### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DSP) # 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}}" "DSP" "desmoplakin" "6" "pter-p21" "unknown" "NG_008803.1" "UD_132118441332" "" "https://www.LOVD.nl/DSP" "ARVD/C genetic variants database " "1" "3052" "1832" "125647" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DSP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-01-23 00:00:00" "00006" "2018-12-23 12:08:38" "00000" "2025-07-21 16:56:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006721" "DSP" "transcript variant 1" "001" "NM_004415.2" "" "NP_004406.2" "" "" "" "-279" "9451" "8616" "7541870" "7586946" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 23 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00946" "-" "cardiomyopathy, hypertrophic, early-onset fatal" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "01692" "-" "cardiomyopathy, diltaed, with hypergonadotropic hypogonadism (Malouf syndrome)" "AD" "212112" "" "" "" "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" "02478" "ADCADN" "ataxia, cerebellar, deafness, and narcolepsy, autosomal dominant" "AD" "604121" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02560" "DCWHK" "cardiomyopathy, dilated with woolly hair and keratoderma (DCWHK, Carvajal syndrome)" "AR" "605676" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02656" "ARVD8" "dysplasia, ventricular, right, arrhythmogenic, type 8 (ARVD-8)" "AD" "607450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02687" "SFWHS" "skin fragility, woolly hair syndrome (SFWHS)" "AR" "607655" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02868" "EBLA" "epidermolysis bullosa, lethal acantholytic (EBLA)" "AR" "609638" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03202" "PPKS2" "keratosis palmoplantaris striata, type 2 (PPKS-2)" "AD" "612908" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04453" "DCWHKTA" "cardiomyopathy, dilated with woolly hair, keratoderma, and tooth agenesis (DCWHKTA)" "AD" "615821" "" "" "" "00000" "2015-09-23 10:25:22" "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" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "DSP" "02560" "DSP" "02656" "DSP" "02687" "DSP" "02868" "DSP" "03202" "DSP" "04453" ## Individuals ## Do not remove or alter this header ## ## Count = 433 "{{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}}" "00019861" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00028985" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "Belgium" ">48y" "0" "" "" "European" "" "00028986" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "F" "" "United States" ">68y" "0" "" "" "white" "" "00028992" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "United States" ">41y" "0" "" "" "white" "" "00064032" "" "" "" "2" "" "00006" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "3-generation family, 2 affecteds (2M), 5 suspected (F, 4M)" "M" "" "" "" "0" "" "" "" "" "00064068" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064080" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064087" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064095" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064099" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064110" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064115" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064123" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064127" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064134" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064135" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064142" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064157" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064163" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064164" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064165" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064168" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064169" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064174" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064183" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064186" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064188" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064189" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064192" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064197" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064210" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064220" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064222" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064268" "" "" "" "4" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064269" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064270" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064271" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064272" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064704" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "11y" "0" "" "" "" "" "00064734" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "43y" "0" "" "" "" "" "00064735" "" "" "" "1" "" "01601" "" "" "M" "" "Denmark" "44y" "0" "" "" "" "" "00064763" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y03m" "0" "" "" "Europe" "SIDS010" "00065135" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y03m" "0" "" "" "Europe" "SIDS073" "00128363" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "22" "00128384" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "80" "00128393" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "90" "00128399" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "101" "00128407" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "114" "00128422" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "151" "00128423" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "152" "00128425" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "154" "00128428" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "157" "00128439" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "188" "00128450" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "214" "00128456" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "229" "00128460" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "233" "00128478" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "268" "00128490" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "288" "00143769" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" "" "00163867" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "F" "" "Netherlands" "58y" "" "yes" "" "North African" "" "00209252" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209253" "" "" "" "0" "" "03133" "Unpublished" "" "" "" "" "" "0" "" "" "" "" "00209330" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209331" "" "" "" "1" "" "00802" "{PMID:Yang:16917092}" "" "" "" "" "" "0" "" "" "" "" "00209332" "" "" "" "1" "" "00802" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209333" "" "" "" "1" "" "00802" "{PMID:Yang et al:16917092}" "" "" "" "" "" "0" "" "" "" "" "00209334" "" "" "" "3" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209335" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}" "Functional analysis suggests that the aberrant transcripts would be degraded" "" "" "" "" "0" "" "" "" "" "00209336" "" "" "" "1" "" "00802" "{PMID:Yang:16917092}" "" "" "" "" "" "0" "" "" "" "" "00209337" "" "" "" "16" "" "00802" "{PMID:Rampazzo 2002:12373648}, {PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209338" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209339" "" "" "" "1" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "Left Dominant Arrhythmogenic Cardiomyopathy" "" "" "" "" "0" "" "" "" "" "00209340" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587" "Compound heterozygote: DSP p.Lys470Glu and p.Ala556Thr" "" "" "" "" "0" "" "" "" "" "00209341" "" "" "" "1" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "Left Dominant Arrhythmogenic Cardiomyopathy" "" "" "" "" "0" "" "" "" "" "00209342" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209343" "" "" "" "1" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "Left Dominant Arrythmogenic Cardiomyopathy" "" "" "" "" "0" "" "" "" "" "00209344" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209345" "" "" "" "1" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "Left Dominant Arrhythmogenic Cardiomyopathy" "" "" "" "" "0" "" "" "" "" "00209346" "" "" "" "1" "" "00802" "{PMID:Norgett:16628197}" "Autosomal dominant" "" "" "" "" "0" "" "" "" "" "00209347" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209348" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209349" "" "" "" "4" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "Left Dominant Arrhythmogenic Cardiomyopathy" "" "" "" "" "0" "" "" "" "" "00209350" "" "" "" "1" "" "00802" "{PMID:Sen-Chowdhry:19095136}" "Left Dominant Arrhythmogenic Cardiomyopathy" "" "" "" "" "0" "" "" "" "" "00209351" "" "" "" "2" "" "00802" "{PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587" "" "" "" "" "" "0" "" "" "" "" "00209352" "" "" "" "1" "" "00802" "{PMID:Uzumcu:16467215}" "Autosomal recessive" "" "" "" "" "0" "" "" "" "" "00209353" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209354" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209355" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209356" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}" "" "" "" "" "" "0" "" "" "" "" "00209357" "" "" "" "1" "" "00802" "{PMID:Basso:16774985}" "" "" "" "" "" "0" "" "" "" "" "00209358" "" "" "" "1" "" "00802" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "20152563-Pat17" "00209359" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209360" "" "" "" "4" "" "00802" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}" "Also listed in dbSNP" "" "" "" "" "0" "" "" "" "" "00209361" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209362" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209363" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587" "Autosomal recessive, \"Naxos-like\", TFC+" "" "" "" "" "0" "" "" "" "" "00209364" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209365" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587" "Autosomal recessive; DCM" "" "" "" "" "0" "" "" "" "" "00209366" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209367" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209368" "" "" "" "1" "" "00802" "{PMID:Yang:16917092}" "Autosomal dominant" "" "" "" "" "0" "" "" "" "" "00209369" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" "" "00209370" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209371" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209372" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209373" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209374" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209375" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209376" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209377" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209378" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209379" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209380" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209381" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209382" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209383" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209384" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209385" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209386" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209387" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209388" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209389" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209390" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209391" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209392" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209393" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209394" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209395" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209396" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209397" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209398" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209399" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209400" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209401" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209402" "" "" "" "1" "" "00802" "" "from Canada" "" "" "" "" "0" "" "" "" "" "00209403" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209404" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209405" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209406" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209407" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209408" "" "" "" "1" "" "00802" "{PMID:Tanaka:19016709}" "DCM; Carvajal-like: wooly hair; palmoplantar keratoderma" "" "" "" "" "0" "" "" "" "" "00209409" "" "" "" "1" "" "00802" "{PMID:Asimaki:19279339}" "SCD at age 18" "" "" "" "" "0" "" "" "" "" "00209410" "" "" "" "1" "" "00802" "{PMID:Asimaki:19279339}" "SCA at age 42" "" "" "" "" "0" "" "" "" "" "00209411" "" "" "" "1" "" "00802" "{PMID:Asimaki:19279339}" "SCD at age 36" "" "" "" "" "0" "" "" "" "" "00209412" "" "" "" "3" "" "00802" "{PMID:Dalal 2009:19358943}" "" "" "" "" "" "0" "" "" "" "" "00209413" "" "" "" "1" "" "00802" "" "SCD at age 9; cardiomyopathy, plantar keratoderma, alopecia and bullous dermatosis" "" "" "" "" "0" "" "" "" "" "00209414" "" "" "" "2" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "with wooly hair and mild palmoplantar keratoderma" "" "" "" "" "0" "" "" "" "" "00209415" "" "" "" "1" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "10 siblings SD<35years, all had woolly hair" "" "" "" "" "0" "" "" "" "" "00209416" "" "" "" "2" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209417" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209418" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209419" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "" "" "" "" "" "0" "" "" "" "" "00209420" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209421" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209422" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209423" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209424" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209425" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" "" "00209426" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209427" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209428" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209429" "" "" "" "1" "" "00802" "" "Found once in 370 patients" "" "" "" "" "0" "" "" "" "" "00209430" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209431" "" "" "" "1" "" "00802" "" "Found once in 350 patients" "" "" "" "" "0" "" "" "" "" "00209432" "" "" "" "1" "" "00802" "" "Found once in 370 patients" "" "" "" "" "0" "" "" "" "" "00209433" "" "" "" "1" "" "00802" "{PMID:Krahn:19597050}" "Cardiac arrest survivor" "" "" "" "" "0" "" "" "" "" "00209434" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" "" "00209435" "" "" "" "1" "" "00802" "{PMID:Xu 2010:20152563}" "2-generation family, 1 affected" "M" "" "" "" "0" "" "" "" "20152563-FamAPat01" "00209436" "" "" "" "1" "" "00802" "{PMID:Xu 2010:20152563}" "" "" "" "" "" "0" "" "" "" "20152563-Pat02" "00209437" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209438" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209439" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209440" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "" "" "" "" "" "0" "" "" "" "" "00209441" "" "" "" "0" "" "03133" "{PMID:Rasmussen 2013:23137101}" "" "" "" "" "" "0" "" "" "" "" "00209442" "" "" "" "0" "" "03133" "{PMID:Rasmussen 2013:23137101}" "" "" "" "" "" "0" "" "" "" "" "00209443" "" "" "" "0" "" "03133" "{PMID:Rasmussen 2013:23137101}" "" "" "" "" "" "0" "" "" "" "" "00209444" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209445" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209446" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209447" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209448" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209449" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209450" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209451" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209452" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209453" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209454" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209455" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209456" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209457" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209458" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209459" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209460" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209461" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209462" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209463" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209464" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209465" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209466" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209467" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209468" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209469" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209470" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209471" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209472" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209473" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209474" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209475" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209476" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209477" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209478" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209479" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209480" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209481" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209482" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209483" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209484" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209485" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209486" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209487" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209488" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209489" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209490" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209491" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209492" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209493" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209494" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209495" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209496" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209497" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209498" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209499" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209500" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209501" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209502" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209503" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209504" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209505" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209506" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209507" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209508" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209509" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209510" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209511" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209512" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209513" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209514" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209515" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209516" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209517" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209518" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209519" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209520" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209521" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209522" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209523" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209524" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209525" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209526" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209527" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209528" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209529" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209530" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209531" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209532" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209533" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209534" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209535" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209536" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209537" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209538" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209539" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209540" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209541" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209542" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209543" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209544" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209545" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209546" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209547" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209548" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209549" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209550" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209551" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209552" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209553" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209554" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209555" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209556" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209557" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209558" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209559" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209560" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209561" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209562" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209563" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209564" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209565" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209566" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209780" "" "" "" "1" "" "00802" "escardio.org (ID24&id=4371:Rampazzo}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}" "" "M" "" "" "" "0" "" "" "" "20152563-Pat16" "00209987" "" "" "" "5" "" "00006" "{PMID:Bauce 2010:20129281}" "5-generation family, 5 affected (3F, 2M)" "F" "" "Italy" "" "0" "" "" "" "20129281-Fam137PatIv5" "00209988" "" "" "" "5" "" "00006" "{PMID:Bauce 2010:20129281}" "2-generation family, 5 affected (F, 4M)" "F" "" "Italy" "" "0" "" "" "" "20129281-Fam104PatII7" "00209991" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "M" "" "United States" "" "0" "" "" "" "20152563-Pat12" "00209992" "" "" "" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "F" "" "United States" "" "0" "" "" "" "20152563-Pat11" "00228165" "" "" "" "1" "" "00006" "{PMID:Marston 2015:26406308}" "" "M" "" "Australia" "" "0" "" "" "" "D4" "00247313" "" "" "" "7" "" "02401" "" "" "F" "no" "Italy" ">61y" "0" "" "" "" "Subject II:10" "00294183" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294184" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294185" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294186" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294187" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294188" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294189" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294190" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294192" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294193" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294195" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294196" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294197" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294199" "" "" "" "60" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294203" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294204" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295211" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295352" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295473" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296711" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "African American" "NCG_00537" "00305117" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305347" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "138430" "00305348" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "155552" "00305349" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "105298" "00305350" "" "" "" "1" "" "01164" "" "" "M" "?" "" "" "0" "" "" "" "138383" "00305351" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "157153" "00316827" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316828" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316829" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316830" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316831" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316832" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316833" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316834" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom 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(Great Britain)" "" "0" "" "" "" "" "00317015" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317016" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317017" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317018" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317019" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317020" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317021" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317022" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317023" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317732" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317733" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317734" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317735" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317736" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317737" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317738" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317739" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00320290" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "M" "" "Australia" "" "0" "" "" "Europe-NW" "CPV1" "00376409" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat085" "00376423" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat160" "00376439" "" "" "" "1" "" "00006" "{PMID:Nguyen 2021:34011823}" "" "" "" "Viet Nam" "" "0" "" "" "" "Pat263" "00417651" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417675" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00417685" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00418362" "" "" "" "1" "" "00006" "{PMID:Reinstein 2016:27329731}" "" "M" "" "Israel" "" "0" "" "" "Jew-Ashkenazi;Libya" "patient" "00424916" "" "" "" "2" "" "03069" "{PMID:Pantou 2023:37143080}" "" "F" "likely" "Greece" ">19y" "0" "" "" "" "II2" "00433142" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat123,1" "00446778" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat53" "00446790" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat70" "00446791" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat72" "00446793" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat76" "00446814" "" "" "" "2" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "family, 2 affected; case not solved" "" "" "" "" "0" "" "" "" "FamJPat101" "00446818" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat106" "00446839" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat137" "00446878" "" "" "00446814" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "relative; case not solved" "" "" "" "" "0" "" "" "" "FamJPat132" "00453150" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam334Pat368" "00453175" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam217Pat236" "00453176" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam51Pat95" "00453177" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam109Pat132" "00453178" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam245Pat261" "00461012" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00461019" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00465782" "" "" "" "1" "" "03236" "" "" "F" "" "France" "" "0" "" "" "" "" "00465783" "" "" "" "1" "" "03236" "" "" "" "" "France" "" "0" "" "" "" "" "00465784" "" "" "" "1" "" "03236" "" "" "" "" "France" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 431 "{{individualid}}" "{{diseaseid}}" "00019861" "00139" "00028985" "04170" "00028986" "04170" "00028992" "04170" "00064032" "05158" "00064068" "00351" "00064080" "00351" "00064087" "00351" "00064095" "00351" "00064099" "00351" "00064110" "00351" "00064115" "00351" "00064123" "00351" "00064127" "00351" "00064134" "00351" "00064135" "00351" "00064142" "00351" "00064157" "00351" "00064163" "00351" "00064164" "00351" "00064165" "00351" "00064168" "00351" "00064169" "00351" "00064174" "00351" "00064183" "00351" "00064186" "00351" "00064188" "00351" "00064189" "00351" "00064192" "00351" "00064197" "00351" "00064210" "00351" "00064220" "00351" "00064222" "00351" "00064268" "00351" "00064269" "00351" "00064270" "00351" "00064271" "00351" "00064272" "00351" "00064704" "05166" "00064734" "05166" "00064735" "05166" "00064763" "02087" "00065135" "02087" "00128363" "00198" "00128384" "00198" "00128393" "00198" "00128399" "00198" "00128407" "00198" "00128422" "00198" "00128423" "00198" "00128425" "00198" "00128428" "00198" "00128439" "00198" "00128450" "00198" "00128456" "00198" "00128460" "00198" "00128478" "00198" "00128490" "00198" "00143769" "05099" "00163867" "00352" "00209330" "00198" "00209331" "05099" "00209332" "05099" "00209333" "05099" "00209334" "05099" "00209335" "05099" "00209336" "05099" "00209337" "05099" "00209338" "00198" "00209339" "04172" "00209340" "05099" "00209341" "04172" "00209342" "05099" "00209343" "04172" "00209344" "05099" "00209345" "04172" "00209346" "00352" "00209347" "00198" "00209348" "00198" "00209349" "04172" "00209350" "04172" "00209351" "05099" "00209352" "00352" "00209353" "00198" "00209354" "00198" "00209355" "00198" "00209356" "00198" "00209357" "05099" "00209358" "05099" "00209359" "00198" "00209360" "00198" "00209361" "05099" "00209362" "00198" "00209363" "00352" "00209364" "00198" "00209365" "00352" "00209366" "05099" "00209367" "00198" "00209368" "05099" "00209369" "00198" "00209370" "00198" "00209371" "00198" "00209372" "00198" "00209373" "00198" "00209374" "00198" "00209375" "00198" "00209376" "00198" "00209377" "00198" "00209378" "00198" "00209379" "00198" "00209380" "00198" "00209381" "00198" "00209382" "00198" "00209383" "00198" "00209384" "00198" "00209385" "00198" "00209386" "00198" "00209387" "00198" "00209388" "00198" "00209389" "00198" "00209390" "00198" "00209391" "00198" "00209392" "00198" "00209393" "00198" "00209394" "00198" "00209395" "00198" "00209396" "00198" "00209397" "00198" "00209398" "00198" "00209399" "00198" "00209400" "00198" "00209401" "00198" "00209402" "00198" "00209403" "00198" "00209404" "00198" "00209405" "00198" "00209406" "00198" "00209407" "00198" "00209408" "00352" "00209409" "05099" "00209410" "05099" "00209411" "05099" "00209412" "05099" "00209413" "04172" "00209414" "05099" "00209415" "05099" "00209416" "05099" "00209417" "05099" "00209418" "05099" "00209419" "05099" "00209420" "05099" "00209421" "05099" "00209422" "05099" "00209423" "05099" "00209424" "05099" "00209425" "05099" "00209426" "05099" "00209427" "00198" "00209428" "00198" "00209429" "00198" "00209430" "00198" "00209431" "00198" "00209432" "00198" "00209433" "05099" "00209434" "05099" "00209435" "05099" "00209436" "05099" "00209437" "05099" "00209438" "05099" "00209439" "05099" "00209440" "05099" "00209441" "05158" "00209442" "05158" "00209443" "00352" "00209444" "00198" "00209445" "00198" "00209446" "00198" "00209447" "00198" "00209448" "00198" "00209449" "00198" "00209450" "00198" "00209451" "00198" "00209452" "00198" "00209453" "00198" "00209454" "00198" "00209455" "00198" "00209456" "00198" "00209457" "00198" "00209458" "00198" "00209459" "00198" "00209460" "00198" "00209461" "00198" "00209462" "00198" "00209463" "00198" "00209464" "00198" "00209465" "00198" "00209466" "00198" "00209467" "00198" "00209468" "00198" "00209469" "00198" "00209470" "00198" "00209471" "00198" "00209472" "00198" "00209473" "00198" "00209474" "00198" "00209475" "00198" "00209476" "00198" "00209477" "00198" "00209478" "00198" "00209479" "00198" "00209480" "00198" "00209481" "00198" "00209482" "00198" "00209483" "00198" "00209484" "00198" "00209485" "00198" "00209486" "00198" "00209487" "00198" "00209488" "00198" "00209489" "00198" "00209490" "00198" "00209491" "00198" "00209492" "00198" "00209493" "00198" "00209494" "00198" "00209495" "00198" "00209496" "00198" "00209497" "00198" "00209498" "00198" "00209499" "00198" "00209500" "00198" "00209501" "00198" "00209502" "00198" "00209503" "00198" "00209504" "00198" "00209505" "00198" "00209506" "00198" "00209507" "00198" "00209508" "00198" "00209509" "00198" "00209510" "00198" "00209511" "00198" "00209512" "00198" "00209513" "00198" "00209514" "00198" "00209515" "00198" "00209516" "00198" "00209517" "00198" "00209518" "00198" "00209519" "00198" "00209520" "00198" "00209521" "00198" "00209522" "00198" "00209523" "00198" "00209524" "00198" "00209525" "00198" "00209526" "00198" "00209527" "00198" "00209528" "00198" "00209529" "00198" "00209530" "00198" "00209531" "00198" "00209532" "00198" "00209533" "00198" "00209534" "00198" "00209535" "00198" "00209536" "00198" "00209537" "00198" "00209538" "00198" "00209539" "00198" "00209540" "00198" "00209541" "00198" "00209542" "00198" "00209543" "00198" "00209544" "00198" "00209545" "00198" "00209546" "00198" "00209547" "00198" "00209548" "00198" "00209549" "00198" "00209550" "00198" "00209551" "00198" "00209552" "00198" "00209553" "00198" "00209554" "00198" "00209555" "00198" "00209556" "00198" "00209557" "00198" "00209558" "00198" "00209559" "00198" "00209560" "00198" "00209561" "00198" "00209562" "00198" "00209563" "00198" "00209564" "00198" "00209565" "00198" "00209566" "00198" "00209780" "05099" "00209987" "05099" "00209988" "05099" "00209991" "05099" "00209992" "05099" "00228165" "00352" "00247313" "00352" "00294183" "00198" "00294184" "00198" "00294185" "00198" "00294186" "00198" "00294187" "00198" "00294188" "00198" "00294189" "00198" "00294190" "00198" "00294192" "00198" "00294193" "00198" "00294195" "00198" "00294196" "00198" "00294197" "00198" "00294199" "00198" "00294203" "00198" "00294204" "00198" "00295211" "00198" "00295352" "00198" "00295473" "00198" "00296711" "00198" "00305117" "00198" "00305347" "00946" "00305348" "05384" "00305349" "02478" "00305350" "01692" "00305351" "00000" "00316827" "04172" "00316828" "04172" "00316829" "04172" "00316830" "04172" "00316831" "04172" "00316832" "04172" "00316833" "04172" "00316834" "04172" "00316835" "04172" "00316836" "04172" "00316837" "04172" "00316838" "04172" "00316839" "04172" "00316840" "04172" "00316841" "04172" "00316842" "04172" "00316843" "04172" "00316844" "04172" "00316845" "04172" "00316846" "04172" "00316847" "04172" "00316848" "04172" "00316849" "04172" "00316982" "04172" "00316983" "04172" "00316984" "04172" "00316985" "04172" "00316986" "04172" "00316987" "04172" "00316988" "04172" "00316989" "04172" "00316990" "04172" "00316991" "04172" "00316992" "04172" "00316993" "04172" "00316994" "04172" "00316995" "04172" "00316996" "04172" "00316997" "04172" "00316998" "04172" "00316999" "04172" "00317000" "04172" "00317001" "04172" "00317002" "04172" "00317003" "04172" "00317004" "04172" "00317005" "04172" "00317006" "04172" "00317007" "04172" "00317008" "04172" "00317009" "04172" "00317010" "04172" "00317011" "04172" "00317012" "04172" "00317013" "04172" "00317014" "04172" "00317015" "04172" "00317016" "04172" "00317017" "04172" "00317018" "04172" "00317019" "04172" "00317020" "04172" "00317021" "04172" "00317022" "04172" "00317023" "04172" "00317732" "04172" "00317733" "04172" "00317734" "04172" "00317735" "04172" "00317736" "04172" "00317737" "04172" "00317738" "04172" "00317739" "04172" "00320290" "04172" "00376409" "00352" "00376423" "00352" "00376439" "00352" "00417651" "00352" "00417675" "05158" "00417685" "00352" "00418362" "00139" "00424916" "05099" "00433142" "05292" "00446778" "04173" "00446790" "04173" "00446791" "04173" "00446793" "04173" "00446814" "04173" "00446818" "04173" "00446839" "04173" "00446878" "04173" "00453150" "04172" "00453175" "04172" "00453176" "04172" "00453177" "04172" "00453178" "04172" "00461012" "00198" "00461019" "00198" "00465782" "05158" "00465783" "04172" "00465784" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00351, 00352, 00946, 01692, 02087, 02478, 02560, 02656, 02687, 02868, 03202, 04170, 04172, 04173, 04453, 05099, 05158, 05166, 05292, 05384 ## Count = 400 "{{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}}" "0000017592" "00139" "00019861" "00705" "Unknown" "?" "neonatal feeding problems, hip dysplasia, ID (IQ 50), autism, epicanthic folds, straight eyebrows, posteriorly rotated ears and downturned corners of the mouth; MRI of brain not available; no epilepsy" "" "" "" "" "" "" "" "" "" "" "" "0000050550" "05158" "00064032" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050584" "00351" "00064068" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050596" "00351" "00064080" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050603" "00351" "00064087" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050611" "00351" "00064095" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050615" "00351" "00064099" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050626" "00351" "00064110" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050631" "00351" "00064115" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050639" "00351" "00064123" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050643" "00351" "00064127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050650" "00351" "00064134" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050651" "00351" "00064135" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050658" "00351" "00064142" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050673" "00351" "00064157" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050679" "00351" "00064163" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050680" "00351" "00064164" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050681" "00351" "00064165" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050684" "00351" "00064168" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050685" "00351" "00064169" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050690" "00351" "00064174" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050699" "00351" "00064183" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050702" "00351" "00064186" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050704" "00351" "00064188" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050705" "00351" "00064189" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050708" "00351" "00064192" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050713" "00351" "00064197" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050726" "00351" "00064210" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050736" "00351" "00064220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050738" "00351" "00064222" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050784" "00351" "00064268" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050785" "00351" "00064269" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050786" "00351" "00064270" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050787" "00351" "00064271" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050788" "00351" "00064272" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050922" "02087" "00064763" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051240" "02087" "00065135" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000053232" "05166" "00064704" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053260" "05166" "00064734" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053261" "05166" "00064735" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000100579" "00198" "00128363" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100600" "00198" "00128384" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100609" "00198" "00128393" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100615" "00198" "00128399" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100623" "00198" "00128407" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100641" "00198" "00128422" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100642" "00198" "00128423" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100644" "00198" "00128425" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100647" "00198" "00128428" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100658" "00198" "00128439" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100669" "00198" "00128450" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100677" "00198" "00128456" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100682" "00198" "00128460" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100700" "00198" "00128478" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100714" "00198" "00128490" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000116539" "05099" "00143769" "02335" "Familial" "51y" "suspected ARVD/C" "" "" "" "" "" "" "" "" "" "" "" "0000128979" "00352" "00163867" "02438" "Familial, autosomal dominant" "55y" "mitral regurgitation (HP:0001653)" "" "50y" "" "" "" "" "" "" "" "" "" "0000157929" "00198" "00209330" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157930" "05099" "00209331" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157931" "05099" "00209332" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157932" "05099" "00209333" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157933" "05099" "00209334" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157934" "05099" "00209335" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157935" "05099" "00209336" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157936" "05099" "00209337" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157937" "00198" "00209338" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157938" "04172" "00209339" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "" "left-dominant arrhythmogenic cardiomyopathy" "" "0000157939" "05099" "00209340" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157940" "04172" "00209341" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "" "left-dominant arrhythmogenic cardiomyopathy" "" "0000157941" "05099" "00209342" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157942" "04172" "00209343" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "" "left-dominant arrhythmogenic cardiomyopathy" "" "0000157943" "05099" "00209344" "00802" "Unknown" "" "left-sided ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "0000157944" "04172" "00209345" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "" "left-dominant arrhythmogenic cardiomyopathy" "" "0000157945" "00352" "00209346" "00802" "Unknown" "" "Carvajal syndrome, cardiomyopathy" "" "" "" "" "" "" "" "" "DCWHK" "Carvajal syndrome" "" "0000157946" "00198" "00209347" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157947" "00198" "00209348" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157948" "04172" "00209349" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "" "left-dominant arrhythmogenic cardiomyopathy" "" "0000157949" "04172" "00209350" "00802" "Unknown" "" "left-dominant arrhythmogenic cardiomyopathy" "" "" "" "" "" "" "" "" "" "left-dominant arrhythmogenic cardiomyopathy" "" "0000157950" "05099" "00209351" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157951" "00352" "00209352" "00802" "Unknown" "" "Carvajal syndrome" "" "" "" "" "" "" "" "" "DCWHK" "Carvajal syndrome" "" "0000157952" "00198" "00209353" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157953" "00198" "00209354" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157954" "00198" "00209355" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157955" "00198" "00209356" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157956" "05099" "00209357" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157957" "05099" "00209358" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive, severe phenotype" "" "" "" "" "" "" "" "" "ARVD" "ARVD/C" "" "0000157958" "00198" "00209359" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157959" "00198" "00209360" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157960" "05099" "00209361" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157961" "00198" "00209362" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157962" "00352" "00209363" "00802" "Unknown" "" "Carvajal syndrome" "" "" "" "" "" "" "" "" "DCWHK" "Carvajal syndrome" "" "0000157963" "00198" "00209364" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157964" "00352" "00209365" "00802" "Unknown" "" "Carvajal syndrome" "" "" "" "" "" "" "" "" "DCWHK" "Carvajal syndrome" "" "0000157965" "05099" "00209366" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157966" "00198" "00209367" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157967" "05099" "00209368" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000157968" "00198" "00209369" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157969" "00198" "00209370" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157970" "00198" "00209371" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157971" "00198" "00209372" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157972" "00198" "00209373" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157973" "00198" "00209374" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157974" "00198" "00209375" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157975" "00198" "00209376" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157976" "00198" "00209377" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157977" "00198" "00209378" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157978" "00198" "00209379" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157979" "00198" "00209380" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157980" "00198" "00209381" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157981" "00198" "00209382" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157982" "00198" "00209383" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157983" "00198" "00209384" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157984" "00198" "00209385" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157985" "00198" "00209386" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157986" "00198" "00209387" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157987" "00198" "00209388" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157988" "00198" "00209389" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157989" "00198" "00209390" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157990" "00198" "00209391" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157991" "00198" "00209392" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157992" "00198" "00209393" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157993" "00198" "00209394" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157994" "00198" "00209395" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157995" "00198" "00209396" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157996" "00198" "00209397" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157997" "00198" "00209398" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157998" "00198" "00209399" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000157999" "00198" "00209400" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158000" "00198" "00209401" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158001" "00198" "00209402" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158002" "00198" "00209403" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158003" "00198" "00209404" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158004" "00198" "00209405" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158005" "00198" "00209406" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158006" "00198" "00209407" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158007" "00352" "00209408" "00802" "Unknown" "" "Carvajal syndrome" "" "" "" "" "" "" "" "" "DCWHK" "Carvajal syndrome" "" "0000158008" "05099" "00209409" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158009" "05099" "00209410" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158010" "05099" "00209411" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158011" "05099" "00209412" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158012" "04172" "00209413" "00802" "Unknown" "" "cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000158013" "05099" "00209414" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158014" "05099" "00209415" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158015" "05099" "00209416" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158016" "05099" "00209417" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158017" "05099" "00209418" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158018" "05099" "00209419" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158019" "05099" "00209420" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158020" "05099" "00209421" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158021" "05099" "00209422" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158022" "05099" "00209423" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158023" "05099" "00209424" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158024" "05099" "00209425" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158025" "05099" "00209426" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158026" "00198" "00209427" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158027" "00198" "00209428" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158028" "00198" "00209429" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158029" "00198" "00209430" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158030" "00198" "00209431" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158031" "00198" "00209432" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158032" "05099" "00209433" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158033" "05099" "00209434" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158034" "05099" "00209435" "00802" "Unknown" "" "see paper; ARVD/C, Task Force Criteria positive, ..." "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158035" "05099" "00209436" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158036" "05099" "00209437" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158037" "05099" "00209438" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158038" "05099" "00209439" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158039" "05099" "00209440" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-8" "ARVD/C" "" "0000158040" "05158" "00209441" "03133" "Unknown" "" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "" "" "" "ARVD-8" "arrhythmogenic right ventricular cardiomyopathy" "" "0000158041" "05158" "00209442" "03133" "Unknown" "" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "" "" "" "ARVD-8" "arrhythmogenic right ventricular cardiomyopathy" "" "0000158042" "00352" "00209443" "03133" "Unknown" "" "Carvajal syndrome" "" "" "" "" "" "" "" "" "DCWHK" "Carvajal syndrome" "" "0000158043" "00198" "00209444" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158044" "00198" "00209445" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158045" "00198" "00209446" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158046" "00198" "00209447" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158047" "00198" "00209448" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158048" "00198" "00209449" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158049" "00198" "00209450" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158050" "00198" "00209451" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158051" "00198" "00209452" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158052" "00198" "00209453" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158053" "00198" "00209454" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158054" "00198" "00209455" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158055" "00198" "00209456" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158056" "00198" "00209457" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158057" "00198" "00209458" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158058" "00198" "00209459" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158059" "00198" "00209460" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158060" "00198" "00209461" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158061" "00198" "00209462" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158062" "00198" "00209463" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158063" "00198" "00209464" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158064" "00198" "00209465" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158065" "00198" "00209466" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158066" "00198" "00209467" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158067" "00198" "00209468" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158068" "00198" "00209469" "00802" "Familial, autosomal dominant" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158069" "00198" "00209470" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158070" "00198" "00209471" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158071" "00198" "00209472" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158072" "00198" "00209473" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158073" "00198" "00209474" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158074" "00198" "00209475" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158075" "00198" "00209476" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158076" "00198" "00209477" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158077" "00198" "00209478" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158078" "00198" "00209479" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158079" "00198" "00209480" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158080" "00198" "00209481" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158081" "00198" "00209482" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158082" "00198" "00209483" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158083" "00198" "00209484" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158084" "00198" "00209485" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158085" "00198" "00209486" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158086" "00198" "00209487" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158087" "00198" "00209488" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158088" "00198" "00209489" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158089" "00198" "00209490" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158090" "00198" "00209491" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158091" "00198" "00209492" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158092" "00198" "00209493" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158093" "00198" "00209494" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158094" "00198" "00209495" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158095" "00198" "00209496" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158096" "00198" "00209497" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158097" "00198" "00209498" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158098" "00198" "00209499" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158099" "00198" "00209500" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158100" "00198" "00209501" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158101" "00198" "00209502" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158102" "00198" "00209503" "00802" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158103" "00198" "00209504" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158104" "00198" "00209505" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158105" "00198" "00209506" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158106" "00198" "00209507" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158107" "00198" "00209508" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158108" "00198" "00209509" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158109" "00198" "00209510" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158110" "00198" "00209511" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158111" "00198" "00209512" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158112" "00198" "00209513" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158113" "00198" "00209514" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158114" "00198" "00209515" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158115" "00198" "00209516" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158116" "00198" "00209517" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158117" "00198" "00209518" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158118" "00198" "00209519" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158119" "00198" "00209520" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158120" "00198" "00209521" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158121" "00198" "00209522" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158122" "00198" "00209523" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158123" "00198" "00209524" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158124" "00198" "00209525" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158125" "00198" "00209526" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158126" "00198" "00209527" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158127" "00198" "00209528" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158128" "00198" "00209529" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158129" "00198" "00209530" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158130" "00198" "00209531" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158131" "00198" "00209532" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158132" "00198" "00209533" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158133" "00198" "00209534" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158134" "00198" "00209535" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158135" "00198" "00209536" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158136" "00198" "00209537" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158137" "00198" "00209538" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158138" "00198" "00209539" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158139" "00198" "00209540" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158140" "00198" "00209541" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158141" "00198" "00209542" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158142" "00198" "00209543" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158143" "00198" "00209544" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158144" "00198" "00209545" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158145" "00198" "00209546" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158146" "00198" "00209547" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158147" "00198" "00209548" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158148" "00198" "00209549" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158149" "00198" "00209550" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158150" "00198" "00209551" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158151" "00198" "00209552" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158152" "00198" "00209553" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158153" "00198" "00209554" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158154" "00198" "00209555" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158155" "00198" "00209556" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158156" "00198" "00209557" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158157" "00198" "00209558" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158158" "00198" "00209559" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158159" "00198" "00209560" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158160" "00198" "00209561" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158161" "00198" "00209562" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158162" "00198" "00209563" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158163" "00198" "00209564" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158164" "00198" "00209565" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158165" "00198" "00209566" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158379" "05099" "00209780" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-9" "ARVD/C" "" "0000158586" "05099" "00209987" "00006" "Familial, autosomal dominant" "" "see paper; no woolly hairs, nopalmoplantar keratoderma, ..." "" "" "" "" "" "" "" "" "ARVD-10" "arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)" "" "0000158587" "05099" "00209988" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "ARVD-10" "arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D)" "" "0000158590" "05099" "00209991" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000158591" "05099" "00209992" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "ARVC" "" "0000172077" "00352" "00228165" "00006" "Familial" "43y" "see paper; ..., LVEF 0.10, NYHA IV, LVEDD 70, LVESD 63, FS 0.10, no ischemic heart disease" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, familial" "" "0000186691" "00352" "00247313" "02401" "Familial, autosomal dominant" "59y" "Dilated cardiomyopathy" "23y" "60y" "39y" "" "" "" "" "" "" "" "" "0000224111" "00198" "00296711" "00006" "Unknown" "46y" "dilated cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000231197" "00946" "00305347" "01164" "Unknown" "" "Proxysmal effort-induced dyskinesia (segmental in the area of the abdominal muscles), progressive movement disorder for about 8 months, semiologically more myocloniform than dyston - variant reported as secondary finding" "" "" "" "" "" "" "" "" "" "54y" "" "0000231198" "05384" "00305348" "01164" "Unknown" "" "Distal hereditary motor neuropathy; Motor polyneuropathy" "" "" "" "" "" "" "" "" "" "44y" "" "0000231199" "02478" "00305349" "01164" "Unknown" "47y" "Recurrent attacks of rotary vertigo, nausea, gait insecurity, partial tinnitus, no hearing loss, familial anamnesis Vestibular migraine, differential diagnosis: episodic ataxia type II; HPOs: Tinnitus, Nausea, Gait ataxia, Vertigo, Vestibular nystagmus" "" "" "" "" "" "" "" "" "" "" "" "0000231200" "01692" "00305350" "01164" "Unknown" "31y" "Rhabdomyolysis after fitness training, CK > 120000 U/l, declining, no muscle atrophies, no muscle pain; HPO´s: Exercise-induced rhabdomyolysis; Extremely elevated creatine kinase" "" "" "" "" "" "" "" "" "" "" "" "0000231201" "00000" "00305351" "01164" "Unknown" "" "thrombocytopathy" "" "" "" "" "" "" "" "" "" "" "" "0000240573" "04172" "00316827" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240574" "04172" "00316828" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240575" "04172" "00316829" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240576" "04172" "00316830" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240577" "04172" "00316831" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240578" "04172" "00316832" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240579" "04172" "00316833" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240580" "04172" "00316834" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240581" "04172" "00316835" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240582" "04172" "00316836" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240583" "04172" "00316837" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240584" "04172" "00316838" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240585" "04172" "00316839" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240586" "04172" "00316840" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240587" "04172" "00316841" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240588" "04172" "00316842" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240589" "04172" "00316843" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240590" "04172" "00316844" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240591" "04172" "00316845" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240592" "04172" "00316846" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240593" "04172" "00316847" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240594" "04172" "00316848" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240595" "04172" "00316849" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240728" "04172" "00316982" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240729" "04172" "00316983" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240730" "04172" "00316984" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240731" "04172" "00316985" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240732" "04172" "00316986" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240733" "04172" "00316987" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240734" "04172" "00316988" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240735" "04172" "00316989" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240736" "04172" "00316990" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240737" "04172" "00316991" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240738" "04172" "00316992" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240739" "04172" "00316993" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240740" "04172" "00316994" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240741" "04172" "00316995" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240742" "04172" "00316996" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240743" "04172" "00316997" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240744" "04172" "00316998" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240745" "04172" "00316999" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240746" "04172" "00317000" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240747" "04172" "00317001" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240748" "04172" "00317002" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240749" "04172" "00317003" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240750" "04172" "00317004" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240751" "04172" "00317005" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240752" "04172" "00317006" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240753" "04172" "00317007" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240754" "04172" "00317008" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240755" "04172" "00317009" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240756" "04172" "00317010" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240757" "04172" "00317011" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240758" "04172" "00317012" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240759" "04172" "00317013" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240760" "04172" "00317014" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240761" "04172" "00317015" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240762" "04172" "00317016" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240763" "04172" "00317017" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240764" "04172" "00317018" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240765" "04172" "00317019" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240766" "04172" "00317020" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240767" "04172" "00317021" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240768" "04172" "00317022" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240769" "04172" "00317023" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000241478" "04172" "00317732" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241479" "04172" "00317733" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241480" "04172" "00317734" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241481" "04172" "00317735" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241482" "04172" "00317736" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241483" "04172" "00317737" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241484" "04172" "00317738" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241485" "04172" "00317739" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000242318" "04172" "00320290" "00006" "Unknown" "27y" "see paper; ..., survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000271617" "00352" "00376409" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000271631" "00352" "00376423" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000271647" "00352" "00376439" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000309731" "00139" "00418362" "00006" "Isolated (sporadic)" "17y" "see paper; ..., intellectual disability, developmental delay, dysmorphism, non-compaction cardiomyopathy" "" "" "" "" "" "" "" "" "MRXS34" "intellectual disability" "" "0000316115" "05099" "00424916" "03069" "Familial, autosomal recessive" "13y06m" "" "15y" "15y" "" "" "" "" "" "" "ARVD-8" "15" "" "0000323668" "05292" "00433142" "00006" "Familial, autosomal recessive" "" "immuno-osseous dysplasia, chromosomal disorder and other syndromic primary immunodeficiency diseases" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" "0000335982" "04173" "00446778" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000335994" "04173" "00446790" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000335995" "04173" "00446791" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000335997" "04173" "00446793" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336018" "04173" "00446814" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336022" "04173" "00446818" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000336043" "04173" "00446839" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336082" "04173" "00446878" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341796" "04172" "00453150" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341821" "04172" "00453175" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341822" "04172" "00453176" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341823" "04172" "00453177" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341824" "04172" "00453178" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 433 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019852" "00019861" "1" "00705" "00705" "2014-09-08 10:27:49" "00006" "2014-11-07 21:46:41" "SEQ" "DNA" "" "" "0000029026" "00028985" "1" "00066" "00066" "2015-01-13 09:07:39" "" "" "SEQ-NG-S" "DNA" "" "" "0000029027" "00028986" "1" "00066" "00066" "2015-01-13 09:10:18" "" "" "SEQ-NG-S" "DNA" "" "" "0000029033" "00028992" "1" "00066" "00066" "2015-01-13 16:39:48" "" "" "SEQ-NG-S" "DNA" "" "" "0000064164" "00064032" "1" "00006" "00006" "2016-04-19 22:06:14" "" "" "SEQ" "DNA" "" "" "0000064201" "00064068" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064213" "00064080" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064220" "00064087" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064228" "00064095" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064232" "00064099" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064243" "00064110" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064248" "00064115" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064256" "00064123" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064260" "00064127" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064267" "00064134" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064268" "00064135" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064275" "00064142" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064290" "00064157" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064296" "00064163" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064297" "00064164" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064298" "00064165" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064301" "00064168" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064302" "00064169" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064307" "00064174" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064316" "00064183" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064319" "00064186" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064321" "00064188" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064322" "00064189" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064325" "00064192" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064330" "00064197" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064343" "00064210" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064353" "00064220" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064355" "00064222" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064401" "00064268" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064402" "00064269" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064403" "00064270" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064404" "00064271" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064405" "00064272" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000064843" "00064704" "1" "01601" "01601" "2016-05-10 