0.0020412" "02327" "DSG2_000141" "g.29121190A>G" "" "" "" "DSG2(NM_001943.3):c.1914A>G (p.G638=), DSG2(NM_001943.5):c.1914A>G (p.G638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541227A>G" "" "benign" "" "0000564539" "0" "30" "18" "29121196" "29121196" "subst" "0.00004473" "01943" "DSG2_000333" "g.29121196C>T" "" "" "" "DSG2(NM_001943.3):c.1920C>T (p.G640=), DSG2(NM_001943.5):c.1920C>T (p.G640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541233C>T" "" "likely benign" "" "0000564540" "0" "30" "18" "29121196" "29121196" "subst" "0.00004473" "02327" "DSG2_000333" "g.29121196C>T" "" "" "" "DSG2(NM_001943.3):c.1920C>T (p.G640=), DSG2(NM_001943.5):c.1920C>T (p.G640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541233C>T" "" "likely benign" "" "0000564541" "0" "30" "18" "29121196" "29121196" "subst" "0.00004473" "02325" "DSG2_000333" "g.29121196C>T" "" "" "" "DSG2(NM_001943.3):c.1920C>T (p.G640=), DSG2(NM_001943.5):c.1920C>T (p.G640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541233C>T" "" "likely benign" "" "0000564542" "0" "30" "18" "29122715" "29122715" "subst" "0.0000610064" "01943" "DSG2_000334" "g.29122715C>T" "" "" "" "DSG2(NM_001943.3):c.2234C>T (p.T745M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542752C>T" "" "likely benign" "" "0000564543" "0" "30" "18" "29122715" "29122715" "subst" "0.0000610064" "02327" "DSG2_000334" "g.29122715C>T" "" "" "" "DSG2(NM_001943.3):c.2234C>T (p.T745M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542752C>T" "" "likely benign" "" "0000564544" "0" "30" "18" "29122722" "29122722" "subst" "0.0000284812" "01943" "DSG2_000335" "g.29122722C>T" "" "" "" "DSG2(NM_001943.3):c.2241C>T (p.T747=), DSG2(NM_001943.5):c.2241C>T (p.T747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542759C>T" "" "likely benign" "" "0000564545" "0" "30" "18" "29122722" "29122722" "subst" "0.0000284812" "02327" "DSG2_000335" "g.29122722C>T" "" "" "" "DSG2(NM_001943.3):c.2241C>T (p.T747=), DSG2(NM_001943.5):c.2241C>T (p.T747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542759C>T" "" "likely benign" "" "0000564546" "0" "10" "18" "29122799" "29122799" "subst" "0.265563" "02327" "DSG2_000046" "g.29122799G>A" "" "" "" "DSG2(NM_001943.3):c.2318G>A (p.R773K), DSG2(NM_001943.5):c.2318G>A (p.R773K), DSG2-AS1(NR_045216.1):n.1810+266C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542836G>A" "" "benign" "" "0000564547" "0" "30" "18" "29125689" "29125689" "subst" "0.0000529256" "02326" "DSG2_000268" "g.29125689G>T" "" "" "" "DSG2(NM_001943.3):c.2340G>T (p.A780=), DSG2(NM_001943.5):c.2340G>T (p.A780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545726G>T" "" "likely benign" "" "0000564548" "0" "70" "18" "29125698" "29125698" "subst" "0.00000406696" "02325" "DSG2_000148" "g.29125698C>A" "" "" "" "DSG2(NM_001943.5):c.2349C>A (p.Y783*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545735C>A" "" "likely pathogenic" "" "0000564549" "0" "10" "18" "29125717" "29125717" "subst" "0.000292571" "02330" "DSG2_000085" "g.29125717C>T" "" "" "" "DSG2(NM_001943.5):c.2368C>T (p.H790Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545754C>T" "" "benign" "" "0000564551" "0" "50" "18" "29125717" "29125717" "subst" "0.000292571" "02327" "DSG2_000085" "g.29125717C>T" "" "" "" "DSG2(NM_001943.5):c.2368C>T (p.H790Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545754C>T" "" "VUS" "" "0000564552" "0" "30" "18" "29125833" "29125833" "subst" "0.000487928" "01943" "DSG2_000271" "g.29125833T>C" "" "" "" "DSG2(NM_001943.3):c.2484T>C (p.D828=), DSG2(NM_001943.5):c.2484T>C (p.D828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545870T>C" "" "likely benign" "" "0000564553" "0" "30" "18" "29125833" "29125833" "subst" "0.000487928" "02327" "DSG2_000271" "g.29125833T>C" "" "" "" "DSG2(NM_001943.3):c.2484T>C (p.D828=), DSG2(NM_001943.5):c.2484T>C (p.D828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545870T>C" "" "likely benign" "" "0000564554" "0" "10" "18" "29125854" "29125854" "subst" "0.124758" "02327" "DSG2_000050" "g.29125854A>G" "" "" "" "DSG2(NM_001943.3):c.2505A>G (p.T835=), DSG2(NM_001943.5):c.2505A>G (p.T835=), DSG2-AS1(NR_045216.1):n.1361T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545891A>G" "" "benign" "" "0000564555" "0" "10" "18" "29125936" "29125936" "subst" "0.00162836" "02327" "DSG2_000051" "g.29125936A>C" "" "" "" "DSG2(NM_001943.3):c.2587A>C (p.M863L), DSG2(NM_001943.5):c.2587A>C (p.M863L), DSG2-AS1(NR_045216.1):n.1346-67T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545973A>C" "" "benign" "" "0000564556" "0" "30" "18" "29125968" "29125968" "subst" "0.0000040794" "02327" "DSG2_000336" "g.29125968A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546005A>G" "" "likely benign" "" "0000564557" "0" "50" "18" "29125972" "29125972" "subst" "0.0000285491" "02330" "DSG2_000154" "g.29125972A>G" "" "" "" "DSG2(NM_001943.3):c.2623A>G (p.M875V), DSG2(NM_001943.5):c.2623A>G (p.M875V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546009A>G" "" "VUS" "" "0000564558" "0" "50" "18" "29125972" "29125972" "subst" "0.0000285491" "02325" "DSG2_000154" "g.29125972A>G" "" "" "" "DSG2(NM_001943.3):c.2623A>G (p.M875V), DSG2(NM_001943.5):c.2623A>G (p.M875V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546009A>G" "" "VUS" "" "0000564559" "0" "30" "18" "29125972" "29125972" "subst" "0.0000285491" "02326" "DSG2_000154" "g.29125972A>G" "" "" "" "DSG2(NM_001943.3):c.2623A>G (p.M875V), DSG2(NM_001943.5):c.2623A>G (p.M875V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546009A>G" "" "likely benign" "" "0000564560" "0" "10" "18" "29125992" "29125992" "subst" "0.000232353" "02330" "DSG2_000274" "g.29125992C>T" "" "" "" "DSG2(NM_001943.3):c.2643C>T (p.T881=), DSG2(NM_001943.5):c.2643C>T (p.T881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546029C>T" "" "benign" "" "0000564561" "0" "30" "18" "29125992" "29125992" "subst" "0.000232353" "02327" "DSG2_000274" "g.29125992C>T" "" "" "" "DSG2(NM_001943.3):c.2643C>T (p.T881=), DSG2(NM_001943.5):c.2643C>T (p.T881=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546029C>T" "" "likely benign" "" "0000564562" "0" "10" "18" "29125996" "29125996" "subst" "0.00160578" "02327" "DSG2_000052" "g.29125996T>C" "" "" "" "DSG2(NM_001943.3):c.2647T>C (p.S883P), DSG2(NM_001943.5):c.2647T>C (p.S883P), DSG2-AS1(NR_045216.1):n.1346-127A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546033T>C" "" "benign" "" "0000564563" "0" "30" "18" "29126042" "29126042" "subst" "0.0000122128" "01943" "DSG2_000337" "g.29126042A>G" "" "" "" "DSG2(NM_001943.3):c.2693A>G (p.N898S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546079A>G" "" "likely benign" "" "0000564564" "0" "10" "18" "29126057" "29126057" "subst" "0.00161188" "02327" "DSG2_000277" "g.29126057C>T" "" "" "" "DSG2(NM_001943.3):c.2708C>T (p.T903I), DSG2(NM_001943.5):c.2708C>T (p.T903I), DSG2-AS1(NR_045216.1):n.1346-188G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546094C>T" "" "benign" "" "0000564565" "0" "10" "18" "29126091" "29126091" "subst" "0.0000122054" "02330" "DSG2_000338" "g.29126091T>C" "" "" "" "DSG2(NM_001943.5):c.2742T>C (p.S914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546128T>C" "" "benign" "" "0000564566" "0" "10" "18" "29126108" "29126108" "subst" "0.00361275" "02330" "DSG2_000055" "g.29126108T>G" "" "" "" "DSG2(NM_001943.3):c.2759T>G (p.V920G), DSG2(NM_001943.5):c.2759T>G (p.V920G), DSG2-AS1(NR_045216.1):n.1346-239A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546145T>G" "" "benign" "" "0000564567" "0" "10" "18" "29126108" "29126108" "subst" "0.00361275" "01943" "DSG2_000055" "g.29126108T>G" "" "" "" "DSG2(NM_001943.3):c.2759T>G (p.V920G), DSG2(NM_001943.5):c.2759T>G (p.V920G), DSG2-AS1(NR_045216.1):n.1346-239A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546145T>G" "" "benign" "" "0000564568" "0" "10" "18" "29126108" "29126108" "subst" "0.00361275" "02325" "DSG2_000055" "g.29126108T>G" "" "" "" "DSG2(NM_001943.3):c.2759T>G (p.V920G), DSG2(NM_001943.5):c.2759T>G (p.V920G), DSG2-AS1(NR_045216.1):n.1346-239A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546145T>G" "" "benign" "" "0000564569" "0" "30" "18" "29126108" "29126108" "subst" "0.00361275" "02326" "DSG2_000055" "g.29126108T>G" "" "" "" "DSG2(NM_001943.3):c.2759T>G (p.V920G), DSG2(NM_001943.5):c.2759T>G (p.V920G), DSG2-AS1(NR_045216.1):n.1346-239A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546145T>G" "" "likely benign" "" "0000564570" "0" "30" "18" "29126217" "29126217" "subst" "0" "02326" "DSG2_000339" "g.29126217C>T" "" "" "" "DSG2(NM_001943.3):c.2868C>T (p.S956=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546254C>T" "" "likely benign" "" "0000564571" "0" "50" "18" "29126315" "29126315" "subst" "0" "02325" "DSG2_000340" "g.29126315A>T" "" "" "" "DSG2(NM_001943.5):c.2966A>T (p.E989V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546352A>T" "" "VUS" "" "0000564572" "0" "50" "18" "29126344" "29126344" "subst" "0.0000122007" "02330" "DSG2_000281" "g.29126344T>C" "" "" "" "DSG2(NM_001943.3):c.2995T>C (p.S999P), DSG2(NM_001943.5):c.2995T>C (p.S999P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546381T>C" "" "VUS" "" "0000564573" "0" "50" "18" "29126389" "29126389" "subst" "0.000081281" "02327" "DSG2_000161" "g.29126389G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546426G>A" "" "VUS" "" "0000564574" "0" "50" "18" "29126393" "29126393" "subst" "0.00000812737" "02327" "DSG2_000341" "g.29126393T>C" "" "" "" "DSG2(NM_001943.3):c.3044T>C (p.M1015T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546430T>C" "" "VUS" "" "0000564575" "0" "50" "18" "29126393" "29126393" "subst" "0.00000812737" "01943" "DSG2_000341" "g.29126393T>C" "" "" "" "DSG2(NM_001943.3):c.3044T>C (p.M1015T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546430T>C" "" "VUS" "" "0000564576" "0" "30" "18" "29126444" "29126444" "subst" "0.0000487591" "02327" "DSG2_000342" "g.29126444C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546481C>T" "" "likely benign" "" "0000564577" "0" "50" "18" "29126495" "29126495" "subst" "0" "02327" "DSG2_000343" "g.29126495G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546532G>T" "" "VUS" "" "0000564578" "0" "30" "18" "29126524" "29126524" "subst" "0.000251938" "02330" "DSG2_000344" "g.29126524T>A" "" "" "" "DSG2(NM_001943.5):c.3175T>A (p.S1059T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546561T>A" "" "likely benign" "" "0000564579" "0" "30" "18" "29126558" "29126558" "subst" "0.00180463" "02330" "DSG2_000076" "g.29126558C>T" "" "" "" "DSG2(NM_001943.3):c.3209C>T (p.T1070M), DSG2(NM_001943.5):c.3209C>T (p.T1070M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546595C>T" "" "likely benign" "" "0000564580" "0" "30" "18" "29126558" "29126558" "subst" "0.00180463" "01943" "DSG2_000076" "g.29126558C>T" "" "" "" "DSG2(NM_001943.3):c.3209C>T (p.T1070M), DSG2(NM_001943.5):c.3209C>T (p.T1070M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546595C>T" "" "likely benign" "" "0000564581" "0" "30" "18" "29126558" "29126558" "subst" "0.00180463" "02325" "DSG2_000076" "g.29126558C>T" "" "" "" "DSG2(NM_001943.3):c.3209C>T (p.T1070M), DSG2(NM_001943.5):c.3209C>T (p.T1070M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546595C>T" "" "likely benign" "" "0000564582" "0" "30" "18" "29126558" "29126558" "subst" "0.00180463" "02326" "DSG2_000076" "g.29126558C>T" "" "" "" "DSG2(NM_001943.3):c.3209C>T (p.T1070M), DSG2(NM_001943.5):c.3209C>T (p.T1070M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546595C>T" "" "likely benign" "" "0000564583" "0" "30" "18" "29126574" "29126574" "subst" "0.0000203242" "01943" "DSG2_000283" "g.29126574G>A" "" "" "" "DSG2(NM_001943.3):c.3225G>A (p.T1075=), DSG2(NM_001943.5):c.3225G>A (p.T1075=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546611G>A" "" "likely benign" "" "0000564584" "0" "10" "18" "29126592" "29126592" "subst" "0.0058088" "02327" "DSG2_000059" "g.29126592C>T" "" "" "" "DSG2(NM_001943.3):c.3243C>T (p.V1081=), DSG2(NM_001943.5):c.3243C>T (p.V1081=), DSG2-AS1(NR_045216.1):n.1346-723G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546629C>T" "" "benign" "" "0000564585" "0" "10" "18" "29126644" "29126644" "subst" "0.000305116" "02330" "DSG2_000168" "g.29126644A>G" "" "" "" "DSG2(NM_001943.3):c.3295A>G (p.T1099A), DSG2(NM_001943.5):c.3295A>G (p.T1099A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546681A>G" "" "benign" "" "0000564586" "0" "30" "18" "29126644" "29126644" "subst" "0.000305116" "01943" "DSG2_000168" "g.29126644A>G" "" "" "" "DSG2(NM_001943.3):c.3295A>G (p.T1099A), DSG2(NM_001943.5):c.3295A>G (p.T1099A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546681A>G" "" "likely benign" "" "0000564587" "0" "50" "18" "29126644" "29126644" "subst" "0.000305116" "02327" "DSG2_000168" "g.29126644A>G" "" "" "" "DSG2(NM_001943.3):c.3295A>G (p.T1099A), DSG2(NM_001943.5):c.3295A>G (p.T1099A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546681A>G" "" "VUS" "" "0000564588" "0" "10" "18" "29126670" "29126670" "subst" "0.422014" "02327" "DSG2_000063" "g.29126670T>C" "" "" "" "DSG2(NM_001943.3):c.3321T>C (p.V1107=), DSG2(NM_001943.5):c.3321T>C (p.V1107=), DSG2-AS1(NR_045216.1):n.1346-801A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546707T>C" "" "benign" "" "0000564589" "0" "10" "18" "29126708" "29126708" "subst" "0.000928422" "02330" "DSG2_000345" "g.29126708C>T" "" "" "" "DSG2(NM_001943.3):c.*2C>T, DSG2(NM_001943.5):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546745C>T" "" "benign" "" "0000564590" "0" "50" "18" "29126708" "29126708" "subst" "0.000928422" "01943" "DSG2_000345" "g.29126708C>T" "" "" "" "DSG2(NM_001943.3):c.*2C>T, DSG2(NM_001943.5):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546745C>T" "" "VUS" "" "0000564591" "0" "30" "18" "29127080" "29127080" "subst" "0" "02327" "DSG2_000346" "g.29127080T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31547117T>C" "" "likely benign" "" "0000564592" "0" "10" "18" "29127271" "29127271" "subst" "0" "02327" "DSG2_000347" "g.29127271A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31547308A>G" "" "benign" "" "0000617050" "0" "10" "18" "29078277" "29078277" "subst" "0" "02330" "DSG2_000348" "g.29078277G>T" "" "" "" "DSG2(NM_001943.5):c.45+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498314G>T" "" "benign" "" "0000617051" "0" "30" "18" "29099850" "29099850" "subst" "0.00186884" "02327" "DSG2_000008" "g.29099850G>A" "" "" "" "DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519887G>A" "" "likely benign" "" "0000617053" "0" "10" "18" "29101220" "29101220" "subst" "0" "02330" "DSG2_000349" "g.29101220T>G" "" "" "" "DSG2(NM_001943.5):c.523+14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31521257T>G" "" "benign" "" "0000617054" "0" "30" "18" "29102122" "29102122" "subst" "0.00000812876" "02327" "DSG2_000350" "g.29102122C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31522159C>A" "" "likely benign" "" "0000617055" "0" "50" "18" "29102160" "29102160" "subst" "0" "02327" "DSG2_000351" "g.29102160T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31522197T>G" "" "VUS" "" "0000617056" "0" "50" "18" "29104698" "29104699" "delins" "0" "02327" "DSG2_000352" "g.29104698_29104699delinsTA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524735_31524736delinsTA" "" "VUS" "" "0000617057" "0" "10" "18" "29104714" "29104714" "subst" "0.0691757" "02327" "DSG2_000026" "g.29104714A>G" "" "" "" "DSG2(NM_001943.3):c.877A>G (p.I293V), DSG2(NM_001943.5):c.877A>G (p.I293V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31524751A>G" "" "benign" "" "0000617059" "0" "10" "18" "29110986" "29110986" "subst" "0.000581391" "02327" "DSG2_000124" "g.29110986A>G" "" "" "" "DSG2(NM_001943.3):c.1051A>G (p.S351G), DSG2(NM_001943.5):c.1051A>G (p.S351G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531023A>G" "" "benign" "" "0000617060" "0" "50" "18" "29111007" "29111007" "subst" "0.00000812922" "01943" "DSG2_000125" "g.29111007G>A" "" "" "" "DSG2(NM_001943.3):c.1072G>A (p.A358T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531044G>A" "" "VUS" "" "0000617061" "0" "50" "18" "29111103" "29111103" "dup" "0" "02325" "DSG2_000127" "g.29111103dup" "" "" "" "DSG2(NM_001943.5):c.1168dupA (p.S390Kfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531140dup" "" "VUS" "" "0000617062" "0" "10" "18" "29111109" "29111109" "subst" "0.00225959" "02327" "DSG2_000033" "g.29111109G>A" "" "" "" "DSG2(NM_001943.3):c.1174G>A (p.V392I), DSG2(NM_001943.5):c.1174G>A (p.V392I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531146G>A" "" "benign" "" "0000617063" "0" "30" "18" "29115300" "29115300" "subst" "0" "02327" "DSG2_000353" "g.29115300G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31535337G>A" "" "likely benign" "" "0000617064" "0" "10" "18" "29116291" "29116291" "subst" "0.000426656" "02327" "DSG2_000135" "g.29116291C>T" "" "" "" "DSG2(NM_001943.3):c.1550C>T (p.A517V), DSG2(NM_001943.5):c.1550C>T (p.A517V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31536328C>T" "" "benign" "" "0000617065" "0" "10" "18" "29118702" "29118702" "subst" "0.000403242" "02330" "DSG2_000131" "g.29118702C>T" "" "" "" "DSG2(NM_001943.3):c.1652-12C>T, DSG2(NM_001943.5):c.1652-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31538739C>T" "" "benign" "" "0000617066" "0" "10" "18" "29118843" "29118843" "subst" "0.000626546" "02330" "DSG2_000136" "g.29118843T>C" "" "" "" "DSG2(NM_001943.3):c.1781T>C (p.L594P), DSG2(NM_001943.5):c.1781T>C (p.L594P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31538880T>C" "" "benign" "" "0000617067" "0" "30" "18" "29118913" "29118913" "subst" "0.000211823" "02327" "DSG2_000249" "g.29118913C>T" "" "" "" "DSG2(NM_001943.3):c.1851C>T (p.L617=), DSG2(NM_001943.5):c.1851C>T (p.L617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31538950C>T" "" "likely benign" "" "0000617068" "0" "50" "18" "29121188" "29121188" "subst" "0.000117915" "02327" "DSG2_000080" "g.29121188G>A" "" "" "" "DSG2(NM_001943.3):c.1912G>A (p.G638R), DSG2(NM_001943.5):c.1912G>A (p.G638R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31541225G>A" "" "VUS" "" "0000617069" "0" "10" "18" "29122618" "29122618" "subst" "0.0530993" "02327" "DSG2_000045" "g.29122618G>A" "" "" "" "DSG2(NM_001943.3):c.2137G>A (p.E713K), DSG2(NM_001943.5):c.2137G>A (p.E713K), DSG2-AS1(NR_045216.1):n.1811-334C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542655G>A" "" "benign" "" "0000617070" "0" "10" "18" "29122692" "29122692" "subst" "0.000613612" "02330" "DSG2_000263" "g.29122692C>T" "" "" "" "DSG2(NM_001943.3):c.2211C>T (p.G737=), DSG2(NM_001943.5):c.2211C>T (p.G737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542729C>T" "" "benign" "" "0000617071" "0" "70" "18" "29122816" "29122816" "subst" "0" "02327" "DSG2_000354" "g.29122816G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542853G>A" "" "likely pathogenic" "" "0000617072" "0" "10" "18" "29125935" "29125935" "subst" "0.000591914" "02330" "DSG2_000356" "g.29125935T>C" "" "" "" "DSG2(NM_001943.3):c.2586T>C (p.S862=), DSG2(NM_001943.5):c.2586T>C (p.S862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545972T>C" "" "benign" "" "0000617073" "0" "30" "18" "29125961" "29125961" "subst" "0" "02327" "DSG2_000357" "g.29125961G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545998G>T" "" "likely benign" "" "0000617074" "0" "50" "18" "29126096" "29126096" "subst" "0" "02325" "DSG2_000358" "g.29126096A>G" "" "" "" "DSG2(NM_001943.5):c.2747A>G (p.Q916R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546133A>G" "" "VUS" "" "0000617076" "0" "10" "18" "29126235" "29126235" "subst" "0.000613791" "02330" "DSG2_000160" "g.29126235T>G" "" "" "" "DSG2(NM_001943.3):c.2886T>G (p.I962M), DSG2(NM_001943.5):c.2886T>G (p.I962M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546272T>G" "" "benign" "" "0000617077" "0" "30" "18" "29126333" "29126333" "subst" "0" "02327" "DSG2_000359" "g.29126333A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546370A>T" "" "likely benign" "" "0000617078" "0" "30" "18" "29126376" "29126376" "subst" "0.00000406435" "02326" "DSG2_000294" "g.29126376A>G" "" "" "" "DSG2(NM_001943.3):c.3027A>G (p.Q1009=), DSG2(NM_001943.5):c.3027A>G (p.Q1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546413A>G" "" "likely benign" "" "0000617079" "0" "50" "18" "29126376" "29126376" "del" "0" "01943" "DSG2_000360" "g.29126376del" "" "" "" "DSG2(NM_001943.3):c.3027delA (p.D1010Mfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546413del" "" "VUS" "" "0000617080" "0" "70" "18" "29126424" "29126424" "del" "0" "01943" "DSG2_000361" "g.29126424del" "" "" "" "DSG2(NM_001943.3):c.3075delC (p.S1026Afs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546461del" "" "likely pathogenic" "" "0000617081" "0" "30" "18" "29126653" "29126653" "subst" "0.00000406888" "02327" "DSG2_000362" "g.29126653A>G" "" "" "" "DSG2(NM_001943.3):c.3304A>G (p.T1102A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546690A>G" "" "likely benign" "" "0000623830" "0" "30" "18" "29099805" "29099805" "subst" "0.000093445" "02330" "DSG2_000171" "g.29099805C>A" "" "" "" "DSG2(NM_001943.5):c.121C>A (p.H41N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519842C>A" "" "likely benign" "" "0000623831" "0" "10" "18" "29100822" "29100822" "subst" "0.00017894" "02330" "DSG2_000208" "g.29100822A>G" "" "" "" "DSG2(NM_001943.3):c.273A>G (p.G91=), DSG2(NM_001943.5):c.273A>G (p.G91=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31520859A>G" "" "benign" "" "0000623832" "0" "30" "18" "29115328" "29115328" "subst" "0.00116036" "01943" "DSG2_000184" "g.29115328A>G" "" "" "" "DSG2(NM_001943.3):c.1376A>G (p.Y459C), DSG2(NM_001943.5):c.1376A>G (p.Y459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31535365A>G" "" "likely benign" "" "0000623833" "0" "30" "18" "29122692" "29122692" "subst" "0.000613612" "01943" "DSG2_000263" "g.29122692C>T" "" "" "" "DSG2(NM_001943.3):c.2211C>T (p.G737=), DSG2(NM_001943.5):c.2211C>T (p.G737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542729C>T" "" "likely benign" "" "0000623834" "0" "30" "18" "29125855" "29125855" "subst" "0.0000203424" "02325" "DSG2_000355" "g.29125855C>G" "" "" "" "DSG2(NM_001943.3):c.2506C>G (p.L836V), DSG2(NM_001943.5):c.2506C>G (p.L836V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545892C>G" "" "likely benign" "" "0000623835" "0" "30" "18" "29125935" "29125935" "subst" "0.000591914" "01943" "DSG2_000356" "g.29125935T>C" "" "" "" "DSG2(NM_001943.3):c.2586T>C (p.S862=), DSG2(NM_001943.5):c.2586T>C (p.S862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545972T>C" "" "likely benign" "" "0000623836" "0" "30" "18" "29126235" "29126235" "subst" "0.000613791" "01943" "DSG2_000160" "g.29126235T>G" "" "" "" "DSG2(NM_001943.3):c.2886T>G (p.I962M), DSG2(NM_001943.5):c.2886T>G (p.I962M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31546272T>G" "" "likely benign" "" "0000649789" "1" "50" "18" "29099850" "29099850" "subst" "0.00186884" "03575" "DSG2_000008" "g.29099850G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs121913013}" "Germline" "" "rs121913013" "0" "" "" "g.31519887G>A" "" "VUS" "" "0000649790" "1" "30" "18" "29101156" "29101156" "subst" "0.0053432" "03575" "DSG2_000016" "g.29101156T>G" "9/2691 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous; {DB:CLININrs191143292}" "Germline" "" "rs191143292" "0" "" "" "g.31521193T>G" "" "likely benign" "" "0000649791" "1" "50" "18" "29115328" "29115328" "subst" "0.00116036" "03575" "DSG2_000184" "g.29115328A>G" "52/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 52 heterozygous; {DB:CLININrs576404380}" "Germline" "" "rs576404380" "0" "" "" "g.31535365A>G" "" "VUS" "" "0000658343" "0" "30" "18" "29078220" "29078220" "subst" "0.0095311" "01943" "DSG2_000094" "g.29078220G>A" "" "" "" "DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31498257G>A" "" "likely benign" "" "0000658344" "0" "30" "18" "29099916" "29099916" "subst" "0.000796722" "02326" "DSG2_000204" "g.29099916G>A" "" "" "" "DSG2(NM_001943.3):c.216+16G>A, DSG2(NM_001943.5):c.216+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31519953G>A" "" "likely benign" "" "0000658345" "0" "30" "18" "29111051" "29111051" "subst" "0.0000162555" "01943" "DSG2_000363" "g.29111051C>G" "" "" "" "DSG2(NM_001943.3):c.1116C>G (p.P372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31531088C>G" "" "likely benign" "" "0000658346" "0" "70" "18" "29115232" "29115232" "subst" "0" "02330" "DSG2_000364" "g.29115232G>A" "" "" "" "DSG2(NM_001943.5):c.1281-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31535269G>A" "" "likely pathogenic" "" "0000658347" "0" "10" "18" "29118951" "29118951" "del" "0" "02330" "DSG2_000365" "g.29118951del" "" "" "" "DSG2(NM_001943.5):c.1879+10delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31538988del" "" "benign" "" "0000658348" "0" "50" "18" "29122774" "29122774" "subst" "0" "01943" "DSG2_000366" "g.29122774G>A" "" "" "" "DSG2(NM_001943.3):c.2293G>A (p.V765I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31542811G>A" "" "VUS" "" "0000658349" "0" "50" "18" "29125838" "29125838" "subst" "0.00000813266" "02330" "DSG2_000367" "g.29125838G>C" "" "" "" "DSG2(NM_001943.5):c.2489G>C (p.G830A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31545875G>C" "" "VUS" "" "0000667443" "0" "70" "18" "29098238" "29098238" "subst" "0" "01164" "DSG2_000369" "g.29098238G>C" "" "" "" "" "ACMG PVS1, PM2" "Germline" "?" "" "0" "" "" "g.31518275G>C" "" "likely pathogenic" "ACMG" "0000669438" "3" "30" "18" "29101156" "29101156" "subst" "0.0053432" "03575" "DSG2_000016" "g.29101156T>G" "1/2691 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs191143292}" "Germline" "" "rs191143292" "0" "" "" "g.31521193T>G" "" "likely benign" "" "0000669439" "3" "50" "18" "29115328" "29115328" "subst" "0.00116036" "03575" "DSG2_000184" "g.29115328A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs576404380}" "Germline" "" "rs576404380" "0" "" "" "g.31535365A>G" "" "VUS" "" "0000670173" "0" "70" "18" "29126408" "29126411" "del" "0" "01164" "DSG2_000163" "g.29126408_29126411del" "" "" "" "" "this variant was detected and reported as an incidental finding; variant found in 3 families with ARVC" "Germline" "?" "" "" "" "" "g.31546445_31546448del" "" "likely pathogenic" "ACMG" "0000670174" "0" "70" "18" "29078217" "29078217" "subst" "0" "01164" "DSG2_000371" "g.29078217G>A" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.31498254G>A" "" "likely pathogenic" "ACMG" "0000670175" "0" "70" "18" "29126374" "29126374" "subst" "0" "01164" "DSG2_000370" "g.29126374C>T" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.31546411C>T" "" "likely pathogenic" "ACMG" "0000670180" "0" "50" "18" "29126689" "29126689" "subst" "0" "01164" "DSG2_000190" "g.29126689C>T" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual. Reason: class 3 (PVS1-moderate, PM2)" "Germline" "?" "" "" "" "" "g.31546726C>T" "" "VUS" "ACMG" "0000681119" "0" "50" "18" "29101113" "29101113" "subst" "0.0000528533" "02330" "DSG2_000306" "g.29101113G>A" "" "" "" "DSG2(NM_001943.3):c.430G>A (p.E144K), DSG2(NM_001943.5):c.430G>A (p.E144K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681120" "0" "50" "18" "29101128" "29101128" "subst" "0.0000284539" "02330" "DSG2_000307" "g.29101128G>A" "" "" "" "DSG2(NM_001943.3):c.445G>A (p.V149I), DSG2(NM_001943.5):c.445G>A (p.V149I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681121" "0" "50" "18" "29104711" "29104711" "subst" "0.0000487745" "01943" "DSG2_000117" "g.29104711C>T" "" "" "" "DSG2(NM_001943.3):c.874C>T (p.R292C), DSG2(NM_001943.5):c.874C>T (p.R292C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681122" "0" "50" "18" "29115230" "29115230" "subst" "0" "02330" "DSG2_000372" "g.29115230C>G" "" "" "" "DSG2(NM_001943.5):c.1281-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681123" "0" "30" "18" "29115344" "29115344" "subst" "0.0000204073" "02330" "DSG2_000373" "g.29115344A>G" "" "" "" "DSG2(NM_001943.5):c.1392A>G (p.T464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681124" "0" "50" "18" "29118905" "29118905" "subst" "0.00000814432" "02330" "DSG2_000374" "g.29118905A>G" "" "" "" "DSG2(NM_001943.5):c.1843A>G (p.I615V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681125" "0" "30" "18" "29126577" "29126577" "subst" "0.0000121935" "02326" "DSG2_000375" "g.29126577G>A" "" "" "" "DSG2(NM_001943.3):c.3228G>A (p.V1076=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681126" "0" "30" "18" "29126647" "29126647" "subst" "0" "02326" "DSG2_000376" "g.29126647A>G" "" "" "" "DSG2(NM_001943.3):c.3298A>G (p.I1100V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692568" "0" "30" "18" "29101120" "29101120" "subst" "0.00000406527" "01943" "DSG2_000077" "g.29101120G>A" "" "" "" "DSG2(NM_001943.3):c.437G>A (p.R146H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692569" "0" "50" "18" "29102079" "29102079" "subst" "0" "02325" "DSG2_000377" "g.29102079C>T" "" "" "" "DSG2(NM_001943.5):c.557C>T (p.A186V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692570" "0" "70" "18" "29126477" "29126477" "del" "0" "02330" "DSG2_000378" "g.29126477del" "" "" "" "DSG2(NM_001943.5):c.3128delA (p.N1043Mfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000700614" "0" "50" "18" "29099782" "29099782" "subst" "0.00000812731" "00006" "DSG2_000380" "g.29099782A>G" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31519819A>G" "" "VUS" "" "0000700755" "0" "70" "18" "29099820" "29099820" "subst" "0.00000406289" "00006" "DSG2_000097" "g.29099820C>T" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31519857C>T" "" "likely pathogenic" "" "0000700756" "0" "70" "18" "29099829" "29099829" "subst" "0.00000812579" "00006" "DSG2_000303" "g.29099829C>T" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31519866C>T" "" "likely pathogenic" "" "0000700757" "0" "70" "18" "29099830" "29099830" "subst" "0.00000406279" "00006" "DSG2_000007" "g.29099830G>A" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31519867G>A" "" "likely pathogenic" "" "0000700758" "0" "50" "18" "29099862" "29099862" "subst" "0" "00006" "DSG2_000381" "g.29099862G>A" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31519899G>A" "" "VUS" "" "0000700759" "0" "90" "18" "29101178" "29101178" "dup" "0" "00006" "DSG2_000382" "g.29101178dup" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31521215dup" "" "pathogenic" "" "0000700760" "0" "70" "18" "29101207" "29101207" "subst" "0.00000425677" "00006" "DSG2_000383" "g.29101207G>A" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31521244G>A" "" "likely pathogenic" "" "0000700761" "0" "70" "18" "29104689" "29104692" "del" "0" "00006" "DSG2_000384" "g.29104689_29104692del" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31524726_31524729del" "" "likely pathogenic" "" "0000700762" "0" "50" "18" "29104711" "29104711" "subst" "0.0000487745" "00006" "DSG2_000117" "g.29104711C>T" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31524748C>T" "" "VUS" "" "0000700763" "0" "50" "18" "29104745" "29104745" "subst" "0.00000812717" "00006" "DSG2_000385" "g.29104745C>T" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31524782C>T" "" "VUS" "" "0000700764" "0" "70" "18" "29110973" "29110975" "del" "0" "00006" "DSG2_000123" "g.29110973_29110975del" "2/354 cases" "{PMID:Walsh 2017:27532257}" "" "1038_1040delGAA" "" "Germline" "" "" "0" "" "" "g.31531010_31531012del" "" "likely pathogenic" "" "0000700765" "0" "70" "18" "29118827" "29118828" "ins" "0" "00006" "DSG2_000386" "g.29118827_29118828insAA" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31538864_31538865insAA" "" "likely pathogenic" "" "0000700766" "0" "90" "18" "29121154" "29121154" "subst" "0" "00006" "DSG2_000387" "g.29121154A>G" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31541191A>G" "" "pathogenic" "" "0000700767" "0" "50" "18" "29122813" "29122813" "subst" "0" "00006" "DSG2_000388" "g.29122813G>T" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31542850G>T" "" "VUS" "" "0000700768" "0" "70" "18" "29125783" "29125783" "subst" "0.0000243815" "00006" "DSG2_000149" "g.29125783G>A" "2/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31545820G>A" "" "likely pathogenic" "" "0000700769" "0" "50" "18" "29126691" "29126691" "subst" "0" "00006" "DSG2_000389" "g.29126691G>T" "1/354 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31546728G>T" "" "VUS" "" "0000701518" "0" "30" "18" "29102067" "29102067" "subst" "0.0000325214" "00006" "DSG2_000108" "g.29102067A>G" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31522104A>G" "" "likely