### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = JUP) # 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}}" "JUP" "junction plakoglobin" "17" "q21" "unknown" "NG_009090.2" "UD_132118681519" "" "https://www.LOVD.nl/JUP" "ARVD/C genetic variants database " "1" "6207" "3728" "173325" "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/JUP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-01-23 00:00:00" "00006" "2018-12-23 12:07:19" "00000" "2026-01-20 18:57:21" ## 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}}" "00010288" "JUP" "transcript variant 1" "002" "NM_002230.2" "" "NP_002221.1" "" "" "" "-133" "3375" "2238" "39942964" "39910859" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "02347" "NXD" "Naxos disease (NXD)" "AR" "601214" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03038" "ARVD12" "dysplasia, ventricular, right, arrhythmogenic, type 12 (ARVD-12)" "AD" "611528" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04170" "BRGDA" "Brugada syndrome (BRGDA)" "" "" "" "" "" "00006" "2015-01-17 14:28:24" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05099" "ARVD/C" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "" "" "" "" "00006" "2015-10-31 14:39:33" "00006" "2018-12-23 15:01:47" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "JUP" "02347" "JUP" "03038" ## Individuals ## Do not remove or alter this header ## ## Count = 96 "{{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}}" "00016145" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00016146" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00028980" "" "" "" "1" "" "00066" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "M" "" "Spain" ">30y" "0" "" "" "European" "" "00064133" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064178" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064273" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00101451" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "M" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamJPat14" "00102672" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "M" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamA" "00102673" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "isolated case" "" "" "Greece" "" "0" "" "" "Naxos" "10902626-PatB" "00102674" "" "" "" "2" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 2 affecteds (2M), unaffected heterozygous carrier parents/sibs" "M" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamC" "00102675" "" "" "" "2" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 2 affecteds (2F), unaffected heterozygous carrier parents/sibs" "F" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamD" "00102676" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "isolated case" "M" "" "Greece" "" "0" "" "" "Naxos" "10902626-PatE" "00102677" "" "" "" "2" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/sibs" "F;M" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamF" "00102678" "" "" "" "3" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents/sibs" "F;M" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamG" "00102679" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "isolated case" "" "" "Greece" "" "0" "" "" "Naxos" "10902626-PatH" "00102680" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "isolated case" "M" "" "Greece" "" "0" "" "" "Naxos" "10902626-PatI" "00102681" "" "" "" "2" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "M" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamK" "00102682" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "isolated case" "M" "" "Greece" "" "0" "" "" "Naxos" "10902626-PatL" "00102683" "" "" "" "2" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents/sibs" "F;M" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamM" "00102684" "" "" "" "1" "" "00006" "{PMID:McKoy 2000:10902626}" "2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs" "F" "" "Greece" "" "0" "" "" "Naxos" "10902626-FamN" "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" "00143769" "" "" "" "1" "" "02335" "" "" "M" "" "" "" "0" "" "" "" "" "00209086" "" "" "" "3" "" "00802" "Tsatsopoulou (escardio.org ID19 2397)" "JUP variant found in 3 relatives of DSC2 p.Ala45ProfsX10 proband" "" "" "" "" "0" "" "" "" "" "00209567" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209568" "" "" "" "3" "" "00802" "{PMID:Asimaki(1):17924338}" "autosomal dominant; no cutaneous abnormalities" "" "" "" "" "0" "" "" "" "" "00209569" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209570" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209571" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209572" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209573" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209574" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209575" "" "" "" "1" "" "00802" "{PMID:Koopmann:17556197}" "" "" "" "" "" "0" "" "" "" "" "00209576" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209577" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209578" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209579" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209580" "" "" "" "1" "" "00802" "{PMID:Lazaros:19165571}" "TFC+; Naxos-disease: woolly hair; skin abnormalities" "" "" "" "" "0" "" "" "" "" "00209581" "" "" "" "1" "" "00802" "{PMID:Ly:18672408}" "No skin abnormalities" "" "" "" "" "0" "" "" "" "" "00209582" "" "" "" "1" "" "00802" "{PMID:Asimaki 2009:19279339}" "" "" "" "" "" "0" "" "" "" "" "00209583" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" "" "00209584" "" "" "" "1" "" "00802" "" "Found once in 140 patients" "" "" "" "" "0" "" "" "" "" "00209585" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209586" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209587" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209588" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209589" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209590" "" "" "" "1" "" "00802" "" "Found once in 220 patients" "" "" "" "" "0" "" "" "" "" "00209591" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209592" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" "" "00209593" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209594" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209595" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209596" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209597" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209598" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209599" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209600" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209601" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209602" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209603" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209604" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209605" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209606" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209607" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209608" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209609" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209610" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209611" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209612" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209613" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209614" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209615" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209616" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209617" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00209618" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" "" "00291703" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291704" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291705" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291706" "" "" "" "199" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304575" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316850" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316851" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317024" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317025" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317026" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317027" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317028" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317029" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317030" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317031" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00446845" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat144" "00453155" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam427Pat454" "00453186" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam260Pat275" "00453187" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam402Pat434" "00453773" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV803" "00453798" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV990" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 96 "{{individualid}}" "{{diseaseid}}" "00016145" "00351" "00016146" "00351" "00028980" "04170" "00064133" "00351" "00064178" "00351" "00064273" "00351" "00101451" "02347" "00102672" "02347" "00102673" "02347" "00102674" "02347" "00102675" "02347" "00102676" "02347" "00102677" "02347" "00102678" "02347" "00102679" "02347" "00102680" "02347" "00102681" "02347" "00102682" "02347" "00102683" "02347" "00102684" "02347" "00128393" "00198" "00143769" "05099" "00209086" "00198" "00209567" "00198" "00209568" "05099" "00209569" "00198" "00209570" "00198" "00209571" "00198" "00209572" "00198" "00209573" "00198" "00209574" "00198" "00209575" "00198" "00209576" "00198" "00209577" "00198" "00209578" "00198" "00209579" "00198" "00209580" "02347" "00209581" "05099" "00209582" "05099" "00209583" "05099" "00209584" "00198" "00209585" "00198" "00209586" "00198" "00209587" "00198" "00209588" "00198" "00209589" "00198" "00209590" "00198" "00209591" "05099" "00209592" "05099" "00209593" "00198" "00209594" "00198" "00209595" "00198" "00209596" "00198" "00209597" "00198" "00209598" "00198" "00209599" "00198" "00209600" "00198" "00209601" "00198" "00209602" "00198" "00209603" "00198" "00209604" "00198" "00209605" "00198" "00209606" "00198" "00209607" "00198" "00209608" "00198" "00209609" "00198" "00209610" "00198" "00209611" "00198" "00209612" "00198" "00209613" "00198" "00209614" "00198" "00209615" "00198" "00209616" "00198" "00209617" "00198" "00209618" "00198" "00291703" "00198" "00291704" "00198" "00291705" "00198" "00291706" "00198" "00304575" "00198" "00316850" "04172" "00316851" "04172" "00317024" "04172" "00317025" "04172" "00317026" "04172" "00317027" "04172" "00317028" "04172" "00317029" "04172" "00317030" "04172" "00317031" "04172" "00446845" "04173" "00453155" "04172" "00453186" "04172" "00453187" "04172" "00453773" "00152" "00453798" "00152" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00152, 00198, 00351, 02347, 03038, 04170, 04172, 04173, 05099 ## Count = 90 "{{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}}" "0000014930" "00351" "00016145" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000014931" "00351" "00016146" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000050649" "00351" "00064133" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050694" "00351" "00064178" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050789" "00351" "00064273" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000080849" "02347" "00101451" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "WB JUP reduced size (82 kDa > 75 kDa)" "" "" "" "" "" "" "" "0000080850" "02347" "00102672" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080851" "02347" "00102673" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080852" "02347" "00102674" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080853" "02347" "00102675" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080854" "02347" "00102676" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080855" "02347" "00102677" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080856" "02347" "00102678" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080857" "02347" "00102679" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080858" "02347" "00102680" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080859" "02347" "00102681" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080860" "02347" "00102682" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080861" "02347" "00102683" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000080862" "02347" "00102684" "00006" "Familial, autosomal recessive" "" "arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma, woolly hair (Naxos disease)" "" "" "" "" "" "" "" "" "" "" "" "0000100609" "00198" "00128393" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000116539" "05099" "00143769" "02335" "Familial" "51y" "suspected