11:11:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000064873" "00064734" "1" "01601" "01601" "2016-05-10 12:44:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000064874" "00064735" "1" "01601" "01601" "2016-05-10 12:46:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000064904" "00064763" "1" "01602" "01602" "2016-05-11 15:03:10" "01602" "2016-05-19 13:27:26" "SEQ-NG-I" "DNA" "" "" "0000065286" "00065135" "1" "01602" "01602" "2016-05-19 13:46:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000128830" "00128363" "1" "02244" "02244" "2017-09-15 14:17:20" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129222" "00128384" "1" "02244" "02244" "2017-09-15 15:06:25" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129231" "00128393" "1" "02244" "02244" "2017-09-15 15:27:40" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129237" "00128399" "1" "02244" "02244" "2017-09-15 15:39:41" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129245" "00128407" "1" "02244" "02244" "2017-09-15 15:56:46" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129260" "00128422" "1" "02244" "02244" "2017-09-15 16:41:07" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129261" "00128423" "1" "02244" "02244" "2017-09-15 16:43:33" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129263" "00128425" "1" "02244" "02244" "2017-09-15 16:46:35" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129266" "00128428" "1" "02244" "02244" "2017-09-15 16:51:44" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129277" "00128439" "1" "02244" "02244" "2017-09-15 17:11:50" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129288" "00128450" "1" "02244" "02244" "2017-09-15 17:37:10" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129294" "00128456" "1" "02244" "02244" "2017-09-15 17:55:52" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129298" "00128460" "1" "02244" "02244" "2017-09-15 18:03:33" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129316" "00128478" "1" "02244" "02244" "2017-09-15 18:44:46" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129328" "00128490" "1" "02244" "02244" "2017-09-15 19:08:00" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000144628" "00143769" "1" "02335" "02335" "2017-12-05 13:09:59" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000164731" "00163867" "1" "02438" "02438" "2018-04-22 16:58:30" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "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" "" "" "0000210387" "00209330" "1" "00802" "00802" "2009-01-23 11:31:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210388" "00209331" "1" "00802" "00802" "2009-01-26 15:46:40" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210389" "00209332" "1" "00802" "00802" "2009-01-26 15:50:23" "00802" "2010-02-05 14:12:12" "SEQ" "DNA" "" "" "0000210390" "00209333" "1" "00802" "00802" "2009-01-26 15:54:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210391" "00209334" "1" "00802" "00802" "2009-01-26 16:02:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210392" "00209335" "1" "00802" "00802" "2009-01-26 16:04:34" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210393" "00209336" "1" "00802" "00802" "2009-01-26 16:07:11" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210394" "00209337" "1" "00802" "00802" "2009-01-26 16:23:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210395" "00209338" "1" "00802" "00802" "2009-01-26 16:26:06" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210396" "00209339" "1" "00802" "00802" "2009-01-26 16:28:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210397" "00209340" "1" "00802" "00802" "2009-01-27 10:59:28" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210398" "00209341" "1" "00802" "00802" "2009-01-27 11:01:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210399" "00209342" "1" "00802" "00802" "2009-01-27 11:06:00" "00802" "2010-02-05 14:33:54" "SEQ" "DNA" "" "" "0000210400" "00209343" "1" "00802" "00802" "2009-01-27 11:09:43" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210401" "00209344" "1" "00802" "00802" "2009-01-27 14:04:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210402" "00209345" "1" "00802" "00802" "2009-01-27 14:06:17" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210403" "00209346" "1" "00802" "00802" "2009-01-27 14:19:09" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210404" "00209347" "1" "00802" "00802" "2009-01-27 14:44:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210405" "00209348" "1" "00802" "00802" "2009-01-27 14:46:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210406" "00209349" "1" "00802" "00802" "2009-01-27 14:53:29" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210407" "00209350" "1" "00802" "00802" "2009-01-27 14:58:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210408" "00209351" "1" "00802" "00802" "2009-01-27 15:04:41" "00802" "2010-02-05 14:37:21" "SEQ" "DNA" "" "" "0000210409" "00209352" "1" "00802" "00802" "2009-01-27 15:07:56" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210410" "00209353" "1" "00802" "00802" "2009-01-27 15:10:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210411" "00209354" "1" "00802" "00802" "2009-01-27 15:21:30" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210412" "00209355" "1" "00802" "00802" "2009-01-27 15:22:49" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210413" "00209356" "1" "00802" "00802" "2009-01-27 15:34:46" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210414" "00209357" "1" "00802" "00802" "2009-01-27 15:45:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210415" "00209358" "1" "00802" "00802" "2009-01-28 11:16:24" "00802" "2010-02-05 15:05:22" "SEQ" "DNA" "" "" "0000210416" "00209359" "1" "00802" "00802" "2009-01-28 11:18:04" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210417" "00209360" "1" "00802" "00802" "2009-01-28 11:22:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210418" "00209361" "1" "00802" "00802" "2009-01-28 11:23:29" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210419" "00209362" "1" "00802" "00802" "2009-01-28 12:02:38" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210420" "00209363" "1" "00802" "00802" "2009-01-28 12:09:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210421" "00209364" "1" "00802" "00802" "2009-01-28 12:14:34" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210422" "00209365" "1" "00802" "00802" "2009-01-28 13:55:00" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210423" "00209366" "1" "00802" "00802" "2009-01-28 13:59:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210424" "00209367" "1" "00802" "00802" "2009-01-28 14:13:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210425" "00209368" "1" "00802" "00802" "2009-01-28 14:16:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210426" "00209369" "1" "00802" "00802" "2009-01-28 14:18:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210427" "00209370" "1" "00802" "00802" "2009-02-23 15:06:22" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210428" "00209371" "1" "00802" "00802" "2009-02-23 15:07:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210429" "00209372" "1" "00802" "00802" "2009-02-23 15:08:36" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210430" "00209373" "1" "00802" "00802" "2009-02-23 15:10:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210431" "00209374" "1" "00802" "00802" "2009-02-23 15:10:38" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210432" "00209375" "1" "00802" "00802" "2009-02-23 15:11:17" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210433" "00209376" "1" "00802" "00802" "2009-02-23 15:12:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210434" "00209377" "1" "00802" "00802" "2009-02-23 15:14:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210435" "00209378" "1" "00802" "00802" "2009-02-23 15:15:06" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210436" "00209379" "1" "00802" "00802" "2009-02-23 15:17:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210437" "00209380" "1" "00802" "00802" "2009-02-23 15:18:18" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210438" "00209381" "1" "00802" "00802" "2009-02-23 15:20:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210439" "00209382" "1" "00802" "00802" "2009-02-23 15:21:52" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210440" "00209383" "1" "00802" "00802" "2009-02-23 15:22:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210441" "00209384" "1" "00802" "00802" "2009-02-23 15:27:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210442" "00209385" "1" "00802" "00802" "2009-02-23 15:31:37" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210443" "00209386" "1" "00802" "00802" "2009-02-23 15:32:46" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210444" "00209387" "1" "00802" "00802" "2009-02-23 15:33:20" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210445" "00209388" "1" "00802" "00802" "2009-02-23 15:33:53" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210446" "00209389" "1" "00802" "00802" "2009-02-23 15:37:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210447" "00209390" "1" "00802" "00802" "2009-02-23 15:45:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210448" "00209391" "1" "00802" "00802" "2009-02-23 15:46:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210449" "00209392" "1" "00802" "00802" "2009-02-23 15:48:27" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210450" "00209393" "1" "00802" "00802" "2009-02-23 15:50:00" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210451" "00209394" "1" "00802" "00802" "2009-02-23 15:51:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210452" "00209395" "1" "00802" "00802" "2009-02-23 15:52:33" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210453" "00209396" "1" "00802" "00802" "2009-02-23 15:54:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210454" "00209397" "1" "00802" "00802" "2009-02-23 15:56:11" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210455" "00209398" "1" "00802" "00802" "2009-02-23 16:00:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210456" "00209399" "1" "00802" "00802" "2009-02-23 16:02:13" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210457" "00209400" "1" "00802" "00802" "2009-02-23 16:03:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210458" "00209401" "1" "00802" "00802" "2009-02-23 16:06:07" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210459" "00209402" "1" "00802" "00802" "2009-02-23 16:07:43" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210460" "00209403" "1" "00802" "00802" "2009-02-23 16:08:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210461" "00209404" "1" "00802" "00802" "2009-02-23 16:10:18" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210462" "00209405" "1" "00802" "00802" "2009-02-23 16:11:18" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210463" "00209406" "1" "00802" "00802" "2009-02-23 16:12:15" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210464" "00209407" "1" "00802" "00802" "2009-02-23 16:13:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210465" "00209408" "1" "00802" "00802" "2009-03-09 11:08:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210466" "00209409" "1" "00802" "00802" "2009-03-13 16:07:58" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210467" "00209410" "1" "00802" "00802" "2009-03-13 16:09:30" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210468" "00209411" "1" "00802" "00802" "2009-03-13 16:10:58" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210469" "00209412" "1" "00802" "00802" "2009-04-29 13:13:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210470" "00209413" "1" "00802" "00802" "2009-06-03 10:34:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210471" "00209414" "1" "00802" "00802" "2009-06-17 15:48:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210472" "00209415" "1" "00802" "00802" "2009-06-17 15:55:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210473" "00209416" "1" "00802" "00802" "2009-06-17 15:58:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210474" "00209417" "1" "00802" "00802" "2009-06-18 10:23:20" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210475" "00209418" "1" "00802" "00802" "2009-06-18 10:32:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210476" "00209419" "1" "00802" "00802" "2009-06-18 10:41:44" "00802" "2010-03-11 09:19:58" "SEQ" "DNA" "" "" "0000210477" "00209420" "1" "00802" "00802" "2009-06-18 10:43:33" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210478" "00209421" "1" "00802" "00802" "2009-06-18 10:46:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210479" "00209422" "1" "00802" "00802" "2009-06-18 10:49:15" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210480" "00209423" "1" "00802" "00802" "2009-06-18 10:54:00" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210481" "00209424" "1" "00802" "00802" "2009-06-18 12:31:19" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210482" "00209425" "1" "00802" "00802" "2009-06-18 12:51:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210483" "00209426" "1" "00802" "00802" "2009-06-18 16:13:56" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210484" "00209427" "1" "00802" "00802" "2009-06-18 16:15:34" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210485" "00209428" "1" "00802" "00802" "2009-07-28 12:30:06" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210486" "00209429" "1" "00802" "00802" "2009-07-28 12:32:16" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210487" "00209430" "1" "00802" "00802" "2009-07-28 12:35:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210488" "00209431" "1" "00802" "00802" "2009-07-28 12:36:56" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210489" "00209432" "1" "00802" "00802" "2009-07-28 12:38:38" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210490" "00209433" "1" "00802" "00802" "2009-09-01 11:19:54" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210491" "00209434" "1" "00802" "00802" "2009-11-03 16:14:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210492" "00209435" "1" "00802" "00802" "2010-02-05 14:15:57" "" "" "SEQ" "DNA" "" "" "0000210493" "00209436" "1" "00802" "00802" "2010-02-05 14:19:21" "" "" "SEQ" "DNA" "" "" "0000210494" "00209437" "1" "00802" "00802" "2010-02-05 14:31:21" "" "" "SEQ" "DNA" "" "" "0000210495" "00209438" "1" "00802" "00802" "2010-02-05 14:36:01" "" "" "SEQ" "DNA" "" "" "0000210496" "00209439" "1" "00802" "00802" "2010-02-05 14:44:18" "" "" "SEQ" "DNA" "" "" "0000210497" "00209440" "1" "00802" "00802" "2010-03-11 09:28:41" "" "" "SEQ" "DNA" "" "" "0000210498" "00209441" "1" "03133" "00802" "2013-01-04 13:14:28" "" "" "SEQ" "DNA" "" "" "0000210499" "00209442" "1" "03133" "00802" "2013-01-04 13:17:17" "" "" "SEQ" "DNA" "" "" "0000210500" "00209443" "1" "03133" "00802" "2013-01-04 13:21:01" "" "" "SEQ" "DNA" "" "" "0000210501" "00209444" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210502" "00209445" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210503" "00209446" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210504" "00209447" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210505" "00209448" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210506" "00209449" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210507" "00209450" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210508" "00209451" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210509" "00209452" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210510" "00209453" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210511" "00209454" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210512" "00209455" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210513" "00209456" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210514" "00209457" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210515" "00209458" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210516" "00209459" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210517" "00209460" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210518" "00209461" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210519" "00209462" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210520" "00209463" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210521" "00209464" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210522" "00209465" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210523" "00209466" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210524" "00209467" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210525" "00209468" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210526" "00209469" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210527" "00209470" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210528" "00209471" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210529" "00209472" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210530" "00209473" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210531" "00209474" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210532" "00209475" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210533" "00209476" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210534" "00209477" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210535" "00209478" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210536" "00209479" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210537" "00209480" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210538" "00209481" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210539" "00209482" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210540" "00209483" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210541" "00209484" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210542" "00209485" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210543" "00209486" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210544" "00209487" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210545" "00209488" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210546" "00209489" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210547" "00209490" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210548" "00209491" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210549" "00209492" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210550" "00209493" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210551" "00209494" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210552" "00209495" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210553" "00209496" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210554" "00209497" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210555" "00209498" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210556" "00209499" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210557" "00209500" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210558" "00209501" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210559" "00209502" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210560" "00209503" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210561" "00209504" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210562" "00209505" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210563" "00209506" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210564" "00209507" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210565" "00209508" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210566" "00209509" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210567" "00209510" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210568" "00209511" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210569" "00209512" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210570" "00209513" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210571" "00209514" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210572" "00209515" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210573" "00209516" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210574" "00209517" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210575" "00209518" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210576" "00209519" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210577" "00209520" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210578" "00209521" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210579" "00209522" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210580" "00209523" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210581" "00209524" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210582" "00209525" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210583" "00209526" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210584" "00209527" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210585" "00209528" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210586" "00209529" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210587" "00209530" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210588" "00209531" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210589" "00209532" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210590" "00209533" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210591" "00209534" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210592" "00209535" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210593" "00209536" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210594" "00209537" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210595" "00209538" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210596" "00209539" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210597" "00209540" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210598" "00209541" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210599" "00209542" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210600" "00209543" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210601" "00209544" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210602" "00209545" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210603" "00209546" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210604" "00209547" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210605" "00209548" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210606" "00209549" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210607" "00209550" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210608" "00209551" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210609" "00209552" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210610" "00209553" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210611" "00209554" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210612" "00209555" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210613" "00209556" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210614" "00209557" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210615" "00209558" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210616" "00209559" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210617" "00209560" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210618" "00209561" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210619" "00209562" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210620" "00209563" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210621" "00209564" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" "0000210622" "00209565" "1" "00802" "00802" "2014-10-15 16:37:48" "" "" "SEQ" "DNA" "" "" 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19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295361" "00294193" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295363" "00294195" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295364" "00294196" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295365" "00294197" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295367" "00294199" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295371" "00294203" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295372" "00294204" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" 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"" "0000306480" "00305351" "1" "01164" "01164" "2020-06-24 14:05:48" "" "" "SEQ-NG-I" "DNA" "" "" "0000318009" "00316827" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318010" "00316828" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318011" "00316829" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318012" "00316830" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318013" "00316831" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318014" "00316832" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318015" "00316833" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318016" "00316834" "1" "00006" "00006" 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15:41:53" "" "" "SEQ-NG" "DNA" "" "" "0000448353" "00446778" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448365" "00446790" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448366" "00446791" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448368" "00446793" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448389" "00446814" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448393" "00446818" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448414" "00446839" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448453" "00446878" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454761" "00453150" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454786" "00453175" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454787" "00453176" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454788" "00453177" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454789" "00453178" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000462644" "00461012" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000462651" "00461019" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000467433" "00465782" "1" "03236" "00006" "2019-03-25 10:03:00" "" "" "SEQ;SEQ-NG" "DNA" "necropsy" "sudden cardiac death" "0000467434" "00465783" "1" "03236" "00006" "2019-03-25 10:03:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467435" "00465784" "1" "03236" "00006" "2019-03-25 10:03:00" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 398 "{{screeningid}}" "{{geneid}}" "0000019852" "DSP" "0000019852" "PTPN21" "0000019852" "SPTAN1" "0000064164" "DSP" "0000064164" "PKP2" "0000064201" "TTN" "0000064213" "TTN" "0000064220" "TTN" "0000064228" "TTN" "0000064232" "TTN" "0000064243" "TTN" "0000064248" "TTN" "0000064256" "TTN" "0000064260" "TTN" "0000064267" "TTN" "0000064268" "TTN" "0000064275" "TTN" "0000064290" "TTN" "0000064296" "TTN" "0000064297" "TTN" "0000064298" "TTN" "0000064301" "TTN" "0000064302" "TTN" "0000064307" "TTN" "0000064316" "TTN" "0000064319" "TTN" "0000064321" "TTN" "0000064322" "TTN" "0000064325" "TTN" "0000064330" "TTN" "0000064343" "TTN" "0000064353" "TTN" "0000064355" "TTN" "0000064401" "DSP" "0000064402" "DSP" "0000064403" "DSP" "0000064404" "DSP" "0000064405" "DSP" "0000144628" "DSP" "0000144628" "JUP" "0000144628" "PKP2" "0000210309" "DSG2" "0000210309" "DSP" "0000210310" "DSG2" "0000210310" "DSP" "0000210387" "DSP" "0000210388" "DSP" "0000210389" "DSP" "0000210390" "DSP" "0000210391" "DSP" "0000210392" "DSP" "0000210393" "DSP" "0000210394" "DSP" "0000210395" "DSP" "0000210396" "DSP" "0000210397" "DSP" "0000210398" "DSP" "0000210399" "DSP" "0000210400" "DSP" "0000210401" "DSP" "0000210402" "DSP" "0000210403" "DSP" "0000210404" "DSP" "0000210405" "DSP" "0000210406" "DSP" "0000210407" "DSP" "0000210408" "DSP" "0000210409" "DSP" "0000210410" "DSP" "0000210411" "DSP" "0000210412" "DSP" "0000210413" "DSP" "0000210414" "DSP" "0000210415" "DSP" "0000210416" "DSP" "0000210417" "DSP" "0000210418" "DSP" "0000210419" "DSP" "0000210420" "DSP" "0000210421" "DSP" "0000210422" "DSP" "0000210423" "DSP" "0000210424" "DSP" "0000210425" "DSP" "0000210426" "DSP" "0000210427" "DSP" "0000210428" "DSP" "0000210429" "DSP" "0000210430" "DSP" "0000210431" "DSP" "0000210432" "DSP" "0000210433" "DSP" "0000210434" "DSP" "0000210435" "DSP" "0000210436" "DSP" "0000210437" "DSP" "0000210438" "DSP" "0000210439" "DSP" "0000210440" "DSP" "0000210441" "DSP" "0000210442" "DSP" "0000210443" "DSP" "0000210444" "DSP" "0000210445" "DSP" "0000210446" "DSP" "0000210447" "DSP" "0000210448" "DSP" "0000210449" "DSP" "0000210450" "DSP" "0000210451" "DSP" "0000210452" "DSP" "0000210453" "DSP" "0000210454" "DSP" "0000210455" "DSP" "0000210456" "DSP" "0000210457" "DSP" "0000210458" "DSP" "0000210459" "DSP" "0000210460" "DSP" "0000210461" "DSP" "0000210462" "DSP" "0000210463" "DSP" "0000210464" "DSP" "0000210465" "DSP" "0000210466" "DSP" "0000210467" "DSP" "0000210468" "DSP" "0000210469" "DSP" "0000210470" "DSP" "0000210471" "DSP" "0000210472" "DSP" "0000210473" "DSP" "0000210474" "DSP" "0000210475" "DSP" "0000210476" "DSP" "0000210477" "DSP" "0000210478" "DSP" "0000210479" "DSP" "0000210480" "DSP" "0000210481" "DSP" "0000210482" "DSP" "0000210483" "DSP" "0000210484" "DSP" "0000210485" "DSP" "0000210486" "DSP" "0000210487" "DSP" "0000210488" "DSP" "0000210489" "DSP" "0000210490" "DSP" "0000210491" "DSP" "0000210492" "DSP" "0000210493" "DSP" "0000210494" "DSP" "0000210495" "DSP" "0000210496" "DSP" "0000210497" "DSP" "0000210498" "DSP" "0000210499" "DSP" "0000210500" "DSP" "0000210501" "DSP" "0000210502" "DSP" "0000210503" "DSP" "0000210504" "DSP" "0000210505" "DSP" "0000210506" "DSP" "0000210507" "DSP" "0000210508" "DSP" "0000210509" "DSP" "0000210510" "DSP" "0000210511" "DSP" "0000210512" "DSP" "0000210513" "DSP" "0000210514" "DSP" "0000210515" "DSP" "0000210516" "DSP" "0000210517" "DSP" "0000210518" "DSP" "0000210519" "DSP" "0000210520" "DSP" "0000210521" "DSP" "0000210522" "DSP" "0000210523" "DSP" "0000210524" "DSP" "0000210525" "DSP" "0000210526" "DSP" "0000210527" "DSP" "0000210528" "DSP" "0000210529" "DSP" "0000210530" "DSP" "0000210531" "DSP" "0000210532" "DSP" "0000210533" "DSP" "0000210534" "DSP" "0000210535" "DSP" "0000210536" "DSP" "0000210537" "DSP" "0000210538" "DSP" "0000210539" "DSP" "0000210540" "DSP" "0000210541" "DSP" "0000210542" "DSP" "0000210543" "DSP" "0000210544" "DSP" "0000210545" "DSP" "0000210546" "DSP" "0000210547" "DSP" "0000210548" "DSP" "0000210549" "DSP" "0000210550" "DSP" "0000210551" "DSP" "0000210552" "DSP" "0000210553" "DSP" "0000210554" "DSP" "0000210555" "DSP" "0000210556" "DSP" "0000210557" "DSP" "0000210558" "DSP" "0000210559" "DSP" "0000210560" "DSP" "0000210561" "DSP" "0000210562" "DSP" "0000210563" "DSP" "0000210564" "DSP" "0000210565" "DSP" "0000210566" "DSP" "0000210567" "DSP" "0000210568" "DSP" "0000210569" "DSP" "0000210570" "DSP" "0000210571" "DSP" "0000210572" "DSP" "0000210573" "DSP" "0000210574" "DSP" "0000210575" "DSP" "0000210576" "DSP" "0000210577" "DSP" "0000210578" "DSP" "0000210579" "DSP" "0000210580" "DSP" "0000210581" "DSP" "0000210582" "DSP" "0000210583" "DSP" "0000210584" "DSP" "0000210585" "DSP" "0000210586" "DSP" "0000210587" "DSP" "0000210588" "DSP" "0000210589" "DSP" "0000210590" "DSP" "0000210591" "DSP" "0000210592" "DSP" "0000210593" "DSP" "0000210594" "DSP" "0000210595" "DSP" "0000210596" "DSP" "0000210597" "DSP" "0000210598" "DSP" "0000210599" "DSP" "0000210600" "DSP" "0000210601" "DSP" "0000210602" "DSP" "0000210603" "DSP" "0000210604" "DSP" "0000210605" "DSP" "0000210606" "DSP" "0000210607" "DSP" "0000210608" "DSP" "0000210609" "DSP" "0000210610" "DSP" "0000210611" "DSP" "0000210612" "DSP" "0000210613" "DSP" "0000210614" "DSP" "0000210615" "DSP" "0000210616" "DSP" "0000210617" "DSP" "0000210618" "DSP" "0000210619" "DSP" "0000210620" "DSP" "0000210621" "DSP" "0000210622" "DSP" "0000210623" "DSP" "0000210837" "PKP2" "0000211044" "DSP" "0000211045" "DSP" "0000211045" "PKP2" "0000229254" "OBSCN" "0000248422" "ACTC1" "0000248422" "DES" "0000248422" "DMD" "0000248422" "DSP" "0000248422" "LDB3" "0000248422" "LMNA" "0000248422" "MYBPC3" "0000248422" "MYH6" "0000248422" "MYH7" "0000248422" "PLN" "0000248422" "RBM20" "0000248422" "RYR2" "0000248422" "SCN5A" "0000248422" "TTN" "0000297821" "DSP" "0000306476" "DSP" "0000306477" "DSP" "0000306478" "DSP" "0000306479" "DSP" "0000306480" "DSP" "0000318009" "DSP" "0000318010" "DSP" "0000318011" "DSP" "0000318012" "DSP" "0000318013" "DSP" "0000318014" "DSP" "0000318015" "DSP" "0000318016" "DSP" "0000318017" "DSP" "0000318018" "DSP" "0000318019" "DSP" "0000318020" "DSP" "0000318021" "DSP" "0000318022" "DSP" "0000318023" "DSP" "0000318024" "DSP" "0000318025" "DSP" "0000318026" "DSP" "0000318027" "DSP" "0000318028" "DSP" "0000318029" "DSP" "0000318030" "DSP" "0000318031" "DSP" "0000318164" "DSP" "0000318165" "DSP" "0000318166" "DSP" "0000318167" "DSP" "0000318168" "DSP" "0000318169" "DSP" "0000318170" "DSP" "0000318171" "DSP" "0000318172" "DSP" "0000318173" "DSP" "0000318174" "DSP" "0000318175" "DSP" "0000318176" "DSP" "0000318177" "DSP" "0000318178" "DSP" "0000318179" "DSP" "0000318180" "DSP" "0000318181" "DSP" "0000318182" "DSP" "0000318183" "DSP" "0000318184" "DSP" "0000318185" "DSP" "0000318186" "DSP" "0000318187" "DSP" "0000318188" "DSP" "0000318189" "DSP" "0000318190" "DSP" "0000318191" "DSP" "0000318192" "DSP" "0000318193" "DSP" "0000318194" "DSP" "0000318195" "DSP" "0000318196" "DSP" "0000318197" "DSP" "0000318198" "DSP" "0000318199" "DSP" "0000318200" "DSP" "0000318201" "DSP" "0000318202" "DSP" "0000318203" "DSP" "0000318204" "DSP" "0000318205" "DSP" "0000318914" "DSP" "0000318915" "DSP" "0000318916" "DSP" "0000318917" "DSP" "0000318918" "DSP" "0000318919" "DSP" "0000318920" "DSP" "0000318921" "DSP" "0000321476" "DSP" "0000377614" "DSP" "0000377628" "DSP" "0000377644" "DSP" "0000418943" "DSP" "0000418968" "DSP" "0000418979" "DSP" "0000426234" "DES" "0000426234" "DSC2" "0000426234" "DSG2" "0000426234" "DSP" "0000426234" "FLNC" "0000426234" "JUP" "0000426234" "PKP2" "0000426234" "PLN" "0000426234" "TMEM43" "0000462644" "DSP" "0000462651" "DSP" ## 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 = 1624 "{{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}}" "0000040312" "0" "90" "6" "7583973" "7583973" "subst" "8.12453E-6" "00705" "DSP_000301" "g.7583973C>T" "" "{PMID:Gilissen 2014:24896178}" "" "" "not associated with ID phenotype" "De novo" "" "" "0" "" "" "g.7583740C>T" "" "pathogenic" "" "0000052368" "0" "50" "6" "7568023" "7568023" "subst" "0" "00066" "DSP_000302" "g.7568023G>C" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "" "0" "" "" "g.7567790G>C" "" "VUS" "" "0000052369" "0" "50" "6" "7581641" "7581641" "subst" "0.00141097" "00066" "DSP_000120" "g.7581641G>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs142885240" "0" "" "" "g.7581408G>A" "" "VUS" "" "0000052374" "0" "50" "6" "7585950" "7585950" "subst" "0.0020843" "00066" "DSP_000277" "g.7585950A>C" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "" "rs138329459" "0" "" "" "g.7585717A>C" "" "VUS" "" "0000095127" "1" "90" "6" "7577246" "7577246" "del" "0" "00006" "DSP_000304" "g.7577246del" "" "{PMID:Brun 2014:25157032}, {DOI:Brun 2014:10.1136/jmedgenet-2014-102591}" "" "" "" "Germline" "" "" "0" "" "" "g.7577013del" "" "pathogenic" "" "0000095188" "0" "50" "6" "7581786" "7581786" "subst" "5.73535E-5" "00006" "DSP_000296" "g.7581786A>G" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.A5363G" "" "Germline" "" "" "0" "" "" "g.7581553A>G" "" "VUS" "" "0000095228" "0" "50" "6" "7569444" "7569444" "subst" "4.06144E-6" "00006" "DSP_000306" "g.7569444G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:c.G1445A" "" "Germline" "" "" "0" "" "" "g.7569211G>A" "" "VUS" "" "0000095257" "0" "50" "6" "7583376" "7583376" "subst" "1.62677E-5" "00006" "DSP_000297" "g.7583376G>A" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:c.G4084A (V1362I)" "" "Germline" "" "" "0" "" "" "g.7583143G>A" "" "VUS" "" "0000095286" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095302" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095338" "0" "50" "6" "7575014" "7575014" "subst" "0.000296492" "00006" "DSP_000196" "g.7575014C>T" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:c.C2422T" "" "Germline" "" "" "0" "" "" "g.7574781C>T" "" "VUS" "" "0000095353" "0" "50" "6" "7581601" "7581601" "subst" "0.000739501" "00006" "DSP_000119" "g.7581601C>A" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.C5178A" "" "Germline" "" "" "0" "" "" "g.7581368C>A" "" "VUS" "" "0000095405" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095406" "0" "50" "6" "7580129" "7580129" "subst" "6.10869E-5" "00006" "DSP_000293" "g.7580129A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.A3706G" "" "Germline" "" "" "0" "" "" "g.7579896A>G" "" "VUS" "" "0000095416" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095439" "0" "50" "6" "7583977" "7583977" "subst" "4.06171E-6" "00006" "DSP_000310" "g.7583977C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:.C6482T (A2760V)" "" "Germline" "" "" "0" "" "" "g.7583744C>T" "" "VUS" "" "0000095445" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095469" "0" "50" "6" "7585127" "7585127" "subst" "0" "00006" "DSP_000311" "g.7585127T>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.T5835G (F2544L)" "" "Germline" "" "" "0" "" "" "g.7584894T>G" "" "VUS" "" "0000095514" "0" "50" "6" "7580834" "7580834" "subst" "0" "00006" "DSP_000309" "g.7580834G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:.G4411A (D2070N)" "" "Germline" "" "" "0" "" "" "g.7580601G>A" "" "VUS" "" "0000095532" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095543" "0" "50" "6" "7585686" "7585686" "subst" "0.00258308" "00006" "DSP_000298" "g.7585686T>C" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:c.T6394C (W2132H)" "" "Germline" "" "" "0" "" "" "g.7585453T>C" "" "VUS" "" "0000095546" "0" "50" "6" "7580528" "7580528" "subst" "2.03691E-5" "00006" "DSP_000294" "g.7580528G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.G4105A" "" "Germline" "" "" "0" "" "" "g.7580295G>A" "" "VUS" "" "0000095560" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095562" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095579" "0" "50" "6" "7569482" "7569482" "subst" "0.000170574" "00006" "DSP_000291" "g.7569482G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:c.G1483A" "" "Germline" "" "" "0" "" "" "g.7569249G>A" "" "VUS" "" "0000095609" "0" "50" "6" "7581543" "7581543" "subst" "4.06908E-6" "00006" "DSP_000316" "g.7581543A>G" "" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.A5120G" "" "Germline" "" "" "0" "" "" "g.7581310A>G" "" "VUS" "" "0000095617" "0" "50" "6" "7584845" "7584845" "subst" "0" "00006" "DSP_000317" "g.7584845G>Y" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415.p.K2450N" "" "Germline" "" "" "0" "" "" "g.7584612G>Y" "" "VUS" "" "0000095621" "0" "50" "6" "7580834" "7580834" "subst" "0" "00006" "DSP_000309" "g.7580834G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:.G4411A (D2070N)" "" "Germline" "" "" "0" "" "" "g.7580601G>A" "" "VUS" "" "0000095624" "0" "50" "6" "7580834" "7580834" "subst" "0" "00006" "DSP_000309" "g.7580834G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:.G4411A (D2070N)" "" "Germline" "" "" "0" "" "" "g.7580601G>A" "" "VUS" "" "0000095634" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095650" "0" "50" "6" "7580834" "7580834" "subst" "0" "00006" "DSP_000309" "g.7580834G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:.G4411A (D2070N)" "" "Germline" "" "" "0" "" "" "g.7580601G>A" "" "VUS" "" "0000095692" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095724" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095729" "0" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095793" "1" "50" "6" "7542149" "7542149" "dup" "0" "00006" "DSP_000001" "g.7542149dup" "4/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_001008844:.1_2insA (M1fs)" "" "Germline" "" "" "0" "" "" "g.7541916dup" "" "VUS" "" "0000095794" "1" "50" "6" "7570791" "7570791" "subst" "0.000195282" "00006" "DSP_000029" "g.7570791G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.G1696A" "" "Germline" "" "" "0" "" "" "g.7570558G>A" "" "VUS" "" "0000095795" "1" "50" "6" "7580129" "7580129" "subst" "6.10869E-5" "00006" "DSP_000293" "g.7580129A>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.A3706G" "" "Germline" "" "" "0" "" "" "g.7579896A>G" "" "VUS" "" "0000095796" "1" "50" "6" "7583376" "7583376" "subst" "1.62677E-5" "00006" "DSP_000297" "g.7583376G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.G5881A" "" "Germline" "" "" "0" "" "" "g.7583143G>A" "" "VUS" "" "0000095797" "1" "50" "6" "7585686" "7585686" "subst" "0.00258308" "00006" "DSP_000298" "g.7585686T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004415:c.T8191C" "" "Germline" "" "" "0" "" "" "g.7585453T>C" "" "VUS" "" "0000096481" "0" "70" "6" "7577234" "7577234" "subst" "0" "01601" "DSP_000305" "g.7577234G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7577001G>T" "" "likely pathogenic" "" "0000096526" "0" "50" "6" "7575014" "7575014" "subst" "0.000296492" "01601" "DSP_000196" "g.7575014C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7574781C>T" "" "VUS" "" "0000096527" "0" "50" "6" "7575014" "7575014" "subst" "0.000296492" "01601" "DSP_000196" "g.7575014C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7574781C>T" "" "VUS" "" "0000096559" "0" "50" "6" "7556058" "7556058" "subst" "0.000277823" "01602" "DSP_000137" "g.7556058G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs200473206" "0" "" "" "g.7555825G>A" "" "VUS" "" "0000096959" "0" "50" "6" "7556058" "7556058" "subst" "0.000277823" "01602" "DSP_000137" "g.7556058G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs200473206" "0" "" "" "g.7555825G>A" "" "VUS" "" "0000217960" "0" "50" "6" "7584376" "7584376" "subst" "0.000795874" "02244" "DSP_000123" "g.7584376C>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7584143C>G" "" "VUS" "" "0000218354" "0" "50" "6" "7581272" "7581272" "subst" "0" "02244" "DSP_000331" "g.7581272C>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7581039C>A" "" "VUS" "" "0000218369" "0" "50" "6" "7568718" "7568718" "subst" "4.06412E-6" "02244" "DSP_000325" "g.7568718G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7568485G>A" "" "VUS" "" "0000218378" "0" "50" "6" "7580494" "7580494" "subst" "4.89157E-5" "02244" "DSP_000328" "g.7580494G>C" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7580261G>C" "" "VUS" "" "0000218390" "0" "50" "6" "7581419" "7581419" "subst" "5.28623E-5" "02244" "DSP_000332" "g.7581419C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7581186C>T" "" "VUS" "" "0000218407" "0" "50" "6" "7583523" "7583523" "subst" "1.21884E-5" "02244" "DSP_000334" "g.7583523C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7583290C>T" "" "VUS" "" "0000218409" "0" "50" "6" "7581044" "7581044" "subst" "4.08337E-6" "02244" "DSP_000329" "g.7581044G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7580811G>A" "" "VUS" "" "0000218411" "0" "50" "6" "7576619" "7576619" "subst" "0.00116217" "02244" "DSP_000113" "g.7576619G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7576386G>A" "" "VUS" "" "0000218416" "0" "50" "6" "7581596" "7581596" "subst" "0.000142241" "02244" "DSP_000333" "g.7581596C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7581363C>T" "" "VUS" "" "0000218430" "0" "50" "6" "7581209" "7581209" "subst" "0" "02244" "DSP_000330" "g.7581209G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7580976G>A" "" "VUS" "" "0000218445" "0" "50" "6" "7559593" "7559593" "subst" "0" "02244" "DSP_000324" "g.7559593A>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7559360A>T" "" "VUS" "" "0000218454" "0" "50" "6" "7585240" "7585240" "subst" "1.21818E-5" "02244" "DSP_000336" "g.7585240T>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7585007T>G" "" "VUS" "" "0000218459" "0" "50" "6" "7556022" "7556022" "subst" "0.000142246" "02244" "DSP_000094" "g.7556022G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7555789G>A" "" "VUS" "" "0000218484" "0" "50" "6" "7585906" "7585906" "subst" "0" "02244" "DSP_000337" "g.7585906A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7585673A>G" "" "VUS" "" "0000218502" "0" "50" "6" "7580445" "7580445" "subst" "5.2929E-5" "02244" "DSP_000327" "g.7580445G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.7580212G>A" "" "VUS" "" "0000235436" "0" "70" "6" "7571673" "7571686" "del" "0" "02335" "DSP_000338" "g.7571673_7571686del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7571440_7571453del" "" "likely pathogenic" "" "0000246408" "0" "10" "6" "7565727" "7565727" "subst" "0.0297216" "02330" "DSP_000017" "g.7565727A>T" "" "" "" "DSP(NM_004415.2):c.913A>T (p.I305F), DSP(NM_004415.4):c.913A>T (p.(Ile305Phe), p.I305F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565494A>T" "" "benign" "" "0000246409" "0" "10" "6" "7580958" "7580958" "subst" "0.117415" "02330" "DSP_000061" "g.7580958A>G" "" "" "" "DSP(NM_004415.2):c.4535A>G (p.Y1512C), DSP(NM_004415.4):c.4535A>G (p.Y1512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580725A>G" "" "benign" "" "0000246410" "0" "10" "6" "7582993" "7582993" "subst" "0.00945845" "02330" "DSP_000069" "g.7582993A>T" "" "" "" "DSP(NM_004415.2):c.5498A>T (p.E1833V), DSP(NM_004415.4):c.5498A>T (p.E1833V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7582760A>T" "" "benign" "" "0000246417" "0" "10" "6" "7572262" "7572262" "subst" "0.761591" "02330" "DSP_000037" "g.7572262A>G" "" "" "" "DSP(NM_004415.2):c.2091A>G (p.G697=), DSP(NM_004415.4):c.2091A>G (p.G697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7572029A>G" "" "benign" "" "0000246433" "0" "10" "6" "7571692" "7571692" "subst" "0.000536498" "02330" "DSP_000032" "g.7571692A>G" "" "" "" "DSP(NM_001008844.1):c.1778A>G (p.(Asn593Ser)), DSP(NM_004415.2):c.1778A>G (p.N593S), DSP(NM_004415.4):c.1778A>G (p.N593S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571459A>G" "" "benign" "" "0000246434" "0" "10" "6" "7580152" "7580152" "subst" "2.03727E-5" "02330" "DSP_000447" "g.7580152A>G" "" "" "" "DSP(NM_004415.2):c.3729A>G (p.S1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579919A>G" "" "benign" "" "0000246450" "0" "10" "6" "7580564" "7580564" "subst" "0.000670704" "02330" "DSP_000463" "g.7580564A>T" "" "" "" "DSP(NM_004415.2):c.4141A>T (p.T1381S), DSP(NM_004415.4):c.4141A>T (p.T1381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580331A>T" "" "benign" "" "0000246466" "0" "10" "6" "7578729" "7578729" "subst" "4.06322E-6" "02330" "DSP_000432" "g.7578729A>G" "" "" "" "DSP(NM_004415.2):c.3018A>G (p.L1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7578496A>G" "" "benign" "" "0000246480" "0" "10" "6" "7584294" "7584294" "subst" "0.000312734" "02330" "DSP_000256" "g.7584294A>T" "" "" "" "DSP(NM_004415.2):c.6799A>T (p.T2267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584061A>T" "" "benign" "" "0000246507" "0" "10" "6" "7558511" "7558511" "subst" "3.29571E-5" "02330" "DSP_000358" "g.7558511A>G" "" "" "" "DSP(NM_004415.2):c.422+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7558278A>G" "" "benign" "" "0000246508" "0" "10" "6" "7568840" "7568840" "subst" "2.85803E-5" "02330" "DSP_000395" "g.7568840A>C" "" "" "" "DSP(NM_004415.2):c.1419+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7568607A>C" "" "benign" "" "0000246513" "0" "30" "6" "7583927" "7583927" "subst" "2.03194E-5" "02330" "DSP_000518" "g.7583927A>T" "" "" "" "DSP(NM_004415.2):c.6432A>T (p.P2144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583694A>T" "" "likely benign" "" "0000246523" "0" "70" "6" "7583888" "7583888" "del" "0" "02330" "DSP_000576" "g.7583888del" "" "" "" "DSP(NM_004415.2):c.6393delA (p.G2133Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583655del" "" "likely pathogenic" "" "0000246527" "0" "50" "6" "7584691" "7584691" "subst" "0" "02330" "DSP_000531" "g.7584691A>G" "" "" "" "DSP(NM_004415.2):c.7196A>G (p.E2399G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584458A>G" "" "VUS" "" "0000246531" "0" "50" "6" "7584663" "7584663" "subst" "0" "02330" "DSP_000530" "g.7584663A>G" "" "" "" "DSP(NM_004415.2):c.7168A>G (p.I2390V, p.(Ile2390Val)), DSP(NM_004415.4):c.7168A>G (p.I2390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584430A>G" "" "VUS" "" "0000246532" "0" "50" "6" "7585884" "7585884" "subst" "0" "02330" "DSP_000548" "g.7585884A>G" "" "" "" "DSP(NM_004415.2):c.8389A>G (p.I2797V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585651A>G" "" "VUS" "" "0000246533" "0" "50" "6" "7580285" "7580285" "subst" "0.000276695" "02330" "DSP_000217" "g.7580285A>C" "" "" "" "DSP(NM_004415.2):c.3862A>C (p.K1288Q), DSP(NM_004415.4):c.3862A>C (p.(Lys1288Gln), p.K1288Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580052A>C" "" "VUS" "" "0000246534" "0" "50" "6" "7580375" "7580375" "subst" "0" "02330" "DSP_000453" "g.7580375A>G" "" "" "" "DSP(NM_004415.2):c.3952A>G (p.K1318E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580142A>G" "" "VUS" "" "0000246535" "0" "50" "6" "7580944" "7580944" "subst" "0" "02330" "DSP_000479" "g.7580944A>T" "" "" "" "DSP(NM_004415.2):c.4521A>T (p.L1507F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580711A>T" "" "VUS" "" "0000247840" "0" "10" "6" "7565727" "7565727" "subst" "0.0297216" "02325" "DSP_000017" "g.7565727A>T" "" "" "" "DSP(NM_004415.2):c.913A>T (p.I305F), DSP(NM_004415.4):c.913A>T (p.(Ile305Phe), p.I305F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565494A>T" "" "benign" "" "0000247843" "0" "10" "6" "7580958" "7580958" "subst" "0.117415" "02325" "DSP_000061" "g.7580958A>G" "" "" "" "DSP(NM_004415.2):c.4535A>G (p.Y1512C), DSP(NM_004415.4):c.4535A>G (p.Y1512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580725A>G" "" "benign" "" "0000247868" "0" "30" "6" "7582993" "7582993" "subst" "0.00945845" "02325" "DSP_000069" "g.7582993A>T" "" "" "" "DSP(NM_004415.2):c.5498A>T (p.E1833V), DSP(NM_004415.4):c.5498A>T (p.E1833V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7582760A>T" "" "likely benign" "" "0000247912" "0" "10" "6" "7572262" "7572262" "subst" "0.761591" "02325" "DSP_000037" "g.7572262A>G" "" "" "" "DSP(NM_004415.2):c.2091A>G (p.G697=), DSP(NM_004415.4):c.2091A>G (p.G697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7572029A>G" "" "benign" "" "0000248081" "0" "30" "6" "7571692" "7571692" "subst" "0.000536498" "02325" "DSP_000032" "g.7571692A>G" "" "" "" "DSP(NM_001008844.1):c.1778A>G (p.(Asn593Ser)), DSP(NM_004415.2):c.1778A>G (p.N593S), DSP(NM_004415.4):c.1778A>G (p.N593S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571459A>G" "" "likely benign" "" "0000248133" "0" "70" "6" "7542266" "7542266" "del" "0" "02325" "DSP_000347" "g.7542266del" "" "" "" "DSP(NM_004415.2):c.118delA (p.M40Cfs*8), DSP(NM_004415.4):c.118delA (p.M40Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542033del" "" "likely pathogenic" "" "0000248164" "0" "50" "6" "7585725" "7585725" "subst" "0" "02325" "DSP_000542" "g.7585725A>G" "" "" "" "DSP(NM_004415.2):c.8230A>G (p.R2744G), DSP(NM_004415.4):c.8230A>G (p.R2744G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585492A>G" "" "VUS" "" "0000248282" "0" "30" "6" "7575044" "7575044" "subst" "0.00039403" "02325" "DSP_000410" "g.7575044A>G" "" "" "" "DSP(NM_004415.2):c.2436+16A>G, DSP(NM_004415.4):c.2436+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574811A>G" "" "likely benign" "" "0000248417" "0" "10" "6" "7580564" "7580564" "subst" "0.000670704" "02325" "DSP_000463" "g.7580564A>T" "" "" "" "DSP(NM_004415.2):c.4141A>T (p.T1381S), DSP(NM_004415.4):c.4141A>T (p.T1381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580331A>T" "" "benign" "" "0000249479" "0" "50" "6" "7580540" "7580540" "subst" "7.72999E-5" "02325" "DSP_000223" "g.7580540A>G" "" "" "" "DSP(NM_004415.4):c.4117A>G (p.T1373A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580307A>G" "" "VUS" "" "0000249543" "0" "30" "6" "7559440" "7559440" "subst" "0" "02325" "DSP_000359" "g.7559440A>T" "" "" "" "DSP(NM_004415.4):c.423-19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559207A>T" "" "likely benign" "" "0000249607" "0" "90" "6" "7584182" "7584182" "del" "0" "02325" "DSP_000523" "g.7584182del" "" "" "" "DSP(NM_004415.4):c.6687delA (p.R2229Sfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583949del" "" "pathogenic" "" "0000249653" "0" "90" "6" "7571619" "7571619" "subst" "0" "02325" "DSP_000405" "g.7571619A>T" "" "" "" "DSP(NM_004415.4):c.1705A>T (p.K569*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571386A>T" "" "pathogenic" "" "0000249780" "0" "50" "6" "7571625" "7571625" "subst" "0" "02325" "DSP_000406" "g.7571625A>G" "" "" "" "DSP(NM_004415.4):c.1711A>G (p.M571V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571392A>G" "" "VUS" "" "0000250622" "0" "10" "6" "7565727" "7565727" "subst" "0.0297216" "02326" "DSP_000017" "g.7565727A>T" "" "" "" "DSP(NM_004415.2):c.913A>T (p.I305F), DSP(NM_004415.4):c.913A>T (p.(Ile305Phe), p.I305F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565494A>T" "" "benign" "" "0000250625" "0" "10" "6" "7580958" "7580958" "subst" "0.117415" "02326" "DSP_000061" "g.7580958A>G" "" "" "" "DSP(NM_004415.2):c.4535A>G (p.Y1512C), DSP(NM_004415.4):c.4535A>G (p.Y1512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580725A>G" "" "benign" "" "0000250650" "0" "10" "6" "7582993" "7582993" "subst" "0.00945845" "02326" "DSP_000069" "g.7582993A>T" "" "" "" "DSP(NM_004415.2):c.5498A>T (p.E1833V), DSP(NM_004415.4):c.5498A>T (p.E1833V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7582760A>T" "" "benign" "" "0000250772" "0" "30" "6" "7571692" "7571692" "subst" "0.000536498" "02326" "DSP_000032" "g.7571692A>G" "" "" "" "DSP(NM_001008844.1):c.1778A>G (p.(Asn593Ser)), DSP(NM_004415.2):c.1778A>G (p.N593S), DSP(NM_004415.4):c.1778A>G (p.N593S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571459A>G" "" "likely benign" "" "0000250783" "0" "30" "6" "7580152" "7580152" "subst" "2.03727E-5" "02326" "DSP_000447" "g.7580152A>G" "" "" "" "DSP(NM_004415.2):c.3729A>G (p.S1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579919A>G" "" "likely benign" "" "0000251728" "0" "30" "6" "7575044" "7575044" "subst" "0.00039403" "02326" "DSP_000410" "g.7575044A>G" "" "" "" "DSP(NM_004415.2):c.2436+16A>G, DSP(NM_004415.4):c.2436+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574811A>G" "" "likely benign" "" "0000251790" "0" "30" "6" "7583900" "7583900" "subst" "0" "02326" "DSP_000517" "g.7583900A>C" "" "" "" "DSP(NM_004415.2):c.6405A>C (p.V2135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583667A>C" "" "likely benign" "" "0000251791" "0" "30" "6" "7584425" "7584425" "subst" "0" "02326" "DSP_000526" "g.7584425A>G" "" "" "" "DSP(NM_004415.2):c.6930A>G (p.L2310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584192A>G" "" "likely benign" "" "0000251933" "0" "30" "6" "7580999" "7580999" "subst" "0" "02326" "DSP_000482" "g.7580999A>G" "" "" "" "DSP(NM_004415.2):c.4576A>G (p.N1526D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580766A>G" "" "likely benign" "" "0000251959" "0" "30" "6" "7581786" "7581786" "subst" "5.73535E-5" "02326" "DSP_000296" "g.7581786A>G" "" "" "" "DSP(NM_004415.2):c.5363A>G (p.Q1788R), DSP(NM_004415.4):c.5363A>G (p.Q1788R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581553A>G" "" "likely benign" "" "0000251982" "0" "30" "6" "7585395" "7585395" "subst" "0" "02326" "DSP_000536" "g.7585395A>T" "" "" "" "DSP(NM_004415.2):c.7900A>T (p.T2634S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585162A>T" "" "likely benign" "" "0000252145" "0" "30" "6" "7579394" "7579394" "subst" "0" "02326" "DSP_000435" "g.7579394A>G" "" "" "" "DSP(NM_004415.2):c.3085-114A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579161A>G" "" "likely benign" "" "0000252427" "0" "50" "6" "7568815" "7568815" "subst" "8.13683E-6" "02326" "DSP_000394" "g.7568815A>G" "" "" "" "DSP(NM_004415.2):c.1412A>G (p.Q471R), DSP(NM_004415.4):c.1412A>G (p.Q471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7568582A>G" "" "VUS" "" "0000252685" "0" "50" "6" "7580870" "7580870" "subst" "4.08103E-6" "02326" "DSP_000475" "g.7580870A>T" "" "" "" "DSP(NM_004415.2):c.4447A>T (p.I1483L), DSP(NM_004415.4):c.4447A>T (p.I1483L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580637A>T" "" "VUS" "" "0000252703" "0" "30" "6" "7580286" "7580286" "subst" "1.22063E-5" "02326" "DSP_000218" "g.7580286A>G" "" "" "" "DSP(NM_004415.2):c.3863A>G (p.K1288R), DSP(NM_004415.4):c.3863A>G (p.K1288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580053A>G" "" "likely benign" "" "0000252705" "0" "30" "6" "7581198" "7581198" "subst" "0.000224501" "02326" "DSP_000233" "g.7581198A>G" "" "" "" "DSP(NM_004415.2):c.4775A>G (p.K1592R), DSP(NM_004415.4):c.4775A>G (p.K1592R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580965A>G" "" "likely benign" "" "0000252755" "0" "50" "6" "7572153" "7572153" "subst" "0" "02326" "DSP_000191" "g.7572153A>T" "" "" "" "DSP(NM_004415.2):c.1982A>T (p.N661I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571920A>T" "" "VUS" "" "0000252788" "0" "50" "6" "7579839" "7579839" "subst" "0" "02326" "DSP_000441" "g.7579839A>G" "" "" "" "DSP(NM_004415.2):c.3416A>G (p.Y1139C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579606A>G" "" "VUS" "" "0000252974" "0" "10" "6" "7565727" "7565727" "subst" "0.0297216" "01943" "DSP_000017" "g.7565727A>T" "" "" "" "DSP(NM_004415.2):c.913A>T (p.I305F), DSP(NM_004415.4):c.913A>T (p.(Ile305Phe), p.I305F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565494A>T" "" "benign" "" "0000252977" "0" "10" "6" "7580958" "7580958" "subst" "0.117415" "01943" "DSP_000061" "g.7580958A>G" "" "" "" "DSP(NM_004415.2):c.4535A>G (p.Y1512C), DSP(NM_004415.4):c.4535A>G (p.Y1512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580725A>G" "" "benign" "" "0000253002" "0" "10" "6" "7582993" "7582993" "subst" "0.00945845" "01943" "DSP_000069" "g.7582993A>T" "" "" "" "DSP(NM_004415.2):c.5498A>T (p.E1833V), DSP(NM_004415.4):c.5498A>T (p.E1833V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7582760A>T" "" "benign" "" "0000253173" "0" "10" "6" "7572262" "7572262" "subst" "0.761591" "01943" "DSP_000037" "g.7572262A>G" "" "" "" "DSP(NM_004415.2):c.2091A>G (p.G697=), DSP(NM_004415.4):c.2091A>G (p.G697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7572029A>G" "" "benign" "" "0000253804" "0" "10" "6" "7577293" "7577293" "subst" "0" "01943" "DSP_000428" "g.7577293A>C" "" "" "" "DSP(NM_004415.2):c.2877+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577060A>C" "" "benign" "" "0000253991" "0" "30" "6" "7571692" "7571692" "subst" "0.000536498" "01943" "DSP_000032" "g.7571692A>G" "" "" "" "DSP(NM_001008844.1):c.1778A>G (p.(Asn593Ser)), DSP(NM_004415.2):c.1778A>G (p.N593S), DSP(NM_004415.4):c.1778A>G (p.N593S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571459A>G" "" "likely benign" "" "0000254002" "0" "30" "6" "7580152" "7580152" "subst" "2.03727E-5" "01943" "DSP_000447" "g.7580152A>G" "" "" "" "DSP(NM_004415.2):c.3729A>G (p.S1243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579919A>G" "" "likely benign" "" "0000254213" "0" "30" "6" "7568022" "7568022" "subst" "2.03245E-5" "01943" "DSP_000556" "g.7568022A>G" "" "" "" "DSP(NM_004415.2):c.1149A>G (p.E383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567789A>G" "" "likely benign" "" "0000254360" "0" "30" "6" "7580464" "7580464" "subst" "2.03659E-5" "01943" "DSP_000458" "g.7580464A>G" "" "" "" "DSP(NM_004415.2):c.4041A>G (p.E1347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580231A>G" "" "likely benign" "" "0000254526" "0" "30" "6" "7585763" "7585763" "subst" "0.000995344" "01943" "DSP_000577" "g.7585763A>C" "" "" "" "DSP(NM_004415.2):c.8268A>C (p.I2756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585530A>C" "" "likely benign" "" "0000254896" "0" "30" "6" "7580824" "7580824" "subst" "0.000101723" "01943" "DSP_000474" "g.7580824A>G" "" "" "" "DSP(NM_004415.2):c.4401A>G (p.Q1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580591A>G" "" "likely benign" "" "0000255348" "0" "70" "6" "7542266" "7542266" "del" "0" "01943" "DSP_000347" "g.7542266del" "" "" "" "DSP(NM_004415.2):c.118delA (p.M40Cfs*8), DSP(NM_004415.4):c.118delA (p.M40Cfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542033del" "" "likely pathogenic" "" "0000255681" "0" "90" "6" "7572073" "7572073" "subst" "0" "01943" "DSP_000564" "g.7572073A>G" "" "" "" "DSP(NM_004415.2):c.1904-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571840A>G" "" "pathogenic" "" "0000255682" "0" "90" "6" "7576525" "7576525" "subst" "0" "01943" "DSP_000417" "g.7576525A>C" "" "" "" "DSP(NM_004415.2):c.2631-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576292A>C" "" "pathogenic" "" "0000255802" "0" "50" "6" "7585725" "7585725" "subst" "0" "01943" "DSP_000542" "g.7585725A>G" "" "" "" "DSP(NM_004415.2):c.8230A>G (p.R2744G), DSP(NM_004415.4):c.8230A>G (p.R2744G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585492A>G" "" "VUS" "" "0000256131" "0" "50" "6" "7580391" "7580391" "subst" "8.1414E-6" "01943" "DSP_000454" "g.7580391A>G" "" "" "" "DSP(NM_004415.2):c.3968A>G (p.K1323R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580158A>G" "" "VUS" "" "0000256349" "0" "50" "6" "7558419" "7558419" "subst" "6.09187E-5" "01943" "DSP_000008" "g.7558419A>G" "" "" "" "DSP(NM_004415.2):c.344A>G (p.N115S), DSP(NM_004415.4):c.344A>G (p.N115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7558186A>G" "" "VUS" "" "0000256378" "0" "50" "6" "7565674" "7565674" "subst" "0" "01943" "DSP_000376" "g.7565674A>G" "" "" "" "DSP(NM_004415.2):c.860A>G (p.N287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565441A>G" "" "VUS" "" "0000256534" "0" "50" "6" "7581071" "7581071" "subst" "8.1662E-6" "01943" "DSP_000488" "g.7581071A>T" "" "" "" "DSP(NM_004415.2):c.4648A>T (p.T1550S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580838A>T" "" "VUS" "" "0000265544" "0" "10" "6" "7542253" "7542253" "subst" "0.0053285" "02330" "DSP_000091" "g.7542253G>A" "" "" "" "DSP(NM_004415.2):c.105G>A (p.G35=), DSP(NM_004415.4):c.105G>A (p.(Gly35=), p.G35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542020G>A" "" "benign" "" "0000265545" "0" "10" "6" "7568079" "7568079" "subst" "0.00140258" "02330" "DSP_000103" "g.7568079G>A" "" "" "" "DSP(NM_004415.2):c.1206G>A (p.K402=), DSP(NM_004415.4):c.1206G>A (p.K402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567846G>A" "" "benign" "" "0000265546" "0" "90" "6" "7568140" "7568140" "subst" "0" "02330" "DSP_000391" "g.7568140G>T" "" "" "" "DSP(NM_004415.2):c.1266+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567907G>T" "" "pathogenic" "" "0000265547" "0" "10" "6" "7568145" "7568145" "subst" "0.000517704" "02330" "DSP_000155" "g.7568145G>T" "" "" "" "DSP(NM_004415.2):c.1266+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567912G>T" "" "benign" "" "0000265548" "0" "10" "6" "7542274" "7542274" "subst" "0.0545796" "02330" "DSP_000003" "g.7542274T>C" "" "" "" "DSP(NM_004415.2):c.126T>C (p.Y42=), DSP(NM_004415.4):c.126T>C (p.Y42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542041T>C" "" "benign" "" "0000265549" "0" "10" "6" "7568747" "7568747" "subst" "0.000215393" "02330" "DSP_000393" "g.7568747G>A" "" "" "" "DSP(NM_004415.2):c.1344G>A (p.L448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7568514G>A" "" "benign" "" "0000265550" "0" "10" "6" "7569487" "7569487" "subst" "0.00105597" "02330" "DSP_000026" "g.7569487G>A" "" "" "" "DSP(NM_004415.2):c.1488G>A (p.T496=), DSP(NM_004415.4):c.1488G>A (p.T496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569254G>A" "" "benign" "" "0000265551" "0" "10" "6" "7569551" "7569551" "subst" "0" "02330" "DSP_000400" "g.7569551C>T" "" "" "" "DSP(NM_004415.2):c.1552C>T (p.L518=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569318C>T" "" "benign" "" "0000265552" "0" "90" "6" "7570765" "7570766" "del" "0" "02330" "DSP_000404" "g.7570765_7570766del" "" "" "" "DSP(NM_004415.2):c.1670_1671delTA (p.I557Rfs*27), DSP(NM_004415.4):c.1670_1671delTA (p.I557Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7570532_7570533del" "" "pathogenic" "" "0000265553" "0" "10" "6" "7570791" "7570791" "subst" "0.000195282" "02330" "DSP_000029" "g.7570791G>A" "" "" "" "DSP(NM_004415.2):c.1696G>A (p.A566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7570558G>A" "" "benign" "" "0000265554" "0" "30" "6" "7555955" "7555958" "del" "0" "02330" "DSP_000350" "g.7555955_7555958del" "" "" "" "DSP(NM_004415.2):c.175_178delACCG (p.T59Afs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555722_7555725del" "" "likely benign" "" "0000265555" "0" "90" "6" "7571818" "7571818" "subst" "0" "02330" "DSP_000559" "g.7571818G>T" "" "" "" "DSP(NM_004415.2):c.1903+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571585G>T" "" "pathogenic" "" "0000265556" "0" "10" "6" "7571821" "7571821" "subst" "4.06967E-5" "02330" "DSP_000560" "g.7571821G>A" "" "" "" "DSP(NM_004415.2):c.1903+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571588G>A" "" "benign" "" "0000265557" "0" "10" "6" "7571824" "7571824" "subst" "0.00593436" "02330" "DSP_000034" "g.7571824T>C" "" "" "" "DSP(NM_001008844.1):c.1903+7T>C (p.(=)), DSP(NM_004415.2):c.1903+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571591T>C" "" "benign" "" "0000265558" "0" "10" "6" "7572059" "7572059" "subst" "0" "02330" "DSP_000563" "g.7572059T>A" "" "" "" "DSP(NM_004415.2):c.1904-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571826T>A" "" "benign" "" "0000265559" "0" "90" "6" "7572302" "7572302" "subst" "0" "02330" "DSP_000569" "g.7572302G>A" "" "" "" "DSP(NM_004415.2):c.2130+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7572069G>A" "" "pathogenic" "" "0000265560" "0" "90" "6" "7574487" "7574487" "subst" "0" "02330" "DSP_000573" "g.7574487T>A" "" "" "" "DSP(NM_004415.2):c.2297+2T>A, DSP(NM_004415.4):c.2297+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574254T>A" "" "pathogenic" "" "0000265561" "0" "10" "6" "7574938" "7574938" "subst" "0.00130829" "02330" "DSP_000194" "g.7574938C>T" "" "" "" "DSP(NM_004415.2):c.2346C>T (p.D782=), DSP(NM_004415.4):c.2346C>T (p.(Asp782=), p.D782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574705C>T" "" "benign" "" "0000265562" "0" "50" "6" "7575559" "7575559" "subst" "4.06161E-5" "02330" "DSP_000412" "g.7575559C>T" "" "" "" "DSP(NM_004415.2):c.2468C>T (p.S823L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7575326C>T" "" "VUS" "" "0000265563" "0" "10" "6" "7575561" "7575561" "subst" "0" "02330" "DSP_000111" "g.7575561T>C" "" "" "" "DSP(NM_004415.2):c.2470T>C (p.L824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7575328T>C" "" "benign" "" "0000265564" "0" "10" "6" "7576527" "7576527" "subst" "0.774109" "02330" "DSP_000042" "g.7576527G>A" "" "" "" "DSP(NM_004415.2):c.2631G>A (p.R877=), DSP(NM_004415.4):c.2631G>A (p.R877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576294G>A" "" "benign" "" "0000265565" "0" "70" "6" "7576533" "7576533" "subst" "0" "02330" "DSP_000419" "g.7576533G>A" "" "" "" "DSP(NM_004415.2):c.2637G>A (p.W879*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576300G>A" "" "likely pathogenic" "" "0000265566" "0" "50" "6" "7576540" "7576540" "subst" "2.43877E-5" "02330" "DSP_000201" "g.7576540G>A" "" "" "" "DSP(NM_004415.2):c.2644G>A (p.E882K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576307G>A" "" "VUS" "" "0000265567" "0" "10" "6" "7556044" "7556044" "subst" "8.95649E-5" "02330" "DSP_000354" "g.7556044C>T" "" "" "" "DSP(NM_004415.2):c.264C>T (p.I88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555811C>T" "" "benign" "" "0000265568" "0" "10" "6" "7576569" "7576569" "subst" "0.00162566" "02330" "DSP_000202" "g.7576569T>C" "" "" "" "DSP(NM_004415.2):c.2673T>C (p.Y891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576336T>C" "" "benign" "" "0000265569" "0" "30" "6" "7576579" "7576579" "subst" "0.000105659" "02330" "DSP_000203" "g.7576579T>C" "" "" "" "DSP(NM_004415.2):c.2683T>C (p.Y895H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576346T>C" "" "likely benign" "" "0000265570" "0" "10" "6" "7556063" "7556063" "subst" "0.0235482" "02330" "DSP_000006" "g.7556063C>T" "" "" "" "DSP(NM_004415.2):c.273+10C>T, DSP(NM_004415.4):c.273+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555830C>T" "" "benign" "" "0000265571" "0" "50" "6" "7556058" "7556058" "subst" "0.000277823" "02330" "DSP_000137" "g.7556058G>A" "" "" "" "DSP(NM_004415.2):c.273+5G>A (p.?), DSP(NM_004415.4):c.273+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555825G>A" "" "VUS" "" "0000265573" "0" "10" "6" "7577213" "7577213" "subst" "0.00276531" "02330" "DSP_000114" "g.7577213G>A" "" "" "" "DSP(NM_004415.2):c.2815G>A (p.G939S), DSP(NM_004415.4):c.2815G>A (p.G939S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576980G>A" "" "benign" "" "0000265574" "0" "10" "6" "7577260" "7577260" "subst" "0.239441" "02330" "DSP_000043" "g.7577260C>T" "" "" "" "DSP(NM_004415.2):c.2862C>T (p.C954=), DSP(NM_004415.4):c.2862C>T (p.C954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577027C>T" "" "benign" "" "0000265575" "0" "10" "6" "7577290" "7577293" "del" "0" "02330" "DSP_000426" "g.7577290_7577293del" "" "" "" "DSP(NM_004415.2):c.2877+15_2877+18delTAAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577057_7577060del" "" "benign" "" "0000265576" "0" "10" "6" "7577291" "7577297" "del" "0" "02330" "DSP_000427" "g.7577291_7577297del" "" "" "" "DSP(NM_004415.2):c.2877+16_2877+22delAAAGAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577058_7577064del" "" "benign" "" "0000265577" "0" "50" "6" "7578715" "7578715" "subst" "4.06392E-5" "02330" "DSP_000430" "g.7578715C>T" "" "" "" "DSP(NM_001008844.1):c.3004C>T (p.(Arg1002Trp)), DSP(NM_004415.2):c.3004C>T (p.R1002W), DSP(NM_004415.4):c.3004C>T (p.R1002W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7578482C>T" "" "VUS" "" "0000265578" "0" "10" "6" "7579546" "7579546" "subst" "0.00031298" "02330" "DSP_000437" "g.7579546C>T" "" "" "" "DSP(NM_004415.2):c.3123C>T (p.L1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579313C>T" "" "benign" "" "0000265579" "0" "10" "6" "7579933" "7579933" "subst" "0.00230411" "02330" "DSP_000055" "g.7579933G>A" "" "" "" "DSP(NM_004415.2):c.3510G>A (p.E1170=), DSP(NM_004415.4):c.3510G>A (p.E1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579700G>A" "" "benign" "" "0000265580" "0" "50" "6" "7579985" "7579985" "subst" "8.56088E-5" "02330" "DSP_000443" "g.7579985T>C" "" "" "" "DSP(NM_004415.2):c.3562T>C (p.Y1188H), DSP(NM_004415.4):c.3562T>C (p.(Tyr1188His), p.Y1188H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579752T>C" "" "VUS" "" "0000265581" "0" "10" "6" "7580119" "7580119" "subst" "0.000370603" "02330" "DSP_000446" "g.7580119C>A" "" "" "" "DSP(NM_004415.2):c.3696C>A (p.S1232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579886C>A" "" "benign" "" "0000265582" "0" "50" "6" "7580442" "7580442" "subst" "2.03568E-5" "02330" "DSP_000457" "g.7580442G>A" "" "" "" "DSP(NM_004415.2):c.4019G>A (p.R1340H), DSP(NM_004415.4):c.4019G>A (p.R1340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580209G>A" "" "VUS" "" "0000265583" "0" "10" "6" "7580488" "7580488" "subst" "0.00083133" "02330" "DSP_000117" "g.7580488T>C" "" "" "" "DSP(NM_004415.2):c.4065T>C (p.Y1355=), DSP(NM_004415.4):c.4065T>C (p.Y1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580255T>C" "" "benign" "" "0000265584" "0" "10" "6" "7580563" "7580563" "subst" "0" "02330" "DSP_000462" "g.7580563C>T" "" "" "" "DSP(NM_004415.2):c.4140C>T (p.L1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580330C>T" "" "benign" "" "0000265585" "0" "70" "6" "7580603" "7580603" "subst" "4.06296E-6" "02330" "DSP_000465" "g.7580603C>T" "" "" "" "DSP(NM_004415.2):c.4180C>T (p.Q1394*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580370C>T" "" "likely pathogenic" "" "0000265586" "0" "10" "6" "7580621" "7580621" "subst" "0" "02330" "DSP_000466" "g.7580621C>A" "" "" "" "DSP(NM_004415.2):c.4198C>A (p.R1400=), DSP(NM_004415.4):c.4198C>A (p.R1400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580388C>A" "" "benign" "" "0000265589" "0" "50" "6" "7580697" "7580697" "subst" "1.62493E-5" "02330" "DSP_000469" "g.7580697G>A" "" "" "" "DSP(NM_004415.2):c.4274G>A (p.R1425K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580464G>A" "" "VUS" "" "0000265590" "0" "10" "6" "7559465" "7559465" "subst" "0" "02330" "DSP_000365" "g.7559465T>C" "" "" "" "DSP(NM_004415.2):c.429T>C (p.L143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559232T>C" "" "benign" "" "0000265591" "0" "10" "6" "7580743" "7580743" "subst" "0.000450923" "02330" "DSP_000470" "g.7580743G>A" "" "" "" "DSP(NM_004415.2):c.4320G>A (p.V1440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580510G>A" "" "benign" "" "0000265592" "0" "50" "6" "7580775" "7580775" "subst" "0" "02330" "DSP_000471" "g.7580775T>C" "" "" "" "DSP(NM_004415.2):c.4352T>C (p.L1451P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580542T>C" "" "VUS" "" "0000265593" "0" "10" "6" "7580806" "7580806" "subst" "0.00194765" "02330" "DSP_000118" "g.7580806G>A" "" "" "" "DSP(NM_004415.2):c.4383G>A (p.E1461=), DSP(NM_004415.4):c.4383G>A (p.E1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580573G>A" "" "benign" "" "0000265594" "0" "10" "6" "7580913" "7580913" "subst" "6.96373E-5" "02330" "DSP_000478" "g.7580913G>A" "" "" "" "DSP(NM_004415.2):c.4490G>A (p.R1497Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580680G>A" "" "benign" "" "0000265595" "0" "50" "6" "7580988" "7580988" "subst" "6.1229E-5" "02330" "DSP_000149" "g.7580988C>T" "" "" "" "DSP(NM_004415.2):c.4565C>T (p.T1522M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580755C>T" "" "VUS" "" "0000265596" "0" "10" "6" "7581001" "7581001" "subst" "0.0106141" "02330" "DSP_000062" "g.7581001C>A" "" "" "" "DSP(NM_004415.2):c.4578C>A (p.N1526K), DSP(NM_004415.4):c.4578C>A (p.(Asn1526Lys), p.N1526K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580768C>A" "" "benign" "" "0000265597" "0" "90" "6" "7581031" "7581035" "del" "0" "02330" "DSP_000485" "g.7581031_7581035del" "" "" "" "DSP(NM_004415.2):c.4608_4612delACGCC (p.R1537Efs*5), DSP(NM_004415.4):c.4608_4612delACGCC (p.R1537Efs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580798_7580802del" "" "pathogenic" "" "0000265598" "0" "10" "6" "7581032" "7581032" "subst" "0.00874909" "02330" "DSP_000063" "g.7581032C>T" "" "" "" "DSP(NM_004415.2):c.4609C>T (p.R1537C), DSP(NM_004415.4):c.4609C>T (p.R1537C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580799C>T" "" "benign" "" "0000265599" "0" "10" "6" "7581196" "7581196" "subst" "0.0139939" "02330" "DSP_000065" "g.7581196G>A" "" "" "" "DSP(NM_004415.2):c.4773G>A (p.R1591=), DSP(NM_004415.4):c.4773G>A (p.