benign" "" "0000701519" "0" "50" "18" "29126389" "29126389" "subst" "0.000081281" "00006" "DSG2_000161" "g.29126389G>A" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.31546426G>A" "" "VUS" "" "0000701766" "3" "70" "18" "29102198" "29102202" "del" "0" "00006" "DSG2_000379" "g.29102198_29102202del" "" "{PMID:Haskell 2017:28611029}" "" "674_678delTTACC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000704339" "0" "50" "18" "29126387" "29126387" "subst" "0.00000406402" "00006" "DSG2_000390" "g.29126387A>C" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.31546424A>C" "" "VUS" "ACMG" "0000714761" "0" "50" "18" "29098238" "29098238" "subst" "0" "01164" "DSG2_000369" "g.29098238G>C" "" "" "" "" "ACMG: PVS1_m, PM2: class 3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000726848" "0" "10" "18" "29078275" "29078275" "subst" "0.000615114" "02326" "DSG2_000198" "g.29078275G>C" "" "" "" "DSG2(NM_001943.3):c.45+16G>C, DSG2(NM_001943.5):c.45+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726849" "0" "30" "18" "29102095" "29102095" "subst" "0" "02325" "DSG2_000391" "g.29102095C>A" "" "" "" "DSG2(NM_001943.5):c.573C>A (p.T191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726850" "0" "30" "18" "29104712" "29104712" "subst" "0.0000812942" "02326" "DSG2_000118" "g.29104712G>A" "" "" "" "DSG2(NM_001943.3):c.875G>A (p.R292H), DSG2(NM_001943.5):c.875G>A (p.R292H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726851" "0" "30" "18" "29116338" "29116338" "subst" "0.000296794" "02326" "DSG2_000240" "g.29116338G>A" "" "" "" "DSG2(NM_001943.3):c.1597G>A (p.V533I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726852" "0" "50" "18" "29122591" "29122591" "subst" "0.0000121908" "02330" "DSG2_000075" "g.29122591A>G" "" "" "" "DSG2(NM_001943.3):c.2110A>G (p.I704V), DSG2(NM_001943.5):c.2110A>G (p.I704V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726853" "0" "30" "18" "29126052" "29126052" "subst" "0.000329668" "02326" "DSG2_000276" "g.29126052A>G" "" "" "" "DSG2(NM_001943.3):c.2703A>G (p.K901=), DSG2(NM_001943.5):c.2703A>G (p.K901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726854" "0" "50" "18" "29126552" "29126552" "subst" "0" "02325" "DSG2_000392" "g.29126552C>G" "" "" "" "DSG2(NM_001943.5):c.3203C>G (p.S1068C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726855" "0" "50" "18" "29126636" "29126636" "subst" "0" "02325" "DSG2_000393" "g.29126636C>A" "" "" "" "DSG2(NM_001943.5):c.3287C>A (p.S1096Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000787559" "0" "70" "18" "29110956" "29110956" "del" "0" "00000" "DSG2_000394" "g.29110956del" "" "0" "" "c.1021delG" "secondary finding" "Germline" "" "" "0" "" "" "g.31530993del" "" "likely pathogenic" "" "0000808431" "0" "30" "18" "29078229" "29078229" "subst" "0.0000575506" "02326" "DSG2_000395" "g.29078229G>C" "" "" "" "DSG2(NM_001943.3):c.15G>C (p.P5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808432" "0" "30" "18" "29078276" "29078276" "subst" "0" "02326" "DSG2_000396" "g.29078276G>A" "" "" "" "DSG2(NM_001943.3):c.45+17G>A, DSG2(NM_001943.5):c.45+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808433" "0" "70" "18" "29099829" "29099829" "subst" "0.00000812579" "02326" "DSG2_000303" "g.29099829C>T" "" "" "" "DSG2(NM_001943.3):c.145C>T (p.R49C), DSG2(NM_001943.5):c.145C>T (p.R49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808434" "0" "50" "18" "29100905" "29100905" "subst" "0.0000285556" "02330" "DSG2_000397" "g.29100905G>A" "" "" "" "DSG2(NM_001943.5):c.356G>A (p.R119Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808435" "0" "50" "18" "29101199" "29101199" "subst" "0" "02326" "DSG2_000398" "g.29101199T>G" "" "" "" "DSG2(NM_001943.3):c.516T>G (p.S172R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808436" "0" "30" "18" "29104426" "29104426" "subst" "0.000085452" "02326" "DSG2_000399" "g.29104426A>G" "" "" "" "DSG2(NM_001943.3):c.706A>G (p.T236A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808437" "0" "50" "18" "29104700" "29104700" "subst" "0.00000406478" "01943" "DSG2_000400" "g.29104700T>G" "" "" "" "DSG2(NM_001943.3):c.863T>G (p.V288G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808438" "0" "30" "18" "29111030" "29111030" "subst" "0.0000121928" "01943" "DSG2_000320" "g.29111030G>C" "" "" "" "DSG2(NM_001943.3):c.1095G>C (p.R365S), DSG2(NM_001943.5):c.1095G>C (p.R365S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808439" "0" "50" "18" "29116296" "29116296" "subst" "0.00000812691" "02330" "DSG2_000401" "g.29116296G>T" "" "" "" "DSG2(NM_001943.5):c.1555G>T (p.D519Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808440" "0" "30" "18" "29122591" "29122591" "subst" "0.0000121908" "01943" "DSG2_000075" "g.29122591A>G" "" "" "" "DSG2(NM_001943.3):c.2110A>G (p.I704V), DSG2(NM_001943.5):c.2110A>G (p.I704V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808441" "0" "30" "18" "29122692" "29122692" "subst" "0.000613612" "02326" "DSG2_000263" "g.29122692C>T" "" "" "" "DSG2(NM_001943.3):c.2211C>T (p.G737=), DSG2(NM_001943.5):c.2211C>T (p.G737=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808442" "0" "10" "18" "29122722" "29122722" "subst" "0.0000284812" "02330" "DSG2_000335" "g.29122722C>T" "" "" "" "DSG2(NM_001943.3):c.2241C>T (p.T747=), DSG2(NM_001943.5):c.2241C>T (p.T747=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808443" "0" "10" "18" "29125767" "29125767" "subst" "0.0000203179" "02330" "DSG2_000402" "g.29125767G>A" "" "" "" "DSG2(NM_001943.5):c.2418G>A (p.S806=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808444" "0" "50" "18" "29125774" "29125774" "subst" "0" "02325" "DSG2_000403" "g.29125774G>A" "" "" "" "DSG2(NM_001943.5):c.2425G>A (p.A809T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808445" "0" "50" "18" "29125883" "29125887" "dup" "0" "02325" "DSG2_000404" "g.29125883_29125887dup" "" "" "" "DSG2(NM_001943.5):c.2534_2538dupTAGAT (p.I847*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808446" "0" "30" "18" "29125935" "29125935" "subst" "0.000591914" "02326" "DSG2_000356" "g.29125935T>C" "" "" "" "DSG2(NM_001943.3):c.2586T>C (p.S862=), DSG2(NM_001943.5):c.2586T>C (p.S862=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808447" "0" "50" "18" "29126003" "29126003" "subst" "0" "02330" "DSG2_000405" "g.29126003G>A" "" "" "" "DSG2(NM_001943.5):c.2654G>A (p.G885D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808448" "0" "10" "18" "29126145" "29126145" "subst" "0" "02330" "DSG2_000406" "g.29126145T>C" "" "" "" "DSG2(NM_001943.3):c.2796T>C (p.N932=), DSG2(NM_001943.5):c.2796T>C (p.N932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808449" "0" "30" "18" "29126145" "29126145" "subst" "0" "02326" "DSG2_000406" "g.29126145T>C" "" "" "" "DSG2(NM_001943.3):c.2796T>C (p.N932=), DSG2(NM_001943.5):c.2796T>C (p.N932=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808450" "0" "30" "18" "29126235" "29126235" "subst" "0.000613791" "02326" "DSG2_000160" "g.29126235T>G" "" "" "" "DSG2(NM_001943.3):c.2886T>G (p.I962M), DSG2(NM_001943.5):c.2886T>G (p.I962M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808451" "0" "30" "18" "29126376" "29126376" "subst" "0.00000406435" "01943" "DSG2_000294" "g.29126376A>G" "" "" "" "DSG2(NM_001943.3):c.3027A>G (p.Q1009=), DSG2(NM_001943.5):c.3027A>G (p.Q1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808452" "0" "50" "18" "29126667" "29126667" "subst" "0" "01943" "DSG2_000407" "g.29126667A>C" "" "" "" "DSG2(NM_001943.3):c.3318A>C (p.R1106S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000826633" "0" "70" "18" "29099821" "29099821" "subst" "0" "00006" "DSG2_000006" "g.29099821G>A" "" "{PMID:Vissing 2021:33106378}" "" "Arg46Gln" "" "Germline" "" "" "0" "" "" "g.31519858G>A" "" "likely pathogenic" "" "0000855243" "0" "30" "18" "29099831" "29099831" "subst" "0.0000243764" "02326" "DSG2_000408" "g.29099831C>T" "" "" "" "DSG2(NM_001943.3):c.147C>T (p.R49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855244" "0" "30" "18" "29100816" "29100816" "subst" "0" "02327" "DSG2_000409" "g.29100816C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855245" "0" "30" "18" "29100818" "29100818" "subst" "0.00010167" "02327" "DSG2_000410" "g.29100818C>T" "" "" "" "DSG2(NM_001943.5):c.269C>T (p.T90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855246" "0" "50" "18" "29101107" "29101107" "subst" "0.00000406577" "02327" "DSG2_000411" "g.29101107C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855247" "0" "50" "18" "29101146" "29101146" "subst" "0.00000406511" "02327" "DSG2_000412" "g.29101146A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855248" "0" "50" "18" "29104717" "29104717" "subst" "0.0000203202" "02327" "DSG2_000027" "g.29104717A>G" "" "" "" "DSG2(NM_001943.3):c.880A>G (p.K294E), DSG2(NM_001943.5):c.880A>G (p.K294E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855249" "0" "30" "18" "29111225" "29111226" "del" "0" "02327" "DSG2_000413" "g.29111225_29111226del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855250" "0" "30" "18" "29115233" "29115233" "subst" "0" "02327" "DSG2_000414" "g.29115233A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855251" "0" "30" "18" "29118750" "29118750" "subst" "0.000109823" "02327" "DSG2_000415" "g.29118750T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855252" "0" "10" "18" "29118937" "29118937" "subst" "0.000367671" "02330" "DSG2_000042" "g.29118937G>C" "" "" "" "DSG2(NM_001943.3):c.1875G>C (p.L625=), DSG2(NM_001943.5):c.1875G>C (p.L625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855253" "0" "10" "18" "29121187" "29121187" "subst" "0.00261448" "02326" "DSG2_000140" "g.29121187C>T" "" "" "" "DSG2(NM_001943.3):c.1911C>T (p.C637=), DSG2(NM_001943.5):c.1911C>T (p.C637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855254" "0" "10" "18" "29121190" "29121190" "subst" "0.0020412" "02326" "DSG2_000141" "g.29121190A>G" "" "" "" "DSG2(NM_001943.3):c.1914A>G (p.G638=), DSG2(NM_001943.5):c.1914A>G (p.G638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855255" "0" "50" "18" "29125855" "29125855" "subst" "0.0000203424" "01943" "DSG2_000355" "g.29125855C>G" "" "" "" "DSG2(NM_001943.3):c.2506C>G (p.L836V), DSG2(NM_001943.5):c.2506C>G (p.L836V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855256" "0" "30" "18" "29126467" "29126467" "subst" "0.0000690787" "01943" "DSG2_000418" "g.29126467G>A" "" "" "" "DSG2(NM_001943.3):c.3118G>A (p.V1040I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855257" "0" "30" "18" "29126558" "29126558" "subst" "0.00180463" "02327" "DSG2_000076" "g.29126558C>T" "" "" "" "DSG2(NM_001943.3):c.3209C>T (p.T1070M), DSG2(NM_001943.5):c.3209C>T (p.T1070M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865644" "0" "90" "18" "29099821" "29099821" "subst" "0" "02330" "DSG2_000006" "g.29099821G>A" "" "" "" "DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865645" "0" "90" "18" "29099821" "29099821" "subst" "0" "01943" "DSG2_000006" "g.29099821G>A" "" "" "" "DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865646" "0" "50" "18" "29100818" "29100818" "subst" "0.00010167" "02330" "DSG2_000410" "g.29100818C>T" "" "" "" "DSG2(NM_001943.5):c.269C>T (p.T90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865647" "0" "30" "18" "29101073" "29101073" "subst" "0.0000284713" "02326" "DSG2_000211" "g.29101073C>T" "" "" "" "DSG2(NM_001943.3):c.390C>T (p.Y130=), DSG2(NM_001943.5):c.390C>T (p.Y130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865648" "0" "30" "18" "29122788" "29122788" "subst" "0" "01943" "DSG2_000416" "g.29122788A>G" "" "" "" "DSG2(NM_001943.3):c.2307A>G (p.E769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865649" "0" "50" "18" "29126442" "29126442" "dup" "0" "01804" "DSG2_000417" "g.29126442dup" "" "" "" "DSG2(NM_001943.3):c.3093dup (p.(Thr1032Tyrfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865650" "0" "50" "18" "29126615" "29126615" "subst" "0.0000162668" "02330" "DSG2_000419" "g.29126615G>T" "" "" "" "DSG2(NM_001943.5):c.3266G>T (p.G1089V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865651" "0" "30" "18" "29126653" "29126653" "subst" "0.00000406888" "01943" "DSG2_000362" "g.29126653A>G" "" "" "" "DSG2(NM_001943.3):c.3304A>G (p.T1102A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894470" "0" "30" "18" "29078254" "29078254" "subst" "0" "02327" "DSG2_000420" "g.29078254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894471" "0" "10" "18" "29078276" "29078276" "subst" "0" "02330" "DSG2_000396" "g.29078276G>A" "" "" "" "DSG2(NM_001943.3):c.45+17G>A, DSG2(NM_001943.5):c.45+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894472" "0" "30" "18" "29099805" "29099805" "subst" "0.000093445" "02325" "DSG2_000171" "g.29099805C>A" "" "" "" "DSG2(NM_001943.5):c.121C>A (p.H41N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894473" "0" "50" "18" "29101149" "29101149" "subst" "0.0000203307" "02326" "DSG2_000212" "g.29101149G>A" "" "" "" "DSG2(NM_001943.3):c.466G>A (p.E156K), DSG2(NM_001943.5):c.466G>A (p.E156K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894474" "0" "50" "18" "29102157" "29102157" "subst" "0" "02330" "DSG2_000421" "g.29102157A>C" "" "" "" "DSG2(NM_001943.5):c.635A>C (p.Y212S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894475" "0" "50" "18" "29104456" "29104456" "subst" "0" "02330" "DSG2_000422" "g.29104456G>C" "" "" "" "DSG2(NM_001943.5):c.736G>C (p.G246R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894476" "0" "50" "18" "29104748" "29104748" "subst" "0" "02330" "DSG2_000423" "g.29104748A>G" "" "" "" "DSG2(NM_001943.5):c.911A>G (p.D304G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894477" "0" "50" "18" "29104854" "29104854" "subst" "0" "02326" "DSG2_000424" "g.29104854A>G" "" "" "" "DSG2(NM_001943.3):c.1014+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894478" "0" "30" "18" "29111095" "29111095" "subst" "0" "02327" "DSG2_000425" "g.29111095A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894479" "0" "30" "18" "29111129" "29111129" "subst" "0.00000812876" "02327" "DSG2_000426" "g.29111129C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894480" "0" "50" "18" "29111167" "29111167" "subst" "0" "02330" "DSG2_000427" "g.29111167G>C" "" "" "" "DSG2(NM_001943.5):c.1232G>C (p.G411A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894481" "0" "10" "18" "29111233" "29111233" "subst" "0.0000572283" "02330" "DSG2_000428" "g.29111233G>C" "" "" "" "DSG2(NM_001943.5):c.1280+18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894482" "0" "30" "18" "29115255" "29115255" "subst" "0.000865428" "02326" "DSG2_000071" "g.29115255G>A" "" "" "" "DSG2(NM_001943.3):c.1303G>A (p.D435N), DSG2(NM_001943.5):c.1303G>A (p.D435N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894483" "0" "30" "18" "29115320" "29115320" "subst" "0" "02327" "DSG2_000429" "g.29115320A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894484" "0" "30" "18" "29115344" "29115344" "subst" "0.0000204073" "02327" "DSG2_000373" "g.29115344A>G" "" "" "" "DSG2(NM_001943.5):c.1392A>G (p.T464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894485" "0" "30" "18" "29116338" "29116338" "subst" "0.000296794" "02327" "DSG2_000240" "g.29116338G>A" "" "" "" "DSG2(NM_001943.3):c.1597G>A (p.V533I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894486" "0" "50" "18" "29116384" "29116384" "subst" "0.0000613653" "02330" "DSG2_000241" "g.29116384G>A" "" "" "" "DSG2(NM_001943.3):c.1643G>A (p.R548H), DSG2(NM_001943.5):c.1643G>A (p.R548H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894487" "0" "30" "18" "29118702" "29118702" "subst" "0" "02326" "DSG2_000430" "g.29118702C>G" "" "" "" "DSG2(NM_001943.3):c.1652-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894488" "0" "30" "18" "29118910" "29118910" "subst" "0.0000529575" "02327" "DSG2_000431" "g.29118910G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894489" "0" "30" "18" "29122591" "29122591" "subst" "0.0000121908" "02327" "DSG2_000075" "g.29122591A>G" "" "" "" "DSG2(NM_001943.3):c.2110A>G (p.I704V), DSG2(NM_001943.5):c.2110A>G (p.I704V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894490" "0" "30" "18" "29122756" "29122756" "subst" "0.0000209009" "02327" "DSG2_000432" "g.29122756G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894491" "0" "30" "18" "29125721" "29125721" "subst" "0.00000406339" "02327" "DSG2_000433" "g.29125721C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894492" "0" "50" "18" "29125840" "29125840" "subst" "0.0000244016" "02327" "DSG2_000081" "g.29125840C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894493" "0" "50" "18" "29126581" "29126581" "subst" "0" "02330" "DSG2_000434" "g.29126581G>A" "" "" "" "DSG2(NM_001943.5):c.3232G>A (p.G1078R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894494" "0" "30" "18" "29126630" "29126630" "subst" "0.00000406759" "02326" "DSG2_000435" "g.29126630G>A" "" "" "" "DSG2(NM_001943.3):c.3281G>A (p.G1094D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915033" "0" "30" "18" "29098253" "29098253" "subst" "0.000134131" "02326" "DSG2_000199" "g.29098253G>T" "" "" "" "DSG2(NM_001943.3):c.81+16G>T, DSG2(NM_001943.5):c.81+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915034" "0" "70" "18" "29099829" "29099829" "subst" "0.00000812579" "02325" "DSG2_000303" "g.29099829C>T" "" "" "" "DSG2(NM_001943.3):c.145C>T (p.R49C), DSG2(NM_001943.5):c.145C>T (p.R49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915035" "0" "50" "18" "29101153" "29101153" "subst" "0.0000203295" "02330" "DSG2_000104" "g.29101153C>T" "" "" "" "DSG2(NM_001943.5):c.470C>T (p.P157L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915036" "0" "10" "18" "29102122" "29102122" "subst" "0" "02330" "DSG2_000436" "g.29102122C>T" "" "" "" "DSG2(NM_001943.5):c.600C>T (p.I200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915037" "0" "50" "18" "29104436" "29104436" "subst" "0" "02326" "DSG2_000437" "g.29104436T>G" "" "" "" "DSG2(NM_001943.3):c.716T>G (p.V239G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915038" "0" "50" "18" "29104780" "29104780" "subst" "0" "02325" "DSG2_000438" "g.29104780G>C" "" "" "" "DSG2(NM_001943.5):c.943G>C (p.G315R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915039" "0" "50" "18" "29121280" "29121280" "subst" "0.00000813643" "02326" "DSG2_000257" "g.29121280C>G" "" "" "" "DSG2(NM_001943.3):c.2001+3C>G, DSG2(NM_001943.5):c.2001+3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926711" "0" "10" "18" "29078268" "29078268" "subst" "0.000080444" "02330" "DSG2_000439" "g.29078268C>G" "" "" "" "DSG2(NM_001943.5):c.45+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926712" "0" "50" "18" "29102102" "29102102" "subst" "0" "02330" "DSG2_000088" "g.29102102T>C" "" "" "" "DSG2(NM_001943.5):c.580T>C (p.S194P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926713" "0" "10" "18" "29104647" "29104648" "del" "0.0000692171" "02330" "DSG2_000440" "g.29104647_29104648del" "" "" "" "DSG2(NM_001943.5):c.829-19_829-18delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926714" "0" "50" "18" "29104712" "29104712" "subst" "0.0000812942" "02325" "DSG2_000118" "g.29104712G>A" "" "" "" "DSG2(NM_001943.3):c.875G>A (p.R292H), DSG2(NM_001943.5):c.875G>A (p.R292H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926715" "0" "10" "18" "29111232" "29111232" "subst" "0.00087439" "02330" "DSG2_000322" "g.29111232C>T" "" "" "" "DSG2(NM_001943.3):c.1280+17C>T, DSG2(NM_001943.5):c.1280+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926716" "0" "30" "18" "29118937" "29118937" "subst" "0.000367671" "02326" "DSG2_000042" "g.29118937G>C" "" "" "" "DSG2(NM_001943.3):c.1875G>C (p.L625=), DSG2(NM_001943.5):c.1875G>C (p.L625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926717" "0" "50" "18" "29121251" "29121251" "subst" "0" "02330" "DSG2_000441" "g.29121251A>G" "" "" "" "DSG2(NM_001943.5):c.1975A>G (p.N659D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926718" "0" "50" "18" "29125705" "29125705" "subst" "0.00000406507" "02330" "DSG2_000442" "g.29125705G>A" "" "" "" "DSG2(NM_001943.5):c.2356G>A (p.E786K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930941" "0" "10" "18" "29115255" "29115255" "subst" "0.000865428" "02330" "DSG2_000071" "g.29115255G>A" "" "" "" "DSG2(NM_001943.3):c.1303G>A (p.D435N), DSG2(NM_001943.5):c.1303G>A (p.D435N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930942" "0" "10" "18" "29116199" "29116199" "subst" "0.00000406527" "02330" "DSG2_000326" "g.29116199T>C" "" "" "" "DSG2(NM_001943.5):c.1458T>C (p.L486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930943" "0" "50" "18" "29122691" "29122691" "subst" "0" "02326" "DSG2_000443" "g.29122691G>A" "" "" "" "DSG2(NM_001943.3):c.2210G>A (p.G737D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930944" "0" "50" "18" "29125717" "29125717" "subst" "0.000292571" "02325" "DSG2_000085" "g.29125717C>T" "" "" "" "DSG2(NM_001943.5):c.2368C>T (p.H790Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930945" "0" "30" "18" "29126100" "29126100" "subst" "0.0000488393" "02326" "DSG2_000444" "g.29126100G>A" "" "" "" "DSG2(NM_001943.3):c.2751G>A (p.A917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DSG2 ## Count = 750 "{{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}}" "0000052372" "00006717" "50" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Thr1070Met)" "15" "" "0000052381" "00006717" "10" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "" "0000052382" "00006717" "10" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "5" "" "0000071831" "00006717" "70" "1370" "0" "1370" "0" "c.1370C>G" "r.(?)" "p.(Ser457Cys)" "" "" "0000095129" "00006717" "90" "1773" "0" "1774" "0" "c.1773_1774del" "r.(?)" "p.(Cys591*)" "12" "" "0000095131" "00006717" "90" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Trp437*)" "10" "" "0000095204" "00006717" "50" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ile704Val)" "14" "" "0000095231" "00006717" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "9" "" "0000095274" "00006717" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "9" "" "0000095290" "00006717" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "3" "" "0000095362" "00006717" "50" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "10" "" "0000095404" "00006717" "50" "121" "0" "121" "0" "c.121C>A" "r.(?)" "p.(His41Asn)" "3" "" "0000095542" "00006717" "50" "3109" "0" "3109" "0" "c.3109A>G" "r.(?)" "p.(Asn1037Asp)" "15" "" "0000095602" "00006717" "50" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Asn182Ser)" "6" "" "0000095627" "00006717" "50" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "5" "" "0000095719" "00006717" "50" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Ala917Val)" "15" "" "0000095792" "00006717" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "3" "" "0000096478" "00006717" "50" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "" "0000096517" "00006717" "50" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Arg146Leu)" "5" "" "0000217967" "00006717" "50" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "" "" "0000218373" "00006717" "50" "220" "0" "220" "0" "c.220C>A" "r.(?)" "p.(His74Asn)" "" "" "0000218399" "00006717" "50" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Val239Ala)" "" "" "0000218447" "00006717" "90" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Gly812Ser)" "" "" "0000218470" "00006717" "90" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Gln1114*)" "" "" "0000247488" "00006717" "10" "2505" "0" "2505" "0" "c.2505A>G" "r.(?)" "p.(Thr835=)" "" "" "0000247489" "00006717" "10" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ile293Val)" "" "" "0000247490" "00006717" "10" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Met863Leu)" "" "" "0000247492" "00006717" "10" "3135" "0" "3135" "0" "c.3135A>C" "r.(?)" "p.(Thr1045=)" "" "" "0000247493" "00006717" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Tyr89Cys)" "" "" "0000247500" "00006717" "10" "1914" "0" "1914" "0" "c.1914A>G" "r.(?)" "p.(Gly638=)" "" "" "0000247501" "00006717" "10" "2703" "0" "2703" "0" "c.2703A>G" "r.(?)" "p.(Lys901=)" "" "" "0000247502" "00006717" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Lys294Glu)" "" "" "0000247506" "00006717" "30" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(His74Arg)" "" "" "0000247507" "00006717" "10" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "" "" "0000247521" "00006717" "10" "864" "0" "864" "0" "c.864A>G" "r.(?)" "p.(Val288=)" "" "" "0000247522" "00006717" "10" "3027" "0" "3027" "0" "c.3027A>G" "r.(?)" "p.(Gln1009=)" "" "" "0000247544" "00006717" "50" "765" "0" "765" "0" "c.765A>T" "r.(?)" "p.(Gln255His)" "" "" "0000247545" "00006717" "50" "854" "0" "854" "0" "c.854A>C" "r.(?)" "p.(Gln285Pro)" "" "" "0000247546" "00006717" "50" "2192" "0" "2192" "0" "c.2192A>C" "r.(?)" "p.(Gln731Pro)" "" "" "0000247547" "00006717" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Tyr198Cys)" "" "" "0000247548" "00006717" "50" "1820" "0" "1820" "0" "c.1820A>G" "r.(?)" "p.(Tyr607Cys)" "" "" "0000247838" "00006717" "10" "2505" "0" "2505" "0" "c.2505A>G" "r.(?)" "p.(Thr835=)" "" "" "0000247839" "00006717" "10" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ile293Val)" "" "" "0000247873" "00006717" "30" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Met863Leu)" "" "" "0000248265" "00006717" "30" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(His74Arg)" "" "" "0000249410" "00006717" "30" "273" "0" "273" "0" "c.273A>G" "r.(?)" "p.(Gly91=)" "" "" "0000249411" "00006717" "30" "384" "0" "384" "0" "c.384A>C" "r.(?)" "p.(Thr128=)" "" "" "0000250620" "00006717" "10" "2505" "0" "2505" "0" "c.2505A>G" "r.(?)" "p.(Thr835=)" "" "" "0000250621" "00006717" "10" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ile293Val)" "" "" "0000250655" "00006717" "10" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Met863Leu)" "" "" "0000251711" "00006717" "30" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(His74Arg)" "" "" "0000251737" "00006717" "30" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "" "" "0000252702" "00006717" "50" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Ile73Val)" "" "" "0000252972" "00006717" "10" "2505" "0" "2505" "0" "c.2505A>G" "r.(?)" "p.(Thr835=)" "" "" "0000252973" "00006717" "10" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ile293Val)" "" "" "0000253007" "00006717" "10" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Met863Leu)" "" "" "0000253366" "00006717" "10" "3135" "0" "3135" "0" "c.3135A>C" "r.(?)" "p.(Thr1045=)" "" "" "0000253391" "00006717" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Tyr89Cys)" "" "" "0000254148" "00006717" "30" "1914" "0" "1914" "0" "c.1914A>G" "r.(?)" "p.(Gly638=)" "" "" "0000254149" "00006717" "30" "2703" "0" "2703" "0" "c.2703A>G" "r.(?)" "p.(Lys901=)" "" "" "0000254389" "00006717" "30" "2415" "0" "2415" "0" "c.2415A>G" "r.(?)" "p.(Glu805=)" "" "" "0000254467" "00006717" "30" "2162" "0" "2162" "0" "c.2162A>G" "r.(?)" "p.(His721Arg)" "" "" "0000255014" "00006717" "30" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Ser4Gly)" "" "" "0000255319" "00006717" "30" "81" "17" "81" "17" "c.81+17A>G" "r.(=)" "p.(=)" "" "" "0000255818" "00006717" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Lys294Glu)" "" "" "0000255930" "00006717" "50" "1649" "0" "1649" "0" "c.1649A>G" "r.(?)" "p.(Glu550Gly)" "" "" "0000256336" "00006717" "50" "2140" "0" "2140" "0" "c.2140A>G" "r.(?)" "p.(Met714Val)" "" "" "0000265496" "00006717" "50" "-5" "0" "-5" "0" "c.-5del" "r.(?)" "p.(=)" "" "" "0000265497" "00006717" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Thr335=)" "" "" "0000265499" "00006717" "70" "1143" "0" "1143" "0" "c.1143del" "r.(?)" "p.(Asn381LysfsTer2)" "" "" "0000265500" "00006717" "10" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "" "0000265501" "00006717" "30" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Ala50Thr)" "" "" "0000265502" "00006717" "10" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Val515Ile)" "" "" "0000265503" "00006717" "10" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Leu617=)" "" "" "0000265504" "00006717" "50" "1885" "0" "1885" "0" "c.1885C>A" "r.(?)" "p.(Pro629Thr)" "" "" "0000265505" "00006717" "50" "1886" "0" "1886" "0" "c.1886C>A" "r.(?)" "p.(Pro629Gln)" "" "" "0000265506" "00006717" "10" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Cys637=)" "" "" "0000265507" "00006717" "10" "2001" "3" "2001" "3" "c.2001+3C>G" "r.spl?" "p.?" "" "" "0000265508" "00006717" "10" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "" "" "0000265509" "00006717" "10" "216" "16" "216" "16" "c.216+16G>A" "r.(=)" "p.(=)" "" "" "0000265510" "00006717" "10" "217" "-5" "217" "-5" "c.217-5G>T" "r.spl?" "p.?" "" "" "0000265511" "00006717" "10" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(His74=)" "" "" "0000265512" "00006717" "10" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Lys)" "" "" "0000265513" "00006717" "10" "2335" "-8" "2335" "-8" "c.2335-8C>G" "r.(=)" "p.(=)" "" "" "0000265514" "00006717" "10" "2340" "0" "2340" "0" "c.2340G>T" "r.(?)" "p.(Ala780=)" "" "" "0000265515" "00006717" "50" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Gly812Ser)" "" "" "0000265516" "00006717" "10" "2484" "0" "2484" "0" "c.2484T>C" "r.(?)" "p.(Asp828=)" "" "" "0000265517" "00006717" "10" "2647" "0" "2647" "0" "c.2647T>C" "r.(?)" "p.(Ser883Pro)" "" "" "0000265518" "00006717" "10" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Thr903Ile)" "" "" "0000265519" "00006717" "10" "2906" "0" "2906" "0" "c.2906C>T" "r.(?)" "p.(Ala969Val)" "" "" "0000265520" "00006717" "10" "3082" "0" "3082" "0" "c.3082G>A" "r.(?)" "p.(Gly1028Ser)" "" "" "0000265521" "00006717" "10" "3225" "0" "3225" "0" "c.3225G>A" "r.(?)" "p.(Thr1075=)" "" "" "0000265522" "00006717" "10" "3243" "0" "3243" "0" "c.3243C>T" "r.(?)" "p.(Val1081=)" "" "" "0000265523" "00006717" "10" "3321" "0" "3321" "0" "c.3321T>C" "r.(?)" "p.(Val1107=)" "" "" "0000265524" "00006717" "10" "36" "0" "36" "0" "c.36G>A" "r.(?)" "p.(Leu12=)" "" "" "0000265525" "00006717" "90" "378" "1" "378" "1" "c.378+1G>T" "r.spl?" "p.?" "" "" "0000265526" "00006717" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Tyr130=)" "" "" "0000265527" "00006717" "30" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Arg146Leu)" "" "" "0000265528" "00006717" "30" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Leu15Gln)" "" "" "0000265529" "00006717" "10" "45" "16" "45" "16" "c.45+16G>C" "r.(=)" "p.(=)" "" "" "0000265530" "00006717" "10" "523" "22" "523" "24" "c.523+22_523+24del" "r.(=)" "p.(=)" "" "" "0000265531" "00006717" "10" "523" "24" "523" "24" "c.523+24del" "r.(=)" "p.(=)" "" "" "0000265533" "00006717" "10" "524" "-9" "524" "-9" "c.524-9T>A" "r.(=)" "p.(=)" "" "" "0000265534" "00006717" "10" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "" "0000265535" "00006717" "10" "783" "0" "783" "0" "c.783T>A" "r.(?)" "p.(Arg261=)" "" "" "0000265537" "00006717" "10" "828" "11" "828" "11" "c.828+11T>C" "r.(=)" "p.(=)" "" "" "0000265538" "00006717" "10" "828" "16" "828" "16" "c.828+16C>A" "r.(=)" "p.(=)" "" "" "0000265539" "00006717" "10" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(Asn284=)" "" "" "0000265540" "00006717" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Asn287=)" "" "" "0000265541" "00006717" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Val288Ile)" "" "" "0000265542" "00006717" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Asp297Asn)" "" "" "0000267554" "00006717" "30" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "" "0000267555" "00006717" "30" "1652" "-12" "1652" "-12" "c.1652-12C>T" "r.(=)" "p.(=)" "" "" "0000267556" "00006717" "30" "1866" "0" "1866" "0" "c.1866T>C" "r.(?)" "p.(Phe622=)" "" "" "0000267557" "00006717" "30" "1875" "0" "1875" "0" "c.1875G>C" "r.(?)" "p.(Leu625=)" "" "" "0000267558" "00006717" "50" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Arg)" "" "" "0000267559" "00006717" "50" "2063" "0" "2063" "0" "c.2063G>A" "r.(?)" "p.(Gly688Glu)" "" "" "0000267560" "00006717" "10" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "" "" "0000267561" "00006717" "30" "217" "-5" "217" "-5" "c.217-5G>T" "r.spl?" "p.?" "" "" "0000267562" "00006717" "50" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Thr736Ile)" "" "" "0000267563" "00006717" "30" "2211" "0" "2211" "0" "c.2211C>T" "r.(?)" "p.(Gly737=)" "" "" "0000267564" "00006717" "30" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(His74=)" "" "" "0000267565" "00006717" "10" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Lys)" "" "" "0000267566" "00006717" "30" "2484" "0" "2484" "0" "c.2484T>C" "r.(?)" "p.(Asp828=)" "" "" "0000267567" "00006717" "30" "2886" "0" "2886" "0" "c.2886T>G" "r.(?)" "p.(Ile962Met)" "" "" "0000267568" "00006717" "30" "3225" "0" "3225" "0" "c.3225G>A" "r.