ARVD/C" "" "" "" "" "" "" "" "" "" "" "" "0000157692" "00198" "00209086" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158166" "00198" "00209567" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158167" "05099" "00209568" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-12" "ARVD/C" "" "0000158168" "00198" "00209569" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158169" "00198" "00209570" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158170" "00198" "00209571" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158171" "00198" "00209572" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158172" "00198" "00209573" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158173" "00198" "00209574" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158174" "00198" "00209575" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158175" "00198" "00209576" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158176" "00198" "00209577" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158177" "00198" "00209578" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158178" "00198" "00209579" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158179" "02347" "00209580" "00802" "Unknown" "" "Naxos syndrome" "" "" "" "" "" "" "" "" "NXD" "Naxos syndrome" "" "0000158180" "05099" "00209581" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-12" "ARVD/C" "" "0000158181" "05099" "00209582" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-12" "ARVD/C" "" "0000158182" "05099" "00209583" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-12" "ARVD/C" "" "0000158183" "00198" "00209584" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158184" "00198" "00209585" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158185" "00198" "00209586" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158186" "00198" "00209587" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158187" "00198" "00209588" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158188" "00198" "00209589" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158189" "00198" "00209590" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158190" "05099" "00209591" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-12" "ARVD/C" "" "0000158191" "05099" "00209592" "00802" "Unknown" "" "ARVD/C, Task Force Criteria positive" "" "" "" "" "" "" "" "" "ARVD-12" "ARVD/C" "" "0000158192" "00198" "00209593" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158193" "00198" "00209594" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158194" "00198" "00209595" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158195" "00198" "00209596" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158196" "00198" "00209597" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158197" "00198" "00209598" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158198" "00198" "00209599" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158199" "00198" "00209600" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158200" "00198" "00209601" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158201" "00198" "00209602" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158202" "00198" "00209603" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158203" "00198" "00209604" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158204" "00198" "00209605" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158205" "00198" "00209606" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158206" "00198" "00209607" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158207" "00198" "00209608" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158208" "00198" "00209609" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158209" "00198" "00209610" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158210" "00198" "00209611" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158211" "00198" "00209612" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158212" "00198" "00209613" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158213" "00198" "00209614" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158214" "00198" "00209615" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158215" "00198" "00209616" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158216" "00198" "00209617" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000158217" "00198" "00209618" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000240596" "04172" "00316850" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240597" "04172" "00316851" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240770" "04172" "00317024" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240771" "04172" "00317025" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240772" "04172" "00317026" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240773" "04172" "00317027" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240774" "04172" "00317028" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240775" "04172" "00317029" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240776" "04172" "00317030" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000240777" "04172" "00317031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "0000336049" "04173" "00446845" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000341801" "04172" "00453155" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341832" "04172" "00453186" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341833" "04172" "00453187" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000342430" "00152" "00453773" "00006" "Unknown" "" "large ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342455" "00152" "00453798" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" ## Screenings ## Do not remove or alter this header ## ## Count = 96 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016267" "00016145" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000016268" "00016146" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000029021" "00028980" "1" "00066" "00066" "2015-01-12 16:07:55" "" "" "SEQ" "DNA" "" "" "0000064266" "00064133" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064311" "00064178" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064406" "00064273" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000101898" "00101451" "1" "00006" "01921" "2010-12-22 12:00:00" "" "" "SEQ" "DNA" "" "" "0000103123" "00102672" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103124" "00102673" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103125" "00102674" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103126" "00102675" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103127" "00102676" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103128" "00102677" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103129" "00102678" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103130" "00102679" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103131" "00102680" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103132" "00102681" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103133" "00102682" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103134" "00102683" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000103135" "00102684" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" "" "0000129231" "00128393" "1" "02244" "02244" "2017-09-15 15:27:40" "" "" "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" "" "0000210143" "00209086" "1" "00802" "00802" "2009-06-17 16:09:41" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210624" "00209567" "1" "00802" "00802" "2009-01-30 10:38:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210625" "00209568" "1" "00802" "00802" "2009-01-30 10:41:25" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210626" "00209569" "1" "00802" "00802" "2009-01-30 10:44:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210627" "00209570" "1" "00802" "00802" "2009-01-30 10:46:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210628" "00209571" "1" "00802" "00802" "2009-01-30 10:52:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210629" "00209572" "1" "00802" "00802" "2009-01-30 10:58:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210630" "00209573" "1" "00802" "00802" "2009-01-30 11:22:30" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210631" "00209574" "1" "00802" "00802" "2009-01-30 11:23:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210632" "00209575" "1" "00802" "00802" "2009-01-30 11:55:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210633" "00209576" "1" "00802" "00802" "2009-02-24 10:08:27" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210634" "00209577" "1" "00802" "00802" "2009-02-24 10:20:23" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210635" "00209578" "1" "00802" "00802" "2009-02-24 10:21:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210636" "00209579" "1" "00802" "00802" "2009-02-24 10:22:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210637" "00209580" "1" "00802" "00802" "2009-03-09 11:02:47" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210638" "00209581" "1" "00802" "00802" "2009-03-09 11:04:43" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210639" "00209582" "1" "00802" "00802" "2009-03-13 16:14:49" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210640" "00209583" "1" "00802" "00802" "2009-06-18 16:20:45" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" "" "0000210641" "00209584" "1" "00802" "00802" "2009-07-28 13:01:56" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210642" "00209585" "1" "00802" "00802" "2009-07-28 13:03:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210643" "00209586" "1" "00802" "00802" "2009-07-28 13:04:28" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210644" "00209587" "1" "00802" "00802" "2009-07-28 13:05:49" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210645" "00209588" "1" "00802" "00802" "2009-07-28 13:07:12" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210646" "00209589" "1" "00802" "00802" "2009-07-28 13:08:27" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210647" "00209590" "1" "00802" "00802" "2009-07-28 13:10:59" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210648" "00209591" "1" "00802" "00802" "2010-02-05 14:46:22" "" "" "SEQ" "DNA" "" "" "0000210649" "00209592" "1" "00802" "00802" "2010-02-05 14:48:53" "" "" "SEQ" "DNA" "" "" "0000210650" "00209593" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210651" "00209594" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210652" "00209595" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210653" "00209596" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210654" "00209597" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210655" "00209598" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210656" "00209599" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210657" "00209600" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210658" "00209601" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210659" "00209602" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210660" "00209603" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210661" "00209604" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210662" "00209605" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210663" "00209606" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210664" "00209607" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210665" "00209608" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210666" "00209609" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210667" "00209610" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210668" "00209611" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210669" "00209612" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210670" "00209613" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210671" "00209614" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210672" "00209615" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210673" "00209616" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210674" "00209617" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000210675" "00209618" "1" "00802" "00802" "2014-10-15 16:39:19" "" "" "SEQ" "DNA" "" "" "0000292871" "00291703" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292872" "00291704" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292873" "00291705" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292874" "00291706" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305704" "00304575" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000318032" "00316850" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318033" "00316851" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318206" "00317024" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318207" "00317025" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318208" "00317026" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318209" "00317027" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318210" "00317028" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318211" "00317029" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318212" "00317030" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318213" "00317031" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000448420" "00446845" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454766" "00453155" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454797" "00453186" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454798" "00453187" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000455385" "00453773" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455410" "00453798" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 91 "{{screeningid}}" "{{geneid}}" "0000016267" "JUP" "0000016267" "MYBPC3" "0000016267" "TTN" "0000016268" "JUP" "0000016268" "MYBPC3" "0000016268" "RYR2" "0000016268" "TTN" "0000064266" "TTN" "0000064311" "TTN" "0000064406" "JUP" "0000101898" "JUP" "0000103123" "JUP" "0000103124" "JUP" "0000103125" "JUP" "0000103126" "JUP" "0000103127" "JUP" "0000103128" "JUP" "0000103129" "JUP" "0000103130" "JUP" "0000103131" "JUP" "0000103132" "JUP" "0000103133" "JUP" "0000103134" "JUP" "0000103135" "JUP" "0000144628" "DSP" "0000144628" "JUP" "0000144628" "PKP2" "0000210143" "DSC2" "0000210143" "JUP" "0000210624" "JUP" "0000210625" "JUP" "0000210626" "JUP" "0000210627" "JUP" "0000210628" "JUP" "0000210629" "JUP" "0000210630" "JUP" "0000210631" "JUP" "0000210632" "JUP" "0000210633" "JUP" "0000210634" "JUP" "0000210635" "JUP" "0000210636" "JUP" "0000210637" "JUP" "0000210638" "JUP" "0000210639" "JUP" "0000210640" "JUP" "0000210641" "JUP" "0000210642" "JUP" "0000210643" "JUP" "0000210644" "JUP" "0000210645" "JUP" "0000210646" "JUP" "0000210647" "JUP" "0000210648" "JUP" "0000210649" "JUP" "0000210650" "JUP" "0000210651" "JUP" "0000210652" "JUP" "0000210653" "JUP" "0000210654" "JUP" "0000210655" "JUP" "0000210656" "JUP" "0000210657" "JUP" "0000210658" "JUP" "0000210659" "JUP" "0000210660" "JUP" "0000210661" "JUP" "0000210662" "JUP" "0000210663" "JUP" "0000210664" "JUP" "0000210665" "JUP" "0000210666" "JUP" "0000210667" "JUP" "0000210668" "JUP" "0000210669" "JUP" "0000210670" "JUP" "0000210671" "JUP" "0000210672" "JUP" "0000210673" "JUP" "0000210674" "JUP" "0000210675" "JUP" "0000318032" "JUP" "0000318033" "JUP" "0000318206" "JUP" "0000318207" "JUP" "0000318208" "JUP" "0000318209" "JUP" "0000318210" "JUP" "0000318211" "JUP" "0000318212" "JUP" "0000318213" "JUP" ## 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 = 529 "{{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}}" "0000036016" "1" "55" "17" "39923625" "39923625" "subst" "0.00208693" "00668" "JUP_000070" "g.39923625G>A" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.41767373G>A" "" "VUS" "" "0000036017" "1" "55" "17" "39923625" "39923625" "subst" "0.00208693" "00668" "JUP_000070" "g.39923625G>A" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.41767373G>A" "" "VUS" "" "0000052361" "1" "50" "17" "39925453" "39925453" "subst" "3.42228E-5" "00066" "JUP_000026" "g.39925453C>A" "" "{PMID:Allegue 2015:26230511}, {DOI:Allegue 2015:10.1371/journal.pone.0133037}" "" "" "" "Germline" "yes" "" "0" "" "" "g.41769201C>A" "" "VUS" "" "0000095437" "0" "50" "17" "39921027" "39921027" "subst" "0" "00006" "JUP_000072" "g.39921027G>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_002230:c.C1096G" "" "Germline" "" "" "0" "" "" "g.41764775G>C" "" "VUS" "" "0000095592" "0" "50" "17" "39919408" "39919408" "subst" "4.06121E-5" "00006" "JUP_000071" "g.39919408T>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_002230:c.A1324T" "" "Germline" "" "" "0" "" "" "g.41763156T>A" "" "VUS" "" "0000095798" "1" "50" "17" "39912444" "39912444" "subst" "9.76094E-5" "00006" "JUP_000073" "g.39912444T>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_002230:c.A2069G" "" "Germline" "" "" "0" "" "" "g.41756192T>C" "" "VUS" "" "0000164640" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "WB JUP reduced size (82 kDa > 75 kDa)" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166214" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166215" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166216" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166217" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166218" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166219" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166220" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166221" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166222" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166223" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166224" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166225" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000166226" "3" "90" "17" "39913674" "39913675" "del" "0" "00006" "JUP_000074" "g.39913674_39913675del" "" "{PMID:McKoy 2000:10902626}, {OMIM173325:0001}" "Bst01-" "2157del2" "" "Germline" "yes" "rs113994177" "0" "" "" "g.41757422_41757423del" "" "pathogenic" "" "0000218370" "0" "50" "17" "39915002" "39915002" "subst" "0" "02244" "JUP_000075" "g.39915002G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.41758750G>A" "" "VUS" "" "0000235437" "0" "30" "17" "39923625" "39923625" "subst" "0.00208693" "02335" "JUP_000070" "g.39923625G>A" "" "" "" "" "In silico analyses: no effect" "Germline/De novo (untested)" "" "" "0" "" "" "g.41767373G>A" "" "likely benign" "" "0000247423" "0" "10" "17" "39925925" "39925925" "subst" "0.71088" "02330" "JUP_000005" "g.39925925A>G" "" "" "" "JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769673A>G" "" "benign" "" "0000247424" "0" "10" "17" "39923614" "39923614" "subst" "0.752169" "02330" "JUP_000011" "g.39923614A>G" "" "" "" "JUP(NM_002230.2):c.909+17T>C, JUP(NM_002230.4):c.909+17T>C, JUP(NM_021991.2):c.909+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767362A>G" "" "benign" "" "0000247443" "0" "10" "17" "39913688" "39913688" "subst" "0.000576598" "02330" "JUP_000088" "g.39913688A>G" "" "" "" "JUP(NM_002230.2):c.2025T>C (p.H675=), JUP(NM_002230.4):c.2025T>C (p.H675=), JUP(NM_021991.2):c.2025T>C (p.H675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757436A>G" "" "benign" "" "0000247837" "0" "10" "17" "39925925" "39925925" "subst" "0.71088" "02325" "JUP_000005" "g.39925925A>G" "" "" "" "JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769673A>G" "" "benign" "" "0000247849" "0" "10" "17" "39923614" "39923614" "subst" "0.752169" "02325" "JUP_000011" "g.39923614A>G" "" "" "" "JUP(NM_002230.2):c.909+17T>C, JUP(NM_002230.4):c.909+17T>C, JUP(NM_021991.2):c.909+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767362A>G" "" "benign" "" "0000248383" "0" "10" "17" "39913688" "39913688" "subst" "0.000576598" "02325" "JUP_000088" "g.39913688A>G" "" "" "" "JUP(NM_002230.2):c.2025T>C (p.H675=), JUP(NM_002230.4):c.2025T>C (p.H675=), JUP(NM_021991.2):c.2025T>C (p.H675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757436A>G" "" "benign" "" "0000249406" "0" "30" "17" "39914747" "39914747" "subst" "0" "02325" "JUP_000107" "g.39914747A>G" "" "" "" "JUP(NM_002230.2):c.1677T>C (p.I559=), JUP(NM_002230.4):c.1677T>C (p.I559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758495A>G" "" "likely benign" "" "0000250619" "0" "10" "17" "39925925" "39925925" "subst" "0.71088" "02326" "JUP_000005" "g.39925925A>G" "" "" "" "JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769673A>G" "" "benign" "" "0000250631" "0" "10" "17" "39923614" "39923614" "subst" "0.752169" "02326" "JUP_000011" "g.39923614A>G" "" "" "" "JUP(NM_002230.2):c.909+17T>C, JUP(NM_002230.4):c.909+17T>C, JUP(NM_021991.2):c.909+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767362A>G" "" "benign" "" "0000252289" "0" "30" "17" "39913807" "39913807" "subst" "0.000300534" "02326" "JUP_000096" "g.39913807A>C" "" "" "" "JUP(NM_002230.4):c.1925-19T>G, JUP(NM_021991.2):c.1925-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757555A>C" "" "likely benign" "" "0000252719" "0" "50" "17" "39923731" "39923731" "subst" "0" "02326" "JUP_000166" "g.39923731A>C" "" "" "" "JUP(NM_002230.2):c.809T>G (p.L270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767479A>C" "" "VUS" "" "0000252971" "0" "10" "17" "39925925" "39925925" "subst" "0.71088" "01943" "JUP_000005" "g.39925925A>G" "" "" "" "JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769673A>G" "" "benign" "" "0000252983" "0" "10" "17" "39923614" "39923614" "subst" "0.752169" "01943" "JUP_000011" "g.39923614A>G" "" "" "" "JUP(NM_002230.2):c.909+17T>C, JUP(NM_002230.4):c.909+17T>C, JUP(NM_021991.2):c.909+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767362A>G" "" "benign" "" "0000278197" "0" "10" "17" "39911994" "39911994" "subst" "0.00157031" "02330" "JUP_000080" "g.39911994G>A" "" "" "" "JUP(NM_002230.4):c.*2C>T, JUP(NM_021991.2):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755742G>A" "" "benign" "" "0000278198" "0" "50" "17" "39921190" "39921190" "subst" "2.03158E-5" "02330" "JUP_000127" "g.39921190C>T" "" "" "" "JUP(NM_002230.4):c.1039G>A (p.A347T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41764938C>T" "" "VUS" "" "0000278199" "0" "10" "17" "39921168" "39921168" "subst" "9.34701E-5" "02330" "JUP_000126" "g.39921168T>A" "" "" "" "JUP(NM_002230.4):c.1054+7A>T, JUP(NM_021991.2):c.1054+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41764916T>A" "" "benign" "" "0000278200" "0" "50" "17" "39921023" "39921023" "subst" "0" "02330" "JUP_000125" "g.39921023C>G" "" "" "" "JUP(NM_002230.4):c.1100G>C (p.R367P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41764771C>G" "" "VUS" "" "0000278201" "0" "10" "17" "39919586" "39919586" "subst" "0.000655168" "02330" "JUP_000123" "g.39919586G>T" "" "" "" "JUP(NM_002230.4):c.1159-13C>A, JUP(NM_021991.2):c.1159-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763334G>T" "" "benign" "" "0000278202" "0" "10" "17" "39919593" "39919593" "subst" "4.51705E-5" "02330" "JUP_000124" "g.39919593C>T" "" "" "" "JUP(NM_002230.4):c.1159-20G>A, JUP(NM_021991.2):c.1159-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763341C>T" "" "benign" "" "0000278203" "0" "10" "17" "39919508" "39919508" "subst" "0.00135276" "02330" "JUP_000014" "g.39919508G>A" "" "" "" "JUP(NM_002230.4):c.1224C>T (p.L408=), JUP(NM_021991.2):c.1224C>T (p.L408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763256G>A" "" "benign" "" "0000278204" "0" "50" "17" "39919401" "39919401" "subst" "1.62459E-5" "02330" "JUP_000119" "g.39919401C>T" "" "" "" "JUP(NM_001352773.2):c.1331G>A (p.R444H), JUP(NM_002230.4):c.1331G>A (p.R444H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763149C>T" "" "VUS" "" "0000278205" "0" "50" "17" "39919366" "39919366" "subst" "0.000268171" "02330" "JUP_000117" "g.39919366C>T" "" "" "" "JUP(NM_002230.2):c.1366G>A (p.V456I), JUP(NM_002230.4):c.1366G>A (p.V456I), JUP(NM_021991.2):c.1366G>A (p.V456I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763114C>T" "" "VUS" "" "0000278206" "0" "50" "17" "39919235" "39919235" "subst" "0" "02330" "JUP_000113" "g.39919235C>G" "" "" "" "JUP(NM_002230.4):c.1497G>C (p.K499N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41762983C>G" "" "VUS" "" "0000278207" "0" "50" "17" "39915113" "39915113" "subst" "0.000103003" "02330" "JUP_000112" "g.39915113C>T" "" "" "" "JUP(NM_002230.4):c.1507G>A (p.G503S), JUP(NM_021991.2):c.1507G>A (p.G503S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758861C>T" "" "VUS" "" "0000278208" "0" "10" "17" "39915057" "39915057" "subst" "0.0067834" "02330" "JUP_000025" "g.39915057T>C" "" "" "" "JUP(NM_002230.2):c.1563A>G (p.A521=), JUP(NM_002230.4):c.1563A>G (p.A521=), JUP(NM_021991.2):c.1563A>G (p.A521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758805T>C" "" "benign" "" "0000278209" "0" "10" "17" "39914957" "39914957" "subst" "0.0107746" "02330" "JUP_000031" "g.39914957G>T" "" "" "" "JUP(NM_002230.2):c.1653+10C>A, JUP(NM_002230.4):c.1653+10C>A, JUP(NM_021991.2):c.1653+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758705G>T" "" "benign" "" "0000278210" "0" "10" "17" "39914775" "39914779" "del" "0" "02330" "JUP_000109" "g.39914775_39914779del" "" "" "" "JUP(NM_002230.4):c.1654-9_1654-5delCTCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758523_41758527del" "" "benign" "" "0000278211" "0" "50" "17" "39914758" "39914758" "subst" "0" "02330" "JUP_000108" "g.39914758T>C" "" "" "" "JUP(NM_002230.4):c.1666A>G (p.M556V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758506T>C" "" "VUS" "" "0000278212" "0" "50" "17" "39914694" "39914694" "subst" "8.12546E-6" "02330" "JUP_000105" "g.39914694C>T" "" "" "" "JUP(NM_001352773.2):c.1730G>A (p.R577H), JUP(NM_002230.2):c.1730G>A (p.R577H), JUP(NM_002230.4):c.1730G>A (p.R577H), JUP(NM_021991.2):c.1730G>A (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758442C>T" "" "VUS" "" "0000278213" "0" "50" "17" "39914679" "39914679" "subst" "0" "02330" "JUP_000104" "g.39914679C>T" "" "" "" "JUP(NM_002230.4):c.1745G>A (p.R582Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758427C>T" "" "VUS" "" "0000278214" "0" "10" "17" "39914049" "39914049" "subst" "0.00532696" "02330" "JUP_000060" "g.39914049G>A" "" "" "" "JUP(NM_002230.4):c.1774-13C>T, JUP(NM_021991.2):c.1774-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757797G>A" "" "benign" "" "0000278215" "0" "10" "17" "39914042" "39914042" "subst" "0.00216253" "02330" "JUP_000102" "g.39914042G>A" "" "" "" "JUP(NM_002230.2):c.1774-6C>T, JUP(NM_002230.4):c.1774-6C>T, JUP(NM_021991.2):c.1774-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757790G>A" "" "benign" "" "0000278216" "0" "50" "17" "39913928" "39913928" "subst" "4.10573E-5" "02330" "JUP_000100" "g.39913928C>T" "" "" "" "JUP(NM_002230.4):c.1882G>A (p.A628T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757676C>T" "" "VUS" "" "0000278217" "0" "50" "17" "39913900" "39913900" "subst" "7.81186E-5" "02330" "JUP_000097" "g.39913900C>T" "" "" "" "JUP(NM_002230.4):c.1910G>A (p.R637H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757648C>T" "" "VUS" "" "0000278218" "0" "10" "17" "39913771" "39913771" "subst" "0.00722007" "02330" "JUP_000017" "g.39913771C>T" "" "" "" "JUP(NM_002230.2):c.1942G>A (p.V648I, p.