(Arg1591=), p.R1591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580963G>A" "" "benign" "" "0000265600" "0" "50" "6" "7581324" "7581324" "subst" "5.72082E-5" "02330" "DSP_000490" "g.7581324G>A" "" "" "" "DSP(NM_004415.2):c.4901G>A (p.R1634Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581091G>A" "" "VUS" "" "0000265602" "0" "10" "6" "7581601" "7581601" "subst" "0.000739501" "02330" "DSP_000119" "g.7581601C>A" "" "" "" "DSP(NM_004415.2):c.5178C>A (p.N1726K), DSP(NM_004415.4):c.5178C>A (p.N1726K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581368C>A" "" "benign" "" "0000265603" "0" "70" "6" "7581631" "7581632" "del" "0" "02330" "DSP_000496" "g.7581631_7581632del" "" "" "" "DSP(NM_004415.2):c.5208_5209delAG (p.G1737Tfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581398_7581399del" "" "likely pathogenic" "" "0000265604" "0" "10" "6" "7581636" "7581636" "subst" "0.172202" "02330" "DSP_000067" "g.7581636G>A" "" "" "" "DSP(NM_004415.2):c.5213G>A (p.R1738Q), DSP(NM_004415.4):c.5213G>A (p.R1738Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581403G>A" "" "benign" "" "0000265605" "0" "50" "6" "7559557" "7559557" "subst" "7.31535E-5" "02330" "DSP_000367" "g.7559557G>T" "" "" "" "DSP(NM_004415.2):c.521G>T (p.C174F), DSP(NM_004415.4):c.521G>T (p.C174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559324G>T" "" "VUS" "" "0000265606" "0" "90" "6" "7582914" "7582914" "subst" "0" "02330" "DSP_000242" "g.7582914C>T" "" "" "" "DSP(NM_004415.2):c.5419C>T (p.Q1807*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7582681C>T" "" "pathogenic" "" "0000265607" "0" "50" "6" "7583171" "7583173" "del" "0" "02330" "DSP_000502" "g.7583171_7583173del" "" "" "" "DSP(NM_004415.2):c.5676_5678delGAA (p.K1892del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7582938_7582940del" "" "VUS" "" "0000265608" "0" "50" "6" "7583296" "7583296" "subst" "4.07621E-6" "02330" "DSP_000505" "g.7583296G>A" "" "" "" "DSP(NM_004415.2):c.5801G>A (p.R1934Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583063G>A" "" "VUS" "" "0000265609" "0" "10" "6" "7583549" "7583549" "subst" "7.72182E-5" "02330" "DSP_000506" "g.7583549C>T" "" "" "" "DSP(NM_004415.2):c.6054C>T (p.I2018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583316C>T" "" "benign" "" "0000265610" "0" "10" "6" "7583703" "7583703" "subst" "0.004102" "02330" "DSP_000071" "g.7583703G>A" "" "" "" "DSP(NM_001008844.1):c.4411G>A (p.(Asp1471Asn)), DSP(NM_004415.2):c.6208G>A (p.D2070N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583470G>A" "" "benign" "" "0000265611" "0" "50" "6" "7583770" "7583770" "subst" "8.12341E-6" "02330" "DSP_000510" "g.7583770C>T" "" "" "" "DSP(NM_004415.2):c.6275C>T (p.A2092V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583537C>T" "" "VUS" "" "0000265612" "0" "50" "6" "7583800" "7583800" "subst" "8.12301E-6" "02330" "DSP_000511" "g.7583800G>T" "" "" "" "DSP(NM_004415.2):c.6305G>T (p.G2102V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583567G>T" "" "VUS" "" "0000265613" "0" "30" "6" "7583828" "7583832" "del" "0" "02330" "DSP_000512" "g.7583828_7583832del" "" "" "" "DSP(NM_004415.2):c.6333_6337delCAAGA (p.K2113Ffs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583595_7583599del" "" "likely benign" "" "0000265614" "0" "10" "6" "7583885" "7583885" "subst" "0.00959819" "02330" "DSP_000072" "g.7583885T>C" "" "" "" "DSP(NM_004415.2):c.6390T>C (p.A2130=), DSP(NM_004415.4):c.6390T>C (p.A2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583652T>C" "" "benign" "" "0000265615" "0" "50" "6" "7583944" "7583944" "subst" "4.06379E-6" "02330" "DSP_000122" "g.7583944C>G" "" "" "" "DSP(NM_004415.2):c.6449C>G (p.A2150G), DSP(NM_004415.4):c.6449C>G (p.(Ala2150Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583711C>G" "" "VUS" "" "0000265616" "0" "10" "6" "7584047" "7584047" "subst" "0" "02330" "DSP_000520" "g.7584047G>A" "" "" "" "DSP(NM_004415.2):c.6552G>A (p.V2184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583814G>A" "" "benign" "" "0000265617" "0" "50" "6" "7584078" "7584078" "subst" "0" "02330" "DSP_000521" "g.7584078C>T" "" "" "" "DSP(NM_004415.2):c.6583C>T (p.H2195Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583845C>T" "" "VUS" "" "0000265618" "0" "10" "6" "7584173" "7584173" "subst" "0.00125104" "02330" "DSP_000255" "g.7584173T>A" "" "" "" "DSP(NM_004415.2):c.6678T>A (p.G2226=), DSP(NM_004415.4):c.6678T>A (p.G2226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583940T>A" "" "benign" "" "0000265619" "0" "70" "6" "7584345" "7584345" "subst" "0" "02330" "DSP_000257" "g.7584345C>T" "" "" "" "DSP(NM_004415.2):c.6850C>T (p.R2284*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584112C>T" "" "likely pathogenic" "" "0000265620" "0" "30" "6" "7584376" "7584376" "subst" "0.000795874" "02330" "DSP_000123" "g.7584376C>G" "" "" "" "DSP(NM_004415.2):c.6881C>G (p.A2294G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584143C>G" "" "likely benign" "" "0000265621" "0" "30" "6" "7562975" "7562975" "subst" "0.000536128" "02330" "DSP_000158" "g.7562975G>A" "" "" "" "DSP(NM_004415.2):c.688G>A (p.D230N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7562742G>A" "" "likely benign" "" "0000265622" "0" "10" "6" "7584617" "7584617" "subst" "0.289351" "02330" "DSP_000076" "g.7584617C>T" "" "" "" "DSP(NM_004415.2):c.7122C>T (p.T2374=), DSP(NM_004415.4):c.7122C>T (p.T2374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584384C>T" "" "benign" "" "0000265623" "0" "10" "6" "7584620" "7584620" "subst" "6.90417E-5" "02330" "DSP_000528" "g.7584620G>A" "" "" "" "DSP(NM_004415.2):c.7125G>A (p.G2375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584387G>A" "" "benign" "" "0000265624" "0" "10" "6" "7563983" "7563983" "subst" "0.999208" "02330" "DSP_000013" "g.7563983T>G" "" "" "" "DSP(NM_004415.2):c.741T>G (p.A247=), DSP(NM_004415.4):c.741T>G (p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7563750T>G" "" "benign" "" "0000265625" "0" "50" "6" "7584930" "7584930" "subst" "0" "02330" "DSP_000532" "g.7584930G>C" "" "" "" "DSP(NM_004415.2):c.7435G>C (p.V2479L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584697G>C" "" "VUS" "" "0000265626" "0" "10" "6" "7585229" "7585229" "subst" "0.000198967" "02330" "DSP_000081" "g.7585229C>T" "" "" "" "DSP(NM_004415.2):c.7734C>T (p.S2578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584996C>T" "" "benign" "" "0000265627" "0" "10" "6" "7585411" "7585411" "subst" "0.000862848" "02330" "DSP_000082" "g.7585411G>A" "" "" "" "DSP(NM_004415.2):c.7916G>A (p.R2639Q), DSP(NM_004415.4):c.7916G>A (p.R2639Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585178G>A" "" "benign" "" "0000265628" "0" "10" "6" "7585514" "7585514" "subst" "0.000195305" "02330" "DSP_000268" "g.7585514C>T" "" "" "" "DSP(NM_004415.2):c.8019C>T (p.D2673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585281C>T" "" "benign" "" "0000265629" "0" "10" "6" "7585670" "7585670" "subst" "0.0462358" "02330" "DSP_000084" "g.7585670C>A" "" "" "" "DSP(NM_004415.2):c.8175C>A (p.R2725=), DSP(NM_004415.4):c.8175C>A (p.(Arg2725=), p.R2725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585437C>A" "" "benign" "" "0000265630" "0" "10" "6" "7585686" "7585686" "subst" "0.00258308" "02330" "DSP_000298" "g.7585686T>C" "" "" "" "DSP(NM_004415.2):c.8191T>C (p.Y2731H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585453T>C" "" "benign" "" "0000265631" "0" "10" "6" "7542229" "7542229" "subst" "3.84652E-5" "02330" "DSP_000343" "g.7542229C>A" "" "" "" "DSP(NM_004415.2):c.81C>A (p.R27=), DSP(NM_004415.4):c.81C>A (p.R27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7541996C>A" "" "benign" "" "0000265632" "0" "50" "6" "7585726" "7585726" "subst" "0" "02330" "DSP_000543" "g.7585726G>A" "" "" "" "DSP(NM_004415.2):c.8231G>A (p.R2744K), DSP(NM_004415.4):c.8231G>A (p.R2744K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585493G>A" "" "VUS" "" "0000265633" "0" "10" "6" "7585733" "7585733" "subst" "0" "02330" "DSP_000544" "g.7585733C>T" "" "" "" "DSP(NM_004415.2):c.8238C>T (p.S2746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585500C>T" "" "benign" "" "0000265634" "0" "50" "6" "7585750" "7585750" "subst" "2.03135E-5" "02330" "DSP_000545" "g.7585750G>A" "" "" "" "DSP(NM_004415.2):c.8255G>A (p.R2752Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585517G>A" "" "VUS" "" "0000265635" "0" "10" "6" "7585795" "7585795" "subst" "0.00162877" "02330" "DSP_000085" "g.7585795C>A" "" "" "" "DSP(NM_004415.2):c.8300C>A (p.T2767N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585562C>A" "" "benign" "" "0000265636" "0" "10" "6" "7585796" "7585796" "subst" "0.000633641" "02330" "DSP_000547" "g.7585796C>G" "" "" "" "DSP(NM_004415.2):c.8301C>G (p.T2767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585563C>G" "" "benign" "" "0000265637" "0" "10" "6" "7585967" "7585967" "subst" "0.713746" "02330" "DSP_000086" "g.7585967G>C" "" "" "" "DSP(NM_004415.2):c.8472G>C (p.G2824=), DSP(NM_004415.2):c.8472_8484delGTCCCGCTCCGGCinsCTCCCGCTCCGGC (p.G2824_G2828=), DSP(NM_004415.4):c.8472G>C ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585734G>C" "" "benign" "" "0000265639" "0" "10" "6" "7565771" "7565771" "subst" "2.44166E-5" "02330" "DSP_000382" "g.7565771G>A" "" "" "" "DSP(NM_004415.2):c.939+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565538G>A" "" "benign" "" "0000265641" "0" "50" "6" "7566614" "7566614" "subst" "4.07727E-6" "02330" "DSP_000384" "g.7566614G>A" "" "" "" "DSP(NM_004415.2):c.944G>A (p.R315H), DSP(NM_004415.4):c.944G>A (p.R315H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7566381G>A" "" "VUS" "" "0000265642" "0" "10" "6" "7566627" "7566627" "subst" "0" "02330" "DSP_000385" "g.7566627G>C" "" "" "" "DSP(NM_004415.2):c.957G>C (p.L319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7566394G>C" "" "benign" "" "0000267586" "0" "90" "6" "7566715" "7566715" "subst" "0" "02325" "DSP_000386" "g.7566715G>T" "" "" "" "DSP(NM_004415.4):c.1044+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7566482G>T" "" "pathogenic" "" "0000267587" "0" "10" "6" "7542253" "7542253" "subst" "0.0053285" "02325" "DSP_000091" "g.7542253G>A" "" "" "" "DSP(NM_004415.2):c.105G>A (p.G35=), DSP(NM_004415.4):c.105G>A (p.(Gly35=), p.G35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542020G>A" "" "benign" "" "0000267588" "0" "50" "6" "7567680" "7567680" "subst" "0" "02325" "DSP_000388" "g.7567680C>A" "" "" "" "DSP(NM_004415.4):c.1138C>A (p.Q380K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567447C>A" "" "VUS" "" "0000267590" "0" "30" "6" "7568079" "7568079" "subst" "0.00140258" "02325" "DSP_000103" "g.7568079G>A" "" "" "" "DSP(NM_004415.2):c.1206G>A (p.K402=), DSP(NM_004415.4):c.1206G>A (p.K402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567846G>A" "" "likely benign" "" "0000267591" "0" "10" "6" "7542274" "7542274" "subst" "0.0545796" "02325" "DSP_000003" "g.7542274T>C" "" "" "" "DSP(NM_004415.2):c.126T>C (p.Y42=), DSP(NM_004415.4):c.126T>C (p.Y42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542041T>C" "" "benign" "" "0000267592" "0" "30" "6" "7542280" "7542280" "subst" "0" "02325" "DSP_000349" "g.7542280G>A" "" "" "" "DSP(NM_004415.2):c.132G>A (p.R44=), DSP(NM_004415.4):c.132G>A (p.R44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542047G>A" "" "likely benign" "" "0000267593" "0" "50" "6" "7569486" "7569486" "subst" "2.43683E-5" "02325" "DSP_000397" "g.7569486C>T" "" "" "" "DSP(NM_004415.4):c.1487C>T (p.T496M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569253C>T" "" "VUS" "" "0000267594" "0" "30" "6" "7569487" "7569487" "subst" "0.00105597" "02325" "DSP_000026" "g.7569487G>A" "" "" "" "DSP(NM_004415.2):c.1488G>A (p.T496=), DSP(NM_004415.4):c.1488G>A (p.T496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569254G>A" "" "likely benign" "" "0000267595" "0" "30" "6" "7569587" "7569587" "subst" "0.000422689" "02325" "DSP_000104" "g.7569587G>T" "" "" "" "DSP(NM_004415.2):c.1574+14G>T, DSP(NM_004415.4):c.1574+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569354G>T" "" "likely benign" "" "0000267596" "0" "30" "6" "7570655" "7570655" "subst" "7.31083E-5" "02325" "DSP_000402" "g.7570655C>G" "" "" "" "DSP(NM_004415.2):c.1575-15C>G, DSP(NM_004415.4):c.1575-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7570422C>G" "" "likely benign" "" "0000267597" "0" "30" "6" "7570685" "7570685" "subst" "2.03112E-5" "02325" "DSP_000403" "g.7570685C>T" "" "" "" "DSP(NM_004415.4):c.1590C>T (p.Y530=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7570452C>T" "" "likely benign" "" "0000267598" "0" "70" "6" "7570765" "7570766" "del" "0" "02325" "DSP_000404" "g.7570765_7570766del" "" "" "" "DSP(NM_004415.2):c.1670_1671delTA (p.I557Rfs*27), DSP(NM_004415.4):c.1670_1671delTA (p.I557Rfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7570532_7570533del" "" "likely pathogenic" "" "0000267599" "0" "50" "6" "7571628" "7571628" "subst" "8.12935E-6" "02325" "DSP_000407" "g.7571628C>T" "" "" "" "DSP(NM_004415.4):c.1714C>T (p.R572W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571395C>T" "" "VUS" "" "0000267600" "0" "30" "6" "7572058" "7572058" "subst" "7.032E-5" "02325" "DSP_000107" "g.7572058C>G" "" "" "" "DSP(NM_004415.2):c.1904-17C>G, DSP(NM_004415.4):c.1904-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571825C>G" "" "likely benign" "" "0000267601" "0" "10" "6" "7572091" "7572091" "subst" "0.000413169" "02325" "DSP_000565" "g.7572091C>T" "" "" "" "DSP(NM_004415.2):c.1920C>T (p.I640=), DSP(NM_004415.4):c.1920C>T (p.I640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571858C>T" "" "benign" "" "0000267602" "0" "90" "6" "7555976" "7555976" "subst" "0" "02325" "DSP_000352" "g.7555976C>T" "" "" "" "DSP(NM_004415.4):c.196C>T (p.Q66*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555743C>T" "" "pathogenic" "" "0000267603" "0" "10" "6" "7542149" "7542149" "dup" "0" "02325" "DSP_000001" "g.7542149dup" "" "" "" "DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7541916dup" "" "benign" "" "0000267606" "0" "70" "6" "7572303" "7572304" "del" "0" "02325" "DSP_000570" "g.7572303_7572304del" "" "" "" "DSP(NM_004415.4):c.2130+2_2130+3delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7572070_7572071del" "" "likely pathogenic" "" "0000267607" "0" "70" "6" "7574319" "7574320" "del" "0" "02325" "DSP_000571" "g.7574319_7574320del" "" "" "" "DSP(NM_004415.4):c.2131_2132delAG (p.S711Cfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574086_7574087del" "" "likely pathogenic" "" "0000267608" "0" "90" "6" "7574487" "7574487" "subst" "0" "02325" "DSP_000573" "g.7574487T>A" "" "" "" "DSP(NM_004415.2):c.2297+2T>A, DSP(NM_004415.4):c.2297+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574254T>A" "" "pathogenic" "" "0000267609" "0" "30" "6" "7574938" "7574938" "subst" "0.00130829" "02325" "DSP_000194" "g.7574938C>T" "" "" "" "DSP(NM_004415.2):c.2346C>T (p.D782=), DSP(NM_004415.4):c.2346C>T (p.(Asp782=), p.D782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574705C>T" "" "likely benign" "" "0000267610" "0" "50" "6" "7575014" "7575014" "subst" "0.000296492" "02325" "DSP_000196" "g.7575014C>T" "" "" "" "DSP(NM_004415.2):c.2422C>T (p.R808C), DSP(NM_004415.4):c.2422C>T (p.R808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574781C>T" "" "VUS" "" "0000267611" "0" "30" "6" "7575517" "7575517" "del" "0" "02325" "DSP_000411" "g.7575517del" "" "" "" "DSP(NM_004415.4):c.2437-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7575284del" "" "likely benign" "" "0000267612" "0" "90" "6" "7556030" "7556030" "subst" "0" "02325" "DSP_000353" "g.7556030C>T" "" "" "" "DSP(NM_004415.4):c.250C>T (p.R84*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555797C>T" "" "pathogenic" "" "0000267613" "0" "30" "6" "7575739" "7575739" "subst" "0.00147104" "02325" "DSP_000415" "g.7575739C>T" "" "" "" "DSP(NM_004415.2):c.2630+18C>T, DSP(NM_004415.4):c.2630+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7575506C>T" "" "likely benign" "" "0000267614" "0" "30" "6" "7575740" "7575740" "subst" "6.54231E-5" "02325" "DSP_000416" "g.7575740G>A" "" "" "" "DSP(NM_004415.4):c.2630+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7575507G>A" "" "likely benign" "" "0000267615" "0" "10" "6" "7576527" "7576527" "subst" "0.774109" "02325" "DSP_000042" "g.7576527G>A" "" "" "" "DSP(NM_004415.2):c.2631G>A (p.R877=), DSP(NM_004415.4):c.2631G>A (p.R877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576294G>A" "" "benign" "" "0000267616" "0" "10" "6" "7556063" "7556063" "subst" "0.0235482" "02325" "DSP_000006" "g.7556063C>T" "" "" "" "DSP(NM_004415.2):c.273+10C>T, DSP(NM_004415.4):c.273+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555830C>T" "" "benign" "" "0000267617" "0" "50" "6" "7556058" "7556058" "subst" "0.000277823" "02325" "DSP_000137" "g.7556058G>A" "" "" "" "DSP(NM_004415.2):c.273+5G>A (p.?), DSP(NM_004415.4):c.273+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555825G>A" "" "VUS" "" "0000267618" "0" "30" "6" "7577213" "7577213" "subst" "0.00276531" "02325" "DSP_000114" "g.7577213G>A" "" "" "" "DSP(NM_004415.2):c.2815G>A (p.G939S), DSP(NM_004415.4):c.2815G>A (p.G939S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576980G>A" "" "likely benign" "" "0000267619" "0" "10" "6" "7577260" "7577260" "subst" "0.239441" "02325" "DSP_000043" "g.7577260C>T" "" "" "" "DSP(NM_004415.2):c.2862C>T (p.C954=), DSP(NM_004415.4):c.2862C>T (p.C954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577027C>T" "" "benign" "" "0000267621" "0" "50" "6" "7578715" "7578715" "subst" "4.06392E-5" "02325" "DSP_000430" "g.7578715C>T" "" "" "" "DSP(NM_001008844.1):c.3004C>T (p.(Arg1002Trp)), DSP(NM_004415.2):c.3004C>T (p.R1002W), DSP(NM_004415.4):c.3004C>T (p.R1002W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7578482C>T" "" "VUS" "" "0000267622" "0" "30" "6" "7579570" "7579570" "subst" "2.43984E-5" "02325" "DSP_000438" "g.7579570G>A" "" "" "" "DSP(NM_004415.2):c.3147G>A (p.S1049=), DSP(NM_004415.4):c.3147G>A (p.S1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579337G>A" "" "likely benign" "" "0000267623" "0" "50" "6" "7579585" "7579587" "del" "0" "02325" "DSP_000439" "g.7579585_7579587del" "" "" "" "DSP(NM_004415.2):c.3162_3164delGAA (p.K1054del), DSP(NM_004415.4):c.3162_3164delGAA (p.K1054del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579352_7579354del" "" "VUS" "" "0000267624" "0" "10" "6" "7579933" "7579933" "subst" "0.00230411" "02325" "DSP_000055" "g.7579933G>A" "" "" "" "DSP(NM_004415.2):c.3510G>A (p.E1170=), DSP(NM_004415.4):c.3510G>A (p.E1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579700G>A" "" "benign" "" "0000267625" "0" "50" "6" "7579985" "7579985" "subst" "8.56088E-5" "02325" "DSP_000443" "g.7579985T>C" "" "" "" "DSP(NM_004415.2):c.3562T>C (p.Y1188H), DSP(NM_004415.4):c.3562T>C (p.(Tyr1188His), p.Y1188H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579752T>C" "" "VUS" "" "0000267626" "0" "30" "6" "7580073" "7580073" "subst" "0.000361924" "02325" "DSP_000215" "g.7580073C>T" "" "" "" "DSP(NM_004415.2):c.3650C>T (p.T1217M), DSP(NM_004415.4):c.3650C>T (p.T1217M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579840C>T" "" "likely benign" "" "0000267627" "0" "90" "6" "7580222" "7580222" "subst" "0" "02325" "DSP_000057" "g.7580222C>T" "" "" "" "DSP(NM_004415.4):c.3799C>T (p.R1267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579989C>T" "" "pathogenic" "" "0000267628" "0" "30" "6" "7580346" "7580346" "subst" "0.00120575" "02325" "DSP_000058" "g.7580346G>A" "" "" "" "DSP(NM_004415.2):c.3923G>A (p.R1308Q, p.(Arg1308Gln)), DSP(NM_004415.4):c.3923G>A (p.R1308Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580113G>A" "" "likely benign" "" "0000267629" "0" "50" "6" "7580442" "7580442" "subst" "2.03568E-5" "02325" "DSP_000457" "g.7580442G>A" "" "" "" "DSP(NM_004415.2):c.4019G>A (p.R1340H), DSP(NM_004415.4):c.4019G>A (p.R1340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580209G>A" "" "VUS" "" "0000267630" "0" "30" "6" "7580488" "7580488" "subst" "0.00083133" "02325" "DSP_000117" "g.7580488T>C" "" "" "" "DSP(NM_004415.2):c.4065T>C (p.Y1355=), DSP(NM_004415.4):c.4065T>C (p.Y1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580255T>C" "" "likely benign" "" "0000267631" "0" "30" "6" "7580635" "7580635" "subst" "0" "02325" "DSP_000467" "g.7580635C>T" "" "" "" "DSP(NM_004415.4):c.4212C>T (p.S1404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580402C>T" "" "likely benign" "" "0000267632" "0" "30" "6" "7559443" "7559444" "ins" "0.00788963" "02325" "DSP_000167" "g.7559443_7559444insC" "" "" "" "DSP(NM_004415.2):c.423-16_423-15insC, DSP(NM_004415.4):c.423-15delTinsCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559210_7559211insC" "" "likely benign" "" "0000267633" "0" "30" "6" "7559450" "7559450" "dup" "0" "02325" "DSP_000363" "g.7559450dup" "" "" "" "DSP(NM_004415.2):c.423-9dupT, DSP(NM_004415.4):c.423-8delCinsTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559217dup" "" "likely benign" "" "0000267634" "0" "50" "6" "7559460" "7559460" "subst" "2.8571E-5" "02325" "DSP_000364" "g.7559460C>T" "" "" "" "DSP(NM_004415.2):c.424C>T (p.L142F), DSP(NM_004415.4):c.424C>T (p.L142F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559227C>T" "" "VUS" "" "0000267635" "0" "30" "6" "7580806" "7580806" "subst" "0.00194765" "02325" "DSP_000118" "g.7580806G>A" "" "" "" "DSP(NM_004415.2):c.4383G>A (p.E1461=), DSP(NM_004415.4):c.4383G>A (p.E1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580573G>A" "" "likely benign" "" "0000267636" "0" "50" "6" "7580810" "7580810" "subst" "2.03358E-5" "02325" "DSP_000473" "g.7580810G>A" "" "" "" "DSP(NM_004415.2):c.4387G>A (p.V1463I), DSP(NM_004415.4):c.4387G>A (p.V1463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580577G>A" "" "VUS" "" "0000267637" "0" "50" "6" "7580873" "7580873" "subst" "0" "02325" "DSP_000476" "g.7580873G>C" "" "" "" "DSP(NM_004415.4):c.4450G>C (p.E1484Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580640G>C" "" "VUS" "" "0000267638" "0" "30" "6" "7580878" "7580878" "subst" "0.00138513" "02325" "DSP_000477" "g.7580878G>T" "" "" "" "DSP(NM_004415.2):c.4455G>T (p.R1485S), DSP(NM_004415.4):c.4455G>T (p.R1485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580645G>T" "" "likely benign" "" "0000267639" "0" "10" "6" "7581001" "7581001" "subst" "0.0106141" "02325" "DSP_000062" "g.7581001C>A" "" "" "" "DSP(NM_004415.2):c.4578C>A (p.N1526K), DSP(NM_004415.4):c.4578C>A (p.(Asn1526Lys), p.N1526K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580768C>A" "" "benign" "" "0000267640" "0" "90" "6" "7581031" "7581035" "del" "0" "02325" "DSP_000486" "g.7581031_7581035del" "" "" "" "DSP(NM_004415.2):c.4608_4612delACGCC (p.R1537Efs*5), DSP(NM_004415.4):c.4608_4612delACGCC (p.R1537Efs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580798_7580802del" "" "pathogenic" "" "0000267641" "0" "30" "6" "7581032" "7581032" "subst" "0.00874909" "02325" "DSP_000063" "g.7581032C>T" "" "" "" "DSP(NM_004415.2):c.4609C>T (p.R1537C), DSP(NM_004415.4):c.4609C>T (p.R1537C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580799C>T" "" "likely benign" "" "0000267642" "0" "30" "6" "7581196" "7581196" "subst" "0.0139939" "02325" "DSP_000065" "g.7581196G>A" "" "" "" "DSP(NM_004415.2):c.4773G>A (p.R1591=), DSP(NM_004415.4):c.4773G>A (p.(Arg1591=), p.R1591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580963G>A" "" "likely benign" "" "0000267643" "0" "70" "6" "7581424" "7581424" "del" "0" "02325" "DSP_000491" "g.7581424del" "" "" "" "DSP(NM_004415.4):c.5001delG (p.Q1667Hfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581191del" "" "likely pathogenic" "" "0000267644" "0" "50" "6" "7581458" "7581458" "subst" "4.06693E-6" "02325" "DSP_000493" "g.7581458C>T" "" "" "" "DSP(NM_004415.2):c.5035C>T (p.H1679Y), DSP(NM_004415.4):c.5035C>T (p.H1679Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581225C>T" "" "VUS" "" "0000267645" "0" "30" "6" "7581601" "7581601" "subst" "0.000739501" "02325" "DSP_000119" "g.7581601C>A" "" "" "" "DSP(NM_004415.2):c.5178C>A (p.N1726K), DSP(NM_004415.4):c.5178C>A (p.N1726K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581368C>A" "" "likely benign" "" "0000267646" "0" "10" "6" "7581636" "7581636" "subst" "0.172202" "02325" "DSP_000067" "g.7581636G>A" "" "" "" "DSP(NM_004415.2):c.5213G>A (p.R1738Q), DSP(NM_004415.4):c.5213G>A (p.R1738Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581403G>A" "" "benign" "" "0000267647" "0" "30" "6" "7559558" "7559558" "subst" "0.00030887" "02325" "DSP_000368" "g.7559558T>C" "" "" "" "DSP(NM_004415.2):c.522T>C (p.C174=), DSP(NM_004415.4):c.522T>C (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559325T>C" "" "likely benign" "" "0000267648" "0" "50" "6" "7581747" "7581747" "subst" "6.50994E-5" "02325" "DSP_000068" "g.7581747G>T" "" "" "" "DSP(NM_004415.2):c.5324G>T (p.R1775I), DSP(NM_004415.4):c.5324G>T (p.(Arg1775Ile), p.R1775I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581514G>T" "" "VUS" "" "0000267649" "0" "50" "6" "7583290" "7583290" "subst" "2.44497E-5" "02325" "DSP_000503" "g.7583290G>A" "" "" "" "DSP(NM_004415.2):c.5795G>A (p.R1932H), DSP(NM_004415.4):c.5795G>A (p.R1932H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583057G>A" "" "VUS" "" "0000267650" "0" "50" "6" "7583554" "7583554" "subst" "8.12856E-6" "02325" "DSP_000507" "g.7583554G>C" "" "" "" "DSP(NM_004415.2):c.6059G>C (p.G2020A), DSP(NM_004415.4):c.6059G>C (p.G2020A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583321G>C" "" "VUS" "" "0000267651" "0" "90" "6" "7583831" "7583831" "del" "0" "02325" "DSP_000513" "g.7583831del" "" "" "" "DSP(NM_004415.2):c.6336delG (p.N2114Ifs*2), DSP(NM_004415.4):c.6336delG (p.N2114Ifs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583598del" "" "pathogenic" "" "0000267652" "0" "10" "6" "7583885" "7583885" "subst" "0.00959819" "02325" "DSP_000072" "g.7583885T>C" "" "" "" "DSP(NM_004415.2):c.6390T>C (p.A2130=), DSP(NM_004415.4):c.6390T>C (p.A2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583652T>C" "" "benign" "" "0000267653" "0" "30" "6" "7584173" "7584173" "subst" "0.00125104" "02325" "DSP_000255" "g.7584173T>A" "" "" "" "DSP(NM_004415.2):c.6678T>A (p.G2226=), DSP(NM_004415.4):c.6678T>A (p.G2226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583940T>A" "" "likely benign" "" "0000267654" "0" "10" "6" "7584617" "7584617" "subst" "0.289351" "02325" "DSP_000076" "g.7584617C>T" "" "" "" "DSP(NM_004415.2):c.7122C>T (p.T2374=), DSP(NM_004415.4):c.7122C>T (p.T2374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584384C>T" "" "benign" "" "0000267655" "0" "10" "6" "7563983" "7563983" "subst" "0.999208" "02325" "DSP_000013" "g.7563983T>G" "" "" "" "DSP(NM_004415.2):c.741T>G (p.A247=), DSP(NM_004415.4):c.741T>G (p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7563750T>G" "" "benign" "" "0000267656" "0" "50" "6" "7585117" "7585117" "subst" "1.62423E-5" "02325" "DSP_000079" "g.7585117G>A" "" "" "" "DSP(NM_004415.4):c.7622G>A (p.R2541K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584884G>A" "" "VUS" "" "0000267657" "0" "10" "6" "7585670" "7585670" "subst" "0.0462358" "02325" "DSP_000084" "g.7585670C>A" "" "" "" "DSP(NM_004415.2):c.8175C>A (p.R2725=), DSP(NM_004415.4):c.8175C>A (p.(Arg2725=), p.R2725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585437C>A" "" "benign" "" "0000267658" "0" "30" "6" "7542229" "7542229" "subst" "3.84652E-5" "02325" "DSP_000343" "g.7542229C>A" "" "" "" "DSP(NM_004415.2):c.81C>A (p.R27=), DSP(NM_004415.4):c.81C>A (p.R27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7541996C>A" "" "likely benign" "" "0000267659" "0" "10" "6" "7585967" "7585967" "subst" "0.713746" "02325" "DSP_000086" "g.7585967G>C" "" "" "" "DSP(NM_004415.2):c.8472G>C (p.G2824=), DSP(NM_004415.2):c.8472_8484delGTCCCGCTCCGGCinsCTCCCGCTCCGGC (p.G2824_G2828=), DSP(NM_004415.4):c.8472G>C ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585734G>C" "" "benign" "" "0000267660" "0" "50" "6" "7585995" "7585995" "subst" "3.314E-5" "02325" "DSP_000125" "g.7585995C>T" "" "" "" "DSP(NM_004415.2):c.8500C>T (p.R2834C), DSP(NM_004415.4):c.8500C>T (p.R2834C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585762C>T" "" "VUS" "" "0000267661" "0" "30" "6" "7565770" "7565770" "subst" "0.00030109" "02325" "DSP_000381" "g.7565770C>T" "" "" "" "DSP(NM_004415.2):c.939+17C>T, DSP(NM_004415.4):c.939+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565537C>T" "" "likely benign" "" "0000267662" "0" "30" "6" "7565753" "7565753" "subst" "7.32082E-5" "02325" "DSP_000380" "g.7565753C>T" "" "" "" "DSP(NM_004415.2):c.939C>T (p.S313=), DSP(NM_004415.4):c.939C>T (p.S313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565520C>T" "" "likely benign" "" "0000270953" "0" "10" "6" "7542253" "7542253" "subst" "0.0053285" "02326" "DSP_000091" "g.7542253G>A" "" "" "" "DSP(NM_004415.2):c.105G>A (p.G35=), DSP(NM_004415.4):c.105G>A (p.(Gly35=), p.G35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542020G>A" "" "benign" "" "0000270954" "0" "30" "6" "7568079" "7568079" "subst" "0.00140258" "02326" "DSP_000103" "g.7568079G>A" "" "" "" "DSP(NM_004415.2):c.1206G>A (p.K402=), DSP(NM_004415.4):c.1206G>A (p.K402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567846G>A" "" "likely benign" "" "0000270955" "0" "30" "6" "7568145" "7568145" "subst" "0.000517704" "02326" "DSP_000155" "g.7568145G>T" "" "" "" "DSP(NM_004415.2):c.1266+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567912G>T" "" "likely benign" "" "0000270956" "0" "10" "6" "7542274" "7542274" "subst" "0.0545796" "02326" "DSP_000003" "g.7542274T>C" "" "" "" "DSP(NM_004415.2):c.126T>C (p.Y42=), DSP(NM_004415.4):c.126T>C (p.Y42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542041T>C" "" "benign" "" "0000270957" "0" "30" "6" "7569487" "7569487" "subst" "0.00105597" "02326" "DSP_000026" "g.7569487G>A" "" "" "" "DSP(NM_004415.2):c.1488G>A (p.T496=), DSP(NM_004415.4):c.1488G>A (p.T496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569254G>A" "" "likely benign" "" "0000270958" "0" "30" "6" "7569587" "7569587" "subst" "0.000422689" "02326" "DSP_000104" "g.7569587G>T" "" "" "" "DSP(NM_004415.2):c.1574+14G>T, DSP(NM_004415.4):c.1574+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569354G>T" "" "likely benign" "" "0000270959" "0" "30" "6" "7570791" "7570791" "subst" "0.000195282" "02326" "DSP_000029" "g.7570791G>A" "" "" "" "DSP(NM_004415.2):c.1696G>A (p.A566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7570558G>A" "" "likely benign" "" "0000270961" "0" "30" "6" "7574938" "7574938" "subst" "0.00130829" "02326" "DSP_000194" "g.7574938C>T" "" "" "" "DSP(NM_004415.2):c.2346C>T (p.D782=), DSP(NM_004415.4):c.2346C>T (p.(Asp782=), p.D782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574705C>T" "" "likely benign" "" "0000270962" "0" "10" "6" "7576527" "7576527" "subst" "0.774109" "02326" "DSP_000042" "g.7576527G>A" "" "" "" "DSP(NM_004415.2):c.2631G>A (p.R877=), DSP(NM_004415.4):c.2631G>A (p.R877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576294G>A" "" "benign" "" "0000270963" "0" "10" "6" "7576569" "7576569" "subst" "0.00162566" "02326" "DSP_000202" "g.7576569T>C" "" "" "" "DSP(NM_004415.2):c.2673T>C (p.Y891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576336T>C" "" "benign" "" "0000270964" "0" "10" "6" "7556063" "7556063" "subst" "0.0235482" "02326" "DSP_000006" "g.7556063C>T" "" "" "" "DSP(NM_004415.2):c.273+10C>T, DSP(NM_004415.4):c.273+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555830C>T" "" "benign" "" "0000270965" "0" "10" "6" "7577213" "7577213" "subst" "0.00276531" "02326" "DSP_000114" "g.7577213G>A" "" "" "" "DSP(NM_004415.2):c.2815G>A (p.G939S), DSP(NM_004415.4):c.2815G>A (p.G939S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576980G>A" "" "benign" "" "0000270966" "0" "10" "6" "7577260" "7577260" "subst" "0.239441" "02326" "DSP_000043" "g.7577260C>T" "" "" "" "DSP(NM_004415.2):c.2862C>T (p.C954=), DSP(NM_004415.4):c.2862C>T (p.C954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577027C>T" "" "benign" "" "0000270967" "0" "50" "6" "7578716" "7578716" "subst" "4.47067E-5" "02326" "DSP_000431" "g.7578716G>A" "" "" "" "DSP(NM_004415.2):c.3005G>A (p.R1002Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7578483G>A" "" "VUS" "" "0000270968" "0" "30" "6" "7579393" "7579393" "subst" "0" "02326" "DSP_000434" "g.7579393C>T" "" "" "" "DSP(NM_004415.2):c.3085-115C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579160C>T" "" "likely benign" "" "0000270969" "0" "30" "6" "7579726" "7579726" "subst" "4.07495E-5" "02326" "DSP_000115" "g.7579726C>T" "" "" "" "DSP(NM_004415.2):c.3303C>T (p.Y1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579493C>T" "" "likely benign" "" "0000270970" "0" "50" "6" "7580114" "7580114" "subst" "0" "02326" "DSP_000445" "g.7580114G>A" "" "" "" "DSP(NM_004415.2):c.3691G>A (p.D1231N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579881G>A" "" "VUS" "" "0000270971" "0" "50" "6" "7558461" "7558461" "subst" "0" "02326" "DSP_000356" "g.7558461G>C" "" "" "" "DSP(NM_004415.2):c.386G>C (p.R129P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7558228G>C" "" "VUS" "" "0000270972" "0" "30" "6" "7580345" "7580345" "subst" "8.14618E-5" "02326" "DSP_000451" "g.7580345C>T" "" "" "" "DSP(NM_004415.2):c.3922C>T (p.R1308W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580112C>T" "" "likely benign" "" "0000270973" "0" "30" "6" "7580395" "7580395" "subst" "0" "02326" "DSP_000455" "g.7580395T>C" "" "" "" "DSP(NM_004415.2):c.3972T>C (p.N1324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580162T>C" "" "likely benign" "" "0000270974" "0" "50" "6" "7580441" "7580441" "subst" "4.0715E-6" "02326" "DSP_000456" "g.7580441C>G" "" "" "" "DSP(NM_004415.2):c.4018C>G (p.R1340G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580208C>G" "" "VUS" "" "0000270975" "0" "10" "6" "7580488" "7580488" "subst" "0.00083133" "02326" "DSP_000117" "g.7580488T>C" "" "" "" "DSP(NM_004415.2):c.4065T>C (p.Y1355=), DSP(NM_004415.4):c.4065T>C (p.Y1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580255T>C" "" "benign" "" "0000270976" "0" "50" "6" "7580589" "7580589" "subst" "0" "02326" "DSP_000464" "g.7580589G>A" "" "" "" "DSP(NM_004415.2):c.4166G>A (p.S1389N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580356G>A" "" "VUS" "" "0000270978" "0" "30" "6" "7580668" "7580668" "subst" "0" "02326" "DSP_000468" "g.7580668T>G" "" "" "" "DSP(NM_004415.2):c.4245T>G (p.T1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580435T>G" "" "likely benign" "" "0000270979" "0" "30" "6" "7580806" "7580806" "subst" "0.00194765" "02326" "DSP_000118" "g.7580806G>A" "" "" "" "DSP(NM_004415.2):c.4383G>A (p.E1461=), DSP(NM_004415.4):c.4383G>A (p.E1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580573G>A" "" "likely benign" "" "0000270980" "0" "10" "6" "7580878" "7580878" "subst" "0.00138513" "02326" "DSP_000477" "g.7580878G>T" "" "" "" "DSP(NM_004415.2):c.4455G>T (p.R1485S), DSP(NM_004415.4):c.4455G>T (p.R1485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580645G>T" "" "benign" "" "0000270981" "0" "10" "6" "7581011" "7581011" "subst" "0.00175808" "02326" "DSP_000229" "g.7581011G>T" "" "" "" "DSP(NM_004415.2):c.4588G>T (p.V1530F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580778G>T" "" "benign" "" "0000270982" "0" "90" "6" "7581031" "7581035" "del" "0" "02326" "DSP_000485" "g.7581031_7581035del" "" "" "" "DSP(NM_004415.2):c.4608_4612delACGCC (p.R1537Efs*5), DSP(NM_004415.4):c.4608_4612delACGCC (p.R1537Efs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580798_7580802del" "" "pathogenic" "" "0000270983" "0" "10" "6" "7581032" "7581032" "subst" "0.00874909" "02326" "DSP_000063" "g.7581032C>T" "" "" "" "DSP(NM_004415.2):c.4609C>T (p.R1537C), DSP(NM_004415.4):c.4609C>T (p.R1537C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580799C>T" "" "benign" "" "0000270984" "0" "10" "6" "7581196" "7581196" "subst" "0.0139939" "02326" "DSP_000065" "g.7581196G>A" "" "" "" "DSP(NM_004415.2):c.4773G>A (p.R1591=), DSP(NM_004415.4):c.4773G>A (p.(Arg1591=), p.R1591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580963G>A" "" "benign" "" "0000270985" "0" "50" "6" "7559521" "7559521" "subst" "8.13094E-6" "02326" "DSP_000366" "g.7559521G>T" "" "" "" "DSP(NM_004415.2):c.485G>T (p.R162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7559288G>T" "" "VUS" "" "0000270986" "0" "30" "6" "7581419" "7581419" "subst" "5.28623E-5" "02326" "DSP_000332" "g.7581419C>T" "" "" "" "DSP(NM_004415.2):c.4996C>T (p.R1666W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581186C>T" "" "likely benign" "" "0000270987" "0" "70" "6" "7581455" "7581455" "subst" "0" "02326" "DSP_000492" "g.7581455G>A" "" "" "" "DSP(NM_004415.2):c.5032G>A (p.A1678T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581222G>A" "" "likely pathogenic" "" "0000270988" "0" "30" "6" "7581601" "7581601" "subst" "0.000739501" "02326" "DSP_000119" "g.7581601C>A" "" "" "" "DSP(NM_004415.2):c.5178C>A (p.N1726K), DSP(NM_004415.4):c.5178C>A (p.N1726K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581368C>A" "" "likely benign" "" "0000270989" "0" "10" "6" "7581636" "7581636" "subst" "0.172202" "02326" "DSP_000067" "g.7581636G>A" "" "" "" "DSP(NM_004415.2):c.5213G>A (p.R1738Q), DSP(NM_004415.4):c.5213G>A (p.R1738Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581403G>A" "" "benign" "" "0000270990" "0" "30" "6" "7581784" "7581784" "subst" "0" "02326" "DSP_000498" "g.7581784C>T" "" "" "" "DSP(NM_004415.2):c.5361C>T (p.F1787=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581551C>T" "" "likely benign" "" "0000270991" "0" "90" "6" "7583295" "7583295" "subst" "0" "02326" "DSP_000248" "g.7583295C>T" "" "" "" "DSP(NM_004415.2):c.5800C>T (p.R1934*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583062C>T" "" "pathogenic" "" "0000270992" "0" "50" "6" "7583554" "7583554" "subst" "8.12856E-6" "02326" "DSP_000507" "g.7583554G>C" "" "" "" "DSP(NM_004415.2):c.6059G>C (p.G2020A), DSP(NM_004415.4):c.6059G>C (p.G2020A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583321G>C" "" "VUS" "" "0000270993" "0" "30" "6" "7583703" "7583703" "subst" "0.004102" "02326" "DSP_000071" "g.7583703G>A" "" "" "" "DSP(NM_001008844.1):c.4411G>A (p.(Asp1471Asn)), DSP(NM_004415.2):c.6208G>A (p.D2070N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583470G>A" "" "likely benign" "" "0000270994" "0" "50" "6" "7583885" "7583885" "subst" "0" "02326" "DSP_000516" "g.7583885T>A" "" "" "" "DSP(NM_004415.2):c.6390T>A (p.A2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583652T>A" "" "VUS" "" "0000270995" "0" "10" "6" "7583885" "7583885" "subst" "0.00959819" "02326" "DSP_000072" "g.7583885T>C" "" "" "" "DSP(NM_004415.2):c.6390T>C (p.A2130=), DSP(NM_004415.4):c.6390T>C (p.A2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583652T>C" "" "benign" "" "0000270996" "0" "50" "6" "7562952" "7562952" "subst" "1.21852E-5" "02326" "DSP_000370" "g.7562952G>A" "" "" "" "DSP(NM_004415.2):c.665G>A (p.R222Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7562719G>A" "" "VUS" "" "0000270997" "0" "10" "6" "7584173" "7584173" "subst" "0.00125104" "02326" "DSP_000255" "g.7584173T>A" "" "" "" "DSP(NM_004415.2):c.6678T>A (p.G2226=), DSP(NM_004415.4):c.6678T>A (p.G2226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583940T>A" "" "benign" "" "0000270998" "0" "30" "6" "7584376" "7584376" "subst" "0.000795874" "02326" "DSP_000123" "g.7584376C>G" "" "" "" "DSP(NM_004415.2):c.6881C>G (p.A2294G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584143C>G" "" "likely benign" "" "0000270999" "0" "10" "6" "7584617" "7584617" "subst" "0.289351" "02326" "DSP_000076" "g.7584617C>T" "" "" "" "DSP(NM_004415.2):c.7122C>T (p.T2374=), DSP(NM_004415.4):c.7122C>T (p.T2374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584384C>T" "" "benign" "" "0000271000" "0" "30" "6" "7563957" "7563957" "subst" "0" "02326" "DSP_000372" "g.7563957G>A" "" "" "" "DSP(NM_004415.2):c.727-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7563724G>A" "" "likely benign" "" "0000271002" "0" "50" "6" "7585180" "7585182" "del" "0" "02326" "DSP_000534" "g.7585180_7585182del" "" "" "" "DSP(NM_004415.2):c.7685_7687delCCT (p.S2562del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584947_7584949del" "" "VUS" "" "0000271003" "0" "50" "6" "7585489" "7585489" "subst" "4.47686E-5" "02326" "DSP_000538" "g.7585489C>T" "" "" "" "DSP(NM_004415.2):c.7994C>T (p.(Thr2665Met), p.T2665M), DSP(NM_004415.4):c.7994C>T (p.T2665M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585256C>T" "" "VUS" "" "0000271004" "0" "70" "6" "7565622" "7565622" "subst" "0" "02326" "DSP_000134" "g.7565622C>T" "" "" "" "DSP(NM_004415.2):c.808C>T (p.R270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565389C>T" "" "likely pathogenic" "" "0000271005" "0" "50" "6" "7585585" "7585585" "subst" "0" "02326" "DSP_000540" "g.7585585G>A" "" "" "" "DSP(NM_004415.2):c.8090G>A (p.G2697D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585352G>A" "" "VUS" "" "0000271006" "0" "10" "6" "7585670" "7585670" "subst" "0.0462358" "02326" "DSP_000084" "g.7585670C>A" "" "" "" "DSP(NM_004415.2):c.8175C>A (p.R2725=), DSP(NM_004415.4):c.8175C>A (p.(Arg2725=), p.R2725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585437C>A" "" "benign" "" "0000271007" "0" "10" "6" "7585686" "7585686" "subst" "0.00258308" "02326" "DSP_000298" "g.7585686T>C" "" "" "" "DSP(NM_004415.2):c.8191T>C (p.Y2731H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585453T>C" "" "benign" "" "0000271008" "0" "10" "6" "7585795" "7585795" "subst" "0.00162877" "02326" "DSP_000085" "g.7585795C>A" "" "" "" "DSP(NM_004415.2):c.8300C>A (p.T2767N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585562C>A" "" "benign" "" "0000271009" "0" "10" "6" "7585967" "7585967" "subst" "0.713746" "02326" "DSP_000086" "g.7585967G>C" "" "" "" "DSP(NM_004415.2):c.8472G>C (p.G2824=), DSP(NM_004415.2):c.8472_8484delGTCCCGCTCCGGCinsCTCCCGCTCCGGC (p.G2824_G2828=), DSP(NM_004415.4):c.8472G>C ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585734G>C" "" "benign" "" "0000271010" "0" "30" "6" "7585982" "7585993" "del" "0" "02326" "DSP_000551" "g.7585982_7585993del" "" "" "" "DSP(NM_004415.2):c.8487_8498delCCGCTCGGGATC (p.S2843_R2846del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585749_7585760del" "" "likely benign" "" "0000271011" "0" "30" "6" "7586015" "7586015" "subst" "0" "02326" "DSP_000553" "g.7586015G>A" "" "" "" "DSP(NM_004415.2):c.8520G>A (p.G2840=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585782G>A" "" "likely benign" "" "0000271012" "0" "50" "6" "7586026" "7586026" "subst" "4.18803E-6" "02326" "DSP_000281" "g.7586026G>T" "" "" "" "DSP(NM_004415.2):c.8531G>T (p.G2844V), DSP(NM_004415.4):c.8531G>T (p.G2844V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585793G>T" "" "VUS" "" "0000275596" "0" "50" "6" "7542142" "7542142" "subst" "0" "01943" "DSP_000339" "g.7542142C>T" "" "" "" "DSP(NM_004415.2):c.-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7541909C>T" "" "VUS" "" "0000275597" "0" "10" "6" "7542253" "7542253" "subst" "0.0053285" "01943" "DSP_000091" "g.7542253G>A" "" "" "" "DSP(NM_004415.2):c.105G>A (p.G35=), DSP(NM_004415.4):c.105G>A (p.(Gly35=), p.G35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542020G>A" "" "benign" "" "0000275598" "0" "50" "6" "7567609" "7567609" "subst" "4.06603E-6" "01943" "DSP_000387" "g.7567609C>A" "" "" "" "DSP(NM_004415.2):c.1067C>A (p.T356K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567376C>A" "" "VUS" "" "0000275599" "0" "30" "6" "7568079" "7568079" "subst" "0.00140258" "01943" "DSP_000103" "g.7568079G>A" "" "" "" "DSP(NM_004415.2):c.1206G>A (p.K402=), DSP(NM_004415.4):c.1206G>A (p.K402=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567846G>A" "" "likely benign" "" "0000275600" "0" "30" "6" "7568145" "7568145" "subst" "0.000517704" "01943" "DSP_000155" "g.7568145G>T" "" "" "" "DSP(NM_004415.2):c.1266+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7567912G>T" "" "likely benign" "" "0000275601" "0" "10" "6" "7542274" "7542274" "subst" "0.0545796" "01943" "DSP_000003" "g.7542274T>C" "" "" "" "DSP(NM_004415.2):c.126T>C (p.Y42=), DSP(NM_004415.4):c.126T>C (p.Y42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542041T>C" "" "benign" "" "0000275602" "0" "30" "6" "7569481" "7569481" "subst" "4.4674E-5" "01943" "DSP_000396" "g.7569481C>T" "" "" "" "DSP(NM_004415.2):c.1482C>T (p.Y494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569248C>T" "" "likely benign" "" "0000275603" "0" "30" "6" "7569487" "7569487" "subst" "0.00105597" "01943" "DSP_000026" "g.7569487G>A" "" "" "" "DSP(NM_004415.2):c.1488G>A (p.T496=), DSP(NM_004415.4):c.1488G>A (p.T496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569254G>A" "" "likely benign" "" "0000275604" "0" "50" "6" "7569516" "7569516" "subst" "0" "01943" "DSP_000399" "g.7569516C>T" "" "" "" "DSP(NM_004415.2):c.1517C>T (p.P506L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569283C>T" "" "VUS" "" "0000275605" "0" "30" "6" "7569587" "7569587" "subst" "0.000422689" "01943" "DSP_000104" "g.7569587G>T" "" "" "" "DSP(NM_004415.2):c.1574+14G>T, DSP(NM_004415.4):c.1574+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7569354G>T" "" "likely benign" "" "0000275606" "0" "30" "6" "7571720" "7571720" "subst" "0.000126002" "01943" "DSP_000558" "g.7571720T>C" "" "" "" "DSP(NM_004415.2):c.1806T>C (p.D602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571487T>C" "" "likely benign" "" "0000275607" "0" "30" "6" "7555963" "7555963" "subst" "4.8746E-5" "01943" "DSP_000351" "g.7555963G>A" "" "" "" "DSP(NM_004415.2):c.183G>A (p.T61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555730G>A" "" "likely benign" "" "0000275608" "0" "10" "6" "7571824" "7571824" "subst" "0.00593436" "01943" "DSP_000034" "g.7571824T>C" "" "" "" "DSP(NM_001008844.1):c.1903+7T>C (p.(=)), DSP(NM_004415.2):c.1903+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571591T>C" "" "benign" "" "0000275609" "0" "10" "6" "7572058" "7572058" "subst" "7.032E-5" "01943" "DSP_000107" "g.7572058C>G" "" "" "" "DSP(NM_004415.2):c.1904-17C>G, DSP(NM_004415.4):c.1904-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571825C>G" "" "benign" "" "0000275610" "0" "30" "6" "7572091" "7572091" "subst" "0.000413169" "01943" "DSP_000565" "g.7572091C>T" "" "" "" "DSP(NM_004415.2):c.1920C>T (p.I640=), DSP(NM_004415.4):c.1920C>T (p.I640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7571858C>T" "" "likely benign" "" "0000275611" "0" "30" "6" "7572251" "7572251" "subst" "0" "01943" "DSP_000567" "g.7572251G>A" "" "" "" "DSP(NM_004415.2):c.2080G>A (p.A694T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7572018G>A" "" "likely benign" "" "0000275612" "0" "50" "6" "7574448" "7574448" "subst" "1.21897E-5" "01943" "DSP_000572" "g.7574448G>A" "" "" "" "DSP(NM_004415.2):c.2260G>A (p.E754K), DSP(NM_004415.4):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574215G>A" "" "VUS" "" "0000275613" "0" "30" "6" "7574938" "7574938" "subst" "0.00130829" "01943" "DSP_000194" "g.7574938C>T" "" "" "" "DSP(NM_004415.2):c.2346C>T (p.D782=), DSP(NM_004415.4):c.2346C>T (p.(Asp782=), p.D782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7574705C>T" "" "likely benign" "" "0000275614" "0" "50" "6" "7575688" "7575688" "subst" "1.21856E-5" "01943" "DSP_000414" "g.7575688G>A" "" "" "" "DSP(NM_004415.2):c.2597G>A (p.R866H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7575455G>A" "" "VUS" "" "0000275615" "0" "10" "6" "7576569" "7576569" "subst" "0.00162566" "01943" "DSP_000202" "g.7576569T>C" "" "" "" "DSP(NM_004415.2):c.2673T>C (p.Y891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576336T>C" "" "benign" "" "0000275616" "0" "10" "6" "7556063" "7556063" "subst" "0.0235482" "01943" "DSP_000006" "g.7556063C>T" "" "" "" "DSP(NM_004415.2):c.273+10C>T, DSP(NM_004415.4):c.273+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555830C>T" "" "benign" "" "0000275617" "0" "50" "6" "7556058" "7556058" "subst" "0.000277823" "01943" "DSP_000137" "g.7556058G>A" "" "" "" "DSP(NM_004415.2):c.273+5G>A (p.?), DSP(NM_004415.4):c.273+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7555825G>A" "" "VUS" "" "0000275618" "0" "10" "6" "7577213" "7577213" "subst" "0.00276531" "01943" "DSP_000114" "g.7577213G>A" "" "" "" "DSP(NM_004415.2):c.2815G>A (p.G939S), DSP(NM_004415.4):c.2815G>A (p.G939S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7576980G>A" "" "benign" "" "0000275619" "0" "10" "6" "7577260" "7577260" "subst" "0.239441" "01943" "DSP_000043" "g.7577260C>T" "" "" "" "DSP(NM_004415.2):c.2862C>T (p.C954=), DSP(NM_004415.4):c.2862C>T (p.C954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577027C>T" "" "benign" "" "0000275620" "0" "50" "6" "7578040" "7578040" "subst" "0" "01943" "DSP_000429" "g.7578040C>T" "" "" "" "DSP(NM_004415.2):c.2906C>T (p.T969I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577807C>T" "" "VUS" "" "0000275621" "0" "70" "6" "7578796" "7578796" "subst" "0" "01943" "DSP_000433" "g.7578796G>A" "" "" "" "DSP(NM_004415.2):c.3084+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7578563G>A" "" "likely pathogenic" "" "0000275622" "0" "50" "6" "7579544" "7579544" "subst" "4.06455E-6" "01943" "DSP_000436" "g.7579544C>T" "" "" "" "DSP(NM_004415.2):c.3121C>T (p.L1041F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579311C>T" "" "VUS" "" "0000275623" "0" "10" "6" "7579933" "7579933" "subst" "0.00230411" "01943" "DSP_000055" "g.7579933G>A" "" "" "" "DSP(NM_004415.2):c.3510G>A (p.E1170=), DSP(NM_004415.4):c.3510G>A (p.E1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579700G>A" "" "benign" "" "0000275624" "0" "50" "6" "7579985" "7579985" "subst" "8.56088E-5" "01943" "DSP_000443" "g.7579985T>C" "" "" "" "DSP(NM_004415.2):c.3562T>C (p.Y1188H), DSP(NM_004415.4):c.3562T>C (p.(Tyr1188His), p.Y1188H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7579752T>C" "" "VUS" "" "0000275625" "0" "10" "6" "7580346" "7580346" "subst" "0.00120575" "01943" "DSP_000058" "g.7580346G>A" "" "" "" "DSP(NM_004415.2):c.3923G>A (p.R1308Q, p.(Arg1308Gln)), DSP(NM_004415.4):c.3923G>A (p.R1308Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580113G>A" "" "benign" "" "0000275626" "0" "30" "6" "7580488" "7580488" "subst" "0.00083133" "01943" "DSP_000117" "g.7580488T>C" "" "" "" "DSP(NM_004415.2):c.4065T>C (p.Y1355=), DSP(NM_004415.4):c.4065T>C (p.Y1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580255T>C" "" "likely benign" "" "0000275627" "0" "50" "6" "7580492" "7580492" "subst" "0" "01943" "DSP_000460" "g.7580492G>A" "" "" "" "DSP(NM_004415.2):c.4069G>A (p.E1357K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580259G>A" "" "VUS" "" "0000275630" "0" "30" "6" "7580806" "7580806" "subst" "0.00194765" "01943" "DSP_000118" "g.7580806G>A" "" "" "" "DSP(NM_004415.2):c.4383G>A (p.E1461=), DSP(NM_004415.4):c.4383G>A (p.E1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580573G>A" "" "likely benign" "" "0000275631" "0" "10" "6" "7580878" "7580878" "subst" "0.00138513" "01943" "DSP_000477" "g.7580878G>T" "" "" "" "DSP(NM_004415.2):c.4455G>T (p.R1485S), DSP(NM_004415.4):c.4455G>T (p.R1485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580645G>T" "" "benign" "" "0000275632" "0" "10" "6" "7581001" "7581001" "subst" "0.0106141" "01943" "DSP_000062" "g.7581001C>A" "" "" "" "DSP(NM_004415.2):c.4578C>A (p.N1526K), DSP(NM_004415.4):c.4578C>A (p.(Asn1526Lys), p.N1526K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580768C>A" "" "benign" "" "0000275633" "0" "70" "6" "7581031" "7581035" "del" "0" "01943" "DSP_000486" "g.7581031_7581035del" "" "" "" "DSP(NM_004415.2):c.4608_4612delACGCC (p.R1537Efs*5), DSP(NM_004415.4):c.4608_4612delACGCC (p.R1537Efs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580798_7580802del" "" "likely pathogenic" "" "0000275634" "0" "10" "6" "7581032" "7581032" "subst" "0.00874909" "01943" "DSP_000063" "g.7581032C>T" "" "" "" "DSP(NM_004415.2):c.4609C>T (p.R1537C), DSP(NM_004415.4):c.4609C>T (p.R1537C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580799C>T" "" "benign" "" "0000275635" "0" "10" "6" "7581196" "7581196" "subst" "0.0139939" "01943" "DSP_000065" "g.7581196G>A" "" "" "" "DSP(NM_004415.2):c.4773G>A (p.R1591=), DSP(NM_004415.4):c.4773G>A (p.(Arg1591=), p.R1591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7580963G>A" "" "benign" "" "0000275636" "0" "30" "6" "7581556" "7581556" "subst" "0" "01943" "DSP_000495" "g.7581556G>A" "" "" "" "DSP(NM_004415.2):c.5133G>A (p.E1711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581323G>A" "" "likely benign" "" "0000275637" "0" "10" "6" "7581636" "7581636" "subst" "0.172202" "01943" "DSP_000067" "g.7581636G>A" "" "" "" "DSP(NM_004415.2):c.5213G>A (p.R1738Q), DSP(NM_004415.4):c.5213G>A (p.R1738Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7581403G>A" "" "benign" "" "0000275638" "0" "30" "6" "7542201" "7542201" "subst" "0" "01943" "DSP_000342" "g.7542201T>C" "" "" "" "DSP(NM_004415.2):c.53T>C (p.I18T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7541968T>C" "" "likely benign" "" "0000275639" "0" "30" "6" "7583028" "7583028" "subst" "0" "01943" "DSP_000501" "g.7583028G>T" "" "" "" "DSP(NM_004415.2):c.5533G>T (p.A1845S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7582795G>T" "" "likely benign" "" "0000275640" "0" "50" "6" "7583554" "7583554" "subst" "8.12856E-6" "01943" "DSP_000507" "g.7583554G>C" "" "" "" "DSP(NM_004415.2):c.6059G>C (p.G2020A), DSP(NM_004415.4):c.6059G>C (p.G2020A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583321G>C" "" "VUS" "" "0000275642" "0" "30" "6" "7583574" "7583574" "subst" "4.06524E-6" "01943" "DSP_000508" "g.7583574G>A" "" "" "" "DSP(NM_004415.2):c.6079G>A (p.E2027K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583341G>A" "" "likely benign" "" "0000275643" "0" "30" "6" "7583703" "7583703" "subst" "0.004102" "01943" "DSP_000071" "g.7583703G>A" "" "" "" "DSP(NM_001008844.1):c.4411G>A (p.(Asp1471Asn)), DSP(NM_004415.2):c.6208G>A (p.D2070N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583470G>A" "" "likely benign" "" "0000275644" "0" "30" "6" "7583846" "7583846" "subst" "6.90563E-5" "01943" "DSP_000514" "g.7583846T>C" "" "" "" "DSP(NM_004415.2):c.6351T>C (p.D2117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583613T>C" "" "likely benign" "" "0000275645" "0" "10" "6" "7583885" "7583885" "subst" "0.00959819" "01943" "DSP_000072" "g.7583885T>C" "" "" "" "DSP(NM_004415.2):c.6390T>C (p.A2130=), DSP(NM_004415.4):c.6390T>C (p.A2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583652T>C" "" "benign" "" "0000275646" "0" "30" "6" "7584173" "7584173" "subst" "0.00125104" "01943" "DSP_000255" "g.7584173T>A" "" "" "" "DSP(NM_004415.2):c.6678T>A (p.G2226=), DSP(NM_004415.4):c.6678T>A (p.G2226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583940T>A" "" "likely benign" "" "0000275647" "0" "10" "6" "7584617" "7584617" "subst" "0.289351" "01943" "DSP_000076" "g.7584617C>T" "" "" "" "DSP(NM_004415.2):c.7122C>T (p.T2374=), DSP(NM_004415.4):c.7122C>T (p.T2374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584384C>T" "" "benign" "" "0000275648" "0" "30" "6" "7584620" "7584620" "subst" "6.90417E-5" "01943" "DSP_000528" "g.7584620G>A" "" "" "" "DSP(NM_004415.2):c.7125G>A (p.G2375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584387G>A" "" "likely benign" "" "0000275649" "0" "30" "6" "7584651" "7584651" "subst" "0" "01943" "DSP_000529" "g.7584651T>C" "" "" "" "DSP(NM_004415.2):c.7156T>C (p.L2386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584418T>C" "" "likely benign" "" "0000275650" "0" "10" "6" "7563983" "7563983" "subst" "0.999208" "01943" "DSP_000013" "g.7563983T>G" "" "" "" "DSP(NM_004415.2):c.741T>G (p.A247=), DSP(NM_004415.4):c.741T>G (p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7563750T>G" "" "benign" "" "0000275651" "0" "30" "6" "7585229" "7585229" "subst" "0.000198967" "01943" "DSP_000081" "g.7585229C>T" "" "" "" "DSP(NM_004415.2):c.7734C>T (p.S2578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7584996C>T" "" "likely benign" "" "0000275652" "0" "10" "6" "7585670" "7585670" "subst" "0.0462358" "01943" "DSP_000084" "g.7585670C>A" "" "" "" "DSP(NM_004415.2):c.8175C>A (p.R2725=), DSP(NM_004415.4):c.8175C>A (p.(Arg2725=), p.R2725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585437C>A" "" "benign" "" "0000275653" "0" "10" "6" "7585686" "7585686" "subst" "0.00258308" "01943" "DSP_000298" "g.7585686T>C" "" "" "" "DSP(NM_004415.2):c.8191T>C (p.Y2731H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585453T>C" "" "benign" "" "0000275654" "0" "10" "6" "7585795" "7585795" "subst" "0.00162877" "01943" "DSP_000085" "g.7585795C>A" "" "" "" "DSP(NM_004415.2):c.8300C>A (p.T2767N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585562C>A" "" "benign" "" "0000275655" "0" "30" "6" "7585910" "7585910" "subst" "4.47293E-5" "01943" "DSP_000127" "g.7585910C>T" "" "" "" "DSP(NM_004415.2):c.8415C>T (p.A2805=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585677C>T" "" "likely benign" "" "0000275656" "0" "10" "6" "7585967" "7585967" "subst" "0.713746" "01943" "DSP_000086" "g.7585967G>C" "" "" "" "DSP(NM_004415.2):c.8472G>C (p.G2824=), DSP(NM_004415.2):c.8472_8484delGTCCCGCTCCGGCinsCTCCCGCTCCGGC (p.G2824_G2828=), DSP(NM_004415.4):c.8472G>C ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7585734G>C" "" "benign" "" "0000275657" "0" "50" "6" "7565681" "7565681" "subst" "1.2187E-5" "01943" "DSP_000377" "g.7565681C>T" "" "" "" "DSP(NM_004415.2):c.867C>T (p.C289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7565448C>T" "" "VUS" "" "0000275658" "0" "30" "6" "7542238" "7542238" "subst" "0" "01943" "DSP_000345" "g.7542238G>A" "" "" "" "DSP(NM_004415.2):c.90G>A (p.V30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542005G>A" "" "likely benign" "" "0000330809" "0" "30" "6" "7542236" "7542236" "subst" "0.00160304" "01804" "DSP_000002" "g.7542236G>A" "" "" "" "DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7542003G>A" "" "likely benign" "" "0000330810" "0" "50" "6" "7578715" "7578715" "subst" "4.06392E-5" "01804" "DSP_000430" "g.7578715C>T" "" "" "" "DSP(NM_001008844.1):c.3004C>T (p.(Arg1002Trp)), DSP(NM_004415.2):c.3004C>T (p.R1002W), DSP(NM_004415.4):c.3004C>T (p.R1002W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7578482C>T" "" "VUS" "" "0000330811" "0" "30" "6" "7583703" "7583703" "subst" "0.004102" "01804" "DSP_000071" "g.7583703G>A" "" "" "" "DSP(NM_001008844.1):c.4411G>A (p.(Asp1471Asn)), DSP(NM_004415.2):c.6208G>A (p.D2070N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7583470G>A" "" "likely benign" "" "0000368305" "0" "50" "6" "7582944" "7582944" "subst" "4.07E-6" "02438" "DSP_000243" "g.7582944G>A" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "?" "" "0" "" "" "g.7582711G>A" "" "VUS" "" "0000441340" "0" "11" "6" "7542274" "7542274" "subst" "0.0545796" "00802" "DSP_000003" "g.7542274T>C" "" "" "" "" "" "Germline" "" "rs36087964" "0" "" "" "g.7542041T>C" "" "benign" "" "0000441341" "0" "11" "6" "7555854" "7555854" "subst" "0" "00802" "DSP_000004" "g.7555854G>C" "" "" "" "" "" "Germline" "" "rs9392904" "0" "" "" "g.7555621G>C" "" "benign" "" "0000441342" "0" "11" "6" "7556063" "7556063" "subst" "0.0235482" "00802" "DSP_000006" "g.7556063C>T" "" "" "" "" "" "Germline" "" "rs56148603" "0" "" "" "g.7555830C>T" "" "benign" "" "0000441343" "0" "11" "6" "7558318" "7558318" "subst" "0.196709" "00802" "DSP_000007" "g.7558318T>C" "" "" "" "" "" "Germline" "" "rs10484326" "0" "" "" "g.7558085T>C" "" "benign" "" "0000441344" "0" "15" "6" "7558419" "7558419" "subst" "6.09187E-5" "00802" "DSP_000008" "g.7558419A>G" "" "" "" "" "" "Germline" "" "rs28763958" "0" "" "" "g.7558186A>G" "" "benign" "" "0000441345" "0" "11" "6" "7563901" "7563901" "subst" "0" "00802" "DSP_000012" "g.7563901G>A" "" "" "" "" "" "Germline" "" "rs12205970" "0" "" "" "g.7563668G>A" "" "benign" "" "0000441346" "0" "11" "6" "7563983" "7563983" "subst" "0.999208" "00802" "DSP_000013" "g.7563983T>G" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs2806234" "0" "" "" "" "" "benign" "" "0000441347" "0" "11" "6" "7564113" "7564113" "subst" "0" "00802" "DSP_000014" "g.7564113C>G" "" "" "" "" "" "Germline" "" "rs17142984" "0" "" "" "g.7563880C>G" "" "benign" "" "0000441348" "0" "15" "6" "7565667" "7565667" "subst" "0" "00802" "DSP_000015" "g.7565667T>G" "" "" "" "" "" "Germline" "" "rs28521706" "0" "" "" "g.7565434T>G" "" "benign" "" "0000441349" "0" "11" "6" "7567655" "7567655" "subst" "0" "00802" "DSP_000019" "g.7567655T>C" "" "" "" "" "" "Germline" "" "rs35200676" "0" "" "" "g.7567422T>C" "" "benign" "" "0000441350" "0" "11" "6" "7567970" "7567970" "subst" "0.75879" "00802" "DSP_000020" "g.7567970C>T" "" "" "" "" "" "Germline" "" "rs2076926" "0" "" "" "g.7567737C>T" "" "benign" "" "0000441351" "0" "11" "6" "7569326" "7569326" "subst" "0" "00802" "DSP_000023" "g.7569326C>T" "" "" "" "" "" "Germline" "" "rs11755954" "0" "" "" "g.7569093C>T" "" "benign" "" "0000441352" "0" "15" "6" "7569422" "7569422" "del" "0" "00802" "DSP_000024" "g.7569422del" "" "" "" "1420delA" "" "Germline" "" "rs34543842" "0" "" "" "g.7569189del" "" "benign" "" "0000441353" "0" "11" "6" "7569487" "7569487" "subst" "0.00105597" "00802" "DSP_000026" "g.7569487G>A" "" "" "" "" "" "Germline" "" "rs35820743" "0" "" "" "g.7569254G>A" "" "benign" "" "0000441354" "0" "11" "6" "7570575" "7570575" "subst" "0" "00802" "DSP_000028" "g.7570575G>A" "" "" "" "" "" "Germline" "" "rs34072400" "0" "" "" "g.7570342G>A" "" "benign" "" "0000441355" "0" "11" "6" "7571588" "7571589" "ins" "0" "00802" "DSP_000030" "g.7571588_7571589insCA" "" "" "" "" "" "Germline" "" "rs35600105" "0" "" "" "g.7571355_7571356insCA" "" "benign" "" "0000441356" "0" "11" "6" "7571692" "7571692" "subst" "0.000536498" "00802" "DSP_000032" "g.7571692A>G" "" "" "" "" "" "Germline" "" "rs34239595" "0" "" "" "g.7571459A>G" "" "benign" "" "0000441357" "0" "11" "6" "7571824" "7571824" "subst" "0.00593436" "00802" "DSP_000034" "g.7571824T>C" "" "" "" "" "" "Germline" "" "rs28763962" "0" "" "" "g.7571591T>C" "" "benign" "" "0000441358" "0" "11" "6" "7571874" "7571874" "subst" "0" "00802" "DSP_000035" "g.7571874G>A" "" "" "" "" "" "Germline" "" "rs926411" "0" "" "" "g.7571641G>A" "" "benign" "" "0000441359" "0" "11" "6" "7572026" "7572026" "subst" "0.461112" "00802" "DSP_000036" "g.7572026T>A" "" "" "" "" "" "Germline" "" "rs2076303" "0" "" "" "g.7571793T>A" "" "benign" "" "0000441360" "0" "11" "6" "7572262" "7572262" "subst" "0.761591" "00802" "DSP_000037" "g.7572262A>G" "" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs2076304" "0" "" "" "" "" "benign" "" "0000441361" "0" "11" "6" "7574435" "7574435" "subst" "0.00013408" "00802" "DSP_000038" "g.7574435A>G" "" "" "" "" "" "Germline" "" "rs28763963" "0" "" "" "g.7574202A>G" "" "benign" "" "0000441362" "0" "11" "6" "7574536" "7574536" "subst" "0" "00802" "DSP_000039" "g.7574536T>C" "" "" "" "" "" "Germline" "" "rs7741957" "0" "" "" "g.7574303T>C" "" "benign" "" "0000441363" "0" "11" "6" "7574805" "7574805" "subst" "0" "00802" "DSP_000040" "g.7574805C>T" "" "" "" "" "" "Germline" "" "rs2259208" "0" "" "" "g.7574572C>T" "" "benign" "" "0000441364" "0" "11" "6" "7574852" "7574852" "subst" "0.0512191" "00802" "DSP_000041" "g.7574852T>C" "" "" "" "" "" "Germline" "" "rs2295859" "0" "" "" "g.7574619T>C" "" "benign" "" "0000441365" "0" "11" "6" "7577354" "7577354" "subst" "0" "00802" "DSP_000044" "g.7577354C>A" "" "" "" "" "" "Germline" "" "rs2064218" "0" "" "" "g.7577121C>A" "" "benign" "" "0000441366" "0" "11" "6" "7578189" "7578189" "subst" "0" "00802" "DSP_000045" "g.7578189G>A" "" "" "" "" "" "Germline" "" "rs6942260" "0" "" "" "g.7577956G>A" "" "benign" "" "0000441367" "0" "11" "6" "7578819" "7578819" "subst" "0.775394" "00802" "DSP_000046" "g.7578819T>G" "" "" "" "" "" "Germline" "" "rs2806229" "0" "" "" "g.7578586T>G" "" "benign" "" "0000441368" "0" "11" "6" "7578823" "7578823" "subst" "0.780674" "00802" "DSP_000047" "g.7578823G>A" "" "" "" "" "" "Germline" "" "rs28242691" "0" "" "" "g.7578590G>A" "" "benign" "" "0000441369" "0" "11" "6" "7579412" "7579412" "subst" "0" "00802" "DSP_000048" "g.7579412A>G" "" "" "" "" "" "Germline" "" "rs2806225" "0" "" "" "g.7579179A>G" "" "benign" "" "0000441370" "0" "11" "6" "7579436" "7579436" "subst" "0" "00802" "DSP_000049" "g.7579436G>A" "" "" "" "" "" "Germline" "" "rs6905839" "0" "" "" "g.7579203G>A" "" "benign" "" "0000441371" "0" "15" "6" "7579705" "7579705" "subst" "0" "00802" "DSP_000051" "g.7579705G>T" "" "" "" "" "" "Germline" "" "rs2491080" "0" "" "" "g.7579472G>T" "" "benign" "" "0000441372" "0" "15" "6" "7579727" "7579727" "subst" "0" "00802" "DSP_000052" "g.7579727G>C" "" "" "" "" "" "Germline" "" "rs2491079" "0" "" "" "g.7579494G>C" "" "benign" "" "0000441373" "0" "11" "6" "7579819" "7579819" "subst" "2.04337E-5" "00802" "DSP_000054" "g.7579819T>C" "" "" "" "" "" "Germline" "" "rs41302881" "0" "" "" "g.7579586T>C" "" "benign" "" "0000441374" "0" "11" "6" "7579933" "7579933" "subst" "0.00230411" "00802" "DSP_000055" "g.7579933G>A" "" "" "" "" "" "Germline" "" "rs28763964" "0" "" "" "g.7579700G>A" "" "benign" "" "0000441375" "0" "15" "6" "7580396" "7580396" "subst" "8.1408E-6" "00802" "DSP_000059" "g.7580396A>C" "" "" "" "" "" "Germline" "" "rs41302883" "0" "" "" "g.7580163A>C" "" "benign" "" "0000441376" "0" "15" "6" "7580795" "7580795" "subst" "0.00174373" "00802" "DSP_000060" "g.7580795C>G" "" "" "" "" "" "Germline" "" "rs28763965" "0" "" "" "g.7580562C>G" "" "benign" "" "0000441377" "0" "11" "6" "7581196" "7581196" "subst" "0.0139939" "00802" "DSP_000065" "g.7581196G>A" "" "" "" "" "" "Germline" "" "rs28763968" "0" "" "" "g.7580963G>A" "" "benign" "" "0000441378" "0" "11" "6" "7583406" "7583406" "subst" "0" "00802" "DSP_000070" "g.7583406C>T" "" "" "" "" "" "Germline" "" "rs35539219" "0" "" "" "g.7583173C>T" "" "benign" "" "0000441379" "0" "15" "6" "7583703" "7583703" "subst" "0.004102" "00802" "DSP_000071" "g.7583703G>A" "" "" "" "" "" "Germline" "" "rs41302885" "0" "" "" "g.7583470G>A" "" "benign" "" "0000441380" "0" "11" "6" "7583885" "7583885" "subst" "0.00959819" "00802" "DSP_000072" "g.7583885T>C" "" "" "" "" "" "Germline" "" "rs28763969" "0" "" "" "g.7583652T>C" "" "benign" "" "0000441381" "0" "15" "6" "7583991" "7583991" "dup" "0" "00802" "DSP_000073" "g.7583991dup" "" "" "" "" "" "Germline" "" "rs34476546" "0" "" "" "g.7583758dup" "" "benign" "" "0000441382" "0" "15" "6" "7584488" "7584489" "ins" "0" "00802" "DSP_000074" "g.7584488_7584489insC" "" "" "" "" "" "Germline" "" "rs34238014" "0" "" "" "g.7584255_7584256insC" "" "benign" "" "0000441383" "0" "15" "6" "7584574" "7584575" "ins" "0" "00802" "DSP_000075" "g.7584574_7584575insC" "" "" "" "" "" "Germline" "" "rs34334797" "0" "" "" "g.7584341_7584342insC" "" "benign" "" "0000441384" "0" "11" "6" "7585229" "7585229" "subst" "0.000198967" "00802" "DSP_000081" "g.7585229C>T" "" "" "" "" "" "Germline" "" "rs28763970" "0" "" "" "g.7584996C>T" "" "benign" "" "0000441385" "0" "11" "6" "7585490" "7585490" "subst" "0.000663448" "00802" "DSP_000083" "g.7585490G>A" "" "" "" "" "" "Germline" "" "rs35379048" "0" "" "" "g.7585257G>A" "" "benign" "" "0000441386" "0" "11" "6" "7585670" "7585670" "subst" "0.0462358" "00802" "DSP_000084" "g.7585670C>A" "" "" "" "" "" "Germline" "" "rs11558731" "0" "" "" "g.7585437C>A" "" "benign" "" "0000441387" "0" "11" "6" "7585795" "7585795" "subst" "0.00162877" "00802" "DSP_000085" "g.7585795C>A" "" "" "" "" "" "Germline" "" "rs34884895" "0" "" "" "g.7585562C>A" "" "benign" "" "0000441388" "0" "15" "6" "7586100" "7586100" "subst" "0.00210772" "00802" "DSP_000088" "g.7586100A>G" "" "" "" "" "" "Germline" "" "rs28763971" "0" "" "" "g.7585867A>G" "" "benign" "" "0000441389" "0" "15" "6" "7586120" "7586120" "subst" "0.00593214" "00802" "DSP_000090" "g.7586120T>A" "" "" "" "" "" "Germline" "" "rs11558732" "0" "" "" "g.7585887T>A" "" "benign" "" "0000441390" "0" "11" "6" "7542226" "7542226" "subst" "5.74641E-5" "00802" "DSP_000153" "g.7542226G>T" "" "" "" "" "" "Germline" "" "rs71559180" "0" "" "" "g.7541993G>T" "" "benign" "" "0000441391" "0" "11" "6" "7565500" "7565500" "dup" "0" "00802" "DSP_000154" "g.7565500dup" "" "" "" "" "" "Germline" "" "rs70978991" "0" "" "" "g.7565267dup" "" "benign" "" "0000441392" "0" "11" "6" "7568145" "7568145" "subst" "0.000517704" "00802" "DSP_000155" "g.7568145G>T" "" "" "" "" "" "Germline" "" "rs73375345" "0" "" "" "g.7567912G>T" "" "benign" "" "0000441755" "0" "11" "6" "7542149" "7542149" "dup" "0" "00802" "DSP_000001" "g.7542149dup" "" "{PMID:Yu:18632414}, ARVD/C database 7374" "" "-1_1insA" "" "Germline" "" "rs17133512" "0" "" "" "g.7541916dup" "" "benign" "" "0000441756" "0" "95" "6" "7542236" "7542236" "subst" "0.00160304" "00802" "DSP_000002" "g.7542236G>A" "" "{PMID:Yang:16917092}, ARVD/C database 7375" "" "" "" "Germline" "" "" "0" "" "" "g.7542003G>A" "" "pathogenic" "" "0000441757" "0" "95" "6" "7542236" "7542236" "subst" "0.00160304" "00802" "DSP_000002" "g.7542236G>A" "" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7375" "" "" "" "Germline" "" "" "0" "" "" "g.7542003G>A" "" "pathogenic" "" "0000441758" "0" "55" "6" "7585117" "7585117" "subst" "1.62423E-5" "00802" "DSP_000079" "g.7585117G>A" "" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7426" "" "" "" "Germline" "" "" "0" "" "" "g.7584884G>A" "" "VUS" "" "0000441759" "0" "95" "6" "7556049" "7556049" "subst" "0.000700771" "00802" "DSP_000005" "g.7556049A>G" "" "{PMID:Yang et al:16917092}, ARVD/C database 7377" "" "" "" "Germline" "" "" "0" "" "" "g.7555816A>G" "" "pathogenic" "" "0000441760" "0" "99" "6" "7559458" "7559458" "subst" "0" "00802" "DSP_000009" "g.7559458G>A" "" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, ARVD/C database 7379" "" "" "The aberrant spliced mRNA contains a premature stop codon." "Germline" "" "" "0" "" "" "g.7559225G>A" "" "pathogenic" "" "0000441761" "0" "99" "6" "7559583" "7559583" "subst" "0" "00802" "DSP_000010" "g.7559583G>A" "" "{PMID:Basso:16774985}, ARVD/C database 7380" "" "" "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" "" "0000441762" "0" "99" "6" "7562986" "7562986" "subst" "0" "00802" "DSP_000011" "g.7562986G>A" "" "{PMID:Yang:16917092}, ARVD/C database 7381" "" "" "" "Germline" "" "" "0" "" "" "g.7562753G>A" "" "pathogenic" "" "0000441763" "0" "97" "6" "7565711" "7565711" "subst" "0" "00802" "DSP_000016" "g.7565711C>G" "" "{PMID:Rampazzo 2002:12373648}, {PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7384" "" "" "" "Germline" "" "" "0" "" "" "g.7565478C>G" "" "pathogenic" "" "0000441764" "0" "11" "6" "7565727" "7565727" "subst" "0.0297216" "00802" "DSP_000017" "g.7565727A>T" "" "{PMID:den Haan:20031617}, ARVD/C database 7385" "" "" "" "Germline" "" "rs17604693" "0" "" "" "g.7565494A>T" "" "benign" "" "0000441765" "0" "99" "6" "7565754" "7565754" "subst" "0" "00802" "DSP_000018" "g.7565754G>A" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7634" "" "" "" "Germline" "" "" "0" "" "" "g.7565521G>A" "" "pathogenic" "" "0000441766" "0" "75" "6" "7568811" "7568811" "subst" "0" "00802" "DSP_000021" "g.7568811A>G" "" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7837" "" "" "" "Germline" "" "" "0" "" "" "g.7568578A>G" "" "likely pathogenic" "" "0000441767" "0" "55" "6" "7570791" "7570791" "subst" "0.000195282" "00802" "DSP_000029" "g.7570791G>A" "" "{PMID:Basso:16774985}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7391" "" "" "" "Germline" "" "" "0" "" "" "g.7570558G>A" "" "VUS" "" "0000441768" "0" "95" "6" "7568728" "7568728" "subst" "0" "00802" "DSP_000022" "g.7568728C>T" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7630" "" "" "" "Germline" "" "" "0" "" "" "g.7568495C>T" "" "pathogenic" "" "0000441769" "0" "55" "6" "7569480" "7569480" "subst" "0.0133859" "00802" "DSP_000025" "g.7569480A>T" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7389" "" "" "" "Germline" "" "rs28763961" "0" "" "" "g.7569247A>T" "" "VUS" "" "0000441770" "0" "95" "6" "7569519" "7569519" "subst" "0" "00802" "DSP_000027" "g.7569519C>T" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7631" "" "" "" "Germline" "" "" "0" "" "" "g.7569286C>T" "" "pathogenic" "" "0000441771" "0" "99" "6" "7571669" "7571669" "dup" "0" "00802" "DSP_000031" "g.7571669dup" "" "{PMID:Basso:16774985}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7392" "" "2034insA" "" "Germline" "" "" "0" "" "" "g.7571436dup" "" "pathogenic" "" "0000441772" "0" "99" "6" "7571669" "7571669" "dup" "0" "00802" "DSP_000031" "g.7571669dup" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7392" "" "2034insA" "" "Germline" "" "" "0" "" "" "g.7571436dup" "" "pathogenic" "" "0000441773" "10" "99" "6" "7571731" "7571760" "dup" "0" "00802" "DSP_000033" "g.7571731_7571760dup" "" "{PMID:Norgett:16628197}, ARVD/C database 7394" "" "1823_1824insACAGTCTCAGTTCACCGATGCCCGGAAAAT" "" "Germline" "" "" "0" "" "" "g.7571498_7571527dup" "" "pathogenic (dominant)" "" "0000441774" "0" "11" "6" "7576527" "7576527" "subst" "0.774109" "00802" "DSP_000042" "g.7576527G>A" "" "{PMID:Yu:18632414}, ARVD/C database 7397" "" "" "" "Germline" "" "rs1016835" "0" "" "" "g.7576294G>A" "" "benign" "" "0000441775" "0" "11" "6" "7577260" "7577260" "subst" "0.239441" "00802" "DSP_000043" "g.7577260C>T" "" "{PMID:Yu:18632414}, ARVD/C database 7398" "" "" "" "Germline" "" "rs2064217" "0" "" "" "g.7577027C>T" "" "benign" "" "0000441776" "0" "99" "6" "7578756" "7578756" "del" "0" "00802" "DSP_000050" "g.7578756del" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7635" "" "3045delG" "" "Germline" "" "" "0" "" "" "g.7578523del" "" "pathogenic" "" "0000441777" "0" "99" "6" "7579760" "7579760" "subst" "0" "00802" "DSP_000053" "g.7579760C>T" "" "{PMID:Sen-Chowdhry:19095136}, ARVD/C database 7629" "" "" "" "Germline" "" "" "0" "" "" "g.7579527C>T" "" "pathogenic" "" "0000441778" "0" "55" "6" "7580187" "7580187" "subst" "2.4431E-5" "00802" "DSP_000056" "g.7580187G>A" "" "{PMID:Bauce:15941723}, Rampazzo 2008 (escardio.org ID24 4371), Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7403" "" "" "" "Germline" "" "" "0" "" "" "g.7579954G>A" "" "VUS" "" "0000441779" "0" "99" "6" "7580222" "7580222" "subst" "0" "00802" "DSP_000057" "g.7580222C>T" "" "{PMID:Uzumcu:16467215}, ARVD/C database 7404" "" "" "" "Germline" "" "" "0" "" "" "g.7579989C>T" "" "pathogenic" "" "0000441780" "0" "11" "6" "7580346" "7580346" "subst" "0.00120575" "00802" "DSP_000058" "g.7580346G>A" "" "{PMID:Yu:18632414}, ARVD/C database 7405" "" "" "" "Germline" "" "" "0" "" "" "g.7580113G>A" "" "benign" "" "0000441781" "0" "11" "6" "7580958" "7580958" "subst" "0.117415" "00802" "DSP_000061" "g.7580958A>G" "" "{PMID:Yu:18632414}, ARVD/C database 7408" "" "" "" "Germline" "" "rs2076299" "0" "" "" "g.7580725A>G" "" "benign" "" "0000441782" "0" "11" "6" "7581001" "7581001" "subst" "0.0106141" "00802" "DSP_000062" "g.7581001C>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7409" "" "" "" "Germline" "" "rs28763966" "0" "" "" "g.7580768C>A" "" "benign" "" "0000441783" "0" "11" "6" "7581032" "7581032" "subst" "0.00874909" "00802" "DSP_000063" "g.7581032C>T" "" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, ARVD/C database 7410" "" "" "" "Germline" "" "rs28763967" "0" "" "" "g.7580799C>T" "" "benign" "" "0000441784" "0" "95" "6" "7581171" "7581171" "subst" "0" "00802" "DSP_000064" "g.7581171A>G" "" "{PMID:Basso:16774985}, ARVD/C database 7411" "" "" "p.1583 is a Thr in isoform 1 and a Ser in isoform 2\r\nVariant Error [EREF/ESYNTAX]: 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" "" "0000441785" "0" "75" "6" "7581384" "7581384" "subst" "2.8491E-5" "00802" "DSP_000066" "g.7581384T>C" "" "{PMID:Bauce:20129281}, Rampazzo 2008 (escardio.org ID24 4371), {PMID:Xu 2010:20152563}, ARVD/C database 7413" "" "" "" "Germline" "" "" "0" "" "" "g.7581151T>C" "" "likely pathogenic" "" "0000441786" "0" "11" "6" "7581636" "7581636" "subst" "0.172202" "00802" "DSP_000067" "g.7581636G>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7414" "" "" "" "Germline" "" "rs6929069" "0" "" "" "g.7581403G>A" "" "benign" "" "0000441787" "0" "95" "6" "7581747" "7581747" "subst" "6.50994E-5" "00802" "DSP_000068" "g.7581747G>T" "" "{PMID:Awad:16773573}, {PMID:den Haan:20031617}, ARVD/C database 7415" "" "" "" "Germline" "" "rs34738426" "0" "" "" "g.7581514G>T" "" "pathogenic" "" "0000441788" "0" "55" "6" "7582993" "7582993" "subst" "0.00945845" "00802" "DSP_000069" "g.7582993A>T" "" "unpublished, ARVD/C database 7628" "" "" "" "Germline" "" "" "0" "" "" "g.7582760A>T" "" "VUS" "" "0000441789" "0" "11" "6" "7584617" "7584617" "subst" "0.289351" "00802" "DSP_000076" "g.7584617C>T" "" "{PMID:Yu:18632414}, ARVD/C database 7423" "" "" "" "Germline" "" "rs2076300" "0" "" "" "g.7584384C>T" "" "benign" "" "0000441790" "0" "95" "6" "7584618" "7584618" "subst" "0" "00802" "DSP_000077" "g.7584618G>C" "" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7424" "" "7402G>C" "" "Germline" "" "" "0" "" "" "g.7584385G>C" "" "pathogenic" "" "0000441791" "0" "11" "6" "7584773" "7584773" "subst" "0.000365854" "00802" "DSP_000078" "g.7584773T>C" "" "{PMID:Yu:18632414}, ARVD/C