(?)" "p.(Thr1075=)" "" "" "0000267569" "00006717" "30" "3243" "0" "3243" "0" "c.3243C>T" "r.(?)" "p.(Val1081=)" "" "" "0000267570" "00006717" "50" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Gly1083Ser)" "" "" "0000267571" "00006717" "10" "3321" "0" "3321" "0" "c.3321T>C" "r.(?)" "p.(Val1107=)" "" "" "0000267572" "00006717" "30" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Tyr130=)" "" "" "0000267573" "00006717" "30" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Arg146Leu)" "" "" "0000267574" "00006717" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Glu156Lys)" "" "" "0000267575" "00006717" "50" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Pro205Leu)" "" "" "0000267576" "00006717" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "" "0000267577" "00006717" "10" "828" "16" "828" "16" "c.828+16C>A" "r.(=)" "p.(=)" "" "" "0000267578" "00006717" "30" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(Asn284=)" "" "" "0000267579" "00006717" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Asn287=)" "" "" "0000270917" "00006717" "70" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Ala358Thr)" "" "" "0000270918" "00006717" "10" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "" "0000270919" "00006717" "90" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "" "0000270920" "00006717" "10" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Val515Ile)" "" "" "0000270921" "00006717" "30" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "" "0000270922" "00006717" "50" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Gly598Ser)" "" "" "0000270923" "00006717" "50" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Ala613Thr)" "" "" "0000270924" "00006717" "30" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Ala616Val)" "" "" "0000270925" "00006717" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Leu617=)" "" "" "0000270926" "00006717" "50" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Arg)" "" "" "0000270927" "00006717" "10" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "" "" "0000270928" "00006717" "10" "217" "-5" "217" "-5" "c.217-5G>T" "r.spl?" "p.?" "" "" "0000270929" "00006717" "30" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(His74=)" "" "" "0000270930" "00006717" "50" "2300" "0" "2300" "0" "c.2300T>G" "r.(?)" "p.(Leu767Arg)" "" "" "0000270931" "00006717" "10" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Lys)" "" "" "0000270932" "00006717" "30" "2340" "0" "2340" "0" "c.2340G>A" "r.(?)" "p.(Ala780=)" "" "" "0000270933" "00006717" "30" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Thr881=)" "" "" "0000270934" "00006717" "10" "2647" "0" "2647" "0" "c.2647T>C" "r.(?)" "p.(Ser883Pro)" "" "" "0000270935" "00006717" "10" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Thr903Ile)" "" "" "0000270936" "00006717" "10" "2906" "0" "2906" "0" "c.2906C>T" "r.(?)" "p.(Ala969Val)" "" "" "0000270937" "00006717" "30" "2995" "0" "2995" "0" "c.2995T>C" "r.(?)" "p.(Ser999Pro)" "" "" "0000270938" "00006717" "10" "3243" "0" "3243" "0" "c.3243C>T" "r.(?)" "p.(Val1081=)" "" "" "0000270939" "00006717" "10" "3321" "0" "3321" "0" "c.3321T>C" "r.(?)" "p.(Val1107=)" "" "" "0000270940" "00006717" "90" "378" "2" "378" "2" "c.378+2T>G" "r.spl?" "p.?" "" "" "0000270941" "00006717" "30" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Arg146Leu)" "" "" "0000270942" "00006717" "30" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Leu15Gln)" "" "" "0000270943" "00006717" "30" "45" "10" "45" "10" "c.45+10G>T" "r.(=)" "p.(=)" "" "" "0000270944" "00006717" "10" "523" "24" "523" "24" "c.523+24del" "r.(=)" "p.(=)" "" "" "0000270945" "00006717" "10" "524" "-9" "524" "-9" "c.524-9T>A" "r.(=)" "p.(=)" "" "" "0000270946" "00006717" "10" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "" "0000270947" "00006717" "10" "783" "0" "783" "0" "c.783T>A" "r.(?)" "p.(Arg261=)" "" "" "0000270948" "00006717" "70" "82" "-1" "82" "-1" "c.82-1G>T" "r.spl?" "p.?" "" "" "0000270949" "00006717" "10" "828" "16" "828" "16" "c.828+16C>A" "r.(=)" "p.(=)" "" "" "0000270950" "00006717" "30" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(Asn284=)" "" "" "0000270951" "00006717" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Asn287=)" "" "" "0000270952" "00006717" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "" "" "0000275560" "00006717" "50" "-6" "0" "-6" "0" "c.-6G>A" "r.(?)" "p.(=)" "" "" "0000275561" "00006717" "30" "1119" "0" "1119" "0" "c.1119T>C" "r.(?)" "p.(Ile373=)" "" "" "0000275562" "00006717" "30" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "" "0000275563" "00006717" "50" "1496" "0" "1496" "0" "c.1496T>C" "r.(?)" "p.(Leu499Pro)" "" "" "0000275564" "00006717" "10" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Val515Ile)" "" "" "0000275565" "00006717" "30" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Val533Ile)" "" "" "0000275566" "00006717" "10" "1652" "-15" "1652" "-15" "c.1652-15C>T" "r.(=)" "p.(=)" "" "" "0000275567" "00006717" "30" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Leu594Pro)" "" "" "0000275568" "00006717" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Leu617=)" "" "" "0000275569" "00006717" "30" "1875" "0" "1875" "0" "c.1875G>C" "r.(?)" "p.(Leu625=)" "" "" "0000275570" "00006717" "30" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Cys637=)" "" "" "0000275571" "00006717" "10" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "" "" "0000275572" "00006717" "10" "217" "-5" "217" "-5" "c.217-5G>T" "r.spl?" "p.?" "" "" "0000275573" "00006717" "30" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(His74=)" "" "" "0000275574" "00006717" "50" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Glu769Lys)" "" "" "0000275575" "00006717" "10" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Lys)" "" "" "0000275576" "00006717" "50" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Gly812Ser)" "" "" "0000275577" "00006717" "30" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Thr881=)" "" "" "0000275578" "00006717" "10" "2647" "0" "2647" "0" "c.2647T>C" "r.(?)" "p.(Ser883Pro)" "" "" "0000275579" "00006717" "10" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Thr903Ile)" "" "" "0000275580" "00006717" "30" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Ala917Val)" "" "" "0000275581" "00006717" "30" "2880" "0" "2880" "0" "c.2880C>A" "r.(?)" "p.(Ser960Arg)" "" "" "0000275582" "00006717" "30" "3082" "0" "3082" "0" "c.3082G>A" "r.(?)" "p.(Gly1028Ser)" "" "" "0000275583" "00006717" "10" "3243" "0" "3243" "0" "c.3243C>T" "r.(?)" "p.(Val1081=)" "" "" "0000275584" "00006717" "10" "3321" "0" "3321" "0" "c.3321T>C" "r.(?)" "p.(Val1107=)" "" "" "0000275585" "00006717" "30" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Tyr130=)" "" "" "0000275586" "00006717" "30" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Arg146Leu)" "" "" "0000275587" "00006717" "10" "45" "16" "45" "16" "c.45+16G>C" "r.(=)" "p.(=)" "" "" "0000275588" "00006717" "10" "523" "24" "523" "24" "c.523+24del" "r.(=)" "p.(=)" "" "" "0000275589" "00006717" "10" "524" "-9" "524" "-9" "c.524-9T>A" "r.(=)" "p.(=)" "" "" "0000275590" "00006717" "30" "81" "16" "81" "16" "c.81+16G>T" "r.(=)" "p.(=)" "" "" "0000275591" "00006717" "10" "828" "16" "828" "16" "c.828+16C>A" "r.(=)" "p.(=)" "" "" "0000275592" "00006717" "30" "829" "-15" "829" "-15" "c.829-15G>C" "r.(=)" "p.(=)" "" "" "0000275593" "00006717" "30" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(Asn284=)" "" "" "0000275594" "00006717" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Asn287=)" "" "" "0000325864" "00006717" "30" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Leu15Gln)" "" "" "0000391984" "00006717" "30" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Val920Gly)" "" "" "0000441322" "00006717" "11" "217" "-65" "217" "-65" "c.217-65C>G" "r.(?)" "p.(=)" "3i" "" "0000441323" "00006717" "11" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Tyr89Cys)" "4" "Cadherin 1" "0000441324" "00006717" "11" "523" "24" "523" "24" "c.523+24T>A" "r.(?)" "p.(=)" "5i" "" "0000441325" "00006717" "11" "690" "62" "690" "66" "c.690+62_690+66del" "r.(?)" "p.(=)" "6i" "" "0000441326" "00006717" "11" "691" "-83" "691" "-83" "c.691-83C>T" "r.(?)" "p.(=)" "6i" "" "0000441327" "00006717" "11" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Val515Ile)" "11" "Extracellular anchor" "0000441328" "00006717" "11" "1875" "0" "1875" "0" "c.1875G>C" "r.(?)" "p.(=)" "12" "" "0000441329" "00006717" "11" "2334" "32" "2334" "32" "c.2334+32G>A" "r.(?)" "p.(=)" "14i" "" "0000441330" "00006717" "11" "2334" "93" "2334" "93" "c.2334+93A>C" "r.(?)" "p.(=)" "14i" "" "0000441331" "00006717" "11" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Met863Leu)" "15" "" "0000441332" "00006717" "11" "2647" "0" "2647" "0" "c.2647T>C" "r.(?)" "p.(Ser883Pro)" "15" "Desmoglein repeat 1" "0000441333" "00006717" "11" "2706" "0" "2706" "0" "c.2706C>T" "r.(?)" "p.(Thr903Ile)" "15" "Desmoglein repeat 1" "0000441334" "00006717" "11" "3135" "0" "3135" "0" "c.3135A>C" "r.(?)" "p.(=)" "15" "Desmoglein repeat 6" "0000441335" "00006717" "11" "3153" "0" "3153" "0" "c.3153C>T" "r.(?)" "p.(=)" "15" "Desmoglein repeat 6" "0000441336" "00006717" "11" "3243" "0" "3243" "0" "c.3243C>T" "r.(?)" "p.(=)" "15" "C-terminus" "0000441337" "00006717" "15" "3293" "0" "3293" "0" "c.3293C>T" "r.(?)" "p.(Ser1098Phe)" "15" "C-terminus" "0000441338" "00006717" "15" "3314" "0" "3314" "0" "c.3314C>T" "r.(?)" "p.(Thr1105Ile)" "15" "C-terminus" "0000441339" "00006717" "11" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(=)" "8" "Cadherin 3" "0000441573" "00006717" "15" "-51" "0" "-51" "0" "c.-51G>C" "r.(?)" "p.(=)" "1" "" "0000441574" "00006717" "15" "-36" "0" "-36" "0" "c.-36G>C" "r.(?)" "p.(=)" "1" "" "0000441575" "00006717" "11" "81" "86" "81" "86" "c.81+86G>A" "r.(?)" "p.(=)" "2i" "" "0000441576" "00006717" "99" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.0" "1" "" "0000441577" "00006717" "55" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Leu15Gln)" "1" "Signal peptide" "0000441578" "00006717" "97" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "3" "propeptide" "0000441579" "00006717" "97" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "3" "propeptide" "0000441580" "00006717" "97" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "3" "propeptide" "0000441581" "00006717" "99" "918" "0" "918" "0" "c.918G>A" "r.(?)" "p.(Trp306*)" "8" "Cadherin 3" "0000441582" "00006717" "97" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "3" "propeptide" "0000441583" "00006717" "55" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "3" "Cadherin 1" "0000441584" "00006717" "55" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "3" "Cadherin 1" "0000441585" "00006717" "55" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "3" "Cadherin 1" "0000441586" "00006717" "95" "217" "0" "217" "0" "c.217A>G" "r.(?)" "p.(Ile73Val)" "4" "Cadherin 1" "0000441587" "00006717" "75" "260" "0" "260" "0" "c.260A>G" "r.(?)" "p.(Tyr87Cys)" "4" "Cadherin 1" "0000441588" "00006717" "75" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Gly100Arg)" "4" "Cadherin 1" "0000441589" "00006717" "97" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Gly100Arg)" "4" "Cadherin 1" "0000441590" "00006717" "95" "445" "0" "445" "0" "c.445G>T" "r.(?)" "p.(Val149Phe)" "5" "Cadherin 1" "0000441591" "00006717" "95" "462" "0" "462" "0" "c.462C>A" "r.(?)" "p.(Asp154Glu)" "5" "Cadherin 1" "0000441592" "00006717" "13" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "5" "Cadherin 1" "0000441593" "00006717" "13" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "5" "Cadherin 1" "0000441594" "00006717" "13" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "5" "Cadherin 1" "0000441595" "00006717" "11" "524" "-9" "524" "-9" "c.524-9T>A" "r.(?)" "p.(=)" "5i" "" "0000441596" "00006717" "95" "614" "0" "614" "0" "c.614C>T" "r.(?)" "p.(Pro205Leu)" "6" "Cadherin 2" "0000441597" "00006717" "55" "3247" "0" "3247" "0" "c.3247G>A" "r.(?)" "p.(Gly1083Ser)" "15" "C-terminus" "0000441598" "00006717" "99" "797" "0" "797" "0" "c.797A>G" "r.(?)" "p.(Asn266Ser)" "7" "" "0000441599" "00006717" "11" "828" "16" "828" "16" "c.828+16C>A" "r.(?)" "p.(=)" "7i" "" "0000441600" "00006717" "99" "829" "0" "840" "0" "c.829_840del" "r.(?)" "p.(Leu277_Met280del)" "8" "Cadherin 3" "0000441601" "00006717" "11" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(=)" "8" "Cadherin 3" "0000441602" "00006717" "75" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Lys294Glu)" "8" "Cadherin 3" "0000441603" "00006717" "11" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ile293Val)" "8" "Cadherin 3" "0000441604" "00006717" "95" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Asp297Asn)" "8" "Cadherin 3" "0000441605" "00006717" "95" "988" "0" "988" "0" "c.988A>G" "r.(?)" "p.(Asn330Asp)" "8" "Cadherin 3" "0000441606" "00006717" "75" "991" "0" "991" "0" "c.991G>A" "r.(?)" "p.(Glu331Lys)" "8" "Cadherin 3" "0000441607" "00006717" "99" "1881" "-2" "1881" "-2" "c.1881-2A>G" "r.spl" "p.?" "12i" "" "0000441608" "00006717" "11" "1014" "27" "1014" "27" "c.1014+27G>A" "r.(?)" "p.(=)" "8i" "" "0000441609" "00006717" "95" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "9" "Cadherin 4" "0000441610" "00006717" "55" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "9" "Cadherin 4" "0000441611" "00006717" "99" "1250" "0" "1253" "0" "c.1250_1253dup" "r.(?)" "p.(Asp419Ter)" "9" "Cadherin 4" "0000441612" "00006717" "99" "1250" "0" "1253" "0" "c.1250_1253dup" "r.(?)" "p.(Asp419Ter)" "9" "Cadherin 4" "0000441613" "00006717" "99" "1423" "1" "1423" "1" "c.1423+1G>T" "r.spl" "p.?" "10i" "Cadherin 4" "0000441614" "00006717" "97" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Cys507Tyr)" "11" "Extracellular anchor" "0000441615" "00006717" "97" "1592" "0" "1592" "0" "c.1592T>G" "r.(?)" "p.(Phe531Cys)" "11" "Extracellular anchor" "0000441616" "00006717" "11" "1651" "70" "1651" "70" "c.1651+70T>C" "r.(?)" "p.(=)" "11i" "" "0000441617" "00006717" "99" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Gln558*)" "12" "Extracellular anchor" "0000441618" "00006717" "99" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Gln558*)" "12" "Extracellular anchor" "0000441619" "00006717" "99" "1773" "0" "1774" "0" "c.1773_1774del" "r.(?)" "p.(Cys591*)" "12" "Extracellular anchor" "0000441620" "00006717" "99" "1773" "0" "1774" "0" "c.1773_1774del" "r.(?)" "p.(Cys591*)" "12" "Extracellular anchor" "0000441621" "00006717" "99" "2036" "0" "2036" "0" "c.2036del" "r.(?)" "p.(Gly679Alafs*4)" "14" "Intracellular anchor" "0000441622" "00006717" "11" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "14" "Intracellular cadherin segment" "0000441623" "00006717" "91" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "14" "Intracellular cadherin segment" "0000441624" "00006717" "71" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "14" "Intracellular cadherin segment" "0000441625" "00006717" "11" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "14" "Intracellular cadherin segment" "0000441626" "00006717" "11" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Lys)" "14" "Intracellular cadherin segment" "0000441627" "00006717" "97" "2434" "0" "2434" "0" "c.2434G>T" "r.(?)" "p.(Gly812Cys)" "15" "Intracellular cadherin segment" "0000441628" "00006717" "11" "2505" "0" "2505" "0" "c.2505A>G" "r.(?)" "p.(=)" "15" "" "0000441629" "00006717" "55" "2693" "0" "2693" "0" "c.2693A>C" "r.(?)" "p.(Asn898Thr)" "15" "Desmoglein repeat 1" "0000441630" "00006717" "91" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Val920Gly)" "15" "Desmoglein repeat 2" "0000441631" "00006717" "11" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Val920Gly)" "15" "Desmoglein repeat 2" "0000441632" "00006717" "55" "3199" "0" "3199" "0" "c.3199A>G" "r.(?)" "p.(Asn1067Asp)" "15" "C-terminus" "0000441633" "00006717" "11" "3321" "0" "3321" "0" "c.3321T>C" "r.(?)" "p.(=)" "15" "C-terminus" "0000441634" "00006717" "11" "45" "33" "45" "33" "c.45+33G>T" "r.(?)" "p.(=)" "1i" "" "0000441635" "00006717" "11" "46" "-36" "46" "-36" "c.46-36T>C" "r.(?)" "p.(=)" "1i" "" "0000441636" "00006717" "11" "217" "-89" "217" "-89" "c.217-89G>C" "r.(?)" "p.(=)" "3i" "" "0000441637" "00006717" "99" "378" "2" "378" "2" "c.378+2T>G" "r.spl" "p.?" "4i" "" "0000441638" "00006717" "11" "379" "-52" "379" "-52" "c.379-52G>A" "r.