(Val648Ile)), JUP(NM_002230.4):c.1942G>A (p.V648I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757519C>T" "" "benign" "" "0000278219" "0" "50" "17" "39913726" "39913726" "subst" "8.1211E-6" "02330" "JUP_000092" "g.39913726G>A" "" "" "" "JUP(NM_002230.4):c.1987C>T (p.R663C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757474G>A" "" "VUS" "" "0000278220" "0" "10" "17" "39913724" "39913724" "subst" "6.49693E-5" "02330" "JUP_000091" "g.39913724G>A" "" "" "" "JUP(NM_002230.4):c.1989C>T (p.R663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757472G>A" "" "benign" "" "0000278221" "0" "10" "17" "39913682" "39913682" "subst" "0.000227393" "02330" "JUP_000087" "g.39913682C>T" "" "" "" "JUP(NM_002230.4):c.2031G>A (p.P677=), JUP(NM_021991.2):c.2031G>A (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757430C>T" "" "benign" "" "0000278222" "0" "10" "17" "39912480" "39912480" "subst" "0.00185818" "02330" "JUP_000034" "g.39912480G>C" "" "" "" "JUP(NM_002230.4):c.2047-14C>G, JUP(NM_021991.2):c.2047-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41756228G>C" "" "benign" "" "0000278223" "0" "10" "17" "39912454" "39912454" "subst" "0.000235935" "02330" "JUP_000085" "g.39912454T>C" "" "" "" "JUP(NM_002230.4):c.2059A>G (p.I687V), JUP(NM_021991.2):c.2059A>G (p.I687V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41756202T>C" "" "benign" "" "0000278224" "0" "10" "17" "39912414" "39912414" "subst" "0.000106008" "02330" "JUP_000084" "g.39912414G>A" "" "" "" "JUP(NM_002230.4):c.2086+13C>T, JUP(NM_021991.2):c.2086+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41756162G>A" "" "benign" "" "0000278225" "0" "10" "17" "39912145" "39912145" "subst" "0.647822" "02330" "JUP_000020" "g.39912145T>A" "" "" "" "JUP(NM_002230.2):c.2089A>T (p.M697L), JUP(NM_002230.4):c.2089A>T (p.M697L), JUP(NM_021991.2):c.2089A>T (p.M697L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755893T>A" "" "benign" "" "0000278226" "0" "10" "17" "39925880" "39925880" "subst" "5.2603E-5" "02330" "JUP_000157" "g.39925880C>T" "" "" "" "JUP(NM_002230.4):c.258G>A (p.R86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769628C>T" "" "benign" "" "0000278227" "0" "50" "17" "39925726" "39925726" "subst" "2.48139E-5" "02330" "JUP_000153" "g.39925726C>T" "" "" "" "JUP(NM_002230.4):c.412G>A (p.E138K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769474C>T" "" "VUS" "" "0000278228" "0" "10" "17" "39925713" "39925713" "subst" "0.0438129" "02330" "JUP_000007" "g.39925713C>T" "" "" "" "JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769461C>T" "" "benign" "" "0000278229" "0" "10" "17" "39925679" "39925679" "subst" "4.59371E-5" "02330" "JUP_000150" "g.39925679G>A" "" "" "" "JUP(NM_002230.4):c.459C>T (p.D153=), JUP(NM_021991.2):c.459C>T (p.D153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769427G>A" "" "benign" "" "0000278230" "0" "50" "17" "39925678" "39925678" "subst" "3.34829E-5" "02330" "JUP_000149" "g.39925678C>T" "" "" "" "JUP(NM_001352773.2):c.460G>A (p.E154K), JUP(NM_002230.4):c.460G>A (p.E154K), JUP(NM_021991.2):c.460G>A (p.E154K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769426C>T" "" "VUS" "" "0000278231" "0" "10" "17" "39925442" "39925442" "subst" "0.0006871" "02330" "JUP_000148" "g.39925442C>T" "" "" "" "JUP(NM_002230.4):c.486G>A (p.A162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769190C>T" "" "benign" "" "0000278232" "0" "10" "17" "39925361" "39925361" "subst" "0.000305255" "02330" "JUP_000008" "g.39925361G>A" "" "" "" "JUP(NM_002230.4):c.567C>T (p.V189=), JUP(NM_021991.2):c.567C>T (p.V189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769109G>A" "" "benign" "" "0000278233" "0" "50" "17" "39928051" "39928051" "subst" "0.000122915" "02330" "JUP_000028" "g.39928051G>A" "" "" "" "JUP(NM_002230.4):c.56C>T (p.T19I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41771799G>A" "" "VUS" "" "0000278234" "0" "50" "17" "39923794" "39923794" "subst" "1.22074E-5" "02330" "JUP_000136" "g.39923794G>A" "" "" "" "JUP(NM_002230.2):c.746C>T (p.T249M), JUP(NM_002230.4):c.746C>T (p.T249M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767542G>A" "" "VUS" "" "0000278235" "0" "10" "17" "39923673" "39923673" "subst" "0.00359867" "02330" "JUP_000010" "g.39923673G>A" "" "" "" "JUP(NM_002230.4):c.867C>T (p.T289=), JUP(NM_021991.2):c.867C>T (p.T289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767421G>A" "" "benign" "" "0000278236" "0" "10" "17" "39923625" "39923625" "subst" "0.00208693" "02330" "JUP_000070" "g.39923625G>A" "" "" "" "JUP(NM_002230.2):c.909+6C>T (p.?), JUP(NM_002230.4):c.909+6C>T, JUP(NM_021991.2):c.909+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767373G>A" "" "benign" "" "0000278237" "0" "10" "17" "39921287" "39921287" "subst" "2.84299E-5" "02330" "JUP_000128" "g.39921287G>A" "" "" "" "JUP(NM_002230.4):c.942C>T (p.A314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41765035G>A" "" "benign" "" "0000281657" "0" "30" "17" "39911978" "39911978" "subst" "0.000723676" "02325" "JUP_000078" "g.39911978G>T" "" "" "" "JUP(NM_002230.4):c.*18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755726G>T" "" "likely benign" "" "0000281658" "0" "10" "17" "39919586" "39919586" "subst" "0.000655168" "02325" "JUP_000123" "g.39919586G>T" "" "" "" "JUP(NM_002230.4):c.1159-13C>A, JUP(NM_021991.2):c.1159-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763334G>T" "" "benign" "" "0000281659" "0" "30" "17" "39919593" "39919593" "subst" "4.51705E-5" "02325" "JUP_000124" "g.39919593C>T" "" "" "" "JUP(NM_002230.4):c.1159-20G>A, JUP(NM_021991.2):c.1159-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763341C>T" "" "likely benign" "" "0000281660" "0" "30" "17" "39919355" "39919355" "subst" "0.000130034" "02325" "JUP_000116" "g.39919355C>A" "" "" "" "JUP(NM_002230.4):c.1377G>T (p.L459=), JUP(NM_021991.2):c.1377G>T (p.L459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763103C>A" "" "likely benign" "" "0000281661" "0" "30" "17" "39927960" "39927960" "subst" "8.12585E-6" "02325" "JUP_000163" "g.39927960G>A" "" "" "" "JUP(NM_002230.4):c.147C>T (p.C49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41771708G>A" "" "likely benign" "" "0000281662" "0" "50" "17" "39919246" "39919246" "subst" "0" "02325" "JUP_000114" "g.39919246G>T" "" "" "" "JUP(NM_002230.4):c.1486C>A (p.P496T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41762994G>T" "" "VUS" "" "0000281663" "0" "50" "17" "39915113" "39915113" "subst" "0.000103003" "02325" "JUP_000112" "g.39915113C>T" "" "" "" "JUP(NM_002230.4):c.1507G>A (p.G503S), JUP(NM_021991.2):c.1507G>A (p.G503S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758861C>T" "" "VUS" "" "0000281664" "0" "30" "17" "39915057" "39915057" "subst" "0.0067834" "02325" "JUP_000025" "g.39915057T>C" "" "" "" "JUP(NM_002230.2):c.1563A>G (p.A521=), JUP(NM_002230.4):c.1563A>G (p.A521=), JUP(NM_021991.2):c.1563A>G (p.A521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758805T>C" "" "likely benign" "" "0000281665" "0" "30" "17" "39914049" "39914049" "subst" "0.00532696" "02325" "JUP_000060" "g.39914049G>A" "" "" "" "JUP(NM_002230.4):c.1774-13C>T, JUP(NM_021991.2):c.1774-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757797G>A" "" "likely benign" "" "0000281666" "0" "30" "17" "39914042" "39914042" "subst" "0.00216253" "02325" "JUP_000102" "g.39914042G>A" "" "" "" "JUP(NM_002230.2):c.1774-6C>T, JUP(NM_002230.4):c.1774-6C>T, JUP(NM_021991.2):c.1774-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757790G>A" "" "likely benign" "" "0000281667" "0" "50" "17" "39914023" "39914023" "subst" "0" "02325" "JUP_000101" "g.39914023G>A" "" "" "" "JUP(NM_002230.4):c.1787C>T (p.S596L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757771G>A" "" "VUS" "" "0000281668" "0" "30" "17" "39913908" "39913908" "subst" "5.75199E-5" "02325" "JUP_000099" "g.39913908C>A" "" "" "" "JUP(NM_001352773.2):c.1902G>T (p.L634=), JUP(NM_002230.4):c.1902G>T (p.L634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757656C>A" "" "likely benign" "" "0000281669" "0" "30" "17" "39913771" "39913771" "subst" "0.00722007" "02325" "JUP_000017" "g.39913771C>T" "" "" "" "JUP(NM_002230.2):c.1942G>A (p.V648I, p.(Val648Ile)), JUP(NM_002230.4):c.1942G>A (p.V648I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757519C>T" "" "likely benign" "" "0000281670" "0" "30" "17" "39913768" "39913768" "subst" "4.87286E-5" "02325" "JUP_000093" "g.39913768G>A" "" "" "" "JUP(NM_002230.2):c.1945C>T (p.L649=), JUP(NM_002230.4):c.1945C>T (p.L649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757516G>A" "" "likely benign" "" "0000281671" "0" "30" "17" "39913689" "39913689" "subst" "8.1211E-6" "02325" "JUP_000089" "g.39913689T>C" "" "" "" "JUP(NM_002230.4):c.2024A>G (p.H675R), JUP(NM_021991.2):c.2024A>G (p.H675R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757437T>C" "" "likely benign" "" "0000281672" "0" "30" "17" "39912165" "39912165" "subst" "1.69784E-5" "02325" "JUP_000083" "g.39912165G>A" "" "" "" "JUP(NM_002230.4):c.2087-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755913G>A" "" "likely benign" "" "0000281673" "0" "10" "17" "39912145" "39912145" "subst" "0.647822" "02325" "JUP_000020" "g.39912145T>A" "" "" "" "JUP(NM_002230.2):c.2089A>T (p.M697L), JUP(NM_002230.4):c.2089A>T (p.M697L), JUP(NM_021991.2):c.2089A>T (p.M697L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755893T>A" "" "benign" "" "0000281674" "0" "30" "17" "39912026" "39912026" "subst" "2.89644E-5" "02325" "JUP_000081" "g.39912026C>T" "" "" "" "JUP(NM_002230.4):c.2208G>A (p.P736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755774C>T" "" "likely benign" "" "0000281675" "0" "30" "17" "39925803" "39925803" "subst" "6.94137E-5" "02325" "JUP_000155" "g.39925803T>C" "" "" "" "JUP(NM_002230.4):c.335A>G (p.N112S), JUP(NM_021991.2):c.335A>G (p.N112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769551T>C" "" "likely benign" "" "0000281676" "0" "10" "17" "39925713" "39925713" "subst" "0.0438129" "02325" "JUP_000007" "g.39925713C>T" "" "" "" "JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769461C>T" "" "benign" "" "0000281677" "0" "30" "17" "39925442" "39925442" "subst" "0.0006871" "02325" "JUP_000148" "g.39925442C>T" "" "" "" "JUP(NM_002230.4):c.486G>A (p.A162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769190C>T" "" "likely benign" "" "0000281678" "0" "30" "17" "39925339" "39925339" "subst" "0" "02325" "JUP_000145" "g.39925339T>C" "" "" "" "JUP(NM_002230.4):c.589A>G (p.S197G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769087T>C" "" "likely benign" "" "0000281679" "0" "50" "17" "39925320" "39925320" "subst" "3.29951E-5" "02325" "JUP_000143" "g.39925320C>T" "" "" "" "JUP(NM_001352773.2):c.608G>A (p.R203H), JUP(NM_002230.4):c.608G>A (p.R203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769068C>T" "" "VUS" "" "0000281680" "0" "30" "17" "39925274" "39925274" "subst" "2.52279E-5" "02325" "JUP_000142" "g.39925274C>T" "" "" "" "JUP(NM_001352773.2):c.654G>A (p.G218=), JUP(NM_002230.4):c.654G>A (p.G218=), JUP(NM_021991.2):c.654G>A (p.G218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769022C>T" "" "likely benign" "" "0000281681" "0" "50" "17" "39923794" "39923794" "subst" "1.22074E-5" "02325" "JUP_000136" "g.39923794G>A" "" "" "" "JUP(NM_002230.2):c.746C>T (p.T249M), JUP(NM_002230.4):c.746C>T (p.T249M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767542G>A" "" "VUS" "" "0000281682" "0" "50" "17" "39923762" "39923762" "subst" "2.03169E-5" "02325" "JUP_000135" "g.39923762C>T" "" "" "" "JUP(NM_002230.4):c.778G>A (p.A260T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767510C>T" "" "VUS" "" "0000281683" "0" "50" "17" "39923691" "39923691" "subst" "1.21838E-5" "02325" "JUP_000133" "g.39923691C>A" "" "" "" "JUP(NM_002230.4):c.849G>T (p.K283N), JUP(NM_021991.2):c.849G>T (p.K283N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767439C>A" "" "VUS" "" "0000281684" "0" "30" "17" "39923625" "39923625" "subst" "0.00208693" "02325" "JUP_000070" "g.39923625G>A" "" "" "" "JUP(NM_002230.2):c.909+6C>T (p.?), JUP(NM_002230.4):c.909+6C>T, JUP(NM_021991.2):c.909+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767373G>A" "" "likely benign" "" "0000281685" "0" "30" "17" "39928098" "39928098" "subst" "0" "02325" "JUP_000165" "g.39928098C>G" "" "" "" "JUP(NM_002230.4):c.9G>C (p.V3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41771846C>G" "" "likely benign" "" "0000285441" "0" "10" "17" "39911975" "39911975" "subst" "0.00292493" "02326" "JUP_000021" "g.39911975G>T" "" "" "" "JUP(NM_001352774.2):c.*14+7C>A, JUP(NM_021991.2):c.*14+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755723G>T" "" "benign" "" "0000285442" "0" "30" "17" "39919366" "39919366" "subst" "0.000268171" "02326" "JUP_000117" "g.39919366C>T" "" "" "" "JUP(NM_002230.2):c.1366G>A (p.V456I), JUP(NM_002230.4):c.1366G>A (p.V456I), JUP(NM_021991.2):c.1366G>A (p.V456I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763114C>T" "" "likely benign" "" "0000285443" "0" "10" "17" "39914957" "39914957" "subst" "0.0107746" "02326" "JUP_000031" "g.39914957G>T" "" "" "" "JUP(NM_002230.2):c.1653+10C>A, JUP(NM_002230.4):c.1653+10C>A, JUP(NM_021991.2):c.1653+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758705G>T" "" "benign" "" "0000285444" "0" "50" "17" "39914699" "39914699" "subst" "2.03123E-5" "02326" "JUP_000106" "g.39914699C>A" "" "" "" "JUP(NM_001352773.2):c.1725G>T (p.M575I), JUP(NM_021991.2):c.1725G>T (p.M575I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758447C>A" "" "VUS" "" "0000285445" "0" "10" "17" "39914049" "39914049" "subst" "0.00532696" "02326" "JUP_000060" "g.39914049G>A" "" "" "" "JUP(NM_002230.4):c.1774-13C>T, JUP(NM_021991.2):c.1774-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757797G>A" "" "benign" "" "0000285446" "0" "50" "17" "39913901" "39913901" "subst" "3.69898E-5" "02326" "JUP_000098" "g.39913901G>A" "" "" "" "JUP(NM_002230.4):c.1909C>T (p.R637C), JUP(NM_021991.2):c.1909C>T (p.R637C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757649G>A" "" "VUS" "" "0000285447" "0" "30" "17" "39913772" "39913772" "subst" "0.000239582" "02326" "JUP_000095" "g.39913772G>A" "" "" "" "JUP(NM_021991.2):c.1941C>T (p.A647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757520G>A" "" "likely benign" "" "0000285448" "0" "10" "17" "39913771" "39913771" "subst" "0.00722007" "02326" "JUP_000017" "g.39913771C>T" "" "" "" "JUP(NM_002230.2):c.1942G>A (p.V648I, p.