database 7425" "" "" "" "Germline" "" "" "0" "" "" "g.7584540T>C" "" "benign" "" "0000441792" "0" "99" "6" "7585118" "7585118" "del" "0" "00802" "DSP_000080" "g.7585118del" "" "{PMID:den Haan:20031617}, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7427" "" "7901delG" "" "Germline" "" "" "0" "" "" "g.7584885del" "" "pathogenic" "" "0000441793" "0" "95" "6" "7585411" "7585411" "subst" "0.000862848" "00802" "DSP_000082" "g.7585411G>A" "" "{PMID:Yu:18632414}, ARVD/C database 7421" "" "7516G>A" "" "Germline" "" "" "0" "" "" "g.7585178G>A" "" "pathogenic" "" "0000441794" "0" "11" "6" "7585967" "7585967" "subst" "0.713746" "00802" "DSP_000086" "g.7585967G>C" "" "{PMID:Yu:18632414}, ARVD/C database 7432" "" "" "" "Germline" "" "rs2744380" "0" "" "" "g.7585734G>C" "" "benign" "" "0000441795" "0" "95" "6" "7585996" "7585996" "subst" "0" "00802" "DSP_000087" "g.7585996G>A" "" "{PMID:Yang:16917092}, ARVD/C database 7433" "" "" "" "Germline" "" "" "0" "" "" "g.7585763G>A" "" "pathogenic" "" "0000441796" "0" "11" "6" "7586150" "7586150" "subst" "0.00356642" "00802" "DSP_000089" "g.7586150T>C" "" "{PMID:Yu:18632414}, ARVD/C database 7435" "" "8655T>C" "" "Germline" "" "" "0" "" "" "g.7585917T>C" "" "benign" "" "0000441797" "0" "15" "6" "7542253" "7542253" "subst" "0.0053285" "00802" "DSP_000091" "g.7542253G>A" "" "unpublished, ARVD/C database 7810" "" "" "" "Germline" "" "" "0" "" "" "g.7542020G>A" "" "benign" "" "0000441798" "0" "55" "6" "7542285" "7542285" "subst" "0" "00802" "DSP_000092" "g.7542285G>A" "" "unpublished, ARVD/C database 7811" "" "" "" "Germline" "" "" "0" "" "" "g.7542052G>A" "" "VUS" "" "0000441799" "0" "11" "6" "7555886" "7555886" "subst" "0" "00802" "DSP_000093" "g.7555886T>C" "" "unpublished, ARVD/C database 7812" "" "" "" "Germline" "" "" "0" "" "" "g.7555653T>C" "" "benign" "" "0000441800" "0" "75" "6" "7556022" "7556022" "subst" "0.000142246" "00802" "DSP_000094" "g.7556022G>A" "" "unpublished, ARVD/C database 7813" "" "" "" "Germline" "" "" "0" "" "" "g.7555789G>A" "" "likely pathogenic" "" "0000441801" "0" "11" "6" "7563934" "7563934" "subst" "3.25087E-5" "00802" "DSP_000095" "g.7563934G>A" "" "unpublished, ARVD/C database 7814" "" "" "" "Germline" "" "" "0" "" "" "g.7563701G>A" "" "benign" "" "0000441802" "0" "11" "6" "7564041" "7564041" "subst" "0.00104838" "00802" "DSP_000096" "g.7564041G>A" "" "unpublished, ARVD/C database 7815" "" "" "" "Germline" "" "" "0" "" "" "g.7563808G>A" "" "benign" "" "0000441803" "0" "11" "6" "7564048" "7564048" "subst" "0.000491802" "00802" "DSP_000097" "g.7564048G>A" "" "unpublished, ARVD/C database 7816" "" "" "" "Germline" "" "" "0" "" "" "g.7563815G>A" "" "benign" "" "0000441804" "0" "99" "6" "7565632" "7565632" "dup" "0" "00802" "DSP_000098" "g.7565632dup" "" "unpublished, ARVD/C database 7817" "" "" "" "Germline" "" "" "0" "" "" "g.7565399dup" "" "pathogenic" "" "0000441805" "0" "11" "6" "7566763" "7566763" "subst" "8.96937E-5" "00802" "DSP_000099" "g.7566763A>G" "" "unpublished, ARVD/C database 7818" "" "" "" "Germline" "" "" "0" "" "" "g.7566530A>G" "" "benign" "" "0000441806" "0" "11" "6" "7567610" "7567610" "subst" "2.03305E-5" "00802" "DSP_000100" "g.7567610G>A" "" "unpublished, ARVD/C database 7819" "" "" "RNA analysis showed no splice effect" "Germline" "" "" "0" "" "" "g.7567377G>A" "" "benign" "" "0000441807" "0" "11" "6" "7567602" "7567603" "del" "0" "00802" "DSP_000101" "g.7567602_7567603del" "" "unpublished, ARVD/C database 7820" "" "1060_1061delCT" "" "Germline" "" "" "0" "" "" "g.7567369_7567370del" "" "benign" "" "0000441808" "0" "15" "6" "7568052" "7568052" "subst" "0" "00802" "DSP_000102" "g.7568052G>A" "" "unpublished, ARVD/C database 7821" "" "" "" "Germline" "" "" "0" "" "" "g.7567819G>A" "" "benign" "" "0000441809" "0" "15" "6" "7568079" "7568079" "subst" "0.00140258" "00802" "DSP_000103" "g.7568079G>A" "" "unpublished, ARVD/C database 7822" "" "" "" "Germline" "" "" "0" "" "" "g.7567846G>A" "" "benign" "" "0000441810" "0" "11" "6" "7569587" "7569587" "subst" "0.000422689" "00802" "DSP_000104" "g.7569587G>T" "" "unpublished, ARVD/C database 7823" "" "" "" "Germline" "" "" "0" "" "" "g.7569354G>T" "" "benign" "" "0000441811" "0" "11" "6" "7569623" "7569623" "subst" "0.000712738" "00802" "DSP_000105" "g.7569623G>A" "" "unpublished, ARVD/C database 7824" "" "" "" "Germline" "" "" "0" "" "" "g.7569390G>A" "" "benign" "" "0000441812" "0" "15" "6" "7571774" "7571774" "subst" "6.91029E-5" "00802" "DSP_000106" "g.7571774G>A" "" "unpublished, ARVD/C database 7825" "" "" "" "Germline" "" "" "0" "" "" "g.7571541G>A" "" "benign" "" "0000441813" "0" "11" "6" "7572058" "7572058" "subst" "7.032E-5" "00802" "DSP_000107" "g.7572058C>G" "" "unpublished, ARVD/C database 7826" "" "" "" "Germline" "" "" "0" "" "" "g.7571825C>G" "" "benign" "" "0000441814" "0" "11" "6" "7574532" "7574532" "subst" "4.10877E-6" "00802" "DSP_000108" "g.7574532C>T" "" "unpublished, ARVD/C database 7827" "" "" "" "Germline" "" "" "0" "" "" "g.7574299C>T" "" "benign" "" "0000441815" "0" "11" "6" "7574559" "7574559" "subst" "0" "00802" "DSP_000109" "g.7574559A>C" "" "unpublished, ARVD/C database 7828" "" "" "" "Germline" "" "" "0" "" "" "g.7574326A>C" "" "benign" "" "0000441816" "0" "55" "6" "7575015" "7575015" "subst" "1.21845E-5" "00802" "DSP_000110" "g.7575015G>A" "" "unpublished, ARVD/C database 7829" "" "" "" "Germline" "" "" "0" "" "" "g.7574782G>A" "" "VUS" "" "0000441817" "0" "15" "6" "7575561" "7575561" "subst" "0" "00802" "DSP_000111" "g.7575561T>C" "" "unpublished, ARVD/C database 7830" "" "" "" "Germline" "" "" "0" "" "" "g.7575328T>C" "" "benign" "" "0000441818" "0" "99" "6" "7575702" "7575705" "del" "0" "00802" "DSP_000112" "g.7575702_7575705del" "" "unpublished, ARVD/C database 7831" "" "2611_2614delGATA" "" "Germline" "" "" "0" "" "" "g.7575469_7575472del" "" "pathogenic" "" "0000441819" "0" "55" "6" "7576619" "7576619" "subst" "0.00116217" "00802" "DSP_000113" "g.7576619G>A" "" "unpublished, ARVD/C database 7832" "" "" "" "Germline" "" "" "0" "" "" "g.7576386G>A" "" "VUS" "" "0000441820" "0" "55" "6" "7577213" "7577213" "subst" "0.00276531" "00802" "DSP_000114" "g.7577213G>A" "" "unpublished, ARVD/C database 7833" "" "" "" "Germline" "" "" "0" "" "" "g.7576980G>A" "" "VUS" "" "0000441821" "0" "15" "6" "7579726" "7579726" "subst" "4.07495E-5" "00802" "DSP_000115" "g.7579726C>T" "" "unpublished, ARVD/C database 7834" "" "" "" "Germline" "" "" "0" "" "" "g.7579493C>T" "" "benign" "" "0000441822" "0" "11" "6" "7580386" "7580386" "subst" "0.0129344" "00802" "DSP_000116" "g.7580386G>A" "" "unpublished, ARVD/C database 7835" "" "" "" "Germline" "" "rs61731476" "0" "" "" "g.7580153G>A" "" "benign" "" "0000441823" "0" "15" "6" "7580488" "7580488" "subst" "0.00083133" "00802" "DSP_000117" "g.7580488T>C" "" "unpublished, ARVD/C database 7836" "" "" "" "Germline" "" "" "0" "" "" "g.7580255T>C" "" "benign" "" "0000441824" "0" "15" "6" "7580806" "7580806" "subst" "0.00194765" "00802" "DSP_000118" "g.7580806G>A" "" "unpublished, ARVD/C database 7837" "" "" "" "Germline" "" "" "0" "" "" "g.7580573G>A" "" "benign" "" "0000441825" "0" "55" "6" "7581601" "7581601" "subst" "0.000739501" "00802" "DSP_000119" "g.7581601C>A" "" "unpublished, ARVD/C database 7838" "" "" "" "Germline" "" "" "0" "" "" "g.7581368C>A" "" "VUS" "" "0000441826" "0" "55" "6" "7581641" "7581641" "subst" "0.00141097" "00802" "DSP_000120" "g.7581641G>A" "" "unpublished, ARVD/C database 7839" "" "" "" "Germline" "" "" "0" "" "" "g.7581408G>A" "" "VUS" "" "0000441827" "0" "77" "6" "7582923" "7582923" "subst" "0" "00802" "DSP_000121" "g.7582923C>T" "" "unpublished, ARVD/C database 7840" "" "" "" "Germline" "" "" "0" "" "" "g.7582690C>T" "" "likely pathogenic" "" "0000441828" "0" "55" "6" "7583944" "7583944" "subst" "4.06379E-6" "00802" "DSP_000122" "g.7583944C>G" "" "unpublished, ARVD/C database 7841" "" "" "" "Germline" "" "" "0" "" "" "g.7583711C>G" "" "VUS" "" "0000441829" "0" "55" "6" "7584376" "7584376" "subst" "0.000795874" "00802" "DSP_000123" "g.7584376C>G" "" "unpublished, ARVD/C database 7842" "" "" "" "Germline" "" "" "0" "" "" "g.7584143C>G" "" "VUS" "" "0000441830" "0" "55" "6" "7585807" "7585807" "subst" "0" "00802" "DSP_000124" "g.7585807C>T" "" "unpublished, ARVD/C database 7843" "" "" "" "Germline" "" "" "0" "" "" "g.7585574C>T" "" "VUS" "" "0000441831" "0" "75" "6" "7585995" "7585995" "subst" "3.314E-5" "00802" "DSP_000125" "g.7585995C>T" "" "unpublished, ARVD/C database 7844" "" "" "" "Germline" "" "" "0" "" "" "g.7585762C>T" "" "likely pathogenic" "" "0000441832" "0" "55" "6" "7586031" "7586031" "subst" "4.13298E-6" "00802" "DSP_000126" "g.7586031C>G" "" "unpublished, ARVD/C database 7845" "" "" "" "Germline" "" "" "0" "" "" "g.7585798C>G" "" "VUS" "" "0000441833" "0" "15" "6" "7585910" "7585910" "subst" "4.47293E-5" "00802" "DSP_000127" "g.7585910C>T" "" "unpublished, ARVD/C database 7846" "" "" "" "Germline" "" "" "0" "" "" "g.7585677C>T" "" "benign" "" "0000441834" "0" "11" "6" "7586153" "7586153" "subst" "0" "00802" "DSP_000128" "g.7586153A>G" "" "unpublished, ARVD/C database 7847" "" "" "" "Germline" "" "" "0" "" "" "g.7585920A>G" "" "benign" "" "0000441835" "11" "99" "6" "7575607" "7575610" "del" "0" "00802" "DSP_000129" "g.7575607_7575610del" "" "{PMID:Tanaka:19016709}, ARVD/C database 7856" "" "2516_2519delACTC" "" "Germline" "" "" "0" "" "" "g.7575374_7575377del" "" "pathogenic" "" "0000441836" "21" "99" "6" "7580394" "7580397" "del" "0" "00802" "DSP_000130" "g.7580394_7580397del" "" "{PMID:Tanaka:19016709}, ARVD/C database 7857" "" "3971_3974delATAA" "" "Germline" "" "" "0" "" "" "g.7580161_7580164del" "" "pathogenic" "" "0000441837" "0" "97" "6" "7565711" "7565711" "subst" "0" "00802" "DSP_000016" "g.7565711C>G" "" "{PMID:Asimaki:19279339}, ARVD/C database 7384" "" "" "" "Germline" "" "" "0" "" "" "g.7565478C>G" "" "pathogenic" "" "0000441838" "0" "99" "6" "7565754" "7565754" "subst" "0" "00802" "DSP_000018" "g.7565754G>A" "" "{PMID:Asimaki:19279339}, ARVD/C database 7634" "" "" "" "Germline" "" "" "0" "" "" "g.7565521G>A" "" "pathogenic" "" "0000441839" "0" "99" "6" "7579760" "7579760" "subst" "0" "00802" "DSP_000053" "g.7579760C>T" "" "{PMID:Asimaki:19279339}, ARVD/C database 7629" "" "" "" "Germline" "" "" "0" "" "" "g.7579527C>T" "" "pathogenic" "" "0000441840" "0" "95" "6" "7578093" "7578093" "subst" "0" "00802" "DSP_000131" "g.7578093T>C" "" "{PMID:Dalal 2009:19358943}, ARVD/C database 7861" "" "S986P" "" "Germline" "" "" "0" "" "" "g.7577860T>C" "" "pathogenic" "" "0000441841" "11" "99" "6" "7572188" "7572188" "subst" "0" "00802" "DSP_000132" "g.7572188C>T" "" "{PMID:Asimaki:19178614}, ARVD/C database 7862" "" "" "" "Germline" "" "" "0" "" "" "g.7571955C>T" "" "pathogenic" "" "0000441842" "21" "99" "6" "7580759" "7580759" "subst" "0" "00802" "DSP_000133" "g.7580759C>T" "" "{PMID:Asimaki:19178614}, ARVD/C database 7863" "" "" "" "Germline" "" "" "0" "" "" "g.7580526C>T" "" "pathogenic" "" "0000441843" "0" "99" "6" "7565622" "7565622" "subst" "0" "00802" "DSP_000134" "g.7565622C>T" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7912" "" "" "" "Germline" "" "" "0" "" "" "g.7565389C>T" "" "pathogenic" "" "0000441844" "0" "97" "6" "7580433" "7580435" "del" "0" "00802" "DSP_000135" "g.7580433_7580435del" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7911" "" "4010_4012delAGG" "" "Germline" "" "" "0" "" "" "g.7580200_7580202del" "" "pathogenic" "" "0000441845" "0" "99" "6" "7580880" "7580880" "subst" "0" "00802" "DSP_000136" "g.7580880T>A" "" "{PMID:Dalal 2006:16549640}, {PMID:den Haan:20031617}, ARVD/C database 7910" "" "" "" "Germline" "" "" "0" "" "" "g.7580647T>A" "" "pathogenic" "" "0000441846" "0" "55" "6" "7556058" "7556058" "subst" "0.000277823" "00802" "DSP_000137" "g.7556058G>A" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7896" "" "" "" "Germline" "" "" "0" "" "" "g.7555825G>A" "" "VUS" "" "0000441847" "0" "99" "6" "7565631" "7565631" "subst" "0" "00802" "DSP_000138" "g.7565631C>T" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7891" "" "" "" "Germline" "" "" "0" "" "" "g.7565398C>T" "" "pathogenic" "" "0000441848" "0" "75" "6" "7567666" "7567666" "subst" "0" "00802" "DSP_000139" "g.7567666A>T" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7894" "" "" "" "Germline" "" "" "0" "" "" "g.7567433A>T" "" "likely pathogenic" "" "0000441849" "0" "75" "6" "7568775" "7568775" "subst" "8.12962E-6" "00802" "DSP_000140" "g.7568775A>T" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7895" "" "" "" "Germline" "" "" "0" "" "" "g.7568542A>T" "" "likely pathogenic" "" "0000441850" "0" "99" "6" "7579626" "7579627" "del" "0" "00802" "DSP_000141" "g.7579626_7579627del" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7892" "" "3203_3204delAG?" "DNA change not specified" "Germline" "" "" "0" "" "" "g.7579393_7579394del" "" "pathogenic" "" "0000441851" "0" "99" "6" "7579760" "7579760" "subst" "0" "00802" "DSP_000053" "g.7579760C>T" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7629" "" "" "" "Germline" "" "" "0" "" "" "g.7579527C>T" "" "pathogenic" "" "0000441852" "0" "55" "6" "7580197" "7580197" "subst" "1.22134E-5" "00802" "DSP_000142" "g.7580197C>A" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7897" "" "" "" "Germline" "" "" "0" "" "" "g.7579964C>A" "" "VUS" "" "0000441853" "0" "55" "6" "7581226" "7581226" "" "0" "00802" "DSP_000143" "g.7581226G>H" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7898" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000441854" "0" "99" "6" "7583818" "7583818" "subst" "0" "00802" "DSP_000144" "g.7583818C>A" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7893" "" "" "" "Germline" "" "" "0" "" "" "g.7583585C>A" "" "pathogenic" "" "0000441855" "0" "95" "6" "7568736" "7568736" "subst" "0" "00802" "DSP_000145" "g.7568736A>G" "" "{PMID:den Haan:20031617}, ARVD/C database 7874" "" "1331A>G" "" "Germline" "" "" "0" "" "" "g.7568503A>G" "" "pathogenic" "" "0000441856" "0" "11" "6" "7580937" "7580937" "subst" "6.96094E-5" "00802" "DSP_000146" "g.7580937C>T" "" "{PMID:den Haan:20031617}, ARVD/C database 7879" "" "" "" "Germline" "" "" "0" "" "" "g.7580704C>T" "" "benign" "" "0000441857" "0" "11" "6" "7563020" "7563020" "subst" "4.8765E-5" "00802" "DSP_000147" "g.7563020G>C" "" "unpublished, ARVD/C database 7918" "" "" "" "Germline" "" "" "0" "" "" "g.7562787G>C" "" "benign" "" "0000441858" "0" "55" "6" "7579685" "7579685" "subst" "0" "00802" "DSP_000148" "g.7579685T>C" "" "unpublished, ARVD/C database 7919" "" "" "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" "" "0000441859" "0" "55" "6" "7580988" "7580988" "subst" "6.1229E-5" "00802" "DSP_000149" "g.7580988C>T" "" "unpublished, ARVD/C database 7920" "" "" "" "Germline" "" "" "0" "" "" "g.7580755C>T" "" "VUS" "" "0000441860" "0" "55" "6" "7585602" "7585602" "subst" "4.06151E-6" "00802" "DSP_000150" "g.7585602G>A" "" "unpublished, ARVD/C database 7921" "" "" "" "Germline" "" "" "0" "" "" "g.7585369G>A" "" "VUS" "" "0000441861" "0" "55" "6" "7585815" "7585815" "subst" "6.49831E-5" "00802" "DSP_000151" "g.7585815C>T" "" "unpublished, ARVD/C database 7922" "" "" "" "Germline" "" "" "0" "" "" "g.7585582C>T" "" "VUS" "" "0000441862" "0" "95" "6" "7585279" "7585279" "subst" "8.12183E-6" "00802" "DSP_000152" "g.7585279C>T" "" "{PMID:Krahn:19597050}, ARVD/C database 7944" "" "" "" "Germline" "" "" "0" "" "" "g.7585046C>T" "" "pathogenic" "" "0000441863" "0" "99" "6" "7584998" "7585003" "del" "0" "00802" "DSP_000156" "g.7584998_7585003del" "" "{PMID:Barahona-Dussault:19863551}" "" "7503_7508delTGAATG" "" "Germline" "" "" "0" "" "" "g.7584765_7584770del" "" "pathogenic" "" "0000441864" "0" "95" "6" "7556049" "7556049" "subst" "0.000700771" "00802" "DSP_000005" "g.7556049A>G" "" "{PMID:Xu 2010:20152563}, ARVD/C database 7377" "" "" "" "Germline" "" "" "0" "" "" "g.7555816A>G" "" "pathogenic" "" "0000441865" "0" "99" "6" "7562907" "7562907" "subst" "0" "00802" "DSP_000157" "g.7562907G>A" "" "{PMID:Xu 2010:20152563}, ARVD/C database 7981" "" "" "" "Germline" "" "" "0" "" "" "g.7562674G>A" "" "pathogenic" "" "0000441866" "0" "95" "6" "7562975" "7562975" "subst" "0.000536128" "00802" "DSP_000158" "g.7562975G>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7979" "" "" "" "Germline" "" "" "0" "" "" "g.7562742G>A" "" "pathogenic" "" "0000441867" "0" "95" "6" "7570693" "7570693" "subst" "0" "00802" "DSP_000159" "g.7570693T>C" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7978" "" "" "" "Germline" "" "" "0" "" "" "g.7570460T>C" "" "pathogenic" "" "0000441868" "0" "55" "6" "7585996" "7585996" "subst" "0" "00802" "DSP_000087" "g.7585996G>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7433" "" "" "" "Germline" "" "" "0" "" "" "g.7585763G>A" "" "VUS" "" "0000441869" "0" "95" "6" "7567666" "7567666" "subst" "0" "00802" "DSP_000139" "g.7567666A>T" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7894" "" "" "" "Germline" "" "" "0" "" "" "g.7567433A>T" "" "pathogenic" "" "0000441870" "0" "95" "6" "7566639" "7566644" "del" "0" "03133" "DSP_000160" "g.7566639_7566644del" "" "{PMID:Rasmussen 2013:23137101}" "" "969_974delAAAAGA" "" "Germline" "" "" "0" "" "" "g.7566406_7566411del" "" "pathogenic" "" "0000441871" "0" "95" "6" "7580228" "7580228" "subst" "4.07093E-6" "03133" "DSP_000161" "g.7580228C>T" "" "{PMID:Rasmussen 2013:23137101}" "" "" "" "Germline" "" "" "0" "" "" "g.7579995C>T" "" "pathogenic" "" "0000441872" "10" "95" "6" "7585275" "7585275" "del" "0" "03133" "DSP_000162" "g.7585275del" "" "{PMID:Rasmussen 2013:23137101}" "" "7780delT" "" "Germline" "" "" "0" "" "" "g.7585042del" "" "pathogenic" "" "0000441873" "20" "95" "6" "7585275" "7585275" "del" "0" "03133" "DSP_000162" "g.7585275del" "" "{PMID:Rasmussen 2013:23137101}" "" "7780delT" "" "Germline" "" "" "0" "" "" "g.7585042del" "" "pathogenic" "" "0000441874" "0" "55" "6" "7542294" "7542294" "subst" "1.22876E-5" "00802" "DSP_000163" "g.7542294C>G" "" "unpublished, ARVD/C database 8169" "" "" "" "Germline" "" "" "0" "" "" "g.7542061C>G" "" "VUS" "" "0000441875" "0" "55" "6" "7542299" "7542299" "subst" "0" "00802" "DSP_000164" "g.7542299G>T" "" "unpublished, ARVD/C database 8386" "" "" "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" "" "0000441876" "0" "55" "6" "7558529" "7558529" "subst" "0.00634198" "00802" "DSP_000165" "g.7558529C>G" "" "unpublished, ARVD/C database 7995" "" "" "" "Germline" "" "" "0" "" "" "g.7558296C>G" "" "VUS" "" "0000441877" "0" "55" "6" "7559436" "7559436" "subst" "0.00789088" "00802" "DSP_000166" "g.7559436T>A" "" "unpublished, ARVD/C database 7996" "" "" "" "Germline" "" "" "0" "" "" "g.7559203T>A" "" "VUS" "" "0000441878" "0" "55" "6" "7559443" "7559444" "ins" "0.00788963" "00802" "DSP_000167" "g.7559443_7559444insC" "" "unpublished, ARVD/C database 7997" "" "" "" "Germline" "" "" "0" "" "" "g.7559210_7559211insC" "" "VUS" "" "0000441879" "0" "55" "6" "7559629" "7559629" "subst" "0" "00802" "DSP_000168" "g.7559629A>C" "" "unpublished, ARVD/C database 8360" "" "" "" "Germline" "" "" "0" "" "" "g.7559396A>C" "" "VUS" "" "0000441880" "0" "55" "6" "7562888" "7586054" "del" "0" "00802" "DSP_000169" "g.7562888_7586054del" "" "unpublished, ARVD/C database 8216" "" "" "Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000441881" "0" "55" "6" "7562894" "7562894" "subst" "0" "00802" "DSP_000170" "g.7562894G>A" "" "unpublished, ARVD/C database 8635" "" "" "" "Germline" "" "" "0" "" "" "g.7562661G>A" "" "VUS" "" "0000441882" "0" "55" "6" "7562908" "7562908" "subst" "0" "00802" "DSP_000171" "g.7562908G>T" "" "unpublished, ARVD/C database 8340" "" "" "" "Germline" "" "" "0" "" "" "g.7562675G>T" "" "VUS" "" "0000441883" "0" "55" "6" "7562951" "7562951" "subst" "0" "00802" "DSP_000172" "g.7562951C>G" "" "unpublished, ARVD/C database 8171" "" "" "" "Germline" "" "" "0" "" "" "g.7562718C>G" "" "VUS" "" "0000441884" "0" "55" "6" "7562952" "7562952" "subst" "0" "00802" "DSP_000173" "g.7562952G>T" "" "unpublished, ARVD/C database 8395" "" "" "" "Germline" "" "" "0" "" "" "g.7562719G>T" "" "VUS" "" "0000441885" "0" "55" "6" "7566613" "7566613" "subst" "0.000101921" "00802" "DSP_000174" "g.7566613C>T" "" "unpublished, ARVD/C database 8629" "" "" "" "Germline" "" "" "0" "" "" "g.7566380C>T" "" "VUS" "" "0000441886" "0" "55" "6" "7566610" "7566616" "dup" "0" "00802" "DSP_000175" "g.7566610_7566616dup" "" "unpublished, ARVD/C database 8218" "" "" "" "Germline" "" "" "0" "" "" "g.7566377_7566383dup" "" "VUS" "" "0000441887" "0" "55" "6" "7568048" "7568048" "subst" "0" "00802" "DSP_000176" "g.7568048T>C" "" "unpublished, ARVD/C database 8124" "" "" "" "Germline" "" "" "0" "" "" "g.7567815T>C" "" "VUS" "" "0000441888" "0" "55" "6" "7568070" "7568070" "subst" "2.4391E-5" "00802" "DSP_000177" "g.7568070C>G" "" "unpublished, ARVD/C database 8364" "" "" "" "Germline" "" "" "0" "" "" "g.7567837C>G" "" "VUS" "" "0000441889" "0" "55" "6" "7568076" "7568076" "subst" "0" "00802" "DSP_000178" "g.7568076G>T" "" "unpublished, ARVD/C database 8362" "" "" "" "Germline" "" "" "0" "" "" "g.7567843G>T" "" "VUS" "" "0000441890" "0" "55" "6" "7568097" "7568097" "subst" "0" "00802" "DSP_000179" "g.7568097C>G" "" "unpublished, ARVD/C database 8223" "" "" "" "Germline" "" "" "0" "" "" "g.7567864C>G" "" "VUS" "" "0000441891" "0" "55" "6" "7568137" "7568137" "subst" "0" "00802" "DSP_000180" "g.7568137G>A" "" "unpublished, ARVD/C database 8088" "" "" "" "Germline" "" "" "0" "" "" "g.7567904G>A" "" "VUS" "" "0000441892" "0" "55" "6" "7568183" "7568183" "subst" "0" "00802" "DSP_000181" "g.7568183G>A" "" "unpublished, ARVD/C database 7992" "" "" "" "Germline" "" "" "0" "" "" "g.7567950G>A" "" "VUS" "" "0000441893" "0" "55" "6" "7568691" "7568691" "subst" "0" "00802" "DSP_000182" "g.7568691G>T" "" "unpublished, ARVD/C database 8309" "" "" "" "Germline" "" "" "0" "" "" "g.7568458G>T" "" "VUS" "" "0000441894" "0" "55" "6" "7568749" "7568749" "subst" "0" "00802" "DSP_000183" "g.7568749A>C" "" "unpublished, ARVD/C database 8189" "" "" "" "Germline" "" "" "0" "" "" "g.7568516A>C" "" "VUS" "" "0000441895" "0" "55" "6" "7566639" "7566644" "del" "0" "00802" "DSP_000160" "g.7566639_7566644del" "" "unpublished, ARVD/C database 8427" "" "969_974delAAAAGA" "" "Germline" "" "" "0" "" "" "g.7566406_7566411del" "" "VUS" "" "0000441896" "0" "55" "6" "7570786" "7570786" "subst" "0" "00802" "DSP_000184" "g.7570786C>T" "" "unpublished, ARVD/C database 8052" "" "" "" "Germline" "" "" "0" "" "" "g.7570553C>T" "" "VUS" "" "0000441897" "0" "55" "6" "7570840" "7570840" "subst" "0.000951764" "00802" "DSP_000185" "g.7570840G>A" "" "unpublished, ARVD/C database 7998" "" "" "" "Germline" "" "" "0" "" "" "g.7570607G>A" "" "VUS" "" "0000441898" "0" "55" "6" "7571662" "7571662" "subst" "0" "00802" "DSP_000186" "g.7571662T>C" "" "unpublished, ARVD/C database 8279" "" "" "needs to be confirmed." "Germline" "" "" "0" "" "" "g.7571429T>C" "" "VUS" "" "0000441899" "0" "55" "6" "7571704" "7571704" "subst" "0" "00802" "DSP_000187" "g.7571704C>T" "" "unpublished, ARVD/C database 8142" "" "" "" "Germline" "" "" "0" "" "" "g.7571471C>T" "" "VUS" "" "0000441900" "0" "55" "6" "7571767" "7571767" "subst" "0" "00802" "DSP_000188" "g.7571767A>C" "" "unpublished, ARVD/C database 8398" "" "" "" "Germline" "" "" "0" "" "" "g.7571534A>C" "" "VUS" "" "0000441901" "0" "55" "6" "7571775" "7571775" "subst" "0" "00802" "DSP_000189" "g.7571775A>C" "" "unpublished, ARVD/C database 7991" "" "" "" "Germline" "" "" "0" "" "" "g.7571542A>C" "" "VUS" "" "0000441902" "0" "55" "6" "7571787" "7571787" "subst" "0" "00802" "DSP_000190" "g.7571787C>T" "" "unpublished, ARVD/C database 8221" "" "" "" "Germline" "" "" "0" "" "" "g.7571554C>T" "" "VUS" "" "0000441903" "0" "55" "6" "7572153" "7572153" "subst" "0" "00802" "DSP_000191" "g.7572153A>T" "" "unpublished, ARVD/C database 8239" "" "" "" "Germline" "" "" "0" "" "" "g.7571920A>T" "" "VUS" "" "0000441904" "0" "55" "6" "7572302" "7572302" "subst" "0" "00802" "DSP_000192" "g.7572302G>C" "" "unpublished, ARVD/C database 8069" "" "" "" "Germline" "" "" "0" "" "" "g.7572069G>C" "" "VUS" "" "0000441905" "0" "55" "6" "7574318" "7574318" "subst" "0" "00802" "DSP_000193" "g.7574318G>A" "" "unpublished, ARVD/C database 8219" "" "" "" "Germline" "" "" "0" "" "" "g.7574085G>A" "" "VUS" "" "0000441906" "0" "55" "6" "7574938" "7574938" "subst" "0.00130829" "00802" "DSP_000194" "g.7574938C>T" "" "unpublished, ARVD/C database 8125" "" "" "" "Germline" "" "" "0" "" "" "g.7574705C>T" "" "VUS" "" "0000441907" "0" "55" "6" "7574938" "7574938" "subst" "0.00130829" "00802" "DSP_000194" "g.7574938C>T" "" "unpublished, ARVD/C database 8842" "" "" "" "Germline" "" "" "0" "" "" "g.7574705C>T" "" "VUS" "" "0000441908" "0" "55" "6" "7574952" "7574952" "subst" "0.000121877" "00802" "DSP_000195" "g.7574952A>G" "" "unpublished, ARVD/C database 8356" "" "" "" "Germline" "" "" "0" "" "" "g.7574719A>G" "" "VUS" "" "0000441909" "0" "55" "6" "7575014" "7575014" "subst" "0.000296492" "00802" "DSP_000196" "g.7575014C>T" "" "unpublished, ARVD/C database 7994" "" "" "" "Germline" "" "" "0" "" "" "g.7574781C>T" "" "VUS" "" "0000441910" "0" "55" "6" "7575580" "7575580" "subst" "8.12308E-6" "00802" "DSP_000197" "g.7575580C>T" "" "unpublished, ARVD/C database 8174" "" "" "" "Germline" "" "" "0" "" "" "g.7575347C>T" "" "VUS" "" "0000441911" "0" "55" "6" "7575687" "7575687" "subst" "4.06167E-6" "00802" "DSP_000198" "g.7575687C>A" "" "unpublished, ARVD/C database 8175" "" "" "" "Germline" "" "" "0" "" "" "g.7575454C>A" "" "VUS" "" "0000441912" "0" "55" "6" "7575687" "7575687" "subst" "0.000491462" "00802" "DSP_000199" "g.7575687C>T" "" "unpublished, ARVD/C database 8631" "" "" "" "Germline" "" "" "0" "" "" "g.7575454C>T" "" "VUS" "" "0000441913" "0" "55" "6" "7575701" "7575701" "subst" "0" "00802" "DSP_000200" "g.7575701A>G" "" "unpublished, ARVD/C database 8073" "" "" "" "Germline" "" "" "0" "" "" "g.7575468A>G" "" "VUS" "" "0000441914" "0" "55" "6" "7576540" "7576540" "subst" "2.43877E-5" "00802" "DSP_000201" "g.7576540G>A" "" "unpublished, ARVD/C database 8170" "" "" "" "Germline" "" "" "0" "" "" "g.7576307G>A" "" "VUS" "" "0000441915" "0" "55" "6" "7576569" "7576569" "subst" "0.00162566" "00802" "DSP_000202" "g.7576569T>C" "" "unpublished, ARVD/C database 7989" "" "" "" "Germline" "" "" "0" "" "" "g.7576336T>C" "" "VUS" "" "0000441916" "0" "55" "6" "7576579" "7576579" "subst" "0.000105659" "00802" "DSP_000203" "g.7576579T>C" "" "unpublished, ARVD/C database 8123" "" "" "" "Germline" "" "" "0" "" "" "g.7576346T>C" "" "VUS" "" "0000441917" "0" "55" "6" "7576616" "7576616" "subst" "2.43809E-5" "00802" "DSP_000204" "g.7576616G>A" "" "unpublished, ARVD/C database 8247" "" "" "" "Germline" "" "" "0" "" "" "g.7576383G>A" "" "VUS" "" "0000441918" "0" "55" "6" "7576661" "7576662" "del" "0" "00802" "DSP_000205" "g.7576661_7576662del" "" "unpublished, ARVD/C database 8072" "" "2765_2766delCA" "" "Germline" "" "" "0" "" "" "g.7576428_7576429del" "" "VUS" "" "0000441919" "0" "55" "6" "7577219" "7577219" "subst" "0" "00802" "DSP_000206" "g.7577219C>T" "" "unpublished, ARVD/C database 8220" "" "" "" "Germline" "" "" "0" "" "" "g.7576986C>T" "" "VUS" "" "0000441920" "0" "55" "6" "7577246" "7577246" "dup" "0" "00802" "DSP_000207" "g.7577246dup" "" "unpublished, ARVD/C database 8458" "" "" "" "Germline" "" "" "0" "" "" "g.7577013dup" "" "VUS" "" "0000441921" "0" "55" "6" "7577261" "7577261" "subst" "4.09705E-5" "00802" "DSP_000208" "g.7577261G>A" "" "unpublished, ARVD/C database 8061" "" "" "" "Germline" "" "" "0" "" "" "g.7577028G>A" "" "VUS" "" "0000441922" "0" "55" "6" "7577264" "7577264" "subst" "9.4459E-5" "00802" "DSP_000209" "g.7577264A>T" "" "unpublished, ARVD/C database 8176" "" "" "" "Germline" "" "" "0" "" "" "g.7577031A>T" "" "VUS" "" "0000441923" "0" "55" "6" "7578090" "7578090" "subst" "0" "00802" "DSP_000210" "g.7578090C>T" "" "unpublished, ARVD/C database 8291" "" "" "" "Germline" "" "" "0" "" "" "g.7577857C>T" "" "VUS" "" "0000441924" "0" "55" "6" "7579769" "7579769" "subst" "0" "00802" "DSP_000211" "g.7579769T>C" "" "unpublished, ARVD/C database 8397" "" "" "" "Germline" "" "" "0" "" "" "g.7579536T>C" "" "VUS" "" "0000441925" "0" "55" "6" "7579955" "7579955" "subst" "0" "00802" "DSP_000212" "g.7579955C>G" "" "unpublished, ARVD/C database 8222" "" "" "" "Germline" "" "" "0" "" "" "g.7579722C>G" "" "VUS" "" "0000441926" "0" "55" "6" "7579964" "7579964" "subst" "0" "00802" "DSP_000213" "g.7579964G>T" "" "unpublished, ARVD/C database 8408" "" "" "DNA change not reported" "Germline" "" "" "0" "" "" "g.7579731G>T" "" "VUS" "" "0000441927" "0" "55" "6" "7580024" "7580024" "subst" "8.13862E-6" "00802" "DSP_000214" "g.7580024G>A" "" "unpublished, ARVD/C database 8365" "" "" "" "Germline" "" "" "0" "" "" "g.7579791G>A" "" "VUS" "" "0000441928" "0" "55" "6" "7580073" "7580073" "subst" "0.000361924" "00802" "DSP_000215" "g.7580073C>T" "" "unpublished, ARVD/C database 8067" "" "" "" "Germline" "" "" "0" "" "" "g.7579840C>T" "" "VUS" "" "0000441929" "0" "55" "6" "7580207" "7580207" "subst" "0" "00802" "DSP_000216" "g.7580207C>T" "" "unpublished, ARVD/C database 8310" "" "" "" "Germline" "" "" "0" "" "" "g.7579974C>T" "" "VUS" "" "0000441930" "0" "55" "6" "7580228" "7580228" "subst" "4.07093E-6" "00802" "DSP_000161" "g.7580228C>T" "" "unpublished, ARVD/C database 8426" "" "" "" "Germline" "" "" "0" "" "" "g.7579995C>T" "" "VUS" "" "0000441931" "0" "55" "6" "7580285" "7580285" "subst" "0.000276695" "00802" "DSP_000217" "g.7580285A>C" "" "unpublished, ARVD/C database 8373" "" "" "" "Germline" "" "" "0" "" "" "g.7580052A>C" "" "VUS" "" "0000441932" "0" "55" "6" "7580286" "7580286" "subst" "1.22063E-5" "00802" "DSP_000218" "g.7580286A>G" "" "unpublished, ARVD/C database 8060" "" "" "" "Germline" "" "" "0" "" "" "g.7580053A>G" "" "VUS" "" "0000441933" "0" "55" "6" "7580324" "7580324" "subst" "0" "00802" "DSP_000219" "g.7580324C>T" "" "unpublished, ARVD/C database 8106" "" "" "" "Germline" "" "" "0" "" "" "g.7580091C>T" "" "VUS" "" "0000441934" "0" "55" "6" "7580418" "7580419" "del" "0" "00802" "DSP_000220" "g.7580418_7580419del" "" "unpublished, ARVD/C database 8047" "" "3995_3996delinsAATCGA" "" "Germline" "" "" "0" "" "" "g.7580185_7580186del" "" "VUS" "" "0000441935" "0" "55" "6" "7580423" "7580423" "subst" "0" "00802" "DSP_000221" "g.7580423T>C" "" "unpublished, ARVD/C database 8178" "" "" "" "Germline" "" "" "0" "" "" "g.7580190T>C" "" "VUS" "" "0000441936" "0" "55" "6" "7580466" "7580466" "subst" "1.62961E-5" "00802" "DSP_000222" "g.7580466T>G" "" "unpublished, ARVD/C database 8341" "" "" "" "Germline" "" "" "0" "" "" "g.7580233T>G" "" "VUS" "" "0000441937" "0" "55" "6" "7580540" "7580540" "subst" "7.72999E-5" "00802" "DSP_000223" "g.7580540A>G" "" "unpublished, ARVD/C database 8144" "" "" "" "Germline" "" "" "0" "" "" "g.7580307A>G" "" "VUS" "" "0000441938" "0" "55" "6" "7580621" "7580621" "subst" "4.06303E-6" "00802" "DSP_000224" "g.7580621C>T" "" "unpublished, ARVD/C database 8342" "" "" "" "Germline" "" "" "0" "" "" "g.7580388C>T" "" "VUS" "" "0000441939" "0" "55" "6" "7580818" "7580818" "subst" "0" "00802" "DSP_000225" "g.7580818T>G" "" "unpublished, ARVD/C database 8393" "" "" "" "Germline" "" "" "0" "" "" "g.7580585T>G" "" "VUS" "" "0000441940" "0" "55" "6" "7580878" "7580878" "" "0" "00802" "DSP_000226" "g.7580878G>Y" "" "unpublished, ARVD/C database 8179" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000441941" "0" "55" "6" "7580912" "7580912" "subst" "0.000290721" "00802" "DSP_000227" "g.7580912C>T" "" "unpublished, ARVD/C database 8180" "" "" "" "Germline" "" "" "0" "" "" "g.7580679C>T" "" "VUS" "" "0000441942" "0" "55" "6" "7580951" "7580951" "subst" "0" "00802" "DSP_000228" "g.7580951G>A" "" "unpublished, ARVD/C database 8366" "" "" "" "Germline" "" "" "0" "" "" "g.7580718G>A" "" "VUS" "" "0000441943" "0" "55" "6" "7581011" "7581011" "subst" "0.00175808" "00802" "DSP_000229" "g.7581011G>T" "" "unpublished, ARVD/C database 8126" "" "" "" "Germline" "" "" "0" "" "" "g.7580778G>T" "" "VUS" "" "0000441944" "0" "55" "6" "7581027" "7581027" "subst" "4.08037E-6" "00802" "DSP_000230" "g.7581027T>C" "" "unpublished, ARVD/C database 8224" "" "" "" "Germline" "" "" "0" "" "" "g.7580794T>C" "" "VUS" "" "0000441945" "0" "55" "6" "7581164" "7581164" "subst" "0.00022004" "00802" "DSP_000231" "g.7581164A>G" "" "unpublished, ARVD/C database 8359" "" "" "" "Germline" "" "" "0" "" "" "g.7580931A>G" "" "VUS" "" "0000441946" "0" "55" "6" "7581173" "7581173" "subst" "0.00025284" "00802" "DSP_000232" "g.7581173G>A" "" "unpublished, ARVD/C database 8630" "" "" "" "Germline" "" "" "0" "" "" "g.7580940G>A" "" "VUS" "" "0000441947" "0" "55" "6" "7581198" "7581198" "subst" "0.000224501" "00802" "DSP_000233" "g.7581198A>G" "" "unpublished, ARVD/C database 8242" "" "" "" "Germline" "" "" "0" "" "" "g.7580965A>G" "" "VUS" "" "0000441948" "0" "55" "6" "7581309" "7581309" "subst" "5.31906E-5" "00802" "DSP_000234" "g.7581309G>T" "" "unpublished, ARVD/C database 8181" "" "" "" "Germline" "" "" "0" "" "" "g.7581076G>T" "" "VUS" "" "0000441949" "0" "55" "6" "7581338" "7581338" "subst" "4.08073E-5" "00802" "DSP_000235" "g.7581338G>A" "" "unpublished, ARVD/C database 8301" "" "" "" "Germline" "" "" "0" "" "" "g.7581105G>A" "" "VUS" "" "0000441950" "0" "55" "6" "7581366" "7581366" "subst" "0.000183332" "00802" "DSP_000236" "g.7581366A>G" "" "unpublished, ARVD/C database 8190" "" "" "" "Germline" "" "" "0" "" "" "g.7581133A>G" "" "VUS" "" "0000441951" "0" "55" "6" "7581396" "7581396" "subst" "4.06825E-6" "00802" "DSP_000237" "g.7581396C>T" "" "unpublished, ARVD/C database 8316" "" "" "" "Germline" "" "" "0" "" "" "g.7581163C>T" "" "VUS" "" "0000441952" "0" "55" "6" "7581525" "7581525" "subst" "0" "00802" "DSP_000238" "g.7581525T>C" "" "unpublished, ARVD/C database 8177" "" "" "" "Germline" "" "" "0" "" "" "g.7581292T>C" "" "VUS" "" "0000441953" "0" "55" "6" "7581618" "7581618" "subst" "0" "00802" "DSP_000239" "g.7581618A>G" "" "unpublished, ARVD/C database 8182" "" "" "" "Germline" "" "" "0" "" "" "g.7581385A>G" "" "VUS" "" "0000441954" "0" "55" "6" "7581631" "7581632" "del" "0" "00802" "DSP_000240" "g.7581631_7581632del" "" "unpublished, ARVD/C database 8253" "" "5208_5209delAG" "" "Germline" "" "" "0" "" "" "g.7581398_7581399del" "" "VUS" "" "0000441955" "0" "55" "6" "7581739" "7581739" "subst" "0.000349707" "00802" "DSP_000241" "g.7581739T>C" "" "unpublished, ARVD/C database 7990" "" "" "" "Germline" "" "" "0" "" "" "g.7581506T>C" "" "VUS" "" "0000441956" "0" "55" "6" "7582914" "7582914" "subst" "0" "00802" "DSP_000242" "g.7582914C>T" "" "unpublished, ARVD/C database 8396" "" "" "" "Germline" "" "" "0" "" "" "g.7582681C>T" "" "VUS" "" "0000441957" "0" "55" "6" "7582944" "7582944" "subst" "4.07E-6" "00802" "DSP_000243" "g.7582944G>A" "" "unpublished, ARVD/C database 7993" "" "" "" "Germline" "" "" "0" "" "" "g.7582711G>A" "" "VUS" "" "0000441958" "0" "55" "6" "7583008" "7583008" "subst" "8.12519E-5" "00802" "DSP_000244" "g.7583008G>A" "" "unpublished, ARVD/C database 8117" "" "" "" "Germline" "" "" "0" "" "" "g.7582775G>A" "" "VUS" "" "0000441959" "0" "55" "6" "7583088" "7583088" "subst" "0.000434507" "00802" "DSP_000245" "g.7583088A>T" "" "unpublished, ARVD/C database 8192" "" "" "" "Germline" "" "" "0" "" "" "g.7582855A>T" "" "VUS" "" "0000441960" "0" "55" "6" "7583091" "7583091" "subst" "0" "00802" "DSP_000246" "g.7583091C>T" "" "unpublished, ARVD/C database 8145" "" "" "" "Germline" "" "" "0" "" "" "g.7582858C>T" "" "VUS" "" "0000441961" "0" "55" "6" "7583112" "7583112" "subst" "8.52972E-5" "00802" "DSP_000247" "g.7583112C>T" "" "unpublished, ARVD/C database 8183" "" "" "" "Germline" "" "" "0" "" "" "g.7582879C>T" "" "VUS" "" "0000441962" "0" "55" "6" "7583295" "7583295" "subst" "0" "00802" "DSP_000248" "g.7583295C>T" "" "unpublished, ARVD/C database 8048" "" "" "" "Germline" "" "" "0" "" "" "g.7583062C>T" "" "VUS" "" "0000441963" "0" "55" "6" "7583494" "7583495" "delins" "0" "00802" "DSP_000249" "g.7583494_7583495delinsG" "" "unpublished, ARVD/C database 8049" "" "" "" "Germline" "" "" "0" "" "" "g.7583261_7583262delinsG" "" "VUS" "" "0000441964" "0" "55" "6" "7583505" "7583505" "subst" "1.21863E-5" "00802" "DSP_000250" "g.7583505G>T" "" "unpublished, ARVD/C database 8187" "" "" "" "Germline" "" "" "0" "" "" "g.7583272G>T" "" "VUS" "" "0000441965" "0" "55" "6" "7583661" "7583661" "subst" "4.07651E-6" "00802" "DSP_000251" "g.7583661G>C" "" "unpublished, ARVD/C database 8097" "" "" "" "Germline" "" "" "0" "" "" "g.7583428G>C" "" "VUS" "" "0000441966" "0" "55" "6" "7583814" "7583814" "subst" "7.71661E-5" "00802" "DSP_000252" "g.7583814G>C" "" "unpublished, ARVD/C database 8074" "" "" "" "Germline" "" "" "0" "" "" "g.7583581G>C" "" "VUS" "" "0000441967" "0" "55" "6" "7583951" "7583951" "dup" "0" "00802" "DSP_000253" "g.7583951dup" "" "unpublished, ARVD/C database 8394" "" "6456dupG" "" "Germline" "" "" "0" "" "" "g.7583718dup" "" "VUS" "" "0000441968" "0" "55" "6" "7584150" "7584150" "subst" "0.000564706" "00802" "DSP_000254" "g.7584150G>A" "" "unpublished, ARVD/C database 8184" "" "" "" "Germline" "" "" "0" "" "" "g.7583917G>A" "" "VUS" "" "0000441969" "0" "55" "6" "7584173" "7584173" "subst" "0.00125104" "00802" "DSP_000255" "g.7584173T>A" "" "unpublished, ARVD/C database 8129" "" "" "" "Germline" "" "" "0" "" "" "g.7583940T>A" "" "VUS" "" "0000441970" "0" "55" "6" "7584294" "7584294" "subst" "0.000312734" "00802" "DSP_000256" "g.7584294A>T" "" "unpublished, ARVD/C database 8128" "" "" "" "Germline" "" "" "0" "" "" "g.7584061A>T" "" "VUS" "" "0000441971" "0" "55" "6" "7584345" "7584345" "subst" "0" "00802" "DSP_000257" "g.7584345C>T" "" "unpublished, ARVD/C database 8050" "" "" "" "Germline" "" "" "0" "" "" "g.7584112C>T" "" "VUS" "" "0000441972" "0" "55" "6" "7584380" "7584380" "subst" "0" "00802" "DSP_000258" "g.7584380A>T" "" "unpublished, ARVD/C database 8784" "" "" "" "Germline" "" "" "0" "" "" "g.7584147A>T" "" "VUS" "" "0000441973" "0" "55" "6" "7584522" "7584522" "subst" "0" "00802" "DSP_000259" "g.7584522G>A" "" "unpublished, ARVD/C database 8053" "" "" "" "Germline" "" "" "0" "" "" "g.7584289G>A" "" "VUS" "" "0000441974" "0" "55" "6" "7584534" "7584534" "subst" "1.21828E-5" "00802" "DSP_000260" "g.7584534A>G" "" "unpublished, ARVD/C database 8317" "" "" "" "Germline" "" "" "0" "" "" "g.7584301A>G" "" "VUS" "" "0000441975" "0" "55" "6" "7584712" "7584712" "subst" "0" "00802" "DSP_000261" "g.7584712C>A" "" "unpublished, ARVD/C database 8387" "" "" "" "Germline" "" "" "0" "" "" "g.7584479C>A" "" "VUS" "" "0000441976" "0" "55" "6" "7585029" "7585029" "subst" "8.12137E-6" "00802" "DSP_000262" "g.7585029G>T" "" "unpublished, ARVD/C database 8188" "" "" "" "Germline" "" "" "0" "" "" "g.7584796G>T" "" "VUS" "" "0000441977" "0" "55" "6" "7585118" "7585118" "subst" "0" "00802" "DSP_000263" "g.7585118G>T" "" "unpublished, ARVD/C database 8343" "" "" "" "Germline" "" "" "0" "" "" "g.7584885G>T" "" "VUS" "" "0000441978" "0" "55" "6" "7585180" "7585182" "del" "0" "00802" "DSP_000264" "g.7585180_7585182del" "" "unpublished, ARVD/C database 8063" "" "7685_7687delCCT" "" "Germline" "" "" "0" "" "" "g.7584947_7584949del" "" "VUS" "" "0000441979" "0" "55" "6" "7585275" "7585275" "del" "0" "00802" "DSP_000162" "g.7585275del" "" "unpublished, ARVD/C database 8425" "" "7780delT" "" "Germline" "" "" "0" "" "" "g.7585042del" "" "VUS" "" "0000441980" "0" "55" "6" "7585347" "7585347" "subst" "2.44111E-5" "00802" "DSP_000265" "g.7585347C>T" "" "unpublished, ARVD/C database 8172" "" "" "" "Germline" "" "" "0" "" "" "g.7585114C>T" "" "VUS" "" "0000441981" "0" "55" "6" "7585410" "7585410" "subst" "4.07103E-5" "00802" "DSP_000266" "g.7585410C>T" "" "unpublished, ARVD/C database 8054" "" "" "" "Germline" "" "" "0" "" "" "g.7585177C>T" "" "VUS" "" "0000441982" "0" "55" "6" "7585494" "7585494" "subst" "0" "00802" "DSP_000267" "g.7585494C>T" "" "unpublished, ARVD/C database 8051" "" "" "" "Germline" "" "" "0" "" "" "g.7585261C>T" "" "VUS" "" "0000441983" "0" "55" "6" "7585514" "7585514" "subst" "0.000195305" "00802" "DSP_000268" "g.7585514C>T" "" "unpublished, ARVD/C database 7999" "" "" "" "Germline" "" "" "0" "" "" "g.7585281C>T" "" "VUS" "" "0000441984" "0" "55" "6" "7585561" "7585561" "subst" "0" "00802" "DSP_000269" "g.7585561A>C" "" "unpublished, ARVD/C database 8344" "" "" "" "Germline" "" "" "0" "" "" "g.7585328A>C" "" "VUS" "" "0000441985" "0" "55" "6" "7585629" "7585629" "subst" "4.06108E-6" "00802" "DSP_000270" "g.7585629G>A" "" "unpublished, ARVD/C database 8070" "" "" "" "Germline" "" "" "0" "" "" "g.7585396G>A" "" "VUS" "" "0000441986" "0" "55" "6" "7585669" "7585669" "subst" "8.12328E-6" "00802" "DSP_000271" "g.7585669G>A" "" "unpublished, ARVD/C database 8127" "" "" "" "Germline" "" "" "0" "" "" "g.7585436G>A" "" "VUS" "" "0000441987" "0" "55" "6" "7585667" "7585667" "" "0" "00802" "DSP_000272" "g.7585667G>Y" "" "unpublished, ARVD/C database 8173" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000441988" "0" "55" "6" "7585686" "7585686" "subst" "0.00258308" "00802" "DSP_000298" "g.7585686T>C" "" "unpublished, ARVD/C database 8185" "" "" "" "Germline" "" "" "0" "" "" "g.7585453T>C" "" "VUS" "" "0000441989" "0" "55" "6" "7585764" "7585764" "subst" "0" "00802" "DSP_000274" "g.7585764G>C" "" "unpublished, ARVD/C database 8355" "" "" "" "Germline" "" "" "0" "" "" "g.7585531G>C" "" "VUS" "" "0000441990" "0" "55" "6" "7585770" "7585770" "subst" "4.0627E-6" "00802" "DSP_000275" "g.7585770C>A" "" "unpublished, ARVD/C database 8225" "" "" "" "Germline" "" "" "0" "" "" "g.7585537C>A" "" "VUS" "" "0000441991" "0" "55" "6" "7585788" "7585789" "ins" "0" "00802" "DSP_000276" "g.7585788_7585789insTTGC" "" "unpublished, ARVD/C database 8249" "" "" "" "Germline" "" "" "0" "" "" "g.7585555_7585556insTTGC" "" "VUS" "" "0000441992" "0" "55" "6" "7585950" "7585950" "subst" "0.0020843" "00802" "DSP_000277" "g.7585950A>C" "" "unpublished, ARVD/C database 8186" "" "" "" "Germline" "" "" "0" "" "" "g.7585717A>C" "" "VUS" "" "0000441993" "0" "55" "6" "7585957" "7585957" "subst" "5.3304E-5" "00802" "DSP_000278" "g.7585957C>T" "" "unpublished, ARVD/C database 8250" "" "8461C>T" "" "Germline" "" "" "0" "" "" "g.7585724C>T" "" "VUS" "" "0000441994" "0" "55" "6" "7585990" "7585990" "subst" "4.13097E-6" "00802" "DSP_000279" "g.7585990G>T" "" "unpublished, ARVD/C database 8456" "" "" "" "Germline" "" "" "0" "" "" "g.7585757G>T" "" "VUS" "" "0000441995" "0" "55" "6" "7586024" "7586035" "del" "0" "00802" "DSP_000280" "g.7586024_7586035del" "" "unpublished, ARVD/C database 8191" "" "8527_8538del12" "" "Germline" "" "" "0" "" "" "g.7585791_7585802del" "" "VUS" "" "0000441996" "0" "55" "6" "7586026" "7586026" "subst" "4.18803E-6" "00802" "DSP_000281" "g.7586026G>T" "" "unpublished, ARVD/C database 8102" "" "" "" "Germline" "" "" "0" "" "" "g.7585793G>T" "" "VUS" "" "0000441997" "0" "55" "6" "7542236" "7542236" "subst" "0.00160304" "03133" "DSP_000002" "g.7542236G>A" "" "{PMID:Rasmussen 2013:23137101}" "" "" "patient also carries the DSG2-c.137G>A, p.Arg46Gln mutation" "Germline" "" "" "0" "" "" "g.7542003G>A" "" "VUS" "" "0000441998" "0" "55" "6" "7571692" "7571692" "subst" "0.000536498" "03133" "DSP_000032" "g.7571692A>G" "" "" "" "" "Patient also carries the DSG2-c137G>A, p.Arg46Gln mutation" "Germline" "" "" "0" "" "" "g.7571459A>G" "" "VUS" "" "0000442441" "3" "10" "6" "7564018" "7564018" "subst" "0" "00006" "DSP_000578" "g.7564018T>A" "" "{PMID:Norgett 2006:16628197}" "" "1055T>A (L259Q)" "" "Germline" "" "" "0" "" "" "g.7563785T>A" "" "benign" "" "0000442442" "3" "10" "6" "7568014" "7568014" "subst" "0" "00006" "DSP_000579" "g.7568014T>G" "" "{PMID:Norgett 2006:16628197}" "" "1420T>G (F381V)" "" "Germline" "" "" "0" "" "" "g.7567781T>G" "" "benign" "" "0000442443" "0" "10" "6" "7577260" "7577260" "subst" "0.239441" "00006" "DSP_000043" "g.7577260C>T" "" "{PMID:Norgett 2006:16628197}" "" "3141C>T (C954C)" "" "Germline" "" "" "0" "" "" "g.7577027C>T" "" "benign" "" "0000442444" "0" "10" "6" "7581636" "7581636" "subst" "0.172202" "00006" "DSP_000067" "g.7581636G>A" "" "{PMID:Norgett 2006:16628197}" "" "5492G>A (R1738Q)" "" "Germline" "" "rs6929069" "0" "" "" "g.7581403G>A" "" "benign" "" "0000442445" "0" "10" "6" "7585967" "7585967" "subst" "0.713746" "00006" "DSP_000086" "g.7585967G>C" "" "{PMID:Norgett 2006:16628197}" "" "8751G>C (G2824G)" "" "Germline" "" "rs2744380" "0" "" "" "g.7585734G>C" "" "benign" "" "0000442446" "20" "90" "6" "7542236" "7542236" "subst" "0.00160304" "00006" "DSP_000002" "g.7542236G>A" "" "{PMID:Bauce 2010:20129281}" "" "" "variant in 7 other family members (young), 1 affected" "Germline" "" "" "0" "" "" "g.7542003G>A" "" "pathogenic (dominant)" "" "0000442447" "10" "90" "6" "7585117" "7585117" "subst" "1.62423E-5" "00006" "DSP_000079" "g.7585117G>A" "" "{PMID:Bauce 2010:20129281}" "" "" "variant in 5 other family members (young), 2 affected" "Germline" "" "" "0" "" "" "g.7584884G>A" "" "pathogenic (dominant)" "" "0000442450" "11" "50" "6" "7581384" "7581384" "subst" "2.8491E-5" "00006" "DSP_000066" "g.7581384T>C" "" "{PMID:Bauce 2010:20129281}" "" "L1654P" "variant in 5 other family members (young), 2 affected" "Germline" "" "" "0" "" "" "g.7581151T>C" "" "VUS" "" "0000442454" "0" "50" "6" "7580187" "7580187" "subst" "2.4431E-5" "00006" "DSP_000056" "g.7580187G>A" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.7579954G>A" "" "VUS" "" "0000442461" "0" "50" "6" "7581032" "7581032" "subst" "0.00874909" "00006" "DSP_000063" "g.7581032C>T" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.7580799C>T" "" "VUS" "" "0000442464" "0" "50" "6" "7542236" "7542236" "subst" "0.00160304" "00006" "DSP_000002" "g.7542236G>A" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.7542003G>A" "" "VUS" "" "0000470408" "0" "30" "6" "7581032" "7581032" "subst" "0.00874909" "00006" "DSP_000063" "g.7581032C>T" "" "{PMID:Marston 2015:26406308}" "" "R1537C" "" "Germline" "" "" "0" "" "" "g.7580799C>T" "" "likely benign" "" "0000471079" "0" "90" "6" "7584522" "7584522" "subst" "0" "03236" "DSP_000259" "g.7584522G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.7584289G>A" "" "pathogenic" "" "0000471080" "0" "90" "6" "7565604" "7565604" "subst" "0" "03236" "DSP_000580" "g.7565604G>T" "0" "" "" "" "" "Germline" "?" "" "0" "" "" "g.7565371G>T" "" "pathogenic" "" "0000471081" "0" "90" "6" "7579790" "7579790" "subst" "0" "03236" "DSP_000581" "g.7579790A>T" "" "" "" "" "found in a patient with SCD" "Germline" "?" "" "0" "" "" "g.7579557A>T" "" "likely pathogenic" "" "0000501308" "0" "70" "6" "7581062" "7581062" "dup" "0" "02401" "DSP_000582" "g.7581062dup" "" "" "" "4639dupC" "" "Germline" "yes" "" "0" "" "" "g.7580829dup" "" "pathogenic (dominant)" "ACMG" "0000529499" "0" "10" "6" "7542149" "7542149" "dup" "0" "02330" "DSP_000001" "g.7542149dup" "" "" "" "DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541916dup" "" "benign" "" "0000529500" "0" "10" "6" "7542149" "7542149" "dup" "0" "01943" "DSP_000001" "g.7542149dup" "" "" "" "DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541916dup" "" "benign" "" "0000529502" "0" "10" "6" "7542150" "7542151" "ins" "0" "02325" "DSP_000583" "g.7542150_7542151insA" "" "" "" "DSP(NM_004415.4):c.2_3insA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541917_7541918insA" "" "benign" "" "0000529503" "0" "10" "6" "7542160" "7542160" "subst" "0.00517577" "01943" "DSP_000584" "g.7542160C>G" "" "" "" "DSP(NM_004415.2):c.12C>G (p.N4K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541927C>G" "" "benign" "" "0000529504" "0" "30" "6" "7542229" "7542229" "subst" "3.84652E-5" "02327" "DSP_000343" "g.7542229C>A" "" "" "" "DSP(NM_004415.2):c.81C>A (p.R27=), DSP(NM_004415.4):c.81C>A (p.R27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541996C>A" "" "likely benign" "" "0000529505" "0" "30" "6" "7542232" "7542232" "subst" "0" "02327" "DSP_000585" "g.7542232C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541999C>T" "" "likely benign" "" "0000529506" "0" "10" "6" "7542236" "7542236" "subst" "0.00160304" "02330" "DSP_000002" "g.7542236G>A" "" "" "" "DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542003G>A" "" "benign" "" "0000529507" "0" "30" "6" "7542236" "7542236" "subst" "0.00160304" "01943" "DSP_000002" "g.7542236G>A" "" "" "" "DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542003G>A" "" "likely benign" "" "0000529508" "0" "30" "6" "7542236" "7542236" "subst" "0.00160304" "02325" "DSP_000002" "g.7542236G>A" "" "" "" "DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542003G>A" "" "likely benign" "" "0000529509" "0" "10" "6" "7542236" "7542236" "subst" "0.00160304" "02326" "DSP_000002" "g.7542236G>A" "" "" "" "DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542003G>A" "" "benign" "" "0000529510" "0" "50" "6" "7542241" "7542241" "subst" "5.0595E-6" "02327" "DSP_000586" "g.7542241C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542008C>T" "" "VUS" "" "0000529511" "0" "30" "6" "7542252" "7542252" "subst" "1.08226E-5" "02327" "DSP_000587" "g.7542252G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542019G>C" "" "likely benign" "" "0000529512" "0" "10" "6" "7542274" "7542274" "subst" "0.0545796" "02327" "DSP_000003" "g.7542274T>C" "" "" "" "DSP(NM_004415.2):c.126T>C (p.Y42=), DSP(NM_004415.4):c.126T>C (p.Y42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542041T>C" "" "benign" "" "0000529513" "0" "50" "6" "7542283" "7542283" "subst" "0" "02327" "DSP_000588" "g.7542283C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542050C>T" "" "VUS" "" "0000529514" "0" "50" "6" "7542285" "7542285" "subst" "0" "02330" "DSP_000092" "g.7542285G>A" "" "" "" "DSP(NM_004415.2):c.137G>A (p.G46D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542052G>A" "" "VUS" "" "0000529515" "0" "30" "6" "7542285" "7542285" "subst" "0" "01943" "DSP_000092" "g.7542285G>A" "" "" "" "DSP(NM_004415.2):c.137G>A (p.G46D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542052G>A" "" "likely benign" "" "0000529517" "0" "30" "6" "7542287" "7542287" "subst" "0" "02327" "DSP_000589" "g.7542287G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542054G>C" "" "likely benign" "" "0000529518" "0" "50" "6" "7556022" "7556022" "subst" "0.000142246" "02330" "DSP_000094" "g.7556022G>A" "" "" "" "DSP(NM_004415.2):c.242G>A (p.C81Y), DSP(NM_004415.4):c.242G>A (p.C81Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555789G>A" "" "VUS" "" "0000529519" "0" "50" "6" "7556022" "7556022" "subst" "0.000142246" "01943" "DSP_000094" "g.7556022G>A" "" "" "" "DSP(NM_004415.2):c.242G>A (p.C81Y), DSP(NM_004415.4):c.242G>A (p.C81Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555789G>A" "" "VUS" "" "0000529520" "0" "30" "6" "7556022" "7556022" "subst" "0.000142246" "02325" "DSP_000094" "g.7556022G>A" "" "" "" "DSP(NM_004415.2):c.242G>A (p.C81Y), DSP(NM_004415.4):c.242G>A (p.C81Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555789G>A" "" "likely benign" "" "0000529521" "0" "30" "6" "7556022" "7556022" "subst" "0.000142246" "02326" "DSP_000094" "g.7556022G>A" "" "" "" "DSP(NM_004415.2):c.242G>A (p.C81Y), DSP(NM_004415.4):c.242G>A (p.C81Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555789G>A" "" "likely benign" "" "0000529522" "0" "10" "6" "7556049" "7556049" "subst" "0.000700771" "02330" "DSP_000005" "g.7556049A>G" "" "" "" "DSP(NM_004415.2):c.269A>G (p.Q90R), DSP(NM_004415.4):c.269A>G (p.Q90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555816A>G" "" "benign" "" "0000529523" "0" "50" "6" "7556049" "7556049" "subst" "0.000700771" "01943" "DSP_000005" "g.7556049A>G" "" "" "" "DSP(NM_004415.2):c.269A>G (p.Q90R), DSP(NM_004415.4):c.269A>G (p.Q90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555816A>G" "" "VUS" "" "0000529524" "0" "30" "6" "7556049" "7556049" "subst" "0.000700771" "02325" "DSP_000005" "g.7556049A>G" "" "" "" "DSP(NM_004415.2):c.269A>G (p.Q90R), DSP(NM_004415.4):c.269A>G (p.Q90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555816A>G" "" "likely benign" "" "0000529525" "0" "50" "6" "7556049" "7556049" "subst" "0.000700771" "02326" "DSP_000005" "g.7556049A>G" "" "" "" "DSP(NM_004415.2):c.269A>G (p.Q90R), DSP(NM_004415.4):c.269A>G (p.Q90R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555816A>G" "" "VUS" "" "0000529526" "0" "50" "6" "7556058" "7556058" "subst" "0.000277823" "01804" "DSP_000137" "g.7556058G>A" "" "" "" "DSP(NM_004415.2):c.273+5G>A (p.?), DSP(NM_004415.4):c.273+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555825G>A" "" "VUS" "" "0000529527" "0" "10" "6" "7556063" "7556063" "subst" "0.0235482" "02327" "DSP_000006" "g.7556063C>T" "" "" "" "DSP(NM_004415.2):c.273+10C>T, DSP(NM_004415.4):c.273+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7555830C>T" "" "benign" "" "0000529528" "0" "10" "6" "7558318" "7558318" "subst" "0.196709" "02327" "DSP_000007" "g.7558318T>C" "" "" "" "DSP(NM_004415.2):c.274-31T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7558085T>C" "" "benign" "" "0000529529" "0" "10" "6" "7558318" "7558318" "subst" "0.196709" "02326" "DSP_000007" "g.7558318T>C" "" "" "" "DSP(NM_004415.2):c.274-31T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7558085T>C" "" "benign" "" "0000529530" "0" "30" "6" "7558419" "7558419" "subst" "6.09187E-5" "02327" "DSP_000008" "g.7558419A>G" "" "" "" "DSP(NM_004415.2):c.344A>G (p.N115S), DSP(NM_004415.4):c.344A>G (p.N115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7558186A>G" "" "likely benign" "" "0000529531" "0" "30" "6" "7558477" "7558477" "subst" "4.06279E-6" "02325" "DSP_000590" "g.7558477C>T" "" "" "" "DSP(NM_004415.4):c.402C>T (p.P134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7558244C>T" "" "likely benign" "" "0000529532" "0" "10" "6" "7559443" "7559444" "ins" "0.00788963" "02330" "DSP_000167" "g.7559443_7559444insC" "" "" "" "DSP(NM_004415.2):c.423-16_423-15insC, DSP(NM_004415.4):c.423-15delTinsCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559210_7559211insC" "" "benign" "" "0000529533" "0" "10" "6" "7559443" "7559444" "ins" "0.00788963" "01943" "DSP_000167" "g.7559443_7559444insC" "" "" "" "DSP(NM_004415.2):c.423-16_423-15insC, DSP(NM_004415.4):c.423-15delTinsCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559210_7559211insC" "" "benign" "" "0000529534" "0" "10" "6" "7559443" "7559444" "ins" "0.00788963" "02327" "DSP_000167" "g.7559443_7559444insC" "" "" "" "DSP(NM_004415.2):c.423-16_423-15insC, DSP(NM_004415.4):c.423-15delTinsCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559210_7559211insC" "" "benign" "" "0000529535" "0" "10" "6" "7559443" "7559444" "ins" "0.00788963" "02326" "DSP_000167" "g.7559443_7559444insC" "" "" "" "DSP(NM_004415.2):c.423-16_423-15insC, DSP(NM_004415.4):c.423-15delTinsCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559210_7559211insC" "" "benign" "" "0000529536" "0" "10" "6" "7559450" "7559450" "dup" "0" "02330" "DSP_000363" "g.7559450dup" "" "" "" "DSP(NM_004415.2):c.423-9dupT, DSP(NM_004415.4):c.423-8delCinsTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559217dup" "" "benign" "" "0000529537" "0" "10" "6" "7559558" "7559558" "subst" "0.00030887" "02330" "DSP_000368" "g.7559558T>C" "" "" "" "DSP(NM_004415.2):c.522T>C (p.C174=), DSP(NM_004415.4):c.522T>C (p.C174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559325T>C" "" "benign" "" "0000529538" "0" "10" "6" "7559597" "7559597" "subst" "3.25288E-5" "02330" "DSP_000591" "g.7559597C>T" "" "" "" "DSP(NM_004415.2):c.561C>T (p.V187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559364C>T" "" "benign" "" "0000529539" "0" "30" "6" "7559597" "7559597" "subst" "3.25288E-5" "02327" "DSP_000591" "g.7559597C>T" "" "" "" "DSP(NM_004415.2):c.561C>T (p.V187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559364C>T" "" "likely benign" "" "0000529540" "0" "90" "6" "7562894" "7562895" "ins" "0" "01943" "DSP_000592" "g.7562894_7562895insT" "" "" "" "DSP(NM_004415.2):c.607_608insT (p.D203Vfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7562661_7562662insT" "" "pathogenic" "" "0000529541" "0" "50" "6" "7562928" "7562928" "subst" "0" "02327" "DSP_000593" "g.7562928T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7562695T>C" "" "VUS" "" "0000529542" "0" "50" "6" "7562930" "7562930" "subst" "7.31143E-5" "02327" "DSP_000594" "g.7562930G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7562697G>A" "" "VUS" "" "0000529543" "0" "50" "6" "7562952" "7562952" "subst" "0" "02327" "DSP_000173" "g.7562952G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7562719G>T" "" "VUS" "" "0000529544" "0" "50" "6" "7562982" "7562982" "subst" "4.06177E-6" "02327" "DSP_000595" "g.7562982G>A" "" "" "" "DSP(NM_004415.2):c.695G>A (p.R232H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7562749G>A" "" "VUS" "" "0000529545" "0" "50" "6" "7563982" "7563982" "subst" "2.84349E-5" "01943" "DSP_000596" "g.7563982C>T" "" "" "" "DSP(NM_004415.2):c.740C>T (p.A247V), DSP(NM_004415.4):c.740C>T (p.A247V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7563749C>T" "" "VUS" "" "0000529546" "0" "10" "6" "7563983" "7563983" "subst" "0.000792026" "02330" "DSP_000597" "g.7563983T>A" "" "" "" "DSP(NM_004415.2):c.741T>A (p.A247=), DSP(NM_004415.4):c.741T>A (p.(Ala247Ala), p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7563750T>A" "" "benign" "" "0000529547" "0" "10" "6" "7563983" "7563983" "subst" "0.000792026" "01943" "DSP_000597" "g.7563983T>A" "" "" "" "DSP(NM_004415.2):c.741T>A (p.A247=), DSP(NM_004415.4):c.741T>A (p.(Ala247Ala), p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7563750T>A" "" "benign" "" "0000529548" "0" "30" "6" "7563983" "7563983" "subst" "0.000792026" "02325" "DSP_000597" "g.7563983T>A" "" "" "" "DSP(NM_004415.2):c.741T>A (p.A247=), DSP(NM_004415.4):c.741T>A (p.(Ala247Ala), p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7563750T>A" "" "likely benign" "" "0000529549" "0" "10" "6" "7563983" "7563983" "subst" "0.000792026" "02326" "DSP_000597" "g.7563983T>A" "" "" "" "DSP(NM_004415.2):c.741T>A (p.A247=), DSP(NM_004415.4):c.741T>A (p.(Ala247Ala), p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7563750T>A" "" "benign" "" "0000529550" "0" "10" "6" "7565648" "7565648" "subst" "0" "02330" "DSP_000598" "g.7565648C>T" "" "" "" "DSP(NM_004415.2):c.834C>T (p.A278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565415C>T" "" "benign" "" "0000529551" "0" "50" "6" "7565671" "7565671" "subst" "0" "01943" "DSP_000599" "g.7565671T>A" "" "" "" "DSP(NM_004415.2):c.857T>A (p.I286N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565438T>A" "" "VUS" "" "0000529552" "0" "90" "6" "7565686" "7565687" "dup" "0" "02330" "DSP_000600" "g.7565686_7565687dup" "" "" "" "DSP(NM_004415.2):c.872_873dupAG (p.E292Rfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565453_7565454dup" "" "pathogenic" "" "0000529553" "0" "50" "6" "7565703" "7565703" "subst" "6.50095E-5" "02327" "DSP_000601" "g.7565703G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565470G>A" "" "VUS" "" "0000529554" "0" "10" "6" "7565727" "7565727" "subst" "0.0297216" "01804" "DSP_000017" "g.7565727A>T" "" "" "" "DSP(NM_004415.2):c.913A>T (p.I305F), DSP(NM_004415.4):c.913A>T (p.(Ile305Phe), p.I305F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565494A>T" "" "benign" "" "0000529555" "0" "10" "6" "7565727" "7565727" "subst" "0.0297216" "02327" "DSP_000017" "g.7565727A>T" "" "" "" "DSP(NM_004415.2):c.913A>T (p.I305F), DSP(NM_004415.4):c.913A>T (p.(Ile305Phe), p.I305F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565494A>T" "" "benign" "" "0000529556" "0" "50" "6" "7565730" "7565730" "subst" "5.69092E-5" "02325" "DSP_000602" "g.7565730G>A" "" "" "" "DSP(NM_004415.4):c.916G>A (p.A306T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565497G>A" "" "VUS" "" "0000529557" "0" "90" "6" "7565754" "7565754" "subst" "0" "02330" "DSP_000018" "g.7565754G>A" "" "" "" "DSP(NM_004415.2):c.939+1G>A, DSP(NM_004415.4):c.939+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565521G>A" "" "pathogenic" "" "0000529558" "0" "90" "6" "7565754" "7565754" "subst" "0" "02325" "DSP_000018" "g.7565754G>A" "" "" "" "DSP(NM_004415.2):c.939+1G>A, DSP(NM_004415.4):c.939+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565521G>A" "" "pathogenic" "" "0000529559" "0" "10" "6" "7565770" "7565770" "subst" "0.00030109" "02330" "DSP_000381" "g.7565770C>T" "" "" "" "DSP(NM_004415.2):c.939+17C>T, DSP(NM_004415.4):c.939+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565537C>T" "" "benign" "" "0000529560" "0" "90" "6" "7566609" "7566609" "subst" "0" "02325" "DSP_000603" "g.7566609G>C" "" "" "" "DSP(NM_004415.4):c.940-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7566376G>C" "" "pathogenic" "" "0000529562" "0" "50" "6" "7566614" "7566614" "subst" "4.07727E-6" "02327" "DSP_000384" "g.7566614G>A" "" "" "" "DSP(NM_004415.2):c.944G>A (p.R315H), DSP(NM_004415.4):c.944G>A (p.R315H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7566381G>A" "" "VUS" "" "0000529563" "0" "30" "6" "7566651" "7566651" "subst" "4.0663E-6" "01943" "DSP_000604" "g.7566651T>C" "" "" "" "DSP(NM_004415.2):c.981T>C (p.N327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7566418T>C" "" "likely benign" "" "0000529564" "0" "30" "6" "7567569" "7567569" "subst" "0" "02327" "DSP_000605" "g.7567569G>A" "" "" "" "DSP(NM_004415.2):c.1045-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7567336G>A" "" "likely benign" "" "0000529565" "0" "50" "6" "7567590" "7567590" "subst" "0" "02330" "DSP_000606" "g.7567590T>C" "" "" "" "DSP(NM_004415.2):c.1048T>C (p.Y350H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7567357T>C" "" "VUS" "" "0000529566" "0" "70" "6" "7567590" "7567590" "subst" "0" "02326" "DSP_000606" "g.7567590T>C" "" "" "" "DSP(NM_004415.2):c.1048T>C (p.Y350H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7567357T>C" "" "likely pathogenic" "" "0000529567" "0" "90" "6" "7568019" "7568019" "dup" "0" "02325" "DSP_000607" "g.7568019dup" "" "" "" "DSP(NM_004415.4):c.1141-1_1141insT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7567786dup" "" "pathogenic" "" "0000529568" "0" "50" "6" "7568036" "7568036" "subst" "0" "02327" "DSP_000608" "g.7568036C>T" "" "" "" "DSP(NM_004415.4):c.1163C>T (p.T388I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7567803C>T" "" "VUS" "" "0000529570" "0" "10" "6" "7568145" "7568145" "subst" "0.000517704" "02327" "DSP_000155" "g.7568145G>T" "" "" "" "DSP(NM_004415.2):c.1266+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7567912G>T" "" "benign" "" "0000529571" "0" "50" "6" "7568701" "7568701" "subst" "1.6254E-5" "02327" "DSP_000609" "g.7568701G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7568468G>A" "" "VUS" "" "0000529572" "0" "30" "6" "7568747" "7568747" "subst" "0.000215393" "02327" "DSP_000393" "g.7568747G>A" "" "" "" "DSP(NM_004415.2):c.1344G>A (p.L448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7568514G>A" "" "likely benign" "" "0000529573" "0" "30" "6" "7568771" "7568771" "subst" "0" "02326" "DSP_000610" "g.7568771A>G" "" "" "" "DSP(NM_004415.2):c.1368A>G (p.R456=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7568538A>G" "" "likely benign" "" "0000529574" "0" "30" "6" "7568831" "7568831" "subst" "0" "02326" "DSP_000611" "g.7568831T>C" "" "" "" "DSP(NM_004415.2):c.1419+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7568598T>C" "" "likely benign" "" "0000529575" "0" "30" "6" "7568840" "7568840" "subst" "2.85803E-5" "02327" "DSP_000395" "g.7568840A>C" "" "" "" "DSP(NM_004415.2):c.1419+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7568607A>C" "" "likely benign" "" "0000529577" "0" "10" "6" "7569480" "7569480" "subst" "0.0133859" "02330" "DSP_000025" "g.7569480A>T" "" "" "" "DSP(NM_004415.2):c.1481A>T (p.Y494F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7569247A>T" "" "benign" "" "0000529578" "0" "10" "6" "7569480" "7569480" "subst" "0.0133859" "01943" "DSP_000025" "g.7569480A>T" "" "" "" "DSP(NM_004415.2):c.1481A>T (p.Y494F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7569247A>T" "" "benign" "" "0000529579" "0" "30" "6" "7569480" "7569480" "subst" "0.0133859" "02326" "DSP_000025" "g.7569480A>T" "" "" "" "DSP(NM_004415.2):c.1481A>T (p.Y494F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7569247A>T" "" "likely benign" "" "0000529580" "0" "10" "6" "7569487" "7569487" "subst" "0.00105597" "02327" "DSP_000026" "g.7569487G>A" "" "" "" "DSP(NM_004415.2):c.1488G>A (p.T496=), DSP(NM_004415.4):c.1488G>A (p.T496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7569254G>A" "" "benign" "" "0000529581" "0" "50" "6" "7569500" "7569500" "subst" "3.2491E-5" "02330" "DSP_000612" "g.7569500G>A" "" "" "" "DSP(NM_004415.2):c.1501G>A (p.V501I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7569267G>A" "" "VUS" "" "0000529582" "0" "50" "6" "7569507" "7569507" "subst" "0" "02327" "DSP_000613" "g.7569507T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7569274T>C" "" "VUS" "" "0000529583" "0" "30" "6" "7570666" "7570666" "subst" "0" "01943" "DSP_000614" "g.7570666T>G" "" "" "" "DSP(NM_004415.2):c.1575-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7570433T>G" "" "likely benign" "" "0000529584" "0" "50" "6" "7570766" "7570766" "subst" "8.13048E-6" "02330" "DSP_000615" "g.7570766A>G" "" "" "" "DSP(NM_004415.2):c.1671A>G (p.I557M), DSP(NM_004415.4):c.1671A>G (p.I557M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7570533A>G" "" "VUS" "" "0000529585" "0" "50" "6" "7570766" "7570766" "subst" "8.13048E-6" "02325" "DSP_000615" "g.7570766A>G" "" "" "" "DSP(NM_004415.2):c.1671A>G (p.I557M), DSP(NM_004415.4):c.1671A>G (p.I557M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7570533A>G" "" "VUS" "" "0000529586" "0" "70" "6" "7570798" "7570798" "subst" "0" "01943" "DSP_000616" "g.7570798T>C" "" "" "" "DSP(NM_004415.2):c.1701+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7570565T>C" "" "likely pathogenic" "" "0000529587" "0" "10" "6" "7571598" "7571598" "subst" "0.00133008" "02330" "DSP_000617" "g.7571598C>T" "" "" "" "DSP(NM_004415.2):c.1702-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571365C>T" "" "benign" "" "0000529588" "0" "10" "6" "7571598" "7571598" "subst" "0.00133008" "01943" "DSP_000617" "g.7571598C>T" "" "" "" "DSP(NM_004415.2):c.1702-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571365C>T" "" "benign" "" "0000529589" "0" "30" "6" "7571692" "7571692" "subst" "0.000536498" "01804" "DSP_000032" "g.7571692A>G" "" "" "" "DSP(NM_001008844.1):c.1778A>G (p.(Asn593Ser)), DSP(NM_004415.2):c.1778A>G (p.N593S), DSP(NM_004415.4):c.1778A>G (p.N593S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571459A>G" "" "likely benign" "" "0000529591" "0" "10" "6" "7571824" "7571824" "subst" "0.00593436" "02327" "DSP_000034" "g.7571824T>C" "" "" "" "DSP(NM_001008844.1):c.1903+7T>C (p.(=)), DSP(NM_004415.2):c.1903+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571591T>C" "" "benign" "" "0000529592" "0" "30" "6" "7572058" "7572058" "subst" "7.032E-5" "02326" "DSP_000107" "g.7572058C>G" "" "" "" "DSP(NM_004415.2):c.1904-17C>G, DSP(NM_004415.4):c.1904-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571825C>G" "" "likely benign" "" "0000529593" "0" "10" "6" "7572091" "7572091" "subst" "0.000413169" "02330" "DSP_000565" "g.7572091C>T" "" "" "" "DSP(NM_004415.2):c.1920C>T (p.I640=), DSP(NM_004415.4):c.1920C>T (p.I640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571858C>T" "" "benign" "" "0000529594" "0" "50" "6" "7572120" "7572120" "subst" "2.84919E-5" "02330" "DSP_000618" "g.7572120A>G" "" "" "" "DSP(NM_004415.2):c.1949A>G (p.N650S), DSP(NM_004415.4):c.1949A>G (p.N650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571887A>G" "" "VUS" "" "0000529595" "0" "30" "6" "7572120" "7572120" "subst" "2.84919E-5" "02327" "DSP_000618" "g.7572120A>G" "" "" "" "DSP(NM_004415.2):c.1949A>G (p.N650S), DSP(NM_004415.4):c.1949A>G (p.N650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571887A>G" "" "likely benign" "" "0000529596" "0" "30" "6" "7572244" "7572244" "subst" "0" "02327" "DSP_000619" "g.7572244C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7572011C>T" "" "likely benign" "" "0000529597" "0" "10" "6" "7572292" "7572292" "subst" "0.000138332" "02330" "DSP_000620" "g.7572292C>T" "" "" "" "DSP(NM_004415.2):c.2121C>T (p.N707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7572059C>T" "" "benign" "" "0000529598" "0" "30" "6" "7572292" "7572292" "subst" "0.000138332" "02326" "DSP_000620" "g.7572292C>T" "" "" "" "DSP(NM_004415.2):c.2121C>T (p.N707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7572059C>T" "" "likely benign" "" "0000529599" "0" "50" "6" "7574349" "7574349" "subst" "4.06336E-6" "02327" "DSP_000621" "g.7574349G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574116G>A" "" "VUS" "" "0000529601" "0" "10" "6" "7574852" "7574852" "subst" "0.0512191" "02327" "DSP_000041" "g.7574852T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574619T>C" "" "benign" "" "0000529602" "0" "10" "6" "7574938" "7574938" "subst" "0.00130829" "02327" "DSP_000194" "g.7574938C>T" "" "" "" "DSP(NM_004415.2):c.2346C>T (p.D782=), DSP(NM_004415.4):c.2346C>T (p.(Asp782=), p.D782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574705C>T" "" "benign" "" "0000529603" "0" "50" "6" "7575003" "7575003" "subst" "0" "02327" "DSP_000623" "g.7575003T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574770T>C" "" "VUS" "" "0000529604" "0" "30" "6" "7575014" "7575014" "subst" "0.000296492" "02330" "DSP_000196" "g.7575014C>T" "" "" "" "DSP(NM_004415.2):c.2422C>T (p.R808C), DSP(NM_004415.4):c.2422C>T (p.R808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574781C>T" "" "likely benign" "" "0000529605" "0" "30" "6" "7575014" "7575014" "subst" "0.000296492" "02326" "DSP_000196" "g.7575014C>T" "" "" "" "DSP(NM_004415.2):c.2422C>T (p.R808C), DSP(NM_004415.4):c.2422C>T (p.R808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574781C>T" "" "likely benign" "" "0000529606" "0" "30" "6" "7575508" "7575508" "subst" "0" "02327" "DSP_000624" "g.7575508T>G" "" "" "" "DSP(NM_004415.2):c.2437-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7575275T>G" "" "likely benign" "" "0000529607" "0" "30" "6" "7575508" "7575508" "subst" "0" "02326" "DSP_000624" "g.7575508T>G" "" "" "" "DSP(NM_004415.2):c.2437-20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7575275T>G" "" "likely benign" "" "0000529610" "0" "30" "6" "7575660" "7575660" "subst" "4.06118E-5" "02327" "DSP_000627" "g.7575660G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7575427G>A" "" "likely benign" "" "0000529611" "0" "10" "6" "7575687" "7575687" "subst" "0.000491462" "02330" "DSP_000199" "g.7575687C>T" "" "" "" "DSP(NM_004415.2):c.2596C>T (p.R866C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7575454C>T" "" "benign" "" "0000529612" "0" "30" "6" "7575687" "7575687" "subst" "0.000491462" "01943" "DSP_000199" "g.7575687C>T" "" "" "" "DSP(NM_004415.2):c.2596C>T (p.R866C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7575454C>T" "" "likely benign" "" "0000529613" "0" "10" "6" "7575739" "7575739" "subst" "0.00147104" "02330" "DSP_000415" "g.7575739C>T" "" "" "" "DSP(NM_004415.2):c.2630+18C>T, DSP(NM_004415.4):c.2630+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7575506C>T" "" "benign" "" "0000529614" "0" "30" "6" "7576522" "7576522" "subst" "2.84613E-5" "01943" "DSP_000628" "g.7576522C>T" "" "" "" "DSP(NM_004415.2):c.2631-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576289C>T" "" "likely benign" "" "0000529615" "0" "70" "6" "7576525" "7576525" "subst" "0" "02325" "DSP_000629" "g.7576525A>T" "" "" "" "DSP(NM_004415.4):c.2631-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576292A>T" "" "likely pathogenic" "" "0000529616" "0" "10" "6" "7576527" "7576527" "subst" "0.774109" "02327" "DSP_000042" "g.7576527G>A" "" "" "" "DSP(NM_004415.2):c.2631G>A (p.R877=), DSP(NM_004415.4):c.2631G>A (p.R877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576294G>A" "" "benign" "" "0000529617" "0" "30" "6" "7576562" "7576562" "subst" "6.50348E-5" "01943" "DSP_000630" "g.7576562G>A" "" "" "" "DSP(NM_004415.2):c.2666G>A (p.R889K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576329G>A" "" "likely benign" "" "0000529618" "0" "10" "6" "7576569" "7576569" "subst" "0.00162566" "02327" "DSP_000202" "g.7576569T>C" "" "" "" "DSP(NM_004415.2):c.2673T>C (p.Y891=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576336T>C" "" "benign" "" "0000529619" "0" "10" "6" "7576619" "7576619" "subst" "0.00116217" "02330" "DSP_000113" "g.7576619G>A" "" "" "" "DSP(NM_004415.2):c.2723G>A (p.R908H), DSP(NM_004415.4):c.2723G>A (p.R908H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576386G>A" "" "benign" "" "0000529620" "0" "30" "6" "7576619" "7576619" "subst" "0.00116217" "01943" "DSP_000113" "g.7576619G>A" "" "" "" "DSP(NM_004415.2):c.2723G>A (p.R908H), DSP(NM_004415.4):c.2723G>A (p.R908H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576386G>A" "" "likely benign" "" "0000529621" "0" "30" "6" "7576619" "7576619" "subst" "0.00116217" "02325" "DSP_000113" "g.7576619G>A" "" "" "" "DSP(NM_004415.2):c.2723G>A (p.R908H), DSP(NM_004415.4):c.2723G>A (p.R908H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576386G>A" "" "likely benign" "" "0000529622" "0" "30" "6" "7576619" "7576619" "subst" "0.00116217" "02326" "DSP_000113" "g.7576619G>A" "" "" "" "DSP(NM_004415.2):c.2723G>A (p.R908H), DSP(NM_004415.4):c.2723G>A (p.R908H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576386G>A" "" "likely benign" "" "0000529623" "0" "10" "6" "7576669" "7576669" "subst" "0.000398115" "02330" "DSP_000631" "g.7576669C>T" "" "" "" "DSP(NM_004415.2):c.2773C>T (p.R925W), DSP(NM_004415.4):c.2773C>T (p.R925W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576436C>T" "" "benign" "" "0000529624" "0" "30" "6" "7576670" "7576670" "subst" "0.000247808" "01943" "DSP_000632" "g.7576670G>A" "" "" "" "DSP(NM_004415.2):c.2774G>A (p.R925Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576437G>A" "" "likely benign" "" "0000529626" "0" "10" "6" "7577188" "7577188" "dup" "0" "02330" "DSP_000633" "g.7577188dup" "" "" "" "DSP(NM_004415.2):c.2794-4dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576955dup" "" "benign" "" "0000529627" "0" "30" "6" "7577192" "7577192" "subst" "1.22086E-5" "01943" "DSP_000634" "g.7577192A>G" "" "" "" "DSP(NM_004415.2):c.2794A>G (p.N932D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576959A>G" "" "likely benign" "" "0000529628" "0" "30" "6" "7577207" "7577207" "subst" "4.06775E-6" "02326" "DSP_000635" "g.7577207A>G" "" "" "" "DSP(NM_004415.2):c.2809A>G (p.I937V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576974A>G" "" "likely benign" "" "0000529629" "0" "90" "6" "7577219" "7577219" "subst" "0" "01804" "DSP_000206" "g.7577219C>T" "" "" "" "DSP(NM_004415.2):c.2821C>T (p.R941*, p.(Arg941Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576986C>T" "" "pathogenic" "" "0000529630" "0" "90" "6" "7577219" "7577219" "subst" "0" "02326" "DSP_000206" "g.7577219C>T" "" "" "" "DSP(NM_004415.2):c.2821C>T (p.R941*, p.