(?)" "p.(=)" "4i" "" "0000441639" "00006717" "11" "524" "-48" "524" "-48" "c.524-48A>G" "r.(?)" "p.(=)" "5i" "" "0000441640" "00006717" "55" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "Cadherin 3" "0000441641" "00006717" "55" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Asp435Asn)" "10" "Cadherin 4" "0000441642" "00006717" "55" "1474" "0" "1474" "0" "c.1474A>G" "r.(?)" "p.(Ile492val)" "11" "Cadherin 4" "0000441643" "00006717" "55" "1503" "0" "1503" "0" "c.1503G>T" "r.(?)" "p.(Glu501Asp)" "11" "Cadherin 4" "0000441644" "00006717" "11" "1880" "-40" "1880" "-40" "c.1880-40A>G" "r.(?)" "p.(=)" "12i" "" "0000441645" "00006717" "55" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ile704Val)" "14" "" "0000441646" "00006717" "55" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Thr1070Met)" "15" "C-terminus" "0000441647" "00006717" "99" "1773" "0" "1774" "0" "c.1773_1774del" "r.(?)" "p.(Cys591*)" "12" "Extracellular anchor" "0000441648" "00006717" "99" "829" "0" "840" "0" "c.829_840del" "r.(?)" "p.(Leu277_Met280del)" "8" "Cadherin 3" "0000441649" "00006717" "55" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "3" "Cadherin 1" "0000441650" "00006717" "75" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "5" "Cadherin 1" "0000441651" "00006717" "75" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Glu230Gly)" "6" "Cadherin 2" "0000441652" "00006717" "75" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.(Asp297Gly)" "8" "Cadherin 3" "0000441653" "00006717" "75" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Arg)" "13" "" "0000441654" "00006717" "55" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Leu831Phe)" "15" "" "0000441655" "00006717" "75" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Pro925Ser)" "15" "Desmoglein repeat 2" "0000441656" "00006717" "99" "2990" "0" "2990" "0" "c.2990del" "r.(?)" "p.(Gly997Valfs*20)" "15" "Desmoglein repeat 5" "0000441657" "00006717" "99" "829" "0" "836" "0" "c.829_836del" "r.(?)" "p.(Leu277AspfsTer3)" "7i_8" "Cadherin 3" "0000441658" "00006717" "95" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "Cadherin 3" "0000441659" "00006717" "11" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(His790Tyr)" "15" "Intracellular cadherin segment" "0000441660" "00006717" "11" "2648" "0" "2648" "0" "c.2648C>T" "r.(?)" "p.(Ser883Phe)" "15" "Desmoglein repeat 1" "0000441661" "00006717" "11" "3293" "0" "3293" "0" "c.3293C>G" "r.(?)" "p.(Ser1098Cys)" "15" "C-terminus" "0000441662" "00006717" "55" "580" "0" "580" "0" "c.580T>C" "r.(?)" "p.(Ser194Pro)" "6" "Cadherin 2" "0000441663" "00006717" "55" "1480" "0" "1480" "0" "c.1480G>A" "r.(?)" "p.(Asp494Asn)" "11" "Cadherin 4" "0000441664" "00006717" "95" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "3" "propeptide" "0000441665" "00006717" "95" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Asp187Gly)" "6" "Cadherin 2" "0000441666" "00006717" "95" "961" "0" "961" "0" "c.961T>A" "r.(?)" "p.(Phe321Ile)" "8" "Cadherin 3" "0000441667" "00006717" "95" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(=)" "3" "" "0000441668" "00006717" "95" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "3" "" "0000441669" "00006717" "95" "3058" "-3062" "3058" "-3062" "c.3058-3062del" "r.(?)" "p.(Glu1020Alafs*18)" "15" "" "0000441670" "00006717" "75" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "" "0000441671" "00006717" "75" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "" "0000441672" "00006717" "75" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "" "0000441673" "00006717" "75" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "8" "" "0000441674" "00006717" "95" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "3" "" "0000441675" "00006717" "95" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "3" "" "0000441676" "00006717" "55" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "1" "" "0000441677" "00006717" "55" "57" "0" "57" "0" "c.57C>T" "r.(?)" "p.(Asn19=)" "2" "" "0000441678" "00006717" "55" "105" "0" "105" "0" "c.105T>A" "r.(?)" "p.(Asn35Lys)" "3" "" "0000441679" "00006717" "55" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "3" "" "0000441680" "00006717" "55" "182" "0" "182" "0" "c.182del" "r.(?)" "p.(Gly61Glufs*51)" "3" "" "0000441681" "00006717" "55" "208" "0" "208" "0" "c.208A>G" "r.(?)" "p.(Ile70Val)" "3" "" "0000441682" "00006717" "55" "216" "2" "216" "2" "c.216+2T>C" "r.spl" "p.?" "3i" "" "0000441683" "00006717" "55" "221" "0" "221" "0" "c.221A>G" "r.(?)" "p.(His74Arg)" "4" "" "0000441684" "00006717" "55" "254" "0" "254" "0" "c.254T>A" "r.(?)" "p.(Ile85Asn)" "4" "" "0000441685" "00006717" "55" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Arg146Leu)" "5" "" "0000441686" "00006717" "55" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Pro157Leu)" "5" "" "0000441687" "00006717" "55" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Val158=)" "5" "" "0000441688" "00006717" "55" "484" "0" "484" "0" "c.484del" "r.(?)" "p.(Asp162Metfs*10)" "5" "" "0000441689" "00006717" "55" "523" "2" "523" "2" "c.523+2T>C" "r.spl" "p.?" "5i" "" "0000441690" "00006717" "55" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Asn182Ser)" "6" "" "0000441691" "00006717" "55" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Ser194Leu)" "6" "" "0000441692" "00006717" "55" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Tyr198Cys)" "6" "" "0000441693" "00006717" "55" "685" "0" "685" "0" "c.685A>G" "r.(?)" "p.(Arg229Gly)" "6" "" "0000441694" "00006717" "55" "690" "1" "690" "1" "c.690+1G>A" "r.spl" "p.?" "6i" "" "0000441695" "00006717" "55" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Val239Ala)" "7" "" "0000441696" "00006717" "55" "783" "0" "783" "0" "c.783T>A" "r.(?)" "p.(Arg261=)" "7" "" "0000441697" "00006717" "55" "792" "0" "792" "0" "c.792T>A" "r.(?)" "p.(Asp264Glu)" "7" "" "0000441698" "00006717" "55" "806" "0" "806" "0" "c.806T>C" "r.(?)" "p.(Ile269Thr)" "7" "" "0000441699" "00006717" "55" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "8" "" "0000441700" "00006717" "55" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Arg292His)" "8" "" "0000441701" "00006717" "55" "882" "0" "882" "0" "c.882dup" "r.(?)" "p.(Val295Serfs*6)" "8" "" "0000441702" "00006717" "55" "977" "0" "977" "0" "c.977A>T" "r.(?)" "p.(Asn326Val)" "8" "" "0000441703" "00006717" "55" "998" "0" "998" "0" "c.998T>C" "r.(?)" "p.(Ile333Thr)" "8" "" "0000441704" "00006717" "55" "1015" "-7" "1015" "-7" "c.1015-7C>G" "r.(?)" "p.(=)" "8i" "" "0000441705" "00006717" "55" "1038" "0" "1040" "0" "c.1038_1040del" "r.(?)" "p.(Lys346del)" "9" "" "0000441706" "00006717" "55" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ser351Gly)" "9" "" "0000441707" "00006717" "55" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Ala358Thr)" "9" "" "0000441708" "00006717" "55" "1163" "0" "1163" "0" "c.1163T>G" "r.(?)" "p.(Phe388Cys)" "9" "" "0000441709" "00006717" "55" "1168" "0" "1168" "0" "c.1168dup" "r.(?)" "p.(Ser390Lysfs*9)" "9" "" "0000441710" "00006717" "55" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Ser445Phe)" "10" "" "0000441711" "00006717" "55" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Gln461*)" "10" "" "0000441712" "00006717" "55" "1423" "2" "1423" "6" "c.1423+2_1423+6delins(17)" "r.spl" "p.?" "10i" "" "0000441713" "00006717" "55" "1652" "-12" "1652" "-12" "c.1652-12C>T" "r.(?)" "p.(=)" "10i" "" "0000441714" "00006717" "55" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Thr480Ile)" "11" "" "0000441715" "00006717" "55" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Asn493Ser)" "11" "" "0000441716" "00006717" "55" "1481" "0" "1481" "0" "c.1481A>C" "r.(?)" "p.(Asp494Ala)" "11" "" "0000441717" "00006717" "55" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Ala517Val)" "11" "" "0000441718" "00006717" "55" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Leu594Pro)" "12" "" "0000441719" "00006717" "55" "1814" "0" "1814" "0" "c.1814A>T" "r.(?)" "p.(Asp605Val)" "12" "" "0000441720" "00006717" "55" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Ala613Thr)" "12" "" "0000441721" "00006717" "55" "1847" "0" "1847" "0" "c.1847C>T" "r.(?)" "p.(Ala616Val)" "12" "" "0000441722" "00006717" "55" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Cys637=)" "13" "" "0000441723" "00006717" "55" "1914" "0" "1914" "0" "c.1914A>G" "r.(?)" "p.(Gly638Gly)" "13" "" "0000441724" "00006717" "55" "1919" "0" "1932" "0" "c.1919_1932del" "r.(?)" "p.(Gly640Aspfs*15)" "13" "" "0000441725" "00006717" "55" "2033" "0" "2033" "0" "c.2033G>C" "r.(?)" "p.(Gly678Ala)" "14" "" "0000441726" "00006717" "55" "2036" "0" "2036" "0" "c.2036G>T" "r.(?)" "p.(Gly679Val)" "14" "" "0000441727" "00006717" "55" "2192" "0" "2192" "0" "c.2192A>C" "r.(?)" "p.(Gln731Pro)" "14" "" "0000441728" "00006717" "55" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Phe732Val)" "14" "" "0000441729" "00006717" "55" "2340" "0" "2340" "0" "c.2340G>A" "r.(?)" "p.(Ala780=)" "15" "" "0000441730" "00006717" "55" "2349" "0" "2349" "0" "c.2349C>A" "r.(?)" "p.(Tyr783*)" "15" "" "0000441731" "00006717" "55" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Gly812Ser)" "15" "" "0000441732" "00006717" "55" "2437" "0" "2437" "0" "c.2437T>C" "r.(?)" "p.(Cys813Arg)" "15" "" "0000441733" "00006717" "55" "2470" "0" "2470" "0" "c.2470C>T" "r.(?)" "p.(Arg824Cys)" "15" "" "0000441734" "00006717" "55" "2497" "0" "2497" "0" "c.2497T>A" "r.(?)" "p.(Phe833Ile)" "15" "" "0000441735" "00006717" "55" "2568" "0" "2568" "0" "c.2568A>C" "r.(?)" "p.(Lys856Asn)" "15" "" "0000441736" "00006717" "55" "2623" "0" "2623" "0" "c.2623A>G" "r.(?)" "p.(Met875Val)" "15" "" "0000441737" "00006717" "55" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Ala917Val)" "15" "" "0000441738" "00006717" "55" "2780" "0" "2780" "0" "c.2780C>T" "r.(?)" "p.(Pro927Leu)" "15" "" "0000441739" "00006717" "55" "2797" "0" "2797" "0" "c.2797G>A" "r.(?)" "p.(Val933Met)" "15" "" "0000441740" "00006717" "55" "2800" "0" "2800" "0" "c.2800A>G" "r.(?)" "p.(Ile934Val)" "15" "" "0000441741" "00006717" "55" "2878" "0" "2878" "0" "c.2878A>C" "r.(?)" "p.(Ser960Arg)" "15" "" "0000441742" "00006717" "55" "2886" "0" "2886" "0" "c.2886T>G" "r.(?)" "p.(Ile962Met)" "15" "" "0000441743" "00006717" "55" "3040" "0" "3040" "0" "c.3040G>A" "r.(?)" "p.(Val1014Ile)" "15" "" "0000441744" "00006717" "55" "3045" "0" "3045" "0" "c.3045G>H" "r.(?)" "p.(Met1015Ile)" "15" "" "0000441745" "00006717" "55" "3059" "0" "3062" "0" "c.3059_3062del" "r.(?)" "p.(Glu1020Alafs*18)" "15" "" "0000441746" "00006717" "55" "3061" "0" "3062" "0" "c.3061_3062del" "r.(?)" "p.(S1021Lfs*16)" "15" "" "0000441747" "00006717" "55" "3133" "0" "3133" "0" "c.3133T>C" "r.(?)" "p.(Ile1038Thr)" "15" "" "0000441748" "00006717" "55" "3140" "0" "3140" "0" "c.3140C>G" "r.(?)" "p.(Tyr1047Arg)" "15" "" "0000441749" "00006717" "55" "3167" "0" "3167" "0" "c.3167C>T" "r.(?)" "p.(Thr1056Ile)" "15" "" "0000441750" "00006717" "55" "3295" "0" "3295" "0" "c.3295A>G" "r.(?)" "p.(Thr1099Ala)" "15" "" "0000441751" "00006717" "55" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "3" "propeptide" "0000441752" "00006717" "95" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "9" "Cadherin 4" "0000441753" "00006717" "55" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "9" "Cadherin 4" "0000441754" "00006717" "10" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "5" "" "0000442451" "00006717" "90" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "" "0000442457" "00006717" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "" "0000442472" "00006717" "50" "1003" "0" "1003" "0" "c.1003A>G" "r.(?)" "p.(Thr335Ala)" "" "" "0000455455" "00006717" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "" "0000564436" "00006717" "30" "-55" "0" "-55" "0" "c.-55G>C" "r.(?)" "p.(=)" "" "" "0000564437" "00006717" "10" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "" "0000564438" "00006717" "30" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(Pro5Ala)" "" "" "0000564439" "00006717" "30" "18" "0" "18" "0" "c.18A>T" "r.(?)" "p.(Gly6=)" "" "" "0000564440" "00006717" "30" "44" "0" "44" "0" "c.44T>A" "r.(?)" "p.(Leu15Gln)" "" "" "0000564441" "00006717" "30" "45" "36" "45" "36" "c.45+36G>A" "r.(=)" "p.(=)" "" "" "0000564442" "00006717" "50" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(His25Tyr)" "" "" "0000564443" "00006717" "50" "81" "16" "81" "16" "c.81+16G>T" "r.(=)" "p.(=)" "" "" "0000564444" "00006717" "10" "81" "17" "81" "17" "c.81+17A>G" "r.(=)" "p.(=)" "" "" "0000564445" "00006717" "10" "81" "86" "81" "86" "c.81+86G>A" "r.(=)" "p.(=)" "" "" "0000564446" "00006717" "10" "81" "108" "81" "108" "c.81+108C>T" "r.(=)" "p.(=)" "" "" "0000564447" "00006717" "30" "82" "-17" "82" "-17" "c.82-17A>G" "r.(=)" "p.(=)" "" "" "0000564448" "00006717" "30" "82" "-10" "82" "-10" "c.82-10A>G" "r.(=)" "p.(=)" "" "" "0000564449" "00006717" "90" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "" "0000564450" "00006717" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "" "" "0000564451" "00006717" "30" "148" "0" "148" "0" "c.148G>A" "r.(?)" "p.(Ala50Thr)" "" "" "0000564452" "00006717" "10" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "" "0000564453" "00006717" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "" "0000564454" "00006717" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "" "0000564455" "00006717" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "" "0000564456" "00006717" "10" "222" "0" "222" "0" "c.222T>C" "r.(?)" "p.(His74=)" "" "" "0000564457" "00006717" "10" "266" "0" "266" "0" "c.266A>G" "r.(?)" "p.(Tyr89Cys)" "" "" "0000564458" "00006717" "30" "273" "0" "273" "0" "c.273A>G" "r.(?)" "p.(Gly91=)" "" "" "0000564459" "00006717" "10" "379" "-52" "379" "-52" "c.379-52G>A" "r.(=)" "p.(=)" "" "" "0000564460" "00006717" "50" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(Asp133Gly)" "" "" "0000564461" "00006717" "50" "403" "0" "403" "0" "c.403A>G" "r.(?)" "p.(Arg135Gly)" "" "" "0000564462" "00006717" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Glu144Lys)" "" "" "0000564463" "00006717" "30" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Glu144Lys)" "" "" "0000564464" "00006717" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Glu144Lys)" "" "" "0000564465" "00006717" "30" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "" "0000564466" "00006717" "30" "437" "0" "437" "0" "c.437G>T" "r.(?)" "p.(Arg146Leu)" "" "" "0000564467" "00006717" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Ile)" "" "" "0000564468" "00006717" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Ile)" "" "" "0000564469" "00006717" "10" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "" "0000564470" "00006717" "10" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "" "0000564472" "00006717" "30" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "" "0000564473" "00006717" "10" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "" "0000564474" "00006717" "50" "502" "0" "502" "0" "c.502G>T" "r.(?)" "p.(Val168Phe)" "" "" "0000564475" "00006717" "70" "513" "0" "513" "0" "c.513G>T" "r.(?)" "p.(Leu171Phe)" "" "" "0000564476" "00006717" "50" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(His175Tyr)" "" "" "0000564477" "00006717" "10" "523" "23" "523" "24" "c.523+23_523+24del" "r.(=)" "p.(=)" "" "" "0000564478" "00006717" "30" "523" "23" "523" "24" "c.523+23_523+24del" "r.(=)" "p.(=)" "" "" "0000564479" "00006717" "30" "523" "23" "523" "24" "c.523+23_523+24del" "r.(=)" "p.(=)" "" "" "0000564480" "00006717" "30" "523" "23" "523" "24" "c.523+23_523+24del" "r.(=)" "p.(=)" "" "" "0000564481" "00006717" "10" "523" "24" "523" "24" "c.523+24del" "r.(=)" "p.(=)" "" "" "0000564482" "00006717" "10" "523" "24" "523" "24" "c.523+24dup" "r.(=)" "p.(=)" "" "" "0000564483" "00006717" "10" "523" "24" "523" "24" "c.523+24dup" "r.(=)" "p.(=)" "" "" "0000564484" "00006717" "10" "524" "-9" "524" "-9" "c.524-9T>A" "r.(=)" "p.(=)" "" "" "0000564485" "00006717" "50" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Ser194Leu)" "" "" "0000564486" "00006717" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(Tyr198Cys)" "" "" "0000564487" "00006717" "10" "691" "-207" "691" "-207" "c.691-207G>A" "r.(=)" "p.(=)" "" "" "0000564488" "00006717" "10" "691" "-147" "691" "-147" "c.691-147T>C" "r.(=)" "p.