(Val648Ile)), JUP(NM_002230.4):c.1942G>A (p.V648I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757519C>T" "" "benign" "" "0000285449" "0" "30" "17" "39927762" "39927762" "subst" "0" "02326" "JUP_000162" "g.39927762T>C" "" "" "" "JUP(NM_002230.2):c.208+137A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41771510T>C" "" "likely benign" "" "0000285450" "0" "30" "17" "39912414" "39912414" "subst" "0.000106008" "02326" "JUP_000084" "g.39912414G>A" "" "" "" "JUP(NM_002230.4):c.2086+13C>T, JUP(NM_021991.2):c.2086+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41756162G>A" "" "likely benign" "" "0000285451" "0" "10" "17" "39912145" "39912145" "subst" "0.647822" "02326" "JUP_000020" "g.39912145T>A" "" "" "" "JUP(NM_002230.2):c.2089A>T (p.M697L), JUP(NM_002230.4):c.2089A>T (p.M697L), JUP(NM_021991.2):c.2089A>T (p.M697L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755893T>A" "" "benign" "" "0000285452" "0" "50" "17" "39925764" "39925764" "subst" "4.14831E-6" "02326" "JUP_000042" "g.39925764G>A" "" "" "" "JUP(NM_001352773.2):c.374C>T (p.S125L), JUP(NM_021991.2):c.374C>T (p.S125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769512G>A" "" "VUS" "" "0000285453" "0" "10" "17" "39925713" "39925713" "subst" "0.0438129" "02326" "JUP_000007" "g.39925713C>T" "" "" "" "JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769461C>T" "" "benign" "" "0000285454" "0" "30" "17" "39925712" "39925712" "subst" "0.000152864" "02326" "JUP_000151" "g.39925712G>A" "" "" "" "JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769460G>A" "" "likely benign" "" "0000285455" "0" "50" "17" "39925678" "39925678" "subst" "3.34829E-5" "02326" "JUP_000149" "g.39925678C>T" "" "" "" "JUP(NM_001352773.2):c.460G>A (p.E154K), JUP(NM_002230.4):c.460G>A (p.E154K), JUP(NM_021991.2):c.460G>A (p.E154K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769426C>T" "" "VUS" "" "0000285456" "0" "30" "17" "39925274" "39925274" "subst" "2.52279E-5" "02326" "JUP_000142" "g.39925274C>T" "" "" "" "JUP(NM_001352773.2):c.654G>A (p.G218=), JUP(NM_002230.4):c.654G>A (p.G218=), JUP(NM_021991.2):c.654G>A (p.G218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769022C>T" "" "likely benign" "" "0000285457" "0" "50" "17" "39923733" "39923733" "subst" "8.12354E-6" "02326" "JUP_000134" "g.39923733C>A" "" "" "" "JUP(NM_001352773.2):c.807G>T (p.G269=), JUP(NM_021991.2):c.807G>T (p.G269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767481C>A" "" "VUS" "" "0000285458" "0" "10" "17" "39923673" "39923673" "subst" "0" "02326" "JUP_000132" "g.39923673G>C" "" "" "" "JUP(NM_002230.2):c.867C>G (p.T289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767421G>C" "" "benign" "" "0000285459" "0" "50" "17" "39923638" "39923638" "subst" "1.62542E-5" "02326" "JUP_000052" "g.39923638T>C" "" "" "" "JUP(NM_002230.2):c.902A>G (p.E301G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767386T>C" "" "VUS" "" "0000285460" "0" "30" "17" "39923625" "39923625" "subst" "0.00208693" "02326" "JUP_000070" "g.39923625G>A" "" "" "" "JUP(NM_002230.2):c.909+6C>T (p.?), JUP(NM_002230.4):c.909+6C>T, JUP(NM_021991.2):c.909+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767373G>A" "" "likely benign" "" "0000289962" "0" "10" "17" "39911994" "39911994" "subst" "0.00157031" "01943" "JUP_000080" "g.39911994G>A" "" "" "" "JUP(NM_002230.4):c.*2C>T, JUP(NM_021991.2):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755742G>A" "" "benign" "" "0000289963" "0" "10" "17" "39919586" "39919586" "subst" "0.000655168" "01943" "JUP_000123" "g.39919586G>T" "" "" "" "JUP(NM_002230.4):c.1159-13C>A, JUP(NM_021991.2):c.1159-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763334G>T" "" "benign" "" "0000289964" "0" "10" "17" "39919593" "39919593" "subst" "4.51705E-5" "01943" "JUP_000124" "g.39919593C>T" "" "" "" "JUP(NM_002230.4):c.1159-20G>A, JUP(NM_021991.2):c.1159-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763341C>T" "" "benign" "" "0000289965" "0" "30" "17" "39919560" "39919560" "subst" "0.000244608" "01943" "JUP_000122" "g.39919560C>T" "" "" "" "JUP(NM_001352773.2):c.1172G>A (p.S391N), JUP(NM_021991.2):c.1172G>A (p.S391N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763308C>T" "" "likely benign" "" "0000289966" "0" "50" "17" "39919513" "39919513" "subst" "2.03143E-5" "01943" "JUP_000053" "g.39919513C>T" "" "" "" "JUP(NM_001352773.2):c.1219G>A (p.V407I), JUP(NM_021991.2):c.1219G>A (p.V407I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763261C>T" "" "VUS" "" "0000289967" "0" "10" "17" "39919508" "39919508" "subst" "0.00135276" "01943" "JUP_000014" "g.39919508G>A" "" "" "" "JUP(NM_002230.4):c.1224C>T (p.L408=), JUP(NM_021991.2):c.1224C>T (p.L408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763256G>A" "" "benign" "" "0000289968" "0" "50" "17" "39919377" "39919377" "subst" "6.09389E-5" "01943" "JUP_000118" "g.39919377G>A" "" "" "" "JUP(NM_021991.2):c.1355C>T (p.T452M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763125G>A" "" "VUS" "" "0000289969" "0" "50" "17" "39919366" "39919366" "subst" "0.000268171" "01943" "JUP_000117" "g.39919366C>T" "" "" "" "JUP(NM_002230.2):c.1366G>A (p.V456I), JUP(NM_002230.4):c.1366G>A (p.V456I), JUP(NM_021991.2):c.1366G>A (p.V456I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763114C>T" "" "VUS" "" "0000289970" "0" "50" "17" "39919263" "39919263" "subst" "0" "01943" "JUP_000115" "g.39919263T>C" "" "" "" "JUP(NM_002230.2):c.1469A>G (p.N490S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41763011T>C" "" "VUS" "" "0000289971" "0" "30" "17" "39915057" "39915057" "subst" "0.0067834" "01943" "JUP_000025" "g.39915057T>C" "" "" "" "JUP(NM_002230.2):c.1563A>G (p.A521=), JUP(NM_002230.4):c.1563A>G (p.A521=), JUP(NM_021991.2):c.1563A>G (p.A521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758805T>C" "" "likely benign" "" "0000289972" "0" "10" "17" "39914957" "39914957" "subst" "0.0107746" "01943" "JUP_000031" "g.39914957G>T" "" "" "" "JUP(NM_002230.2):c.1653+10C>A, JUP(NM_002230.4):c.1653+10C>A, JUP(NM_021991.2):c.1653+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758705G>T" "" "benign" "" "0000289973" "0" "50" "17" "39914694" "39914694" "subst" "8.12546E-6" "01943" "JUP_000105" "g.39914694C>T" "" "" "" "JUP(NM_001352773.2):c.1730G>A (p.R577H), JUP(NM_002230.2):c.1730G>A (p.R577H), JUP(NM_002230.4):c.1730G>A (p.R577H), JUP(NM_021991.2):c.1730G>A (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41758442C>T" "" "VUS" "" "0000289974" "0" "10" "17" "39914049" "39914049" "subst" "0.00532696" "01943" "JUP_000060" "g.39914049G>A" "" "" "" "JUP(NM_002230.4):c.1774-13C>T, JUP(NM_021991.2):c.1774-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757797G>A" "" "benign" "" "0000289975" "0" "10" "17" "39914042" "39914042" "subst" "0.00216253" "01943" "JUP_000102" "g.39914042G>A" "" "" "" "JUP(NM_002230.2):c.1774-6C>T, JUP(NM_002230.4):c.1774-6C>T, JUP(NM_021991.2):c.1774-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757790G>A" "" "benign" "" "0000289976" "0" "10" "17" "39913771" "39913771" "subst" "0.00722007" "01943" "JUP_000017" "g.39913771C>T" "" "" "" "JUP(NM_002230.2):c.1942G>A (p.V648I, p.(Val648Ile)), JUP(NM_002230.4):c.1942G>A (p.V648I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757519C>T" "" "benign" "" "0000289977" "0" "50" "17" "39913692" "39913692" "subst" "0" "01943" "JUP_000090" "g.39913692T>C" "" "" "" "JUP(NM_002230.2):c.2021A>G (p.K674R), JUP(NM_002230.4):c.2021A>G (p.K674R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757440T>C" "" "VUS" "" "0000289978" "0" "30" "17" "39913682" "39913682" "subst" "0.000227393" "01943" "JUP_000087" "g.39913682C>T" "" "" "" "JUP(NM_002230.4):c.2031G>A (p.P677=), JUP(NM_021991.2):c.2031G>A (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41757430C>T" "" "likely benign" "" "0000289979" "0" "10" "17" "39912480" "39912480" "subst" "0.00185818" "01943" "JUP_000034" "g.39912480G>C" "" "" "" "JUP(NM_002230.4):c.2047-14C>G, JUP(NM_021991.2):c.2047-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41756228G>C" "" "benign" "" "0000289980" "0" "10" "17" "39912145" "39912145" "subst" "0.647822" "01943" "JUP_000020" "g.39912145T>A" "" "" "" "JUP(NM_002230.2):c.2089A>T (p.M697L), JUP(NM_002230.4):c.2089A>T (p.M697L), JUP(NM_021991.2):c.2089A>T (p.M697L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755893T>A" "" "benign" "" "0000289981" "0" "30" "17" "39925900" "39925900" "subst" "0" "01943" "JUP_000160" "g.39925900C>T" "" "" "" "JUP(NM_021991.2):c.238G>A (p.A80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769648C>T" "" "likely benign" "" "0000289982" "0" "50" "17" "39925888" "39925888" "subst" "0" "01943" "JUP_000159" "g.39925888G>A" "" "" "" "JUP(NM_021991.2):c.250C>T (p.R84W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769636G>A" "" "VUS" "" "0000289983" "0" "10" "17" "39925713" "39925713" "subst" "0.0438129" "01943" "JUP_000007" "g.39925713C>T" "" "" "" "JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769461C>T" "" "benign" "" "0000289984" "0" "30" "17" "39925712" "39925712" "subst" "0.000152864" "01943" "JUP_000151" "g.39925712G>A" "" "" "" "JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769460G>A" "" "likely benign" "" "0000289985" "0" "50" "17" "39925426" "39925426" "subst" "0" "01943" "JUP_000147" "g.39925426G>C" "" "" "" "JUP(NM_021991.2):c.502C>G (p.Q168E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769174G>C" "" "VUS" "" "0000289986" "0" "50" "17" "39925321" "39925321" "subst" "6.58941E-5" "01943" "JUP_000144" "g.39925321G>A" "" "" "" "JUP(NM_021991.2):c.607C>T (p.R203C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769069G>A" "" "VUS" "" "0000289987" "0" "50" "17" "39925253" "39925253" "subst" "2.56566E-5" "01943" "JUP_000141" "g.39925253C>T" "" "" "" "JUP(NM_001352773.2):c.675G>A (p.S225=), JUP(NM_021991.2):c.675G>A (p.S225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41769001C>T" "" "VUS" "" "0000289988" "0" "30" "17" "39923842" "39923842" "subst" "0" "01943" "JUP_000140" "g.39923842T>G" "" "" "" "JUP(NM_002230.2):c.708-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767590T>G" "" "likely benign" "" "0000289989" "0" "50" "17" "39923834" "39923834" "subst" "0" "01943" "JUP_000138" "g.39923834T>G" "" "" "" "JUP(NM_002230.2):c.708-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767582T>G" "" "VUS" "" "0000289990" "0" "10" "17" "39923836" "39923836" "subst" "0.000158111" "01943" "JUP_000045" "g.39923836G>C" "" "" "" "JUP(NM_001352773.2):c.708-4C>G, JUP(NM_002230.4):c.708-4C>G, JUP(NM_021991.2):c.708-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767584G>C" "" "benign" "" "0000289991" "0" "30" "17" "39923802" "39923802" "subst" "0" "01943" "JUP_000137" "g.39923802G>A" "" "" "" "JUP(NM_002230.2):c.738C>T (p.A246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767550G>A" "" "likely benign" "" "0000289992" "0" "50" "17" "39923691" "39923691" "subst" "1.21838E-5" "01943" "JUP_000133" "g.39923691C>A" "" "" "" "JUP(NM_002230.4):c.849G>T (p.K283N), JUP(NM_021991.2):c.849G>T (p.K283N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767439C>A" "" "VUS" "" "0000289993" "0" "10" "17" "39923673" "39923673" "subst" "0.00359867" "01943" "JUP_000010" "g.39923673G>A" "" "" "" "JUP(NM_002230.4):c.867C>T (p.T289=), JUP(NM_021991.2):c.867C>T (p.T289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767421G>A" "" "benign" "" "0000289994" "0" "30" "17" "39923625" "39923625" "subst" "0.00208693" "01943" "JUP_000070" "g.39923625G>A" "" "" "" "JUP(NM_002230.2):c.909+6C>T (p.?), JUP(NM_002230.4):c.909+6C>T, JUP(NM_021991.2):c.909+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41767373G>A" "" "likely benign" "" "0000325394" "0" "30" "17" "39911975" "39911975" "subst" "0.00292493" "01804" "JUP_000021" "g.39911975G>T" "" "" "" "JUP(NM_001352774.2):c.*14+7C>A, JUP(NM_021991.2):c.*14+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755723G>T" "" "likely benign" "" "0000325395" "0" "50" "17" "39911977" "39911977" "subst" "0" "01804" "JUP_000077" "g.39911977C>G" "" "" "" "JUP(NM_002230.2):c.*19G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755725C>G" "" "VUS" "" "0000325396" "0" "50" "17" "39911981" "39911981" "subst" "0" "01804" "JUP_000079" "g.39911981C>A" "" "" "" "JUP(NM_002230.2):c.