(Arg941Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576986C>T" "" "pathogenic" "" "0000529631" "0" "30" "6" "7577233" "7577233" "subst" "0" "02327" "DSP_000636" "g.7577233G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7577000G>A" "" "likely benign" "" "0000529632" "0" "10" "6" "7577260" "7577260" "subst" "0.239441" "02327" "DSP_000043" "g.7577260C>T" "" "" "" "DSP(NM_004415.2):c.2862C>T (p.C954=), DSP(NM_004415.4):c.2862C>T (p.C954=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7577027C>T" "" "benign" "" "0000529633" "0" "30" "6" "7578035" "7578035" "subst" "0" "02327" "DSP_000637" "g.7578035A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7577802A>G" "" "likely benign" "" "0000529634" "0" "50" "6" "7578067" "7578067" "subst" "1.21835E-5" "02327" "DSP_000638" "g.7578067T>A" "" "" "" "DSP(NM_004415.2):c.2933T>A (p.I978K), DSP(NM_004415.4):c.2933T>A (p.I978K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7577834T>A" "" "VUS" "" "0000529635" "0" "50" "6" "7578075" "7578075" "subst" "1.62454E-5" "02330" "DSP_000639" "g.7578075A>G" "" "" "" "DSP(NM_004415.2):c.2941A>G (p.K981E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7577842A>G" "" "VUS" "" "0000529636" "0" "30" "6" "7578075" "7578075" "subst" "1.62454E-5" "02326" "DSP_000639" "g.7578075A>G" "" "" "" "DSP(NM_004415.2):c.2941A>G (p.K981E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7577842A>G" "" "likely benign" "" "0000529637" "0" "10" "6" "7578691" "7578691" "subst" "0.000239886" "02330" "DSP_000640" "g.7578691T>A" "" "" "" "DSP(NM_004415.2):c.2986-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7578458T>A" "" "benign" "" "0000529638" "0" "30" "6" "7578691" "7578691" "subst" "0.000239886" "01943" "DSP_000640" "g.7578691T>A" "" "" "" "DSP(NM_004415.2):c.2986-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7578458T>A" "" "likely benign" "" "0000529639" "0" "10" "6" "7578819" "7578819" "subst" "0.775394" "02327" "DSP_000046" "g.7578819T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7578586T>G" "" "benign" "" "0000529640" "0" "10" "6" "7578823" "7578823" "subst" "0.780674" "02327" "DSP_000047" "g.7578823G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7578590G>A" "" "benign" "" "0000529641" "0" "50" "6" "7579505" "7579505" "subst" "4.07458E-6" "02330" "DSP_000641" "g.7579505C>T" "" "" "" "DSP(NM_004415.2):c.3085-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579272C>T" "" "VUS" "" "0000529642" "0" "70" "6" "7579556" "7579556" "subst" "0" "02325" "DSP_000642" "g.7579556C>T" "" "" "" "DSP(NM_004415.4):c.3133C>T (p.R1045*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579323C>T" "" "likely pathogenic" "" "0000529643" "0" "50" "6" "7579569" "7579569" "subst" "4.0663E-6" "02327" "DSP_000643" "g.7579569C>G" "" "" "" "DSP(NM_004415.2):c.3146C>G (p.S1049W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579336C>G" "" "VUS" "" "0000529644" "0" "30" "6" "7579569" "7579569" "subst" "7.31933E-5" "02326" "DSP_000644" "g.7579569C>T" "" "" "" "DSP(NM_004415.2):c.3146C>T (p.S1049L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579336C>T" "" "likely benign" "" "0000529645" "0" "50" "6" "7579695" "7579695" "subst" "4.06818E-6" "02330" "DSP_000645" "g.7579695A>G" "" "" "" "DSP(NM_004415.2):c.3272A>G (p.K1091R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579462A>G" "" "VUS" "" "0000529646" "0" "30" "6" "7579711" "7579711" "subst" "0" "02326" "DSP_000646" "g.7579711T>C" "" "" "" "DSP(NM_004415.2):c.3288T>C (p.N1096=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579478T>C" "" "likely benign" "" "0000529647" "0" "50" "6" "7579717" "7579717" "subst" "1.62884E-5" "02330" "DSP_000647" "g.7579717C>G" "" "" "" "DSP(NM_004415.2):c.3294C>G (p.D1098E), DSP(NM_004415.4):c.3294C>G (p.D1098E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579484C>G" "" "VUS" "" "0000529648" "0" "30" "6" "7579717" "7579717" "subst" "1.62884E-5" "02325" "DSP_000647" "g.7579717C>G" "" "" "" "DSP(NM_004415.2):c.3294C>G (p.D1098E), DSP(NM_004415.4):c.3294C>G (p.D1098E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579484C>G" "" "likely benign" "" "0000529649" "0" "70" "6" "7579806" "7579807" "del" "0" "02327" "DSP_000648" "g.7579806_7579807del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579573_7579574del" "" "likely pathogenic" "" "0000529651" "0" "70" "6" "7579888" "7579888" "subst" "0" "02326" "DSP_000649" "g.7579888G>A" "" "" "" "DSP(NM_004415.2):c.3465G>A (p.W1155*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579655G>A" "" "likely pathogenic" "" "0000529652" "0" "30" "6" "7579930" "7579930" "subst" "0.000138711" "02327" "DSP_000650" "g.7579930C>T" "" "" "" "DSP(NM_004415.2):c.3507C>T (p.Y1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579697C>T" "" "likely benign" "" "0000529653" "0" "10" "6" "7579933" "7579933" "subst" "0.00230411" "02327" "DSP_000055" "g.7579933G>A" "" "" "" "DSP(NM_004415.2):c.3510G>A (p.E1170=), DSP(NM_004415.4):c.3510G>A (p.E1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579700G>A" "" "benign" "" "0000529654" "0" "50" "6" "7580032" "7580033" "delins" "0" "02327" "DSP_000651" "g.7580032_7580033delinsAG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579799_7579800delinsAG" "" "VUS" "" "0000529655" "0" "50" "6" "7580067" "7580067" "subst" "8.13114E-6" "02327" "DSP_000652" "g.7580067A>G" "" "" "" "DSP(NM_004415.2):c.3644A>G (p.N1215S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579834A>G" "" "VUS" "" "0000529656" "0" "30" "6" "7580073" "7580073" "subst" "0.000361924" "01943" "DSP_000215" "g.7580073C>T" "" "" "" "DSP(NM_004415.2):c.3650C>T (p.T1217M), DSP(NM_004415.4):c.3650C>T (p.T1217M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579840C>T" "" "likely benign" "" "0000529657" "0" "30" "6" "7580073" "7580073" "subst" "0.000361924" "02326" "DSP_000215" "g.7580073C>T" "" "" "" "DSP(NM_004415.2):c.3650C>T (p.T1217M), DSP(NM_004415.4):c.3650C>T (p.T1217M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579840C>T" "" "likely benign" "" "0000529658" "0" "30" "6" "7580285" "7580285" "subst" "0.000276695" "01943" "DSP_000217" "g.7580285A>C" "" "" "" "DSP(NM_004415.2):c.3862A>C (p.K1288Q), DSP(NM_004415.4):c.3862A>C (p.(Lys1288Gln), p.K1288Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580052A>C" "" "likely benign" "" "0000529659" "0" "50" "6" "7580286" "7580286" "subst" "1.22063E-5" "02330" "DSP_000218" "g.7580286A>G" "" "" "" "DSP(NM_004415.2):c.3863A>G (p.K1288R), DSP(NM_004415.4):c.3863A>G (p.K1288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580053A>G" "" "VUS" "" "0000529660" "0" "50" "6" "7580286" "7580286" "subst" "1.22063E-5" "01943" "DSP_000218" "g.7580286A>G" "" "" "" "DSP(NM_004415.2):c.3863A>G (p.K1288R), DSP(NM_004415.4):c.3863A>G (p.K1288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580053A>G" "" "VUS" "" "0000529661" "0" "30" "6" "7580300" "7580300" "subst" "2.84838E-5" "02326" "DSP_000653" "g.7580300A>G" "" "" "" "DSP(NM_004415.2):c.3877A>G (p.I1293V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580067A>G" "" "likely benign" "" "0000529663" "0" "30" "6" "7580346" "7580346" "subst" "0.00120575" "01804" "DSP_000058" "g.7580346G>A" "" "" "" "DSP(NM_004415.2):c.3923G>A (p.R1308Q, p.(Arg1308Gln)), DSP(NM_004415.4):c.3923G>A (p.R1308Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580113G>A" "" "likely benign" "" "0000529664" "0" "10" "6" "7580346" "7580346" "subst" "0.00120575" "02327" "DSP_000058" "g.7580346G>A" "" "" "" "DSP(NM_004415.2):c.3923G>A (p.R1308Q, p.(Arg1308Gln)), DSP(NM_004415.4):c.3923G>A (p.R1308Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580113G>A" "" "benign" "" "0000529665" "0" "10" "6" "7580386" "7580386" "subst" "0.0129344" "02330" "DSP_000116" "g.7580386G>A" "" "" "" "DSP(NM_004415.2):c.3963G>A (p.Q1321=), DSP(NM_004415.4):c.3963G>A (p.(Gln1321=), p.Q1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580153G>A" "" "benign" "" "0000529666" "0" "10" "6" "7580386" "7580386" "subst" "0.0129344" "01943" "DSP_000116" "g.7580386G>A" "" "" "" "DSP(NM_004415.2):c.3963G>A (p.Q1321=), DSP(NM_004415.4):c.3963G>A (p.(Gln1321=), p.Q1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580153G>A" "" "benign" "" "0000529667" "0" "10" "6" "7580386" "7580386" "subst" "0.0129344" "02327" "DSP_000116" "g.7580386G>A" "" "" "" "DSP(NM_004415.2):c.3963G>A (p.Q1321=), DSP(NM_004415.4):c.3963G>A (p.(Gln1321=), p.Q1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580153G>A" "" "benign" "" "0000529668" "0" "30" "6" "7580386" "7580386" "subst" "0.0129344" "02325" "DSP_000116" "g.7580386G>A" "" "" "" "DSP(NM_004415.2):c.3963G>A (p.Q1321=), DSP(NM_004415.4):c.3963G>A (p.(Gln1321=), p.Q1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580153G>A" "" "likely benign" "" "0000529669" "0" "10" "6" "7580386" "7580386" "subst" "0.0129344" "02326" "DSP_000116" "g.7580386G>A" "" "" "" "DSP(NM_004415.2):c.3963G>A (p.Q1321=), DSP(NM_004415.4):c.3963G>A (p.(Gln1321=), p.Q1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580153G>A" "" "benign" "" "0000529670" "0" "50" "6" "7580405" "7580405" "subst" "2.44264E-5" "02325" "DSP_000654" "g.7580405G>A" "" "" "" "DSP(NM_004415.4):c.3982G>A (p.E1328K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580172G>A" "" "VUS" "" "0000529671" "0" "10" "6" "7580564" "7580564" "subst" "0.000670704" "01943" "DSP_000463" "g.7580564A>T" "" "" "" "DSP(NM_004415.2):c.4141A>T (p.T1381S), DSP(NM_004415.4):c.4141A>T (p.T1381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580331A>T" "" "benign" "" "0000529672" "0" "50" "6" "7580622" "7580622" "subst" "1.21898E-5" "02326" "DSP_000655" "g.7580622G>A" "" "" "" "DSP(NM_004415.2):c.4199G>A (p.R1400Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580389G>A" "" "VUS" "" "0000529673" "0" "30" "6" "7580668" "7580668" "subst" "0" "02327" "DSP_000468" "g.7580668T>G" "" "" "" "DSP(NM_004415.2):c.4245T>G (p.T1415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580435T>G" "" "likely benign" "" "0000529674" "0" "30" "6" "7580678" "7580678" "subst" "0" "01943" "DSP_000656" "g.7580678A>T" "" "" "" "DSP(NM_004415.2):c.4255A>T (p.T1419S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580445A>T" "" "likely benign" "" "0000529675" "0" "10" "6" "7580795" "7580795" "subst" "0.00174373" "02330" "DSP_000060" "g.7580795C>G" "" "" "" "DSP(NM_004415.2):c.4372C>G (p.R1458G), DSP(NM_004415.4):c.4372C>G (p.R1458G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580562C>G" "" "benign" "" "0000529676" "0" "30" "6" "7580795" "7580795" "subst" "0.00174373" "01943" "DSP_000060" "g.7580795C>G" "" "" "" "DSP(NM_004415.2):c.4372C>G (p.R1458G), DSP(NM_004415.4):c.4372C>G (p.R1458G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580562C>G" "" "likely benign" "" "0000529677" "0" "30" "6" "7580795" "7580795" "subst" "0.00174373" "02325" "DSP_000060" "g.7580795C>G" "" "" "" "DSP(NM_004415.2):c.4372C>G (p.R1458G), DSP(NM_004415.4):c.4372C>G (p.R1458G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580562C>G" "" "likely benign" "" "0000529678" "0" "30" "6" "7580795" "7580795" "subst" "0.00174373" "02326" "DSP_000060" "g.7580795C>G" "" "" "" "DSP(NM_004415.2):c.4372C>G (p.R1458G), DSP(NM_004415.4):c.4372C>G (p.R1458G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580562C>G" "" "likely benign" "" "0000529679" "0" "30" "6" "7580810" "7580810" "subst" "2.03358E-5" "02326" "DSP_000473" "g.7580810G>A" "" "" "" "DSP(NM_004415.2):c.4387G>A (p.V1463I), DSP(NM_004415.4):c.4387G>A (p.V1463I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580577G>A" "" "likely benign" "" "0000529680" "0" "10" "6" "7580878" "7580878" "subst" "0.00138513" "02330" "DSP_000477" "g.7580878G>T" "" "" "" "DSP(NM_004415.2):c.4455G>T (p.R1485S), DSP(NM_004415.4):c.4455G>T (p.R1485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580645G>T" "" "benign" "" "0000529681" "0" "10" "6" "7580878" "7580878" "subst" "0.00138513" "02327" "DSP_000477" "g.7580878G>T" "" "" "" "DSP(NM_004415.2):c.4455G>T (p.R1485S), DSP(NM_004415.4):c.4455G>T (p.R1485S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580645G>T" "" "benign" "" "0000529682" "0" "10" "6" "7580912" "7580912" "subst" "0.000290721" "02330" "DSP_000227" "g.7580912C>T" "" "" "" "DSP(NM_004415.2):c.4489C>T (p.R1497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580679C>T" "" "benign" "" "0000529683" "0" "50" "6" "7580912" "7580912" "subst" "0.000290721" "01943" "DSP_000227" "g.7580912C>T" "" "" "" "DSP(NM_004415.2):c.4489C>T (p.R1497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580679C>T" "" "VUS" "" "0000529684" "0" "30" "6" "7580912" "7580912" "subst" "0.000290721" "02326" "DSP_000227" "g.7580912C>T" "" "" "" "DSP(NM_004415.2):c.4489C>T (p.R1497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580679C>T" "" "likely benign" "" "0000529685" "0" "30" "6" "7580915" "7580915" "subst" "4.09433E-6" "01943" "DSP_000657" "g.7580915A>G" "" "" "" "DSP(NM_004415.2):c.4492A>G (p.K1498E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580682A>G" "" "likely benign" "" "0000529686" "0" "10" "6" "7580958" "7580958" "subst" "0.117415" "02327" "DSP_000061" "g.7580958A>G" "" "" "" "DSP(NM_004415.2):c.4535A>G (p.Y1512C), DSP(NM_004415.4):c.4535A>G (p.Y1512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580725A>G" "" "benign" "" "0000529687" "0" "30" "6" "7581025" "7581025" "subst" "4.07924E-6" "02327" "DSP_000658" "g.7581025A>G" "" "" "" "DSP(NM_004415.2):c.4602A>G (p.E1534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580792A>G" "" "likely benign" "" "0000529689" "0" "50" "6" "7581102" "7581102" "subst" "4.07854E-6" "02327" "DSP_000659" "g.7581102A>G" "" "" "" "DSP(NM_004415.2):c.4679A>G (p.Q1560R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580869A>G" "" "VUS" "" "0000529690" "0" "50" "6" "7581119" "7581119" "subst" "3.26113E-5" "02327" "DSP_000660" "g.7581119C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580886C>G" "" "VUS" "" "0000529692" "0" "10" "6" "7581196" "7581196" "subst" "0.0139939" "02327" "DSP_000065" "g.7581196G>A" "" "" "" "DSP(NM_004415.2):c.4773G>A (p.R1591=), DSP(NM_004415.4):c.4773G>A (p.(Arg1591=), p.R1591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580963G>A" "" "benign" "" "0000529693" "0" "30" "6" "7581198" "7581198" "subst" "0.000224501" "02327" "DSP_000233" "g.7581198A>G" "" "" "" "DSP(NM_004415.2):c.4775A>G (p.K1592R), DSP(NM_004415.4):c.4775A>G (p.K1592R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580965A>G" "" "likely benign" "" "0000529694" "0" "50" "6" "7581206" "7581206" "subst" "0" "02326" "DSP_000661" "g.7581206G>C" "" "" "" "DSP(NM_004415.2):c.4783G>C (p.E1595Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580973G>C" "" "VUS" "" "0000529696" "0" "30" "6" "7581337" "7581337" "subst" "3.67242E-5" "01943" "DSP_000662" "g.7581337C>T" "" "" "" "DSP(NM_004415.2):c.4914C>T (p.D1638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581104C>T" "" "likely benign" "" "0000529697" "0" "50" "6" "7581338" "7581338" "subst" "4.08073E-5" "02330" "DSP_000235" "g.7581338G>A" "" "" "" "DSP(NM_004415.2):c.4915G>A (p.V1639M), DSP(NM_004415.4):c.4915G>A (p.V1639M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581105G>A" "" "VUS" "" "0000529698" "0" "30" "6" "7581338" "7581338" "subst" "4.08073E-5" "02325" "DSP_000235" "g.7581338G>A" "" "" "" "DSP(NM_004415.2):c.4915G>A (p.V1639M), DSP(NM_004415.4):c.4915G>A (p.V1639M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581105G>A" "" "likely benign" "" "0000529699" "0" "50" "6" "7581458" "7581458" "subst" "4.06693E-6" "01943" "DSP_000493" "g.7581458C>T" "" "" "" "DSP(NM_004415.2):c.5035C>T (p.H1679Y), DSP(NM_004415.4):c.5035C>T (p.H1679Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581225C>T" "" "VUS" "" "0000529700" "0" "50" "6" "7581458" "7581458" "subst" "4.06693E-6" "02327" "DSP_000493" "g.7581458C>T" "" "" "" "DSP(NM_004415.2):c.5035C>T (p.H1679Y), DSP(NM_004415.4):c.5035C>T (p.H1679Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581225C>T" "" "VUS" "" "0000529702" "0" "70" "6" "7581553" "7581553" "dup" "0" "02330" "DSP_000663" "g.7581553dup" "" "" "" "DSP(NM_004415.2):c.5130dupA (p.E1711Rfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581320dup" "" "likely pathogenic" "" "0000529703" "0" "50" "6" "7581597" "7581597" "subst" "0" "02330" "DSP_000664" "g.7581597G>A" "" "" "" "DSP(NM_004415.2):c.5174G>A (p.R1725Q), DSP(NM_004415.4):c.5174G>A (p.R1725Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581364G>A" "" "VUS" "" "0000529704" "0" "50" "6" "7581603" "7581603" "subst" "4.06303E-6" "01943" "DSP_000665" "g.7581603T>C" "" "" "" "DSP(NM_004415.2):c.5180T>C (p.L1727P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581370T>C" "" "VUS" "" "0000529705" "0" "10" "6" "7581636" "7581636" "subst" "0.172202" "02327" "DSP_000067" "g.7581636G>A" "" "" "" "DSP(NM_004415.2):c.5213G>A (p.R1738Q), DSP(NM_004415.4):c.5213G>A (p.R1738Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581403G>A" "" "benign" "" "0000529706" "0" "10" "6" "7581641" "7581641" "subst" "0.00141097" "02330" "DSP_000120" "g.7581641G>A" "" "" "" "DSP(NM_004415.2):c.5218G>A (p.E1740K, p.(Glu1740Lys)), DSP(NM_004415.4):c.5218G>A (p.E1740K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581408G>A" "" "benign" "" "0000529707" "0" "30" "6" "7581641" "7581641" "subst" "0.00141097" "01943" "DSP_000120" "g.7581641G>A" "" "" "" "DSP(NM_004415.2):c.5218G>A (p.E1740K, p.(Glu1740Lys)), DSP(NM_004415.4):c.5218G>A (p.E1740K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581408G>A" "" "likely benign" "" "0000529708" "0" "30" "6" "7581641" "7581641" "subst" "0.00141097" "02327" "DSP_000120" "g.7581641G>A" "" "" "" "DSP(NM_004415.2):c.5218G>A (p.E1740K, p.(Glu1740Lys)), DSP(NM_004415.4):c.5218G>A (p.E1740K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581408G>A" "" "likely benign" "" "0000529709" "0" "30" "6" "7581641" "7581641" "subst" "0.00141097" "02325" "DSP_000120" "g.7581641G>A" "" "" "" "DSP(NM_004415.2):c.5218G>A (p.E1740K, p.(Glu1740Lys)), DSP(NM_004415.4):c.5218G>A (p.E1740K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581408G>A" "" "likely benign" "" "0000529710" "0" "30" "6" "7581641" "7581641" "subst" "0.00141097" "02326" "DSP_000120" "g.7581641G>A" "" "" "" "DSP(NM_004415.2):c.5218G>A (p.E1740K, p.(Glu1740Lys)), DSP(NM_004415.4):c.5218G>A (p.E1740K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581408G>A" "" "likely benign" "" "0000529711" "0" "30" "6" "7581727" "7581727" "subst" "0.000524791" "02327" "DSP_000666" "g.7581727G>C" "" "" "" "DSP(NM_004415.2):c.5304G>C (p.G1768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581494G>C" "" "likely benign" "" "0000529712" "0" "10" "6" "7581739" "7581739" "subst" "0.000349707" "02330" "DSP_000241" "g.7581739T>C" "" "" "" "DSP(NM_004415.2):c.5316T>C (p.D1772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581506T>C" "" "benign" "" "0000529713" "0" "50" "6" "7581747" "7581747" "subst" "6.50994E-5" "02326" "DSP_000068" "g.7581747G>T" "" "" "" "DSP(NM_004415.2):c.5324G>T (p.R1775I), DSP(NM_004415.4):c.5324G>T (p.(Arg1775Ile), p.R1775I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581514G>T" "" "VUS" "" "0000529714" "0" "50" "6" "7581786" "7581786" "subst" "5.73535E-5" "02330" "DSP_000296" "g.7581786A>G" "" "" "" "DSP(NM_004415.2):c.5363A>G (p.Q1788R), DSP(NM_004415.4):c.5363A>G (p.Q1788R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581553A>G" "" "VUS" "" "0000529718" "0" "10" "6" "7582780" "7582780" "del" "0" "02326" "DSP_000667" "g.7582780del" "" "" "" "DSP(NM_004415.2):c.5380-95delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582547del" "" "benign" "" "0000529722" "0" "10" "6" "7582993" "7582993" "subst" "0.00945845" "02327" "DSP_000069" "g.7582993A>T" "" "" "" "DSP(NM_004415.2):c.5498A>T (p.E1833V), DSP(NM_004415.4):c.5498A>T (p.E1833V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582760A>T" "" "benign" "" "0000529723" "0" "30" "6" "7583018" "7583018" "subst" "4.46809E-5" "02327" "DSP_000668" "g.7583018A>C" "" "" "" "DSP(NM_004415.2):c.5523A>C (p.S1841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582785A>C" "" "likely benign" "" "0000529724" "0" "30" "6" "7583088" "7583088" "subst" "0.000434507" "02325" "DSP_000245" "g.7583088A>T" "" "" "" "DSP(NM_004415.2):c.5593A>T (p.N1865Y), DSP(NM_004415.4):c.5593A>T (p.N1865Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582855A>T" "" "likely benign" "" "0000529725" "0" "30" "6" "7583150" "7583150" "subst" "1.62553E-5" "02327" "DSP_000669" "g.7583150A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582917A>G" "" "likely benign" "" "0000529726" "0" "30" "6" "7583175" "7583175" "subst" "0" "01943" "DSP_000670" "g.7583175A>C" "" "" "" "DSP(NM_004415.2):c.5680A>C (p.S1894R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582942A>C" "" "likely benign" "" "0000529727" "0" "30" "6" "7583290" "7583290" "subst" "2.44497E-5" "01943" "DSP_000503" "g.7583290G>A" "" "" "" "DSP(NM_004415.2):c.5795G>A (p.R1932H), DSP(NM_004415.4):c.5795G>A (p.R1932H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583057G>A" "" "likely benign" "" "0000529729" "0" "50" "6" "7583554" "7583554" "subst" "8.12856E-6" "02330" "DSP_000507" "g.7583554G>C" "" "" "" "DSP(NM_004415.2):c.6059G>C (p.G2020A), DSP(NM_004415.4):c.6059G>C (p.G2020A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583321G>C" "" "VUS" "" "0000529730" "0" "50" "6" "7583554" "7583554" "subst" "8.12856E-6" "02327" "DSP_000507" "g.7583554G>C" "" "" "" "DSP(NM_004415.2):c.6059G>C (p.G2020A), DSP(NM_004415.4):c.6059G>C (p.G2020A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583321G>C" "" "VUS" "" "0000529731" "0" "50" "6" "7583568" "7583568" "subst" "0" "02330" "DSP_000671" "g.7583568C>T" "" "" "" "DSP(NM_004415.2):c.6073C>T (p.P2025S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583335C>T" "" "VUS" "" "0000529732" "0" "30" "6" "7583570" "7583570" "subst" "0" "01943" "DSP_000672" "g.7583570T>A" "" "" "" "DSP(NM_004415.2):c.6075T>A (p.P2025=), DSP(NM_004415.4):c.6075T>A (p.(Pro2025=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583337T>A" "" "likely benign" "" "0000529733" "0" "90" "6" "7583587" "7583587" "del" "0" "02330" "DSP_000673" "g.7583587del" "" "" "" "DSP(NM_004415.2):c.6092delT (p.L2031Wfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583354del" "" "pathogenic" "" "0000529734" "0" "50" "6" "7583632" "7583632" "subst" "4.0701E-6" "02327" "DSP_000674" "g.7583632T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583399T>G" "" "VUS" "" "0000529735" "0" "30" "6" "7583702" "7583702" "subst" "6.5179E-5" "02327" "DSP_000675" "g.7583702C>T" "" "" "" "DSP(NM_004415.2):c.6207C>T (p.V2069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583469C>T" "" "likely benign" "" "0000529737" "0" "50" "6" "7583718" "7583718" "subst" "2.03487E-5" "02327" "DSP_000676" "g.7583718C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583485C>T" "" "VUS" "" "0000529738" "0" "50" "6" "7583728" "7583728" "subst" "2.03325E-5" "02327" "DSP_000677" "g.7583728T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583495T>C" "" "VUS" "" "0000529739" "0" "50" "6" "7583863" "7583863" "subst" "1.62509E-5" "02327" "DSP_000678" "g.7583863G>A" "" "" "" "DSP(NM_004415.2):c.6368G>A (p.R2123H), DSP(NM_004415.4):c.6368G>A (p.R2123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583630G>A" "" "VUS" "" "0000529740" "0" "10" "6" "7583885" "7583885" "subst" "0.00959819" "02327" "DSP_000072" "g.7583885T>C" "" "" "" "DSP(NM_004415.2):c.6390T>C (p.A2130=), DSP(NM_004415.4):c.6390T>C (p.A2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583652T>C" "" "benign" "" "0000529742" "0" "30" "6" "7583918" "7583918" "subst" "0" "02327" "DSP_000679" "g.7583918C>A" "" "" "" "DSP(NM_004415.2):c.6423C>A (p.V2141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583685C>A" "" "likely benign" "" "0000529743" "0" "30" "6" "7583918" "7583918" "subst" "0" "02326" "DSP_000679" "g.7583918C>A" "" "" "" "DSP(NM_004415.2):c.6423C>A (p.V2141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583685C>A" "" "likely benign" "" "0000529744" "0" "50" "6" "7583946" "7583946" "subst" "6.90945E-5" "02330" "DSP_000680" "g.7583946C>T" "" "" "" "DSP(NM_004415.2):c.6451C>T (p.R2151W), DSP(NM_004415.4):c.6451C>T (p.R2151W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583713C>T" "" "VUS" "" "0000529745" "0" "70" "6" "7583973" "7583973" "subst" "8.12453E-6" "02327" "DSP_000301" "g.7583973C>T" "" "" "" "DSP(NM_004415.4):c.6478C>T (p.R2160*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583740C>T" "" "likely pathogenic" "" "0000529747" "0" "50" "6" "7584060" "7584060" "subst" "5.27902E-5" "02330" "DSP_000681" "g.7584060C>T" "" "" "" "DSP(NM_004415.2):c.6565C>T (p.R2189W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583827C>T" "" "VUS" "" "0000529748" "0" "10" "6" "7584150" "7584150" "subst" "0.000564706" "02330" "DSP_000254" "g.7584150G>A" "" "" "" "DSP(NM_004415.2):c.6655G>A (p.V2219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583917G>A" "" "benign" "" "0000529749" "0" "10" "6" "7584173" "7584173" "subst" "0.00125104" "02327" "DSP_000255" "g.7584173T>A" "" "" "" "DSP(NM_004415.2):c.6678T>A (p.G2226=), DSP(NM_004415.4):c.6678T>A (p.G2226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583940T>A" "" "benign" "" "0000529750" "0" "30" "6" "7584376" "7584376" "subst" "0.000795874" "02327" "DSP_000123" "g.7584376C>G" "" "" "" "DSP(NM_004415.2):c.6881C>G (p.A2294G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584143C>G" "" "likely benign" "" "0000529753" "0" "30" "6" "7584509" "7584509" "subst" "0" "01943" "DSP_000682" "g.7584509G>A" "" "" "" "DSP(NM_004415.2):c.7014G>A (p.G2338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584276G>A" "" "likely benign" "" "0000529754" "0" "50" "6" "7584573" "7584573" "subst" "0" "02326" "DSP_000683" "g.7584573G>A" "" "" "" "DSP(NM_004415.2):c.7078G>A (p.E2360K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584340G>A" "" "VUS" "" "0000529755" "0" "10" "6" "7584584" "7584584" "subst" "1.21835E-5" "02330" "DSP_000684" "g.7584584C>T" "" "" "" "DSP(NM_004415.2):c.7089C>T (p.H2363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584351C>T" "" "benign" "" "0000529756" "0" "10" "6" "7584617" "7584617" "subst" "0.289351" "02327" "DSP_000076" "g.7584617C>T" "" "" "" "DSP(NM_004415.2):c.7122C>T (p.T2374=), DSP(NM_004415.4):c.7122C>T (p.T2374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584384C>T" "" "benign" "" "0000529757" "0" "30" "6" "7584620" "7584620" "subst" "6.90417E-5" "02327" "DSP_000528" "g.7584620G>A" "" "" "" "DSP(NM_004415.2):c.7125G>A (p.G2375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584387G>A" "" "likely benign" "" "0000529758" "0" "50" "6" "7584691" "7584691" "subst" "0" "02327" "DSP_000531" "g.7584691A>G" "" "" "" "DSP(NM_004415.2):c.7196A>G (p.E2399G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584458A>G" "" "VUS" "" "0000529760" "0" "50" "6" "7584993" "7584993" "subst" "4.06072E-6" "02325" "DSP_000685" "g.7584993G>A" "" "" "" "DSP(NM_004415.4):c.7498G>A (p.E2500K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584760G>A" "" "VUS" "" "0000529762" "0" "50" "6" "7585081" "7585081" "subst" "0" "02327" "DSP_000687" "g.7585081A>G" "" "" "" "DSP(NM_004415.2):c.7586A>G (p.D2529G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584848A>G" "" "VUS" "" "0000529764" "0" "50" "6" "7585267" "7585267" "subst" "0" "02327" "DSP_000688" "g.7585267G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585034G>T" "" "VUS" "" "0000529765" "0" "70" "6" "7585268" "7585271" "del" "0" "02327" "DSP_000689" "g.7585268_7585271del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585035_7585038del" "" "likely pathogenic" "" "0000529766" "0" "30" "6" "7585289" "7585289" "subst" "8.12203E-6" "02327" "DSP_000690" "g.7585289C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585056C>T" "" "likely benign" "" "0000529767" "0" "10" "6" "7585343" "7585343" "subst" "4.4742E-5" "02330" "DSP_000691" "g.7585343G>A" "" "" "" "DSP(NM_004415.2):c.7848G>A (p.S2616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585110G>A" "" "benign" "" "0000529768" "0" "30" "6" "7585419" "7585419" "subst" "1.62787E-5" "02326" "DSP_000692" "g.7585419G>A" "" "" "" "DSP(NM_004415.2):c.7924G>A (p.V2642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585186G>A" "" "likely benign" "" "0000529769" "0" "30" "6" "7585489" "7585489" "subst" "4.47686E-5" "02327" "DSP_000538" "g.7585489C>T" "" "" "" "DSP(NM_004415.2):c.7994C>T (p.(Thr2665Met), p.T2665M), DSP(NM_004415.4):c.7994C>T (p.T2665M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585256C>T" "" "likely benign" "" "0000529770" "0" "50" "6" "7585489" "7585489" "subst" "4.47686E-5" "02325" "DSP_000538" "g.7585489C>T" "" "" "" "DSP(NM_004415.2):c.7994C>T (p.(Thr2665Met), p.T2665M), DSP(NM_004415.4):c.7994C>T (p.T2665M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585256C>T" "" "VUS" "" "0000529771" "0" "10" "6" "7585490" "7585490" "subst" "0.000663448" "02330" "DSP_000083" "g.7585490G>A" "" "" "" "DSP(NM_004415.2):c.7995G>A (p.T2665=), DSP(NM_004415.4):c.7995G>A (p.T2665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585257G>A" "" "benign" "" "0000529772" "0" "10" "6" "7585490" "7585490" "subst" "0.000663448" "01943" "DSP_000083" "g.7585490G>A" "" "" "" "DSP(NM_004415.2):c.7995G>A (p.T2665=), DSP(NM_004415.4):c.7995G>A (p.T2665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585257G>A" "" "benign" "" "0000529773" "0" "10" "6" "7585490" "7585490" "subst" "0.000663448" "02325" "DSP_000083" "g.7585490G>A" "" "" "" "DSP(NM_004415.2):c.7995G>A (p.T2665=), DSP(NM_004415.4):c.7995G>A (p.T2665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585257G>A" "" "benign" "" "0000529774" "0" "50" "6" "7585509" "7585509" "subst" "8.1363E-6" "02326" "DSP_000693" "g.7585509C>G" "" "" "" "DSP(NM_004415.2):c.8014C>G (p.Q2672E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585276C>G" "" "VUS" "" "0000529775" "0" "10" "6" "7585670" "7585670" "subst" "0.0462358" "02327" "DSP_000084" "g.7585670C>A" "" "" "" "DSP(NM_004415.2):c.8175C>A (p.R2725=), DSP(NM_004415.4):c.8175C>A (p.(Arg2725=), p.R2725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585437C>A" "" "benign" "" "0000529776" "0" "10" "6" "7585694" "7585694" "subst" "0.000154337" "02330" "DSP_000694" "g.7585694G>C" "" "" "" "DSP(NM_004415.2):c.8199G>C (p.T2733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585461G>C" "" "benign" "" "0000529777" "0" "50" "6" "7585725" "7585725" "subst" "0" "02326" "DSP_000542" "g.7585725A>G" "" "" "" "DSP(NM_004415.2):c.8230A>G (p.R2744G), DSP(NM_004415.4):c.8230A>G (p.R2744G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585492A>G" "" "VUS" "" "0000529778" "0" "50" "6" "7585750" "7585750" "subst" "2.03135E-5" "01943" "DSP_000545" "g.7585750G>A" "" "" "" "DSP(NM_004415.2):c.8255G>A (p.R2752Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585517G>A" "" "VUS" "" "0000529779" "0" "10" "6" "7585763" "7585763" "subst" "0.000995344" "02330" "DSP_000577" "g.7585763A>C" "" "" "" "DSP(NM_004415.2):c.8268A>C (p.I2756=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585530A>C" "" "benign" "" "0000529780" "0" "10" "6" "7585795" "7585795" "subst" "0.00162877" "02327" "DSP_000085" "g.7585795C>A" "" "" "" "DSP(NM_004415.2):c.8300C>A (p.T2767N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585562C>A" "" "benign" "" "0000529781" "0" "30" "6" "7585795" "7585795" "subst" "0" "01943" "DSP_000695" "g.7585795C>G" "" "" "" "DSP(NM_004415.2):c.8300C>G (p.T2767S), DSP(NM_004415.4):c.8300C>G (p.T2767S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585562C>G" "" "likely benign" "" "0000529782" "0" "50" "6" "7585795" "7585795" "subst" "0" "02326" "DSP_000695" "g.7585795C>G" "" "" "" "DSP(NM_004415.2):c.8300C>G (p.T2767S), DSP(NM_004415.4):c.8300C>G (p.T2767S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585562C>G" "" "VUS" "" "0000529783" "0" "30" "6" "7585796" "7585796" "subst" "0.000633641" "01943" "DSP_000547" "g.7585796C>G" "" "" "" "DSP(NM_004415.2):c.8301C>G (p.T2767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585563C>G" "" "likely benign" "" "0000529784" "0" "30" "6" "7585796" "7585796" "subst" "0.000633641" "02327" "DSP_000547" "g.7585796C>G" "" "" "" "DSP(NM_004415.2):c.8301C>G (p.T2767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585563C>G" "" "likely benign" "" "0000529785" "0" "30" "6" "7585805" "7585805" "subst" "8.12282E-6" "02327" "DSP_000696" "g.7585805T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585572T>C" "" "likely benign" "" "0000529786" "0" "50" "6" "7585882" "7585882" "subst" "0" "02330" "DSP_000697" "g.7585882A>T" "" "" "" "DSP(NM_004415.2):c.8387A>T (p.D2796V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585649A>T" "" "VUS" "" "0000529787" "0" "50" "6" "7585887" "7585887" "subst" "0" "02327" "DSP_000698" "g.7585887A>T" "" "" "" "DSP(NM_004415.4):c.8392A>T (p.T2798S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585654A>T" "" "VUS" "" "0000529788" "0" "30" "6" "7585889" "7585889" "subst" "1.62504E-5" "02327" "DSP_000699" "g.7585889T>A" "" "" "" "DSP(NM_004415.2):c.8394T>A (p.T2798=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585656T>A" "" "likely benign" "" "0000529789" "0" "30" "6" "7585889" "7585889" "subst" "1.62504E-5" "02326" "DSP_000699" "g.7585889T>A" "" "" "" "DSP(NM_004415.2):c.8394T>A (p.T2798=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585656T>A" "" "likely benign" "" "0000529790" "0" "50" "6" "7585953" "7585953" "subst" "0" "02327" "DSP_000700" "g.7585953T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585720T>C" "" "VUS" "" "0000529791" "0" "50" "6" "7585957" "7585957" "subst" "5.3304E-5" "02327" "DSP_000278" "g.7585957C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585724C>T" "" "VUS" "" "0000529792" "0" "10" "6" "7585967" "7585967" "subst" "0.713746" "02327" "DSP_000086" "g.7585967G>C" "" "" "" "DSP(NM_004415.2):c.8472G>C (p.G2824=), DSP(NM_004415.2):c.8472_8484delGTCCCGCTCCGGCinsCTCCCGCTCCGGC (p.G2824_G2828=), DSP(NM_004415.4):c.8472G>C ...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585734G>C" "" "benign" "" "0000529793" "0" "10" "6" "7585976" "7585976" "subst" "0.00160782" "02330" "DSP_000701" "g.7585976C>T" "" "" "" "DSP(NM_004415.2):c.8481C>T (p.S2827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585743C>T" "" "benign" "" "0000529794" "0" "10" "6" "7585976" "7585976" "subst" "0.00160782" "01943" "DSP_000701" "g.7585976C>T" "" "" "" "DSP(NM_004415.2):c.8481C>T (p.S2827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585743C>T" "" "benign" "" "0000529795" "0" "30" "6" "7585977" "7585977" "subst" "3.29682E-5" "02327" "DSP_000702" "g.7585977G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585744G>A" "" "likely benign" "" "0000529797" "0" "10" "6" "7586100" "7586100" "subst" "0.00210772" "02326" "DSP_000088" "g.7586100A>G" "" "" "" "DSP(NM_004415.2):c.8605A>G (p.I2869V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585867A>G" "" "benign" "" "0000529798" "0" "10" "6" "7586120" "7586120" "subst" "0.00593214" "02330" "DSP_000090" "g.7586120T>A" "" "" "" "DSP(NM_004415.2):c.*9T>A, DSP(NM_004415.4):c.*9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585887T>A" "" "benign" "" "0000529799" "0" "50" "6" "7586120" "7586120" "subst" "0.00593214" "01943" "DSP_000090" "g.7586120T>A" "" "" "" "DSP(NM_004415.2):c.*9T>A, DSP(NM_004415.4):c.*9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585887T>A" "" "VUS" "" "0000529800" "0" "30" "6" "7586120" "7586120" "subst" "0.00593214" "02325" "DSP_000090" "g.7586120T>A" "" "" "" "DSP(NM_004415.2):c.*9T>A, DSP(NM_004415.4):c.*9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585887T>A" "" "likely benign" "" "0000529801" "0" "10" "6" "7586120" "7586120" "subst" "0.00593214" "02326" "DSP_000090" "g.7586120T>A" "" "" "" "DSP(NM_004415.2):c.*9T>A, DSP(NM_004415.4):c.*9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585887T>A" "" "benign" "" "0000610438" "0" "10" "6" "7542149" "7542149" "dup" "0" "02327" "DSP_000001" "g.7542149dup" "" "" "" "DSP(NM_004415.2):c.-1_1insA, DSP(NM_004415.4):c.1dupA (p.M1?), DSP(NM_004415.4):c.2delTinsAT (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541916dup" "" "benign" "" "0000610439" "0" "90" "6" "7542188" "7542189" "del" "0" "01943" "DSP_000704" "g.7542188_7542189del" "" "" "" "DSP(NM_004415.2):c.40_41delCT (p.L14Gfs*78)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541955_7541956del" "" "pathogenic" "" "0000610440" "0" "50" "6" "7542192" "7542192" "subst" "0" "02327" "DSP_000705" "g.7542192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541959G>A" "" "VUS" "" "0000610441" "0" "50" "6" "7542201" "7542201" "subst" "0" "02330" "DSP_000342" "g.7542201T>C" "" "" "" "DSP(NM_004415.2):c.53T>C (p.I18T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541968T>C" "" "VUS" "" "0000610442" "0" "30" "6" "7542229" "7542229" "subst" "3.84652E-5" "01943" "DSP_000343" "g.7542229C>A" "" "" "" "DSP(NM_004415.2):c.81C>A (p.R27=), DSP(NM_004415.4):c.81C>A (p.R27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541996C>A" "" "likely benign" "" "0000610445" "0" "10" "6" "7542236" "7542236" "subst" "0.00160304" "02327" "DSP_000002" "g.7542236G>A" "" "" "" "DSP(NM_001008844.1):c.88G>A (p.(Val30Met)), DSP(NM_004415.2):c.88G>A (p.V30M), DSP(NM_004415.4):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542003G>A" "" "benign" "" "0000610446" "0" "10" "6" "7542253" "7542253" "subst" "0.0053285" "02327" "DSP_000091" "g.7542253G>A" "" "" "" "DSP(NM_004415.2):c.105G>A (p.G35=), DSP(NM_004415.4):c.105G>A (p.(Gly35=), p.G35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7542020G>A" "" "benign" "" "0000610448" "0" "30" "6" "7558383" "7558383" "subst" "4.06101E-6" "01943" "DSP_000708" "g.7558383G>A" "" "" "" "DSP(NM_004415.2):c.308G>A (p.R103Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7558150G>A" "" "likely benign" "" "0000610449" "0" "30" "6" "7559632" "7559632" "subst" "1.2244E-5" "01943" "DSP_000709" "g.7559632G>A" "" "" "" "DSP(NM_004415.2):c.596G>A (p.R199K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559399G>A" "" "likely benign" "" "0000610450" "0" "30" "6" "7563959" "7563959" "subst" "3.65586E-5" "02327" "DSP_000710" "g.7563959T>G" "" "" "" "DSP(NM_004415.2):c.727-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7563726T>G" "" "likely benign" "" "0000610451" "0" "10" "6" "7565753" "7565753" "subst" "7.32082E-5" "02330" "DSP_000380" "g.7565753C>T" "" "" "" "DSP(NM_004415.2):c.939C>T (p.S313=), DSP(NM_004415.4):c.939C>T (p.S313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565520C>T" "" "benign" "" "0000610452" "0" "70" "6" "7566647" "7566647" "subst" "0" "02325" "DSP_000712" "g.7566647T>C" "" "" "" "DSP(NM_004415.4):c.977T>C (p.L326P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7566414T>C" "" "likely pathogenic" "" "0000610453" "0" "30" "6" "7568705" "7568705" "subst" "0" "02327" "DSP_000714" "g.7568705G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7568472G>A" "" "likely benign" "" "0000610454" "0" "10" "6" "7569480" "7569480" "subst" "0.0133859" "02327" "DSP_000025" "g.7569480A>T" "" "" "" "DSP(NM_004415.2):c.1481A>T (p.Y494F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7569247A>T" "" "benign" "" "0000610455" "0" "30" "6" "7571738" "7571738" "subst" "8.12896E-6" "01943" "DSP_000716" "g.7571738A>G" "" "" "" "DSP(NM_004415.2):c.1824A>G (p.I608M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571505A>G" "" "likely benign" "" "0000610456" "0" "30" "6" "7571821" "7571821" "subst" "4.06967E-5" "02326" "DSP_000560" "g.7571821G>A" "" "" "" "DSP(NM_004415.2):c.1903+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571588G>A" "" "likely benign" "" "0000610457" "0" "30" "6" "7574435" "7574435" "subst" "0.00013408" "02327" "DSP_000038" "g.7574435A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574202A>G" "" "likely benign" "" "0000610458" "0" "50" "6" "7574925" "7574925" "subst" "0" "02327" "DSP_000717" "g.7574925T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574692T>C" "" "VUS" "" "0000610459" "0" "30" "6" "7575014" "7575014" "subst" "0.000296492" "02327" "DSP_000196" "g.7575014C>T" "" "" "" "DSP(NM_004415.2):c.2422C>T (p.R808C), DSP(NM_004415.4):c.2422C>T (p.R808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7574781C>T" "" "likely benign" "" "0000610460" "0" "30" "6" "7575521" "7575521" "subst" "0" "02327" "DSP_000625" "g.7575521C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7575288C>T" "" "likely benign" "" "0000610461" "0" "50" "6" "7576580" "7576580" "subst" "0.000162551" "02330" "DSP_000719" "g.7576580A>G" "" "" "" "DSP(NM_004415.2):c.2684A>G (p.Y895C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576347A>G" "" "VUS" "" "0000610462" "0" "10" "6" "7576619" "7576619" "subst" "0.00116217" "02327" "DSP_000113" "g.7576619G>A" "" "" "" "DSP(NM_004415.2):c.2723G>A (p.R908H), DSP(NM_004415.4):c.2723G>A (p.R908H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576386G>A" "" "benign" "" "0000610463" "0" "50" "6" "7576670" "7576670" "subst" "0.000247808" "02330" "DSP_000632" "g.7576670G>A" "" "" "" "DSP(NM_004415.2):c.2774G>A (p.R925Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576437G>A" "" "VUS" "" "0000610464" "0" "10" "6" "7577213" "7577213" "subst" "0.00276531" "02327" "DSP_000114" "g.7577213G>A" "" "" "" "DSP(NM_004415.2):c.2815G>A (p.G939S), DSP(NM_004415.4):c.2815G>A (p.G939S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576980G>A" "" "benign" "" "0000610466" "0" "30" "6" "7577261" "7577261" "subst" "4.09705E-5" "02327" "DSP_000208" "g.7577261G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7577028G>A" "" "likely benign" "" "0000610467" "0" "90" "6" "7578765" "7578766" "del" "0" "02326" "DSP_000723" "g.7578765_7578766del" "" "" "" "DSP(NM_004415.2):c.3054_3055delTG (p.S1018Rfs*35), DSP(NM_004415.4):c.3054_3055delTG (p.S1018Rfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7578532_7578533del" "" "pathogenic" "" "0000610468" "0" "30" "6" "7579570" "7579570" "subst" "2.43984E-5" "02327" "DSP_000438" "g.7579570G>A" "" "" "" "DSP(NM_004415.2):c.3147G>A (p.S1049=), DSP(NM_004415.4):c.3147G>A (p.S1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579337G>A" "" "likely benign" "" "0000610469" "0" "30" "6" "7579726" "7579726" "subst" "4.07495E-5" "02327" "DSP_000115" "g.7579726C>T" "" "" "" "DSP(NM_004415.2):c.3303C>T (p.Y1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579493C>T" "" "likely benign" "" "0000610470" "0" "90" "6" "7579760" "7579760" "subst" "0" "02327" "DSP_000053" "g.7579760C>T" "" "" "" "DSP(NM_004415.2):c.3337C>T (p.R1113*), DSP(NM_004415.4):c.3337C>T (p.R1113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579527C>T" "" "pathogenic" "" "0000610471" "0" "90" "6" "7579760" "7579760" "subst" "0" "02325" "DSP_000053" "g.7579760C>T" "" "" "" "DSP(NM_004415.2):c.3337C>T (p.R1113*), DSP(NM_004415.4):c.3337C>T (p.R1113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579527C>T" "" "pathogenic" "" "0000610473" "0" "30" "6" "7579879" "7579879" "subst" "4.07857E-6" "02327" "DSP_000725" "g.7579879C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579646C>A" "" "likely benign" "" "0000610474" "0" "90" "6" "7579911" "7579918" "del" "0" "02325" "DSP_000726" "g.7579911_7579918del" "" "" "" "DSP(NM_004415.4):c.3488_3495delCCATCAAG (p.A1163Gfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579678_7579685del" "" "pathogenic" "" "0000610475" "0" "50" "6" "7580129" "7580129" "subst" "6.10869E-5" "02327" "DSP_000293" "g.7580129A>G" "" "" "" "DSP(NM_004415.2):c.3706A>G (p.R1236G), DSP(NM_004415.4):c.3706A>G (p.(Arg1236Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579896A>G" "" "VUS" "" "0000610476" "0" "30" "6" "7580286" "7580286" "subst" "1.22063E-5" "02327" "DSP_000218" "g.7580286A>G" "" "" "" "DSP(NM_004415.2):c.3863A>G (p.K1288R), DSP(NM_004415.4):c.3863A>G (p.K1288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580053A>G" "" "likely benign" "" "0000610477" "0" "70" "6" "7580312" "7580312" "subst" "4.06951E-6" "02330" "DSP_000727" "g.7580312C>T" "" "" "" "DSP(NM_004415.2):c.3889C>T (p.Q1297*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580079C>T" "" "likely pathogenic" "" "0000610478" "0" "50" "6" "7580328" "7580328" "subst" "3.66393E-5" "02327" "DSP_000728" "g.7580328G>A" "" "" "" "DSP(NM_004415.4):c.3905G>A (p.R1302H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580095G>A" "" "VUS" "" "0000610479" "0" "10" "6" "7580488" "7580488" "subst" "0.00083133" "02327" "DSP_000117" "g.7580488T>C" "" "" "" "DSP(NM_004415.2):c.4065T>C (p.Y1355=), DSP(NM_004415.4):c.4065T>C (p.Y1355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580255T>C" "" "benign" "" "0000610480" "0" "10" "6" "7580795" "7580795" "subst" "0.00174373" "02327" "DSP_000060" "g.7580795C>G" "" "" "" "DSP(NM_004415.2):c.4372C>G (p.R1458G), DSP(NM_004415.4):c.4372C>G (p.R1458G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580562C>G" "" "benign" "" "0000610481" "0" "10" "6" "7580806" "7580806" "subst" "0.00194765" "02327" "DSP_000118" "g.7580806G>A" "" "" "" "DSP(NM_004415.2):c.4383G>A (p.E1461=), DSP(NM_004415.4):c.4383G>A (p.E1461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580573G>A" "" "benign" "" "0000610482" "0" "30" "6" "7580870" "7580870" "subst" "4.08103E-6" "02327" "DSP_000475" "g.7580870A>T" "" "" "" "DSP(NM_004415.2):c.4447A>T (p.I1483L), DSP(NM_004415.4):c.4447A>T (p.I1483L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580637A>T" "" "likely benign" "" "0000610483" "0" "50" "6" "7580915" "7580915" "subst" "4.09433E-6" "02330" "DSP_000657" "g.7580915A>G" "" "" "" "DSP(NM_004415.2):c.4492A>G (p.K1498E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580682A>G" "" "VUS" "" "0000610484" "0" "30" "6" "7581172" "7581172" "subst" "7.33963E-5" "02327" "DSP_000729" "g.7581172C>T" "" "" "" "DSP(NM_004415.2):c.4749C>T (p.T1583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580939C>T" "" "likely benign" "" "0000610485" "0" "30" "6" "7581384" "7581384" "subst" "2.8491E-5" "02327" "DSP_000066" "g.7581384T>C" "" "" "" "DSP(NM_004415.2):c.4961T>C (p.L1654P), DSP(NM_004415.4):c.4961T>C (p.L1654P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581151T>C" "" "likely benign" "" "0000610486" "0" "30" "6" "7581420" "7581420" "subst" "4.47296E-5" "02327" "DSP_000730" "g.7581420G>A" "" "" "" "DSP(NM_004415.2):c.4997G>A (p.R1666Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581187G>A" "" "likely benign" "" "0000610487" "0" "50" "6" "7581597" "7581597" "subst" "0" "02325" "DSP_000664" "g.7581597G>A" "" "" "" "DSP(NM_004415.2):c.5174G>A (p.R1725Q), DSP(NM_004415.4):c.5174G>A (p.R1725Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581364G>A" "" "VUS" "" "0000610488" "0" "50" "6" "7581688" "7581688" "subst" "0" "02327" "DSP_000731" "g.7581688G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581455G>C" "" "VUS" "" "0000610491" "0" "30" "6" "7582958" "7582958" "subst" "0" "01943" "DSP_000734" "g.7582958C>T" "" "" "" "DSP(NM_004415.2):c.5463C>T (p.V1821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582725C>T" "" "likely benign" "" "0000610492" "0" "50" "6" "7583088" "7583088" "subst" "0.000434507" "02327" "DSP_000245" "g.7583088A>T" "" "" "" "DSP(NM_004415.2):c.5593A>T (p.N1865Y), DSP(NM_004415.4):c.5593A>T (p.N1865Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582855A>T" "" "VUS" "" "0000610493" "0" "50" "6" "7583104" "7583104" "subst" "4.06134E-6" "02327" "DSP_000735" "g.7583104A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7582871A>G" "" "VUS" "" "0000610494" "0" "90" "6" "7583318" "7583318" "del" "0" "02325" "DSP_000737" "g.7583318del" "" "" "" "DSP(NM_004415.4):c.5823delA (p.K1941Nfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583085del" "" "pathogenic" "" "0000610495" "0" "30" "6" "7583339" "7583339" "subst" "0" "02327" "DSP_000738" "g.7583339G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583106G>C" "" "likely benign" "" "0000610497" "0" "50" "6" "7583479" "7583479" "subst" "0" "02326" "DSP_000740" "g.7583479T>G" "" "" "" "DSP(NM_004415.2):c.5984T>G (p.L1995W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583246T>G" "" "VUS" "" "0000610498" "0" "50" "6" "7583814" "7583814" "subst" "7.71661E-5" "02325" "DSP_000252" "g.7583814G>C" "" "" "" "DSP(NM_004415.4):c.6319G>C (p.V2107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583581G>C" "" "VUS" "" "0000610499" "0" "50" "6" "7583892" "7583892" "subst" "2.8449E-5" "02330" "DSP_000741" "g.7583892G>A" "" "" "" "DSP(NM_004415.2):c.6397G>A (p.G2133S), DSP(NM_004415.4):c.6397G>A (p.G2133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583659G>A" "" "VUS" "" "0000610500" "0" "50" "6" "7583937" "7583937" "subst" "1.62574E-5" "02327" "DSP_000742" "g.7583937G>A" "" "" "" "DSP(NM_004415.4):c.6442G>A (p.A2148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583704G>A" "" "VUS" "" "0000610501" "0" "30" "6" "7584045" "7584045" "subst" "3.65464E-5" "02327" "DSP_000743" "g.7584045G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583812G>A" "" "likely benign" "" "0000610502" "0" "50" "6" "7584412" "7584412" "subst" "0" "02330" "DSP_000744" "g.7584412G>A" "" "" "" "DSP(NM_004415.2):c.6917G>A (p.S2306N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584179G>A" "" "VUS" "" "0000610503" "0" "30" "6" "7584425" "7584425" "subst" "0" "02327" "DSP_000526" "g.7584425A>G" "" "" "" "DSP(NM_004415.2):c.6930A>G (p.L2310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584192A>G" "" "likely benign" "" "0000610504" "0" "70" "6" "7584561" "7584561" "subst" "0" "02327" "DSP_000745" "g.7584561A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584328A>T" "" "likely pathogenic" "" "0000610505" "0" "30" "6" "7584663" "7584663" "subst" "0" "02327" "DSP_000530" "g.7584663A>G" "" "" "" "DSP(NM_004415.2):c.7168A>G (p.I2390V, p.(Ile2390Val)), DSP(NM_004415.4):c.7168A>G (p.I2390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584430A>G" "" "likely benign" "" "0000610506" "0" "50" "6" "7585080" "7585080" "subst" "0" "02325" "DSP_000746" "g.7585080G>A" "" "" "" "DSP(NM_004415.4):c.7585G>A (p.D2529N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584847G>A" "" "VUS" "" "0000610507" "0" "50" "6" "7585081" "7585081" "subst" "0" "02330" "DSP_000687" "g.7585081A>G" "" "" "" "DSP(NM_004415.2):c.7586A>G (p.D2529G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584848A>G" "" "VUS" "" "0000610508" "0" "50" "6" "7585166" "7585166" "subst" "0" "02330" "DSP_000747" "g.7585166T>A" "" "" "" "DSP(NM_004415.2):c.7671T>A (p.F2557L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584933T>A" "" "VUS" "" "0000610509" "0" "50" "6" "7585240" "7585240" "subst" "1.21818E-5" "02330" "DSP_000336" "g.7585240T>G" "" "" "" "DSP(NM_004415.2):c.7745T>G (p.F2582C), DSP(NM_004415.4):c.7745T>G (p.(Phe2582Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585007T>G" "" "VUS" "" "0000610510" "0" "50" "6" "7585318" "7585318" "subst" "4.06273E-6" "02330" "DSP_000748" "g.7585318C>A" "" "" "" "DSP(NM_004415.2):c.7823C>A (p.S2608Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585085C>A" "" "VUS" "" "0000610511" "0" "50" "6" "7585525" "7585525" "subst" "8.13438E-6" "02327" "DSP_000749" "g.7585525A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585292A>G" "" "VUS" "" "0000610512" "0" "30" "6" "7585706" "7585706" "subst" "4.06144E-6" "02327" "DSP_000750" "g.7585706T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585473T>G" "" "likely benign" "" "0000610513" "0" "30" "6" "7585772" "7585772" "subst" "4.06276E-6" "02327" "DSP_000751" "g.7585772C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585539C>T" "" "likely benign" "" "0000610514" "0" "50" "6" "7586026" "7586026" "subst" "4.18803E-6" "02327" "DSP_000281" "g.7586026G>T" "" "" "" "DSP(NM_004415.2):c.8531G>T (p.G2844V), DSP(NM_004415.4):c.8531G>T (p.G2844V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585793G>T" "" "VUS" "" "0000610515" "0" "30" "6" "7586120" "7586120" "subst" "0.00593214" "02327" "DSP_000090" "g.7586120T>A" "" "" "" "DSP(NM_004415.2):c.*9T>A, DSP(NM_004415.4):c.*9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585887T>A" "" "likely benign" "" "0000621750" "0" "50" "6" "7542230" "7542230" "subst" "4.80899E-6" "01943" "DSP_000706" "g.7542230T>G" "" "" "" "DSP(NM_004415.2):c.82T>G (p.Y28D, p.(Tyr28Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7541997T>G" "" "VUS" "" "0000621751" "0" "50" "6" "7565608" "7565608" "subst" "8.12585E-6" "02330" "DSP_000711" "g.7565608G>A" "" "" "" "DSP(NM_004415.2):c.794G>A (p.R265K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7565375G>A" "" "VUS" "" "0000621752" "0" "50" "6" "7567630" "7567630" "subst" "0" "02326" "DSP_000713" "g.7567630A>C" "" "" "" "DSP(NM_004415.2):c.1088A>C (p.Q363P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7567397A>C" "" "VUS" "" "0000621753" "0" "50" "6" "7568799" "7568799" "subst" "0" "01943" "DSP_000715" "g.7568799C>T" "" "" "" "DSP(NM_004415.2):c.1396C>T (p.L466F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7568566C>T" "" "VUS" "" "0000621754" "0" "50" "6" "7576571" "7576571" "subst" "2.03211E-5" "02325" "DSP_000718" "g.7576571G>A" "" "" "" "DSP(NM_004415.4):c.2675G>A (p.R892H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576338G>A" "" "VUS" "" "0000621755" "0" "30" "6" "7576653" "7576653" "subst" "0" "01943" "DSP_000720" "g.7576653T>G" "" "" "" "DSP(NM_004415.2):c.2757T>G (p.D919E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576420T>G" "" "likely benign" "" "0000621756" "0" "50" "6" "7577220" "7577220" "subst" "2.03336E-5" "02330" "DSP_000721" "g.7577220G>A" "" "" "" "DSP(NM_004415.2):c.2822G>A (p.R941Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7576987G>A" "" "VUS" "" "0000621757" "0" "30" "6" "7580442" "7580442" "subst" "2.03568E-5" "01943" "DSP_000457" "g.7580442G>A" "" "" "" "DSP(NM_004415.2):c.4019G>A (p.R1340H), DSP(NM_004415.4):c.4019G>A (p.R1340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580209G>A" "" "likely benign" "" "0000621758" "0" "10" "6" "7581706" "7581706" "subst" "2.85023E-5" "02330" "DSP_000732" "g.7581706C>T" "" "" "" "DSP(NM_004415.2):c.5283C>T (p.N1761=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581473C>T" "" "benign" "" "0000621759" "0" "90" "6" "7581735" "7581735" "del" "0" "02325" "DSP_000733" "g.7581735del" "" "" "" "DSP(NM_004415.4):c.5312delA (p.N1771Mfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581502del" "" "pathogenic" "" "0000621760" "0" "50" "6" "7583290" "7583290" "subst" "2.44497E-5" "02330" "DSP_000503" "g.7583290G>A" "" "" "" "DSP(NM_004415.2):c.5795G>A (p.R1932H), DSP(NM_004415.4):c.5795G>A (p.R1932H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583057G>A" "" "VUS" "" "0000621761" "0" "30" "6" "7583293" "7583293" "subst" "0" "02326" "DSP_000736" "g.7583293C>T" "" "" "" "DSP(NM_004415.2):c.5798C>T (p.S1933F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583060C>T" "" "likely benign" "" "0000621762" "0" "50" "6" "7583568" "7583568" "subst" "0" "02326" "DSP_000671" "g.7583568C>T" "" "" "" "DSP(NM_004415.2):c.6073C>T (p.P2025S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583335C>T" "" "VUS" "" "0000621763" "0" "10" "6" "7583702" "7583702" "subst" "6.5179E-5" "02330" "DSP_000675" "g.7583702C>T" "" "" "" "DSP(NM_004415.2):c.6207C>T (p.V2069=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583469C>T" "" "benign" "" "0000621764" "0" "50" "6" "7585410" "7585410" "subst" "4.07103E-5" "01943" "DSP_000266" "g.7585410C>T" "" "" "" "DSP(NM_004415.2):c.7915C>T (p.R2639W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585177C>T" "" "VUS" "" "0000621765" "0" "10" "6" "7585411" "7585411" "subst" "0.000862848" "02325" "DSP_000082" "g.7585411G>A" "" "" "" "DSP(NM_004415.2):c.7916G>A (p.R2639Q), DSP(NM_004415.4):c.7916G>A (p.R2639Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585178G>A" "" "benign" "" "0000621766" "0" "50" "6" "7585995" "7585995" "subst" "3.314E-5" "01943" "DSP_000125" "g.7585995C>T" "" "" "" "DSP(NM_004415.2):c.8500C>T (p.R2834C), DSP(NM_004415.4):c.8500C>T (p.R2834C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585762C>T" "" "VUS" "" "0000621767" "0" "10" "6" "7586111" "7586111" "subst" "0" "02330" "DSP_000752" "g.7586111G>A" "" "" "" "DSP(NM_004415.2):c.8616G>A (p.*2872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585878G>A" "" "benign" "" "0000652040" "1" "50" "6" "7542236" "7542236" "subst" "0.00160304" "03575" "DSP_000002" "g.7542236G>A" "22/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 22 heterozygous, no homozygous; {DB:CLININrs121912998}" "Germline" "" "rs121912998" "0" "" "" "g.7542003G>A" "" "VUS" "" "0000652041" "1" "30" "6" "7542253" "7542253" "subst" "0.0053285" "03575" "DSP_000091" "g.7542253G>A" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs77445784}" "Germline" "" "rs77445784" "0" "" "" "g.7542020G>A" "" "likely benign" "" "0000652042" "1" "50" "6" "7556049" "7556049" "subst" "0.000700771" "03575" "DSP_000005" "g.7556049A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs188516326}" "Germline" "" "rs188516326" "0" "" "" "g.7555816A>G" "" "VUS" "" "0000652043" "1" "70" "6" "7570710" "7570710" "subst" "0" "03575" "DSP_000755" "g.7570710C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727504498}" "Germline" "" "rs727504498" "0" "" "" "g.7570477C>T" "" "likely pathogenic" "" "0000652044" "1" "50" "6" "7570791" "7570791" "subst" "0.000195282" "03575" "DSP_000029" "g.7570791G>A" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs148147581}" "Germline" "" "rs148147581" "0" "" "" "g.7570558G>A" "" "VUS" "" "0000652045" "1" "50" "6" "7571692" "7571692" "subst" "0.000536498" "03575" "DSP_000032" "g.7571692A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs34239595}" "Germline" "" "rs34239595" "0" "" "" "g.7571459A>G" "" "VUS" "" "0000652046" "1" "50" "6" "7576580" "7576580" "subst" "0.000162551" "03575" "DSP_000719" "g.7576580A>G" "4/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs367752002}" "Germline" "" "rs367752002" "0" "" "" "g.7576347A>G" "" "VUS" "" "0000652047" "1" "50" "6" "7576669" "7576669" "subst" "0.000398115" "03575" "DSP_000631" "g.7576669C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs145933612}" "Germline" "" "rs145933612" "0" "" "" "g.7576436C>T" "" "VUS" "" "0000652049" "1" "50" "6" "7580285" "7580285" "subst" "0.000276695" "03575" "DSP_000217" "g.7580285A>C" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs138907450}" "Germline" "" "rs138907450" "0" "" "" "g.7580052A>C" "" "VUS" "" "0000652050" "1" "30" "6" "7581032" "7581032" "subst" "0.00874909" "03575" "DSP_000063" "g.7581032C>T" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs28763967}" "Germline" "" "rs28763967" "0" "" "" "g.7580799C>T" "" "likely benign" "" "0000652052" "1" "50" "6" "7581590" "7581590" "subst" "0.000223525" "03575" "DSP_000756" "g.7581590G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs142803672}" "Germline" "" "rs142803672" "0" "" "" "g.7581357G>C" "" "VUS" "" "0000652053" "1" "50" "6" "7583050" "7583050" "subst" "0.000215234" "03575" "DSP_000758" "g.7583050G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs193922669}" "Germline" "" "rs193922669" "0" "" "" "g.7582817G>A" "" "VUS" "" "0000652054" "1" "50" "6" "7583703" "7583703" "subst" "0.004102" "03575" "DSP_000071" "g.7583703G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs41302885}" "Germline" "" "rs41302885" "0" "" "" "g.7583470G>A" "" "VUS" "" "0000652056" "1" "30" "6" "7583885" "7583885" "subst" "0.00959819" "03575" "DSP_000072" "g.7583885T>C" "60/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "60 heterozygous; {DB:CLININrs28763969}" "Germline" "" "rs28763969" "0" "" "" "g.7583652T>C" "" "likely benign" "" "0000652060" "1" "50" "6" "7585411" "7585411" "subst" "0.000862848" "03575" "DSP_000082" "g.7585411G>A" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 7 heterozygous, no homozygous; {DB:CLININrs116888866}" "Germline" "" "rs116888866" "0" "" "" "g.7585178G>A" "" "VUS" "" "0000652061" "1" "30" "6" "7585795" "7585795" "subst" "0.00162877" "03575" "DSP_000085" "g.7585795C>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs34884895}" "Germline" "" "rs34884895" "0" "" "" "g.7585562C>A" "" "likely benign" "" "0000653068" "1" "70" "6" "7565681" "7565681" "subst" "0" "03575" "DSP_000753" "g.7565681C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397516973}" "Germline" "" "rs397516973" "0" "" "" "g.7565448C>A" "" "likely pathogenic" "" "0000653209" "1" "70" "6" "7581801" "7581802" "dup" "0" "03575" "DSP_000757" "g.7581801_7581802dup" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727502994}" "Germline" "" "rs727502994" "0" "" "" "g.7581568_7581569dup" "" "likely pathogenic" "" "0000653330" "1" "50" "6" "7568694" "7568694" "dup" "0" "03575" "DSP_000754" "g.7568694dup" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs786204293}\r\nVariant 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" "" "rs786204293" "0" "" "" "g.7568462dup" "" "VUS" "" "0000655645" "0" "50" "6" "7559460" "7559460" "subst" "2.8571E-5" "02330" "DSP_000364" "g.7559460C>T" "" "" "" "DSP(NM_004415.2):c.424C>T (p.L142F), DSP(NM_004415.4):c.424C>T (p.L142F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559227C>T" "" "VUS" "" "0000655646" "0" "50" "6" "7559557" "7559557" "subst" "7.31535E-5" "02325" "DSP_000367" "g.7559557G>T" "" "" "" "DSP(NM_004415.2):c.521G>T (p.C174F), DSP(NM_004415.4):c.521G>T (p.C174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7559324G>T" "" "VUS" "" "0000655647" "0" "30" "6" "7570791" "7570791" "subst" "0.000195282" "01943" "DSP_000029" "g.7570791G>A" "" "" "" "DSP(NM_004415.2):c.1696G>A (p.A566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7570558G>A" "" "likely benign" "" "0000655648" "0" "90" "6" "7572207" "7572210" "del" "0" "02330" "DSP_000759" "g.7572207_7572210del" "" "" "" "DSP(NM_004415.2):c.2036_2039delTAGA (p.I679Sfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7571974_7571977del" "" "pathogenic" "" "0000655649" "0" "50" "6" "7580039" "7580039" "subst" "0" "02330" "DSP_000760" "g.7580039T>G" "" "" "" "DSP(NM_004415.2):c.3616T>G (p.L1206V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579806T>G" "" "VUS" "" "0000655650" "0" "30" "6" "7580938" "7580938" "subst" "3.27528E-5" "02326" "DSP_000761" "g.7580938G>A" "" "" "" "DSP(NM_004415.2):c.4515G>A (p.A1505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7580705G>A" "" "likely benign" "" "0000655651" "0" "10" "6" "7581262" "7581262" "subst" "0" "02330" "DSP_000762" "g.7581262C>T" "" "" "" "DSP(NM_004415.2):c.4839C>T (p.T1613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581029C>T" "" "benign" "" "0000655652" "0" "30" "6" "7581420" "7581420" "subst" "4.47296E-5" "01943" "DSP_000730" "g.7581420G>A" "" "" "" "DSP(NM_004415.2):c.4997G>A (p.R1666Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581187G>A" "" "likely benign" "" "0000655653" "0" "30" "6" "7581703" "7581703" "subst" "0" "01943" "DSP_000763" "g.7581703C>A" "" "" "" "DSP(NM_004415.2):c.5280C>A (p.N1760K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7581470C>A" "" "likely benign" "" "0000655654" "0" "90" "6" "7583679" "7583679" "del" "0" "02325" "DSP_000764" "g.7583679del" "" "" "" "DSP(NM_004415.4):c.6184delC (p.H2062Ifs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7583446del" "" "pathogenic" "" "0000655655" "0" "30" "6" "7584376" "7584376" "subst" "0.000795874" "01943" "DSP_000123" "g.7584376C>G" "" "" "" "DSP(NM_004415.2):c.6881C>G (p.A2294G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584143C>G" "" "likely benign" "" "0000655656" "0" "50" "6" "7584714" "7584714" "subst" "0" "02330" "DSP_000765" "g.7584714G>A" "" "" "" "DSP(NM_004415.2):c.7219G>A (p.D2407N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7584481G>A" "" "VUS" "" "0000655657" "0" "30" "6" "7585982" "7585993" "del" "0" "01943" "DSP_000551" "g.7585982_7585993del" "" "" "" "DSP(NM_004415.2):c.8487_8498delCCGCTCGGGATC (p.S2843_R2846del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585749_7585760del" "" "likely benign" "" "0000669934" "3" "30" "6" "7583885" "7583885" "subst" "0.00959819" "03575" "DSP_000072" "g.7583885T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs28763969}" "Germline" "" "rs28763969" "0" "" "" "g.7583652T>C" "" "likely benign" "" "0000670164" "0" "70" "6" "7581750" "7581753" "del" "0" "01164" "DSP_000770" "g.7581750_7581753del" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000670165" "0" "70" "6" "7585240" "7585241" "del" "0" "01164" "DSP_000769" "g.7585240_7585241del" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000670166" "0" "50" "6" "7585946" "7585946" "subst" "0" "01164" "DSP_000768" "g.7585946C>A" "" "" "" "" "this variant was detected as an incidental finding but not reported back to the individual. Reason: last exon, not in critical region, variant removes <10% of the protein" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000670167" "0" "50" "6" "7585989" "7585989" "subst" "0" "01164" "DSP_000767" "g.7585989G>T" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual. Reason: last exon, not in critical region, variant removes <10% of the protein" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000670168" "0" "70" "6" "7574915" "7574915" "subst" "0" "01164" "DSP_000766" "g.7574915C>T" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000677855" "0" "50" "6" "7558375" "7558375" "subst" "3.24884E-5" "02326" "DSP_000771" "g.7558375A>T" "" "" "" "DSP(NM_004415.2):c.300A>T (p.Q100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677856" "0" "90" "6" "7559484" "7559484" "subst" "0" "02325" "DSP_000772" "g.7559484C>T" "" "" "" "DSP(NM_004415.4):c.448C>T (p.R150*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677857" "0" "30" "6" "7559557" "7559557" "subst" "7.31535E-5" "02326" "DSP_000367" "g.7559557G>T" "" "" "" "DSP(NM_004415.2):c.521G>T (p.C174F), DSP(NM_004415.4):c.521G>T (p.C174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677858" "0" "50" "6" "7562883" "7562883" "subst" "4.06415E-6" "02327" "DSP_000773" "g.7562883A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677859" "0" "10" "6" "7566756" "7566756" "del" "0" "02327" "DSP_000774" "g.7566756del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677860" "0" "30" "6" "7568747" "7568747" "subst" "0.000215393" "02326" "DSP_000393" "g.7568747G>A" "" "" "" "DSP(NM_004415.2):c.1344G>A (p.L448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677861" "0" "30" "6" "7569544" "7569544" "subst" "8.9359E-5" "01943" "DSP_000775" "g.7569544G>A" "" "" "" "DSP(NM_004415.2):c.1545G>A (p.P515=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677862" "0" "30" "6" "7571824" "7571824" "subst" "0.00593436" "01804" "DSP_000034" "g.7571824T>C" "" "" "" "DSP(NM_001008844.1):c.1903+7T>C (p.(=)), DSP(NM_004415.2):c.1903+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677864" "0" "10" "6" "7575517" "7575517" "del" "0" "02327" "DSP_000411" "g.7575517del" "" "" "" "DSP(NM_004415.4):c.2437-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677865" "0" "50" "6" "7578067" "7578067" "subst" "1.21835E-5" "02326" "DSP_000638" "g.7578067T>A" "" "" "" "DSP(NM_004415.2):c.2933T>A (p.I978K), DSP(NM_004415.4):c.2933T>A (p.I978K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677866" "0" "90" "6" "7578765" "7578766" "del" "0" "02325" "DSP_000723" "g.7578765_7578766del" "" "" "" "DSP(NM_004415.2):c.3054_3055delTG (p.S1018Rfs*35), DSP(NM_004415.4):c.3054_3055delTG (p.S1018Rfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677867" "0" "50" "6" "7579569" "7579569" "subst" "4.0663E-6" "02326" "DSP_000643" "g.7579569C>G" "" "" "" "DSP(NM_004415.2):c.3146C>G (p.S1049W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677868" "0" "50" "6" "7579586" "7579586" "subst" "0" "01943" "DSP_000776" "g.7579586A>G" "" "" "" "DSP(NM_004415.2):c.3163A>G (p.N1055D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677870" "0" "90" "6" "7579760" "7579760" "subst" "0" "02326" "DSP_000053" "g.7579760C>T" "" "" "" "DSP(NM_004415.2):c.3337C>T (p.R1113*), DSP(NM_004415.4):c.3337C>T (p.R1113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000677872" "0" "30" "6" "7580138" "7580138" "subst" "8.1481E-6" "02326" "DSP_000777" "g.7580138C>T" "" "" "" "DSP(NM_004415.2):c.3715C>T (p.L1239F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677873" "0" "50" "6" "7580187" "7580187" "subst" "2.4431E-5" "02326" "DSP_000056" "g.7580187G>A" "" "" "" "DSP(NM_004415.2):c.3764G>A (p.R1255K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677874" "0" "30" "6" "7580500" "7580500" "subst" "4.07731E-6" "02326" "DSP_000778" "g.7580500C>T" "" "" "" "DSP(NM_004415.2):c.4077C>T (p.I1359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677875" "0" "30" "6" "7580912" "7580912" "subst" "0.000290721" "02327" "DSP_000227" "g.7580912C>T" "" "" "" "DSP(NM_004415.2):c.4489C>T (p.R1497W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677877" "0" "10" "6" "7583088" "7583088" "subst" "0.000434507" "02330" "DSP_000245" "g.7583088A>T" "" "" "" "DSP(NM_004415.2):c.5593A>T (p.N1865Y), DSP(NM_004415.4):c.5593A>T (p.N1865Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677879" "0" "30" "6" "7583570" "7583570" "subst" "0" "02326" "DSP_000672" "g.7583570T>A" "" "" "" "DSP(NM_004415.2):c.6075T>A (p.P2025=), DSP(NM_004415.4):c.6075T>A (p.(Pro2025=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677880" "0" "70" "6" "7583973" "7583973" "subst" "8.12453E-6" "02325" "DSP_000301" "g.7583973C>T" "" "" "" "DSP(NM_004415.4):c.6478C>T (p.R2160*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000677882" "0" "50" "6" "7584060" "7584060" "subst" "5.27902E-5" "02327" "DSP_000681" "g.7584060C>T" "" "" "" "DSP(NM_004415.2):c.6565C>T (p.R2189W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677883" "0" "50" "6" "7585419" "7585419" "subst" "1.62787E-5" "02327" "DSP_000692" "g.7585419G>A" "" "" "" "DSP(NM_004415.2):c.7924G>A (p.V2642I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677884" "0" "50" "6" "7585433" "7585433" "subst" "0" "02326" "DSP_000779" "g.7585433G>A" "" "" "" "DSP(NM_004415.2):c.7938G>A (p.T2646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677886" "0" "10" "6" "7586100" "7586100" "subst" "0.00210772" "02330" "DSP_000088" "g.7586100A>G" "" "" "" "DSP(NM_004415.2):c.8605A>G (p.I2869V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689793" "0" "50" "6" "7559521" "7559521" "subst" "2.43928E-5" "02330" "DSP_000780" "g.7559521G>A" "" "" "" "DSP(NM_004415.2):c.485G>A (p.R162H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689795" "0" "50" "6" "7566680" "7566680" "subst" "8.13504E-6" "01943" "DSP_000781" "g.7566680T>C" "" "" "" "DSP(NM_004415.2):c.1010T>C (p.V337A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689796" "0" "90" "6" "7577219" "7577219" "subst" "0" "01943" "DSP_000206" "g.7577219C>T" "" "" "" "DSP(NM_004415.2):c.2821C>T (p.R941*, p.