(=)" "" "" "0000564489" "00006717" "30" "716" "0" "716" "0" "c.716T>C" "r.(?)" "p.(Val239Ala)" "" "" "0000564490" "00006717" "30" "783" "0" "783" "0" "c.783T>A" "r.(?)" "p.(Arg261=)" "" "" "0000564491" "00006717" "70" "803" "0" "810" "0" "c.803_810dup" "r.(?)" "p.(Val271IlefsTer4)" "" "" "0000564492" "00006717" "30" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Glu273Lys)" "" "" "0000564493" "00006717" "10" "828" "16" "828" "16" "c.828+16C>A" "r.(=)" "p.(=)" "" "" "0000564494" "00006717" "30" "829" "-15" "829" "-15" "c.829-15G>C" "r.(=)" "p.(=)" "" "" "0000564495" "00006717" "30" "829" "-5" "829" "-5" "c.829-5del" "r.spl?" "p.?" "" "" "0000564496" "00006717" "30" "852" "0" "852" "0" "c.852T>C" "r.(?)" "p.(Asn284=)" "" "" "0000564497" "00006717" "10" "861" "0" "861" "0" "c.861C>T" "r.(?)" "p.(Asn287=)" "" "" "0000564498" "00006717" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Val288Ile)" "" "" "0000564499" "00006717" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "" "" "0000564504" "00006717" "10" "1014" "27" "1014" "27" "c.1014+27G>A" "r.(=)" "p.(=)" "" "" "0000564505" "00006717" "30" "1015" "-39" "1015" "-39" "c.1015-39T>C" "r.(=)" "p.(=)" "" "" "0000564506" "00006717" "10" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ser351Gly)" "" "" "0000564507" "00006717" "30" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ser351Gly)" "" "" "0000564508" "00006717" "30" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ser351Gly)" "" "" "0000564509" "00006717" "30" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Ala355Thr)" "" "" "0000564510" "00006717" "50" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(Arg365Ser)" "" "" "0000564511" "00006717" "30" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(Arg365Ser)" "" "" "0000564512" "00006717" "30" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(Arg365Ser)" "" "" "0000564513" "00006717" "30" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(Arg365Ser)" "" "" "0000564514" "00006717" "50" "1109" "0" "1109" "0" "c.1109dup" "r.(?)" "p.(Thr371TyrfsTer19)" "" "" "0000564515" "00006717" "30" "1280" "17" "1280" "17" "c.1280+17C>T" "r.(=)" "p.(=)" "" "" "0000564516" "00006717" "10" "1280" "149" "1280" "149" "c.1280+149G>A" "r.(=)" "p.(=)" "" "" "0000564517" "00006717" "10" "1299" "0" "1299" "0" "c.1299T>C" "r.(?)" "p.(Asp433=)" "" "" "0000564518" "00006717" "30" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Asp435Asn)" "" "" "0000564519" "00006717" "30" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Asp435Asn)" "" "" "0000564520" "00006717" "50" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Gly483Asp)" "" "" "0000564521" "00006717" "30" "1458" "0" "1458" "0" "c.1458T>C" "r.(?)" "p.(Leu486=)" "" "" "0000564522" "00006717" "50" "1466" "0" "1466" "0" "c.1466T>C" "r.(?)" "p.(Val489Ala)" "" "" "0000564523" "00006717" "50" "1478" "0" "1478" "0" "c.1478A>G" "r.(?)" "p.(Asn493Ser)" "" "" "0000564524" "00006717" "50" "1502" "0" "1502" "0" "c.1502A>G" "r.(?)" "p.(Glu501Gly)" "" "" "0000564525" "00006717" "10" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(His508=)" "" "" "0000564526" "00006717" "30" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Asp509Asn)" "" "" "0000564527" "00006717" "10" "1543" "0" "1543" "0" "c.1543G>A" "r.(?)" "p.(Val515Ile)" "" "" "0000564528" "00006717" "10" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Ala517Val)" "" "" "0000564529" "00006717" "30" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Ala517Val)" "" "" "0000564530" "00006717" "30" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "" "0000564531" "00006717" "10" "1651" "70" "1651" "70" "c.1651+70T>C" "r.(=)" "p.(=)" "" "" "0000564532" "00006717" "30" "1652" "-12" "1652" "-12" "c.1652-12C>T" "r.(=)" "p.(=)" "" "" "0000564533" "00006717" "70" "1771" "0" "1771" "0" "c.1771T>C" "r.(?)" "p.(Cys591Arg)" "" "" "0000564534" "00006717" "30" "1826" "0" "1826" "0" "c.1826G>T" "r.(?)" "p.(Gly609Val)" "" "" "0000564535" "00006717" "10" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Cys637=)" "" "" "0000564536" "00006717" "50" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Arg)" "" "" "0000564537" "00006717" "50" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Arg)" "" "" "0000564538" "00006717" "10" "1914" "0" "1914" "0" "c.1914A>G" "r.(?)" "p.(Gly638=)" "" "" "0000564539" "00006717" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Gly640=)" "" "" "0000564540" "00006717" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Gly640=)" "" "" "0000564541" "00006717" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Gly640=)" "" "" "0000564542" "00006717" "30" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Thr745Met)" "" "" "0000564543" "00006717" "30" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Thr745Met)" "" "" "0000564544" "00006717" "30" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Thr747=)" "" "" "0000564545" "00006717" "30" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Thr747=)" "" "" "0000564546" "00006717" "10" "2318" "0" "2318" "0" "c.2318G>A" "r.(?)" "p.(Arg773Lys)" "" "" "0000564547" "00006717" "30" "2340" "0" "2340" "0" "c.2340G>T" "r.(?)" "p.(Ala780=)" "" "" "0000564548" "00006717" "70" "2349" "0" "2349" "0" "c.2349C>A" "r.(?)" "p.(Tyr783Ter)" "" "" "0000564549" "00006717" "10" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(His790Tyr)" "" "" "0000564551" "00006717" "50" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(His790Tyr)" "" "" "0000564552" "00006717" "30" "2484" "0" "2484" "0" "c.2484T>C" "r.(?)" "p.(Asp828=)" "" "" "0000564553" "00006717" "30" "2484" "0" "2484" "0" "c.2484T>C" "r.(?)" "p.(Asp828=)" "" "" "0000564554" "00006717" "10" "2505" "0" "2505" "0" "c.2505A>G" "r.(?)" "p.(Thr835=)" "" "" "0000564555" "00006717" "10" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Met863Leu)" "" "" "0000564556" "00006717" "30" "2619" "0" "2619" "0" "c.2619A>G" "r.(?)" "p.(Gln873=)" "" "" "0000564557" "00006717" "50" "2623" "0" "2623" "0" "c.2623A>G" "r.(?)" "p.(Met875Val)" "" "" "0000564558" "00006717" "50" "2623" "0" "2623" "0" "c.2623A>G" "r.(?)" "p.(Met875Val)" "" "" "0000564559" "00006717" "30" "2623" "0" "2623" "0" "c.2623A>G" "r.(?)" "p.(Met875Val)" "" "" "0000564560" "00006717" "10" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Thr881=)" "" "" "0000564561" "00006717" "30" "2643" "0" "2643" "0" "c.2643C>T" "r.(?)" "p.(Thr881=)" "" "" "0000564562" "00006717" "10" "2647" "0" "2647" "0" "c.2647T>C" "r.(?)" "p.(Ser883Pro)" "" "" "0000564563" "00006717" "30" "2693" "0" "2693" "0" "c.2693A>G" "r.(?)" "p.(Asn898Ser)" "" "" "0000564564" "00006717" "10" "2708" "0" "2708" "0" "c.2708C>T" "r.(?)" "p.(Thr903Ile)" "" "" "0000564565" "00006717" "10" "2742" "0" "2742" "0" "c.2742T>C" "r.(?)" "p.(Ser914=)" "" "" "0000564566" "00006717" "10" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Val920Gly)" "" "" "0000564567" "00006717" "10" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Val920Gly)" "" "" "0000564568" "00006717" "10" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Val920Gly)" "" "" "0000564569" "00006717" "30" "2759" "0" "2759" "0" "c.2759T>G" "r.(?)" "p.(Val920Gly)" "" "" "0000564570" "00006717" "30" "2868" "0" "2868" "0" "c.2868C>T" "r.(?)" "p.(Ser956=)" "" "" "0000564571" "00006717" "50" "2966" "0" "2966" "0" "c.2966A>T" "r.(?)" "p.(Glu989Val)" "" "" "0000564572" "00006717" "50" "2995" "0" "2995" "0" "c.2995T>C" "r.(?)" "p.(Ser999Pro)" "" "" "0000564573" "00006717" "50" "3040" "0" "3040" "0" "c.3040G>A" "r.(?)" "p.(Val1014Ile)" "" "" "0000564574" "00006717" "50" "3044" "0" "3044" "0" "c.3044T>C" "r.(?)" "p.(Met1015Thr)" "" "" "0000564575" "00006717" "50" "3044" "0" "3044" "0" "c.3044T>C" "r.(?)" "p.(Met1015Thr)" "" "" "0000564576" "00006717" "30" "3095" "0" "3095" "0" "c.3095C>T" "r.(?)" "p.(Thr1032Ile)" "" "" "0000564577" "00006717" "50" "3146" "0" "3146" "0" "c.3146G>T" "r.(?)" "p.(Arg1049Ile)" "" "" "0000564578" "00006717" "30" "3175" "0" "3175" "0" "c.3175T>A" "r.(?)" "p.(Ser1059Thr)" "" "" "0000564579" "00006717" "30" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Thr1070Met)" "" "" "0000564580" "00006717" "30" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Thr1070Met)" "" "" "0000564581" "00006717" "30" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Thr1070Met)" "" "" "0000564582" "00006717" "30" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Thr1070Met)" "" "" "0000564583" "00006717" "30" "3225" "0" "3225" "0" "c.3225G>A" "r.(?)" "p.(Thr1075=)" "" "" "0000564584" "00006717" "10" "3243" "0" "3243" "0" "c.3243C>T" "r.(?)" "p.(Val1081=)" "" "" "0000564585" "00006717" "10" "3295" "0" "3295" "0" "c.3295A>G" "r.(?)" "p.(Thr1099Ala)" "" "" "0000564586" "00006717" "30" "3295" "0" "3295" "0" "c.3295A>G" "r.(?)" "p.(Thr1099Ala)" "" "" "0000564587" "00006717" "50" "3295" "0" "3295" "0" "c.3295A>G" "r.(?)" "p.(Thr1099Ala)" "" "" "0000564588" "00006717" "10" "3321" "0" "3321" "0" "c.3321T>C" "r.(?)" "p.(Val1107=)" "" "" "0000564589" "00006717" "10" "3359" "0" "3359" "0" "c.*2C>T" "r.(=)" "p.(=)" "" "" "0000564590" "00006717" "50" "3359" "0" "3359" "0" "c.*2C>T" "r.(=)" "p.(=)" "" "" "0000564591" "00006717" "30" "3731" "0" "3731" "0" "c.*374T>C" "r.(=)" "p.(=)" "" "" "0000564592" "00006717" "10" "3922" "0" "3922" "0" "c.*565A>G" "r.(=)" "p.(=)" "" "" "0000617050" "00006717" "10" "45" "18" "45" "18" "c.45+18G>T" "r.(=)" "p.(=)" "" "" "0000617051" "00006717" "30" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "" "0000617053" "00006717" "10" "523" "14" "523" "14" "c.523+14T>G" "r.(=)" "p.(=)" "" "" "0000617054" "00006717" "30" "600" "0" "600" "0" "c.600C>A" "r.(?)" "p.(Ile200=)" "" "" "0000617055" "00006717" "50" "638" "0" "638" "0" "c.638T>G" "r.(?)" "p.(Leu213Arg)" "" "" "0000617056" "00006717" "50" "861" "0" "862" "0" "c.861_862delinsTA" "r.(?)" "p.(Val288Ile)" "" "" "0000617057" "00006717" "10" "877" "0" "877" "0" "c.877A>G" "r.(?)" "p.(Ile293Val)" "" "" "0000617059" "00006717" "10" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Ser351Gly)" "" "" "0000617060" "00006717" "50" "1072" "0" "1072" "0" "c.1072G>A" "r.(?)" "p.(Ala358Thr)" "" "" "0000617061" "00006717" "50" "1168" "0" "1168" "0" "c.1168dup" "r.(?)" "p.(Ser390LysfsTer9)" "" "" "0000617062" "00006717" "10" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Val392Ile)" "" "" "0000617063" "00006717" "30" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Ala450Thr)" "" "" "0000617064" "00006717" "10" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Ala517Val)" "" "" "0000617065" "00006717" "10" "1652" "-12" "1652" "-12" "c.1652-12C>T" "r.(=)" "p.(=)" "" "" "0000617066" "00006717" "10" "1781" "0" "1781" "0" "c.1781T>C" "r.(?)" "p.(Leu594Pro)" "" "" "0000617067" "00006717" "30" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(Leu617=)" "" "" "0000617068" "00006717" "50" "1912" "0" "1912" "0" "c.1912G>A" "r.(?)" "p.(Gly638Arg)" "" "" "0000617069" "00006717" "10" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Glu713Lys)" "" "" "0000617070" "00006717" "10" "2211" "0" "2211" "0" "c.2211C>T" "r.(?)" "p.(Gly737=)" "" "" "0000617071" "00006717" "70" "2334" "1" "2334" "1" "c.2334+1G>A" "r.spl?" "p.?" "" "" "0000617072" "00006717" "10" "2586" "0" "2586" "0" "c.2586T>C" "r.(?)" "p.(Ser862=)" "" "" "0000617073" "00006717" "30" "2612" "0" "2612" "0" "c.2612G>T" "r.(?)" "p.(Cys871Phe)" "" "" "0000617074" "00006717" "50" "2747" "0" "2747" "0" "c.2747A>G" "r.(?)" "p.(Gln916Arg)" "" "" "0000617076" "00006717" "10" "2886" "0" "2886" "0" "c.2886T>G" "r.(?)" "p.(Ile962Met)" "" "" "0000617077" "00006717" "30" "2984" "0" "2984" "0" "c.2984A>T" "r.(?)" "p.(His995Leu)" "" "" "0000617078" "00006717" "30" "3027" "0" "3027" "0" "c.3027A>G" "r.(?)" "p.(Gln1009=)" "" "" "0000617079" "00006717" "50" "3027" "0" "3027" "0" "c.3027del" "r.(?)" "p.(Asp1010MetfsTer7)" "" "" "0000617080" "00006717" "70" "3075" "0" "3075" "0" "c.3075del" "r.(?)" "p.(Ser1026AlafsTer13)" "" "" "0000617081" "00006717" "30" "3304" "0" "3304" "0" "c.3304A>G" "r.(?)" "p.(Thr1102Ala)" "" "" "0000623830" "00006717" "30" "121" "0" "121" "0" "c.121C>A" "r.(?)" "p.(His41Asn)" "" "" "0000623831" "00006717" "10" "273" "0" "273" "0" "c.273A>G" "r.(?)" "p.(Gly91=)" "" "" "0000623832" "00006717" "30" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "" "" "0000623833" "00006717" "30" "2211" "0" "2211" "0" "c.2211C>T" "r.(?)" "p.(Gly737=)" "" "" "0000623834" "00006717" "30" "2506" "0" "2506" "0" "c.2506C>G" "r.(?)" "p.(Leu836Val)" "" "" "0000623835" "00006717" "30" "2586" "0" "2586" "0" "c.2586T>C" "r.(?)" "p.(Ser862=)" "" "" "0000623836" "00006717" "30" "2886" "0" "2886" "0" "c.2886T>G" "r.(?)" "p.(Ile962Met)" "" "" "0000649789" "00006717" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Val56Met)" "" "" "0000649790" "00006717" "30" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "" "0000649791" "00006717" "50" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "" "" "0000658343" "00006717" "30" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Ala2=)" "" "" "0000658344" "00006717" "30" "216" "16" "216" "16" "c.216+16G>A" "r.(=)" "p.(=)" "" "" "0000658345" "00006717" "30" "1116" "0" "1116" "0" "c.1116C>G" "r.(?)" "p.(Pro372=)" "" "" "0000658346" "00006717" "70" "1281" "-1" "1281" "-1" "c.1281-1G>A" "r.spl?" "p.?" "" "" "0000658347" "00006717" "10" "1879" "10" "1879" "10" "c.1879+10del" "r.(=)" "p.(=)" "" "" "0000658348" "00006717" "50" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Val765Ile)" "" "" "0000658349" "00006717" "50" "2489" "0" "2489" "0" "c.2489G>C" "r.(?)" "p.(Gly830Ala)" "" "" "0000667443" "00006717" "70" "81" "1" "81" "1" "c.81+1G>C" "r.spl" "p.?" "" "" "0000669438" "00006717" "30" "473" "0" "473" "0" "c.473T>G" "r.(?)" "p.(Val158Gly)" "" "" "0000669439" "00006717" "50" "1376" "0" "1376" "0" "c.1376A>G" "r.(?)" "p.(Tyr459Cys)" "" "" "0000670173" "00006717" "70" "3059" "0" "3062" "0" "c.3059_3062del" "r.(?)" "p.(Glu1020Alafs*18)" "" "" "0000670174" "00006717" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "" "0000670175" "00006717" "70" "3025" "0" "3025" "0" "c.3025C>T" "r.(?)" "p.(Gln1009*)" "" "" "0000670180" "00006717" "50" "3340" "0" "3340" "0" "c.3340C>T" "r.(?)" "p.(Gln1114*)" "" "" "0000681119" "00006717" "50" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Glu144Lys)" "" "" "0000681120" "00006717" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Ile)" "" "" "0000681121" "00006717" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "" "" "0000681122" "00006717" "50" "1281" "-3" "1281" "-3" "c.1281-3C>G" "r.spl?" "p.?" "" "" "0000681123" "00006717" "30" "1392" "0" "1392" "0" "c.1392A>G" "r.(?)" "p.(Thr464=)" "" "" "0000681124" "00006717" "50" "1843" "0" "1843" "0" "c.1843A>G" "r.(?)" "p.(Ile615Val)" "" "" "0000681125" "00006717" "30" "3228" "0" "3228" "0" "c.3228G>A" "r.(?)" "p.(Val1076=)" "" "" "0000681126" "00006717" "30" "3298" "0" "3298" "0" "c.3298A>G" "r.(?)" "p.(Ile1100Val)" "" "" "0000692568" "00006717" "30" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" "" "" "0000692569" "00006717" "50" "557" "0" "557" "0" "c.557C>T" "r.(?)" "p.(Ala186Val)" "" "" "0000692570" "00006717" "70" "3128" "0" "3128" "0" "c.3128del" "r.(?)" "p.(Asn1043MetfsTer2)" "" "" "0000700614" "00006717" "50" "98" "0" "98" "0" "c.98A>G" "r.(?)" "p.(Asn33Ser)" "" "" "0000700755" "00006717" "70" "136" "0" "136" "0" "c.136C>T" "r.(?)" "p.(Arg46Trp)" "" "" "0000700756" "00006717" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "" "" "0000700757" "00006717" "70" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "" "" "0000700758" "00006717" "50" "178" "0" "178" "0" "c.178G>A" "r.(?)" "p.(Glu60Lys)" "" "" "0000700759" "00006717" "90" "495" "0" "495" "0" "c.495dup" "r.(?)" "p.(Gly166Trpfs*4)" "" "" "0000700760" "00006717" "70" "523" "1" "523" "1" "c.523+1G>A" "r.spl" "p.?" "" "" "0000700761" "00006717" "70" "852" "0" "855" "0" "c.852_855del" "r.(?)" "p.(Asn284Lysfs*4)" "" "" "0000700762" "00006717" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Arg292Cys)" "" "" "0000700763" "00006717" "50" "908" "0" "908" "0" "c.908C>T" "r.(?)" "p.(Ser303Phe)" "" "" "0000700764" "00006717" "70" "1038" "0" "1040" "0" "c.1038_1040del" "r.(?)" "p.(Lys346del)" "" "" "0000700765" "00006717" "70" "1765" "0" "1766" "0" "c.1765_1766insAA" "r.(?)" "p.(Thr589Lysfs*31)" "" "" "0000700766" "00006717" "90" "1880" "-2" "1880" "-2" "c.1880-2A>G" "r.spl" "p.?" "" "" "0000700767" "00006717" "50" "2332" "0" "2332" "0" "c.2332G>T" "r.