*15G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41755729C>A" "" "VUS" "" "0000441393" "0" "15" "17" "39928011" "39928011" "subst" "0" "00802" "JUP_000002" "g.39928011G>A" "" "" "" "" "" "Germline" "" "rs11655659" "0" "" "" "g.41771759G>A" "" "benign" "" "0000441394" "0" "11" "17" "39925733" "39925733" "subst" "0.00798217" "00802" "JUP_000006" "g.39925733G>A" "" "" "" "" "" "Germline" "" "rs17850807" "0" "" "" "g.41769481G>A" "" "benign" "" "0000441395" "0" "11" "17" "39925361" "39925361" "subst" "0.000305255" "00802" "JUP_000008" "g.39925361G>A" "" "" "" "" "" "Germline" "" "rs35297577" "0" "" "" "g.41769109G>A" "" "benign" "" "0000441396" "0" "11" "17" "39923763" "39923763" "subst" "0.00113767" "00802" "JUP_000009" "g.39923763G>A" "" "" "" "" "" "Germline" "" "rs34890640" "0" "" "" "g.41767511G>A" "" "benign" "" "0000441397" "0" "11" "17" "39923673" "39923673" "subst" "0.00359867" "00802" "JUP_000010" "g.39923673G>A" "" "" "" "" "" "Germline" "" "rs2230407" "0" "" "" "g.41767421G>A" "" "benign" "" "0000441398" "0" "11" "17" "39923578" "39923578" "subst" "0" "00802" "JUP_000012" "g.39923578G>A" "" "" "" "" "" "Germline" "" "rs61669548" "0" "" "" "g.41767326G>A" "" "benign" "" "0000441399" "0" "11" "17" "39920932" "39920932" "subst" "0" "00802" "JUP_000013" "g.39920932G>A" "" "" "" "" "" "Germline" "" "rs12945129" "0" "" "" "g.41764680G>A" "" "benign" "" "0000441400" "0" "11" "17" "39919508" "39919508" "subst" "0.00135276" "00802" "JUP_000014" "g.39919508G>A" "" "" "" "" "" "Germline" "" "rs2230408" "0" "" "" "g.41763256G>A" "" "benign" "" "0000441401" "0" "11" "17" "39914070" "39914070" "subst" "0.665439" "00802" "JUP_000015" "g.39914070G>T" "" "" "" "" "" "Germline" "" "rs8067890" "0" "" "" "g.41757818G>T" "" "benign" "" "0000441402" "0" "11" "17" "39912474" "39912474" "del" "0" "00802" "JUP_000019" "g.39912474del" "" "" "" "2047-4delT" "" "Germline" "" "rs34793353" "0" "" "" "g.41756222del" "" "benign" "" "0000441403" "0" "15" "17" "39911975" "39911975" "subst" "0.00292493" "00802" "JUP_000021" "g.39911975G>T" "" "" "" "*14+7C>A" "" "Germline" "" "rs41275669" "0" "" "" "g.41755723G>T" "" "benign" "" "0000441404" "0" "11" "17" "39942822" "39942823" "del" "0" "00802" "JUP_000036" "g.39942822_39942823del" "" "" "" "-9+17_-9+18del2" "" "Germline" "" "rs67537421" "0" "" "" "g.41786570_41786571del" "" "benign" "" "0000441405" "0" "11" "17" "39925617" "39925617" "subst" "0" "00802" "JUP_000037" "g.39925617C>T" "" "" "" "" "" "Germline" "" "rs71373451" "0" "" "" "g.41769365C>T" "" "benign" "" "0000441406" "0" "11" "17" "39914070" "39914070" "del" "0" "00802" "JUP_000038" "g.39914070del" "" "" "" "1774-33delC" "" "Germline" "" "rs68106005" "0" "" "" "g.41757818del" "" "benign" "" "0000442000" "0" "11" "17" "39942919" "39942919" "subst" "0" "00802" "JUP_000001" "g.39942919T>C" "" "{PMID:Koopmann:17556197}, ARVD/C database 7592" "" "" "" "Germline" "" "rs4796702" "0" "" "" "g.41786667T>C" "" "benign" "" "0000442001" "0" "99" "17" "39927994" "39927996" "dup" "0" "00802" "JUP_000003" "g.39927994_39927996dup" "" "{PMID:Asimaki(1):17924338}, ARVD/C database 7511" "" "" "" "Germline" "" "" "0" "" "" "g.41771742_41771744dup" "" "pathogenic" "" "0000442002" "0" "11" "17" "39927880" "39927881" "del" "0" "00802" "JUP_000004" "g.39927880_39927881del" "" "{PMID:Koopmann:17556197}, ARVD/C database 7593" "" "208+18_208+19delCG" "" "Germline" "" "" "0" "" "" "g.41771628_41771629del" "" "benign" "" "0000442003" "0" "11" "17" "39925925" "39925925" "subst" "0.71088" "00802" "JUP_000005" "g.39925925A>G" "" "{PMID:Koopmann:17556197}, ARVD/C database 7512" "" "" "" "Germline" "" "rs7405731" "0" "" "" "g.41769673A>G" "" "benign" "" "0000442004" "0" "11" "17" "39925713" "39925713" "subst" "0.0438129" "00802" "JUP_000007" "g.39925713C>T" "" "{PMID:Koopmann:17556197}, ARVD/C database 7514" "" "" "" "Germline" "" "rs41283425" "0" "" "" "g.41769461C>T" "" "benign" "" "0000442005" "0" "11" "17" "39923614" "39923614" "subst" "0.752169" "00802" "JUP_000011" "g.39923614A>G" "" "{PMID:Koopmann:17556197}, ARVD/C database 7594" "" "" "" "Germline" "" "rs12942034" "0" "" "" "g.41767362A>G" "" "benign" "" "0000442006" "0" "11" "17" "39913771" "39913771" "subst" "0.00722007" "00802" "JUP_000017" "g.39913771C>T" "" "{PMID:Koopmann:17556197}, ARVD/C database 7597" "" "" "" "Germline" "" "" "0" "" "" "g.41757519C>T" "" "benign" "" "0000442007" "0" "11" "17" "39913645" "39913645" "subst" "0.697465" "00802" "JUP_000018" "g.39913645T>C" "" "{PMID:Koopmann:17556197}, ARVD/C database 7596" "" "" "" "Germline" "" "rs7216034" "0" "" "" "g.41757393T>C" "" "benign" "" "0000442008" "0" "11" "17" "39912145" "39912145" "subst" "0.647822" "00802" "JUP_000020" "g.39912145T>A" "" "{PMID:Koopmann:17556197}, ARVD/C database 7520" "" "" "" "Germline" "" "rs1126821" "0" "" "" "g.41755893T>A" "" "benign" "" "0000442009" "0" "55" "17" "39925852" "39925852" "subst" "1.77137E-5" "00802" "JUP_000022" "g.39925852C>T" "" "unpublished, ARVD/C database 7848" "" "" "" "Germline" "" "" "0" "" "" "g.41769600C>T" "" "VUS" "" "0000442010" "0" "11" "17" "39919594" "39919594" "subst" "6.99588E-5" "00802" "JUP_000023" "g.39919594G>A" "" "unpublished, ARVD/C database 7849" "" "" "" "Germline" "" "" "0" "" "" "g.41763342G>A" "" "benign" "" "0000442011" "0" "55" "17" "39919373" "39919373" "subst" "4.46918E-5" "00802" "JUP_000024" "g.39919373C>A" "" "unpublished, ARVD/C database 7850" "" "" "" "Germline" "" "" "0" "" "" "g.41763121C>A" "" "VUS" "" "0000442012" "0" "15" "17" "39915057" "39915057" "subst" "0.0067834" "00802" "JUP_000025" "g.39915057T>C" "" "unpublished, ARVD/C database 7851" "" "" "" "Germline" "" "" "0" "" "" "g.41758805T>C" "" "benign" "" "0000442013" "0" "99" "17" "39913673" "39913674" "del" "0" "00802" "JUP_000016" "g.39913673_39913674del" "" "{PMID:Lazaros:19165571}, ARVD/C database 7519" "" "2158_2159delGT" "" "Germline" "" "" "0" "" "" "g.41757421_41757422del" "" "pathogenic" "" "0000442014" "0" "95" "17" "39925453" "39925453" "subst" "3.42228E-5" "00802" "JUP_000026" "g.39925453C>A" "" "{PMID:Ly:18672408}, ARVD/C database 785" "" "" "" "Germline" "" "" "0" "" "" "g.41769201C>A" "" "pathogenic" "" "0000442015" "0" "99" "17" "39927994" "39927996" "dup" "0" "00802" "JUP_000003" "g.39927994_39927996dup" "" "{PMID:Asimaki 2009:19279339}, ARVD/C database 7511" "" "" "" "Germline" "" "" "0" "" "" "g.41771742_41771744dup" "" "pathogenic" "" "0000442016" "0" "95" "17" "39928051" "39928051" "subst" "0.000122915" "00802" "JUP_000028" "g.39928051G>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7875" "" "" "" "Germline" "" "" "0" "" "" "g.41771799G>A" "" "pathogenic" "" "0000442017" "0" "55" "17" "39925841" "39925841" "subst" "0.000668201" "00802" "JUP_000029" "g.39925841C>T" "" "unpublished, ARVD/C database 7932" "" "" "" "Germline" "" "" "0" "" "" "g.41769589C>T" "" "VUS" "" "0000442018" "0" "11" "17" "39925507" "39925507" "subst" "0.00924635" "00802" "JUP_000030" "g.39925507G>A" "" "unpublished, ARVD/C database 7933" "" "" "" "Germline" "" "" "0" "" "" "g.41769255G>A" "" "benign" "" "0000442019" "0" "11" "17" "39914957" "39914957" "subst" "0.0107746" "00802" "JUP_000031" "g.39914957G>T" "" "unpublished, ARVD/C database 7934" "" "" "" "Germline" "" "" "0" "" "" "g.41758705G>T" "" "benign" "" "0000442020" "0" "11" "17" "39914624" "39914624" "subst" "0" "00802" "JUP_000032" "g.39914624T>C" "" "unpublished, ARVD/C database 7935" "" "" "" "Germline" "" "" "0" "" "" "g.41758372T>C" "" "benign" "" "0000442021" "0" "11" "17" "39913829" "39913829" "del" "0" "00802" "JUP_000033" "g.39913829del" "" "unpublished, ARVD/C database 7936" "" "1925-40delG" "" "Germline" "" "" "0" "" "" "g.41757577del" "" "benign" "" "0000442022" "0" "11" "17" "39912480" "39912480" "subst" "0.00185818" "00802" "JUP_000034" "g.39912480G>C" "" "unpublished, ARVD/C database 7937" "" "" "" "Germline" "" "" "0" "" "" "g.41756228G>C" "" "benign" "" "0000442023" "0" "55" "17" "39912007" "39912007" "subst" "0" "00802" "JUP_000035" "g.39912007A>T" "" "unpublished, ARVD/C database 7938" "" "" "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" "" "0000442024" "0" "97" "17" "39925746" "39925746" "del" "0" "00802" "JUP_000039" "g.39925746del" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7980" "" "392_392delTCA" "" "Germline" "" "" "0" "" "" "g.41769494del" "" "pathogenic" "" "0000442025" "0" "95" "17" "39925453" "39925453" "subst" "3.42228E-5" "00802" "JUP_000026" "g.39925453C>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 785" "" "" "" "Germline" "" "" "0" "" "" "g.41769201C>A" "" "pathogenic" "" "0000442026" "0" "55" "17" "39928072" "39928072" "subst" "0" "00802" "JUP_000040" "g.39928072T>C" "" "unpublished, ARVD/C database 8135" "" "" "" "Germline" "" "" "0" "" "" "g.41771820T>C" "" "VUS" "" "0000442027" "3" "55" "17" "39928036" "39928036" "subst" "0" "00802" "JUP_000041" "g.39928036G>T" "" "unpublished, ARVD/C database 8112" "" "" "" "Germline" "" "" "0" "" "" "g.41771784G>T" "" "VUS" "" "0000442028" "0" "55" "17" "39925764" "39925764" "subst" "4.14831E-6" "00802" "JUP_000042" "g.39925764G>A" "" "unpublished, ARVD/C database 8068" "" "" "" "Germline" "" "" "0" "" "" "g.41769512G>A" "" "VUS" "" "0000442029" "0" "55" "17" "39925711" "39925711" "subst" "9.51176E-5" "00802" "JUP_000043" "g.39925711C>T" "" "unpublished, ARVD/C database 8059" "" "" "" "Germline" "" "" "0" "" "" "g.41769459C>T" "" "VUS" "" "0000442030" "0" "55" "17" "39925670" "39925670" "subst" "0" "00802" "JUP_000044" "g.39925670C>T" "" "unpublished, ARVD/C database 8113" "" "" "Predicted to ablate normal splice site" "Germline" "" "" "0" "" "" "g.41769418C>T" "" "VUS" "" "0000442031" "0" "55" "17" "39923836" "39923836" "subst" "0.000158111" "00802" "JUP_000045" "g.39923836G>C" "" "unpublished, ARVD/C database 8781" "" "" "" "Germline" "" "" "0" "" "" "g.41767584G>C" "" "VUS" "" "0000442032" "0" "55" "17" "39923836" "39923836" "subst" "0.000158111" "00802" "JUP_000045" "g.39923836G>C" "" "unpublished, ARVD/C database 8860" "" "" "" "Germline" "" "" "0" "" "" "g.41767584G>C" "" "VUS" "" "0000442033" "0" "55" "17" "39925461" "39925468" "del" "0" "00802" "JUP_000046" "g.39925461_39925468del" "" "unpublished, ARVD/C database 8138" "" "" "putative effect on splicing" "Germline" "" "" "0" "" "" "g.41769209_41769216del" "" "VUS" "" "0000442034" "0" "55" "17" "39925402" "39925402" "subst" "5.88141E-5" "00802" "JUP_000047" "g.39925402G>A" "" "unpublished, ARVD/C database 8252" "" "R176C" "" "Germline" "" "" "0" "" "" "g.41769150G>A" "" "VUS" "" "0000442035" "0" "55" "17" "39925254" "39925254" "subst" "1.70504E-5" "00802" "JUP_000048" "g.39925254G>A" "" "unpublished, ARVD/C database 8098" "" "" "" "Germline" "" "" "0" "" "" "g.41769002G>A" "" "VUS" "" "0000442036" "0" "55" "17" "39925226" "39925226" "subst" "0" "00802" "JUP_000049" "g.39925226C>A" "" "unpublished, ARVD/C database 8369" "" "" "" "Germline" "" "" "0" "" "" "g.41768974C>A" "" "VUS" "" "0000442037" "3" "55" "17" "39923746" "39923746" "subst" "8.12407E-6" "00802" "JUP_000050" "g.39923746C>T" "" "unpublished, ARVD/C database 8217" "" "" "" "Germline" "" "" "0" "" "" "g.41767494C>T" "" "VUS" "" "0000442038" "0" "55" "17" "39923649" "39923649" "subst" "4.06299E-5" "00802" "JUP_000051" "g.39923649G>A" "" "unpublished, ARVD/C database 8733" "" "" "" "Germline" "" "" "0" "" "" "g.41767397G>A" "" "VUS" "" "0000442039" "0" "55" "17" "39923638" "39923638" "subst" "1.62542E-5" "00802" "JUP_000052" "g.39923638T>C" "" "unpublished, ARVD/C database 8136" "" "" "" "Germline" "" "" "0" "" "" "g.41767386T>C" "" "VUS" "" "0000442040" "0" "55" "17" "39919513" "39919513" "subst" "2.03143E-5" "00802" "JUP_000053" "g.39919513C>T" "" "unpublished, ARVD/C database 8101" "" "" "" "Germline" "" "" "0" "" "" "g.41763261C>T" "" "VUS" "" "0000442041" "0" "55" "17" "39919452" "39919452" "subst" "4.87302E-5" "00802" "JUP_000054" "g.39919452G>A" "" "unpublished, ARVD/C database 8099" "" "" "" "Germline" "" "" "0" "" "" "g.41763200G>A" "" "VUS" "" "0000442042" "0" "55" "17" "39919436" "39919436" "subst" "2.43651E-5" "00802" "JUP_000055" "g.39919436G>A" "" "unpublished, ARVD/C database 8273" "" "" "" "Germline" "" "" "0" "" "" "g.41763184G>A" "" "VUS" "" "0000442043" "0" "55" "17" "39919324" "39919324" "subst" "4.06755E-6" "00802" "JUP_000056" "g.39919324C>T" "" "unpublished, ARVD/C database 8055" "" "" "" "Germline" "" "" "0" "" "" "g.41763072C>T" "" "VUS" "" "0000442044" "0" "55" "17" "39915149" "39915149" "subst" "2.15144E-5" "00802" "JUP_000057" "g.39915149G>C" "" "unpublished, ARVD/C database 8137" "" "" "" "Germline" "" "" "0" "" "" "g.41758897G>C" "" "VUS" "" "0000442045" "0" "55" "17" "39914710" "39914710" "subst" "1.21915E-5" "00802" "JUP_000058" "g.39914710G>A" "" "unpublished, ARVD/C database 8370" "" "" "" "Germline" "" "" "0" "" "" "g.41758458G>A" "" "VUS" "" "0000442046" "0" "55" "17" "39914594" "39914594" "subst" "0" "00802" "JUP_000059" "g.39914594C>G" "" "unpublished, ARVD/C database 8014" "" "" "" "Germline" "" "" "0" "" "" "g.41758342C>G" "" "VUS" "" "0000442047" "0" "55" "17" "39914049" "39914049" "subst" "0.00532696" "00802" "JUP_000060" "g.39914049G>A" "" "unpublished, ARVD/C database 8013" "" "" "" "Germline" "" "" "0" "" "" "g.41757797G>A" "" "VUS" "" "0000442048" "0" "55" "17" "39914003" "39914003" "subst" "0.000648969" "00802" "JUP_000061" "g.39914003C>A" "" "unpublished, ARVD/C database 8100" "" "" "" "Germline" "" "" "0" "" "" "g.41757751C>A" "" "VUS" "" "0000442049" "0" "55" "17" "39912435" "39912435" "subst" "3.66178E-5" "00802" "JUP_000062" "g.39912435T>C" "" "unpublished, ARVD/C database 8352" "" "" "" "Germline" "" "" "0" "" "" "g.41756183T>C" "" "VUS" "" "0000442050" "0" "55" "17" "39912122" "39912122" "subst" "0" "00802" "JUP_000063" "g.39912122C>T" "" "unpublished, ARVD/C database 8015" "" "" "" "Germline" "" "" "0" "" "" "g.41755870C>T" "" "VUS" "" "0000442051" "0" "55" "17" "39912056" "39912056" "subst" "0.00019194" "00802" "JUP_000064" "g.39912056G>A" "" "unpublished, ARVD/C database 8780" "" "" "" "Germline" "" "" "0" "" "" "g.41755804G>A" "" "VUS" "" "0000442052" "0" "55" "17" "39927955" "39927955" "subst" "2.03164E-5" "00802" "JUP_000027" "g.39927955C>T" "" "Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7914" "" "" "" "Germline" "" "" "0" "" "" "g.41771703C>T" "" "VUS" "" "0000561334" "0" "30" "17" "39912027" "39912027" "subst" "0.000276286" "02330" "JUP_000167" "g.39912027G>A" "" "" "" "JUP(NM_001352773.1):c.2207C>T (p.P736L), JUP(NM_002230.4):c.2207C>T (p.P736L), JUP(NM_021991.2):c.2207C>T (p.P736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41755775G>A" "" "likely benign" "" "0000561335" "0" "50" "17" "39912027" "39912027" "subst" "0.000276286" "01943" "JUP_000167" "g.39912027G>A" "" "" "" "JUP(NM_001352773.1):c.2207C>T (p.P736L), JUP(NM_002230.4):c.2207C>T (p.P736L), JUP(NM_021991.2):c.2207C>T (p.P736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41755775G>A" "" "VUS" "" "0000561336" "0" "30" "17" "39912027" "39912027" "subst" "0.000276286" "02327" "JUP_000167" "g.39912027G>A" "" "" "" "JUP(NM_001352773.1):c.2207C>T (p.P736L), JUP(NM_002230.4):c.2207C>T (p.P736L), JUP(NM_021991.2):c.2207C>T (p.P736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41755775G>A" "" "likely benign" "" "0000561337" "0" "30" "17" "39912112" "39912112" "subst" "3.28033E-5" "01943" "JUP_000168" "g.39912112C>T" "" "" "" "JUP(NM_002230.2):c.2122G>A (p.D708N), JUP(NM_021991.2):c.2122G>A (p.D708N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41755860C>T" "" "likely benign" "" "0000561338" "0" "10" "17" "39912145" "39912145" "subst" "0.647822" "02327" "JUP_000020" "g.39912145T>A" "" "" "" "JUP(NM_002230.2):c.2089A>T (p.M697L), JUP(NM_002230.4):c.2089A>T (p.M697L), JUP(NM_021991.2):c.2089A>T (p.M697L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41755893T>A" "" "benign" "" "0000561339" "0" "10" "17" "39912444" "39912444" "subst" "9.76094E-5" "02330" "JUP_000073" "g.39912444T>C" "" "" "" "JUP(NM_001352773.2):c.2069A>G (p.N690S), JUP(NM_002230.2):c.2069A>G (p.N690S), JUP(NM_002230.4):c.2069A>G (p.N690S), JUP(NM_021991.2):c.2069A>G (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41756192T>C" "" "benign" "" "0000561340" "0" "30" "17" "39912444" "39912444" "subst" "9.76094E-5" "01943" "JUP_000073" "g.39912444T>C" "" "" "" "JUP(NM_001352773.2):c.2069A>G (p.N690S), JUP(NM_002230.2):c.2069A>G (p.N690S), JUP(NM_002230.4):c.2069A>G (p.N690S), JUP(NM_021991.2):c.2069A>G (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41756192T>C" "" "likely benign" "" "0000561342" "0" "50" "17" "39912444" "39912444" "subst" "9.76094E-5" "02325" "JUP_000073" "g.39912444T>C" "" "" "" "JUP(NM_001352773.2):c.2069A>G (p.N690S), JUP(NM_002230.2):c.2069A>G (p.N690S), JUP(NM_002230.4):c.2069A>G (p.N690S), JUP(NM_021991.2):c.2069A>G (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41756192T>C" "" "VUS" "" "0000561343" "0" "30" "17" "39912444" "39912444" "subst" "9.76094E-5" "02326" "JUP_000073" "g.39912444T>C" "" "" "" "JUP(NM_001352773.2):c.2069A>G (p.N690S), JUP(NM_002230.2):c.2069A>G (p.N690S), JUP(NM_002230.4):c.2069A>G (p.N690S), JUP(NM_021991.2):c.2069A>G (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41756192T>C" "" "likely benign" "" "0000561344" "0" "10" "17" "39913645" "39913645" "subst" "0.697465" "02327" "JUP_000018" "g.39913645T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757393T>C" "" "benign" "" "0000561345" "0" "50" "17" "39913666" "39913667" "del" "0" "01943" "JUP_000169" "g.39913666_39913667del" "" "" "" "JUP(NM_002230.2):c.2046+2_2046+3delTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757414_41757415del" "" "VUS" "" "0000561346" "0" "30" "17" "39913688" "39913688" "subst" "0.000576598" "01943" "JUP_000088" "g.39913688A>G" "" "" "" "JUP(NM_002230.2):c.2025T>C (p.H675=), JUP(NM_002230.4):c.2025T>C (p.H675=), JUP(NM_021991.2):c.2025T>C (p.H675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757436A>G" "" "likely benign" "" "0000561347" "0" "10" "17" "39913689" "39913689" "subst" "8.1211E-6" "02330" "JUP_000089" "g.39913689T>C" "" "" "" "JUP(NM_002230.4):c.2024A>G (p.H675R), JUP(NM_021991.2):c.2024A>G (p.H675R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757437T>C" "" "benign" "" "0000561348" "0" "50" "17" "39913689" "39913689" "subst" "8.1211E-6" "02327" "JUP_000089" "g.39913689T>C" "" "" "" "JUP(NM_002230.4):c.2024A>G (p.H675R), JUP(NM_021991.2):c.2024A>G (p.H675R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757437T>C" "" "VUS" "" "0000561349" "0" "30" "17" "39913689" "39913689" "subst" "8.1211E-6" "02326" "JUP_000089" "g.39913689T>C" "" "" "" "JUP(NM_002230.4):c.2024A>G (p.H675R), JUP(NM_021991.2):c.2024A>G (p.H675R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757437T>C" "" "likely benign" "" "0000561350" "0" "50" "17" "39913692" "39913692" "subst" "0" "02330" "JUP_000090" "g.39913692T>C" "" "" "" "JUP(NM_002230.2):c.2021A>G (p.K674R), JUP(NM_002230.4):c.2021A>G (p.K674R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757440T>C" "" "VUS" "" "0000561351" "0" "30" "17" "39913718" "39913718" "subst" "3.6545E-5" "01943" "JUP_000170" "g.39913718G>A" "" "" "" "JUP(NM_002230.2):c.1995C>T (p.S665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757466G>A" "" "likely benign" "" "0000561352" "0" "50" "17" "39913731" "39913731" "subst" "0.00013806" "02327" "JUP_000171" "g.39913731C>T" "" "" "" "JUP(NM_002230.4):c.1982G>A (p.R661Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757479C>T" "" "VUS" "" "0000561353" "0" "30" "17" "39913732" "39913732" "subst" "5.27872E-5" "02327" "JUP_000172" "g.39913732G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757480G>A" "" "likely benign" "" "0000561354" "0" "30" "17" "39913754" "39913754" "subst" "6.90294E-5" "02327" "JUP_000173" "g.39913754G>A" "" "" "" "JUP(NM_001352773.2):c.1959C>T (p.S653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757502G>A" "" "likely benign" "" "0000561355" "0" "10" "17" "39913807" "39913807" "subst" "0.000300534" "02330" "JUP_000096" "g.39913807A>C" "" "" "" "JUP(NM_002230.4):c.1925-19T>G, JUP(NM_021991.2):c.1925-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757555A>C" "" "benign" "" "0000561356" "0" "30" "17" "39913807" "39913807" "subst" "0.000300534" "02327" "JUP_000096" "g.39913807A>C" "" "" "" "JUP(NM_002230.4):c.1925-19T>G, JUP(NM_021991.2):c.1925-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757555A>C" "" "likely benign" "" "0000561357" "0" "30" "17" "39913900" "39913900" "subst" "7.81186E-5" "02327" "JUP_000097" "g.39913900C>T" "" "" "" "JUP(NM_002230.4):c.1910G>A (p.R637H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757648C>T" "" "likely benign" "" "0000561358" "0" "50" "17" "39913901" "39913901" "subst" "3.69898E-5" "02325" "JUP_000098" "g.39913901G>A" "" "" "" "JUP(NM_002230.4):c.1909C>T (p.R637C), JUP(NM_021991.2):c.1909C>T (p.R637C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757649G>A" "" "VUS" "" "0000561359" "0" "10" "17" "39914003" "39914003" "subst" "0.000648969" "02330" "JUP_000061" "g.39914003C>A" "" "" "" "JUP(NM_002230.4):c.1807G>T (p.V603L), JUP(NM_021991.2):c.1807G>T (p.V603L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757751C>A" "" "benign" "" "0000561360" "0" "50" "17" "39914003" "39914003" "subst" "0.000648969" "01943" "JUP_000061" "g.39914003C>A" "" "" "" "JUP(NM_002230.4):c.1807G>T (p.V603L), JUP(NM_021991.2):c.1807G>T (p.V603L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757751C>A" "" "VUS" "" "0000561362" "0" "10" "17" "39914044" "39914044" "subst" "1.29558E-5" "02330" "JUP_000174" "g.39914044G>A" "" "" "" "JUP(NM_002230.4):c.1774-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757792G>A" "" "benign" "" "0000561363" "0" "10" "17" "39914049" "39914049" "subst" "0.00532696" "02327" "JUP_000060" "g.39914049G>A" "" "" "" "JUP(NM_002230.4):c.1774-13C>T, JUP(NM_021991.2):c.1774-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757797G>A" "" "benign" "" "0000561364" "0" "10" "17" "39914070" "39914070" "subst" "0.665439" "02327" "JUP_000015" "g.39914070G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757818G>T" "" "benign" "" "0000561366" "0" "30" "17" "39914711" "39914711" "subst" "3.25063E-5" "02326" "JUP_000175" "g.39914711G>C" "" "" "" "JUP(NM_021991.2):c.1713C>G (p.A571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758459G>C" "" "likely benign" "" "0000561367" "0" "30" "17" "39914747" "39914747" "subst" "0" "01943" "JUP_000107" "g.39914747A>G" "" "" "" "JUP(NM_002230.2):c.1677T>C (p.I559=), JUP(NM_002230.4):c.1677T>C (p.I559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758495A>G" "" "likely benign" "" "0000561368" "0" "30" "17" "39914787" "39914787" "del" "0" "02327" "JUP_000176" "g.39914787del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758535del" "" "likely benign" "" "0000561369" "0" "10" "17" "39914949" "39914949" "subst" "4.60507E-6" "02330" "JUP_000177" "g.39914949C>T" "" "" "" "JUP(NM_002230.4):c.1653+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758697C>T" "" "benign" "" "0000561370" "0" "30" "17" "39914957" "39914957" "subst" "0.0107746" "02327" "JUP_000031" "g.39914957G>T" "" "" "" "JUP(NM_002230.2):c.1653+10C>A, JUP(NM_002230.4):c.1653+10C>A, JUP(NM_021991.2):c.1653+10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758705G>T" "" "likely benign" "" "0000561371" "0" "50" "17" "39915038" "39915038" "subst" "6.67791E-5" "02330" "JUP_000178" "g.39915038C>T" "" "" "" "JUP(NM_002230.4):c.1582G>A (p.V528I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758786C>T" "" "VUS" "" "0000561372" "0" "30" "17" "39915038" "39915038" "subst" "6.67791E-5" "02325" "JUP_000178" "g.39915038C>T" "" "" "" "JUP(NM_002230.4):c.1582G>A (p.V528I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758786C>T" "" "likely benign" "" "0000561373" "0" "10" "17" "39915057" "39915057" "subst" "0.0067834" "02327" "JUP_000025" "g.39915057T>C" "" "" "" "JUP(NM_002230.2):c.1563A>G (p.A521=), JUP(NM_002230.4):c.1563A>G (p.A521=), JUP(NM_021991.2):c.1563A>G (p.A521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758805T>C" "" "benign" "" "0000561374" "0" "30" "17" "39915069" "39915069" "subst" "1.66038E-5" "02327" "JUP_000179" "g.39915069C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758817C>T" "" "likely benign" "" "0000561375" "0" "10" "17" "39919355" "39919355" "subst" "0.000130034" "02330" "JUP_000116" "g.39919355C>A" "" "" "" "JUP(NM_002230.4):c.1377G>T (p.L459=), JUP(NM_021991.2):c.1377G>T (p.L459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763103C>A" "" "benign" "" "0000561376" "0" "10" "17" "39919355" "39919355" "subst" "0.000130034" "02326" "JUP_000116" "g.39919355C>A" "" "" "" "JUP(NM_002230.4):c.1377G>T (p.L459=), JUP(NM_021991.2):c.1377G>T (p.L459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763103C>A" "" "benign" "" "0000561377" "0" "30" "17" "39919361" "39919361" "subst" "9.34572E-5" "02327" "JUP_000180" "g.39919361G>A" "" "" "" "JUP(NM_001352773.2):c.1371C>T (p.C457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763109G>A" "" "likely benign" "" "0000561378" "0" "30" "17" "39919366" "39919366" "subst" "0.000268171" "02327" "JUP_000117" "g.39919366C>T" "" "" "" "JUP(NM_002230.2):c.1366G>A (p.V456I), JUP(NM_002230.4):c.1366G>A (p.V456I), JUP(NM_021991.2):c.1366G>A (p.V456I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763114C>T" "" "likely benign" "" "0000561379" "0" "50" "17" "39919372" "39919372" "subst" "1.21879E-5" "02327" "JUP_000181" "g.39919372G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763120G>A" "" "VUS" "" "0000561381" "0" "50" "17" "39919424" "39919424" "subst" "4.06095E-6" "02330" "JUP_000182" "g.39919424C>A" "" "" "" "JUP(NM_002230.4):c.1308G>T (p.E436D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763172C>A" "" "VUS" "" "0000561382" "0" "10" "17" "39919508" "39919508" "subst" "0.00135276" "02327" "JUP_000014" "g.39919508G>A" "" "" "" "JUP(NM_002230.4):c.1224C>T (p.L408=), JUP(NM_021991.2):c.1224C>T (p.L408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763256G>A" "" "benign" "" "0000561383" "0" "50" "17" "39919513" "39919513" "subst" "2.03143E-5" "02327" "JUP_000053" "g.39919513C>T" "" "" "" "JUP(NM_001352773.2):c.1219G>A (p.V407I), JUP(NM_021991.2):c.1219G>A (p.V407I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763261C>T" "" "VUS" "" "0000561384" "0" "30" "17" "39919593" "39919593" "subst" "4.51705E-5" "02327" "JUP_000124" "g.39919593C>T" "" "" "" "JUP(NM_002230.4):c.1159-20G>A, JUP(NM_021991.2):c.1159-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763341C>T" "" "likely benign" "" "0000561385" "0" "10" "17" "39921037" "39921037" "subst" "2.03155E-5" "02330" "JUP_000183" "g.39921037G>A" "" "" "" "JUP(NM_002230.4):c.1086C>T (p.T362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41764785G>A" "" "benign" "" "0000561386" "0" "50" "17" "39921279" "39921279" "subst" "4.06121E-5" "01943" "JUP_000184" "g.39921279T>G" "" "" "" "JUP(NM_001352773.2):c.950A>C (p.Q317P), JUP(NM_021991.2):c.950A>C (p.Q317P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41765027T>G" "" "VUS" "" "0000561387" "0" "50" "17" "39921283" "39921283" "subst" "1.21843E-5" "02327" "JUP_000185" "g.39921283C>T" "" "" "" "JUP(NM_001352773.2):c.946G>A (p.V316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41765031C>T" "" "VUS" "" "0000561388" "0" "10" "17" "39923614" "39923614" "subst" "0.752169" "02327" "JUP_000011" "g.39923614A>G" "" "" "" "JUP(NM_002230.2):c.909+17T>C, JUP(NM_002230.4):c.909+17T>C, JUP(NM_021991.2):c.909+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767362A>G" "" "benign" "" "0000561389" "0" "10" "17" "39923625" "39923625" "subst" "0.00208693" "02327" "JUP_000070" "g.39923625G>A" "" "" "" "JUP(NM_002230.2):c.909+6C>T (p.?), JUP(NM_002230.4):c.909+6C>T, JUP(NM_021991.2):c.909+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767373G>A" "" "benign" "" "0000561390" "0" "30" "17" "39923673" "39923673" "subst" "0.00359867" "02327" "JUP_000010" "g.39923673G>A" "" "" "" "JUP(NM_002230.4):c.867C>T (p.T289=), JUP(NM_021991.2):c.867C>T (p.T289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767421G>A" "" "likely benign" "" "0000561391" "0" "30" "17" "39923733" "39923733" "subst" "8.12354E-6" "02327" "JUP_000134" "g.39923733C>A" "" "" "" "JUP(NM_001352773.2):c.807G>T (p.G269=), JUP(NM_021991.2):c.807G>T (p.G269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767481C>A" "" "likely