(Arg941Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000689797" "0" "50" "6" "7577264" "7577264" "subst" "9.4459E-5" "02330" "DSP_000209" "g.7577264A>T" "" "" "" "DSP(NM_004415.2):c.2866A>T (p.N956Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689798" "0" "30" "6" "7579726" "7579726" "subst" "4.07495E-5" "01943" "DSP_000115" "g.7579726C>T" "" "" "" "DSP(NM_004415.2):c.3303C>T (p.Y1101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689799" "0" "30" "6" "7580069" "7580069" "subst" "0.000182961" "01943" "DSP_000782" "g.7580069A>G" "" "" "" "DSP(NM_004415.2):c.3646A>G (p.I1216V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689800" "0" "10" "6" "7580923" "7580923" "subst" "5.73211E-5" "02330" "DSP_000783" "g.7580923G>T" "" "" "" "DSP(NM_004415.2):c.4500G>T (p.L1500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689801" "0" "50" "6" "7581102" "7581102" "subst" "4.07854E-6" "02330" "DSP_000659" "g.7581102A>G" "" "" "" "DSP(NM_004415.2):c.4679A>G (p.Q1560R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689803" "0" "10" "6" "7583690" "7583690" "subst" "0" "02330" "DSP_000784" "g.7583690G>A" "" "" "" "DSP(NM_004415.2):c.6195G>A (p.E2065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689804" "0" "50" "6" "7583863" "7583863" "subst" "1.62509E-5" "02326" "DSP_000678" "g.7583863G>A" "" "" "" "DSP(NM_004415.2):c.6368G>A (p.R2123H), DSP(NM_004415.4):c.6368G>A (p.R2123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689805" "0" "70" "6" "7584592" "7584592" "subst" "4.06131E-6" "02325" "DSP_000785" "g.7584592G>A" "" "" "" "DSP(NM_004415.4):c.7097G>A (p.R2366H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000700615" "0" "50" "6" "7542279" "7542279" "subst" "0" "00006" "DSP_000786" "g.7542279G>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7542046G>A" "" "VUS" "" "0000700616" "0" "50" "6" "7558428" "7558428" "subst" "0" "00006" "DSP_000787" "g.7558428T>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7558195T>A" "" "VUS" "" "0000700617" "0" "90" "6" "7559484" "7559484" "subst" "0" "00006" "DSP_000772" "g.7559484C>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7559251C>T" "" "pathogenic" "" "0000700618" "0" "90" "6" "7559514" "7559514" "subst" "0" "00006" "DSP_000789" "g.7559514C>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7559281C>T" "" "pathogenic" "" "0000700619" "0" "50" "6" "7559557" "7559557" "subst" "7.31535E-5" "00006" "DSP_000367" "g.7559557G>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7559324G>T" "" "VUS" "" "0000700620" "0" "50" "6" "7565673" "7565673" "subst" "0" "00006" "DSP_000790" "g.7565673A>G" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7565440A>G" "" "VUS" "" "0000700621" "0" "50" "6" "7565674" "7565674" "subst" "0" "00006" "DSP_000376" "g.7565674A>G" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7565441A>G" "" "VUS" "" "0000700622" "0" "50" "6" "7565682" "7565682" "subst" "0" "00006" "DSP_000791" "g.7565682G>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7565449G>A" "" "VUS" "" "0000700623" "0" "90" "6" "7565754" "7565754" "subst" "0" "00006" "DSP_000018" "g.7565754G>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7565521G>A" "" "pathogenic" "" "0000700624" "0" "90" "6" "7567666" "7567666" "dup" "0" "00006" "DSP_000795" "g.7567666dup" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7567433dup" "" "pathogenic" "" "0000700625" "0" "50" "6" "7568784" "7568784" "subst" "0" "00006" "DSP_000798" "g.7568784A>G" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7568551A>G" "" "VUS" "" "0000700626" "0" "70" "6" "7571678" "7571680" "dup" "0" "00006" "DSP_000800" "g.7571678_7571680dup" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7571445_7571447dup" "" "likely pathogenic" "" "0000700627" "0" "90" "6" "7578034" "7578034" "subst" "0" "00006" "DSP_000804" "g.7578034C>G" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7577801C>G" "" "pathogenic" "" "0000700628" "0" "90" "6" "7579556" "7579556" "subst" "0" "00006" "DSP_000642" "g.7579556C>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579323C>T" "" "pathogenic" "" "0000700629" "0" "90" "6" "7580158" "7580164" "dup" "0" "00006" "DSP_000807" "g.7580158_7580164dup" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579925_7579931dup" "" "pathogenic" "" "0000700630" "0" "50" "6" "7580174" "7580174" "subst" "0" "00006" "DSP_000808" "g.7580174G>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579941G>A" "" "VUS" "" "0000700631" "0" "50" "6" "7580445" "7580445" "subst" "5.2929E-5" "00006" "DSP_000327" "g.7580445G>A" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7580212G>A" "" "VUS" "" "0000700632" "0" "50" "6" "7580644" "7580644" "subst" "0" "00006" "DSP_000809" "g.7580644A>C" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7580411A>C" "" "VUS" "" "0000700633" "0" "50" "6" "7581093" "7581093" "subst" "2.0408E-5" "00006" "DSP_000812" "g.7581093C>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7580860C>T" "" "VUS" "" "0000700634" "0" "90" "6" "7581134" "7581134" "subst" "0" "00006" "DSP_000813" "g.7581134C>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7580901C>T" "" "pathogenic" "" "0000700635" "0" "50" "6" "7584283" "7584283" "subst" "0" "00006" "DSP_000819" "g.7584283T>C" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7584050T>C" "" "VUS" "" "0000700636" "0" "50" "6" "7585342" "7585342" "subst" "1.22012E-5" "00006" "DSP_000821" "g.7585342C>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585109C>T" "" "VUS" "" "0000700637" "0" "50" "6" "7585683" "7585683" "del" "0" "00006" "DSP_000825" "g.7585683del" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585450del" "" "VUS" "" "0000700770" "0" "90" "6" "7558490" "7558490" "subst" "0" "00006" "DSP_000788" "g.7558490C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7558257C>T" "" "pathogenic" "" "0000700771" "0" "90" "6" "7559514" "7559514" "subst" "0" "00006" "DSP_000789" "g.7559514C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7559281C>T" "" "pathogenic" "" "0000700772" "0" "90" "6" "7565632" "7565632" "dup" "0" "00006" "DSP_000098" "g.7565632dup" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7565399dup" "" "pathogenic" "" "0000700773" "0" "50" "6" "7566613" "7566613" "subst" "0.000101921" "00006" "DSP_000174" "g.7566613C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7566380C>T" "" "VUS" "" "0000700774" "0" "50" "6" "7566614" "7566614" "subst" "0" "00006" "DSP_000792" "g.7566614G>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7566381G>C" "" "VUS" "" "0000700775" "0" "90" "6" "7567610" "7567610" "dup" "0" "00006" "DSP_000793" "g.7567610dup" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7567377dup" "" "pathogenic" "" "0000700776" "0" "50" "6" "7567645" "7567645" "subst" "4.06478E-5" "00006" "DSP_000794" "g.7567645T>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7567412T>C" "" "VUS" "" "0000700777" "0" "90" "6" "7567666" "7567666" "dup" "0" "00006" "DSP_000795" "g.7567666dup" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7567433dup" "" "pathogenic" "" "0000700778" "0" "90" "6" "7568061" "7568068" "dup" "0" "00006" "DSP_000796" "g.7568061_7568068dup" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7567828_7567835dup" "" "pathogenic" "" "0000700779" "0" "90" "6" "7568691" "7568691" "subst" "0" "00006" "DSP_000182" "g.7568691G>T" "2/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7568458G>T" "" "pathogenic" "" "0000700780" "0" "50" "6" "7568728" "7568728" "subst" "0" "00006" "DSP_000022" "g.7568728C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7568495C>T" "" "VUS" "" "0000700781" "0" "50" "6" "7568755" "7568755" "subst" "0" "00006" "DSP_000797" "g.7568755G>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7568522G>A" "" "VUS" "" "0000700782" "0" "50" "6" "7569444" "7569444" "subst" "4.06144E-6" "00006" "DSP_000306" "g.7569444G>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7569211G>A" "" "VUS" "" "0000700783" "0" "90" "6" "7571669" "7571669" "dup" "0" "00006" "DSP_000031" "g.7571669dup" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7571436dup" "" "pathogenic" "" "0000700784" "0" "50" "6" "7571673" "7571673" "subst" "0" "00006" "DSP_000799" "g.7571673T>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7571440T>A" "" "VUS" "" "0000700785" "0" "70" "6" "7572217" "7572217" "subst" "0" "00006" "DSP_000801" "g.7572217C>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7571984C>A" "" "likely pathogenic" "" "0000700786" "0" "90" "6" "7572302" "7572302" "subst" "0" "00006" "DSP_000192" "g.7572302G>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7572069G>C" "" "pathogenic" "" "0000700787" "0" "70" "6" "7574349" "7574349" "subst" "4.06336E-6" "00006" "DSP_000621" "g.7574349G>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7574116G>A" "" "likely pathogenic" "" "0000700788" "0" "50" "6" "7575700" "7575700" "subst" "4.0622E-6" "00006" "DSP_000802" "g.7575700T>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7575467T>C" "" "VUS" "" "0000700789" "0" "50" "6" "7577197" "7577197" "subst" "7.3247E-5" "00006" "DSP_000803" "g.7577197G>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7576964G>C" "" "VUS" "" "0000700790" "0" "90" "6" "7579556" "7579556" "subst" "0" "00006" "DSP_000642" "g.7579556C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579323C>T" "" "pathogenic" "" "0000700791" "0" "70" "6" "7579618" "7579618" "subst" "0" "00006" "DSP_000805" "g.7579618C>G" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579385C>G" "" "likely pathogenic" "" "0000700792" "0" "90" "6" "7579752" "7579752" "del" "0" "00006" "DSP_000806" "g.7579752del" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579519del" "" "pathogenic" "" "0000700793" "0" "50" "6" "7579985" "7579985" "subst" "8.56088E-5" "00006" "DSP_000443" "g.7579985T>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579752T>C" "" "VUS" "" "0000700794" "0" "90" "6" "7580158" "7580164" "dup" "0" "00006" "DSP_000807" "g.7580158_7580164dup" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579925_7579931dup" "" "pathogenic" "" "0000700795" "0" "50" "6" "7580187" "7580187" "subst" "2.4431E-5" "00006" "DSP_000056" "g.7580187G>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7579954G>A" "" "VUS" "" "0000700796" "0" "50" "6" "7580540" "7580540" "subst" "7.72999E-5" "00006" "DSP_000223" "g.7580540A>G" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7580307A>G" "" "VUS" "" "0000700797" "0" "90" "6" "7580900" "7580900" "subst" "0" "00006" "DSP_000810" "g.7580900G>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7580667G>T" "" "pathogenic" "" "0000700798" "0" "90" "6" "7580924" "7580924" "subst" "0" "00006" "DSP_000811" "g.7580924G>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7580691G>T" "" "pathogenic" "" "0000700799" "0" "50" "6" "7581291" "7581291" "subst" "0" "00006" "DSP_000814" "g.7581291C>G" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7581058C>G" "" "VUS" "" "0000700800" "0" "50" "6" "7581419" "7581419" "subst" "5.28623E-5" "00006" "DSP_000332" "g.7581419C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7581186C>T" "" "VUS" "" "0000700801" "0" "90" "6" "7583154" "7583155" "del" "0" "00006" "DSP_000815" "g.7583154_7583155del" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7582921_7582922del" "" "pathogenic" "" "0000700802" "0" "90" "6" "7583613" "7583616" "del" "0" "00006" "DSP_000816" "g.7583613_7583616del" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7583380_7583383del" "" "pathogenic" "" "0000700803" "0" "50" "6" "7583676" "7583676" "subst" "0" "00006" "DSP_000817" "g.7583676C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7583443C>T" "" "VUS" "" "0000700804" "0" "90" "6" "7583991" "7583991" "subst" "8.12269E-6" "00006" "DSP_000818" "g.7583991C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7583758C>T" "" "pathogenic" "" "0000700805" "0" "50" "6" "7584507" "7584507" "subst" "0" "00006" "DSP_000820" "g.7584507G>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7584274G>A" "" "VUS" "" "0000700806" "0" "50" "6" "7585279" "7585279" "subst" "8.12183E-6" "00006" "DSP_000152" "g.7585279C>T" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585046C>T" "" "VUS" "" "0000700807" "0" "50" "6" "7585435" "7585435" "subst" "4.06798E-6" "00006" "DSP_000822" "g.7585435G>A" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585202G>A" "" "VUS" "" "0000700808" "0" "70" "6" "7585572" "7585575" "del" "0" "00006" "DSP_000823" "g.7585572_7585575del" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585339_7585342del" "" "likely pathogenic" "" "0000700809" "0" "50" "6" "7585615" "7585615" "subst" "4.06108E-6" "00006" "DSP_000824" "g.7585615T>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585382T>C" "" "VUS" "" "0000700810" "0" "50" "6" "7585804" "7585804" "subst" "2.43688E-5" "00006" "DSP_000826" "g.7585804A>G" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585571A>G" "" "VUS" "" "0000700811" "0" "50" "6" "7585885" "7585885" "subst" "3.65607E-5" "00006" "DSP_000827" "g.7585885T>C" "1/352 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585652T>C" "" "VUS" "" "0000701520" "0" "50" "6" "7562894" "7562894" "subst" "0" "00006" "DSP_000170" "g.7562894G>A" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.7562661G>A" "" "VUS" "" "0000701521" "0" "70" "6" "7562986" "7562986" "subst" "0" "00006" "DSP_000011" "g.7562986G>A" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7562753G>A" "" "likely pathogenic" "" "0000701522" "0" "70" "6" "7565754" "7565754" "subst" "0" "00006" "DSP_000018" "g.7565754G>A" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7565521G>A" "" "likely pathogenic" "" "0000701523" "0" "50" "6" "7566613" "7566613" "subst" "0.000101921" "00006" "DSP_000174" "g.7566613C>T" "2/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.7566380C>T" "" "VUS" "" "0000701524" "0" "70" "6" "7577246" "7577246" "dup" "0" "00006" "DSP_000207" "g.7577246dup" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "2848dupA" "" "Germline" "" "" "0" "" "" "g.7577013dup" "" "likely pathogenic" "" "0000701525" "0" "50" "6" "7584380" "7584380" "subst" "0" "00006" "DSP_000258" "g.7584380A>T" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.7584147A>T" "" "VUS" "" "0000701526" "0" "50" "6" "7585976" "7585987" "del" "0" "00006" "DSP_000828" "g.7585976_7585987del" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.7585743_7585754del" "" "VUS" "" "0000701527" "0" "50" "6" "7585990" "7585990" "subst" "4.13097E-6" "00006" "DSP_000279" "g.7585990G>T" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.7585757G>T" "" "VUS" "" "0000701770" "0" "50" "6" "7576579" "7576579" "subst" "0.000105659" "00006" "DSP_000203" "g.7576579T>C" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000704334" "0" "70" "6" "7585136" "7585136" "subst" "0" "00006" "DSP_000829" "g.7585136C>G" "" "{PMID:Isbister 2020:32931854}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.7584903C>G" "" "likely pathogenic" "ACMG" "0000721057" "0" "30" "6" "7559567" "7559567" "subst" "6.50285E-5" "01943" "DSP_000830" "g.7559567C>G" "" "" "" "DSP(NM_004415.2):c.531C>G (p.G177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721058" "0" "30" "6" "7566657" "7566657" "subst" "0.000191133" "01943" "DSP_000831" "g.7566657G>A" "" "" "" "DSP(NM_004415.2):c.987G>A (p.L329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721059" "0" "50" "6" "7567609" "7567609" "subst" "1.21981E-5" "02325" "DSP_000832" "g.7567609C>T" "" "" "" "DSP(NM_004415.4):c.1067C>T (p.T356M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721060" "0" "30" "6" "7567688" "7567688" "subst" "0.000191391" "01943" "DSP_000833" "g.7567688T>C" "" "" "" "DSP(NM_004415.2):c.1140+6T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721061" "0" "50" "6" "7570766" "7570766" "subst" "8.13048E-6" "01943" "DSP_000615" "g.7570766A>G" "" "" "" "DSP(NM_004415.2):c.1671A>G (p.I557M), DSP(NM_004415.4):c.1671A>G (p.I557M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721062" "0" "90" "6" "7575611" "7575612" "del" "0" "02325" "DSP_000834" "g.7575611_7575612del" "" "" "" "DSP(NM_004415.4):c.2520_2521delTC (p.Q841Dfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721063" "0" "30" "6" "7579570" "7579570" "subst" "2.43984E-5" "01943" "DSP_000438" "g.7579570G>A" "" "" "" "DSP(NM_004415.2):c.3147G>A (p.S1049=), DSP(NM_004415.4):c.3147G>A (p.S1049=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721064" "0" "30" "6" "7579699" "7579699" "subst" "0.000126142" "01943" "DSP_000835" "g.7579699G>C" "" "" "" "DSP(NM_004415.2):c.3276G>C (p.S1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721067" "0" "90" "6" "7579760" "7579760" "subst" "0" "01943" "DSP_000053" "g.7579760C>T" "" "" "" "DSP(NM_004415.2):c.3337C>T (p.R1113*), DSP(NM_004415.4):c.3337C>T (p.R1113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721068" "0" "10" "6" "7580346" "7580346" "subst" "0.00120575" "02330" "DSP_000058" "g.7580346G>A" "" "" "" "DSP(NM_004415.2):c.3923G>A (p.R1308Q, p.(Arg1308Gln)), DSP(NM_004415.4):c.3923G>A (p.R1308Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721072" "0" "90" "6" "7580818" "7580818" "subst" "0" "02330" "DSP_000836" "g.7580818T>A" "" "" "" "DSP(NM_004415.2):c.4395T>A (p.Y1465*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721073" "0" "50" "6" "7580938" "7580938" "subst" "3.27528E-5" "02330" "DSP_000761" "g.7580938G>A" "" "" "" "DSP(NM_004415.2):c.4515G>A (p.A1505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721074" "0" "50" "6" "7581384" "7581384" "subst" "2.8491E-5" "01943" "DSP_000066" "g.7581384T>C" "" "" "" "DSP(NM_004415.2):c.4961T>C (p.L1654P), DSP(NM_004415.4):c.4961T>C (p.L1654P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721075" "0" "50" "6" "7581485" "7581485" "subst" "5.69861E-5" "02330" "DSP_000837" "g.7581485G>A" "" "" "" "DSP(NM_004415.2):c.5062G>A (p.A1688T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721078" "0" "30" "6" "7583354" "7583354" "subst" "0" "01943" "DSP_000838" "g.7583354C>G" "" "" "" "DSP(NM_004415.2):c.5859C>G (p.T1953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721081" "0" "50" "6" "7583802" "7583802" "subst" "0.00013402" "02325" "DSP_000839" "g.7583802A>G" "" "" "" "DSP(NM_004415.2):c.6307A>G (p.K2103E), DSP(NM_004415.4):c.6307A>G (p.K2103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721082" "0" "10" "6" "7583876" "7583876" "subst" "6.09419E-5" "02330" "DSP_000840" "g.7583876C>T" "" "" "" "DSP(NM_004415.2):c.6381C>T (p.A2127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000721083" "0" "30" "6" "7583876" "7583876" "subst" "6.09419E-5" "01943" "DSP_000840" "g.7583876C>T" "" "" "" "DSP(NM_004415.2):c.6381C>T (p.A2127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721084" "0" "50" "6" "7583892" "7583892" "subst" "2.8449E-5" "02325" "DSP_000741" "g.7583892G>A" "" "" "" "DSP(NM_004415.2):c.6397G>A (p.G2133S), DSP(NM_004415.4):c.6397G>A (p.G2133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721088" "0" "30" "6" "7584663" "7584663" "subst" "0" "02326" "DSP_000530" "g.7584663A>G" "" "" "" "DSP(NM_004415.2):c.7168A>G (p.I2390V, p.(Ile2390Val)), DSP(NM_004415.4):c.7168A>G (p.I2390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721089" "0" "50" "6" "7585326" "7585326" "subst" "0" "02326" "DSP_000841" "g.7585326G>T" "" "" "" "DSP(NM_004415.2):c.7831G>T (p.D2611Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721090" "0" "30" "6" "7585885" "7585885" "subst" "3.65607E-5" "01943" "DSP_000827" "g.7585885T>C" "" "" "" "DSP(NM_004415.2):c.8390T>C (p.I2797T, p.(Ile2797Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721091" "0" "50" "6" "7585896" "7585896" "subst" "2.84483E-5" "01943" "DSP_000842" "g.7585896C>G" "" "" "" "DSP(NM_004415.2):c.8401C>G (p.R2801G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721092" "0" "50" "6" "7585944" "7585944" "subst" "0" "02325" "DSP_000843" "g.7585944T>G" "" "" "" "DSP(NM_004415.4):c.8449T>G (p.Y2817D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000790019" "1" "90" "6" "7563990" "7563990" "subst" "0" "00006" "DSP_000844" "g.7563990C>T" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PVS1 PM2 PP3; no genotypes reported" "Germline" "" "" "0" "" "" "g.7563757C>T" "" "pathogenic" "" "0000790033" "1" "90" "6" "7577246" "7577246" "dup" "0" "00006" "DSP_000207" "g.7577246dup" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PVS1 PS4-M PM2 PP3 PP5; no genotypes reported" "Germline" "" "" "0" "" "" "g.7577013dup" "" "pathogenic" "" "0000790049" "1" "70" "6" "7582923" "7582923" "del" "0" "00006" "DSP_000845" "g.7582923del" "" "{PMID:Nguyen 2021:34011823}" "" "" "ACMG PVS1 PM2; no genotypes reported" "Germline" "" "" "0" "" "" "g.7582690del" "" "likely pathogenic" "" "0000790074" "0" "50" "6" "7583497" "7583497" "subst" "0" "03779" "DSP_000846" "g.7583497T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000802700" "0" "50" "6" "7542230" "7542230" "subst" "4.80899E-6" "02326" "DSP_000706" "g.7542230T>G" "" "" "" "DSP(NM_004415.2):c.82T>G (p.Y28D, p.(Tyr28Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802701" "0" "50" "6" "7558448" "7558448" "subst" "0" "02330" "DSP_000847" "g.7558448A>C" "" "" "" "DSP(NM_004415.2):c.373A>C (p.I125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802702" "0" "50" "6" "7565691" "7565693" "del" "0" "02326" "DSP_000848" "g.7565691_7565693del" "" "" "" "DSP(NM_004415.2):c.877_879delGAG (p.E293del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802703" "0" "30" "6" "7565699" "7565699" "subst" "0" "02326" "DSP_000849" "g.7565699G>A" "" "" "" "DSP(NM_004415.2):c.885G>A (p.L295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802704" "0" "50" "6" "7569516" "7569516" "subst" "0" "02330" "DSP_000399" "g.7569516C>T" "" "" "" "DSP(NM_004415.2):c.1517C>T (p.P506L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802705" "0" "10" "6" "7569587" "7569587" "subst" "0.000422689" "02330" "DSP_000104" "g.7569587G>T" "" "" "" "DSP(NM_004415.2):c.1574+14G>T, DSP(NM_004415.4):c.1574+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802706" "0" "10" "6" "7570655" "7570655" "subst" "7.31083E-5" "02330" "DSP_000402" "g.7570655C>G" "" "" "" "DSP(NM_004415.2):c.1575-15C>G, DSP(NM_004415.4):c.1575-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802707" "0" "30" "6" "7575014" "7575014" "subst" "0.000296492" "01943" "DSP_000196" "g.7575014C>T" "" "" "" "DSP(NM_004415.2):c.2422C>T (p.R808C), DSP(NM_004415.4):c.2422C>T (p.R808C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802708" "0" "50" "6" "7579861" "7579861" "subst" "0" "01943" "DSP_000850" "g.7579861G>C" "" "" "" "DSP(NM_004415.2):c.3438G>C (p.R1146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802709" "0" "10" "6" "7580073" "7580073" "subst" "0.000361924" "02330" "DSP_000215" "g.7580073C>T" "" "" "" "DSP(NM_004415.2):c.3650C>T (p.T1217M), DSP(NM_004415.4):c.3650C>T (p.T1217M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802710" "0" "50" "6" "7580684" "7580684" "subst" "4.06322E-6" "02330" "DSP_000851" "g.7580684G>A" "" "" "" "DSP(NM_004415.2):c.4261G>A (p.E1421K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802711" "0" "10" "6" "7581025" "7581025" "subst" "4.07924E-6" "02330" "DSP_000658" "g.7581025A>G" "" "" "" "DSP(NM_004415.2):c.4602A>G (p.E1534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802712" "0" "50" "6" "7581213" "7581221" "del" "0" "02330" "DSP_000852" "g.7581213_7581221del" "" "" "" "DSP(NM_004415.2):c.4790_4798delAGCTGGAAG (p.E1597_E1599del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802713" "0" "30" "6" "7581324" "7581324" "subst" "5.72082E-5" "01943" "DSP_000490" "g.7581324G>A" "" "" "" "DSP(NM_004415.2):c.4901G>A (p.R1634Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802714" "0" "30" "6" "7581739" "7581739" "subst" "0.000349707" "01943" "DSP_000241" "g.7581739T>C" "" "" "" "DSP(NM_004415.2):c.5316T>C (p.D1772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802715" "0" "50" "6" "7581786" "7581786" "subst" "5.73535E-5" "01943" "DSP_000296" "g.7581786A>G" "" "" "" "DSP(NM_004415.2):c.5363A>G (p.Q1788R), DSP(NM_004415.4):c.5363A>G (p.Q1788R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802717" "0" "30" "6" "7583018" "7583018" "subst" "4.46809E-5" "02326" "DSP_000668" "g.7583018A>C" "" "" "" "DSP(NM_004415.2):c.5523A>C (p.S1841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802718" "0" "50" "6" "7583239" "7583239" "subst" "0.000121991" "02325" "DSP_000853" "g.7583239G>A" "" "" "" "DSP(NM_004415.4):c.5744G>A (p.R1915H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802719" "0" "30" "6" "7583293" "7583293" "subst" "0" "01943" "DSP_000736" "g.7583293C>T" "" "" "" "DSP(NM_004415.2):c.5798C>T (p.S1933F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802720" "0" "50" "6" "7583479" "7583479" "subst" "0" "01943" "DSP_000854" "g.7583479T>C" "" "" "" "DSP(NM_004415.2):c.5984T>C (p.L1995S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802722" "0" "50" "6" "7583764" "7583764" "subst" "2.84361E-5" "01943" "DSP_000855" "g.7583764A>G" "" "" "" "DSP(NM_004415.2):c.6269A>G (p.E2090G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802723" "0" "10" "6" "7583855" "7583855" "subst" "3.6564E-5" "02330" "DSP_000856" "g.7583855C>T" "" "" "" "DSP(NM_004415.2):c.6360C>T (p.T2120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802724" "0" "30" "6" "7583944" "7583944" "subst" "4.06379E-6" "01943" "DSP_000122" "g.7583944C>G" "" "" "" "DSP(NM_004415.2):c.6449C>G (p.A2150G), DSP(NM_004415.4):c.6449C>G (p.(Ala2150Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802725" "0" "30" "6" "7584150" "7584150" "subst" "0.000564706" "01943" "DSP_000254" "g.7584150G>A" "" "" "" "DSP(NM_004415.2):c.6655G>A (p.V2219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802726" "0" "50" "6" "7584729" "7584729" "subst" "0" "02326" "DSP_000857" "g.7584729A>G" "" "" "" "DSP(NM_004415.2):c.7234A>G (p.T2412A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802727" "0" "10" "6" "7585082" "7585082" "subst" "0" "02330" "DSP_000858" "g.7585082T>C" "" "" "" "DSP(NM_004415.2):c.7587T>C (p.D2529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802728" "0" "50" "6" "7585350" "7585350" "subst" "8.13769E-6" "02330" "DSP_000859" "g.7585350A>G" "" "" "" "DSP(NM_004415.2):c.7855A>G (p.I2619V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802729" "0" "50" "6" "7586078" "7586078" "del" "0" "02325" "DSP_000860" "g.7586078del" "" "" "" "DSP(NM_004415.4):c.8583delC (p.Y2862Tfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802730" "0" "10" "6" "7586113" "7586115" "dup" "0" "02330" "DSP_000861" "g.7586113_7586115dup" "" "" "" "DSP(NM_004415.2):c.8618_8620dupAGT (p.H2871_*2872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851284" "0" "50" "6" "7563982" "7563982" "subst" "2.84349E-5" "02325" "DSP_000596" "g.7563982C>T" "" "" "" "DSP(NM_004415.2):c.740C>T (p.A247V), DSP(NM_004415.4):c.740C>T (p.A247V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851285" "0" "50" "6" "7567590" "7567590" "subst" "0" "02327" "DSP_000606" "g.7567590T>C" "" "" "" "DSP(NM_004415.2):c.1048T>C (p.Y350H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851286" "0" "50" "6" "7569482" "7569482" "subst" "0.000170574" "01943" "DSP_000291" "g.7569482G>A" "" "" "" "DSP(NM_004415.2):c.1483G>A (p.V495M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851287" "0" "50" "6" "7569536" "7569536" "subst" "0" "02327" "DSP_000862" "g.7569536C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851288" "0" "30" "6" "7570791" "7570791" "subst" "0.000195282" "02327" "DSP_000029" "g.7570791G>A" "" "" "" "DSP(NM_004415.2):c.1696G>A (p.A566T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851289" "0" "50" "6" "7572120" "7572120" "subst" "2.84919E-5" "02325" "DSP_000618" "g.7572120A>G" "" "" "" "DSP(NM_004415.2):c.1949A>G (p.N650S), DSP(NM_004415.4):c.1949A>G (p.N650S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851290" "0" "90" "6" "7574487" "7574487" "subst" "0" "01943" "DSP_000573" "g.7574487T>A" "" "" "" "DSP(NM_004415.2):c.2297+2T>A, DSP(NM_004415.4):c.2297+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000851291" "0" "30" "6" "7574492" "7574492" "del" "0" "02326" "DSP_000864" "g.7574492del" "" "" "" "DSP(NM_004415.2):c.2297+7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851292" "0" "50" "6" "7575608" "7575608" "subst" "0" "02330" "DSP_000865" "g.7575608C>G" "" "" "" "DSP(NM_004415.2):c.2517C>G (p.H839Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851293" "0" "30" "6" "7576562" "7576562" "subst" "6.50348E-5" "02327" "DSP_000630" "g.7576562G>A" "" "" "" "DSP(NM_004415.2):c.2666G>A (p.R889K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851294" "0" "30" "6" "7578066" "7578066" "subst" "4.06114E-6" "02327" "DSP_000867" "g.7578066A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851295" "0" "30" "6" "7578715" "7578715" "subst" "4.06392E-5" "02327" "DSP_000430" "g.7578715C>T" "" "" "" "DSP(NM_001008844.1):c.3004C>T (p.(Arg1002Trp)), DSP(NM_004415.2):c.3004C>T (p.R1002W), DSP(NM_004415.4):c.3004C>T (p.R1002W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851296" "0" "30" "6" "7579717" "7579717" "subst" "1.62884E-5" "02326" "DSP_000647" "g.7579717C>G" "" "" "" "DSP(NM_004415.2):c.3294C>G (p.D1098E), DSP(NM_004415.4):c.3294C>G (p.D1098E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851297" "0" "30" "6" "7580345" "7580345" "subst" "8.14618E-5" "02327" "DSP_000451" "g.7580345C>T" "" "" "" "DSP(NM_004415.2):c.3922C>T (p.R1308W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851298" "0" "30" "6" "7580938" "7580938" "subst" "3.27528E-5" "01943" "DSP_000761" "g.7580938G>A" "" "" "" "DSP(NM_004415.2):c.4515G>A (p.A1505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851299" "0" "30" "6" "7580949" "7580949" "subst" "0.000184016" "02327" "DSP_000871" "g.7580949G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851300" "0" "30" "6" "7580988" "7580988" "subst" "6.1229E-5" "02327" "DSP_000149" "g.7580988C>T" "" "" "" "DSP(NM_004415.2):c.4565C>T (p.T1522M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851301" "0" "30" "6" "7581415" "7581415" "subst" "9.7588E-5" "02327" "DSP_000872" "g.7581415G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851302" "0" "50" "6" "7581429" "7581429" "subst" "0" "02327" "DSP_000873" "g.7581429T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851303" "0" "10" "6" "7581514" "7581514" "subst" "1.22183E-5" "02330" "DSP_000874" "g.7581514T>C" "" "" "" "DSP(NM_004415.2):c.5091T>C (p.N1697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851304" "0" "30" "6" "7581596" "7581596" "subst" "0.000142241" "02327" "DSP_000333" "g.7581596C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851305" "0" "30" "6" "7583290" "7583290" "subst" "2.44497E-5" "02327" "DSP_000503" "g.7583290G>A" "" "" "" "DSP(NM_004415.2):c.5795G>A (p.R1932H), DSP(NM_004415.4):c.5795G>A (p.R1932H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851307" "0" "50" "6" "7583937" "7583937" "subst" "1.62574E-5" "02325" "DSP_000742" "g.7583937G>A" "" "" "" "DSP(NM_004415.4):c.6442G>A (p.A2148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851309" "0" "50" "6" "7584228" "7584228" "subst" "4.06342E-6" "02325" "DSP_000877" "g.7584228G>A" "" "" "" "DSP(NM_004415.4):c.6733G>A (p.E2245K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851310" "0" "30" "6" "7584294" "7584294" "subst" "0.000312734" "02327" "DSP_000256" "g.7584294A>T" "" "" "" "DSP(NM_004415.2):c.6799A>T (p.T2267S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851311" "0" "50" "6" "7584300" "7584300" "subst" "4.06131E-6" "02325" "DSP_000878" "g.7584300A>G" "" "" "" "DSP(NM_004415.4):c.6805A>G (p.K2269E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851312" "0" "50" "6" "7585240" "7585240" "subst" "1.21818E-5" "02327" "DSP_000336" "g.7585240T>G" "" "" "" "DSP(NM_004415.2):c.7745T>G (p.F2582C), DSP(NM_004415.4):c.7745T>G (p.(Phe2582Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851315" "0" "30" "6" "7585686" "7585686" "subst" "0.00258308" "02327" "DSP_000298" "g.7585686T>C" "" "" "" "DSP(NM_004415.2):c.8191T>C (p.Y2731H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851316" "0" "50" "6" "7585928" "7585928" "subst" "3.66279E-5" "02330" "DSP_000881" "g.7585928G>A" "" "" "" "DSP(NM_004415.2):c.8433G>A (p.K2811=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851317" "0" "50" "6" "7585967" "7585978" "del" "0" "01943" "DSP_000882" "g.7585967_7585978del" "" "" "" "DSP(NM_004415.2):c.8472_8483delGTCCCGCTCCGG (p.S2843_R2846del), DSP(NM_004415.4):c.8472_8483del (p.(Ser2843_Arg2846del)), DSP(NM_004415.4):c.8472_8..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851318" "0" "30" "6" "7585988" "7585988" "subst" "2.48032E-5" "01943" "DSP_000883" "g.7585988G>C" "" "" "" "DSP(NM_004415.2):c.8493G>C (p.S2831=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851319" "0" "30" "6" "7586000" "7586000" "subst" "0" "01943" "DSP_000884" "g.7586000C>T" "" "" "" "DSP(NM_004415.2):c.8505C>T (p.S2835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860494" "0" "50" "6" "7542230" "7542230" "subst" "4.80899E-6" "02330" "DSP_000706" "g.7542230T>G" "" "" "" "DSP(NM_004415.2):c.82T>G (p.Y28D, p.(Tyr28Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860495" "0" "50" "6" "7562982" "7562982" "subst" "4.06177E-6" "02326" "DSP_000595" "g.7562982G>A" "" "" "" "DSP(NM_004415.2):c.695G>A (p.R232H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860496" "0" "10" "6" "7563959" "7563959" "subst" "3.65586E-5" "02330" "DSP_000710" "g.7563959T>G" "" "" "" "DSP(NM_004415.2):c.727-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860497" "0" "50" "6" "7568036" "7568036" "subst" "0" "02325" "DSP_000608" "g.7568036C>T" "" "" "" "DSP(NM_004415.4):c.1163C>T (p.T388I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860498" "0" "70" "6" "7570797" "7570797" "subst" "0" "01943" "DSP_000863" "g.7570797G>A" "" "" "" "DSP(NM_004415.2):c.1701+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860499" "0" "50" "6" "7576692" "7576692" "subst" "0" "01943" "DSP_000866" "g.7576692A>G" "" "" "" "DSP(NM_004415.2):c.2793+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860500" "0" "50" "6" "7578704" "7578704" "subst" "0" "02330" "DSP_000868" "g.7578704A>G" "" "" "" "DSP(NM_004415.2):c.2993A>G (p.D998G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860501" "0" "50" "6" "7580217" "7580217" "subst" "0" "02325" "DSP_000869" "g.7580217A>G" "" "" "" "DSP(NM_004415.4):c.3794A>G (p.E1265G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860502" "0" "30" "6" "7580404" "7580404" "subst" "8.95809E-5" "01943" "DSP_000870" "g.7580404C>T" "" "" "" "DSP(NM_004415.2):c.3981C>T (p.I1327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860503" "0" "10" "6" "7581172" "7581172" "subst" "7.33963E-5" "02330" "DSP_000729" "g.7581172C>T" "" "" "" "DSP(NM_004415.2):c.4749C>T (p.T1583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860506" "0" "50" "6" "7583454" "7583454" "subst" "2.03094E-5" "02326" "DSP_000875" "g.7583454G>A" "" "" "" "DSP(NM_004415.2):c.5959G>A (p.D1987N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860507" "0" "50" "6" "7583862" "7583862" "subst" "2.43778E-5" "02330" "DSP_000876" "g.7583862C>T" "" "" "" "DSP(NM_004415.2):c.6367C>T (p.R2123C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860508" "0" "50" "6" "7585795" "7585795" "subst" "0" "02325" "DSP_000695" "g.7585795C>G" "" "" "" "DSP(NM_004415.2):c.8300C>G (p.T2767S), DSP(NM_004415.4):c.8300C>G (p.T2767S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860509" "0" "50" "6" "7585995" "7585995" "subst" "3.314E-5" "02330" "DSP_000125" "g.7585995C>T" "" "" "" "DSP(NM_004415.2):c.8500C>T (p.R2834C), DSP(NM_004415.4):c.8500C>T (p.R2834C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860510" "0" "50" "6" "7585995" "7585995" "subst" "3.314E-5" "02326" "DSP_000125" "g.7585995C>T" "" "" "" "DSP(NM_004415.2):c.8500C>T (p.R2834C), DSP(NM_004415.4):c.8500C>T (p.R2834C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860511" "0" "30" "6" "7586003" "7586014" "del" "0" "01943" "DSP_000885" "g.7586003_7586014del" "" "" "" "DSP(NM_004415.2):c.8508_8519delATCTCGCTCCGG (p.S2843_R2846del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877916" "0" "70" "6" "7571682" "7571682" "subst" "0" "03779" "DSP_000886" "g.7571682T>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000878858" "0" "70" "6" "7579686" "7579686" "subst" "0" "04384" "DSP_000888" "g.7579686T>C" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000878889" "0" "90" "6" "7584743" "7584743" "dup" "0" "04384" "DSP_000887" "g.7584743dup" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "0" "" "" "g.7584510dup" "" "pathogenic" "" "0000878901" "0" "70" "6" "7579973" "7579973" "subst" "1.63411E-5" "04384" "DSP_000889" "g.7579973C>T" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000879762" "11" "50" "6" "7580327" "7580327" "subst" "2.44262E-5" "00006" "DSP_000890" "g.7580327C>T" "" "{PMID:Reinstein 2016:27329731}" "" "" "" "Germline" "" "rs775594375" "0" "" "" "" "" "VUS" "" "0000887401" "0" "30" "6" "7542259" "7542259" "subst" "0" "02327" "DSP_000891" "g.7542259C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887402" "0" "90" "6" "7555954" "7555954" "subst" "6.0935E-5" "02330" "DSP_000892" "g.7555954A>G" "" "" "" "DSP(NM_004415.2):c.174A>G (p.Q58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887403" "0" "50" "6" "7556029" "7556029" "subst" "0" "02330" "DSP_000893" "g.7556029G>A" "" "" "" "DSP(NM_004415.2):c.249G>A (p.M83I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887404" "0" "30" "6" "7559450" "7559450" "dup" "0" "02326" "DSP_000363" "g.7559450dup" "" "" "" "DSP(NM_004415.2):c.423-9dupT, DSP(NM_004415.4):c.423-8delCinsTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887405" "0" "30" "6" "7559557" "7559557" "subst" "7.31535E-5" "02327" "DSP_000367" "g.7559557G>T" "" "" "" "DSP(NM_004415.2):c.521G>T (p.C174F), DSP(NM_004415.4):c.521G>T (p.C174F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887406" "0" "10" "6" "7564038" "7564038" "subst" "2.84433E-5" "02330" "DSP_000894" "g.7564038C>T" "" "" "" "DSP(NM_004415.2):c.777+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887407" "0" "50" "6" "7565749" "7565751" "del" "0" "02326" "DSP_000895" "g.7565749_7565751del" "" "" "" "DSP(NM_004415.2):c.935_937delTCT (p.F312del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887408" "0" "50" "6" "7566646" "7566646" "subst" "0" "02325" "DSP_000896" "g.7566646C>T" "" "" "" "DSP(NM_004415.4):c.976C>T (p.L326F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887409" "0" "30" "6" "7566720" "7566720" "dup" "0" "02327" "DSP_000897" "g.7566720dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887410" "0" "10" "6" "7567601" "7567601" "subst" "0" "02330" "DSP_000898" "g.7567601T>A" "" "" "" "DSP(NM_004415.2):c.1059T>A (p.T353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887411" "0" "50" "6" "7567642" "7567642" "subst" "0" "02330" "DSP_000899" "g.7567642G>T" "" "" "" "DSP(NM_004415.2):c.1100G>T (p.C367F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887412" "0" "50" "6" "7568031" "7568031" "subst" "4.06435E-6" "02330" "DSP_000900" "g.7568031G>T" "" "" "" "DSP(NM_004415.2):c.1158G>T (p.Q386H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887413" "0" "50" "6" "7568135" "7568135" "subst" "8.13941E-6" "02325" "DSP_000901" "g.7568135T>C" "" "" "" "DSP(NM_004415.4):c.1262T>C (p.L421P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887414" "0" "90" "6" "7574485" "7574485" "subst" "0" "02330" "DSP_000902" "g.7574485G>C" "" "" "" "DSP(NM_004415.2):c.2297G>C (p.S766T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887415" "0" "30" "6" "7574490" "7574490" "subst" "0" "02325" "DSP_000903" "g.7574490A>G" "" "" "" "DSP(NM_004415.4):c.2297+5A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887416" "0" "10" "6" "7575044" "7575044" "subst" "0.00039403" "02330" "DSP_000410" "g.7575044A>G" "" "" "" "DSP(NM_004415.2):c.2436+16A>G, DSP(NM_004415.4):c.2436+16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887417" "0" "50" "6" "7575657" "7575657" "subst" "4.06105E-6" "02326" "DSP_000904" "g.7575657T>C" "" "" "" "DSP(NM_004415.2):c.2566T>C (p.F856L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887418" "0" "30" "6" "7575739" "7575739" "subst" "0.00147104" "02326" "DSP_000415" "g.7575739C>T" "" "" "" "DSP(NM_004415.2):c.2630+18C>T, DSP(NM_004415.4):c.2630+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887419" "0" "30" "6" "7576667" "7576667" "subst" "2.43726E-5" "02327" "DSP_000905" "g.7576667T>C" "" "" "" "DSP(NM_004415.2):c.2771T>C (p.M924T), DSP(NM_004415.4):c.2771T>C (p.M924T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887420" "0" "30" "6" "7576670" "7576670" "subst" "0.000247808" "02326" "DSP_000632" "g.7576670G>A" "" "" "" "DSP(NM_004415.2):c.2774G>A (p.R925Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887421" "0" "10" "6" "7577293" "7577293" "subst" "0" "02330" "DSP_000428" "g.7577293A>C" "" "" "" "DSP(NM_004415.2):c.2877+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887422" "0" "50" "6" "7578067" "7578067" "subst" "1.21835E-5" "02325" "DSP_000638" "g.7578067T>A" "" "" "" "DSP(NM_004415.2):c.2933T>A (p.I978K), DSP(NM_004415.4):c.2933T>A (p.I978K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887423" "0" "50" "6" "7578092" "7578092" "subst" "0" "02330" "DSP_000906" "g.7578092G>T" "" "" "" "DSP(NM_004415.2):c.2958G>T (p.Q986H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887424" "0" "50" "6" "7579529" "7579529" "subst" "0" "02330" "DSP_000907" "g.7579529G>A" "" "" "" "DSP(NM_004415.2):c.3106G>A (p.V1036I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887425" "0" "50" "6" "7579585" "7579587" "del" "0" "02326" "DSP_000439" "g.7579585_7579587del" "" "" "" "DSP(NM_004415.2):c.3162_3164delGAA (p.K1054del), DSP(NM_004415.4):c.3162_3164delGAA (p.K1054del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887426" "0" "10" "6" "7579819" "7579819" "subst" "2.04337E-5" "02330" "DSP_000054" "g.7579819T>C" "" "" "" "DSP(NM_004415.2):c.3396T>C (p.F1132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887427" "0" "30" "6" "7579927" "7579927" "subst" "0" "02327" "DSP_000908" "g.7579927G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887428" "0" "10" "6" "7579933" "7579933" "subst" "0.00230411" "02326" "DSP_000055" "g.7579933G>A" "" "" "" "DSP(NM_004415.2):c.3510G>A (p.E1170=), DSP(NM_004415.4):c.3510G>A (p.E1170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887429" "0" "30" "6" "7580100" "7580100" "subst" "0" "02327" "DSP_000909" "g.7580100T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887430" "0" "50" "6" "7580285" "7580285" "subst" "0.000276695" "02325" "DSP_000217" "g.7580285A>C" "" "" "" "DSP(NM_004415.2):c.3862A>C (p.K1288Q), DSP(NM_004415.4):c.3862A>C (p.(Lys1288Gln), p.K1288Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887431" "0" "30" "6" "7580323" "7580323" "subst" "0" "02327" "DSP_000910" "g.7580323G>A" "" "" "" "DSP(NM_004415.2):c.3900G>A (p.Q1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887432" "0" "30" "6" "7580348" "7580348" "subst" "0" "02327" "DSP_000911" "g.7580348C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887433" "0" "50" "6" "7580387" "7580387" "subst" "0" "02325" "DSP_000912" "g.7580387G>A" "" "" "" "DSP(NM_004415.4):c.3964G>A (p.D1322N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887434" "0" "50" "6" "7580394" "7580394" "subst" "1.22114E-5" "02327" "DSP_000913" "g.7580394A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887435" "0" "30" "6" "7580659" "7580659" "subst" "0" "02327" "DSP_000914" "g.7580659G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887436" "0" "90" "6" "7580789" "7580789" "subst" "0" "02330" "DSP_000915" "g.7580789C>T" "" "" "" "DSP(NM_004415.2):c.4366C>T (p.Q1456*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000887437" "0" "50" "6" "7581198" "7581198" "subst" "0.000224501" "02325" "DSP_000233" "g.7581198A>G" "" "" "" "DSP(NM_004415.2):c.4775A>G (p.K1592R), DSP(NM_004415.4):c.4775A>G (p.K1592R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887438" "0" "30" "6" "7581415" "7581415" "subst" "0" "02327" "DSP_000916" "g.7581415G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887439" "0" "50" "6" "7581458" "7581458" "subst" "4.06693E-6" "02330" "DSP_000493" "g.7581458C>T" "" "" "" "DSP(NM_004415.2):c.5035C>T (p.H1679Y), DSP(NM_004415.4):c.5035C>T (p.H1679Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887440" "0" "10" "6" "7581727" "7581727" "subst" "0.000524791" "02330" "DSP_000666" "g.7581727G>C" "" "" "" "DSP(NM_004415.2):c.5304G>C (p.G1768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887441" "0" "50" "6" "7581747" "7581747" "subst" "6.50994E-5" "02327" "DSP_000068" "g.7581747G>T" "" "" "" "DSP(NM_004415.2):c.5324G>T (p.R1775I), DSP(NM_004415.4):c.5324G>T (p.(Arg1775Ile), p.R1775I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887444" "0" "50" "6" "7582964" "7582964" "subst" "0" "02326" "DSP_000917" "g.7582964G>C" "" "" "" "DSP(NM_004415.2):c.5469G>C (p.E1823D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887445" "0" "50" "6" "7583008" "7583008" "subst" "8.12519E-5" "02325" "DSP_000244" "g.7583008G>A" "" "" "" "DSP(NM_004415.4):c.5513G>A (p.R1838H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887446" "0" "50" "6" "7583092" "7583092" "subst" "8.12275E-6" "02327" "DSP_000918" "g.7583092A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887447" "0" "50" "6" "7583293" "7583293" "subst" "0" "02330" "DSP_000736" "g.7583293C>T" "" "" "" "DSP(NM_004415.2):c.5798C>T (p.S1933F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887448" "0" "30" "6" "7583354" "7583354" "subst" "0" "02327" "DSP_000838" "g.7583354C>G" "" "" "" "DSP(NM_004415.2):c.5859C>G (p.T1953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887450" "0" "30" "6" "7583453" "7583453" "subst" "2.03089E-5" "02327" "DSP_000919" "g.7583453C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887451" "0" "30" "6" "7583568" "7583568" "subst" "0" "02327" "DSP_000671" "g.7583568C>T" "" "" "" "DSP(NM_004415.2):c.6073C>T (p.P2025S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887452" "0" "50" "6" "7583802" "7583802" "subst" "0.00013402" "02327" "DSP_000839" "g.7583802A>G" "" "" "" "DSP(NM_004415.2):c.6307A>G (p.K2103E), DSP(NM_004415.4):c.6307A>G (p.K2103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887453" "0" "50" "6" "7583892" "7583892" "subst" "2.8449E-5" "02326" "DSP_000741" "g.7583892G>A" "" "" "" "DSP(NM_004415.2):c.6397G>A (p.G2133S), DSP(NM_004415.4):c.6397G>A (p.G2133S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887454" "0" "50" "6" "7584307" "7584307" "subst" "8.12189E-6" "02330" "DSP_000920" "g.7584307A>C" "" "" "" "DSP(NM_004415.2):c.6812A>C (p.K2271T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887455" "0" "50" "6" "7584729" "7584729" "subst" "0" "02330" "DSP_000857" "g.7584729A>G" "" "" "" "DSP(NM_004415.2):c.7234A>G (p.T2412A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887456" "0" "50" "6" "7585144" "7585144" "subst" "8.12137E-6" "02326" "DSP_000921" "g.7585144G>A" "" "" "" "DSP(NM_004415.2):c.7649G>A (p.G2550D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887457" "0" "30" "6" "7585514" "7585514" "subst" "0.000195305" "02326" "DSP_000268" "g.7585514C>T" "" "" "" "DSP(NM_004415.2):c.8019C>T (p.D2673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887458" "0" "30" "6" "7585625" "7585625" "subst" "0" "02327" "DSP_000922" "g.7585625A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887459" "0" "50" "6" "7585962" "7585962" "subst" "0.00032381" "02325" "DSP_000923" "g.7585962C>G" "" "" "" "DSP(NM_004415.4):c.8467C>G (p.P2823A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887460" "0" "50" "6" "7585967" "7585978" "del" "0" "02325" "DSP_000882" "g.7585967_7585978del" "" "" "" "DSP(NM_004415.2):c.8472_8483delGTCCCGCTCCGG (p.S2843_R2846del), DSP(NM_004415.4):c.8472_8483del (p.(Ser2843_Arg2846del)), DSP(NM_004415.4):c.8472_8..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887461" "0" "50" "6" "7586026" "7586026" "subst" "4.18803E-6" "02330" "DSP_000281" "g.7586026G>T" "" "" "" "DSP(NM_004415.2):c.8531G>T (p.G2844V), DSP(NM_004415.4):c.8531G>T (p.G2844V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887462" "0" "50" "6" "7586026" "7586026" "subst" "4.18803E-6" "02325" "DSP_000281" "g.7586026G>T" "" "" "" "DSP(NM_004415.2):c.8531G>T (p.G2844V), DSP(NM_004415.4):c.8531G>T (p.G2844V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887463" "0" "30" "6" "7586075" "7586075" "subst" "1.22429E-5" "02326" "DSP_000924" "g.7586075T>C" "" "" "" "DSP(NM_004415.2):c.8580T>C (p.Y2860=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000903165" "3" "50" "6" "7586081" "7586081" "del" "0" "03069" "DSP_000925" "g.7586081del" "" "{PMID:Pantou 2023:37143080}" "" "" "" "Germline" "yes" "" "0" "" "" "g.7585848del" "" "VUS" "ACMG" "0000912564" "0" "50" "6" "7555954" "7555954" "subst" "6.0935E-5" "02326" "DSP_000892" "g.7555954A>G" "" "" "" "DSP(NM_004415.2):c.174A>G (p.Q58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912565" "0" "10" "6" "7558504" "7558504" "subst" "0" "02330" "DSP_000926" "g.7558504T>C" "" "" "" "DSP(NM_004415.2):c.422+7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912566" "0" "50" "6" "7562982" "7562982" "subst" "4.06177E-6" "02330" "DSP_000595" "g.7562982G>A" "" "" "" "DSP(NM_004415.2):c.695G>A (p.R232H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912567" "0" "10" "6" "7567569" "7567569" "subst" "0" "02330" "DSP_000605" "g.7567569G>A" "" "" "" "DSP(NM_004415.2):c.1045-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912568" "0" "30" "6" "7567604" "7567604" "subst" "0" "02330" "DSP_000927" "g.7567604G>A" "" "" "" "DSP(NM_004415.2):c.1062G>A (p.L354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912569" "0" "50" "6" "7574448" "7574448" "subst" "1.21897E-5" "02325" "DSP_000572" "g.7574448G>A" "" "" "" "DSP(NM_004415.2):c.2260G>A (p.E754K), DSP(NM_004415.4):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912570" "0" "50" "6" "7579622" "7579622" "subst" "4.06759E-6" "02330" "DSP_000928" "g.7579622G>T" "" "" "" "DSP(NM_004415.2):c.3199G>T (p.A1067S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912571" "0" "30" "6" "7580564" "7580564" "subst" "0.000670704" "02326" "DSP_000463" "g.7580564A>T" "" "" "" "DSP(NM_004415.2):c.4141A>T (p.T1381S), DSP(NM_004415.4):c.4141A>T (p.T1381S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912572" "0" "10" "6" "7580800" "7580800" "subst" "8.12995E-6" "02330" "DSP_000929" "g.7580800A>G" "" "" "" "DSP(NM_004415.2):c.4377A>G (p.T1459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912573" "0" "30" "6" "7581786" "7581786" "subst" "5.73535E-5" "02325" "DSP_000296" "g.7581786A>G" "" "" "" "DSP(NM_004415.2):c.5363A>G (p.Q1788R), DSP(NM_004415.4):c.5363A>G (p.Q1788R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912574" "0" "90" "6" "7583831" "7583831" "del" "0" "02330" "DSP_000513" "g.7583831del" "" "" "" "DSP(NM_004415.2):c.6336delG (p.N2114Ifs*2), DSP(NM_004415.4):c.6336delG (p.N2114Ifs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912575" "0" "50" "6" "7583842" "7583842" "subst" "0" "02330" "DSP_000930" "g.7583842T>C" "" "" "" "DSP(NM_004415.2):c.6347T>C (p.I2116T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912576" "0" "30" "6" "7585490" "7585490" "subst" "0.000663448" "02326" "DSP_000083" "g.7585490G>A" "" "" "" "DSP(NM_004415.2):c.7995G>A (p.T2665=), DSP(NM_004415.4):c.7995G>A (p.T2665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912577" "0" "50" "6" "7585632" "7585632" "subst" "0" "02330" "DSP_000931" "g.7585632G>A" "" "" "" "DSP(NM_004415.2):c.8137G>A (p.V2713M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912578" "0" "30" "6" "7586110" "7586110" "subst" "0" "02325" "DSP_000932" "g.7586110A>G" "" "" "" "DSP(NM_004415.4):c.8615A>G (p.*2872Wext*1)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920325" "3" "90" "6" "7585407" "7585407" "subst" "0" "00006" "DSP_000933" "g.7585407G>T" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "g.7585174G>T" "" "pathogenic" "ACMG" "0000924557" "0" "30" "6" "7556022" "7556022" "subst" "0.000142246" "02327" "DSP_000094" "g.7556022G>A" "" "" "" "DSP(NM_004415.2):c.242G>A (p.C81Y), DSP(NM_004415.4):c.242G>A (p.C81Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924558" "0" "50" "6" "7567630" "7567630" "subst" "0" "02330" "DSP_000713" "g.7567630A>C" "" "" "" "DSP(NM_004415.2):c.1088A>C (p.Q363P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924559" "0" "30" "6" "7572091" "7572091" "subst" "0.000413169" "02326" "DSP_000565" "g.7572091C>T" "" "" "" "DSP(NM_004415.2):c.1920C>T (p.I640=), DSP(NM_004415.4):c.1920C>T (p.I640=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924560" "0" "30" "6" "7572306" "7572306" "subst" "0" "02325" "DSP_000934" "g.7572306G>T" "" "" "" "DSP(NM_004415.4):c.2130+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924562" "0" "50" "6" "7576667" "7576667" "subst" "2.43726E-5" "02325" "DSP_000905" "g.7576667T>C" "" "" "" "DSP(NM_004415.2):c.2771T>C (p.M924T), DSP(NM_004415.4):c.2771T>C (p.M924T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924565" "0" "90" "6" "7581110" "7581111" "del" "0" "02330" "DSP_000935" "g.7581110_7581111del" "" "" "" "DSP(NM_004415.2):c.4687_4688delCT (p.L1563Efs*63)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924566" "0" "50" "6" "7581384" "7581384" "subst" "2.8491E-5" "02330" "DSP_000066" "g.7581384T>C" "" "" "" "DSP(NM_004415.2):c.4961T>C (p.L1654P), DSP(NM_004415.4):c.4961T>C (p.L1654P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924568" "0" "10" "6" "7582871" "7582871" "subst" "0" "02330" "DSP_000936" "g.7582871C>A" "" "" "" "DSP(NM_004415.2):c.5380-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924571" "0" "50" "6" "7583505" "7583505" "subst" "1.21863E-5" "02330" "DSP_000250" "g.7583505G>T" "" "" "" "DSP(NM_004415.2):c.6010G>T (p.V2004F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924573" "0" "30" "6" "7585229" "7585229" "subst" "0.000198967" "02326" "DSP_000081" "g.7585229C>T" "" "" "" "DSP(NM_004415.2):c.7734C>T (p.S2578=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929225" "0" "30" "6" "7542226" "7542226" "subst" "5.74641E-5" "02326" "DSP_000153" "g.7542226G>T" "" "" "" "DSP(NM_004415.2):c.78G>T (p.L26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929226" "0" "10" "6" "7542280" "7542280" "subst" "0" "02330" "DSP_000349" "g.7542280G>A" "" "" "" "DSP(NM_004415.2):c.132G>A (p.R44=), DSP(NM_004415.4):c.132G>A (p.R44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929227" "0" "10" "6" "7566726" "7566726" "subst" "7.37046E-5" "02330" "DSP_000937" "g.7566726G>A" "" "" "" "DSP(NM_004415.2):c.1044+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929228" "0" "50" "6" "7569444" "7569444" "subst" "4.06144E-6" "02330" "DSP_000306" "g.7569444G>A" "" "" "" "DSP(NM_004415.2):c.1445G>A (p.C482Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929229" "0" "10" "6" "7569481" "7569481" "subst" "4.4674E-5" "02330" "DSP_000396" "g.7569481C>T" "" "" "" "DSP(NM_004415.2):c.1482C>T (p.Y494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929230" "0" "50" "6" "7571649" "7571649" "subst" "0" "02329" "DSP_000938" "g.7571649A>G" "" "" "" "DSP(NM_004415.2):c.1735A>G (p.T579A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929231" "0" "70" "6" "7575653" "7575653" "subst" "0" "02326" "DSP_000939" "g.7575653C>T" "" "" "" "DSP(NM_004415.2):c.2562C>T (p.G854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929232" "0" "30" "6" "7576669" "7576669" "subst" "0.000398115" "02325" "DSP_000631" "g.7576669C>T" "" "" "" "DSP(NM_004415.2):c.2773C>T (p.R925W), DSP(NM_004415.4):c.2773C>T (p.R925W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929233" "0" "50" "6" "7578092" "7578092" "subst" "0" "02327" "DSP_000906" "g.7578092G>T" "" "" "" "DSP(NM_004415.2):c.2958G>T (p.Q986H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929234" "0" "50" "6" "7579569" "7579569" "subst" "7.31933E-5" "02330" "DSP_000644" "g.7579569C>T" "" "" "" "DSP(NM_004415.2):c.3146C>T (p.S1049L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929235" "0" "90" "6" "7580954" "7580954" "subst" "2.04432E-5" "02330" "DSP_000940" "g.7580954C>T" "" "" "" "DSP(NM_004415.2):c.4531C>T (p.Q1511*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929236" "0" "50" "6" "7581672" "7581672" "subst" "0" "02330" "DSP_000941" "g.7581672T>G" "" "" "" "DSP(NM_004415.2):c.5249T>G (p.L1750W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929239" "0" "30" "6" "7584047" "7584047" "subst" "0" "02326" "DSP_000942" "g.7584047G>T" "" "" "" "DSP(NM_004415.2):c.6552G>T (p.V2184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929240" "0" "50" "6" "7584154" "7584154" "subst" "0" "02330" "DSP_000943" "g.7584154C>A" "" "" "" "DSP(NM_004415.2):c.6659C>A (p.T2220N), DSP(NM_004415.4):c.6659C>A (p.T2220N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929241" "0" "70" "6" "7584198" "7584198" "subst" "0" "02330" "DSP_000944" "g.7584198G>T" "" "" "" "DSP(NM_004415.2):c.6703G>T (p.E2235*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929242" "0" "50" "6" "7585612" "7585612" "subst" "3.24886E-5" "02330" "DSP_000945" "g.7585612A>T" "" "" "" "DSP(NM_004415.2):c.8117A>T (p.K2706M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948748" "0" "50" "6" "7542230" "7542230" "subst" "4.80899E-6" "02329" "DSP_000946" "g.7542230T>C" "" "" "" "DSP(NM_004415.2):c.82T>C (p.Y28H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948749" "0" "50" "6" "7558419" "7558419" "subst" "6.09187E-5" "02325" "DSP_000008" "g.7558419A>G" "" "" "" "DSP(NM_004415.2):c.344A>G (p.N115S), DSP(NM_004415.4):c.344A>G (p.N115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948750" "0" "50" "6" "7559459" "7559459" "subst" "0" "02326" "DSP_000947" "g.7559459G>T" "" "" "" "DSP(NM_004415.2):c.423G>T (p.R141S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948751" "0" "10" "6" "7559567" "7559567" "subst" "6.50285E-5" "02330" "DSP_000830" "g.7559567C>G" "" "" "" "DSP(NM_004415.2):c.531C>G (p.G177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948752" "0" "50" "6" "7566647" "7566647" "subst" "0" "02327" "DSP_000712" "g.7566647T>C" "" "" "" "DSP(NM_004415.4):c.977T>C (p.L326P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948753" "0" "90" "6" "7568676" "7568676" "subst" "4.06431E-6" "02325" "DSP_000948" "g.7568676C>T" "" "" "" "DSP(NM_004415.4):c.1273C>T (p.R425*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948754" "0" "10" "6" "7569559" "7569559" "subst" "0" "02330" "DSP_000949" "g.7569559G>A" "" "" "" "DSP(NM_004415.2):c.1560G>A (p.V520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948755" "0" "50" "6" "7569564" "7569564" "subst" "0" "02330" "DSP_000950" "g.7569564T>A" "" "" "" "DSP(NM_004415.2):c.1565T>A (p.L522H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948756" "0" "50" "6" "7576568" "7576568" "subst" "0" "02329" "DSP_000953" "g.7576568A>G" "" "" "" "DSP(NM_004415.2):c.2672A>G (p.Y891C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948757" "0" "30" "6" "7576669" "7576669" "subst" "0.000398115" "02326" "DSP_000631" "g.7576669C>T" "" "" "" "DSP(NM_004415.2):c.2773C>T (p.R925W), DSP(NM_004415.4):c.2773C>T (p.R925W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948758" "0" "50" "6" "7578092" "7578092" "subst" "0" "02326" "DSP_000906" "g.7578092G>T" "" "" "" "DSP(NM_004415.2):c.2958G>T (p.Q986H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948760" "0" "50" "6" "7580186" "7580186" "subst" "0" "02330" "DSP_000954" "g.7580186A>G" "" "" "" "DSP(NM_004415.2):c.3763A>G (p.R1255G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948761" "0" "10" "6" "7580323" "7580323" "subst" "0" "02330" "DSP_000910" "g.7580323G>A" "" "" "" "DSP(NM_004415.2):c.3900G>A (p.Q1300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948762" "0" "50" "6" "7580328" "7580328" "subst" "3.66393E-5" "02325" "DSP_000728" "g.7580328G>A" "" "" "" "DSP(NM_004415.4):c.3905G>A (p.R1302H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948763" "0" "10" "6" "7583050" "7583050" "subst" "0.000215234" "02330" "DSP_000758" "g.7583050G>A" "" "" "" "DSP(NM_004415.2):c.5555G>A (p.R1852H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948764" "0" "70" "6" "7583295" "7583295" "subst" "0" "02327" "DSP_000248" "g.7583295C>T" "" "" "" "DSP(NM_004415.2):c.5800C>T (p.R1934*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948765" "0" "50" "6" "7583830" "7583830" "subst" "4.06161E-6" "02330" "DSP_000955" "g.7583830A>G" "" "" "" "DSP(NM_004415.2):c.6335A>G (p.K2112R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948766" "0" "30" "6" "7583855" "7583855" "subst" "3.6564E-5" "02326" "DSP_000856" "g.7583855C>T" "" "" "" "DSP(NM_004415.2):c.6360C>T (p.T2120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948768" "0" "10" "6" "7585334" "7585334" "subst" "8.1314E-6" "02330" "DSP_000956" "g.7585334G>A" "" "" "" "DSP(NM_004415.2):c.7839G>A (p.L2613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948769" "0" "50" "6" "7585351" "7585351" "subst" "0" "02326" "DSP_000957" "g.7585351T>C" "" "" "" "DSP(NM_004415.2):c.7856T>C (p.I2619T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948770" "0" "50" "6" "7585678" "7585678" "subst" "0" "02325" "DSP_000958" "g.7585678A>T" "" "" "" "DSP(NM_004415.4):c.8183A>T (p.E2728V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948771" "0" "50" "6" "7585887" "7585887" "subst" "0" "02325" "DSP_000698" "g.7585887A>T" "" "" "" "DSP(NM_004415.4):c.8392A>T (p.T2798S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948772" "0" "10" "6" "7585950" "7585950" "subst" "0.0020843" "02330" "DSP_000277" "g.7585950A>C" "" "" "" "DSP(NM_004415.2):c.8455A>C (p.M2819L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948773" "0" "10" "6" "7585976" "7585976" "subst" "0.00160782" "02326" "DSP_000701" "g.7585976C>T" "" "" "" "DSP(NM_004415.2):c.8481C>T (p.S2827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000952002" "0" "50" "6" "7571670" "7571670" "subst" "0" "03779" "DSP_000951" "g.7571670C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000952156" "0" "50" "6" "7574464" "7574464" "subst" "0" "03779" "DSP_000952" "g.7574464T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000957760" "0" "70" "6" "7584061" "7584061" "subst" "2.43649E-5" "00006" "DSP_000961" "g.7584061G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7583828G>A" "" "VUS" "" "0000957772" "0" "50" "6" "7585825" "7585825" "subst" "4.06128E-6" "00006" "DSP_000963" "g.7585825C>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7585592C>A" "" "VUS" "" "0000957773" "0" "50" "6" "7542236" "7542236" "subst" "0.00160304" "00006" "DSP_000002" "g.7542236G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7542003G>A" "" "VUS" "" "0000957775" "0" "70" "6" "7583551" "7583551" "subst" "0" "00006" "DSP_000960" "g.7583551C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7583318C>T" "" "likely pathogenic" "" "0000957796" "0" "50" "6" "7556022" "7556022" "subst" "0.000142246" "00006" "DSP_000094" "g.7556022G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7555789G>A" "" "VUS" "" "0000957800" "0" "70" "6" "7580597" "7580597" "subst" "4.06329E-6" "00006" "DSP_000959" "g.7580597C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7580364C>T" "" "likely pathogenic" "" "0000957821" "0" "70" "6" "7585486" "7585486" "subst" "0" "00006" "DSP_000962" "g.7585486C>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7585253C>A" "" "likely pathogenic" "" "0000957860" "0" "50" "6" "7556022" "7556022" "subst" "0.000142246" "00006" "DSP_000094" "g.7556022G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.7555789G>A" "" "VUS" "" "0000964230" "0" "30" "6" "7542250" "7542250" "subst" "0" "02330" "DSP_000964" "g.7542250C>T" "" "" "" "DSP(NM_004415.2):c.102C>T (p.G34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964231" "0" "50" "6" "7542265" "7542265" "subst" "1.11094E-5" "02330" "DSP_000965" "g.7542265G>T" "" "" "" "DSP(NM_004415.2):c.117G>T (p.R39S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964232" "0" "50" "6" "7555988" "7555988" "subst" "4.06197E-6" "01804" "DSP_000966" "g.7555988A>G" "" "" "" "DSP(NM_001008844.1):c.208A>G (p.(Thr70Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964234" "0" "50" "6" "7569543" "7569543" "subst" "4.06164E-6" "02327" "DSP_000967" "g.7569543C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964235" "0" "90" "6" "7572302" "7572302" "subst" "0" "02326" "DSP_000569" "g.7572302G>A" "" "" "" "DSP(NM_004415.2):c.2130+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964236" "0" "10" "6" "7579930" "7579930" "subst" "0.000138711" "02326" "DSP_000650" "g.7579930C>T" "" "" "" "DSP(NM_004415.2):c.3507C>T (p.Y1169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964237" "0" "10" "6" "7579963" "7579963" "subst" "2.85549E-5" "02330" "DSP_000968" "g.7579963A>G" "" "" "" "DSP(NM_004415.2):c.3540A>G (p.E1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964238" "0" "50" "6" "7580067" "7580067" "subst" "8.13114E-6" "02326" "DSP_000652" "g.7580067A>G" "" "" "" "DSP(NM_004415.2):c.3644A>G (p.N1215S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964239" "0" "50" "6" "7580129" "7580129" "subst" "6.10869E-5" "02330" "DSP_000293" "g.7580129A>G" "" "" "" "DSP(NM_004415.2):c.3706A>G (p.R1236G), DSP(NM_004415.4):c.3706A>G (p.(Arg1236Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964240" "0" "50" "6" "7580414" "7580414" "subst" "0" "02327" "DSP_000969" "g.7580414A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964242" "0" "90" "6" "7580621" "7580621" "subst" "4.06303E-6" "02325" "DSP_000224" "g.7580621C>T" "" "" "" "DSP(NM_004415.2):c.4198C>T (p.R1400*), DSP(NM_004415.4):c.4198C>T (p.R1400*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000964244" "0" "50" "6" "7580981" "7580981" "subst" "4.49013E-5" "02326" "DSP_000970" "g.7580981A>G" "" "" "" "DSP(NM_004415.2):c.4558A>G (p.S1520G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964245" "0" "50" "6" "7581173" "7581173" "subst" "0" "02330" "DSP_000971" "g.7581173G>T" "" "" "" "DSP(NM_004415.2):c.4750G>T (p.A1584S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964246" "0" "50" "6" "7581738" "7581738" "subst" "0" "02327" "DSP_000972" "g.7581738A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964249" "0" "50" "6" "7583419" "7583419" "subst" "0" "02327" "DSP_000973" "g.7583419T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964250" "0" "50" "6" "7583497" "7583497" "subst" "0" "02330" "DSP_000974" "g.7583497T>A" "" "" "" "DSP(NM_004415.2):c.6002T>A (p.V2001E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964251" "0" "10" "6" "7583735" "7583735" "subst" "2.03336E-5" "02330" "DSP_000975" "g.7583735C>T" "" "" "" "DSP(NM_004415.2):c.6240C>T (p.F2080=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000964252" "0" "50" "6" "7584430" "7584430" "subst" "0" "02326" "DSP_000976" "g.7584430T>C" "" "" "" "DSP(NM_004415.2):c.6935T>C (p.V2312A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964253" "0" "50" "6" "7585144" "7585144" "subst" "8.12137E-6" "02327" "DSP_000921" "g.7585144G>A" "" "" "" "DSP(NM_004415.2):c.7649G>A (p.G2550D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000964254" "0" "30" "6" "7585226" "7585226" "subst" "0" "02330" "DSP_000977" "g.7585226C>A" "" "" "" "DSP(NM_004415.2):c.7731C>A (p.V2577=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000964255" "0" "50" "6" "7586019" "7586019" "subst" "4.16767E-6" "02326" "DSP_000978" "g.7586019C>T" "" "" "" "DSP(NM_004415.2):c.8524C>T (p.R2842C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977335" "0" "10" "6" "7542229" "7542229" "subst" "4.80815E-6" "02330" "DSP_000979" "g.7542229C>G" "" "" "" "DSP(NM_004415.2):c.81C>G (p.R27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977336" "0" "10" "6" "7556063" "7556063" "subst" "0.0235482" "01804" "DSP_000006" "g.7556063C>T" "" "" "" "DSP(NM_004415.2):c.273+10C>T, DSP(NM_004415.4):c.273+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977337" "0" "50" "6" "7565733" "7565733" "subst" "4.06488E-6" "02330" "DSP_000980" "g.7565733C>G" "" "" "" "DSP(NM_004415.2):c.919C>G (p.Q307E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977338" "0" "50" "6" "7572208" "7572208" "subst" "2.0326E-5" "02330" "DSP_000981" "g.7572208A>G" "" "" "" "DSP(NM_004415.2):c.2037A>G (p.I679M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977339" "0" "30" "6" "7574938" "7574938" "subst" "0.00130829" "01804" "DSP_000194" "g.7574938C>T" "" "" "" "DSP(NM_004415.2):c.2346C>T (p.D782=), DSP(NM_004415.4):c.2346C>T (p.(Asp782=), p.D782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977340" "0" "30" "6" "7576667" "7576667" "subst" "2.43726E-5" "02326" "DSP_000905" "g.7576667T>C" "" "" "" "DSP(NM_004415.2):c.2771T>C (p.M924T), DSP(NM_004415.4):c.2771T>C (p.M924T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977341" "0" "10" "6" "7579519" "7579519" "subst" "3.25433E-5" "02330" "DSP_000982" "g.7579519C>T" "" "" "" "DSP(NM_004415.2):c.3096C>T (p.T1032=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977343" "0" "50" "6" "7579985" "7579985" "subst" "8.56088E-5" "01804" "DSP_000443" "g.7579985T>C" "" "" "" "DSP(NM_004415.2):c.3562T>C (p.Y1188H), DSP(NM_004415.4):c.3562T>C (p.(Tyr1188His), p.Y1188H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977344" "0" "70" "6" "7580222" "7580222" "subst" "0" "02327" "DSP_000057" "g.7580222C>T" "" "" "" "DSP(NM_004415.4):c.3799C>T (p.R1267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977345" "0" "50" "6" "7580285" "7580285" "subst" "0.000276695" "01804" "DSP_000217" "g.7580285A>C" "" "" "" "DSP(NM_004415.2):c.3862A>C (p.K1288Q), DSP(NM_004415.4):c.3862A>C (p.(Lys1288Gln), p.K1288Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977346" "0" "10" "6" "7580386" "7580386" "subst" "0.0129344" "01804" "DSP_000116" "g.7580386G>A" "" "" "" "DSP(NM_004415.2):c.3963G>A (p.Q1321=), DSP(NM_004415.4):c.3963G>A (p.(Gln1321=), p.Q1321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977347" "0" "90" "6" "7580422" "7580425" "del" "0" "02330" "DSP_000983" "g.7580422_7580425del" "" "" "" "DSP(NM_004415.2):c.3999_4002delGTTT (p.E1333Dfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000977348" "0" "30" "6" "7581001" "7581001" "subst" "0.0106141" "01804" "DSP_000062" "g.7581001C>A" "" "" "" "DSP(NM_004415.2):c.4578C>A (p.N1526K), DSP(NM_004415.4):c.4578C>A (p.(Asn1526Lys), p.N1526K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977349" "0" "10" "6" "7581196" "7581196" "subst" "0.0139939" "01804" "DSP_000065" "g.7581196G>A" "" "" "" "DSP(NM_004415.2):c.4773G>A (p.R1591=), DSP(NM_004415.4):c.4773G>A (p.(Arg1591=), p.R1591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977350" "0" "50" "6" "7581198" "7581198" "subst" "0.000224501" "02330" "DSP_000233" "g.7581198A>G" "" "" "" "DSP(NM_004415.2):c.4775A>G (p.K1592R), DSP(NM_004415.4):c.4775A>G (p.K1592R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977351" "0" "50" "6" "7581338" "7581338" "subst" "4.08073E-5" "02326" "DSP_000235" "g.7581338G>A" "" "" "" "DSP(NM_004415.2):c.4915G>A (p.V1639M), DSP(NM_004415.4):c.4915G>A (p.V1639M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977352" "0" "70" "6" "7581631" "7581632" "del" "0" "02326" "DSP_000240" "g.7581631_7581632del" "" "" "" "DSP(NM_004415.2):c.5208_5209delAG (p.G1737Tfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977353" "0" "30" "6" "7581641" "7581641" "subst" "0.00141097" "01804" "DSP_000120" "g.7581641G>A" "" "" "" "DSP(NM_004415.2):c.5218G>A (p.E1740K, p.(Glu1740Lys)), DSP(NM_004415.4):c.5218G>A (p.E1740K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977354" "0" "50" "6" "7581747" "7581747" "subst" "6.50994E-5" "01804" "DSP_000068" "g.7581747G>T" "" "" "" "DSP(NM_004415.2):c.5324G>T (p.R1775I), DSP(NM_004415.4):c.5324G>T (p.(Arg1775Ile), p.R1775I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977355" "0" "50" "6" "7583802" "7583802" "subst" "0.00013402" "02330" "DSP_000839" "g.7583802A>G" "" "" "" "DSP(NM_004415.2):c.6307A>G (p.K2103E), DSP(NM_004415.4):c.6307A>G (p.K2103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977356" "0" "50" "6" "7583863" "7583863" "subst" "1.62509E-5" "02325" "DSP_000678" "g.7583863G>A" "" "" "" "DSP(NM_004415.2):c.6368G>A (p.R2123H), DSP(NM_004415.4):c.6368G>A (p.R2123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977357" "0" "50" "6" "7583944" "7583944" "subst" "4.06379E-6" "01804" "DSP_000122" "g.7583944C>G" "" "" "" "DSP(NM_004415.2):c.6449C>G (p.A2150G), DSP(NM_004415.4):c.6449C>G (p.(Ala2150Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977358" "0" "50" "6" "7583946" "7583946" "subst" "6.90945E-5" "02325" "DSP_000680" "g.7583946C>T" "" "" "" "DSP(NM_004415.2):c.6451C>T (p.R2151W), DSP(NM_004415.4):c.6451C>T (p.R2151W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977359" "0" "50" "6" "7584730" "7584730" "subst" "8.12427E-6" "02325" "DSP_000984" "g.7584730C>A" "" "" "" "DSP(NM_004415.4):c.7235C>A (p.T2412N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977362" "0" "50" "6" "7585392" "7585392" "subst" "0" "01804" "DSP_000985" "g.7585392A>T" "" "" "" "DSP(NM_004415.4):c.7897A>T (p.(Ile2633Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977363" "0" "10" "6" "7585411" "7585411" "subst" "0.000862848" "02326" "DSP_000082" "g.7585411G>A" "" "" "" "DSP(NM_004415.2):c.7916G>A (p.R2639Q), DSP(NM_004415.4):c.7916G>A (p.R2639Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977364" "0" "10" "6" "7585472" "7585472" "subst" "0" "02330" "DSP_000986" "g.7585472C>T" "" "" "" "DSP(NM_004415.2):c.7977C>T (p.G2659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977365" "0" "50" "6" "7585489" "7585489" "subst" "4.47686E-5" "01804" "DSP_000538" "g.7585489C>T" "" "" "" "DSP(NM_004415.2):c.7994C>T (p.(Thr2665Met), p.T2665M), DSP(NM_004415.4):c.7994C>T (p.T2665M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977366" "0" "10" "6" "7585670" "7585670" "subst" "0.0462358" "01804" "DSP_000084" "g.7585670C>A" "" "" "" "DSP(NM_004415.2):c.8175C>A (p.R2725=), DSP(NM_004415.4):c.8175C>A (p.(Arg2725=), p.R2725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977368" "0" "30" "6" "7585967" "7585978" "del" "0" "01804" "DSP_000882" "g.7585967_7585978del" "" "" "" "DSP(NM_004415.2):c.8472_8483delGTCCCGCTCCGG (p.S2843_R2846del), DSP(NM_004415.4):c.8472_8483del (p.(Ser2843_Arg2846del)), DSP(NM_004415.4):c.8472_8..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985218" "0" "30" "6" "7575674" "7575674" "subst" "0" "03779" "DSP_000987" "g.7575674A>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0000987737" "0" "70" "6" "7574889" "7574889" "subst" "0" "03779" "DSP_000988" "g.7574889G>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1417627909" "0" "" "" "" "" "likely pathogenic" "" "0000989336" "0" "90" "6" "7583536" "7583536" "del" "0" "03779" "DSP_000989" "g.7583536del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000989488" "0" "50" "6" "7580889" "7580889" "subst" "0" "03779" "DSP_000991" "g.7580889T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000989687" "0" "90" "6" "7572172" "7572172" "del" "0" "02515" "DSP_000990" "g.7572172del" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.7571939del" "" "pathogenic" "" "0000989688" "0" "50" "6" "7581485" "7581485" "subst" "5.69861E-5" "02515" "DSP_000837" "g.7581485G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs757753880" "0" "" "" "g.7581252G>A" "" "VUS" "" "0000989689" "0" "50" "6" "7583479" "7583479" "subst" "0" "02515" "DSP_000854" "g.7583479T>C" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs794728128" "0" "" "" "g.7583246T>C" "" "VUS" "" "0000989690" "0" "50" "6" "7583557" "7583557" "subst" "2.43861E-5" "02515" "DSP_000992" "g.7583557C>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs760673242" "0" "" "" "g.7583324C>G" "" "VUS" "" "0000989822" "0" "50" "6" "7556058" "7556058" "subst" "0.000277823" "02515" "DSP_000137" "g.7556058G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs200473206" "0" "" "" "g.7555825G>A" "" "VUS" "" "0000995872" "0" "10" "6" "7542160" "7542160" "subst" "0.00517577" "02330" "DSP_000584" "g.7542160C>G" "" "" "" "DSP(NM_004415.2):c.12C>G (p.N4K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995873" "0" "50" "6" "7542230" "7542230" "subst" "4.80899E-6" "01804" "DSP_000706" "g.7542230T>G" "" "" "" "DSP(NM_004415.2):c.82T>G (p.Y28D, p.(Tyr28Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995874" "0" "50" "6" "7562954" "7562954" "subst" "2.84301E-5" "02330" "DSP_000993" "g.7562954G>A" "" "" "" "DSP(NM_004415.2):c.667G>A (p.G223S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995876" "0" "30" "6" "7567688" "7567688" "subst" "0.000191391" "01804" "DSP_000833" "g.7567688T>C" "" "" "" "DSP(NM_004415.2):c.1140+6T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995877" "0" "50" "6" "7568095" "7568095" "subst" "1.6261E-5" "01804" "DSP_000994" "g.7568095A>C" "" "" "" "DSP(NM_004415.2):c.1222A>C (p.(Asn408His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995878" "0" "50" "6" "7569506" "7569506" "subst" "0" "01804" "DSP_000995" "g.7569506A>T" "" "" "" "DSP(NM_004415.2):c.1507A>T (p.(Met503Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995879" "0" "70" "6" "7570669" "7570669" "subst" "0" "02326" "DSP_000996" "g.7570669G>T" "" "" "" "DSP(NM_004415.2):c.1575-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995880" "0" "50" "6" "7571629" "7571629" "subst" "1.21939E-5" "02325" "DSP_000997" "g.7571629G>A" "" "" "" "DSP(NM_004415.4):c.1715G>A (p.R572Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995881" "0" "30" "6" "7577293" "7577293" "subst" "0" "02326" "DSP_000428" "g.7577293A>C" "" "" "" "DSP(NM_004415.2):c.2877+18A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995882" "0" "30" "6" "7578007" "7578007" "subst" "0" "02330" "DSP_000998" "g.7578007T>C" "" "" "" "DSP(NM_004415.2):c.2878-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995883" "0" "50" "6" "7579985" "7579985" "subst" "8.56088E-5" "02326" "DSP_000443" "g.7579985T>C" "" "" "" "DSP(NM_004415.2):c.3562T>C (p.Y1188H), DSP(NM_004415.4):c.3562T>C (p.(Tyr1188His), p.Y1188H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995884" "0" "70" "6" "7581750" "7581753" "del" "0" "02325" "DSP_000770" "g.7581750_7581753del" "" "" "" "DSP(NM_004415.4):c.5327_5330delAGAG (p.E1776Gfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995885" "0" "50" "6" "7583137" "7583137" "subst" "4.06329E-6" "01804" "DSP_000999" "g.7583137T>C" "" "" "" "DSP(NM_004415.2):c.5642T>C (p.(Ile1881Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995886" "0" "50" "6" "7583174" "7583174" "subst" "0" "02330" "DSP_001000" "g.7583174C>G" "" "" "" "DSP(NM_004415.2):c.5679C>G (p.N1893K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995887" "0" "10" "6" "7583486" "7583486" "subst" "6.09256E-5" "02330" "DSP_001001" "g.7583486G>A" "" "" "" "DSP(NM_004415.2):c.5991G>A (p.G1997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995889" "0" "30" "6" "7583962" "7583962" "subst" "0" "01804" "DSP_001002" "g.7583962G>A" "" "" "" "DSP(NM_004415.2):c.6467G>A (p.(Arg2156Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995891" "0" "30" "6" "7584663" "7584663" "subst" "0" "01804" "DSP_000530" "g.7584663A>G" "" "" "" "DSP(NM_004415.2):c.7168A>G (p.I2390V, p.(Ile2390Val)), DSP(NM_004415.4):c.7168A>G (p.I2390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995892" "0" "50" "6" "7584663" "7584663" "subst" "0" "02325" "DSP_000530" "g.7584663A>G" "" "" "" "DSP(NM_004415.2):c.7168A>G (p.I2390V, p.(Ile2390Val)), DSP(NM_004415.4):c.7168A>G (p.I2390V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995894" "0" "50" "6" "7585230" "7585230" "subst" "1.21818E-5" "02330" "DSP_001003" "g.7585230G>A" "" "" "" "DSP(NM_004415.2):c.7735G>A (p.D2579N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995896" "0" "50" "6" "7585679" "7585679" "subst" "0" "02326" "DSP_001004" "g.7585679G>C" "" "" "" "DSP(NM_004415.2):c.8184G>C (p.E2728D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995899" "0" "50" "6" "7585885" "7585885" "subst" "3.65607E-5" "01804" "DSP_000827" "g.7585885T>C" "" "" "" "DSP(NM_004415.2):c.8390T>C (p.I2797T, p.