(?)" "p.(Asp778Tyr)" "" "" "0000700768" "00006717" "70" "2434" "0" "2434" "0" "c.2434G>A" "r.(?)" "p.(Gly812Ser)" "" "" "0000700769" "00006717" "50" "3342" "0" "3342" "0" "c.3342G>T" "r.(?)" "p.(Gln1114His)" "" "" "0000701518" "00006717" "30" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Asn182Ser)" "" "" "0000701519" "00006717" "50" "3040" "0" "3040" "0" "c.3040G>A" "r.(?)" "p.(Val1014Ile)" "" "" "0000701766" "00006717" "70" "676" "0" "680" "0" "c.676_680del" "r.(?)" "p.(Thr226Glyfs*40)" "" "" "0000704339" "00006717" "50" "3038" "0" "3038" "0" "c.3038A>C" "r.(?)" "p.(Tyr1013Ser)" "" "" "0000714761" "00006717" "50" "81" "1" "81" "1" "c.81+1G>C" "r.spl?" "p.?" "" "" "0000726848" "00006717" "10" "45" "16" "45" "16" "c.45+16G>C" "r.(=)" "p.(=)" "" "" "0000726849" "00006717" "30" "573" "0" "573" "0" "c.573C>A" "r.(?)" "p.(Thr191=)" "" "" "0000726850" "00006717" "30" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Arg292His)" "" "" "0000726851" "00006717" "30" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Val533Ile)" "" "" "0000726852" "00006717" "50" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ile704Val)" "" "" "0000726853" "00006717" "30" "2703" "0" "2703" "0" "c.2703A>G" "r.(?)" "p.(Lys901=)" "" "" "0000726854" "00006717" "50" "3203" "0" "3203" "0" "c.3203C>G" "r.(?)" "p.(Ser1068Cys)" "" "" "0000726855" "00006717" "50" "3287" "0" "3287" "0" "c.3287C>A" "r.(?)" "p.(Ser1096Tyr)" "" "" "0000787559" "00006717" "70" "1021" "0" "1021" "0" "c.1021del" "r.(?)" "p.(Asp341IlefsTer5)" "" "" "0000808431" "00006717" "30" "15" "0" "15" "0" "c.15G>C" "r.(?)" "p.(Pro5=)" "" "" "0000808432" "00006717" "30" "45" "17" "45" "17" "c.45+17G>A" "r.(=)" "p.(=)" "" "" "0000808433" "00006717" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "" "" "0000808434" "00006717" "50" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Arg119Gln)" "" "" "0000808435" "00006717" "50" "516" "0" "516" "0" "c.516T>G" "r.(?)" "p.(Ser172Arg)" "" "" "0000808436" "00006717" "30" "706" "0" "706" "0" "c.706A>G" "r.(?)" "p.(Thr236Ala)" "" "" "0000808437" "00006717" "50" "863" "0" "863" "0" "c.863T>G" "r.(?)" "p.(Val288Gly)" "" "" "0000808438" "00006717" "30" "1095" "0" "1095" "0" "c.1095G>C" "r.(?)" "p.(Arg365Ser)" "" "" "0000808439" "00006717" "50" "1555" "0" "1555" "0" "c.1555G>T" "r.(?)" "p.(Asp519Tyr)" "" "" "0000808440" "00006717" "30" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ile704Val)" "" "" "0000808441" "00006717" "30" "2211" "0" "2211" "0" "c.2211C>T" "r.(?)" "p.(Gly737=)" "" "" "0000808442" "00006717" "10" "2241" "0" "2241" "0" "c.2241C>T" "r.(?)" "p.(Thr747=)" "" "" "0000808443" "00006717" "10" "2418" "0" "2418" "0" "c.2418G>A" "r.(?)" "p.(Ser806=)" "" "" "0000808444" "00006717" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Ala809Thr)" "" "" "0000808445" "00006717" "50" "2534" "0" "2538" "0" "c.2534_2538dup" "r.(?)" "p.(Ile847*)" "" "" "0000808446" "00006717" "30" "2586" "0" "2586" "0" "c.2586T>C" "r.(?)" "p.(Ser862=)" "" "" "0000808447" "00006717" "50" "2654" "0" "2654" "0" "c.2654G>A" "r.(?)" "p.(Gly885Asp)" "" "" "0000808448" "00006717" "10" "2796" "0" "2796" "0" "c.2796T>C" "r.(?)" "p.(Asn932=)" "" "" "0000808449" "00006717" "30" "2796" "0" "2796" "0" "c.2796T>C" "r.(?)" "p.(Asn932=)" "" "" "0000808450" "00006717" "30" "2886" "0" "2886" "0" "c.2886T>G" "r.(?)" "p.(Ile962Met)" "" "" "0000808451" "00006717" "30" "3027" "0" "3027" "0" "c.3027A>G" "r.(?)" "p.(Gln1009=)" "" "" "0000808452" "00006717" "50" "3318" "0" "3318" "0" "c.3318A>C" "r.(?)" "p.(Arg1106Ser)" "" "" "0000826633" "00006717" "70" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "" "0000855243" "00006717" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Arg49=)" "" "" "0000855244" "00006717" "30" "267" "0" "267" "0" "c.267C>T" "r.(?)" "p.(Tyr89=)" "" "" "0000855245" "00006717" "30" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Ile)" "" "" "0000855246" "00006717" "50" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Pro142Thr)" "" "" "0000855247" "00006717" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Asn155Asp)" "" "" "0000855248" "00006717" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Lys294Glu)" "" "" "0000855249" "00006717" "30" "1280" "10" "1280" "11" "c.1280+10_1280+11del" "r.(=)" "p.(=)" "" "" "0000855250" "00006717" "30" "1281" "0" "1281" "0" "c.1281A>G" "r.(?)" "p.(Arg427=)" "" "" "0000855251" "00006717" "30" "1688" "0" "1688" "0" "c.1688T>G" "r.(?)" "p.(Leu563Arg)" "" "" "0000855252" "00006717" "10" "1875" "0" "1875" "0" "c.1875G>C" "r.(?)" "p.(Leu625=)" "" "" "0000855253" "00006717" "10" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Cys637=)" "" "" "0000855254" "00006717" "10" "1914" "0" "1914" "0" "c.1914A>G" "r.(?)" "p.(Gly638=)" "" "" "0000855255" "00006717" "50" "2506" "0" "2506" "0" "c.2506C>G" "r.(?)" "p.(Leu836Val)" "" "" "0000855256" "00006717" "30" "3118" "0" "3118" "0" "c.3118G>A" "r.(?)" "p.(Val1040Ile)" "" "" "0000855257" "00006717" "30" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Thr1070Met)" "" "" "0000865644" "00006717" "90" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "" "0000865645" "00006717" "90" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Arg46Gln)" "" "" "0000865646" "00006717" "50" "269" "0" "269" "0" "c.269C>T" "r.(?)" "p.(Thr90Ile)" "" "" "0000865647" "00006717" "30" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Tyr130=)" "" "" "0000865648" "00006717" "30" "2307" "0" "2307" "0" "c.2307A>G" "r.(?)" "p.(Glu769=)" "" "" "0000865649" "00006717" "50" "3093" "0" "3093" "0" "c.3093dup" "r.(?)" "p.(Thr1032Tyrfs*6)" "" "" "0000865650" "00006717" "50" "3266" "0" "3266" "0" "c.3266G>T" "r.(?)" "p.(Gly1089Val)" "" "" "0000865651" "00006717" "30" "3304" "0" "3304" "0" "c.3304A>G" "r.(?)" "p.(Thr1102Ala)" "" "" "0000894470" "00006717" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Leu14Phe)" "" "" "0000894471" "00006717" "10" "45" "17" "45" "17" "c.45+17G>A" "r.(=)" "p.(=)" "" "" "0000894472" "00006717" "30" "121" "0" "121" "0" "c.121C>A" "r.(?)" "p.(His41Asn)" "" "" "0000894473" "00006717" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Glu156Lys)" "" "" "0000894474" "00006717" "50" "635" "0" "635" "0" "c.635A>C" "r.(?)" "p.(Tyr212Ser)" "" "" "0000894475" "00006717" "50" "736" "0" "736" "0" "c.736G>C" "r.(?)" "p.(Gly246Arg)" "" "" "0000894476" "00006717" "50" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Asp304Gly)" "" "" "0000894477" "00006717" "50" "1014" "3" "1014" "3" "c.1014+3A>G" "r.spl?" "p.?" "" "" "0000894478" "00006717" "30" "1160" "0" "1160" "0" "c.1160A>G" "r.(?)" "p.(His387Arg)" "" "" "0000894479" "00006717" "30" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Ser398=)" "" "" "0000894480" "00006717" "50" "1232" "0" "1232" "0" "c.1232G>C" "r.(?)" "p.(Gly411Ala)" "" "" "0000894481" "00006717" "10" "1280" "18" "1280" "18" "c.1280+18G>C" "r.(=)" "p.(=)" "" "" "0000894482" "00006717" "30" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Asp435Asn)" "" "" "0000894483" "00006717" "30" "1368" "0" "1368" "0" "c.1368A>G" "r.(?)" "p.(Glu456=)" "" "" "0000894484" "00006717" "30" "1392" "0" "1392" "0" "c.1392A>G" "r.(?)" "p.(Thr464=)" "" "" "0000894485" "00006717" "30" "1597" "0" "1597" "0" "c.1597G>A" "r.(?)" "p.(Val533Ile)" "" "" "0000894486" "00006717" "50" "1643" "0" "1643" "0" "c.1643G>A" "r.(?)" "p.(Arg548His)" "" "" "0000894487" "00006717" "30" "1652" "-12" "1652" "-12" "c.1652-12C>G" "r.(=)" "p.(=)" "" "" "0000894488" "00006717" "30" "1848" "0" "1848" "0" "c.1848G>A" "r.(?)" "p.(Ala616=)" "" "" "0000894489" "00006717" "30" "2110" "0" "2110" "0" "c.2110A>G" "r.(?)" "p.(Ile704Val)" "" "" "0000894490" "00006717" "30" "2275" "0" "2275" "0" "c.2275G>A" "r.(?)" "p.(Gly759Arg)" "" "" "0000894491" "00006717" "30" "2372" "0" "2372" "0" "c.2372C>A" "r.(?)" "p.(Thr791Lys)" "" "" "0000894492" "00006717" "50" "2491" "0" "2491" "0" "c.2491C>T" "r.(?)" "p.(Leu831Phe)" "" "" "0000894493" "00006717" "50" "3232" "0" "3232" "0" "c.3232G>A" "r.(?)" "p.(Gly1078Arg)" "" "" "0000894494" "00006717" "30" "3281" "0" "3281" "0" "c.3281G>A" "r.(?)" "p.(Gly1094Asp)" "" "" "0000915033" "00006717" "30" "81" "16" "81" "16" "c.81+16G>T" "r.(=)" "p.(=)" "" "" "0000915034" "00006717" "70" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "" "" "0000915035" "00006717" "50" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Pro157Leu)" "" "" "0000915036" "00006717" "10" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Ile200=)" "" "" "0000915037" "00006717" "50" "716" "0" "716" "0" "c.716T>G" "r.(?)" "p.(Val239Gly)" "" "" "0000915038" "00006717" "50" "943" "0" "943" "0" "c.943G>C" "r.(?)" "p.(Gly315Arg)" "" "" "0000915039" "00006717" "50" "2001" "3" "2001" "3" "c.2001+3C>G" "r.spl?" "p.?" "" "" "0000926711" "00006717" "10" "45" "9" "45" "9" "c.45+9C>G" "r.(=)" "p.(=)" "" "" "0000926712" "00006717" "50" "580" "0" "580" "0" "c.580T>C" "r.(?)" "p.(Ser194Pro)" "" "" "0000926713" "00006717" "10" "829" "-19" "829" "-18" "c.829-19_829-18del" "r.(=)" "p.(=)" "" "" "0000926714" "00006717" "50" "875" "0" "875" "0" "c.875G>A" "r.(?)" "p.(Arg292His)" "" "" "0000926715" "00006717" "10" "1280" "17" "1280" "17" "c.1280+17C>T" "r.(=)" "p.(=)" "" "" "0000926716" "00006717" "30" "1875" "0" "1875" "0" "c.1875G>C" "r.(?)" "p.(Leu625=)" "" "" "0000926717" "00006717" "50" "1975" "0" "1975" "0" "c.1975A>G" "r.(?)" "p.(Asn659Asp)" "" "" "0000926718" "00006717" "50" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Glu786Lys)" "" "" "0000930941" "00006717" "10" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Asp435Asn)" "" "" "0000930942" "00006717" "10" "1458" "0" "1458" "0" "c.1458T>C" "r.(?)" "p.(Leu486=)" "" "" "0000930943" "00006717" "50" "2210" "0" "2210" "0" "c.2210G>A" "r.(?)" "p.(Gly737Asp)" "" "" "0000930944" "00006717" "50" "2368" "0" "2368" "0" "c.2368C>T" "r.(?)" "p.(His790Tyr)" "" "" "0000930945" "00006717" "30" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(=)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 243 "{{screeningid}}" "{{variantid}}" "0000029031" "0000052372" "0000029040" "0000052381" "0000029041" "0000052382" "0000044026" "0000071831" "0000064165" "0000095129" "0000064166" "0000095131" "0000064206" "0000095204" "0000064214" "0000095231" "0000064225" "0000095274" "0000064230" "0000095290" "0000064250" "0000095362" "0000064256" "0000095404" "0000064297" "0000095542" "0000064313" "0000095602" "0000064323" "0000095627" "0000064351" "0000095719" "0000064400" "0000095792" "0000064841" "0000096478" "0000064864" "0000096517" "0000128835" "0000217967" "0000129233" "0000218373" "0000129254" "0000218399" "0000129289" "0000218447" "0000129306" "0000218470" "0000171693" "0000391984" "0000210122" "0000441752" "0000210123" "0000441753" "0000210213" "0000441573" "0000210214" "0000441574" "0000210215" "0000441575" "0000210216" "0000441576" "0000210217" "0000441577" "0000210218" "0000441578" "0000210219" "0000441579" "0000210219" "0000441754" "0000210220" "0000441580" "0000210220" "0000441581" "0000210221" "0000441582" "0000210222" "0000441583" "0000210223" "0000441584" "0000210224" "0000441585" "0000210225" "0000441586" "0000210226" "0000441587" "0000210227" "0000441588" "0000210228" "0000441589" "0000210229" "0000441590" "0000210230" "0000441591" "0000210231" "0000441592" "0000210232" "0000441593" "0000210233" "0000441594" "0000210234" "0000441595" "0000210235" "0000441596" "0000210235" "0000441597" "0000210236" "0000441598" "0000210237" "0000441599" "0000210238" "0000441600" "0000210239" "0000441601" "0000210240" "0000441602" "0000210241" "0000441603" "0000210242" "0000441604" "0000210243" "0000441605" "0000210244" "0000441606" "0000210244" "0000441607" "0000210245" "0000441608" "0000210246" "0000441609" "0000210247" "0000441610" "0000210248" "0000441611" "0000210249" "0000441612" "0000210250" "0000441613" "0000210251" "0000441614" "0000210252" "0000441615" "0000210253" "0000441616" "0000210254" "0000441617" "0000210255" "0000441618" "0000210256" "0000441619" "0000210257" "0000441620" "0000210258" "0000441621" "0000210259" "0000441622" "0000210260" "0000441623" "0000210261" "0000441624" "0000210262" "0000441625" "0000210263" "0000441626" "0000210264" "0000441627" "0000210265" "0000441628" "0000210266" "0000441629" "0000210267" "0000441630" "0000210268" "0000441631" "0000210269" "0000441632" "0000210270" "0000441633" "0000210271" "0000441634" "0000210272" "0000441635" "0000210273" "0000441636" "0000210274" "0000441637" "0000210275" "0000441638" "0000210276" "0000441639" "0000210277" "0000441640" "0000210278" "0000441641" "0000210279" "0000441642" "0000210280" "0000441643" "0000210281" "0000441644" "0000210282" "0000441645" "0000210283" "0000441646" "0000210284" "0000441647" "0000210285" "0000441648" "0000210286" "0000441649" "0000210287" "0000441650" "0000210288" "0000441651" "0000210289" "0000441652" "0000210290" "0000441653" "0000210291" "0000441654" "0000210292" "0000441655" "0000210293" "0000441656" "0000210294" "0000441657" "0000210295" "0000441658" "0000210296" "0000441659" "0000210297" "0000441660" "0000210298" "0000441661" "0000210299" "0000441662" "0000210300" "0000441663" "0000210301" "0000441664" "0000210302" "0000441665" "0000210303" "0000441666" "0000210304" "0000441667" "0000210304" "0000441668" "0000210305" "0000441669" "0000210306" "0000441670" "0000210306" "0000441671" "0000210307" "0000441672" "0000210308" "0000441673" "0000210309" "0000441674" "0000210310" "0000441675" "0000210311" "0000441676" "0000210312" "0000441677" "0000210313" "0000441678" "0000210314" "0000441679" "0000210315" "0000441680" "0000210316" "0000441681" "0000210317" "0000441682" "0000210318" "0000441683" "0000210319" "0000441684" "0000210320" "0000441685" "0000210321" "0000441686" "0000210322" "0000441687" "0000210323" "0000441688" "0000210324" "0000441689" "0000210325" "0000441690" "0000210326" "0000441691" "0000210327" "0000441692" "0000210328" "0000441693" "0000210329" "0000441694" "0000210330" "0000441695" "0000210331" "0000441696" "0000210332" "0000441697" "0000210333" "0000441698" "0000210334" "0000441699" "0000210335" "0000441700" "0000210336" "0000441701" "0000210337" "0000441702" "0000210338" "0000441703" "0000210339" "0000441704" "0000210340" "0000441705" "0000210341" "0000441706" "0000210342" "0000441707" "0000210343" "0000441708" "0000210344" "0000441709" "0000210345" "0000441710" "0000210346" "0000441711" "0000210347" "0000441712" "0000210348" "0000441713" "0000210349" "0000441714" "0000210350" "0000441715" "0000210351" "0000441716" "0000210352" "0000441717" "0000210353" "0000441718" "0000210354" "0000441719" "0000210355" "0000441720" "0000210356" "0000441721" "0000210357" "0000441722" "0000210358" "0000441723" "0000210359" "0000441724" "0000210360" "0000441725" "0000210361" "0000441726" "0000210362" "0000441727" "0000210363" "0000441728" "0000210364" "0000441729" "0000210365" "0000441730" "0000210366" "0000441731" "0000210367" "0000441732" "0000210368" "0000441733" "0000210369" "0000441734" "0000210370" "0000441735" "0000210371" "0000441736" "0000210372" "0000441737" "0000210373" "0000441738" "0000210374" "0000441739" "0000210375" "0000441740" "0000210376" "0000441741" "0000210377" "0000441742" "0000210378" "0000441743" "0000210379" "0000441744" "0000210380" "0000441745" "0000210381" "0000441746" "0000210382" "0000441747" "0000210383" "0000441748" "0000210384" "0000441749" "0000210385" "0000441750" "0000210386" "0000441751" "0000211046" "0000442451" "0000211047" "0000442457" "0000211054" "0000442472" "0000220479" "0000455455" "0000293100" "0000649789" "0000293101" "0000649790" "0000293102" "0000649791" "0000297818" "0000701766" "0000304045" "0000667443" "0000305750" "0000669438" "0000305751" "0000669439" "0000306485" "0000670173" "0000306486" "0000670174" "0000306487" "0000670175" "0000306488" "0000670180" "0000318008" "0000700614" "0000318149" "0000700755" "0000318150" "0000700756" "0000318151" "0000700757" "0000318152" "0000700758" "0000318153" "0000700759" "0000318154" "0000700760" "0000318155" "0000700761" "0000318156" "0000700762" "0000318157" "0000700763" "0000318158" "0000700764" "0000318159" "0000700765" "0000318160" "0000700766" "0000318161" "0000700767" "0000318162" "0000700768" "0000318163" "0000700769" "0000318912" "0000701518" "0000318913" "0000701519" "0000321481" "0000704339" "0000330230" "0000714761" "0000375842" "0000787559"