(Ile2797Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014232" "0" "50" "6" "7568815" "7568815" "subst" "8.13683E-6" "02325" "DSP_000394" "g.7568815A>G" "" "" "" "DSP(NM_004415.2):c.1412A>G (p.Q471R), DSP(NM_004415.4):c.1412A>G (p.Q471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014233" "0" "10" "6" "7574314" "7574314" "subst" "3.25182E-5" "02330" "DSP_001005" "g.7574314G>C" "" "" "" "DSP(NM_004415.2):c.2131-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014234" "0" "50" "6" "7574448" "7574448" "subst" "1.21897E-5" "02330" "DSP_000572" "g.7574448G>A" "" "" "" "DSP(NM_004415.2):c.2260G>A (p.E754K), DSP(NM_004415.4):c.2260G>A (p.E754K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014235" "0" "50" "6" "7581489" "7581489" "subst" "4.0708E-6" "02325" "DSP_001007" "g.7581489T>C" "" "" "" "DSP(NM_004415.4):c.5066T>C (p.I1689T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014238" "0" "90" "6" "7583332" "7583332" "del" "0" "02325" "DSP_001008" "g.7583332del" "" "" "" "DSP(NM_004415.4):c.5837delC (p.P1946Hfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014239" "0" "50" "6" "7584295" "7584295" "subst" "4.06157E-6" "02330" "DSP_001009" "g.7584295C>T" "" "" "" "DSP(NM_004415.2):c.6800C>T (p.T2267I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014240" "0" "50" "6" "7584346" "7584346" "subst" "8.12137E-6" "02325" "DSP_001010" "g.7584346G>A" "" "" "" "DSP(NM_004415.4):c.6851G>A (p.R2284Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014241" "0" "30" "6" "7584572" "7584572" "subst" "1.62437E-5" "02330" "DSP_001011" "g.7584572C>T" "" "" "" "DSP(NM_004415.2):c.7077C>T (p.I2359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014242" "0" "50" "6" "7586062" "7586062" "subst" "4.085E-6" "02325" "DSP_001012" "g.7586062C>T" "" "" "" "DSP(NM_004415.4):c.8567C>T (p.S2856F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016077" "0" "50" "6" "7574996" "7574996" "subst" "4.0618E-6" "03779" "DSP_001006" "g.7574996G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs770105310" "0" "" "" "" "" "VUS" "" "0001018823" "0" "50" "6" "7583296" "7583296" "subst" "4.07621E-6" "03779" "DSP_000505" "g.7583296G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1471613374" "0" "" "" "" "" "VUS" "" "0001022171" "0" "70" "6" "7576692" "7576692" "subst" "0" "04796" "DSP_000866" "g.7576692A>G" "" "" "" "" "effect on RNA inclusion of intron sequences" "In vitro (cloned)" "" "" "0" "" "" "g.7576459A>G" "" "likely pathogenic" "" "0001022178" "0" "50" "6" "7580032" "7580033" "delins" "0" "04796" "DSP_000651" "g.7580032_7580033delinsAG" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.7579799_7579800delinsAG" "" "VUS" "" "0001025258" "0" "50" "6" "7572296" "7572296" "subst" "1.62811E-5" "02330" "DSP_001013" "g.7572296C>T" "" "" "" "DSP(NM_004415.2):c.2125C>T (p.L709F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025259" "0" "50" "6" "7576570" "7576570" "subst" "0" "02330" "DSP_001014" "g.7576570C>T" "" "" "" "DSP(NM_004415.2):c.2674C>T (p.R892C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025260" "0" "30" "6" "7576579" "7576579" "subst" "0.000105659" "02326" "DSP_000203" "g.7576579T>C" "" "" "" "DSP(NM_004415.2):c.2683T>C (p.Y895H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025261" "0" "50" "6" "7578067" "7578067" "subst" "1.21835E-5" "02330" "DSP_000638" "g.7578067T>A" "" "" "" "DSP(NM_004415.2):c.2933T>A (p.I978K), DSP(NM_004415.4):c.2933T>A (p.I978K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025263" "0" "90" "6" "7581001" "7581001" "del" "0" "02330" "DSP_001015" "g.7581001del" "" "" "" "DSP(NM_004415.2):c.4578delC (p.N1526Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025264" "0" "50" "6" "7581384" "7581384" "subst" "2.8491E-5" "02325" "DSP_000066" "g.7581384T>C" "" "" "" "DSP(NM_004415.2):c.4961T>C (p.L1654P), DSP(NM_004415.4):c.4961T>C (p.L1654P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025265" "0" "50" "6" "7581420" "7581420" "subst" "4.47296E-5" "02330" "DSP_000730" "g.7581420G>A" "" "" "" "DSP(NM_004415.2):c.4997G>A (p.R1666Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025266" "0" "30" "6" "7581747" "7581747" "subst" "6.50994E-5" "02330" "DSP_000068" "g.7581747G>T" "" "" "" "DSP(NM_004415.2):c.5324G>T (p.R1775I), DSP(NM_004415.4):c.5324G>T (p.(Arg1775Ile), p.R1775I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025268" "0" "30" "6" "7583944" "7583944" "subst" "4.06379E-6" "02327" "DSP_000122" "g.7583944C>G" "" "" "" "DSP(NM_004415.2):c.6449C>G (p.A2150G), DSP(NM_004415.4):c.6449C>G (p.(Ala2150Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025269" "0" "50" "6" "7584154" "7584154" "subst" "0" "02325" "DSP_000943" "g.7584154C>A" "" "" "" "DSP(NM_004415.2):c.6659C>A (p.T2220N), DSP(NM_004415.4):c.6659C>A (p.T2220N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025270" "0" "30" "6" "7584425" "7584425" "subst" "0" "02330" "DSP_000526" "g.7584425A>G" "" "" "" "DSP(NM_004415.2):c.6930A>G (p.L2310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025271" "0" "50" "6" "7584586" "7584586" "subst" "0" "02325" "DSP_001016" "g.7584586G>T" "" "" "" "DSP(NM_004415.4):c.7091G>T (p.G2364V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025272" "0" "30" "6" "7584620" "7584620" "subst" "6.90417E-5" "02326" "DSP_000528" "g.7584620G>A" "" "" "" "DSP(NM_004415.2):c.7125G>A (p.G2375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025274" "0" "50" "6" "7585726" "7585726" "subst" "0" "02325" "DSP_000543" "g.7585726G>A" "" "" "" "DSP(NM_004415.2):c.8231G>A (p.R2744K), DSP(NM_004415.4):c.8231G>A (p.R2744K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025275" "0" "50" "6" "7586085" "7586085" "subst" "1.63321E-5" "02327" "DSP_001017" "g.7586085T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029869" "0" "50" "6" "7585489" "7585489" "subst" "4.47686E-5" "03779" "DSP_000538" "g.7585489C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs151309106" "0" "" "" "" "" "VUS" "" "0001029994" "0" "90" "6" "7559514" "7559514" "subst" "0" "03779" "DSP_000789" "g.7559514C>T" "" "" "" "" "" "Unknown" "" "rs397516943" "0" "" "" "" "" "pathogenic" "" "0001030927" "0" "50" "6" "7585576" "7585576" "subst" "0" "03779" "DSP_001019" "g.7585576C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001030931" "0" "50" "6" "7575708" "7575708" "subst" "0" "03779" "DSP_001018" "g.7575708C>G" "" "" "" "" "" "Unknown" "" "rs794728118" "0" "" "" "" "" "VUS" "" "0001035899" "0" "10" "6" "7542253" "7542253" "subst" "0.0053285" "01804" "DSP_000091" "g.7542253G>A" "" "" "" "DSP(NM_004415.2):c.105G>A (p.G35=), DSP(NM_004415.4):c.105G>A (p.(Gly35=), p.G35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035900" "0" "30" "6" "7559597" "7559597" "subst" "3.25288E-5" "02326" "DSP_000591" "g.7559597C>T" "" "" "" "DSP(NM_004415.2):c.561C>T (p.V187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035901" "0" "30" "6" "7563983" "7563983" "subst" "0.000792026" "01804" "DSP_000597" "g.7563983T>A" "" "" "" "DSP(NM_004415.2):c.741T>A (p.A247=), DSP(NM_004415.4):c.741T>A (p.(Ala247Ala), p.A247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035902" "0" "50" "6" "7571754" "7571754" "subst" "1.62591E-5" "02330" "DSP_001020" "g.7571754G>A" "" "" "" "DSP(NM_004415.2):c.1840G>A (p.D614N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035903" "0" "50" "6" "7572204" "7572204" "subst" "8.12995E-6" "02330" "DSP_001021" "g.7572204A>G" "" "" "" "DSP(NM_004415.2):c.2033A>G (p.Q678R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035904" "0" "30" "6" "7580129" "7580129" "subst" "6.10869E-5" "01804" "DSP_000293" "g.7580129A>G" "" "" "" "DSP(NM_004415.2):c.3706A>G (p.R1236G), DSP(NM_004415.4):c.3706A>G (p.(Arg1236Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035905" "0" "50" "6" "7580286" "7580286" "subst" "1.22063E-5" "02325" "DSP_000218" "g.7580286A>G" "" "" "" "DSP(NM_004415.2):c.3863A>G (p.K1288R), DSP(NM_004415.4):c.3863A>G (p.K1288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035906" "0" "50" "6" "7580445" "7580445" "subst" "5.2929E-5" "02330" "DSP_000327" "g.7580445G>A" "" "" "" "DSP(NM_004415.2):c.4022G>A (p.R1341H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035907" "0" "10" "6" "7580621" "7580621" "subst" "0" "02325" "DSP_000466" "g.7580621C>A" "" "" "" "DSP(NM_004415.2):c.4198C>A (p.R1400=), DSP(NM_004415.4):c.4198C>A (p.R1400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035908" "0" "90" "6" "7580621" "7580621" "subst" "4.06303E-6" "02330" "DSP_000224" "g.7580621C>T" "" "" "" "DSP(NM_004415.2):c.4198C>T (p.R1400*), DSP(NM_004415.4):c.4198C>T (p.R1400*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001035909" "0" "50" "6" "7580870" "7580870" "subst" "4.08103E-6" "02325" "DSP_000475" "g.7580870A>T" "" "" "" "DSP(NM_004415.2):c.4447A>T (p.I1483L), DSP(NM_004415.4):c.4447A>T (p.I1483L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035910" "0" "30" "6" "7581094" "7581094" "subst" "1.22439E-5" "02326" "DSP_001022" "g.7581094G>A" "" "" "" "DSP(NM_004415.2):c.4671G>A (p.T1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035912" "0" "50" "6" "7583112" "7583112" "subst" "8.52972E-5" "02330" "DSP_000247" "g.7583112C>T" "" "" "" "DSP(NM_004415.2):c.5617C>T (p.R1873C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035913" "0" "50" "6" "7583289" "7583289" "subst" "4.48193E-5" "02325" "DSP_001023" "g.7583289C>T" "" "" "" "DSP(NM_004415.4):c.5794C>T (p.R1932C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035915" "0" "30" "6" "7583570" "7583570" "subst" "0" "01804" "DSP_000672" "g.7583570T>A" "" "" "" "DSP(NM_004415.2):c.6075T>A (p.P2025=), DSP(NM_004415.4):c.6075T>A (p.(Pro2025=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035921" "0" "50" "6" "7585084" "7585084" "subst" "2.84241E-5" "01804" "DSP_001024" "g.7585084T>C" "" "" "" "DSP(NM_004415.4):c.7589T>C (p.(Ile2530Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035922" "0" "50" "6" "7585240" "7585240" "subst" "1.21818E-5" "01804" "DSP_000336" "g.7585240T>G" "" "" "" "DSP(NM_004415.2):c.7745T>G (p.F2582C), DSP(NM_004415.4):c.7745T>G (p.(Phe2582Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035923" "0" "30" "6" "7585976" "7585987" "del" "0" "02326" "DSP_000828" "g.7585976_7585987del" "" "" "" "DSP(NM_004415.2):c.8481_8492delCGGCTCCCGCTC (p.S2843_R2846del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035924" "0" "30" "6" "7586034" "7586034" "subst" "8.28906E-6" "02330" "DSP_001025" "g.7586034A>C" "" "" "" "DSP(NM_004415.2):c.8539A>C (p.R2847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046075" "0" "50" "6" "7566614" "7566614" "subst" "4.07727E-6" "02325" "DSP_000384" "g.7566614G>A" "" "" "" "DSP(NM_004415.2):c.944G>A (p.R315H), DSP(NM_004415.4):c.944G>A (p.R315H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046076" "0" "30" "6" "7571738" "7571738" "subst" "8.12896E-6" "02326" "DSP_000716" "g.7571738A>G" "" "" "" "DSP(NM_004415.2):c.1824A>G (p.I608M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046077" "0" "50" "6" "7580043" "7580043" "subst" "0" "02325" "DSP_001026" "g.7580043G>A" "" "" "" "DSP(NM_004415.4):c.3620G>A (p.R1207K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046078" "0" "50" "6" "7580444" "7580444" "subst" "0" "02327" "DSP_001027" "g.7580444C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046079" "0" "90" "6" "7581743" "7581744" "del" "0" "02325" "DSP_001028" "g.7581743_7581744del" "" "" "" "DSP(NM_004415.4):c.5320_5321delCA (p.Q1774Efs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046080" "0" "70" "6" "7584435" "7584435" "dup" "0" "02325" "DSP_001029" "g.7584435dup" "" "" "" "DSP(NM_004415.4):c.6940dupG (p.E2314Gfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046999" "0" "70" "6" "7581676" "7581676" "del" "0" "03779" "DSP_001030" "g.7581676del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DSP ## Count = 1624 "{{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}}" "0000040312" "00006721" "90" "6478" "0" "6478" "0" "c.6478C>T" "r.(?)" "p.(Arg2160*)" "24" "" "0000052368" "00006721" "50" "1150" "0" "1150" "0" "c.1150G>C" "r.(?)" "p.(Glu384Gln)" "10" "" "0000052369" "00006721" "50" "5218" "0" "5218" "0" "c.5218G>A" "r.(?)" "p.(Glu1740Lys)" "23" "" "0000052374" "00006721" "50" "8455" "0" "8455" "0" "c.8455A>C" "r.(?)" "p.(Met2819Leu)" "24" "" "0000095127" "00006721" "90" "2848" "0" "2848" "0" "c.2848del" "r.(?)" "p.(Ile950Leufs*27)" "20" "" "0000095188" "00006721" "50" "5363" "0" "5363" "0" "c.5363A>G" "r.(?)" "p.(Gln1788Arg)" "23" "" "0000095228" "00006721" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Cys482Tyr)" "12" "" "0000095257" "00006721" "50" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Val1961Ile)" "24" "" "0000095286" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095302" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095338" "00006721" "50" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "17" "" "0000095353" "00006721" "50" "5178" "0" "5178" "0" "c.5178C>A" "r.(?)" "p.(Asn1726Lys)" "23" "" "0000095405" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095406" "00006721" "50" "3706" "0" "3706" "0" "c.3706A>G" "r.(?)" "p.(Arg1236Gly)" "23" "" "0000095416" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095439" "00006721" "50" "6482" "0" "6482" "0" "c.6482C>T" "r.(?)" "p.(Ser2161Phe)" "24" "" "0000095445" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095469" "00006721" "50" "7632" "0" "7632" "0" "c.7632T>G" "r.(?)" "p.(Phe2544Leu)" "24" "" "0000095514" "00006721" "50" "4411" "0" "4411" "0" "c.4411G>A" "r.(?)" "p.(Asp1471Asn)" "23" "" "0000095532" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095543" "00006721" "50" "8191" "0" "8191" "0" "c.8191T>C" "r.(?)" "p.(Tyr2731His)" "24" "" "0000095546" "00006721" "50" "4105" "0" "4105" "0" "c.4105G>A" "r.(?)" "p.(Glu1369Lys)" "23" "" "0000095560" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095562" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095579" "00006721" "50" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Val495Met)" "12" "" "0000095609" "00006721" "50" "5120" "0" "5120" "0" "c.5120A>G" "r.(?)" "p.(Gln1707Arg)" "23" "" "0000095617" "00006721" "50" "7350" "0" "7350" "0" "c.7350G>Y" "r.(?)" "p.(Lys2450Asn)" "24" "" "0000095621" "00006721" "50" "4411" "0" "4411" "0" "c.4411G>A" "r.(?)" "p.(Asp1471Asn)" "23" "" "0000095624" "00006721" "50" "4411" "0" "4411" "0" "c.4411G>A" "r.(?)" "p.(Asp1471Asn)" "23" "" "0000095634" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095650" "00006721" "50" "4411" "0" "4411" "0" "c.4411G>A" "r.(?)" "p.(Asp1471Asn)" "23" "" "0000095692" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095724" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095729" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000095793" "00006721" "50" "1" "0" "1" "0" "c.1dup" "r.(=)" "p.(Met1?)" "1" "" "0000095794" "00006721" "50" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "13" "" "0000095795" "00006721" "50" "3706" "0" "3706" "0" "c.3706A>G" "r.(?)" "p.(Arg1236Gly)" "23" "" "0000095796" "00006721" "50" "5881" "0" "5881" "0" "c.5881G>A" "r.(?)" "p.(Val1961Ile)" "24" "" "0000095797" "00006721" "50" "8191" "0" "8191" "0" "c.8191T>C" "r.(?)" "p.(Tyr2731His)" "24" "" "0000096481" "00006721" "70" "2836" "0" "2836" "0" "c.2836G>T" "r.(?)" "p.(Glu946*)" "20" "" "0000096526" "00006721" "50" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "17" "" "0000096527" "00006721" "50" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "17" "" "0000096559" "00006721" "50" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "2i" "" "0000096959" "00006721" "50" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.(?)" "2i" "" "0000217960" "00006721" "50" "6881" "0" "6881" "0" "c.6881C>G" "r.(?)" "p.(Ala2294Gly)" "" "" "0000218354" "00006721" "50" "4849" "0" "4849" "0" "c.4849C>A" "r.(?)" "p.(Gln1617Lys)" "" "" "0000218369" "00006721" "50" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Val439Ile)" "" "" "0000218378" "00006721" "50" "4071" "0" "4071" "0" "c.4071G>C" "r.(?)" "p.(Glu1357Asp)" "" "" "0000218390" "00006721" "50" "4996" "0" "4996" "0" "c.4996C>T" "r.(?)" "p.(Arg1666Trp)" "" "" "0000218407" "00006721" "50" "6028" "0" "6028" "0" "c.6028C>T" "r.(?)" "p.(Pro2010Ser)" "" "" "0000218409" "00006721" "50" "4621" "0" "4621" "0" "c.4621G>A" "r.(?)" "p.(Asp1541Asn)" "" "" "0000218411" "00006721" "50" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908His)" "" "" "0000218416" "00006721" "50" "5173" "0" "5173" "0" "c.5173C>T" "r.(?)" "p.(Arg1725Trp)" "" "" "0000218430" "00006721" "50" "4786" "0" "4786" "0" "c.4786G>A" "r.(?)" "p.(Glu1596Lys)" "" "" "0000218445" "00006721" "50" "557" "0" "557" "0" "c.557A>T" "r.(?)" "p.(His186Leu)" "" "" "0000218454" "00006721" "50" "7745" "0" "7745" "0" "c.7745T>G" "r.(?)" "p.(Phe2582Cys)" "" "" "0000218459" "00006721" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000218484" "00006721" "50" "8411" "0" "8411" "0" "c.8411A>G" "r.(?)" "p.(Glu2804Gly)" "" "" "0000218502" "00006721" "50" "4022" "0" "4022" "0" "c.4022G>A" "r.(?)" "p.(Arg1341His)" "" "" "0000235436" "00006721" "70" "1759" "0" "1772" "0" "c.1759_1772del" "r.(?)" "p.(Tyr587Glnfs*3)" "14" "" "0000246408" "00006721" "10" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Ile305Phe)" "" "" "0000246409" "00006721" "10" "4535" "0" "4535" "0" "c.4535A>G" "r.(?)" "p.(Tyr1512Cys)" "" "" "0000246410" "00006721" "10" "5498" "0" "5498" "0" "c.5498A>T" "r.(?)" "p.(Glu1833Val)" "" "" "0000246417" "00006721" "10" "2091" "0" "2091" "0" "c.2091=" "r.(=)" "p.(Gly697=)" "" "" "0000246433" "00006721" "10" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "" "" "0000246434" "00006721" "10" "3729" "0" "3729" "0" "c.3729A>G" "r.(?)" "p.(Ser1243=)" "" "" "0000246450" "00006721" "10" "4141" "0" "4141" "0" "c.4141A>T" "r.(?)" "p.(Thr1381Ser)" "" "" "0000246466" "00006721" "10" "3018" "0" "3018" "0" "c.3018A>G" "r.(?)" "p.(Leu1006=)" "" "" "0000246480" "00006721" "10" "6799" "0" "6799" "0" "c.6799A>T" "r.(?)" "p.(Thr2267Ser)" "" "" "0000246507" "00006721" "10" "422" "14" "422" "14" "c.422+14A>G" "r.(=)" "p.(=)" "" "" "0000246508" "00006721" "10" "1419" "18" "1419" "18" "c.1419+18A>C" "r.(=)" "p.(=)" "" "" "0000246513" "00006721" "30" "6432" "0" "6432" "0" "c.6432A>T" "r.(?)" "p.(Pro2144=)" "" "" "0000246523" "00006721" "70" "6393" "0" "6393" "0" "c.6393del" "r.(?)" "p.(Gly2133ValfsTer2)" "" "" "0000246527" "00006721" "50" "7196" "0" "7196" "0" "c.7196A>G" "r.(?)" "p.(Glu2399Gly)" "" "" "0000246531" "00006721" "50" "7168" "0" "7168" "0" "c.7168A>G" "r.(?)" "p.(Ile2390Val)" "" "" "0000246532" "00006721" "50" "8389" "0" "8389" "0" "c.8389A>G" "r.(?)" "p.(Ile2797Val)" "" "" "0000246533" "00006721" "50" "3862" "0" "3862" "0" "c.3862A>C" "r.(?)" "p.(Lys1288Gln)" "" "" "0000246534" "00006721" "50" "3952" "0" "3952" "0" "c.3952A>G" "r.(?)" "p.(Lys1318Glu)" "" "" "0000246535" "00006721" "50" "4521" "0" "4521" "0" "c.4521A>T" "r.(?)" "p.(Leu1507Phe)" "" "" "0000247840" "00006721" "10" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Ile305Phe)" "" "" "0000247843" "00006721" "10" "4535" "0" "4535" "0" "c.4535A>G" "r.(?)" "p.(Tyr1512Cys)" "" "" "0000247868" "00006721" "30" "5498" "0" "5498" "0" "c.5498A>T" "r.(?)" "p.(Glu1833Val)" "" "" "0000247912" "00006721" "10" "2091" "0" "2091" "0" "c.2091=" "r.(=)" "p.(Gly697=)" "" "" "0000248081" "00006721" "30" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "" "" "0000248133" "00006721" "70" "118" "0" "118" "0" "c.118del" "r.(?)" "p.(Met40CysfsTer8)" "" "" "0000248164" "00006721" "50" "8230" "0" "8230" "0" "c.8230A>G" "r.(?)" "p.(Arg2744Gly)" "" "" "0000248282" "00006721" "30" "2436" "16" "2436" "16" "c.2436+16A>G" "r.(=)" "p.(=)" "" "" "0000248417" "00006721" "10" "4141" "0" "4141" "0" "c.4141A>T" "r.(?)" "p.(Thr1381Ser)" "" "" "0000249479" "00006721" "50" "4117" "0" "4117" "0" "c.4117A>G" "r.(?)" "p.(Thr1373Ala)" "" "" "0000249543" "00006721" "30" "423" "-19" "423" "-19" "c.423-19A>T" "r.(=)" "p.(=)" "" "" "0000249607" "00006721" "90" "6687" "0" "6687" "0" "c.6687del" "r.(?)" "p.(Arg2229SerfsTer32)" "" "" "0000249653" "00006721" "90" "1705" "0" "1705" "0" "c.1705A>T" "r.(?)" "p.(Lys569Ter)" "" "" "0000249780" "00006721" "50" "1711" "0" "1711" "0" "c.1711A>G" "r.(?)" "p.(Met571Val)" "" "" "0000250622" "00006721" "10" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Ile305Phe)" "" "" "0000250625" "00006721" "10" "4535" "0" "4535" "0" "c.4535A>G" "r.(?)" "p.(Tyr1512Cys)" "" "" "0000250650" "00006721" "10" "5498" "0" "5498" "0" "c.5498A>T" "r.(?)" "p.(Glu1833Val)" "" "" "0000250772" "00006721" "30" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "" "" "0000250783" "00006721" "30" "3729" "0" "3729" "0" "c.3729A>G" "r.(?)" "p.(Ser1243=)" "" "" "0000251728" "00006721" "30" "2436" "16" "2436" "16" "c.2436+16A>G" "r.(=)" "p.(=)" "" "" "0000251790" "00006721" "30" "6405" "0" "6405" "0" "c.6405A>C" "r.(?)" "p.(Val2135=)" "" "" "0000251791" "00006721" "30" "6930" "0" "6930" "0" "c.6930A>G" "r.(?)" "p.(Leu2310=)" "" "" "0000251933" "00006721" "30" "4576" "0" "4576" "0" "c.4576A>G" "r.(?)" "p.(Asn1526Asp)" "" "" "0000251959" "00006721" "30" "5363" "0" "5363" "0" "c.5363A>G" "r.(?)" "p.(Gln1788Arg)" "" "" "0000251982" "00006721" "30" "7900" "0" "7900" "0" "c.7900A>T" "r.(?)" "p.(Thr2634Ser)" "" "" "0000252145" "00006721" "30" "3085" "-114" "3085" "-114" "c.3085-114A>G" "r.(=)" "p.(=)" "" "" "0000252427" "00006721" "50" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Gln471Arg)" "" "" "0000252685" "00006721" "50" "4447" "0" "4447" "0" "c.4447A>T" "r.(?)" "p.(Ile1483Leu)" "" "" "0000252703" "00006721" "30" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "" "" "0000252705" "00006721" "30" "4775" "0" "4775" "0" "c.4775A>G" "r.(?)" "p.(Lys1592Arg)" "" "" "0000252755" "00006721" "50" "1982" "0" "1982" "0" "c.1982A>T" "r.(?)" "p.(Asn661Ile)" "" "" "0000252788" "00006721" "50" "3416" "0" "3416" "0" "c.3416A>G" "r.(?)" "p.(Tyr1139Cys)" "" "" "0000252974" "00006721" "10" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Ile305Phe)" "" "" "0000252977" "00006721" "10" "4535" "0" "4535" "0" "c.4535A>G" "r.(?)" "p.(Tyr1512Cys)" "" "" "0000253002" "00006721" "10" "5498" "0" "5498" "0" "c.5498A>T" "r.(?)" "p.(Glu1833Val)" "" "" "0000253173" "00006721" "10" "2091" "0" "2091" "0" "c.2091=" "r.(=)" "p.(Gly697=)" "" "" "0000253804" "00006721" "10" "2877" "18" "2877" "18" "c.2877+18A>C" "r.(=)" "p.(=)" "" "" "0000253991" "00006721" "30" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "" "" "0000254002" "00006721" "30" "3729" "0" "3729" "0" "c.3729A>G" "r.(?)" "p.(Ser1243=)" "" "" "0000254213" "00006721" "30" "1149" "0" "1149" "0" "c.1149A>G" "r.(?)" "p.(Glu383=)" "" "" "0000254360" "00006721" "30" "4041" "0" "4041" "0" "c.4041A>G" "r.(?)" "p.(Glu1347=)" "" "" "0000254526" "00006721" "30" "8268" "0" "8268" "0" "c.8268A>C" "r.(?)" "p.(Ile2756=)" "" "" "0000254896" "00006721" "30" "4401" "0" "4401" "0" "c.4401A>G" "r.(?)" "p.(Gln1467=)" "" "" "0000255348" "00006721" "70" "118" "0" "118" "0" "c.118del" "r.(?)" "p.(Met40CysfsTer8)" "" "" "0000255681" "00006721" "90" "1904" "-2" "1904" "-2" "c.1904-2A>G" "r.spl?" "p.?" "" "" "0000255682" "00006721" "90" "2631" "-2" "2631" "-2" "c.2631-2A>C" "r.spl?" "p.?" "" "" "0000255802" "00006721" "50" "8230" "0" "8230" "0" "c.8230A>G" "r.(?)" "p.(Arg2744Gly)" "" "" "0000256131" "00006721" "50" "3968" "0" "3968" "0" "c.3968A>G" "r.(?)" "p.(Lys1323Arg)" "" "" "0000256349" "00006721" "50" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Asn115Ser)" "" "" "0000256378" "00006721" "50" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Asn287Ser)" "" "" "0000256534" "00006721" "50" "4648" "0" "4648" "0" "c.4648A>T" "r.(?)" "p.(Thr1550Ser)" "" "" "0000265544" "00006721" "10" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Gly35=)" "" "" "0000265545" "00006721" "10" "1206" "0" "1206" "0" "c.1206G>A" "r.(?)" "p.(Lys402=)" "" "" "0000265546" "00006721" "90" "1266" "1" "1266" "1" "c.1266+1G>T" "r.spl?" "p.?" "" "" "0000265547" "00006721" "10" "1266" "6" "1266" "6" "c.1266+6G>T" "r.(=)" "p.(=)" "" "" "0000265548" "00006721" "10" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(Tyr42=)" "" "" "0000265549" "00006721" "10" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Leu448=)" "" "" "0000265550" "00006721" "10" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Thr496=)" "" "" "0000265551" "00006721" "10" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(Leu518=)" "" "" "0000265552" "00006721" "90" "1670" "0" "1671" "0" "c.1670_1671del" "r.(?)" "p.(Ile557ArgfsTer27)" "" "" "0000265553" "00006721" "10" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" "" "0000265554" "00006721" "30" "175" "0" "178" "0" "c.175_178del" "r.(?)" "p.(Thr59AlafsTer23)" "" "" "0000265555" "00006721" "90" "1903" "1" "1903" "1" "c.1903+1G>T" "r.spl?" "p.?" "" "" "0000265556" "00006721" "10" "1903" "4" "1903" "4" "c.1903+4G>A" "r.spl?" "p.?" "" "" "0000265557" "00006721" "10" "1903" "7" "1903" "7" "c.1903+7T>C" "r.(=)" "p.(=)" "" "" "0000265558" "00006721" "10" "1904" "-16" "1904" "-16" "c.1904-16T>A" "r.(=)" "p.(=)" "" "" "0000265559" "00006721" "90" "2130" "1" "2130" "1" "c.2130+1G>A" "r.spl?" "p.?" "" "" "0000265560" "00006721" "90" "2297" "2" "2297" "2" "c.2297+2T>A" "r.spl?" "p.?" "" "" "0000265561" "00006721" "10" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Asp782=)" "" "" "0000265562" "00006721" "50" "2468" "0" "2468" "0" "c.2468C>T" "r.(?)" "p.(Ser823Leu)" "" "" "0000265563" "00006721" "10" "2470" "0" "2470" "0" "c.2470T>C" "r.(?)" "p.(Leu824=)" "" "" "0000265564" "00006721" "10" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Arg877=)" "" "" "0000265565" "00006721" "70" "2637" "0" "2637" "0" "c.2637G>A" "r.(?)" "p.(Trp879Ter)" "" "" "0000265566" "00006721" "50" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Glu882Lys)" "" "" "0000265567" "00006721" "10" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Ile88=)" "" "" "0000265568" "00006721" "10" "2673" "0" "2673" "0" "c.2673T>C" "r.(?)" "p.(Tyr891=)" "" "" "0000265569" "00006721" "30" "2683" "0" "2683" "0" "c.2683T>C" "r.(?)" "p.(Tyr895His)" "" "" "0000265570" "00006721" "10" "273" "10" "273" "10" "c.273+10C>T" "r.(=)" "p.(=)" "" "" "0000265571" "00006721" "50" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "" "0000265573" "00006721" "10" "2815" "0" "2815" "0" "c.2815G>A" "r.(?)" "p.(Gly939Ser)" "" "" "0000265574" "00006721" "10" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Cys954=)" "" "" "0000265575" "00006721" "10" "2877" "15" "2877" "18" "c.2877+15_2877+18del" "r.(=)" "p.(=)" "" "" "0000265576" "00006721" "10" "2877" "16" "2877" "22" "c.2877+16_2877+22del" "r.(=)" "p.(=)" "" "" "0000265577" "00006721" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "" "" "0000265578" "00006721" "10" "3123" "0" "3123" "0" "c.3123C>T" "r.(?)" "p.(Leu1041=)" "" "" "0000265579" "00006721" "10" "3510" "0" "3510" "0" "c.3510G>A" "r.(?)" "p.(Glu1170=)" "" "" "0000265580" "00006721" "50" "3562" "0" "3562" "0" "c.3562T>C" "r.(?)" "p.(Tyr1188His)" "" "" "0000265581" "00006721" "10" "3696" "0" "3696" "0" "c.3696C>A" "r.(?)" "p.(Ser1232=)" "" "" "0000265582" "00006721" "50" "4019" "0" "4019" "0" "c.4019G>A" "r.(?)" "p.(Arg1340His)" "" "" "0000265583" "00006721" "10" "4065" "0" "4065" "0" "c.4065T>C" "r.(?)" "p.(Tyr1355=)" "" "" "0000265584" "00006721" "10" "4140" "0" "4140" "0" "c.4140C>T" "r.(?)" "p.(Leu1380=)" "" "" "0000265585" "00006721" "70" "4180" "0" "4180" "0" "c.4180C>T" "r.(?)" "p.(Gln1394Ter)" "" "" "0000265586" "00006721" "10" "4198" "0" "4198" "0" "c.4198C>A" "r.(?)" "p.(Arg1400=)" "" "" "0000265589" "00006721" "50" "4274" "0" "4274" "0" "c.4274G>A" "r.(?)" "p.(Arg1425Lys)" "" "" "0000265590" "00006721" "10" "429" "0" "429" "0" "c.429T>C" "r.(?)" "p.(Leu143=)" "" "" "0000265591" "00006721" "10" "4320" "0" "4320" "0" "c.4320G>A" "r.(?)" "p.(Val1440=)" "" "" "0000265592" "00006721" "50" "4352" "0" "4352" "0" "c.4352T>C" "r.(?)" "p.(Leu1451Pro)" "" "" "0000265593" "00006721" "10" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Glu1461=)" "" "" "0000265594" "00006721" "10" "4490" "0" "4490" "0" "c.4490G>A" "r.(?)" "p.(Arg1497Gln)" "" "" "0000265595" "00006721" "50" "4565" "0" "4565" "0" "c.4565C>T" "r.(?)" "p.(Thr1522Met)" "" "" "0000265596" "00006721" "10" "4578" "0" "4578" "0" "c.4578C>A" "r.(?)" "p.(Asn1526Lys)" "" "" "0000265597" "00006721" "90" "4608" "0" "4612" "0" "c.4608_4612del" "r.(?)" "p.(Arg1537GlufsTer5)" "" "" "0000265598" "00006721" "10" "4609" "0" "4609" "0" "c.4609C>T" "r.(?)" "p.(Arg1537Cys)" "" "" "0000265599" "00006721" "10" "4773" "0" "4773" "0" "c.4773G>A" "r.(?)" "p.(Arg1591=)" "" "" "0000265600" "00006721" "50" "4901" "0" "4901" "0" "c.4901G>A" "r.(?)" "p.(Arg1634Gln)" "" "" "0000265602" "00006721" "10" "5178" "0" "5178" "0" "c.5178C>A" "r.(?)" "p.(Asn1726Lys)" "" "" "0000265603" "00006721" "70" "5208" "0" "5209" "0" "c.5208_5209del" "r.(?)" "p.(Gly1737ThrfsTer7)" "" "" "0000265604" "00006721" "10" "5213" "0" "5213" "0" "c.5213G>A" "r.(?)" "p.(Arg1738Gln)" "" "" "0000265605" "00006721" "50" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Cys174Phe)" "" "" "0000265606" "00006721" "90" "5419" "0" "5419" "0" "c.5419C>T" "r.(?)" "p.(Gln1807Ter)" "" "" "0000265607" "00006721" "50" "5676" "0" "5678" "0" "c.5676_5678del" "r.(?)" "p.(Lys1892del)" "" "" "0000265608" "00006721" "50" "5801" "0" "5801" "0" "c.5801G>A" "r.(?)" "p.(Arg1934Gln)" "" "" "0000265609" "00006721" "10" "6054" "0" "6054" "0" "c.6054C>T" "r.(?)" "p.(Ile2018=)" "" "" "0000265610" "00006721" "10" "6208" "0" "6208" "0" "c.6208G>A" "r.(?)" "p.(Asp2070Asn)" "" "" "0000265611" "00006721" "50" "6275" "0" "6275" "0" "c.6275C>T" "r.(?)" "p.(Ala2092Val)" "" "" "0000265612" "00006721" "50" "6305" "0" "6305" "0" "c.6305G>T" "r.(?)" "p.(Gly2102Val)" "" "" "0000265613" "00006721" "30" "6333" "0" "6337" "0" "c.6333_6337del" "r.(?)" "p.(Lys2113PhefsTer3)" "" "" "0000265614" "00006721" "10" "6390" "0" "6390" "0" "c.6390T>C" "r.(?)" "p.(Ala2130=)" "" "" "0000265615" "00006721" "50" "6449" "0" "6449" "0" "c.6449C>G" "r.(?)" "p.(Ala2150Gly)" "" "" "0000265616" "00006721" "10" "6552" "0" "6552" "0" "c.6552G>A" "r.(?)" "p.(Val2184=)" "" "" "0000265617" "00006721" "50" "6583" "0" "6583" "0" "c.6583C>T" "r.(?)" "p.(His2195Tyr)" "" "" "0000265618" "00006721" "10" "6678" "0" "6678" "0" "c.6678T>A" "r.(?)" "p.(Gly2226=)" "" "" "0000265619" "00006721" "70" "6850" "0" "6850" "0" "c.6850C>T" "r.(?)" "p.(Arg2284Ter)" "" "" "0000265620" "00006721" "30" "6881" "0" "6881" "0" "c.6881C>G" "r.(?)" "p.(Ala2294Gly)" "" "" "0000265621" "00006721" "30" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Asp230Asn)" "" "" "0000265622" "00006721" "10" "7122" "0" "7122" "0" "c.7122C>T" "r.(?)" "p.(Thr2374=)" "" "" "0000265623" "00006721" "10" "7125" "0" "7125" "0" "c.7125G>A" "r.(?)" "p.(Gly2375=)" "" "" "0000265624" "00006721" "10" "741" "0" "741" "0" "c.741=" "r.(=)" "p.(Ala247=)" "" "" "0000265625" "00006721" "50" "7435" "0" "7435" "0" "c.7435G>C" "r.(?)" "p.(Val2479Leu)" "" "" "0000265626" "00006721" "10" "7734" "0" "7734" "0" "c.7734C>T" "r.(?)" "p.(Ser2578=)" "" "" "0000265627" "00006721" "10" "7916" "0" "7916" "0" "c.7916G>A" "r.(?)" "p.(Arg2639Gln)" "" "" "0000265628" "00006721" "10" "8019" "0" "8019" "0" "c.8019C>T" "r.(?)" "p.(Asp2673=)" "" "" "0000265629" "00006721" "10" "8175" "0" "8175" "0" "c.8175C>A" "r.(?)" "p.(Arg2725=)" "" "" "0000265630" "00006721" "10" "8191" "0" "8191" "0" "c.8191T>C" "r.(?)" "p.(Tyr2731His)" "" "" "0000265631" "00006721" "10" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Arg27=)" "" "" "0000265632" "00006721" "50" "8231" "0" "8231" "0" "c.8231G>A" "r.(?)" "p.(Arg2744Lys)" "" "" "0000265633" "00006721" "10" "8238" "0" "8238" "0" "c.8238C>T" "r.(?)" "p.(Ser2746=)" "" "" "0000265634" "00006721" "50" "8255" "0" "8255" "0" "c.8255G>A" "r.(?)" "p.(Arg2752Gln)" "" "" "0000265635" "00006721" "10" "8300" "0" "8300" "0" "c.8300C>A" "r.(?)" "p.(Thr2767Asn)" "" "" "0000265636" "00006721" "10" "8301" "0" "8301" "0" "c.8301C>G" "r.(?)" "p.(Thr2767=)" "" "" "0000265637" "00006721" "10" "8472" "0" "8472" "0" "c.8472G>C" "r.(?)" "p.(Gly2824=)" "" "" "0000265639" "00006721" "10" "939" "18" "939" "18" "c.939+18G>A" "r.(=)" "p.(=)" "" "" "0000265641" "00006721" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "" "0000265642" "00006721" "10" "957" "0" "957" "0" "c.957G>C" "r.(?)" "p.(Leu319=)" "" "" "0000267586" "00006721" "90" "1044" "1" "1044" "1" "c.1044+1G>T" "r.spl?" "p.?" "" "" "0000267587" "00006721" "10" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Gly35=)" "" "" "0000267588" "00006721" "50" "1138" "0" "1138" "0" "c.1138C>A" "r.(?)" "p.(Gln380Lys)" "" "" "0000267590" "00006721" "30" "1206" "0" "1206" "0" "c.1206G>A" "r.(?)" "p.(Lys402=)" "" "" "0000267591" "00006721" "10" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(Tyr42=)" "" "" "0000267592" "00006721" "30" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Arg44=)" "" "" "0000267593" "00006721" "50" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Thr496Met)" "" "" "0000267594" "00006721" "30" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Thr496=)" "" "" "0000267595" "00006721" "30" "1574" "14" "1574" "14" "c.1574+14G>T" "r.(=)" "p.(=)" "" "" "0000267596" "00006721" "30" "1575" "-15" "1575" "-15" "c.1575-15C>G" "r.(=)" "p.(=)" "" "" "0000267597" "00006721" "30" "1590" "0" "1590" "0" "c.1590C>T" "r.(?)" "p.(Tyr530=)" "" "" "0000267598" "00006721" "70" "1670" "0" "1671" "0" "c.1670_1671del" "r.(?)" "p.(Ile557ArgfsTer27)" "" "" "0000267599" "00006721" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Trp)" "" "" "0000267600" "00006721" "30" "1904" "-17" "1904" "-17" "c.1904-17C>G" "r.(=)" "p.(=)" "" "" "0000267601" "00006721" "10" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Ile640=)" "" "" "0000267602" "00006721" "90" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Gln66Ter)" "" "" "0000267603" "00006721" "10" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "" "0000267606" "00006721" "70" "2130" "2" "2130" "3" "c.2130+2_2130+3del" "r.spl?" "p.?" "" "" "0000267607" "00006721" "70" "2131" "0" "2132" "0" "c.2131_2132del" "r.(?)" "p.(Ser711CysfsTer4)" "" "" "0000267608" "00006721" "90" "2297" "2" "2297" "2" "c.2297+2T>A" "r.spl?" "p.?" "" "" "0000267609" "00006721" "30" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Asp782=)" "" "" "0000267610" "00006721" "50" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "" "0000267611" "00006721" "30" "2437" "-11" "2437" "-11" "c.2437-11del" "r.(=)" "p.(=)" "" "" "0000267612" "00006721" "90" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Ter)" "" "" "0000267613" "00006721" "30" "2630" "18" "2630" "18" "c.2630+18C>T" "r.(=)" "p.(=)" "" "" "0000267614" "00006721" "30" "2630" "19" "2630" "19" "c.2630+19G>A" "r.(=)" "p.(=)" "" "" "0000267615" "00006721" "10" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Arg877=)" "" "" "0000267616" "00006721" "10" "273" "10" "273" "10" "c.273+10C>T" "r.(=)" "p.(=)" "" "" "0000267617" "00006721" "50" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "" "0000267618" "00006721" "30" "2815" "0" "2815" "0" "c.2815G>A" "r.(?)" "p.(Gly939Ser)" "" "" "0000267619" "00006721" "10" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Cys954=)" "" "" "0000267621" "00006721" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "" "" "0000267622" "00006721" "30" "3147" "0" "3147" "0" "c.3147G>A" "r.(?)" "p.(Ser1049=)" "" "" "0000267623" "00006721" "50" "3162" "0" "3164" "0" "c.3162_3164del" "r.(?)" "p.(Lys1054del)" "" "" "0000267624" "00006721" "10" "3510" "0" "3510" "0" "c.3510G>A" "r.(?)" "p.(Glu1170=)" "" "" "0000267625" "00006721" "50" "3562" "0" "3562" "0" "c.3562T>C" "r.(?)" "p.(Tyr1188His)" "" "" "0000267626" "00006721" "30" "3650" "0" "3650" "0" "c.3650C>T" "r.(?)" "p.(Thr1217Met)" "" "" "0000267627" "00006721" "90" "3799" "0" "3799" "0" "c.3799C>T" "r.(?)" "p.(Arg1267Ter)" "" "" "0000267628" "00006721" "30" "3923" "0" "3923" "0" "c.3923G>A" "r.(?)" "p.(Arg1308Gln)" "" "" "0000267629" "00006721" "50" "4019" "0" "4019" "0" "c.4019G>A" "r.(?)" "p.(Arg1340His)" "" "" "0000267630" "00006721" "30" "4065" "0" "4065" "0" "c.4065T>C" "r.(?)" "p.(Tyr1355=)" "" "" "0000267631" "00006721" "30" "4212" "0" "4212" "0" "c.4212C>T" "r.(?)" "p.(Ser1404=)" "" "" "0000267632" "00006721" "30" "423" "-16" "423" "-15" "c.423-16_423-15insC" "r.(=)" "p.(=)" "" "" "0000267633" "00006721" "30" "423" "-9" "423" "-9" "c.423-9dup" "r.(=)" "p.(=)" "" "" "0000267634" "00006721" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Leu142Phe)" "" "" "0000267635" "00006721" "30" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Glu1461=)" "" "" "0000267636" "00006721" "50" "4387" "0" "4387" "0" "c.4387G>A" "r.(?)" "p.(Val1463Ile)" "" "" "0000267637" "00006721" "50" "4450" "0" "4450" "0" "c.4450G>C" "r.(?)" "p.(Glu1484Gln)" "" "" "0000267638" "00006721" "30" "4455" "0" "4455" "0" "c.4455G>T" "r.(?)" "p.(Arg1485Ser)" "" "" "0000267639" "00006721" "10" "4578" "0" "4578" "0" "c.4578C>A" "r.(?)" "p.(Asn1526Lys)" "" "" "0000267640" "00006721" "90" "4608" "0" "4612" "0" "c.4608_4612del" "r.(?)" "p.(Arg1537GlufsTer5)" "" "" "0000267641" "00006721" "30" "4609" "0" "4609" "0" "c.4609C>T" "r.(?)" "p.(Arg1537Cys)" "" "" "0000267642" "00006721" "30" "4773" "0" "4773" "0" "c.4773G>A" "r.(?)" "p.(Arg1591=)" "" "" "0000267643" "00006721" "70" "5001" "0" "5001" "0" "c.5001del" "r.(?)" "p.(Gln1667HisfsTer14)" "" "" "0000267644" "00006721" "50" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(His1679Tyr)" "" "" "0000267645" "00006721" "30" "5178" "0" "5178" "0" "c.5178C>A" "r.(?)" "p.(Asn1726Lys)" "" "" "0000267646" "00006721" "10" "5213" "0" "5213" "0" "c.5213G>A" "r.(?)" "p.(Arg1738Gln)" "" "" "0000267647" "00006721" "30" "522" "0" "522" "0" "c.522T>C" "r.(?)" "p.(Cys174=)" "" "" "0000267648" "00006721" "50" "5324" "0" "5324" "0" "c.5324G>T" "r.(?)" "p.(Arg1775Ile)" "" "" "0000267649" "00006721" "50" "5795" "0" "5795" "0" "c.5795G>A" "r.(?)" "p.(Arg1932His)" "" "" "0000267650" "00006721" "50" "6059" "0" "6059" "0" "c.6059G>C" "r.(?)" "p.(Gly2020Ala)" "" "" "0000267651" "00006721" "90" "6336" "0" "6336" "0" "c.6336del" "r.(?)" "p.(Asn2114IlefsTer2)" "" "" "0000267652" "00006721" "10" "6390" "0" "6390" "0" "c.6390T>C" "r.(?)" "p.(Ala2130=)" "" "" "0000267653" "00006721" "30" "6678" "0" "6678" "0" "c.6678T>A" "r.(?)" "p.(Gly2226=)" "" "" "0000267654" "00006721" "10" "7122" "0" "7122" "0" "c.7122C>T" "r.(?)" "p.(Thr2374=)" "" "" "0000267655" "00006721" "10" "741" "0" "741" "0" "c.741=" "r.(=)" "p.(Ala247=)" "" "" "0000267656" "00006721" "50" "7622" "0" "7622" "0" "c.7622G>A" "r.(?)" "p.(Arg2541Lys)" "" "" "0000267657" "00006721" "10" "8175" "0" "8175" "0" "c.8175C>A" "r.(?)" "p.(Arg2725=)" "" "" "0000267658" "00006721" "30" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Arg27=)" "" "" "0000267659" "00006721" "10" "8472" "0" "8472" "0" "c.8472G>C" "r.(?)" "p.(Gly2824=)" "" "" "0000267660" "00006721" "50" "8500" "0" "8500" "0" "c.8500C>T" "r.(?)" "p.(Arg2834Cys)" "" "" "0000267661" "00006721" "30" "939" "17" "939" "17" "c.939+17C>T" "r.(=)" "p.(=)" "" "" "0000267662" "00006721" "30" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "" "0000270953" "00006721" "10" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Gly35=)" "" "" "0000270954" "00006721" "30" "1206" "0" "1206" "0" "c.1206G>A" "r.(?)" "p.(Lys402=)" "" "" "0000270955" "00006721" "30" "1266" "6" "1266" "6" "c.1266+6G>T" "r.(=)" "p.(=)" "" "" "0000270956" "00006721" "10" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(Tyr42=)" "" "" "0000270957" "00006721" "30" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Thr496=)" "" "" "0000270958" "00006721" "30" "1574" "14" "1574" "14" "c.1574+14G>T" "r.(=)" "p.(=)" "" "" "0000270959" "00006721" "30" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" "" "0000270961" "00006721" "30" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Asp782=)" "" "" "0000270962" "00006721" "10" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Arg877=)" "" "" "0000270963" "00006721" "10" "2673" "0" "2673" "0" "c.2673T>C" "r.(?)" "p.(Tyr891=)" "" "" "0000270964" "00006721" "10" "273" "10" "273" "10" "c.273+10C>T" "r.(=)" "p.(=)" "" "" "0000270965" "00006721" "10" "2815" "0" "2815" "0" "c.2815G>A" "r.(?)" "p.(Gly939Ser)" "" "" "0000270966" "00006721" "10" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Cys954=)" "" "" "0000270967" "00006721" "50" "3005" "0" "3005" "0" "c.3005G>A" "r.(?)" "p.(Arg1002Gln)" "" "" "0000270968" "00006721" "30" "3085" "-115" "3085" "-115" "c.3085-115C>T" "r.(=)" "p.(=)" "" "" "0000270969" "00006721" "30" "3303" "0" "3303" "0" "c.3303C>T" "r.(?)" "p.(Tyr1101=)" "" "" "0000270970" "00006721" "50" "3691" "0" "3691" "0" "c.3691G>A" "r.(?)" "p.(Asp1231Asn)" "" "" "0000270971" "00006721" "50" "386" "0" "386" "0" "c.386G>C" "r.(?)" "p.(Arg129Pro)" "" "" "0000270972" "00006721" "30" "3922" "0" "3922" "0" "c.3922C>T" "r.(?)" "p.(Arg1308Trp)" "" "" "0000270973" "00006721" "30" "3972" "0" "3972" "0" "c.3972T>C" "r.(?)" "p.(Asn1324=)" "" "" "0000270974" "00006721" "50" "4018" "0" "4018" "0" "c.4018C>G" "r.(?)" "p.(Arg1340Gly)" "" "" "0000270975" "00006721" "10" "4065" "0" "4065" "0" "c.4065T>C" "r.(?)" "p.(Tyr1355=)" "" "" "0000270976" "00006721" "50" "4166" "0" "4166" "0" "c.4166G>A" "r.(?)" "p.(Ser1389Asn)" "" "" "0000270978" "00006721" "30" "4245" "0" "4245" "0" "c.4245T>G" "r.(?)" "p.(Thr1415=)" "" "" "0000270979" "00006721" "30" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Glu1461=)" "" "" "0000270980" "00006721" "10" "4455" "0" "4455" "0" "c.4455G>T" "r.(?)" "p.(Arg1485Ser)" "" "" "0000270981" "00006721" "10" "4588" "0" "4588" "0" "c.4588G>T" "r.(?)" "p.(Val1530Phe)" "" "" "0000270982" "00006721" "90" "4608" "0" "4612" "0" "c.4608_4612del" "r.(?)" "p.(Arg1537GlufsTer5)" "" "" "0000270983" "00006721" "10" "4609" "0" "4609" "0" "c.4609C>T" "r.(?)" "p.(Arg1537Cys)" "" "" "0000270984" "00006721" "10" "4773" "0" "4773" "0" "c.4773G>A" "r.(?)" "p.(Arg1591=)" "" "" "0000270985" "00006721" "50" "485" "0" "485" "0" "c.485G>T" "r.(?)" "p.(Arg162Leu)" "" "" "0000270986" "00006721" "30" "4996" "0" "4996" "0" "c.4996C>T" "r.(?)" "p.(Arg1666Trp)" "" "" "0000270987" "00006721" "70" "5032" "0" "5032" "0" "c.5032G>A" "r.(?)" "p.(Ala1678Thr)" "" "" "0000270988" "00006721" "30" "5178" "0" "5178" "0" "c.5178C>A" "r.(?)" "p.(Asn1726Lys)" "" "" "0000270989" "00006721" "10" "5213" "0" "5213" "0" "c.5213G>A" "r.(?)" "p.(Arg1738Gln)" "" "" "0000270990" "00006721" "30" "5361" "0" "5361" "0" "c.5361C>T" "r.(?)" "p.(Phe1787=)" "" "" "0000270991" "00006721" "90" "5800" "0" "5800" "0" "c.5800C>T" "r.(?)" "p.(Arg1934Ter)" "" "" "0000270992" "00006721" "50" "6059" "0" "6059" "0" "c.6059G>C" "r.(?)" "p.(Gly2020Ala)" "" "" "0000270993" "00006721" "30" "6208" "0" "6208" "0" "c.6208G>A" "r.(?)" "p.(Asp2070Asn)" "" "" "0000270994" "00006721" "50" "6390" "0" "6390" "0" "c.6390T>A" "r.(?)" "p.(Ala2130=)" "" "" "0000270995" "00006721" "10" "6390" "0" "6390" "0" "c.6390T>C" "r.(?)" "p.(Ala2130=)" "" "" "0000270996" "00006721" "50" "665" "0" "665" "0" "c.665G>A" "r.(?)" "p.(Arg222Gln)" "" "" "0000270997" "00006721" "10" "6678" "0" "6678" "0" "c.6678T>A" "r.(?)" "p.(Gly2226=)" "" "" "0000270998" "00006721" "30" "6881" "0" "6881" "0" "c.6881C>G" "r.(?)" "p.(Ala2294Gly)" "" "" "0000270999" "00006721" "10" "7122" "0" "7122" "0" "c.7122C>T" "r.(?)" "p.(Thr2374=)" "" "" "0000271000" "00006721" "30" "727" "-12" "727" "-12" "c.727-12G>A" "r.(=)" "p.(=)" "" "" "0000271002" "00006721" "50" "7685" "0" "7687" "0" "c.7685_7687del" "r.(?)" "p.(Ser2562del)" "" "" "0000271003" "00006721" "50" "7994" "0" "7994" "0" "c.7994C>T" "r.(?)" "p.(Thr2665Met)" "" "" "0000271004" "00006721" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Arg270Ter)" "" "" "0000271005" "00006721" "50" "8090" "0" "8090" "0" "c.8090G>A" "r.(?)" "p.(Gly2697Asp)" "" "" "0000271006" "00006721" "10" "8175" "0" "8175" "0" "c.8175C>A" "r.(?)" "p.(Arg2725=)" "" "" "0000271007" "00006721" "10" "8191" "0" "8191" "0" "c.8191T>C" "r.(?)" "p.(Tyr2731His)" "" "" "0000271008" "00006721" "10" "8300" "0" "8300" "0" "c.8300C>A" "r.(?)" "p.(Thr2767Asn)" "" "" "0000271009" "00006721" "10" "8472" "0" "8472" "0" "c.8472G>C" "r.(?)" "p.(Gly2824=)" "" "" "0000271010" "00006721" "30" "8487" "0" "8498" "0" "c.8487_8498del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0000271011" "00006721" "30" "8520" "0" "8520" "0" "c.8520G>A" "r.(?)" "p.(Gly2840=)" "" "" "0000271012" "00006721" "50" "8531" "0" "8531" "0" "c.8531G>T" "r.(?)" "p.(Gly2844Val)" "" "" "0000275596" "00006721" "50" "-7" "0" "-7" "0" "c.-7C>T" "r.(?)" "p.(=)" "" "" "0000275597" "00006721" "10" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Gly35=)" "" "" "0000275598" "00006721" "50" "1067" "0" "1067" "0" "c.1067C>A" "r.(?)" "p.(Thr356Lys)" "" "" "0000275599" "00006721" "30" "1206" "0" "1206" "0" "c.1206G>A" "r.(?)" "p.(Lys402=)" "" "" "0000275600" "00006721" "30" "1266" "6" "1266" "6" "c.1266+6G>T" "r.(=)" "p.(=)" "" "" "0000275601" "00006721" "10" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(Tyr42=)" "" "" "0000275602" "00006721" "30" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Tyr494=)" "" "" "0000275603" "00006721" "30" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Thr496=)" "" "" "0000275604" "00006721" "50" "1517" "0" "1517" "0" "c.1517C>T" "r.(?)" "p.(Pro506Leu)" "" "" "0000275605" "00006721" "30" "1574" "14" "1574" "14" "c.1574+14G>T" "r.(=)" "p.(=)" "" "" "0000275606" "00006721" "30" "1806" "0" "1806" "0" "c.1806T>C" "r.(?)" "p.(Asp602=)" "" "" "0000275607" "00006721" "30" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Thr61=)" "" "" "0000275608" "00006721" "10" "1903" "7" "1903" "7" "c.1903+7T>C" "r.(=)" "p.(=)" "" "" "0000275609" "00006721" "10" "1904" "-17" "1904" "-17" "c.1904-17C>G" "r.(=)" "p.(=)" "" "" "0000275610" "00006721" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Ile640=)" "" "" "0000275611" "00006721" "30" "2080" "0" "2080" "0" "c.2080G>A" "r.(?)" "p.(Ala694Thr)" "" "" "0000275612" "00006721" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Glu754Lys)" "" "" "0000275613" "00006721" "30" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Asp782=)" "" "" "0000275614" "00006721" "50" "2597" "0" "2597" "0" "c.2597G>A" "r.(?)" "p.(Arg866His)" "" "" "0000275615" "00006721" "10" "2673" "0" "2673" "0" "c.2673T>C" "r.(?)" "p.(Tyr891=)" "" "" "0000275616" "00006721" "10" "273" "10" "273" "10" "c.273+10C>T" "r.(=)" "p.(=)" "" "" "0000275617" "00006721" "50" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "" "0000275618" "00006721" "10" "2815" "0" "2815" "0" "c.2815G>A" "r.(?)" "p.(Gly939Ser)" "" "" "0000275619" "00006721" "10" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Cys954=)" "" "" "0000275620" "00006721" "50" "2906" "0" "2906" "0" "c.2906C>T" "r.(?)" "p.(Thr969Ile)" "" "" "0000275621" "00006721" "70" "3084" "1" "3084" "1" "c.3084+1G>A" "r.spl?" "p.?" "" "" "0000275622" "00006721" "50" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Leu1041Phe)" "" "" "0000275623" "00006721" "10" "3510" "0" "3510" "0" "c.3510G>A" "r.(?)" "p.(Glu1170=)" "" "" "0000275624" "00006721" "50" "3562" "0" "3562" "0" "c.3562T>C" "r.(?)" "p.(Tyr1188His)" "" "" "0000275625" "00006721" "10" "3923" "0" "3923" "0" "c.3923G>A" "r.(?)" "p.(Arg1308Gln)" "" "" "0000275626" "00006721" "30" "4065" "0" "4065" "0" "c.4065T>C" "r.(?)" "p.(Tyr1355=)" "" "" "0000275627" "00006721" "50" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Glu1357Lys)" "" "" "0000275630" "00006721" "30" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Glu1461=)" "" "" "0000275631" "00006721" "10" "4455" "0" "4455" "0" "c.4455G>T" "r.(?)" "p.(Arg1485Ser)" "" "" "0000275632" "00006721" "10" "4578" "0" "4578" "0" "c.4578C>A" "r.(?)" "p.(Asn1526Lys)" "" "" "0000275633" "00006721" "70" "4608" "0" "4612" "0" "c.4608_4612del" "r.(?)" "p.(Arg1537GlufsTer5)" "" "" "0000275634" "00006721" "10" "4609" "0" "4609" "0" "c.4609C>T" "r.(?)" "p.(Arg1537Cys)" "" "" "0000275635" "00006721" "10" "4773" "0" "4773" "0" "c.4773G>A" "r.(?)" "p.(Arg1591=)" "" "" "0000275636" "00006721" "30" "5133" "0" "5133" "0" "c.5133G>A" "r.(?)" "p.(Glu1711=)" "" "" "0000275637" "00006721" "10" "5213" "0" "5213" "0" "c.5213G>A" "r.(?)" "p.(Arg1738Gln)" "" "" "0000275638" "00006721" "30" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Ile18Thr)" "" "" "0000275639" "00006721" "30" "5533" "0" "5533" "0" "c.5533G>T" "r.(?)" "p.(Ala1845Ser)" "" "" "0000275640" "00006721" "50" "6059" "0" "6059" "0" "c.6059G>C" "r.(?)" "p.(Gly2020Ala)" "" "" "0000275642" "00006721" "30" "6079" "0" "6079" "0" "c.6079G>A" "r.(?)" "p.(Glu2027Lys)" "" "" "0000275643" "00006721" "30" "6208" "0" "6208" "0" "c.6208G>A" "r.(?)" "p.(Asp2070Asn)" "" "" "0000275644" "00006721" "30" "6351" "0" "6351" "0" "c.6351T>C" "r.(?)" "p.(Asp2117=)" "" "" "0000275645" "00006721" "10" "6390" "0" "6390" "0" "c.6390T>C" "r.(?)" "p.(Ala2130=)" "" "" "0000275646" "00006721" "30" "6678" "0" "6678" "0" "c.6678T>A" "r.(?)" "p.(Gly2226=)" "" "" "0000275647" "00006721" "10" "7122" "0" "7122" "0" "c.7122C>T" "r.(?)" "p.(Thr2374=)" "" "" "0000275648" "00006721" "30" "7125" "0" "7125" "0" "c.7125G>A" "r.(?)" "p.(Gly2375=)" "" "" "0000275649" "00006721" "30" "7156" "0" "7156" "0" "c.7156T>C" "r.(?)" "p.(Leu2386=)" "" "" "0000275650" "00006721" "10" "741" "0" "741" "0" "c.741=" "r.(=)" "p.(Ala247=)" "" "" "0000275651" "00006721" "30" "7734" "0" "7734" "0" "c.7734C>T" "r.(?)" "p.(Ser2578=)" "" "" "0000275652" "00006721" "10" "8175" "0" "8175" "0" "c.8175C>A" "r.(?)" "p.(Arg2725=)" "" "" "0000275653" "00006721" "10" "8191" "0" "8191" "0" "c.8191T>C" "r.(?)" "p.(Tyr2731His)" "" "" "0000275654" "00006721" "10" "8300" "0" "8300" "0" "c.8300C>A" "r.(?)" "p.(Thr2767Asn)" "" "" "0000275655" "00006721" "30" "8415" "0" "8415" "0" "c.8415C>T" "r.(?)" "p.(Ala2805=)" "" "" "0000275656" "00006721" "10" "8472" "0" "8472" "0" "c.8472G>C" "r.(?)" "p.(Gly2824=)" "" "" "0000275657" "00006721" "50" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Cys289=)" "" "" "0000275658" "00006721" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Val30=)" "" "" "0000330809" "00006721" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000330810" "00006721" "50" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "" "" "0000330811" "00006721" "30" "6208" "0" "6208" "0" "c.6208G>A" "r.(?)" "p.(Asp2070Asn)" "" "" "0000368305" "00006721" "50" "5449" "0" "5449" "0" "c.5449G>A" "r.(?)" "p.(Val1817Met)" "24" "" "0000441340" "00006721" "11" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(=)" "1" "PKP1 and JUP interacting domain" "0000441341" "00006721" "11" "171" "-97" "171" "-97" "c.171-97G>C" "r.(?)" "p.(=)" "1i" "" "0000441342" "00006721" "11" "273" "10" "273" "10" "c.273+10C>T" "r.(?)" "p.(=)" "2i" "" "0000441343" "00006721" "11" "274" "-31" "274" "-31" "c.274-31T>C" "r.(?)" "p.(=)" "2i" "" "0000441344" "00006721" "15" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Asn115Ser)" "3" "PKP1 and JUP interacting domain" "0000441345" "00006721" "11" "727" "-68" "727" "-68" "c.727-68G>A" "r.(?)" "p.(=)" "5i" "" "0000441346" "00006721" "11" "741" "0" "741" "0" "c.741T>G" "r.(?)" "p.(=)" "6" "PKP1 and JUP interacting domain" "0000441347" "00006721" "11" "777" "94" "777" "94" "c.777+94C>G" "r.(?)" "p.(=)" "6i" "" "0000441348" "00006721" "15" "853" "0" "853" "0" "c.853T>G" "r.(?)" "p.(Trp285Gly)" "7" "alpha-helical bundle" "0000441349" "00006721" "11" "1113" "0" "1113" "0" "c.1113T>C" "r.(?)" "p.(=)" "9" "Spectrin 1" "0000441350" "00006721" "11" "1141" "-44" "1141" "-44" "c.1141-44C>T" "r.(?)" "p.(=)" "9i" "" "0000441351" "00006721" "11" "1420" "-93" "1420" "-93" "c.1420-93C>T" "r.(?)" "p.(=)" "11i" "" "0000441352" "00006721" "15" "1423" "0" "1423" "0" "c.1423del" "r.(?)" "p.(Ile475Serfs*10)" "12" "PKP1 and JUP interacting domain" "0000441353" "00006721" "11" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(=)" "12" "PKP1 and JUP interacting domain" "0000441354" "00006721" "11" "1575" "-95" "1575" "-95" "c.1575-95G>A" "r.(?)" "p.(=)" "12i" "" "0000441355" "00006721" "11" "1702" "-28" "1702" "-27" "c.1702-28_1702-27insCA" "r.(?)" "p.(=)" "13i" "" "0000441356" "00006721" "11" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "14" "" "0000441357" "00006721" "11" "1903" "7" "1903" "7" "c.1903+7T>C" "r.(?)" "p.(=)" "14i" "" "0000441358" "00006721" "11" "1903" "57" "1903" "57" "c.1903+57G>A" "r.(?)" "p.(=)" "14i" "" "0000441359" "00006721" "11" "1904" "-49" "1904" "-49" "c.1904-49T>A" "r.(?)" "p.(=)" "14i" "" "0000441360" "00006721" "11" "2091" "0" "2091" "0" "c.2091A>G" "r.(?)" "p.(=)" "15" "" "0000441361" "00006721" "11" "2247" "0" "2247" "0" "c.2247A>G" "r.(?)" "p.(=)" "16" "" "0000441362" "00006721" "11" "2297" "51" "2297" "51" "c.2297+51T>C" "r.(?)" "p.(=)" "16i" "" "0000441363" "00006721" "11" "2298" "-85" "2298" "-85" "c.2298-85C>T" "r.(?)" "p.(=)" "16i" "" "0000441364" "00006721" "11" "2298" "-38" "2298" "-38" "c.2298-38T>C" "r.(?)" "p.(=)" "16i" "" "0000441365" "00006721" "11" "2877" "79" "2877" "79" "c.2877+79C>A" "r.(?)" "p.(=)" "20i" "" "0000441366" "00006721" "11" "2985" "70" "2985" "70" "c.2985+70G>A" "r.(?)" 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"p.(=)" "24" "Plectin 15" "0000441386" "00006721" "11" "8175" "0" "8175" "0" "c.8175C>A" "r.(?)" "p.(=)" "24" "Plectin 16" "0000441387" "00006721" "11" "8300" "0" "8300" "0" "c.8300C>A" "r.(?)" "p.(Thr2762Asn)" "24" "Plectin 17" "0000441388" "00006721" "15" "8605" "0" "8605" "0" "c.8605A>G" "r.(?)" "p.(Ile2869Val)" "24" "C-terminus" "0000441389" "00006721" "15" "8625" "0" "8625" "0" "c.*9T>A" "r.(?)" "p.(=)" "24" "" "0000441390" "00006721" "11" "78" "0" "78" "0" "c.78G>T" "r.(?)" "p.(=)" "1" "PKP1 and JUP interacting domain" "0000441391" "00006721" "11" "778" "-92" "778" "-92" "c.778-92dup" "r.(=)" "p.(=)" "6i" "" "0000441392" "00006721" "11" "1266" "6" "1266" "6" "c.1266+6G>T" "r.(?)" "p.(=)" "10i" "" "0000441755" "00006721" "11" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "1" "" "0000441756" "00006721" "95" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "1" "PKP1 and JUP interacting domain" "0000441757" "00006721" "95" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "1" "PKP1 and JUP interacting domain" "0000441758" "00006721" "55" "7622" "0" "7622" "0" "c.7622G>A" "r.(?)" "p.(Arg2541Lys)" "24" "Plectin 13" "0000441759" "00006721" "95" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Gln90Arg)" "2" "PKP1 and JUP interacting domain" "0000441760" "00006721" "99" "423" "-1" "423" "-1" "c.423-1G>A" "r.spl" "p.?" "3i" "PKP1 and JUP interacting domain" "0000441761" "00006721" "99" "542" "5" "542" "5" "c.542+5G>A" "r.(?)" "p.(=)" "4i" "PKP1 and JUP interacting domain" "0000441762" "00006721" "99" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Trp233*)" "5" "PKP1 and JUP interacting domain" "0000441763" "00006721" "97" "897" "0" "897" "0" "c.897C>G" "r.(?)" "p.(Ser299Arg)" "7" "PKP1 and JUP interacting domain" "0000441764" "00006721" "11" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Ile305Phe)" "7" "PKP1 and JUP interacting domain" "0000441765" "00006721" "99" "939" "1" "939" "1" "c.939+1G>A" "r.spl" "p.?" "7i" "PKP1 and JUP interacting domain" "0000441766" "00006721" "75" "1408" "0" "1408" "0" "c.1408A>G" "r.(?)" "p.(Lys470Glu)" "11" "PKP1 and JUP interacting domain" "0000441767" "00006721" "55" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "13" "PKP1 and JUP interacting domain" "0000441768" "00006721" "95" "1325" "0" "1325" "0" "c.1325C>T" "r.(?)" "p.(Ser442Phe)" "11" "PKP1 and JUP interacting domain" "0000441769" "00006721" "55" "1481" "0" "1481" "0" "c.1481A>T" "r.(?)" "p.(Tyr494Phe)" "12" "PKP1 and JUP interacting domain" "0000441770" "00006721" "95" "1520" "0" "1520" "0" "c.1520C>T" "r.(?)" "p.(Ser507Phe)" "12" "PKP1 and JUP interacting domain" "0000441771" "00006721" "99" "1755" "0" "1755" "0" "c.1755dup" "r.(?)" "p.(His586Thrfs*9)" "14" "" "0000441772" "00006721" "99" "1755" "0" "1755" "0" "c.1755dup" "r.(?)" "p.(His586Thrfs*9)" "14" "" "0000441773" "00006721" "99" "1817" "0" "1846" "0" "c.1817_1846dup" "r.(?)" 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"p.(Arg866Ser)" "18" "" "0000441912" "00006721" "55" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Cys)" "18" "" "0000441913" "00006721" "55" "2610" "0" "2610" "0" "c.2610A>G" "r.(?)" "p.(Ile870Met)" "18" "" "0000441914" "00006721" "55" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Glu882Lys)" "19" "" "0000441915" "00006721" "55" "2673" "0" "2673" "0" "c.2673T>C" "r.(?)" "p.(Tyr891=)" "19" "" "0000441916" "00006721" "55" "2683" "0" "2683" "0" "c.2683T>C" "r.(?)" "p.(Tyr895His)" "19" "" "0000441917" "00006721" "55" "2720" "0" "2720" "0" "c.2720G>A" "r.(?)" "p.(Arg907His)" "19" "" "0000441918" "00006721" "55" "2765" "0" "2766" "0" "c.2765_2766del" "r.(?)" "p.(Thr922Serfs*7)" "19" "" "0000441919" "00006721" "55" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Arg941*)" "20" "" "0000441920" "00006721" "55" "2848" "0" "2848" "0" "c.2848dup" "r.(?)" "p.(Ile950Asnfs*3)" "20" "" "0000441921" "00006721" "55" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "p.(Ala955Thr)" "20" "" "0000441922" "00006721" "55" "2866" "0" "2866" "0" "c.2866A>T" "r.(?)" "p.(Asn956Tyr)" "20" "" "0000441923" "00006721" "55" "2956" "0" "2956" "0" "c.2956C>T" "r.(?)" "p.(Gln986*)" "21" "" "0000441924" "00006721" "55" "3346" "0" "3346" "0" "c.3346T>C" "r.(?)" "p.(Tyr1116His)" "23" "" "0000441925" "00006721" "55" "3532" "0" "3532" "0" "c.3532C>G" "r.(?)" "p.(Leu1178Val)" "23" "" "0000441926" "00006721" "55" "3541" "0" "3541" "0" "c.3541G>T" "r.(?)" "p.(Glu1181*)" "23" "" "0000441927" "00006721" "55" "3601" "0" "3601" "0" "c.3601G>A" "r.(?)" "p.(Glu1201Lys)" "23" "" "0000441928" "00006721" "55" "3650" "0" "3650" "0" "c.3650C>T" "r.(?)" "p.(Tyr1217Met)" "23" "" "0000441929" "00006721" "55" "3784" "0" "3784" "0" "c.3784C>T" "r.(?)" "p.(Gln1262*)" "23" "" "0000441930" "00006721" "55" "3805" "0" "3805" "0" "c.3805C>T" "r.(?)" "p.(Arg1269*)" "23" "" "0000441931" "00006721" "55" "3862" "0" "3862" "0" "c.3862A>C" "r.(?)" "p.(Lys1288Gln)" "23" "" "0000441932" "00006721" "55" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "23" "" "0000441933" "00006721" "55" "3901" "0" "3901" "0" "c.3901C>T" "r.(?)" "p.(Gln1301*)" "23" "" "0000441934" "00006721" "55" "3995" "0" "3996" "0" "c.3995_3996del" "r.(?)" "p.(Ala1332Glufs*15)" "23" "" "0000441935" "00006721" "55" "4000" "0" "4000" "0" "c.4000T>C" "r.(?)" "p.(Phe1334Leu)" "23" "" "0000441936" "00006721" "55" "4043" "0" "4043" "0" "c.4043T>G" "r.(?)" "p.(Leu1348Arg)" "23" "" "0000441937" "00006721" "55" "4117" "0" "4117" "0" "c.4117A>G" "r.(?)" "p.(Thr1373Ala)" "23" "" "0000441938" "00006721" "55" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(Arg1400*)" "23" "" "0000441939" "00006721" "55" "4395" "0" "4395" "0" "c.4395T>G" "r.(?)" "p.(Tyr1465*)" "23" "" "0000441940" "00006721" "55" "4455" "0" "4455" "0" "c.4455G>Y" "r.(?)" "p.(Arg1485Ser)" "23" "" "0000441941" "00006721" "55" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497Trp)" "23" "" "0000441942" "00006721" "55" "4528" "0" "4528" "0" "c.4528G>A" "r.(?)" "p.(Val1510Ile)" "23" "" "0000441943" "00006721" "55" "4588" "0" "4588" "0" "c.4588G>T" "r.(?)" "p.(Val1530Phe)" "23" "" "0000441944" "00006721" "55" "4604" "0" "4604" "0" "c.4604T>C" "r.(?)" "p.(Leu1535Pro)" "23" "" "0000441945" "00006721" "55" "4741" "0" "4741" "0" "c.4741A>G" "r.(?)" "p.(Lys1581Glu)" "23" "" "0000441946" "00006721" "55" "4750" "0" "4750" "0" "c.4750G>A" "r.(?)" "p.(Ala1584Thr)" "23" "" "0000441947" "00006721" "55" "4775" "0" "4775" "0" "c.4775A>G" "r.(?)" "p.(Lys1592Arg)" "23" "" "0000441948" "00006721" "55" "4886" "0" "4886" "0" "c.4886G>T" "r.(?)" "p.(Ser1629Ile)" "23" "" "0000441949" "00006721" "55" "4915" "0" "4915" "0" "c.4915G>A" "r.(?)" "p.(Val1639Met)" "23" "" "0000441950" "00006721" "55" "4943" "0" "4943" "0" "c.4943A>G" "r.(?)" "p.(Gln1648Arg)" "23" "" "0000441951" "00006721" "55" "4973" "0" "4973" "0" "c.4973C>T" "r.(?)" "p.(Ser1658Phe)" "23" "" "0000441952" "00006721" "55" "5102" "0" "5102" "0" "c.5102T>C" "r.(?)" "p.(Ile1701Thr)" "23" "" "0000441953" "00006721" "55" "5195" "0" "5195" "0" "c.5195A>G" "r.(?)" "p.(Asp1732Gly)" "23" "" "0000441954" "00006721" "55" "5208" "0" "5209" "0" "c.5208_5209del" "r.(?)" "p.(Gly1737Thrfs*7)" "23" "" "0000441955" "00006721" "55" "5316" "0" "5316" "0" "c.5316T>C" "r.(?)" "p.(Asp1772=)" "23" "" "0000441956" "00006721" "55" "5419" "0" "5419" "0" "c.5419C>T" "r.(?)" "p.(Gln1807*)" "24" "" "0000441957" "00006721" "55" "5449" "0" "5449" "0" "c.5449G>A" "r.(?)" "p.(Val1817Met)" "24" "" "0000441958" "00006721" "55" "5513" "0" "5513" "0" "c.5513G>A" "r.(?)" "p.(Arg1838His)" "24" "" "0000441959" "00006721" "55" "5593" "0" "5593" "0" "c.5593A>T" "r.(?)" "p.(Asn1865Tyr)" "24" "" "0000441960" "00006721" "55" "5596" "0" "5596" "0" "c.5596C>T" "r.(?)" "p.(Gln1866*)" "24" "" "0000441961" "00006721" "55" "5617" "0" "5617" "0" "c.5617C>T" "r.(?)" "p.(Arg1873Cys)" "24" "" "0000441962" "00006721" "55" "5800" "0" "5800" "0" "c.5800C>T" "r.(?)" "p.(Arg1934*)" "24" "" "0000441963" "00006721" "55" "5999" "0" "6000" "0" "c.5999_6000delinsG" "r.(?)" "p.(Ser2000Trpfs*33)" "24" "" "0000441964" "00006721" "55" "6010" "0" "6010" "0" "c.6010G>T" "r.(?)" "p.(Val2004Phe)" "24" "" "0000441965" "00006721" "55" "6166" "0" "6166" "0" "c.6166G>C" "r.(?)" "p.(Gly2056Arg)" "24" "" "0000441966" "00006721" "55" "6319" "0" "6319" "0" "c.6319G>C" "r.(?)" "p.(Val2107Leu)" "24" "" "0000441967" "00006721" "55" "6456" "0" "6456" "0" "c.6456dup" "r.(?)" "p.(Leu2153Alafs*3)" "24" "" "0000441968" "00006721" "55" "6655" "0" "6655" "0" "c.6655G>A" "r.(?)" "p.(Val2291Ile)" "24" "" "0000441969" "00006721" "55" "6678" "0" "6678" "0" "c.6678T>A" "r.(?)" "p.(Gly2226=)" "24" "" "0000441970" "00006721" "55" "6799" "0" "6799" "0" "c.6799A>T" "r.(?)" "p.(Thr2267Ser)" "24" "" "0000441971" "00006721" "55" "6850" "0" "6850" "0" "c.6850C>T" "r.(?)" "p.(Arg2284*)" "24" "" "0000441972" "00006721" "55" "6885" "0" "6885" "0" "c.6885A>T" "r.(?)" "p.(Gln2295His)" "24" "" "0000441973" "00006721" "55" "7027" "0" "7027" "0" "c.7027G>A" "r.(?)" "p.(Glu2343Lys)" "24" "" "0000441974" "00006721" "55" "7039" "0" "7039" "0" "c.7039A>G" "r.(?)" "p.(Ile2347Val)" "24" "" "0000441975" "00006721" "55" "7217" "0" "7217" "0" "c.7217C>A" "r.(?)" "p.(Ser2406*)" "24" "" "0000441976" "00006721" "55" "7534" "0" "7534" "0" "c.7534G>T" "r.(?)" "p.(Asp2512Tyr)" "24" "" "0000441977" "00006721" "55" "7623" "0" "7623" "0" "c.7623G>T" "r.(?)" "p.(Arg2541Ser)" "24" "" "0000441978" "00006721" "55" "7685" "0" "7687" "0" "c.7685_7687del" "r.(?)" "p.(Ser2562del)" "24" "" "0000441979" "00006721" "55" "7780" "0" "7780" "0" "c.7780del" "r.(?)" "p.(Ser2594Profs*9)" "24" "" "0000441980" "00006721" "55" "7852" "0" "7852" "0" "c.7852C>T" "r.(?)" "p.(Pro2618Ser)" "24" "" "0000441981" "00006721" "55" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639Trp)" "24" "" "0000441982" "00006721" "55" "7999" "0" "7999" "0" "c.7999C>T" "r.(?)" "p.(Gln2667*)" "24" "" "0000441983" "00006721" "55" "8019" "0" "8019" "0" "c.8019C>T" "r.(?)" "p.(Asp2673=)" "24" "" "0000441984" "00006721" "55" "8066" "0" "8066" "0" "c.8066A>C" "r.(?)" "p.(Lys2689Thr)" "24" "" "0000441985" "00006721" "55" "8134" "0" "8134" "0" "c.8134G>A" "r.(?)" "p.(Ala2712Thr)" "24" "" "0000441986" "00006721" "55" "8174" "0" "8174" "0" "c.8174G>A" "r.(?)" "p.(Arg2725His)" "24" "" "0000441987" "00006721" "55" "8172" "0" "8172" "0" "c.8172G>Y" "r.(?)" "p.(Gln2724His)" "24" "" "0000441988" "00006721" "55" "8191" "0" "8191" "0" "c.8191T>C" "r.(?)" "p.(Tyr2731His)" "24" "" "0000441989" "00006721" "55" "8269" "0" "8269" "0" "c.8269G>C" "r.(?)" "p.(Asp2757His)" "24" "" "0000441990" "00006721" "55" "8275" "0" "8275" "0" "c.8275C>A" "r.(?)" "p.(Arg2759Ser)" "24" "" "0000441991" "00006721" "55" "8293" "0" "8294" "0" "c.8293_8294insTTGC" "r.(?)" "p.(Gln2765Leufs*23)" "24" "" "0000441992" "00006721" "55" "8455" "0" "8455" "0" "c.8455A>C" "r.(?)" "p.(Met2819Leu)" "24" "" "0000441993" "00006721" "55" "8462" "0" "8462" "0" "c.8462C>T" "r.(?)" "p.(Ser2821Leu)" "24" "" "0000441994" "00006721" "55" "8495" "0" "8495" "0" "c.8495G>T" "r.(?)" "p.(Gly2832Val)" "24" "" "0000441995" "00006721" "55" "8529" "0" "8540" "0" "c.8529_8540del" "r.(?)" "p.(Ser2843_Arg2846del)" "24" "" "0000441996" "00006721" "55" "8531" "0" "8531" "0" "c.8531G>T" "r.(?)" "p.(Gly2844Val)" "24" "" "0000441997" "00006721" "55" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "1" "" "0000441998" "00006721" "55" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "14" "" "0000442441" "00006721" "10" "776" "0" "776" "0" "c.776T>A" "r.(?)" "p.(Leu259Gln)" "6" "" "0000442442" "00006721" "10" "1141" "0" "1141" "0" "c.1141T>G" "r.(?)" "p.(Phe381Val)" "10" "" "0000442443" "00006721" "10" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(=)" "20" "" "0000442444" "00006721" "10" "5213" "0" "5213" "0" "c.5213G>A" "r.(?)" "p.(Arg1738Gln)" "23" "" "0000442445" "00006721" "10" "8472" "0" "8472" "0" "c.8472G>C" "r.(?)" "p.(=)" "24" "" "0000442446" "00006721" "90" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "1" "" "0000442447" "00006721" "90" "7622" "0" "7622" "0" "c.7622G>A" "r.(?)" "p.(Arg2541Lys)" "24" "" "0000442450" "00006721" "50" "4961" "0" "4961" "0" "c.4961T>C" "r.(?)" "p.(Leu1654Pro)" "" "" "0000442454" "00006721" "50" "3764" "0" "3764" "0" "c.3764G>A" "r.(?)" "p.(Arg1255Lys)" "" "" "0000442461" "00006721" "50" "4609" "0" "4609" "0" "c.4609C>T" "r.(?)" "p.(Arg1537Cys)" "" "" "0000442464" "00006721" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000470408" "00006721" "30" "4609" "0" "4609" "0" "c.4609C>T" "r.(?)" "p.(Arg1537Cys)" "" "" "0000471079" "00006721" "90" "7027" "0" "7027" "0" "c.7027G>A" "r.(7027G>A)" "p.(Glu2343Lys)" "" "" "0000471080" "00006721" "90" "790" "0" "790" "0" "c.790G>T" "r.(790G>T)" "p.(Glu264*)" "7" "" "0000471081" "00006721" "90" "3367" "0" "3367" "0" "c.3367A>T" "r.(3367A>T)" "p.(Arg1123*)" "" "" "0000501308" "00006721" "70" "4639" "0" "4639" "0" "c.4639dup" "r.(?)" "p.(Gln1547Profs*80)" "23" "" "0000529499" "00006721" "10" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "" "0000529500" "00006721" "10" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "" "0000529502" "00006721" "10" "2" "0" "3" "0" "c.2_3insA" "r.(?)" "p.(Met1?)" "" "" "0000529503" "00006721" "10" "12" "0" "12" "0" "c.12C>G" "r.(?)" "p.(Asn4Lys)" "" "" "0000529504" "00006721" "30" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Arg27=)" "" "" "0000529505" "00006721" "30" "84" "0" "84" "0" "c.84C>T" "r.(?)" "p.(Tyr28=)" "" "" "0000529506" "00006721" "10" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000529507" "00006721" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000529508" "00006721" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000529509" "00006721" "10" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000529510" "00006721" "50" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(Thr31=)" "" "" "0000529511" "00006721" "30" "104" "0" "104" "0" "c.104G>C" "r.(?)" "p.(Gly35Ala)" "" "" "0000529512" "00006721" "10" "126" "0" "126" "0" "c.126T>C" "r.(?)" "p.(Tyr42=)" "" "" "0000529513" "00006721" "50" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Arg45=)" "" "" "0000529514" "00006721" "50" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Asp)" "" "" "0000529515" "00006721" "30" "137" "0" "137" "0" "c.137G>A" "r.(?)" "p.(Gly46Asp)" "" "" "0000529517" "00006721" "30" "139" "0" "139" "0" "c.139G>C" "r.(?)" "p.(Val47Leu)" "" "" "0000529518" "00006721" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000529519" "00006721" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000529520" "00006721" "30" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000529521" "00006721" "30" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000529522" "00006721" "10" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Gln90Arg)" "" "" "0000529523" "00006721" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Gln90Arg)" "" "" "0000529524" "00006721" "30" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Gln90Arg)" "" "" "0000529525" "00006721" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Gln90Arg)" "" "" "0000529526" "00006721" "50" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "" "0000529527" "00006721" "10" "273" "10" "273" "10" "c.273+10C>T" "r.(=)" "p.(=)" "" "" "0000529528" "00006721" "10" "274" "-31" "274" "-31" "c.274-31T>C" "r.(=)" "p.(=)" "" "" "0000529529" "00006721" "10" "274" "-31" "274" "-31" "c.274-31T>C" "r.(=)" "p.(=)" "" "" "0000529530" "00006721" "30" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Asn115Ser)" "" "" "0000529531" "00006721" "30" "402" "0" "402" "0" "c.402C>T" "r.(?)" "p.(Pro134=)" "" "" "0000529532" "00006721" "10" "423" "-16" "423" "-15" "c.423-16_423-15insC" "r.(=)" "p.(=)" "" "" "0000529533" "00006721" "10" "423" "-16" "423" "-15" "c.423-16_423-15insC" "r.(=)" "p.(=)" "" "" "0000529534" "00006721" "10" "423" "-16" "423" "-15" "c.423-16_423-15insC" "r.(=)" "p.(=)" "" "" "0000529535" "00006721" "10" "423" "-16" "423" "-15" "c.423-16_423-15insC" "r.(=)" "p.(=)" "" "" "0000529536" "00006721" "10" "423" "-9" "423" "-9" "c.423-9dup" "r.(=)" "p.(=)" "" "" "0000529537" "00006721" "10" "522" "0" "522" "0" "c.522T>C" "r.(?)" "p.(Cys174=)" "" "" "0000529538" "00006721" "10" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Val187=)" "" "" "0000529539" "00006721" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Val187=)" "" "" "0000529540" "00006721" "90" "607" "0" "608" "0" "c.607_608insT" "r.(?)" "p.(Asp203ValfsTer17)" "" "" "0000529541" "00006721" "50" "641" "0" "641" "0" "c.641T>C" "r.(?)" "p.(Val214Ala)" "" "" "0000529542" "00006721" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Glu215Lys)" "" "" "0000529543" "00006721" "50" "665" "0" "665" "0" "c.665G>T" "r.(?)" "p.(Arg222Leu)" "" "" "0000529544" "00006721" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232His)" "" "" "0000529545" "00006721" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Ala247Val)" "" "" "0000529546" "00006721" "10" "741" "0" "741" "0" "c.741G>A" "r.(?)" "p.(Ala247=)" "" "" "0000529547" "00006721" "10" "741" "0" "741" "0" "c.741G>A" "r.(?)" "p.(Ala247=)" "" "" "0000529548" "00006721" "30" "741" "0" "741" "0" "c.741G>A" "r.(?)" "p.(Ala247=)" "" "" "0000529549" "00006721" "10" "741" "0" "741" "0" "c.741G>A" "r.(?)" "p.(Ala247=)" "" "" "0000529550" "00006721" "10" "834" "0" "834" "0" "c.834C>T" "r.(?)" "p.(Ala278=)" "" "" "0000529551" "00006721" "50" "857" "0" "857" "0" "c.857T>A" "r.(?)" "p.(Ile286Asn)" "" "" "0000529552" "00006721" "90" "872" "0" "873" "0" "c.872_873dup" "r.(?)" "p.(Glu292ArgfsTer26)" "" "" "0000529553" "00006721" "50" "889" "0" "889" "0" "c.889G>A" "r.(?)" "p.(Asp297Asn)" "" "" "0000529554" "00006721" "10" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Ile305Phe)" "" "" "0000529555" "00006721" "10" "913" "0" "913" "0" "c.913A>T" "r.(?)" "p.(Ile305Phe)" "" "" "0000529556" "00006721" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "" "0000529557" "00006721" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl?" "p.?" "" "" "0000529558" "00006721" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl?" "p.?" "" "" "0000529559" "00006721" "10" "939" "17" "939" "17" "c.939+17C>T" "r.(=)" "p.(=)" "" "" "0000529560" "00006721" "90" "940" "-1" "940" "-1" "c.940-1G>C" "r.spl?" "p.?" "" "" "0000529562" "00006721" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "" "0000529563" "00006721" "30" "981" "0" "981" "0" "c.981T>C" "r.(?)" "p.(Asn327=)" "" "" "0000529564" "00006721" "30" "1045" "-18" "1045" "-18" "c.1045-18G>A" "r.(=)" "p.(=)" "" "" "0000529565" "00006721" "50" "1048" "0" "1048" "0" "c.1048T>C" "r.(?)" "p.(Tyr350His)" "" "" "0000529566" "00006721" "70" "1048" "0" "1048" "0" "c.1048T>C" "r.(?)" "p.(Tyr350His)" "" "" "0000529567" "00006721" "90" "1146" "0" "1146" "0" "c.1146dup" "r.(?)" "p.(Glu383Ter)" "" "" "0000529568" "00006721" "50" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Thr388Ile)" "" "" "0000529570" "00006721" "10" "1266" "6" "1266" "6" "c.1266+6G>T" "r.(=)" "p.(=)" "" "" "0000529571" "00006721" "50" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Arg433His)" "" "" "0000529572" "00006721" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Leu448=)" "" "" "0000529573" "00006721" "30" "1368" "0" "1368" "0" "c.1368A>G" "r.(?)" "p.(Arg456=)" "" "" "0000529574" "00006721" "30" "1419" "9" "1419" "9" "c.1419+9T>C" "r.(=)" "p.(=)" "" "" "0000529575" "00006721" "30" "1419" "18" "1419" "18" "c.1419+18A>C" "r.(=)" "p.(=)" "" "" "0000529577" "00006721" "10" "1481" "0" "1481" "0" "c.1481A>T" "r.(?)" "p.(Tyr494Phe)" "" "" "0000529578" "00006721" "10" "1481" "0" "1481" "0" "c.1481A>T" "r.(?)" "p.(Tyr494Phe)" "" "" "0000529579" "00006721" "30" "1481" "0" "1481" "0" "c.1481A>T" "r.(?)" "p.(Tyr494Phe)" "" "" "0000529580" "00006721" "10" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Thr496=)" "" "" "0000529581" "00006721" "50" "1501" "0" "1501" "0" "c.1501G>A" "r.(?)" "p.(Val501Ile)" "" "" "0000529582" "00006721" "50" "1508" "0" "1508" "0" "c.1508T>C" "r.(?)" "p.(Met503Thr)" "" "" "0000529583" "00006721" "30" "1575" "-4" "1575" "-4" "c.1575-4T>G" "r.spl?" "p.?" "" "" "0000529584" "00006721" "50" "1671" "0" "1671" "0" "c.1671A>G" "r.(?)" "p.(Ile557Met)" "" "" "0000529585" "00006721" "50" "1671" "0" "1671" "0" "c.1671A>G" "r.(?)" "p.(Ile557Met)" "" "" "0000529586" "00006721" "70" "1701" "2" "1701" "2" "c.1701+2T>C" "r.spl?" "p.?" "" "" "0000529587" "00006721" "10" "1702" "-18" "1702" "-18" "c.1702-18C>T" "r.(=)" "p.(=)" "" "" "0000529588" "00006721" "10" "1702" "-18" "1702" "-18" "c.1702-18C>T" "r.(=)" "p.(=)" "" "" "0000529589" "00006721" "30" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "" "" "0000529591" "00006721" "10" "1903" "7" "1903" "7" "c.1903+7T>C" "r.(=)" "p.(=)" "" "" "0000529592" "00006721" "30" "1904" "-17" "1904" "-17" "c.1904-17C>G" "r.(=)" "p.(=)" "" "" "0000529593" "00006721" "10" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Ile640=)" "" "" "0000529594" "00006721" "50" "1949" "0" "1949" "0" "c.1949A>G" "r.(?)" "p.(Asn650Ser)" "" "" "0000529595" "00006721" "30" "1949" "0" "1949" "0" "c.1949A>G" "r.(?)" "p.(Asn650Ser)" "" "" "0000529596" "00006721" "30" "2073" "0" "2073" "0" "c.2073C>T" "r.(?)" "p.(Leu691=)" "" "" "0000529597" "00006721" "10" "2121" "0" "2121" "0" "c.2121C>T" "r.(?)" "p.(Asn707=)" "" "" "0000529598" "00006721" "30" "2121" "0" "2121" "0" "c.2121C>T" "r.(?)" "p.(Asn707=)" "" "" "0000529599" "00006721" "50" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Glu721Lys)" "" "" "0000529601" "00006721" "10" "2298" "-38" "2298" "-38" "c.2298-38T>C" "r.(=)" "p.(=)" "" "" "0000529602" "00006721" "10" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Asp782=)" "" "" "0000529603" "00006721" "50" "2411" "0" "2411" "0" "c.2411T>C" "r.(?)" "p.(Val804Ala)" "" "" "0000529604" "00006721" "30" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "" "0000529605" "00006721" "30" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "" "0000529606" "00006721" "30" "2437" "-20" "2437" "-20" "c.2437-20T>G" "r.(=)" "p.(=)" "" "" "0000529607" "00006721" "30" "2437" "-20" "2437" "-20" "c.2437-20T>G" "r.(=)" "p.(=)" "" "" "0000529610" "00006721" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "" "0000529611" "00006721" "10" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Cys)" "" "" "0000529612" "00006721" "30" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Arg866Cys)" "" "" "0000529613" "00006721" "10" "2630" "18" "2630" "18" "c.2630+18C>T" "r.(=)" "p.(=)" "" "" "0000529614" "00006721" "30" "2631" "-5" "2631" "-5" "c.2631-5C>T" "r.spl?" "p.?" "" "" "0000529615" "00006721" "70" "2631" "-2" "2631" "-2" "c.2631-2A>T" "r.spl?" "p.?" "" "" "0000529616" "00006721" "10" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Arg877=)" "" "" "0000529617" "00006721" "30" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Arg889Lys)" "" "" "0000529618" "00006721" "10" "2673" "0" "2673" "0" "c.2673T>C" "r.(?)" "p.(Tyr891=)" "" "" "0000529619" "00006721" "10" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908His)" "" "" "0000529620" "00006721" "30" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908His)" "" "" "0000529621" "00006721" "30" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908His)" "" "" "0000529622" "00006721" "30" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908His)" "" "" "0000529623" "00006721" "10" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Arg925Trp)" "" "" "0000529624" "00006721" "30" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Arg925Gln)" "" "" "0000529626" "00006721" "10" "2794" "-4" "2794" "-4" "c.2794-4dup" "r.spl?" "p.?" "" "" "0000529627" "00006721" "30" "2794" "0" "2794" "0" "c.2794A>G" "r.(?)" "p.(Asn932Asp)" "" "" "0000529628" "00006721" "30" "2809" "0" "2809" "0" "c.2809A>G" "r.(?)" "p.(Ile937Val)" "" "" "0000529629" "00006721" "90" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Arg941Ter)" "" "" "0000529630" "00006721" "90" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Arg941Ter)" "" "" "0000529631" "00006721" "30" "2835" "0" "2835" "0" "c.2835G>A" "r.(?)" "p.(Glu945=)" "" "" "0000529632" "00006721" "10" "2862" "0" "2862" "0" "c.2862C>T" "r.(?)" "p.(Cys954=)" "" "" "0000529633" "00006721" "30" "2901" "0" "2901" "0" "c.2901A>G" "r.(?)" "p.(Ser967=)" "" "" "0000529634" "00006721" "50" "2933" "0" "2933" "0" "c.2933T>A" "r.(?)" "p.(Ile978Lys)" "" "" "0000529635" "00006721" "50" "2941" "0" "2941" "0" "c.2941A>G" "r.(?)" "p.(Lys981Glu)" "" "" "0000529636" "00006721" "30" "2941" "0" "2941" "0" "c.2941A>G" "r.(?)" "p.(Lys981Glu)" "" "" "0000529637" "00006721" "10" "2986" "-6" "2986" "-6" "c.2986-6T>A" "r.(=)" "p.(=)" "" "" "0000529638" "00006721" "30" "2986" "-6" "2986" "-6" "c.2986-6T>A" "r.(=)" "p.(=)" "" "" "0000529639" "00006721" "10" "3084" "24" "3084" "24" "c.3084+24T>G" "r.(=)" "p.(=)" "" "" "0000529640" "00006721" "10" "3084" "28" "3084" "28" "c.3084+28G>A" "r.(=)" "p.(=)" "" "" "0000529641" "00006721" "50" "3085" "-3" "3085" "-3" "c.3085-3C>T" "r.spl?" "p.?" "" "" "0000529642" "00006721" "70" "3133" "0" "3133" "0" "c.3133C>T" "r.(?)" "p.(Arg1045Ter)" "" "" "0000529643" "00006721" "50" "3146" "0" "3146" "0" "c.3146C>G" "r.(?)" "p.(Ser1049Trp)" "" "" "0000529644" "00006721" "30" "3146" "0" "3146" "0" "c.3146C>T" "r.(?)" "p.(Ser1049Leu)" "" "" "0000529645" "00006721" "50" "3272" "0" "3272" "0" "c.3272A>G" "r.(?)" "p.(Lys1091Arg)" "" "" "0000529646" "00006721" "30" "3288" "0" "3288" "0" "c.3288T>C" "r.(?)" "p.(Asn1096=)" "" "" "0000529647" "00006721" "50" "3294" "0" "3294" "0" "c.3294C>G" "r.(?)" "p.(Asp1098Glu)" "" "" "0000529648" "00006721" "30" "3294" "0" "3294" "0" "c.3294C>G" "r.(?)" "p.(Asp1098Glu)" "" "" "0000529649" "00006721" "70" "3383" "0" "3384" "0" "c.3383_3384del" "r.(?)" "p.(Val1128GlyfsTer5)" "" "" "0000529651" "00006721" "70" "3465" "0" "3465" "0" "c.3465G>A" "r.(?)" "p.(Trp1155Ter)" "" "" "0000529652" "00006721" "30" "3507" "0" "3507" "0" "c.3507C>T" "r.(?)" "p.(Tyr1169=)" "" "" "0000529653" "00006721" "10" "3510" "0" "3510" "0" "c.3510G>A" "r.(?)" "p.(Glu1170=)" "" "" "0000529654" "00006721" "50" "3609" "0" "3610" "0" "c.3609_3610delinsAG" "r.(?)" "p.(Met1203_Ser1204delinsIleGly)" "" "" "0000529655" "00006721" "50" "3644" "0" "3644" "0" "c.3644A>G" "r.(?)" "p.(Asn1215Ser)" "" "" "0000529656" "00006721" "30" "3650" "0" "3650" "0" "c.3650C>T" "r.(?)" "p.(Thr1217Met)" "" "" "0000529657" "00006721" "30" "3650" "0" "3650" "0" "c.3650C>T" "r.(?)" "p.(Thr1217Met)" "" "" "0000529658" "00006721" "30" "3862" "0" "3862" "0" "c.3862A>C" "r.(?)" "p.(Lys1288Gln)" "" "" "0000529659" "00006721" "50" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "" "" "0000529660" "00006721" "50" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "" "" "0000529661" "00006721" "30" "3877" "0" "3877" "0" "c.3877A>G" "r.(?)" "p.(Ile1293Val)" "" "" "0000529663" "00006721" "30" "3923" "0" "3923" "0" "c.3923G>A" "r.(?)" "p.(Arg1308Gln)" "" "" "0000529664" "00006721" "10" "3923" "0" "3923" "0" "c.3923G>A" "r.(?)" "p.(Arg1308Gln)" "" "" "0000529665" "00006721" "10" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Gln1321=)" "" "" "0000529666" "00006721" "10" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Gln1321=)" "" "" "0000529667" "00006721" "10" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Gln1321=)" "" "" "0000529668" "00006721" "30" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Gln1321=)" "" "" "0000529669" "00006721" "10" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Gln1321=)" "" "" "0000529670" "00006721" "50" "3982" "0" "3982" "0" "c.3982G>A" "r.(?)" "p.(Glu1328Lys)" "" "" "0000529671" "00006721" "10" "4141" "0" "4141" "0" "c.4141A>T" "r.(?)" "p.(Thr1381Ser)" "" "" "0000529672" "00006721" "50" "4199" "0" "4199" "0" "c.4199G>A" "r.(?)" "p.(Arg1400Gln)" "" "" "0000529673" "00006721" "30" "4245" "0" "4245" "0" "c.4245T>G" "r.(?)" "p.(Thr1415=)" "" "" "0000529674" "00006721" "30" "4255" "0" "4255" "0" "c.4255A>T" "r.(?)" "p.(Thr1419Ser)" "" "" "0000529675" "00006721" "10" "4372" "0" "4372" "0" "c.4372C>G" "r.(?)" "p.(Arg1458Gly)" "" "" "0000529676" "00006721" "30" "4372" "0" "4372" "0" "c.4372C>G" "r.(?)" "p.(Arg1458Gly)" "" "" "0000529677" "00006721" "30" "4372" "0" "4372" "0" "c.4372C>G" "r.(?)" "p.(Arg1458Gly)" "" "" "0000529678" "00006721" "30" "4372" "0" "4372" "0" "c.4372C>G" "r.(?)" "p.(Arg1458Gly)" "" "" "0000529679" "00006721" "30" "4387" "0" "4387" "0" "c.4387G>A" "r.(?)" "p.(Val1463Ile)" "" "" "0000529680" "00006721" "10" "4455" "0" "4455" "0" "c.4455G>T" "r.(?)" "p.(Arg1485Ser)" "" "" "0000529681" "00006721" "10" "4455" "0" "4455" "0" "c.4455G>T" "r.(?)" "p.(Arg1485Ser)" "" "" "0000529682" "00006721" "10" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497Trp)" "" "" "0000529683" "00006721" "50" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497Trp)" "" "" "0000529684" "00006721" "30" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497Trp)" "" "" "0000529685" "00006721" "30" "4492" "0" "4492" "0" "c.4492A>G" "r.(?)" "p.(Lys1498Glu)" "" "" "0000529686" "00006721" "10" "4535" "0" "4535" "0" "c.4535A>G" "r.(?)" "p.(Tyr1512Cys)" "" "" "0000529687" "00006721" "30" "4602" "0" "4602" "0" "c.4602A>G" "r.(?)" "p.(Glu1534=)" "" "" "0000529689" "00006721" "50" "4679" "0" "4679" "0" "c.4679A>G" "r.(?)" "p.(Gln1560Arg)" "" "" "0000529690" "00006721" "50" "4696" "0" "4696" "0" "c.4696C>G" "r.(?)" "p.(Leu1566Val)" "" "" "0000529692" "00006721" "10" "4773" "0" "4773" "0" "c.4773G>A" "r.(?)" "p.(Arg1591=)" "" "" "0000529693" "00006721" "30" "4775" "0" "4775" "0" "c.4775A>G" "r.(?)" "p.(Lys1592Arg)" "" "" "0000529694" "00006721" "50" "4783" "0" "4783" "0" "c.4783G>C" "r.(?)" "p.(Glu1595Gln)" "" "" "0000529696" "00006721" "30" "4914" "0" "4914" "0" "c.4914C>T" "r.(?)" "p.(Asp1638=)" "" "" "0000529697" "00006721" "50" "4915" "0" "4915" "0" "c.4915G>A" "r.(?)" "p.(Val1639Met)" "" "" "0000529698" "00006721" "30" "4915" "0" "4915" "0" "c.4915G>A" "r.(?)" "p.(Val1639Met)" "" "" "0000529699" "00006721" "50" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(His1679Tyr)" "" "" "0000529700" "00006721" "50" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(His1679Tyr)" "" "" "0000529702" "00006721" "70" "5130" "0" "5130" "0" "c.5130dup" "r.(?)" "p.(Glu1711ArgfsTer23)" "" "" "0000529703" "00006721" "50" "5174" "0" "5174" "0" "c.5174G>A" "r.(?)" "p.(Arg1725Gln)" "" "" "0000529704" "00006721" "50" "5180" "0" "5180" "0" "c.5180T>C" "r.(?)" "p.(Leu1727Pro)" "" "" "0000529705" "00006721" "10" "5213" "0" "5213" "0" "c.5213G>A" "r.(?)" "p.(Arg1738Gln)" "" "" "0000529706" "00006721" "10" "5218" "0" "5218" "0" "c.5218G>A" "r.(?)" "p.(Glu1740Lys)" "" "" "0000529707" "00006721" "30" "5218" "0" "5218" "0" "c.5218G>A" "r.(?)" "p.(Glu1740Lys)" "" "" "0000529708" "00006721" "30" "5218" "0" "5218" "0" "c.5218G>A" "r.(?)" "p.(Glu1740Lys)" "" "" "0000529709" "00006721" "30" "5218" "0" "5218" "0" "c.5218G>A" "r.(?)" "p.(Glu1740Lys)" "" "" "0000529710" "00006721" "30" "5218" "0" "5218" "0" "c.5218G>A" "r.(?)" "p.(Glu1740Lys)" "" "" "0000529711" "00006721" "30" "5304" "0" "5304" "0" "c.5304G>C" "r.(?)" "p.(Gly1768=)" "" "" "0000529712" "00006721" "10" "5316" "0" "5316" "0" "c.5316T>C" "r.(?)" "p.(Asp1772=)" "" "" "0000529713" "00006721" "50" "5324" "0" "5324" "0" "c.5324G>T" "r.(?)" "p.(Arg1775Ile)" "" "" "0000529714" "00006721" "50" "5363" "0" "5363" "0" "c.5363A>G" "r.(?)" "p.(Gln1788Arg)" "" "" "0000529718" "00006721" "10" "5380" "-95" "5380" "-95" "c.5380-95del" "r.(=)" "p.(=)" "" "" "0000529722" "00006721" "10" "5498" "0" "5498" "0" "c.5498A>T" "r.(?)" "p.(Glu1833Val)" "" "" "0000529723" "00006721" "30" "5523" "0" "5523" "0" "c.5523A>C" "r.(?)" "p.(Ser1841=)" "" "" "0000529724" "00006721" "30" "5593" "0" "5593" "0" "c.5593A>T" "r.(?)" "p.(Asn1865Tyr)" "" "" "0000529725" "00006721" "30" "5655" "0" "5655" "0" "c.5655A>G" "r.(?)" "p.(Arg1885=)" "" "" "0000529726" "00006721" "30" "5680" "0" "5680" "0" "c.5680A>C" "r.(?)" "p.(Ser1894Arg)" "" "" "0000529727" "00006721" "30" "5795" "0" "5795" "0" "c.5795G>A" "r.(?)" "p.(Arg1932His)" "" "" "0000529729" "00006721" "50" "6059" "0" "6059" "0" "c.6059G>C" "r.(?)" "p.(Gly2020Ala)" "" "" "0000529730" "00006721" "50" "6059" "0" "6059" "0" "c.6059G>C" "r.(?)" "p.(Gly2020Ala)" "" "" "0000529731" "00006721" "50" "6073" "0" "6073" "0" "c.6073C>T" "r.(?)" "p.(Pro2025Ser)" "" "" "0000529732" "00006721" "30" "6075" "0" "6075" "0" "c.6075T>A" "r.(?)" "p.(Pro2025=)" "" "" "0000529733" "00006721" "90" "6092" "0" "6092" "0" "c.6092del" "r.(?)" "p.(Leu2031TrpfsTer2)" "" "" "0000529734" "00006721" "50" "6137" "0" "6137" "0" "c.6137T>G" "r.(?)" "p.(Val2046Gly)" "" "" "0000529735" "00006721" "30" "6207" "0" "6207" "0" "c.6207C>T" "r.(?)" "p.(Val2069=)" "" "" "0000529737" "00006721" "50" "6223" "0" "6223" "0" "c.6223C>T" "r.(?)" "p.(Arg2075Trp)" "" "" "0000529738" "00006721" "50" "6233" "0" "6233" "0" "c.6233T>C" "r.(?)" "p.(Ile2078Thr)" "" "" "0000529739" "00006721" "50" "6368" "0" "6368" "0" "c.6368G>A" "r.(?)" "p.(Arg2123His)" "" "" "0000529740" "00006721" "10" "6390" "0" "6390" "0" "c.6390T>C" "r.(?)" "p.(Ala2130=)" "" "" "0000529742" "00006721" "30" "6423" "0" "6423" "0" "c.6423C>A" "r.(?)" "p.(Val2141=)" "" "" "0000529743" "00006721" "30" "6423" "0" "6423" "0" "c.6423C>A" "r.(?)" "p.(Val2141=)" "" "" "0000529744" "00006721" "50" "6451" "0" "6451" "0" "c.6451C>T" "r.(?)" "p.(Arg2151Trp)" "" "" "0000529745" "00006721" "70" "6478" "0" "6478" "0" "c.6478C>T" "r.(?)" "p.(Arg2160Ter)" "" "" "0000529747" "00006721" "50" "6565" "0" "6565" "0" "c.6565C>T" "r.(?)" "p.(Arg2189Trp)" "" "" "0000529748" "00006721" "10" "6655" "0" "6655" "0" "c.6655G>A" "r.(?)" "p.(Val2219Ile)" "" "" "0000529749" "00006721" "10" "6678" "0" "6678" "0" "c.6678T>A" "r.(?)" "p.(Gly2226=)" "" "" "0000529750" "00006721" "30" "6881" "0" "6881" "0" "c.6881C>G" "r.(?)" "p.(Ala2294Gly)" "" "" "0000529753" "00006721" "30" "7014" "0" "7014" "0" "c.7014G>A" "r.(?)" "p.(Gly2338=)" "" "" "0000529754" "00006721" "50" "7078" "0" "7078" "0" "c.7078G>A" "r.(?)" "p.(Glu2360Lys)" "" "" "0000529755" "00006721" "10" "7089" "0" "7089" "0" "c.7089C>T" "r.(?)" "p.(His2363=)" "" "" "0000529756" "00006721" "10" "7122" "0" "7122" "0" "c.7122C>T" "r.(?)" "p.(Thr2374=)" "" "" "0000529757" "00006721" "30" "7125" "0" "7125" "0" "c.7125G>A" "r.(?)" "p.(Gly2375=)" "" "" "0000529758" "00006721" "50" "7196" "0" "7196" "0" "c.7196A>G" "r.(?)" "p.(Glu2399Gly)" "" "" "0000529760" "00006721" "50" "7498" "0" "7498" "0" "c.7498G>A" "r.(?)" "p.(Glu2500Lys)" "" "" "0000529762" "00006721" "50" "7586" "0" "7586" "0" "c.7586A>G" "r.(?)" "p.(Asp2529Gly)" "" "" "0000529764" "00006721" "50" "7772" "0" "7772" "0" "c.7772G>T" "r.(?)" "p.(Ser2591Ile)" "" "" "0000529765" "00006721" "70" "7773" "0" "7776" "0" "c.7773_7776del" "r.(?)" "p.(Ser2591ArgfsTer11)" "" "" "0000529766" "00006721" "30" "7794" "0" "7794" "0" "c.7794C>T" "r.(?)" "p.(Ser2598=)" "" "" "0000529767" "00006721" "10" "7848" "0" "7848" "0" "c.7848G>A" "r.(?)" "p.(Ser2616=)" "" "" "0000529768" "00006721" "30" "7924" "0" "7924" "0" "c.7924G>A" "r.(?)" "p.(Val2642Ile)" "" "" "0000529769" "00006721" "30" "7994" "0" "7994" "0" "c.7994C>T" "r.(?)" "p.(Thr2665Met)" "" "" "0000529770" "00006721" "50" "7994" "0" "7994" "0" "c.7994C>T" "r.(?)" "p.(Thr2665Met)" "" "" "0000529771" "00006721" "10" "7995" "0" "7995" "0" "c.7995G>A" "r.(?)" "p.(Thr2665=)" "" "" "0000529772" "00006721" "10" "7995" "0" "7995" "0" "c.7995G>A" "r.(?)" "p.(Thr2665=)" "" "" "0000529773" "00006721" "10" "7995" "0" "7995" "0" "c.7995G>A" "r.(?)" "p.(Thr2665=)" "" "" "0000529774" "00006721" "50" "8014" "0" "8014" "0" "c.8014C>G" "r.(?)" "p.(Gln2672Glu)" "" "" "0000529775" "00006721" "10" "8175" "0" "8175" "0" "c.8175C>A" "r.(?)" "p.(Arg2725=)" "" "" "0000529776" "00006721" "10" "8199" "0" "8199" "0" "c.8199G>C" "r.(?)" "p.(Thr2733=)" "" "" "0000529777" "00006721" "50" "8230" "0" "8230" "0" "c.8230A>G" "r.(?)" "p.(Arg2744Gly)" "" "" "0000529778" "00006721" "50" "8255" "0" "8255" "0" "c.8255G>A" "r.(?)" "p.(Arg2752Gln)" "" "" "0000529779" "00006721" "10" "8268" "0" "8268" "0" "c.8268A>C" "r.(?)" "p.(Ile2756=)" "" "" "0000529780" "00006721" "10" "8300" "0" "8300" "0" "c.8300C>A" "r.(?)" "p.(Thr2767Asn)" "" "" "0000529781" "00006721" "30" "8300" "0" "8300" "0" "c.8300C>G" "r.(?)" "p.(Thr2767Ser)" "" "" "0000529782" "00006721" "50" "8300" "0" "8300" "0" "c.8300C>G" "r.(?)" "p.(Thr2767Ser)" "" "" "0000529783" "00006721" "30" "8301" "0" "8301" "0" "c.8301C>G" "r.(?)" "p.(Thr2767=)" "" "" "0000529784" "00006721" "30" "8301" "0" "8301" "0" "c.8301C>G" "r.(?)" "p.(Thr2767=)" "" "" "0000529785" "00006721" "30" "8310" "0" "8310" "0" "c.8310T>C" "r.(?)" "p.(Tyr2770=)" "" "" "0000529786" "00006721" "50" "8387" "0" "8387" "0" "c.8387A>T" "r.(?)" "p.(Asp2796Val)" "" "" "0000529787" "00006721" "50" "8392" "0" "8392" "0" "c.8392A>T" "r.(?)" "p.(Thr2798Ser)" "" "" "0000529788" "00006721" "30" "8394" "0" "8394" "0" "c.8394T>A" "r.(?)" "p.(Thr2798=)" "" "" "0000529789" "00006721" "30" "8394" "0" "8394" "0" "c.8394T>A" "r.(?)" "p.(Thr2798=)" "" "" "0000529790" "00006721" "50" "8458" "0" "8458" "0" "c.8458T>C" "r.(?)" "p.(Ser2820Pro)" "" "" "0000529791" "00006721" "50" "8462" "0" "8462" "0" "c.8462C>T" "r.(?)" "p.(Ser2821Leu)" "" "" "0000529792" "00006721" "10" "8472" "0" "8472" "0" "c.8472G>C" "r.(?)" "p.(Gly2824=)" "" "" "0000529793" "00006721" "10" "8481" "0" "8481" "0" "c.8481C>T" "r.(?)" "p.(Ser2827=)" "" "" "0000529794" "00006721" "10" "8481" "0" "8481" "0" "c.8481C>T" "r.(?)" "p.(Ser2827=)" "" "" "0000529795" "00006721" "30" "8482" "0" "8482" "0" "c.8482G>A" "r.(?)" "p.(Gly2828Ser)" "" "" "0000529797" "00006721" "10" "8605" "0" "8605" "0" "c.8605A>G" "r.(?)" "p.(Ile2869Val)" "" "" "0000529798" "00006721" "10" "8625" "0" "8625" "0" "c.*9T>A" "r.(=)" "p.(=)" "" "" "0000529799" "00006721" "50" "8625" "0" "8625" "0" "c.*9T>A" "r.(=)" "p.(=)" "" "" "0000529800" "00006721" "30" "8625" "0" "8625" "0" "c.*9T>A" "r.(=)" "p.(=)" "" "" "0000529801" "00006721" "10" "8625" "0" "8625" "0" "c.*9T>A" "r.(=)" "p.(=)" "" "" "0000610438" "00006721" "10" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "" "0000610439" "00006721" "90" "40" "0" "41" "0" "c.40_41del" "r.(?)" "p.(Leu14GlyfsTer78)" "" "" "0000610440" "00006721" "50" "44" "0" "44" "0" "c.44G>A" "r.(?)" "p.(Gly15Asp)" "" "" "0000610441" "00006721" "50" "53" "0" "53" "0" "c.53T>C" "r.(?)" "p.(Ile18Thr)" "" "" "0000610442" "00006721" "30" "81" "0" "81" "0" "c.81C>A" "r.(?)" "p.(Arg27=)" "" "" "0000610445" "00006721" "10" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000610446" "00006721" "10" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Gly35=)" "" "" "0000610448" "00006721" "30" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "" "" "0000610449" "00006721" "30" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199Lys)" "" "" "0000610450" "00006721" "30" "727" "-10" "727" "-10" "c.727-10T>G" "r.(=)" "p.(=)" "" "" "0000610451" "00006721" "10" "939" "0" "939" "0" "c.939C>T" "r.(?)" "p.(Ser313=)" "" "" "0000610452" "00006721" "70" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Leu326Pro)" "" "" "0000610453" "00006721" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Gln434=)" "" "" "0000610454" "00006721" "10" "1481" "0" "1481" "0" "c.1481A>T" "r.(?)" "p.(Tyr494Phe)" "" "" "0000610455" "00006721" "30" "1824" "0" "1824" "0" "c.1824A>G" "r.(?)" "p.(Ile608Met)" "" "" "0000610456" "00006721" "30" "1903" "4" "1903" "4" "c.1903+4G>A" "r.spl?" "p.?" "" "" "0000610457" "00006721" "30" "2247" "0" "2247" "0" "c.2247A>G" "r.(?)" "p.(Leu749=)" "" "" "0000610458" "00006721" "50" "2333" "0" "2333" "0" "c.2333T>C" "r.(?)" "p.(Leu778Pro)" "" "" "0000610459" "00006721" "30" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "" "0000610460" "00006721" "30" "2437" "-7" "2437" "-7" "c.2437-7C>T" "r.(=)" "p.(=)" "" "" "0000610461" "00006721" "50" "2684" "0" "2684" "0" "c.2684A>G" "r.(?)" "p.(Tyr895Cys)" "" "" "0000610462" "00006721" "10" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908His)" "" "" "0000610463" "00006721" "50" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Arg925Gln)" "" "" "0000610464" "00006721" "10" "2815" "0" "2815" "0" "c.2815G>A" "r.(?)" "p.(Gly939Ser)" "" "" "0000610466" "00006721" "30" "2863" "0" "2863" "0" "c.2863G>A" "r.(?)" "p.(Ala955Thr)" "" "" "0000610467" "00006721" "90" "3054" "0" "3055" "0" "c.3054_3055del" "r.(?)" "p.(Ser1018ArgfsTer35)" "" "" "0000610468" "00006721" "30" "3147" "0" "3147" "0" "c.3147G>A" "r.(?)" "p.(Ser1049=)" "" "" "0000610469" "00006721" "30" "3303" "0" "3303" "0" "c.3303C>T" "r.(?)" "p.(Tyr1101=)" "" "" "0000610470" "00006721" "90" "3337" "0" "3337" "0" "c.3337C>T" "r.(?)" "p.(Arg1113Ter)" "" "" "0000610471" "00006721" "90" "3337" "0" "3337" "0" "c.3337C>T" "r.(?)" "p.(Arg1113Ter)" "" "" "0000610473" "00006721" "30" "3456" "0" "3456" "0" "c.3456C>A" "r.(?)" "p.(Asn1152Lys)" "" "" "0000610474" "00006721" "90" "3488" "0" "3495" "0" "c.3488_3495del" "r.(?)" "p.(Ala1163GlyfsTer7)" "" "" "0000610475" "00006721" "50" "3706" "0" "3706" "0" "c.3706A>G" "r.(?)" "p.(Arg1236Gly)" "" "" "0000610476" "00006721" "30" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "" "" "0000610477" "00006721" "70" "3889" "0" "3889" "0" "c.3889C>T" "r.(?)" "p.(Gln1297Ter)" "" "" "0000610478" "00006721" "50" "3905" "0" "3905" "0" "c.3905G>A" "r.(?)" "p.(Arg1302His)" "" "" "0000610479" "00006721" "10" "4065" "0" "4065" "0" "c.4065T>C" "r.(?)" "p.(Tyr1355=)" "" "" "0000610480" "00006721" "10" "4372" "0" "4372" "0" "c.4372C>G" "r.(?)" "p.(Arg1458Gly)" "" "" "0000610481" "00006721" "10" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Glu1461=)" "" "" "0000610482" "00006721" "30" "4447" "0" "4447" "0" "c.4447A>T" "r.(?)" "p.(Ile1483Leu)" "" "" "0000610483" "00006721" "50" "4492" "0" "4492" "0" "c.4492A>G" "r.(?)" "p.(Lys1498Glu)" "" "" "0000610484" "00006721" "30" "4749" "0" "4749" "0" "c.4749C>T" "r.(?)" "p.(Thr1583=)" "" "" "0000610485" "00006721" "30" "4961" "0" "4961" "0" "c.4961T>C" "r.(?)" "p.(Leu1654Pro)" "" "" "0000610486" "00006721" "30" "4997" "0" "4997" "0" "c.4997G>A" "r.(?)" "p.(Arg1666Gln)" "" "" "0000610487" "00006721" "50" "5174" "0" "5174" "0" "c.5174G>A" "r.(?)" "p.(Arg1725Gln)" "" "" "0000610488" "00006721" "50" "5265" "0" "5265" "0" "c.5265G>C" "r.(?)" "p.(Gln1755His)" "" "" "0000610491" "00006721" "30" "5463" "0" "5463" "0" "c.5463C>T" "r.(?)" "p.(Val1821=)" "" "" "0000610492" "00006721" "50" "5593" "0" "5593" "0" "c.5593A>T" "r.(?)" "p.(Asn1865Tyr)" "" "" "0000610493" "00006721" "50" "5609" "0" "5609" "0" "c.5609A>G" "r.(?)" "p.(Gln1870Arg)" "" "" "0000610494" "00006721" "90" "5823" "0" "5823" "0" "c.5823del" "r.(?)" "p.(Lys1941AsnfsTer31)" "" "" "0000610495" "00006721" "30" "5844" "0" "5844" "0" "c.5844G>C" "r.(?)" "p.(Gly1948=)" "" "" "0000610497" "00006721" "50" "5984" "0" "5984" "0" "c.5984T>G" "r.(?)" "p.(Leu1995Trp)" "" "" "0000610498" "00006721" "50" "6319" "0" "6319" "0" "c.6319G>C" "r.(?)" "p.(Val2107Leu)" "" "" "0000610499" "00006721" "50" "6397" "0" "6397" "0" "c.6397G>A" "r.(?)" "p.(Gly2133Ser)" "" "" "0000610500" "00006721" "50" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Ala2148Thr)" "" "" "0000610501" "00006721" "30" "6550" "0" "6550" "0" "c.6550G>A" "r.(?)" "p.(Val2184Met)" "" "" "0000610502" "00006721" "50" "6917" "0" "6917" "0" "c.6917G>A" "r.(?)" "p.(Ser2306Asn)" "" "" "0000610503" "00006721" "30" "6930" "0" "6930" "0" "c.6930A>G" "r.(?)" "p.(Leu2310=)" "" "" "0000610504" "00006721" "70" "7066" "0" "7066" "0" "c.7066A>T" "r.(?)" "p.(Lys2356Ter)" "" "" "0000610505" "00006721" "30" "7168" "0" "7168" "0" "c.7168A>G" "r.(?)" "p.(Ile2390Val)" "" "" "0000610506" "00006721" "50" "7585" "0" "7585" "0" "c.7585G>A" "r.(?)" "p.(Asp2529Asn)" "" "" "0000610507" "00006721" "50" "7586" "0" "7586" "0" "c.7586A>G" "r.(?)" "p.(Asp2529Gly)" "" "" "0000610508" "00006721" "50" "7671" "0" "7671" "0" "c.7671T>A" "r.(?)" "p.(Phe2557Leu)" "" "" "0000610509" "00006721" "50" "7745" "0" "7745" "0" "c.7745T>G" "r.(?)" "p.(Phe2582Cys)" "" "" "0000610510" "00006721" "50" "7823" "0" "7823" "0" "c.7823C>A" "r.(?)" "p.(Ser2608Tyr)" "" "" "0000610511" "00006721" "50" "8030" "0" "8030" "0" "c.8030A>G" "r.(?)" "p.(Gln2677Arg)" "" "" "0000610512" "00006721" "30" "8211" "0" "8211" "0" "c.8211T>G" "r.(?)" "p.(Val2737=)" "" "" "0000610513" "00006721" "30" "8277" "0" "8277" "0" "c.8277C>T" "r.(?)" "p.(Arg2759=)" "" "" "0000610514" "00006721" "50" "8531" "0" "8531" "0" "c.8531G>T" "r.(?)" "p.(Gly2844Val)" "" "" "0000610515" "00006721" "30" "8625" "0" "8625" "0" "c.*9T>A" "r.(=)" "p.(=)" "" "" "0000621750" "00006721" "50" "82" "0" "82" "0" "c.82T>G" "r.(?)" "p.(Tyr28Asp)" "" "" "0000621751" "00006721" "50" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265Lys)" "" "" "0000621752" "00006721" "50" "1088" "0" "1088" "0" "c.1088A>C" "r.(?)" "p.(Gln363Pro)" "" "" "0000621753" "00006721" "50" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Leu466Phe)" "" "" "0000621754" "00006721" "50" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Arg892His)" "" "" "0000621755" "00006721" "30" "2757" "0" "2757" "0" "c.2757T>G" "r.(?)" "p.(Asp919Glu)" "" "" "0000621756" "00006721" "50" "2822" "0" "2822" "0" "c.2822G>A" "r.(?)" "p.(Arg941Gln)" "" "" "0000621757" "00006721" "30" "4019" "0" "4019" "0" "c.4019G>A" "r.(?)" "p.(Arg1340His)" "" "" "0000621758" "00006721" "10" "5283" "0" "5283" "0" "c.5283C>T" "r.(?)" "p.(Asn1761=)" "" "" "0000621759" "00006721" "90" "5312" "0" "5312" "0" "c.5312del" "r.(?)" "p.(Asn1771MetfsTer10)" "" "" "0000621760" "00006721" "50" "5795" "0" "5795" "0" "c.5795G>A" "r.(?)" "p.(Arg1932His)" "" "" "0000621761" "00006721" "30" "5798" "0" "5798" "0" "c.5798C>T" "r.(?)" "p.(Ser1933Phe)" "" "" "0000621762" "00006721" "50" "6073" "0" "6073" "0" "c.6073C>T" "r.(?)" "p.(Pro2025Ser)" "" "" "0000621763" "00006721" "10" "6207" "0" "6207" "0" "c.6207C>T" "r.(?)" "p.(Val2069=)" "" "" "0000621764" "00006721" "50" "7915" "0" "7915" "0" "c.7915C>T" "r.(?)" "p.(Arg2639Trp)" "" "" "0000621765" "00006721" "10" "7916" "0" "7916" "0" "c.7916G>A" "r.(?)" "p.(Arg2639Gln)" "" "" "0000621766" "00006721" "50" "8500" "0" "8500" "0" "c.8500C>T" "r.(?)" "p.(Arg2834Cys)" "" "" "0000621767" "00006721" "10" "8616" "0" "8616" "0" "c.8616G>A" "r.(?)" "p.(Ter2872=)" "" "" "0000652040" "00006721" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000652041" "00006721" "30" "105" "0" "105" "0" "c.105G>A" "r.(=)" "p.(=)" "" "" "0000652042" "00006721" "50" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Gln90Arg)" "" "" "0000652043" "00006721" "70" "1615" "0" "1615" "0" "c.1615C>T" "r.(?)" "p.(Gln539*)" "" "" "0000652044" "00006721" "50" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" "" "0000652045" "00006721" "50" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Asn593Ser)" "" "" "0000652046" "00006721" "50" "2684" "0" "2684" "0" "c.2684A>G" "r.(?)" "p.(Tyr895Cys)" "" "" "0000652047" "00006721" "50" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Arg925Trp)" "" "" "0000652049" "00006721" "50" "3862" "0" "3862" "0" "c.3862A>C" "r.(?)" "p.(Lys1288Gln)" "" "" "0000652050" "00006721" "30" "4609" "0" "4609" "0" "c.4609C>T" "r.(?)" "p.(Arg1537Cys)" "" "" "0000652052" "00006721" "50" "5167" "0" "5167" "0" "c.5167G>C" "r.(?)" "p.(Glu1723Gln)" "" "" "0000652053" "00006721" "50" "5555" "0" "5555" "0" "c.5555G>A" "r.(?)" "p.(Arg1852His)" "" "" "0000652054" "00006721" "50" "6208" "0" "6208" "0" "c.6208G>A" "r.(?)" "p.(Asp2070Asn)" "" "" "0000652056" "00006721" "30" "6390" "0" "6390" "0" "c.6390T>C" "r.(=)" "p.(=)" "" "" "0000652060" "00006721" "50" "7916" "0" "7916" "0" "c.7916G>A" "r.(?)" "p.(Arg2639Gln)" "" "" "0000652061" "00006721" "30" "8300" "0" "8300" "0" "c.8300C>A" "r.(?)" "p.(Thr2767Asn)" "" "" "0000653068" "00006721" "70" "867" "0" "867" "0" "c.867C>A" "r.(?)" "p.(Cys289Ter)" "" "" "0000653209" "00006721" "70" "5378" "0" "5379" "0" "c.5378_5379dup" "r.(?)" "p.(Ala1794Argfs*25)" "" "" "0000653330" "00006721" "50" "1291" "0" "1291" "0" "c.1291dup" "r.(?)" "p.(Tyr431Leufs*13)" "" "" "0000655645" "00006721" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Leu142Phe)" "" "" "0000655646" "00006721" "50" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Cys174Phe)" "" "" "0000655647" "00006721" "30" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" "" "0000655648" "00006721" "90" "2036" "0" "2039" "0" "c.2036_2039del" "r.(?)" "p.(Ile679SerfsTer7)" "" "" "0000655649" "00006721" "50" "3616" "0" "3616" "0" "c.3616T>G" "r.(?)" "p.(Leu1206Val)" "" "" "0000655650" "00006721" "30" "4515" "0" "4515" "0" "c.4515G>A" "r.(?)" "p.(Ala1505=)" "" "" "0000655651" "00006721" "10" "4839" "0" "4839" "0" "c.4839C>T" "r.(?)" "p.(Thr1613=)" "" "" "0000655652" "00006721" "30" "4997" "0" "4997" "0" "c.4997G>A" "r.(?)" "p.(Arg1666Gln)" "" "" "0000655653" "00006721" "30" "5280" "0" "5280" "0" "c.5280C>A" "r.(?)" "p.(Asn1760Lys)" "" "" "0000655654" "00006721" "90" "6184" "0" "6184" "0" "c.6184del" "r.(?)" "p.(His2062IlefsTer6)" "" "" "0000655655" "00006721" "30" "6881" "0" "6881" "0" "c.6881C>G" "r.(?)" "p.(Ala2294Gly)" "" "" "0000655656" "00006721" "50" "7219" "0" "7219" "0" "c.7219G>A" "r.(?)" "p.(Asp2407Asn)" "" "" "0000655657" "00006721" "30" "8487" "0" "8498" "0" "c.8487_8498del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0000669934" "00006721" "30" "6390" "0" "6390" "0" "c.6390T>C" "r.(=)" "p.(=)" "" "" "0000670164" "00006721" "70" "5327" "0" "5330" "0" "c.5327_5330del" "r.(?)" "p.(Glu1776Glyfs*4)" "" "" "0000670165" "00006721" "70" "7745" "0" "7746" "0" "c.7745_7746del" "r.(?)" "p.(Phe2582*)" "" "" "0000670166" "00006721" "50" "8451" "0" "8451" "0" "c.8451C>A" "r.(?)" "p.(Tyr2817*)" "" "" "0000670167" "00006721" "50" "8494" "0" "8494" "0" "c.8494G>T" "r.(?)" "p.(Gly2832*)" "" "" "0000670168" "00006721" "70" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Gln775*)" "" "" "0000677855" "00006721" "50" "300" "0" "300" "0" "c.300A>T" "r.(?)" "p.(Gln100His)" "" "" "0000677856" "00006721" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Ter)" "" "" "0000677857" "00006721" "30" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Cys174Phe)" "" "" "0000677858" "00006721" "50" "598" "-2" "598" "-2" "c.598-2A>C" "r.spl?" "p.?" "" "" "0000677859" "00006721" "10" "1044" "42" "1044" "42" "c.1044+42del" "r.(=)" "p.(=)" "" "" "0000677860" "00006721" "30" "1344" "0" "1344" "0" "c.1344G>A" "r.(?)" "p.(Leu448=)" "" "" "0000677861" "00006721" "30" "1545" "0" "1545" "0" "c.1545G>A" "r.(?)" "p.(Pro515=)" "" "" "0000677862" "00006721" "30" "1903" "7" "1903" "7" "c.1903+7T>C" "r.(=)" "p.(=)" "" "" "0000677864" "00006721" "10" "2437" "-11" "2437" "-11" "c.2437-11del" "r.(=)" "p.(=)" "" "" "0000677865" "00006721" "50" "2933" "0" "2933" "0" "c.2933T>A" "r.(?)" "p.(Ile978Lys)" "" "" "0000677866" "00006721" "90" "3054" "0" "3055" "0" "c.3054_3055del" "r.(?)" "p.(Ser1018ArgfsTer35)" "" "" "0000677867" "00006721" "50" "3146" "0" "3146" "0" "c.3146C>G" "r.(?)" "p.(Ser1049Trp)" "" "" "0000677868" "00006721" "50" "3163" "0" "3163" "0" "c.3163A>G" "r.(?)" "p.(Asn1055Asp)" "" "" "0000677870" "00006721" "90" "3337" "0" "3337" "0" "c.3337C>T" "r.(?)" "p.(Arg1113Ter)" "" "" "0000677872" "00006721" "30" "3715" "0" "3715" "0" "c.3715C>T" "r.(?)" "p.(Leu1239Phe)" "" "" "0000677873" "00006721" "50" "3764" "0" "3764" "0" "c.3764G>A" "r.(?)" "p.(Arg1255Lys)" "" "" "0000677874" "00006721" "30" "4077" "0" "4077" "0" "c.4077C>T" "r.(?)" "p.(Ile1359=)" "" "" "0000677875" "00006721" "30" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Arg1497Trp)" "" "" "0000677877" "00006721" "10" "5593" "0" "5593" "0" "c.5593A>T" "r.(?)" "p.(Asn1865Tyr)" "" "" "0000677879" "00006721" "30" "6075" "0" "6075" "0" "c.6075T>A" "r.(?)" "p.(Pro2025=)" "" "" "0000677880" "00006721" "70" "6478" "0" "6478" "0" "c.6478C>T" "r.(?)" "p.(Arg2160Ter)" "" "" "0000677882" "00006721" "50" "6565" "0" "6565" "0" "c.6565C>T" "r.(?)" "p.(Arg2189Trp)" "" "" "0000677883" "00006721" "50" "7924" "0" "7924" "0" "c.7924G>A" "r.(?)" "p.(Val2642Ile)" "" "" "0000677884" "00006721" "50" "7938" "0" "7938" "0" "c.7938G>A" "r.(?)" "p.(Thr2646=)" "" "" "0000677886" "00006721" "10" "8605" "0" "8605" "0" "c.8605A>G" "r.(?)" "p.(Ile2869Val)" "" "" "0000689793" "00006721" "50" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Arg162His)" "" "" "0000689795" "00006721" "50" "1010" "0" "1010" "0" "c.1010T>C" "r.(?)" "p.(Val337Ala)" "" "" "0000689796" "00006721" "90" "2821" "0" "2821" "0" "c.2821C>T" "r.(?)" "p.(Arg941Ter)" "" "" "0000689797" "00006721" "50" "2866" "0" "2866" "0" "c.2866A>T" "r.(?)" "p.(Asn956Tyr)" "" "" "0000689798" "00006721" "30" "3303" "0" "3303" "0" "c.3303C>T" "r.(?)" "p.(Tyr1101=)" "" "" "0000689799" "00006721" "30" "3646" "0" "3646" "0" "c.3646A>G" "r.(?)" "p.(Ile1216Val)" "" "" "0000689800" "00006721" "10" "4500" "0" "4500" "0" "c.4500G>T" "r.(?)" "p.(Leu1500=)" "" "" "0000689801" "00006721" "50" "4679" "0" "4679" "0" "c.4679A>G" "r.(?)" "p.(Gln1560Arg)" "" "" "0000689803" "00006721" "10" "6195" "0" "6195" "0" "c.6195G>A" "r.(?)" "p.(Glu2065=)" "" "" "0000689804" "00006721" "50" "6368" "0" "6368" "0" "c.6368G>A" "r.(?)" "p.(Arg2123His)" "" "" "0000689805" "00006721" "70" "7097" "0" "7097" "0" "c.7097G>A" "r.(?)" "p.(Arg2366His)" "" "" "0000700615" "00006721" "50" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44Gln)" "" "" "0000700616" "00006721" "50" "353" "0" "353" "0" "c.353T>A" "r.(?)" "p.(Met118Lys)" "" "" "0000700617" "00006721" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150*)" "" "" "0000700618" "00006721" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160*)" "" "" "0000700619" "00006721" "50" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Cys174Phe)" "" "" "0000700620" "00006721" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Asn287Asp)" "" "" "0000700621" "00006721" "50" "860" "0" "860" "0" "c.860A>G" "r.(?)" "p.(Asn287Ser)" "" "" "0000700622" "00006721" "50" "868" "0" "868" "0" "c.868G>A" "r.(?)" "p.(Glu290Lys)" "" "" "0000700623" "00006721" "90" "939" "1" "939" "1" "c.939+1G>A" "r.spl" "p.?" "" "" "0000700624" "00006721" "90" "1124" "0" "1124" "0" "c.1124dup" "r.(?)" "p.(Asn375Lysfs*9)" "" "" "0000700625" "00006721" "50" "1381" "0" "1381" "0" "c.1381A>G" "r.(?)" "p.(Ile461Val)" "" "" "0000700626" "00006721" "70" "1764" "0" "1766" "0" "c.1764_1766dup" "r.(?)" "p.(Glu589dup)" "" "" "0000700627" "00006721" "90" "2900" "0" "2900" "0" "c.2900C>G" "r.(?)" "p.(Ser967*)" "" "" "0000700628" "00006721" "90" "3133" "0" "3133" "0" "c.3133C>T" "r.(?)" "p.(Arg1045*)" "" "" "0000700629" "00006721" "90" "3735" "0" "3741" "0" "c.3735_3741dup" "r.(?)" "p.(Asp1248Lysfs*7)" "" "" "0000700630" "00006721" "50" "3751" "0" "3751" "0" "c.3751G>A" "r.(?)" "p.(Asp1251Asn)" "" "" "0000700631" "00006721" "50" "4022" "0" "4022" "0" "c.4022G>A" "r.(?)" "p.(Arg1341His)" "" "" "0000700632" "00006721" "50" "4221" "0" "4221" "0" "c.4221A>C" "r.(?)" "p.(Glu1407Asp)" "" "" "0000700633" "00006721" "50" "4670" "0" "4670" "0" "c.4670C>T" "r.(?)" "p.(Thr1557Met)" "" "" "0000700634" "00006721" "90" "4711" "0" "4711" "0" "c.4711C>T" "r.(?)" "p.(Gln1571*)" "" "" "0000700635" "00006721" "50" "6788" "0" "6788" "0" "c.6788T>C" "r.(?)" "p.(Ile2263Thr)" "" "" "0000700636" "00006721" "50" "7847" "0" "7847" "0" "c.7847C>T" "r.(?)" "p.(Ser2616Leu)" "" "" "0000700637" "00006721" "50" "8188" "0" "8188" "0" "c.8188del" "r.(?)" "p.(Gln2730Serfs*16)" "" "" "0000700770" "00006721" "90" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Gln139*)" "" "" "0000700771" "00006721" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160*)" "" "" "0000700772" "00006721" "90" "818" "0" "818" "0" "c.818dup" "r.(?)" "p.(Asn274Glufs*15)" "" "" "0000700773" "00006721" "50" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Cys)" "" "" "0000700774" "00006721" "50" "944" "0" "944" "0" "c.944G>C" "r.(?)" "p.(Arg315Pro)" "" "" "0000700775" "00006721" "90" "1068" "0" "1068" "0" "c.1068dup" "r.(?)" "p.(Gln357Alafs*13)" "" "" "0000700776" "00006721" "50" "1103" "0" "1103" "0" "c.1103T>C" "r.(?)" "p.(Ile368Thr)" "" "" "0000700777" "00006721" "90" "1124" "0" "1124" "0" "c.1124dup" "r.(?)" "p.(Asn375Lysfs*9)" "" "" "0000700778" "00006721" "90" "1188" "0" "1195" "0" "c.1188_1195dup" "r.(?)" "p.(Ile399Argfs*44)" "" "" "0000700779" "00006721" "90" "1288" "0" "1288" "0" "c.1288G>T" "r.(?)" "p.(Glu430*)" "" "" "0000700780" "00006721" "50" "1325" "0" "1325" "0" "c.1325C>T" "r.(?)" "p.(Ser442Phe)" "" "" "0000700781" "00006721" "50" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Arg451His)" "" "" "0000700782" "00006721" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Cys482Tyr)" "" "" "0000700783" "00006721" "90" "1755" "0" "1755" "0" "c.1755dup" "r.(?)" "p.(His586Thrfs*9)" "" "" "0000700784" "00006721" "50" "1759" "0" "1759" "0" "c.1759T>A" "r.(?)" "p.(Tyr587Asn)" "" "" "0000700785" "00006721" "70" "2046" "0" "2046" "0" "c.2046C>A" "r.(?)" "p.(Cys682*)" "" "" "0000700786" "00006721" "90" "2130" "1" "2130" "1" "c.2130+1G>C" "r.spl" "p.?" "" "" "0000700787" "00006721" "70" "2161" "0" "2161" "0" "c.2161G>A" "r.(?)" "p.(Glu721Lys)" "" "" "0000700788" "00006721" "50" "2609" "0" "2609" "0" "c.2609T>C" "r.(?)" "p.(Ile870Thr)" "" "" "0000700789" "00006721" "50" "2799" "0" "2799" "0" "c.2799G>C" "r.(?)" "p.(Leu933Phe)" "" "" "0000700790" "00006721" "90" "3133" "0" "3133" "0" "c.3133C>T" "r.(?)" "p.(Arg1045*)" "" "" "0000700791" "00006721" "70" "3195" "0" "3195" "0" "c.3195C>G" "r.(?)" "p.(Tyr1065*)" "" "" "0000700792" "00006721" "90" "3329" "0" "3329" "0" "c.3329del" "r.(?)" "p.(Lys1110Argfs*5)" "" "" "0000700793" "00006721" "50" "3562" "0" "3562" "0" "c.3562T>C" "r.(?)" "p.(Tyr1188His)" "" "" "0000700794" "00006721" "90" "3735" "0" "3741" "0" "c.3735_3741dup" "r.(?)" "p.(Asp1248Lysfs*7)" "" "" "0000700795" "00006721" "50" "3764" "0" "3764" "0" "c.3764G>A" "r.(?)" "p.(Arg1255Lys)" "" "" "0000700796" "00006721" "50" "4117" "0" "4117" "0" "c.4117A>G" "r.(?)" "p.(Thr1373Ala)" "" "" "0000700797" "00006721" "90" "4477" "0" "4477" "0" "c.4477G>T" "r.(?)" "p.(Glu1493*)" "" "" "0000700798" "00006721" "90" "4501" "0" "4501" "0" "c.4501G>T" "r.(?)" "p.(Glu1501*)" "" "" "0000700799" "00006721" "50" "4868" "0" "4868" "0" "c.4868C>G" "r.(?)" "p.(Ser1623Cys)" "" "" "0000700800" "00006721" "50" "4996" "0" "4996" "0" "c.4996C>T" "r.(?)" "p.(Arg1666Trp)" "" "" "0000700801" "00006721" "90" "5659" "0" "5660" "0" "c.5659_5660del" "r.(?)" "p.(Lys1887Glufs*2)" "" "" "0000700802" "00006721" "90" "6118" "0" "6121" "0" "c.6118_6121del" "r.(?)" "p.(Ile2040Alafs*18)" "" "" "0000700803" "00006721" "50" "6181" "0" "6181" "0" "c.6181C>T" "r.(?)" "p.(Pro2061Ser)" "" "" "0000700804" "00006721" "90" "6496" "0" "6496" "0" "c.6496C>T" "r.(?)" "p.(Arg2166*)" "" "" "0000700805" "00006721" "50" "7012" "0" "7012" "0" "c.7012G>A" "r.(?)" "p.(Gly2338Arg)" "" "" "0000700806" "00006721" "50" "7784" "0" "7784" "0" "c.7784C>T" "r.(?)" "p.(Thr2595Ile)" "" "" "0000700807" "00006721" "50" "7940" "0" "7940" "0" "c.7940G>A" "r.(?)" "p.(Gly2647Asp)" "" "" "0000700808" "00006721" "70" "8077" "0" "8080" "0" "c.8077_8080del" "r.(?)" "p.(Lys2693Profs*3)" "" "" "0000700809" "00006721" "50" "8120" "0" "8120" "0" "c.8120T>C" "r.(?)" "p.(Met2707Thr)" "" "" "0000700810" "00006721" "50" "8309" "0" "8309" "0" "c.8309A>G" "r.(?)" "p.(Tyr2770Cys)" "" "" "0000700811" "00006721" "50" "8390" "0" "8390" "0" "c.8390T>C" "r.(?)" "p.(Ile2797Thr)" "" "" "0000701520" "00006721" "50" "607" "0" "607" "0" "c.607G>A" "r.(?)" "p.(Asp203Asn)" "" "" "0000701521" "00006721" "70" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Trp233*)" "" "" "0000701522" "00006721" "70" "939" "1" "939" "1" "c.939+1G>A" "r.spl" "p.?" "" "" "0000701523" "00006721" "50" "943" "0" "943" "0" "c.943C>T" "r.(?)" "p.(Arg315Cys)" "" "" "0000701524" "00006721" "70" "2848" "0" "2848" "0" "c.2848dup" "r.(?)" "p.(Ile950Asnfs*3)" "" "" "0000701525" "00006721" "50" "6885" "0" "6885" "0" "c.6885A>T" "r.(?)" "p.(Gln2295His)" "" "" "0000701526" "00006721" "50" "8481" "0" "8492" "0" "c.8481_8492del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0000701527" "00006721" "50" "8495" "0" "8495" "0" "c.8495G>T" "r.(?)" "p.(Gly2832Val)" "" "" "0000701770" "00006721" "50" "2683" "0" "2683" "0" "c.2683T>C" "r.(?)" "p.(Tyr895His)" "" "" "0000704334" "00006721" "70" "7641" "0" "7641" "0" "c.7641C>G" "r.(?)" "p.(Tyr2547*)" "" "" "0000721057" "00006721" "30" "531" "0" "531" "0" "c.531C>G" "r.(?)" "p.(Gly177=)" "" "" "0000721058" "00006721" "30" "987" "0" "987" "0" "c.987G>A" "r.(?)" "p.(Leu329=)" "" "" "0000721059" "00006721" "50" "1067" "0" "1067" "0" "c.1067C>T" "r.(?)" "p.(Thr356Met)" "" "" "0000721060" "00006721" "30" "1140" "6" "1140" "6" "c.1140+6T>C" "r.(=)" "p.(=)" "" "" "0000721061" "00006721" "50" "1671" "0" "1671" "0" "c.1671A>G" "r.(?)" "p.(Ile557Met)" "" "" "0000721062" "00006721" "90" "2520" "0" "2521" "0" "c.2520_2521del" "r.(?)" "p.(Gln841Aspfs*9)" "" "" "0000721063" "00006721" "30" "3147" "0" "3147" "0" "c.3147G>A" "r.(?)" "p.(Ser1049=)" "" "" "0000721064" "00006721" "30" "3276" "0" "3276" "0" "c.3276G>C" "r.(?)" "p.(Ser1092=)" "" "" "0000721067" "00006721" "90" "3337" "0" "3337" "0" "c.3337C>T" "r.(?)" "p.(Arg1113Ter)" "" "" "0000721068" "00006721" "10" "3923" "0" "3923" "0" "c.3923G>A" "r.(?)" "p.(Arg1308Gln)" "" "" "0000721072" "00006721" "90" "4395" "0" "4395" "0" "c.4395T>A" "r.(?)" "p.(Tyr1465*)" "" "" "0000721073" "00006721" "50" "4515" "0" "4515" "0" "c.4515G>A" "r.(?)" "p.(Ala1505=)" "" "" "0000721074" "00006721" "50" "4961" "0" "4961" "0" "c.4961T>C" "r.(?)" "p.(Leu1654Pro)" "" "" "0000721075" "00006721" "50" "5062" "0" "5062" "0" "c.5062G>A" "r.(?)" "p.(Ala1688Thr)" "" "" "0000721078" "00006721" "30" "5859" "0" "5859" "0" "c.5859C>G" "r.(?)" "p.(Thr1953=)" "" "" "0000721081" "00006721" "50" "6307" "0" "6307" "0" "c.6307A>G" "r.(?)" "p.(Lys2103Glu)" "" "" "0000721082" "00006721" "10" "6381" "0" "6381" "0" "c.6381C>T" "r.(?)" "p.(Ala2127=)" "" "" "0000721083" "00006721" "30" "6381" "0" "6381" "0" "c.6381C>T" "r.(?)" "p.(Ala2127=)" "" "" "0000721084" "00006721" "50" "6397" "0" "6397" "0" "c.6397G>A" "r.(?)" "p.(Gly2133Ser)" "" "" "0000721088" "00006721" "30" "7168" "0" "7168" "0" "c.7168A>G" "r.(?)" "p.(Ile2390Val)" "" "" "0000721089" "00006721" "50" "7831" "0" "7831" "0" "c.7831G>T" "r.(?)" "p.(Asp2611Tyr)" "" "" "0000721090" "00006721" "30" "8390" "0" "8390" "0" "c.8390T>C" "r.(?)" "p.(Ile2797Thr)" "" "" "0000721091" "00006721" "50" "8401" "0" "8401" "0" "c.8401C>G" "r.(?)" "p.(Arg2801Gly)" "" "" "0000721092" "00006721" "50" "8449" "0" "8449" "0" "c.8449T>G" "r.(?)" "p.(Tyr2817Asp)" "" "" "0000790019" "00006721" "90" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Gln250Ter)" "" "" "0000790033" "00006721" "90" "2848" "0" "2848" "0" "c.2848dup" "r.(?)" "p.(Ile950AsnfsTer3)" "" "" "0000790049" "00006721" "70" "5428" "0" "5428" "0" "c.5428del" "r.(?)" "p.(Gln1810ArgfsTer8)" "" "" "0000790074" "00006721" "50" "6002" "0" "6002" "0" "c.6002T>G" "r.(?)" "p.(Val2001Gly)" "" "" "0000802700" "00006721" "50" "82" "0" "82" "0" "c.82T>G" "r.(?)" "p.(Tyr28Asp)" "" "" "0000802701" "00006721" "50" "373" "0" "373" "0" "c.373A>C" "r.(?)" "p.(Ile125Leu)" "" "" "0000802702" "00006721" "50" "877" "0" "879" "0" "c.877_879del" "r.(?)" "p.(Glu293del)" "" "" "0000802703" "00006721" "30" "885" "0" "885" "0" "c.885G>A" "r.(?)" "p.(Leu295=)" "" "" "0000802704" "00006721" "50" "1517" "0" "1517" "0" "c.1517C>T" "r.(?)" "p.(Pro506Leu)" "" "" "0000802705" "00006721" "10" "1574" "14" "1574" "14" "c.1574+14G>T" "r.(=)" "p.(=)" "" "" "0000802706" "00006721" "10" "1575" "-15" "1575" "-15" "c.1575-15C>G" "r.(=)" "p.(=)" "" "" "0000802707" "00006721" "30" "2422" "0" "2422" "0" "c.2422C>T" "r.(?)" "p.(Arg808Cys)" "" "" "0000802708" "00006721" "50" "3438" "0" "3438" "0" "c.3438G>C" "r.(?)" "p.(Arg1146Ser)" "" "" "0000802709" "00006721" "10" "3650" "0" "3650" "0" "c.3650C>T" "r.(?)" "p.(Thr1217Met)" "" "" "0000802710" "00006721" "50" "4261" "0" "4261" "0" "c.4261G>A" "r.(?)" "p.(Glu1421Lys)" "" "" "0000802711" "00006721" "10" "4602" "0" "4602" "0" "c.4602A>G" "r.(?)" "p.(Glu1534=)" "" "" "0000802712" "00006721" "50" "4790" "0" "4798" "0" "c.4790_4798del" "r.(?)" "p.(Glu1597_Glu1599del)" "" "" "0000802713" "00006721" "30" "4901" "0" "4901" "0" "c.4901G>A" "r.(?)" "p.(Arg1634Gln)" "" "" "0000802714" "00006721" "30" "5316" "0" "5316" "0" "c.5316T>C" "r.(?)" "p.(Asp1772=)" "" "" "0000802715" "00006721" "50" "5363" "0" "5363" "0" "c.5363A>G" "r.(?)" "p.(Gln1788Arg)" "" "" "0000802717" "00006721" "30" "5523" "0" "5523" "0" "c.5523A>C" "r.(?)" "p.(Ser1841=)" "" "" "0000802718" "00006721" "50" "5744" "0" "5744" "0" "c.5744G>A" "r.(?)" "p.(Arg1915His)" "" "" "0000802719" "00006721" "30" "5798" "0" "5798" "0" "c.5798C>T" "r.(?)" "p.(Ser1933Phe)" "" "" "0000802720" "00006721" "50" "5984" "0" "5984" "0" "c.5984T>C" "r.(?)" "p.(Leu1995Ser)" "" "" "0000802722" "00006721" "50" "6269" "0" "6269" "0" "c.6269A>G" "r.(?)" "p.(Glu2090Gly)" "" "" "0000802723" "00006721" "10" "6360" "0" "6360" "0" "c.6360C>T" "r.(?)" "p.(Thr2120=)" "" "" "0000802724" "00006721" "30" "6449" "0" "6449" "0" "c.6449C>G" "r.(?)" "p.(Ala2150Gly)" "" "" "0000802725" "00006721" "30" "6655" "0" "6655" "0" "c.6655G>A" "r.(?)" "p.(Val2219Ile)" "" "" "0000802726" "00006721" "50" "7234" "0" "7234" "0" "c.7234A>G" "r.(?)" "p.(Thr2412Ala)" "" "" "0000802727" "00006721" "10" "7587" "0" "7587" "0" "c.7587T>C" "r.(?)" "p.(Asp2529=)" "" "" "0000802728" "00006721" "50" "7855" "0" "7855" "0" "c.7855A>G" "r.(?)" "p.(Ile2619Val)" "" "" "0000802729" "00006721" "50" "8583" "0" "8583" "0" "c.8583del" "r.(?)" "p.(Tyr2862Thrfs*21)" "" "" "0000802730" "00006721" "10" "8618" "0" "8620" "0" "c.*2_*4dup" "r.(=)" "p.(=)" "" "" "0000851284" "00006721" "50" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Ala247Val)" "" "" "0000851285" "00006721" "50" "1048" "0" "1048" "0" "c.1048T>C" "r.(?)" "p.(Tyr350His)" "" "" "0000851286" "00006721" "50" "1483" "0" "1483" "0" "c.1483G>A" "r.(?)" "p.(Val495Met)" "" "" "0000851287" "00006721" "50" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Pro513Ser)" "" "" "0000851288" "00006721" "30" "1696" "0" "1696" "0" "c.1696G>A" "r.(?)" "p.(Ala566Thr)" "" "" "0000851289" "00006721" "50" "1949" "0" "1949" "0" "c.1949A>G" "r.(?)" "p.(Asn650Ser)" "" "" "0000851290" "00006721" "90" "2297" "2" "2297" "2" "c.2297+2T>A" "r.spl?" "p.?" "" "" "0000851291" "00006721" "30" "2297" "7" "2297" "7" "c.2297+7del" "r.(=)" "p.(=)" "" "" "0000851292" "00006721" "50" "2517" "0" "2517" "0" "c.2517C>G" "r.(?)" "p.(His839Gln)" "" "" "0000851293" "00006721" "30" "2666" "0" "2666" "0" "c.2666G>A" "r.(?)" "p.(Arg889Lys)" "" "" "0000851294" "00006721" "30" "2932" "0" "2932" "0" "c.2932A>G" "r.(?)" "p.(Ile978Val)" "" "" "0000851295" "00006721" "30" "3004" "0" "3004" "0" "c.3004C>T" "r.(?)" "p.(Arg1002Trp)" "" "" "0000851296" "00006721" "30" "3294" "0" "3294" "0" "c.3294C>G" "r.(?)" "p.(Asp1098Glu)" "" "" "0000851297" "00006721" "30" "3922" "0" "3922" "0" "c.3922C>T" "r.(?)" "p.(Arg1308Trp)" "" "" "0000851298" "00006721" "30" "4515" "0" "4515" "0" "c.4515G>A" "r.(?)" "p.(Ala1505=)" "" "" "0000851299" "00006721" "30" "4526" "0" "4526" "0" "c.4526G>A" "r.(?)" "p.(Arg1509Lys)" "" "" "0000851300" "00006721" "30" "4565" "0" "4565" "0" "c.4565C>T" "r.(?)" "p.(Thr1522Met)" "" "" "0000851301" "00006721" "30" "4992" "0" "4992" "0" "c.4992G>C" "r.(?)" "p.(Leu1664=)" "" "" "0000851302" "00006721" "50" "5006" "0" "5006" "0" "c.5006T>C" "r.(?)" "p.(Leu1669Pro)" "" "" "0000851303" "00006721" "10" "5091" "0" "5091" "0" "c.5091T>C" "r.(?)" "p.(Asn1697=)" "" "" "0000851304" "00006721" "30" "5173" "0" "5173" "0" "c.5173C>T" "r.(?)" "p.(Arg1725Trp)" "" "" "0000851305" "00006721" "30" "5795" "0" "5795" "0" "c.5795G>A" "r.(?)" "p.(Arg1932His)" "" "" "0000851307" "00006721" "50" "6442" "0" "6442" "0" "c.6442G>A" "r.(?)" "p.(Ala2148Thr)" "" "" "0000851309" "00006721" "50" "6733" "0" "6733" "0" "c.6733G>A" "r.(?)" "p.(Glu2245Lys)" "" "" "0000851310" "00006721" "30" "6799" "0" "6799" "0" "c.6799A>T" "r.(?)" "p.(Thr2267Ser)" "" "" "0000851311" "00006721" "50" "6805" "0" "6805" "0" "c.6805A>G" "r.(?)" "p.(Lys2269Glu)" "" "" "0000851312" "00006721" "50" "7745" "0" "7745" "0" "c.7745T>G" "r.(?)" "p.(Phe2582Cys)" "" "" "0000851315" "00006721" "30" "8191" "0" "8191" "0" "c.8191T>C" "r.(?)" "p.(Tyr2731His)" "" "" "0000851316" "00006721" "50" "8433" "0" "8433" "0" "c.8433G>A" "r.(?)" "p.(Lys2811=)" "" "" "0000851317" "00006721" "50" "8472" "0" "8483" "0" "c.8472_8483del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0000851318" "00006721" "30" "8493" "0" "8493" "0" "c.8493G>C" "r.(?)" "p.(Ser2831=)" "" "" "0000851319" "00006721" "30" "8505" "0" "8505" "0" "c.8505C>T" "r.(?)" "p.(Ser2835=)" "" "" "0000860494" "00006721" "50" "82" "0" "82" "0" "c.82T>G" "r.(?)" "p.(Tyr28Asp)" "" "" "0000860495" "00006721" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232His)" "" "" "0000860496" "00006721" "10" "727" "-10" "727" "-10" "c.727-10T>G" "r.(=)" "p.(=)" "" "" "0000860497" "00006721" "50" "1163" "0" "1163" "0" "c.1163C>T" "r.(?)" "p.(Thr388Ile)" "" "" "0000860498" "00006721" "70" "1701" "1" "1701" "1" "c.1701+1G>A" "r.spl?" "p.?" "" "" "0000860499" "00006721" "50" "2793" "3" "2793" "3" "c.2793+3A>G" "r.spl?" "p.?" "" "" "0000860500" "00006721" "50" "2993" "0" "2993" "0" "c.2993A>G" "r.(?)" "p.(Asp998Gly)" "" "" "0000860501" "00006721" "50" "3794" "0" "3794" "0" "c.3794A>G" "r.(?)" "p.(Glu1265Gly)" "" "" "0000860502" "00006721" "30" "3981" "0" "3981" "0" "c.3981C>T" "r.(?)" "p.(Ile1327=)" "" "" "0000860503" "00006721" "10" "4749" "0" "4749" "0" "c.4749C>T" "r.(?)" "p.(Thr1583=)" "" "" "0000860506" "00006721" "50" "5959" "0" "5959" "0" "c.5959G>A" "r.(?)" "p.(Asp1987Asn)" "" "" "0000860507" "00006721" "50" "6367" "0" "6367" "0" "c.6367C>T" "r.(?)" "p.(Arg2123Cys)" "" "" "0000860508" "00006721" "50" "8300" "0" "8300" "0" "c.8300C>G" "r.(?)" "p.(Thr2767Ser)" "" "" "0000860509" "00006721" "50" "8500" "0" "8500" "0" "c.8500C>T" "r.(?)" "p.(Arg2834Cys)" "" "" "0000860510" "00006721" "50" "8500" "0" "8500" "0" "c.8500C>T" "r.(?)" "p.(Arg2834Cys)" "" "" "0000860511" "00006721" "30" "8508" "0" "8519" "0" "c.8508_8519del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0000877916" "00006721" "70" "1768" "0" "1768" "0" "c.1768T>G" "r.(?)" "p.(Phe590Val)" "" "" "0000878858" "00006721" "70" "3263" "0" "3263" "0" "c.3263T>C" "r.(?)" "p.(Leu1088Pro)" "23" "" "0000878889" "00006721" "90" "7248" "0" "7248" "0" "c.7248dup" "r.(?)" "p.(Asp2417*)" "24" "" "0000878901" "00006721" "70" "3550" "0" "3550" "0" "c.3550C>T" "r.(?)" "p.(Arg1184Trp)" "23" "" "0000879762" "00006721" "50" "3904" "0" "3904" "0" "c.3904C>T" "r.(?)" "p.(Arg1302Cys)" "" "" "0000887401" "00006721" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Thr37=)" "" "" "0000887402" "00006721" "90" "174" "0" "174" "0" "c.174A>G" "r.(?)" "p.(Gln58=)" "" "" "0000887403" "00006721" "50" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Met83Ile)" "" "" "0000887404" "00006721" "30" "423" "-9" "423" "-9" "c.423-9dup" "r.(=)" "p.(=)" "" "" "0000887405" "00006721" "30" "521" "0" "521" "0" "c.521G>T" "r.(?)" "p.(Cys174Phe)" "" "" "0000887406" "00006721" "10" "777" "19" "777" "19" "c.777+19C>T" "r.(=)" "p.(=)" "" "" "0000887407" "00006721" "50" "935" "0" "937" "0" "c.935_937del" "r.(?)" "p.(Phe312del)" "" "" "0000887408" "00006721" "50" "976" "0" "976" "0" "c.976C>T" "r.(?)" "p.(Leu326Phe)" "" "" "0000887409" "00006721" "30" "1044" "6" "1044" "6" "c.1044+6dup" "r.(=)" "p.(=)" "" "" "0000887410" "00006721" "10" "1059" "0" "1059" "0" "c.1059T>A" "r.(?)" "p.(Thr353=)" "" "" "0000887411" "00006721" "50" "1100" "0" "1100" "0" "c.1100G>T" "r.(?)" "p.(Cys367Phe)" "" "" "0000887412" "00006721" "50" "1158" "0" "1158" "0" "c.1158G>T" "r.(?)" "p.(Gln386His)" "" "" "0000887413" "00006721" "50" "1262" "0" "1262" "0" "c.1262T>C" "r.(?)" "p.(Leu421Pro)" "" "" "0000887414" "00006721" "90" "2297" "0" "2297" "0" "c.2297G>C" "r.(?)" "p.(Ser766Thr)" "" "" "0000887415" "00006721" "30" "2297" "5" "2297" "5" "c.2297+5A>G" "r.spl?" "p.?" "" "" "0000887416" "00006721" "10" "2436" "16" "2436" "16" "c.2436+16A>G" "r.(=)" "p.(=)" "" "" "0000887417" "00006721" "50" "2566" "0" "2566" "0" "c.2566T>C" "r.(?)" "p.(Phe856Leu)" "" "" "0000887418" "00006721" "30" "2630" "18" "2630" "18" "c.2630+18C>T" "r.(=)" "p.(=)" "" "" "0000887419" "00006721" "30" "2771" "0" "2771" "0" "c.2771T>C" "r.(?)" "p.(Met924Thr)" "" "" "0000887420" "00006721" "30" "2774" "0" "2774" "0" "c.2774G>A" "r.(?)" "p.(Arg925Gln)" "" "" "0000887421" "00006721" "10" "2877" "18" "2877" "18" "c.2877+18A>C" "r.(=)" "p.(=)" "" "" "0000887422" "00006721" "50" "2933" "0" "2933" "0" "c.2933T>A" "r.(?)" "p.(Ile978Lys)" "" "" "0000887423" "00006721" "50" "2958" "0" "2958" "0" "c.2958G>T" "r.(?)" "p.(Gln986His)" "" "" "0000887424" "00006721" "50" "3106" "0" "3106" "0" "c.3106G>A" "r.(?)" "p.(Val1036Ile)" "" "" "0000887425" "00006721" "50" "3162" "0" "3164" "0" "c.3162_3164del" "r.(?)" "p.(Lys1054del)" "" "" "0000887426" "00006721" "10" "3396" "0" "3396" "0" "c.3396T>C" "r.(?)" "p.(Phe1132=)" "" "" "0000887427" "00006721" "30" "3504" "0" "3504" "0" "c.3504G>A" "r.(?)" "p.(Glu1168=)" "" "" "0000887428" "00006721" "10" "3510" "0" "3510" "0" "c.3510G>A" "r.(?)" "p.(Glu1170=)" "" "" "0000887429" "00006721" "30" "3677" "0" "3677" "0" "c.3677T>C" "r.(?)" "p.(Met1226Thr)" "" "" "0000887430" "00006721" "50" "3862" "0" "3862" "0" "c.3862A>C" "r.(?)" "p.(Lys1288Gln)" "" "" "0000887431" "00006721" "30" "3900" "0" "3900" "0" "c.3900G>A" "r.(?)" "p.(Gln1300=)" "" "" "0000887432" "00006721" "30" "3925" "0" "3925" "0" "c.3925C>T" "r.(?)" "p.(His1309Tyr)" "" "" "0000887433" "00006721" "50" "3964" "0" "3964" "0" "c.3964G>A" "r.(?)" "p.(Asp1322Asn)" "" "" "0000887434" "00006721" "50" "3971" "0" "3971" "0" "c.3971A>T" "r.(?)" "p.(Asn1324Ile)" "" "" "0000887435" "00006721" "30" "4236" "0" "4236" "0" "c.4236G>A" "r.(?)" "p.(Leu1412=)" "" "" "0000887436" "00006721" "90" "4366" "0" "4366" "0" "c.4366C>T" "r.(?)" "p.(Gln1456*)" "" "" "0000887437" "00006721" "50" "4775" "0" "4775" "0" "c.4775A>G" "r.(?)" "p.(Lys1592Arg)" "" "" "0000887438" "00006721" "30" "4992" "0" "4992" "0" "c.4992G>A" "r.(?)" "p.(Leu1664=)" "" "" "0000887439" "00006721" "50" "5035" "0" "5035" "0" "c.5035C>T" "r.(?)" "p.(His1679Tyr)" "" "" "0000887440" "00006721" "10" "5304" "0" "5304" "0" "c.5304G>C" "r.(?)" "p.(Gly1768=)" "" "" "0000887441" "00006721" "50" "5324" "0" "5324" "0" "c.5324G>T" "r.(?)" "p.(Arg1775Ile)" "" "" "0000887444" "00006721" "50" "5469" "0" "5469" "0" "c.5469G>C" "r.(?)" "p.(Glu1823Asp)" "" "" "0000887445" "00006721" "50" "5513" "0" "5513" "0" "c.5513G>A" "r.(?)" "p.(Arg1838His)" "" "" "0000887446" "00006721" "50" "5597" "0" "5597" "0" "c.5597A>G" "r.(?)" "p.(Gln1866Arg)" "" "" "0000887447" "00006721" "50" "5798" "0" "5798" "0" "c.5798C>T" "r.(?)" "p.(Ser1933Phe)" "" "" "0000887448" "00006721" "30" "5859" "0" "5859" "0" "c.5859C>G" "r.(?)" "p.(Thr1953=)" "" "" "0000887450" "00006721" "30" "5958" "0" "5958" "0" "c.5958C>T" "r.(?)" "p.(Ile1986=)" "" "" "0000887451" "00006721" "30" "6073" "0" "6073" "0" "c.6073C>T" "r.(?)" "p.(Pro2025Ser)" "" "" "0000887452" "00006721" "50" "6307" "0" "6307" "0" "c.6307A>G" "r.(?)" "p.(Lys2103Glu)" "" "" "0000887453" "00006721" "50" "6397" "0" "6397" "0" "c.6397G>A" "r.(?)" "p.(Gly2133Ser)" "" "" "0000887454" "00006721" "50" "6812" "0" "6812" "0" "c.6812A>C" "r.(?)" "p.(Lys2271Thr)" "" "" "0000887455" "00006721" "50" "7234" "0" "7234" "0" "c.7234A>G" "r.(?)" "p.(Thr2412Ala)" "" "" "0000887456" "00006721" "50" "7649" "0" "7649" "0" "c.7649G>A" "r.(?)" "p.(Gly2550Asp)" "" "" "0000887457" "00006721" "30" "8019" "0" "8019" "0" "c.8019C>T" "r.(?)" "p.(Asp2673=)" "" "" "0000887458" "00006721" "30" "8130" "0" "8130" "0" "c.8130A>G" "r.(?)" "p.(Ala2710=)" "" "" "0000887459" "00006721" "50" "8467" "0" "8467" "0" "c.8467C>G" "r.(?)" "p.(Pro2823Ala)" "" "" "0000887460" "00006721" "50" "8472" "0" "8483" "0" "c.8472_8483del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0000887461" "00006721" "50" "8531" "0" "8531" "0" "c.8531G>T" "r.(?)" "p.(Gly2844Val)" "" "" "0000887462" "00006721" "50" "8531" "0" "8531" "0" "c.8531G>T" "r.(?)" "p.(Gly2844Val)" "" "" "0000887463" "00006721" "30" "8580" "0" "8580" "0" "c.8580T>C" "r.(?)" "p.(Tyr2860=)" "" "" "0000903165" "00006721" "50" "8586" "0" "8586" "0" "c.8586del" "r.(?)" "p.(Ser2863Hisfs*20)" "45" "" "0000912564" "00006721" "50" "174" "0" "174" "0" "c.174A>G" "r.(?)" "p.(Gln58=)" "" "" "0000912565" "00006721" "10" "422" "7" "422" "7" "c.422+7T>C" "r.(=)" "p.(=)" "" "" "0000912566" "00006721" "50" "695" "0" "695" "0" "c.695G>A" "r.(?)" "p.(Arg232His)" "" "" "0000912567" "00006721" "10" "1045" "-18" "1045" "-18" "c.1045-18G>A" "r.(=)" "p.(=)" "" "" "0000912568" "00006721" "30" "1062" "0" "1062" "0" "c.1062G>A" "r.(?)" "p.(Leu354=)" "" "" "0000912569" "00006721" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Glu754Lys)" "" "" "0000912570" "00006721" "50" "3199" "0" "3199" "0" "c.3199G>T" "r.(?)" "p.(Ala1067Ser)" "" "" "0000912571" "00006721" "30" "4141" "0" "4141" "0" "c.4141A>T" "r.(?)" "p.(Thr1381Ser)" "" "" "0000912572" "00006721" "10" "4377" "0" "4377" "0" "c.4377A>G" "r.(?)" "p.(Thr1459=)" "" "" "0000912573" "00006721" "30" "5363" "0" "5363" "0" "c.5363A>G" "r.(?)" "p.(Gln1788Arg)" "" "" "0000912574" "00006721" "90" "6336" "0" "6336" "0" "c.6336del" "r.(?)" "p.(Asn2114IlefsTer2)" "" "" "0000912575" "00006721" "50" "6347" "0" "6347" "0" "c.6347T>C" "r.(?)" "p.(Ile2116Thr)" "" "" "0000912576" "00006721" "30" "7995" "0" "7995" "0" "c.7995G>A" "r.(?)" "p.(Thr2665=)" "" "" "0000912577" "00006721" "50" "8137" "0" "8137" "0" "c.8137G>A" "r.(?)" "p.(Val2713Met)" "" "" "0000912578" "00006721" "30" "8615" "0" "8615" "0" "c.8615A>G" "r.(?)" "p.(*2872Trpext*1)" "" "" "0000920325" "00006721" "90" "7912" "0" "7912" "0" "c.7912G>T" "r.(?)" "p.(Glu2638Ter)" "24" "" "0000924557" "00006721" "30" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000924558" "00006721" "50" "1088" "0" "1088" "0" "c.1088A>C" "r.(?)" "p.(Gln363Pro)" "" "" "0000924559" "00006721" "30" "1920" "0" "1920" "0" "c.1920C>T" "r.(?)" "p.(Ile640=)" "" "" "0000924560" "00006721" "30" "2130" "5" "2130" "5" "c.2130+5G>T" "r.spl?" "p.?" "" "" "0000924562" "00006721" "50" "2771" "0" "2771" "0" "c.2771T>C" "r.(?)" "p.(Met924Thr)" "" "" "0000924565" "00006721" "90" "4687" "0" "4688" "0" "c.4687_4688del" "r.(?)" "p.(Leu1563Glufs*63)" "" "" "0000924566" "00006721" "50" "4961" "0" "4961" "0" "c.4961T>C" "r.(?)" "p.(Leu1654Pro)" "" "" "0000924568" "00006721" "10" "5380" "-4" "5380" "-4" "c.5380-4C>A" "r.spl?" "p.?" "" "" "0000924571" "00006721" "50" "6010" "0" "6010" "0" "c.6010G>T" "r.(?)" "p.(Val2004Phe)" "" "" "0000924573" "00006721" "30" "7734" "0" "7734" "0" "c.7734C>T" "r.(?)" "p.(Ser2578=)" "" "" "0000929225" "00006721" "30" "78" "0" "78" "0" "c.78G>T" "r.(?)" "p.(=)" "" "" "0000929226" "00006721" "10" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Arg44=)" "" "" "0000929227" "00006721" "10" "1044" "12" "1044" "12" "c.1044+12G>A" "r.(=)" "p.(=)" "" "" "0000929228" "00006721" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Cys482Tyr)" "" "" "0000929229" "00006721" "10" "1482" "0" "1482" "0" "c.1482C>T" "r.(?)" "p.(Tyr494=)" "" "" "0000929230" "00006721" "50" "1735" "0" "1735" "0" "c.1735A>G" "r.(?)" "p.(Thr579Ala)" "" "" "0000929231" "00006721" "70" "2562" "0" "2562" "0" "c.2562C>T" "r.(?)" "p.(=)" "" "" "0000929232" "00006721" "30" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Arg925Trp)" "" "" "0000929233" "00006721" "50" "2958" "0" "2958" "0" "c.2958G>T" "r.(?)" "p.(Gln986His)" "" "" "0000929234" "00006721" "50" "3146" "0" "3146" "0" "c.3146C>T" "r.(?)" "p.(Ser1049Leu)" "" "" "0000929235" "00006721" "90" "4531" "0" "4531" "0" "c.4531C>T" "r.(?)" "p.(Gln1511*)" "" "" "0000929236" "00006721" "50" "5249" "0" "5249" "0" "c.5249T>G" "r.(?)" "p.(Leu1750Trp)" "" "" "0000929239" "00006721" "30" "6552" "0" "6552" "0" "c.6552G>T" "r.(?)" "p.(=)" "" "" "0000929240" "00006721" "50" "6659" "0" "6659" "0" "c.6659C>A" "r.(?)" "p.(Thr2220Asn)" "" "" "0000929241" "00006721" "70" "6703" "0" "6703" "0" "c.6703G>T" "r.(?)" "p.(Glu2235*)" "" "" "0000929242" "00006721" "50" "8117" "0" "8117" "0" "c.8117A>T" "r.(?)" "p.(Lys2706Met)" "" "" "0000948748" "00006721" "50" "82" "0" "82" "0" "c.82T>C" "r.(?)" "p.(Tyr28His)" "" "" "0000948749" "00006721" "50" "344" "0" "344" "0" "c.344A>G" "r.(?)" "p.(Asn115Ser)" "" "" "0000948750" "00006721" "50" "423" "0" "423" "0" "c.423G>T" "r.(?)" "p.(Arg141Ser)" "" "" "0000948751" "00006721" "10" "531" "0" "531" "0" "c.531C>G" "r.(?)" "p.(Gly177=)" "" "" "0000948752" "00006721" "50" "977" "0" "977" "0" "c.977T>C" "r.(?)" "p.(Leu326Pro)" "" "" "0000948753" "00006721" "90" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Arg425*)" "" "" "0000948754" "00006721" "10" "1560" "0" "1560" "0" "c.1560G>A" "r.(?)" "p.(=)" "" "" "0000948755" "00006721" "50" "1565" "0" "1565" "0" "c.1565T>A" "r.(?)" "p.(Leu522His)" "" "" "0000948756" "00006721" "50" "2672" "0" "2672" "0" "c.2672A>G" "r.(?)" "p.(Tyr891Cys)" "" "" "0000948757" "00006721" "30" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Arg925Trp)" "" "" "0000948758" "00006721" "50" "2958" "0" "2958" "0" "c.2958G>T" "r.(?)" "p.(Gln986His)" "" "" "0000948760" "00006721" "50" "3763" "0" "3763" "0" "c.3763A>G" "r.(?)" "p.(Arg1255Gly)" "" "" "0000948761" "00006721" "10" "3900" "0" "3900" "0" "c.3900G>A" "r.(?)" "p.(Gln1300=)" "" "" "0000948762" "00006721" "50" "3905" "0" "3905" "0" "c.3905G>A" "r.(?)" "p.(Arg1302His)" "" "" "0000948763" "00006721" "10" "5555" "0" "5555" "0" "c.5555G>A" "r.(?)" "p.(Arg1852His)" "" "" "0000948764" "00006721" "70" "5800" "0" "5800" "0" "c.5800C>T" "r.(?)" "p.(Arg1934Ter)" "" "" "0000948765" "00006721" "50" "6335" "0" "6335" "0" "c.6335A>G" "r.(?)" "p.(Lys2112Arg)" "" "" "0000948766" "00006721" "30" "6360" "0" "6360" "0" "c.6360C>T" "r.(?)" "p.(Thr2120=)" "" "" "0000948768" "00006721" "10" "7839" "0" "7839" "0" "c.7839G>A" "r.(?)" "p.(=)" "" "" "0000948769" "00006721" "50" "7856" "0" "7856" "0" "c.7856T>C" "r.(?)" "p.(Ile2619Thr)" "" "" "0000948770" "00006721" "50" "8183" "0" "8183" "0" "c.8183A>T" "r.(?)" "p.(Glu2728Val)" "" "" "0000948771" "00006721" "50" "8392" "0" "8392" "0" "c.8392A>T" "r.(?)" "p.(Thr2798Ser)" "" "" "0000948772" "00006721" "10" "8455" "0" "8455" "0" "c.8455A>C" "r.(?)" "p.(Met2819Leu)" "" "" "0000948773" "00006721" "10" "8481" "0" "8481" "0" "c.8481C>T" "r.(?)" "p.(Ser2827=)" "" "" "0000952002" "00006721" "50" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(His586Tyr)" "" "" "0000952156" "00006721" "50" "2276" "0" "2276" "0" "c.2276T>C" "r.(?)" "p.(Val759Ala)" "" "" "0000957760" "00006721" "70" "6566" "0" "6566" "0" "c.6566G>A" "r.(?)" "p.(Arg2189Gln)" "" "" "0000957772" "00006721" "50" "8330" "0" "8330" "0" "c.8330C>A" "r.(?)" "p.(Pro2777His)" "" "" "0000957773" "00006721" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "" "0000957775" "00006721" "70" "6056" "0" "6056" "0" "c.6056C>T" "r.(?)" "p.(Ala2019Val)" "" "" "0000957796" "00006721" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000957800" "00006721" "70" "4174" "0" "4174" "0" "c.4174C>T" "r.(?)" "p.(Arg1392Trp)" "" "" "0000957821" "00006721" "70" "7991" "0" "7991" "0" "c.7991C>A" "r.(?)" "p.(Thr2664Asn)" "" "" "0000957860" "00006721" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "" "0000964230" "00006721" "30" "102" "0" "102" "0" "c.102C>T" "r.(?)" "p.(=)" "" "" "0000964231" "00006721" "50" "117" "0" "117" "0" "c.117G>T" "r.(?)" "p.(Arg39Ser)" "" "" "0000964232" "00006721" "50" "208" "0" "208" "0" "c.208A>G" "r.(?)" "p.(Thr70Ala)" "" "" "0000964234" "00006721" "50" "1544" "0" "1544" "0" "c.1544C>T" "r.(?)" "p.(Pro515Leu)" "" "" "0000964235" "00006721" "90" "2130" "1" "2130" "1" "c.2130+1G>A" "r.spl?" "p.?" "" "" "0000964236" "00006721" "10" "3507" "0" "3507" "0" "c.3507C>T" "r.(?)" "p.(Tyr1169=)" "" "" "0000964237" "00006721" "10" "3540" "0" "3540" "0" "c.3540A>G" "r.(?)" "p.(=)" "" "" "0000964238" "00006721" "50" "3644" "0" "3644" "0" "c.3644A>G" "r.(?)" "p.(Asn1215Ser)" "" "" "0000964239" "00006721" "50" "3706" "0" "3706" "0" "c.3706A>G" "r.(?)" "p.(Arg1236Gly)" "" "" "0000964240" "00006721" "50" "3991" "0" "3991" "0" "c.3991A>G" "r.(?)" "p.(Lys1331Glu)" "" "" "0000964242" "00006721" "90" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(Arg1400*)" "" "" "0000964244" "00006721" "50" "4558" "0" "4558" "0" "c.4558A>G" "r.(?)" "p.(Ser1520Gly)" "" "" "0000964245" "00006721" "50" "4750" "0" "4750" "0" "c.4750G>T" "r.(?)" "p.(Ala1584Ser)" "" "" "0000964246" "00006721" "50" "5315" "0" "5315" "0" "c.5315A>T" "r.(?)" "p.(Asp1772Val)" "" "" "0000964249" "00006721" "50" "5924" "0" "5924" "0" "c.5924T>C" "r.(?)" "p.(Val1975Ala)" "" "" "0000964250" "00006721" "50" "6002" "0" "6002" "0" "c.6002T>A" "r.(?)" "p.(Val2001Glu)" "" "" "0000964251" "00006721" "10" "6240" "0" "6240" "0" "c.6240C>T" "r.(?)" "p.(=)" "" "" "0000964252" "00006721" "50" "6935" "0" "6935" "0" "c.6935T>C" "r.(?)" "p.(Val2312Ala)" "" "" "0000964253" "00006721" "50" "7649" "0" "7649" "0" "c.7649G>A" "r.(?)" "p.(Gly2550Asp)" "" "" "0000964254" "00006721" "30" "7731" "0" "7731" "0" "c.7731C>A" "r.(?)" "p.(=)" "" "" "0000964255" "00006721" "50" "8524" "0" "8524" "0" "c.8524C>T" "r.(?)" "p.(Arg2842Cys)" "" "" "0000977335" "00006721" "10" "81" "0" "81" "0" "c.81C>G" "r.(?)" "p.(=)" "" "" "0000977336" "00006721" "10" "273" "10" "273" "10" "c.273+10C>T" "r.(=)" "p.(=)" "" "" "0000977337" "00006721" "50" "919" "0" "919" "0" "c.919C>G" "r.(?)" "p.(Gln307Glu)" "" "" "0000977338" "00006721" "50" "2037" "0" "2037" "0" "c.2037A>G" "r.(?)" "p.(Ile679Met)" "" "" "0000977339" "00006721" "30" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Asp782=)" "" "" "0000977340" "00006721" "30" "2771" "0" "2771" "0" "c.2771T>C" "r.(?)" "p.(Met924Thr)" "" "" "0000977341" "00006721" "10" "3096" "0" "3096" "0" "c.3096C>T" "r.(?)" "p.(=)" "" "" "0000977343" "00006721" "50" "3562" "0" "3562" "0" "c.3562T>C" "r.(?)" "p.(Tyr1188His)" "" "" "0000977344" "00006721" "70" "3799" "0" "3799" "0" "c.3799C>T" "r.(?)" "p.(Arg1267Ter)" "" "" "0000977345" "00006721" "50" "3862" "0" "3862" "0" "c.3862A>C" "r.(?)" "p.(Lys1288Gln)" "" "" "0000977346" "00006721" "10" "3963" "0" "3963" "0" "c.3963G>A" "r.(?)" "p.(Gln1321=)" "" "" "0000977347" "00006721" "90" "3999" "0" "4002" "0" "c.3999_4002del" "r.(?)" "p.(Glu1333Aspfs*15)" "" "" "0000977348" "00006721" "30" "4578" "0" "4578" "0" "c.4578C>A" "r.(?)" "p.(Asn1526Lys)" "" "" "0000977349" "00006721" "10" "4773" "0" "4773" "0" "c.4773G>A" "r.(?)" "p.(Arg1591=)" "" "" "0000977350" "00006721" "50" "4775" "0" "4775" "0" "c.4775A>G" "r.(?)" "p.(Lys1592Arg)" "" "" "0000977351" "00006721" "50" "4915" "0" "4915" "0" "c.4915G>A" "r.(?)" "p.(Val1639Met)" "" "" "0000977352" "00006721" "70" "5208" "0" "5209" "0" "c.5208_5209del" "r.(?)" "p.(Gly1737ThrfsTer7)" "" "" "0000977353" "00006721" "30" "5218" "0" "5218" "0" "c.5218G>A" "r.(?)" "p.(Glu1740Lys)" "" "" "0000977354" "00006721" "50" "5324" "0" "5324" "0" "c.5324G>T" "r.(?)" "p.(Arg1775Ile)" "" "" "0000977355" "00006721" "50" "6307" "0" "6307" "0" "c.6307A>G" "r.(?)" "p.(Lys2103Glu)" "" "" "0000977356" "00006721" "50" "6368" "0" "6368" "0" "c.6368G>A" "r.(?)" "p.(Arg2123His)" "" "" "0000977357" "00006721" "50" "6449" "0" "6449" "0" "c.6449C>G" "r.(?)" "p.(Ala2150Gly)" "" "" "0000977358" "00006721" "50" "6451" "0" "6451" "0" "c.6451C>T" "r.(?)" "p.(Arg2151Trp)" "" "" "0000977359" "00006721" "50" "7235" "0" "7235" "0" "c.7235C>A" "r.(?)" "p.(Thr2412Asn)" "" "" "0000977362" "00006721" "50" "7897" "0" "7897" "0" "c.7897A>T" "r.(?)" "p.(Ile2633Phe)" "" "" "0000977363" "00006721" "10" "7916" "0" "7916" "0" "c.7916G>A" "r.(?)" "p.(Arg2639Gln)" "" "" "0000977364" "00006721" "10" "7977" "0" "7977" "0" "c.7977C>T" "r.(?)" "p.(=)" "" "" "0000977365" "00006721" "50" "7994" "0" "7994" "0" "c.7994C>T" "r.(?)" "p.(Thr2665Met)" "" "" "0000977366" "00006721" "10" "8175" "0" "8175" "0" "c.8175C>A" "r.(?)" "p.(Arg2725=)" "" "" "0000977368" "00006721" "30" "8472" "0" "8483" "0" "c.8472_8483del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0000985218" "00006721" "30" "2583" "0" "2583" "0" "c.2583A>G" "r.(?)" "p.(Thr861=)" "" "" "0000987737" "00006721" "70" "2298" "-1" "2298" "-1" "c.2298-1G>C" "r.(?)" "p.(?)" "" "" "0000989336" "00006721" "90" "6041" "0" "6041" "0" "c.6041del" "r.(?)" "p.(Gly2014ValfsTer19)" "" "" "0000989488" "00006721" "50" "4466" "0" "4466" "0" "c.4466T>C" "r.(?)" "p.(Leu1489Pro)" "" "" "0000989687" "00006721" "90" "2001" "0" "2001" "0" "c.2001del" "r.(?)" "p.(Trp667Ter)" "" "" "0000989688" "00006721" "50" "5062" "0" "5062" "0" "c.5062G>A" "r.(?)" "p.(Ala1688Thr)" "" "" "0000989689" "00006721" "50" "5984" "0" "5984" "0" "c.5984T>C" "r.(?)" "p.(Leu1995Ser)" "" "" "0000989690" "00006721" "50" "6062" "0" "6062" "0" "c.6062C>G" "r.(?)" "p.(Ala2021Gly)" "" "" "0000989822" "00006721" "50" "273" "5" "273" "5" "c.273+5G>A" "r.spl?" "p.?" "" "" "0000995872" "00006721" "10" "12" "0" "12" "0" "c.12C>G" "r.(?)" "p.(Asn4Lys)" "" "" "0000995873" "00006721" "50" "82" "0" "82" "0" "c.82T>G" "r.(?)" "p.(Tyr28Asp)" "" "" "0000995874" "00006721" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Gly223Ser)" "" "" "0000995876" "00006721" "30" "1140" "6" "1140" "6" "c.1140+6T>C" "r.(=)" "p.(=)" "" "" "0000995877" "00006721" "50" "1222" "0" "1222" "0" "c.1222A>C" "r.(?)" "p.(Asn408His)" "" "" "0000995878" "00006721" "50" "1507" "0" "1507" "0" "c.1507A>T" "r.(?)" "p.(Met503Leu)" "" "" "0000995879" "00006721" "70" "1575" "-1" "1575" "-1" "c.1575-1G>T" "r.spl?" "p.?" "" "" "0000995880" "00006721" "50" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "" "" "0000995881" "00006721" "30" "2877" "18" "2877" "18" "c.2877+18A>C" "r.(=)" "p.(=)" "" "" "0000995882" "00006721" "30" "2878" "-5" "2878" "-5" "c.2878-5T>C" "r.spl?" "p.?" "" "" "0000995883" "00006721" "50" "3562" "0" "3562" "0" "c.3562T>C" "r.(?)" "p.(Tyr1188His)" "" "" "0000995884" "00006721" "70" "5327" "0" "5330" "0" "c.5327_5330del" "r.(?)" "p.(Glu1776Glyfs*4)" "" "" "0000995885" "00006721" "50" "5642" "0" "5642" "0" "c.5642T>C" "r.(?)" "p.(Ile1881Thr)" "" "" "0000995886" "00006721" "50" "5679" "0" "5679" "0" "c.5679C>G" "r.(?)" "p.(Asn1893Lys)" "" "" "0000995887" "00006721" "10" "5991" "0" "5991" "0" "c.5991G>A" "r.(?)" "p.(=)" "" "" "0000995889" "00006721" "30" "6467" "0" "6467" "0" "c.6467G>A" "r.(?)" "p.(Arg2156Lys)" "" "" "0000995891" "00006721" "30" "7168" "0" "7168" "0" "c.7168A>G" "r.(?)" "p.(Ile2390Val)" "" "" "0000995892" "00006721" "50" "7168" "0" "7168" "0" "c.7168A>G" "r.(?)" "p.(Ile2390Val)" "" "" "0000995894" "00006721" "50" "7735" "0" "7735" "0" "c.7735G>A" "r.(?)" "p.(Asp2579Asn)" "" "" "0000995896" "00006721" "50" "8184" "0" "8184" "0" "c.8184G>C" "r.(?)" "p.(Glu2728Asp)" "" "" "0000995899" "00006721" "50" "8390" "0" "8390" "0" "c.8390T>C" "r.(?)" "p.(Ile2797Thr)" "" "" "0001014232" "00006721" "50" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Gln471Arg)" "" "" "0001014233" "00006721" "10" "2131" "-5" "2131" "-5" "c.2131-5G>C" "r.spl?" "p.?" "" "" "0001014234" "00006721" "50" "2260" "0" "2260" "0" "c.2260G>A" "r.(?)" "p.(Glu754Lys)" "" "" "0001014235" "00006721" "50" "5066" "0" "5066" "0" "c.5066T>C" "r.(?)" "p.(Ile1689Thr)" "" "" "0001014238" "00006721" "90" "5837" "0" "5837" "0" "c.5837del" "r.(?)" "p.(Pro1946Hisfs*26)" "" "" "0001014239" "00006721" "50" "6800" "0" "6800" "0" "c.6800C>T" "r.(?)" "p.(Thr2267Ile)" "" "" "0001014240" "00006721" "50" "6851" "0" "6851" "0" "c.6851G>A" "r.(?)" "p.(Arg2284Gln)" "" "" "0001014241" "00006721" "30" "7077" "0" "7077" "0" "c.7077C>T" "r.(?)" "p.(=)" "" "" "0001014242" "00006721" "50" "8567" "0" "8567" "0" "c.8567C>T" "r.(?)" "p.(Ser2856Phe)" "" "" "0001016077" "00006721" "50" "2404" "0" "2404" "0" "c.2404G>A" "r.(?)" "p.(Asp802Asn)" "" "" "0001018823" "00006721" "50" "5801" "0" "5801" "0" "c.5801G>A" "r.(?)" "p.(Arg1934Gln)" "" "" "0001022171" "00006721" "70" "2793" "3" "2793" "3" "c.2793+3A>G" "r.[2793_2794insGT,=]" "p.[Asn932ValfsTer46,=]" "19i" "" "0001022178" "00006721" "50" "3609" "0" "3610" "0" "c.3609_3610delinsAG" "r.3609_3610delinsAG" "p.Met1203_Ser1204delinsIleGly" "23" "" "0001025258" "00006721" "50" "2125" "0" "2125" "0" "c.2125C>T" "r.(?)" "p.(Leu709Phe)" "" "" "0001025259" "00006721" "50" "2674" "0" "2674" "0" "c.2674C>T" "r.(?)" "p.(Arg892Cys)" "" "" "0001025260" "00006721" "30" "2683" "0" "2683" "0" "c.2683T>C" "r.(?)" "p.(Tyr895His)" "" "" "0001025261" "00006721" "50" "2933" "0" "2933" "0" "c.2933T>A" "r.(?)" "p.(Ile978Lys)" "" "" "0001025263" "00006721" "90" "4578" "0" "4578" "0" "c.4578del" "r.(?)" "p.(Asn1526Lysfs*3)" "" "" "0001025264" "00006721" "50" "4961" "0" "4961" "0" "c.4961T>C" "r.(?)" "p.(Leu1654Pro)" "" "" "0001025265" "00006721" "50" "4997" "0" "4997" "0" "c.4997G>A" "r.(?)" "p.(Arg1666Gln)" "" "" "0001025266" "00006721" "30" "5324" "0" "5324" "0" "c.5324G>T" "r.(?)" "p.(Arg1775Ile)" "" "" "0001025268" "00006721" "30" "6449" "0" "6449" "0" "c.6449C>G" "r.(?)" "p.(Ala2150Gly)" "" "" "0001025269" "00006721" "50" "6659" "0" "6659" "0" "c.6659C>A" "r.(?)" "p.(Thr2220Asn)" "" "" "0001025270" "00006721" "30" "6930" "0" "6930" "0" "c.6930A>G" "r.(?)" "p.(Leu2310=)" "" "" "0001025271" "00006721" "50" "7091" "0" "7091" "0" "c.7091G>T" "r.(?)" "p.(Gly2364Val)" "" "" "0001025272" "00006721" "30" "7125" "0" "7125" "0" "c.7125G>A" "r.(?)" "p.(Gly2375=)" "" "" "0001025274" "00006721" "50" "8231" "0" "8231" "0" "c.8231G>A" "r.(?)" "p.(Arg2744Lys)" "" "" "0001025275" "00006721" "50" "8590" "0" "8590" "0" "c.8590T>C" "r.(?)" "p.(Phe2864Leu)" "" "" "0001029869" "00006721" "50" "7994" "0" "7994" "0" "c.7994C>T" "r.(?)" "p.(Thr2665Met)" "" "" "0001029994" "00006721" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Arg160Ter)" "" "" "0001030927" "00006721" "50" "8081" "0" "8081" "0" "c.8081C>G" "r.(?)" "p.(Ala2694Gly)" "" "" "0001030931" "00006721" "50" "2617" "0" "2617" "0" "c.2617C>G" "r.(?)" "p.(Gln873Glu)" "" "" "0001035899" "00006721" "10" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Gly35=)" "" "" "0001035900" "00006721" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Val187=)" "" "" "0001035901" "00006721" "30" "741" "0" "741" "0" "c.741G>A" "r.(?)" "p.(Ala247=)" "" "" "0001035902" "00006721" "50" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Asp614Asn)" "" "" "0001035903" "00006721" "50" "2033" "0" "2033" "0" "c.2033A>G" "r.(?)" "p.(Gln678Arg)" "" "" "0001035904" "00006721" "30" "3706" "0" "3706" "0" "c.3706A>G" "r.(?)" "p.(Arg1236Gly)" "" "" "0001035905" "00006721" "50" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "" "" "0001035906" "00006721" "50" "4022" "0" "4022" "0" "c.4022G>A" "r.(?)" "p.(Arg1341His)" "" "" "0001035907" "00006721" "10" "4198" "0" "4198" "0" "c.4198C>A" "r.(?)" "p.(Arg1400=)" "" "" "0001035908" "00006721" "90" "4198" "0" "4198" "0" "c.4198C>T" "r.(?)" "p.(Arg1400*)" "" "" "0001035909" "00006721" "50" "4447" "0" "4447" "0" "c.4447A>T" "r.(?)" "p.(Ile1483Leu)" "" "" "0001035910" "00006721" "30" "4671" "0" "4671" "0" "c.4671G>A" "r.(?)" "p.(=)" "" "" "0001035912" "00006721" "50" "5617" "0" "5617" "0" "c.5617C>T" "r.(?)" "p.(Arg1873Cys)" "" "" "0001035913" "00006721" "50" "5794" "0" "5794" "0" "c.5794C>T" "r.(?)" "p.(Arg1932Cys)" "" "" "0001035915" "00006721" "30" "6075" "0" "6075" "0" "c.6075T>A" "r.(?)" "p.(Pro2025=)" "" "" "0001035921" "00006721" "50" "7589" "0" "7589" "0" "c.7589T>C" "r.(?)" "p.(Ile2530Thr)" "" "" "0001035922" "00006721" "50" "7745" "0" "7745" "0" "c.7745T>G" "r.(?)" "p.(Phe2582Cys)" "" "" "0001035923" "00006721" "30" "8481" "0" "8492" "0" "c.8481_8492del" "r.(?)" "p.(Ser2843_Arg2846del)" "" "" "0001035924" "00006721" "30" "8539" "0" "8539" "0" "c.8539A>C" "r.(?)" "p.(=)" "" "" "0001046075" "00006721" "50" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315His)" "" "" "0001046076" "00006721" "30" "1824" "0" "1824" "0" "c.1824A>G" "r.(?)" "p.(Ile608Met)" "" "" "0001046077" "00006721" "50" "3620" "0" "3620" "0" "c.3620G>A" "r.(?)" "p.(Arg1207Lys)" "" "" "0001046078" "00006721" "50" "4021" "0" "4021" "0" "c.4021C>T" "r.(?)" "p.(Arg1341Cys)" "" "" "0001046079" "00006721" "90" "5320" "0" "5321" "0" "c.5320_5321del" "r.(?)" "p.(Gln1774Glufs*11)" "" "" "0001046080" "00006721" "70" "6940" "0" "6940" "0" "c.6940dup" "r.(?)" "p.(Glu2314Glyfs*11)" "" "" "0001046999" "00006721" "70" "5253" "0" "5253" "0" "c.5253del" "r.(?)" "p.(Glu1751AspfsTer2)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 445 "{{screeningid}}" "{{variantid}}" "0000019852" "0000040312" "0000029026" "0000052368" "0000029027" "0000052369" "0000029033" "0000052374" "0000064164" "0000095127" "0000064201" "0000095188" "0000064213" "0000095228" "0000064220" "0000095257" "0000064228" "0000095286" "0000064232" "0000095302" "0000064243" "0000095338" "0000064248" "0000095353" "0000064256" "0000095405" "0000064256" "0000095406" "0000064260" "0000095416" "0000064267" "0000095439" "0000064268" "0000095445" "0000064275" "0000095469" "0000064290" "0000095514" "0000064296" "0000095532" "0000064297" "0000095543" "0000064298" "0000095546" "0000064301" "0000095560" "0000064302" "0000095562" "0000064307" "0000095579" "0000064316" "0000095609" "0000064319" "0000095617" "0000064321" "0000095621" "0000064322" "0000095624" "0000064325" "0000095634" "0000064330" "0000095650" "0000064343" "0000095692" "0000064353" "0000095724" "0000064355" "0000095729" "0000064401" "0000095793" "0000064402" "0000095794" "0000064403" "0000095795" "0000064404" "0000095796" "0000064405" "0000095797" "0000064843" "0000096481" "0000064873" "0000096526" "0000064874" "0000096527" "0000064904" "0000096559" "0000065286" "0000096959" "0000128830" "0000217960" "0000129222" "0000218354" "0000129231" "0000218369" "0000129237" "0000218378" "0000129245" "0000218390" "0000129260" "0000218407" "0000129261" "0000218409" "0000129263" "0000218411" "0000129266" "0000218416" "0000129277" "0000218430" "0000129288" "0000218445" "0000129294" "0000218454" "0000129298" "0000218459" "0000129316" "0000218484" "0000129328" "0000218502" "0000144628" "0000235436" "0000164731" "0000368305" "0000210309" "0000441997" "0000210310" "0000441998" "0000210387" "0000441755" "0000210388" "0000441756" "0000210389" "0000441757" "0000210389" "0000441758" "0000210390" "0000441759" "0000210391" "0000441760" "0000210392" "0000441761" "0000210393" "0000441762" "0000210394" "0000441763" "0000210395" "0000441764" "0000210396" "0000441765" "0000210397" "0000441766" "0000210397" "0000441767" "0000210398" "0000441768" "0000210399" "0000441769" "0000210400" "0000441770" "0000210401" "0000441771" "0000210402" "0000441772" "0000210403" "0000441773" "0000210403" "0000442441" "0000210403" "0000442442" "0000210403" "0000442443" "0000210403" "0000442444" "0000210403" "0000442445" "0000210404" "0000441774" "0000210405" "0000441775" "0000210406" "0000441776" "0000210407" "0000441777" "0000210408" "0000441778" "0000210409" "0000441779" "0000210410" "0000441780" "0000210411" "0000441781" "0000210412" "0000441782" "0000210413" "0000441783" "0000210414" "0000441784" "0000210415" "0000441785" "0000210416" "0000441786" "0000210417" "0000441787" "0000210418" "0000441788" "0000210419" "0000441789" "0000210420" "0000441790" "0000210421" "0000441791" "0000210422" "0000441792" "0000210423" "0000441793" "0000210424" "0000441794" "0000210425" "0000441795" "0000210426" "0000441796" "0000210427" "0000441797" "0000210428" "0000441798" "0000210429" "0000441799" "0000210430" "0000441800" "0000210431" "0000441801" "0000210432" "0000441802" "0000210433" "0000441803" "0000210434" "0000441804" "0000210435" "0000441805" "0000210436" "0000441806" "0000210437" "0000441807" "0000210438" "0000441808" "0000210439" "0000441809" "0000210440" "0000441810" "0000210441" "0000441811" "0000210442" "0000441812" "0000210443" "0000441813" "0000210444" "0000441814" "0000210445" "0000441815" "0000210446" "0000441816" "0000210447" "0000441817" "0000210448" "0000441818" "0000210449" "0000441819" "0000210450" "0000441820" "0000210451" "0000441821" "0000210452" "0000441822" "0000210453" "0000441823" "0000210454" "0000441824" "0000210455" "0000441825" "0000210456" "0000441826" "0000210457" "0000441827" "0000210458" "0000441828" "0000210459" "0000441829" "0000210460" "0000441830" "0000210461" "0000441831" "0000210462" "0000441832" "0000210463" "0000441833" "0000210464" "0000441834" "0000210465" "0000441835" "0000210465" "0000441836" "0000210466" "0000441837" "0000210467" "0000441838" "0000210468" "0000441839" "0000210469" "0000441840" "0000210470" "0000441841" "0000210470" "0000441842" "0000210471" "0000441843" "0000210472" "0000441844" "0000210473" "0000441845" "0000210474" "0000441846" "0000210475" "0000441847" "0000210476" "0000441848" "0000210477" "0000441849" "0000210478" "0000441850" "0000210479" "0000441851" "0000210480" "0000441852" "0000210481" "0000441853" "0000210482" "0000441854" "0000210483" "0000441855" "0000210484" "0000441856" "0000210485" "0000441857" "0000210486" "0000441858" "0000210487" "0000441859" "0000210488" "0000441860" "0000210489" "0000441861" "0000210490" "0000441862" "0000210491" "0000441863" "0000210492" "0000441864" "0000210493" "0000441865" "0000210494" "0000441866" "0000210495" "0000441867" "0000210496" "0000441868" "0000210497" "0000441869" "0000210498" "0000441870" "0000210499" "0000441871" "0000210500" "0000441872" "0000210500" 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