benign" "" "0000561392" "0" "10" "17" "39923739" "39923739" "subst" "0.00020715" "02330" "JUP_000186" "g.39923739G>A" "" "" "" "JUP(NM_002230.4):c.801C>T (p.A267=), JUP(NM_021991.2):c.801C>T (p.A267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767487G>A" "" "benign" "" "0000561393" "0" "10" "17" "39923763" "39923763" "subst" "0.00113767" "02330" "JUP_000009" "g.39923763G>A" "" "" "" "JUP(NM_002230.4):c.777C>T (p.G259=), JUP(NM_021991.2):c.777C>T (p.G259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767511G>A" "" "benign" "" "0000561394" "0" "10" "17" "39923763" "39923763" "subst" "0.00113767" "01943" "JUP_000009" "g.39923763G>A" "" "" "" "JUP(NM_002230.4):c.777C>T (p.G259=), JUP(NM_021991.2):c.777C>T (p.G259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767511G>A" "" "benign" "" "0000561395" "0" "50" "17" "39923792" "39923792" "subst" "5.28894E-5" "02327" "JUP_000187" "g.39923792G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767540G>A" "" "VUS" "" "0000561396" "0" "50" "17" "39923794" "39923794" "subst" "1.22074E-5" "02327" "JUP_000136" "g.39923794G>A" "" "" "" "JUP(NM_002230.2):c.746C>T (p.T249M), JUP(NM_002230.4):c.746C>T (p.T249M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767542G>A" "" "VUS" "" "0000561399" "0" "30" "17" "39925234" "39925234" "subst" "8.69989E-5" "02325" "JUP_000189" "g.39925234C>T" "" "" "" "JUP(NM_002230.4):c.694G>A (p.V232I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41768982C>T" "" "likely benign" "" "0000561400" "0" "50" "17" "39925254" "39925254" "subst" "1.70504E-5" "02327" "JUP_000048" "g.39925254G>A" "" "" "" "JUP(NM_001352773.2):c.674C>T (p.S225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769002G>A" "" "VUS" "" "0000561401" "0" "50" "17" "39925281" "39925281" "subst" "0" "02326" "JUP_000190" "g.39925281C>T" "" "" "" "JUP(NM_021991.2):c.647G>A (p.R216Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769029C>T" "" "VUS" "" "0000561402" "0" "50" "17" "39925295" "39925295" "subst" "8.26774E-6" "02326" "JUP_000191" "g.39925295G>T" "" "" "" "JUP(NM_021991.2):c.633C>A (p.N211K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769043G>T" "" "VUS" "" "0000561403" "0" "50" "17" "39925300" "39925300" "subst" "0" "02325" "JUP_000192" "g.39925300G>A" "" "" "" "JUP(NM_001352773.2):c.628C>T (p.H210Y), JUP(NM_002230.2):c.628C>T (p.H210Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769048G>A" "" "VUS" "" "0000561404" "0" "10" "17" "39925382" "39925382" "subst" "0.000168644" "02330" "JUP_000193" "g.39925382C>T" "" "" "" "JUP(NM_002230.2):c.546G>A (p.S182=), JUP(NM_002230.4):c.546G>A (p.S182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769130C>T" "" "benign" "" "0000561405" "0" "30" "17" "39925382" "39925382" "subst" "0.000168644" "01943" "JUP_000193" "g.39925382C>T" "" "" "" "JUP(NM_002230.2):c.546G>A (p.S182=), JUP(NM_002230.4):c.546G>A (p.S182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769130C>T" "" "likely benign" "" "0000561406" "0" "30" "17" "39925382" "39925382" "subst" "0.000168644" "02325" "JUP_000193" "g.39925382C>T" "" "" "" "JUP(NM_002230.2):c.546G>A (p.S182=), JUP(NM_002230.4):c.546G>A (p.S182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769130C>T" "" "likely benign" "" "0000561407" "0" "30" "17" "39925383" "39925383" "subst" "1.67801E-5" "01943" "JUP_000194" "g.39925383G>A" "" "" "" "JUP(NM_002230.2):c.545C>T (p.S182L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769131G>A" "" "likely benign" "" "0000561408" "0" "10" "17" "39925398" "39925398" "subst" "2.5216E-5" "02330" "JUP_000195" "g.39925398C>T" "" "" "" "JUP(NM_001352773.2):c.530G>A (p.R177Q), JUP(NM_002230.4):c.530G>A (p.R177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769146C>T" "" "benign" "" "0000561409" "0" "50" "17" "39925407" "39925407" "subst" "2.10111E-5" "02327" "JUP_000196" "g.39925407G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769155G>A" "" "VUS" "" "0000561410" "0" "30" "17" "39925418" "39925418" "subst" "0.000190178" "02325" "JUP_000197" "g.39925418C>T" "" "" "" "JUP(NM_002230.4):c.510G>A (p.S170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769166C>T" "" "likely benign" "" "0000561411" "0" "50" "17" "39925453" "39925453" "subst" "3.42228E-5" "01943" "JUP_000026" "g.39925453C>A" "" "" "" "JUP(NM_002230.2):c.475G>T (p.V159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769201C>A" "" "VUS" "" "0000561412" "0" "30" "17" "39925663" "39925663" "subst" "0" "02327" "JUP_000198" "g.39925663C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769411C>T" "" "likely benign" "" "0000561413" "0" "50" "17" "39925678" "39925678" "subst" "3.34829E-5" "02325" "JUP_000149" "g.39925678C>T" "" "" "" "JUP(NM_001352773.2):c.460G>A (p.E154K), JUP(NM_002230.4):c.460G>A (p.E154K), JUP(NM_021991.2):c.460G>A (p.E154K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769426C>T" "" "VUS" "" "0000561414" "0" "30" "17" "39925679" "39925679" "subst" "4.59371E-5" "02327" "JUP_000150" "g.39925679G>A" "" "" "" "JUP(NM_002230.4):c.459C>T (p.D153=), JUP(NM_021991.2):c.459C>T (p.D153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769427G>A" "" "likely benign" "" "0000561415" "0" "30" "17" "39925712" "39925712" "subst" "0.000152864" "02327" "JUP_000151" "g.39925712G>A" "" "" "" "JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769460G>A" "" "likely benign" "" "0000561416" "0" "30" "17" "39925713" "39925713" "subst" "0.0438129" "01804" "JUP_000007" "g.39925713C>T" "" "" "" "JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769461C>T" "" "likely benign" "" "0000561417" "0" "10" "17" "39925713" "39925713" "subst" "0.0438129" "02327" "JUP_000007" "g.39925713C>T" "" "" "" "JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769461C>T" "" "benign" "" "0000561418" "0" "10" "17" "39925733" "39925733" "subst" "0.00798217" "02330" "JUP_000006" "g.39925733G>A" "" "" "" "JUP(NM_002230.4):c.405C>T (p.D135=), JUP(NM_021991.2):c.405C>T (p.D135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769481G>A" "" "benign" "" "0000561419" "0" "10" "17" "39925733" "39925733" "subst" "0.00798217" "02327" "JUP_000006" "g.39925733G>A" "" "" "" "JUP(NM_002230.4):c.405C>T (p.D135=), JUP(NM_021991.2):c.405C>T (p.D135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769481G>A" "" "benign" "" "0000561420" "0" "10" "17" "39925733" "39925733" "subst" "0.00798217" "02326" "JUP_000006" "g.39925733G>A" "" "" "" "JUP(NM_002230.4):c.405C>T (p.D135=), JUP(NM_021991.2):c.405C>T (p.D135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769481G>A" "" "benign" "" "0000561421" "0" "50" "17" "39925742" "39925742" "subst" "0" "02327" "JUP_000199" "g.39925742G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769490G>A" "" "VUS" "" "0000561422" "0" "30" "17" "39925803" "39925803" "subst" "6.94137E-5" "02326" "JUP_000155" "g.39925803T>C" "" "" "" "JUP(NM_002230.4):c.335A>G (p.N112S), JUP(NM_021991.2):c.335A>G (p.N112S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769551T>C" "" "likely benign" "" "0000561423" "0" "30" "17" "39925826" "39925826" "subst" "0" "01943" "JUP_000200" "g.39925826G>C" "" "" "" "JUP(NM_002230.2):c.312C>G (p.T104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769574G>C" "" "likely benign" "" "0000561424" "0" "30" "17" "39925826" "39925826" "subst" "0" "02327" "JUP_000200" "g.39925826G>C" "" "" "" "JUP(NM_002230.2):c.312C>G (p.T104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769574G>C" "" "likely benign" "" "0000561425" "0" "10" "17" "39925841" "39925841" "subst" "0.000668201" "02330" "JUP_000029" "g.39925841C>T" "" "" "" "JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769589C>T" "" "benign" "" "0000561426" "0" "30" "17" "39925841" "39925841" "subst" "0.000668201" "01943" "JUP_000029" "g.39925841C>T" "" "" "" "JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769589C>T" "" "likely benign" "" "0000561427" "0" "30" "17" "39925841" "39925841" "subst" "0.000668201" "02327" "JUP_000029" "g.39925841C>T" "" "" "" "JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769589C>T" "" "likely benign" "" "0000561428" "0" "30" "17" "39925841" "39925841" "subst" "0.000668201" "02325" "JUP_000029" "g.39925841C>T" "" "" "" "JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769589C>T" "" "likely benign" "" "0000561429" "0" "30" "17" "39925841" "39925841" "subst" "0.000668201" "02326" "JUP_000029" "g.39925841C>T" "" "" "" "JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769589C>T" "" "likely benign" "" "0000561430" "0" "50" "17" "39925842" "39925842" "subst" "2.64889E-5" "02330" "JUP_000201" "g.39925842G>A" "" "" "" "JUP(NM_002230.4):c.296C>T (p.S99L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769590G>A" "" "VUS" "" "0000561431" "0" "30" "17" "39925847" "39925847" "subst" "0" "02327" "JUP_000202" "g.39925847G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769595G>A" "" "likely benign" "" "0000561432" "0" "50" "17" "39925887" "39925887" "subst" "1.74215E-5" "02325" "JUP_000203" "g.39925887C>T" "" "" "" "JUP(NM_001352773.2):c.251G>A (p.R84Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769635C>T" "" "VUS" "" "0000561433" "0" "10" "17" "39925925" "39925925" "subst" "0.71088" "02327" "JUP_000005" "g.39925925A>G" "" "" "" "JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769673A>G" "" "benign" "" "0000561434" "0" "50" "17" "39925936" "39925936" "del" "0" "02330" "JUP_000204" "g.39925936del" "" "" "" "JUP(NM_001352773.1):c.209-3delC, JUP(NM_002230.4):c.209-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769684del" "" "VUS" "" "0000561435" "0" "30" "17" "39925936" "39925936" "del" "0" "02325" "JUP_000204" "g.39925936del" "" "" "" "JUP(NM_001352773.1):c.209-3delC, JUP(NM_002230.4):c.209-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769684del" "" "likely benign" "" "0000561436" "0" "30" "17" "39927948" "39927948" "subst" "4.87591E-5" "01943" "JUP_000205" "g.39927948G>A" "" "" "" "JUP(NM_002230.2):c.159C>T (p.Y53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41771696G>A" "" "likely benign" "" "0000561437" "0" "50" "17" "39927994" "39927996" "dup" "0" "02330" "JUP_000206" "g.39927994_39927996dup" "" "" "" "JUP(NM_002230.2):c.116_118dupGCA (p.S39dup), JUP(NM_002230.4):c.116_118dupGCA (p.S39dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41771742_41771744dup" "" "VUS" "" "0000561438" "0" "50" "17" "39928051" "39928051" "subst" "0.000122915" "02327" "JUP_000028" "g.39928051G>A" "" "" "" "JUP(NM_002230.4):c.56C>T (p.T19I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41771799G>A" "" "VUS" "" "0000616513" "0" "30" "17" "39911975" "39911975" "subst" "0.00292493" "02327" "JUP_000021" "g.39911975G>T" "" "" "" "JUP(NM_001352774.2):c.*14+7C>A, JUP(NM_021991.2):c.*14+7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41755723G>T" "" "likely benign" "" "0000616514" "0" "10" "17" "39912071" "39912071" "subst" "0" "02330" "JUP_000207" "g.39912071A>G" "" "" "" "JUP(NM_002230.4):c.2163T>C (p.D721=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41755819A>G" "" "benign" "" "0000616515" "0" "30" "17" "39912454" "39912454" "subst" "0.000235935" "01943" "JUP_000085" "g.39912454T>C" "" "" "" "JUP(NM_002230.4):c.2059A>G (p.I687V), JUP(NM_021991.2):c.2059A>G (p.I687V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41756202T>C" "" "likely benign" "" "0000616516" "0" "30" "17" "39913682" "39913682" "subst" "0.000227393" "02327" "JUP_000087" "g.39913682C>T" "" "" "" "JUP(NM_002230.4):c.2031G>A (p.P677=), JUP(NM_021991.2):c.2031G>A (p.P677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757430C>T" "" "likely benign" "" "0000616517" "0" "50" "17" "39913725" "39913725" "subst" "0" "02327" "JUP_000209" "g.39913725C>T" "" "" "" "JUP(NM_002230.2):c.1988G>A (p.R663H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757473C>T" "" "VUS" "" "0000616518" "0" "30" "17" "39913771" "39913771" "subst" "0.00722007" "01804" "JUP_000017" "g.39913771C>T" "" "" "" "JUP(NM_002230.2):c.1942G>A (p.V648I, p.(Val648Ile)), JUP(NM_002230.4):c.1942G>A (p.V648I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757519C>T" "" "likely benign" "" "0000616519" "0" "10" "17" "39913771" "39913771" "subst" "0.00722007" "02327" "JUP_000017" "g.39913771C>T" "" "" "" "JUP(NM_002230.2):c.1942G>A (p.V648I, p.(Val648Ile)), JUP(NM_002230.4):c.1942G>A (p.V648I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757519C>T" "" "benign" "" "0000616521" "0" "50" "17" "39914020" "39914020" "subst" "0" "02327" "JUP_000210" "g.39914020A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757768A>C" "" "VUS" "" "0000616522" "0" "50" "17" "39914757" "39914757" "subst" "8.15335E-6" "02327" "JUP_000212" "g.39914757A>G" "" "" "" "JUP(NM_001352773.1):c.1667T>C (p.M556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758505A>G" "" "VUS" "" "0000616523" "0" "30" "17" "39914758" "39914758" "subst" "0" "02327" "JUP_000108" "g.39914758T>C" "" "" "" "JUP(NM_002230.4):c.1666A>G (p.M556V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758506T>C" "" "likely benign" "" "0000616524" "0" "30" "17" "39914969" "39914969" "subst" "0" "02327" "JUP_000213" "g.39914969T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758717T>G" "" "likely benign" "" "0000616525" "0" "30" "17" "39914996" "39914996" "subst" "1.31334E-5" "02327" "JUP_000214" "g.39914996C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758744C>T" "" "likely benign" "" "0000616526" "0" "50" "17" "39919297" "39919297" "subst" "0" "02327" "JUP_000216" "g.39919297T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763045T>A" "" "VUS" "" "0000616527" "0" "10" "17" "39919367" "39919367" "subst" "0.000361603" "02330" "JUP_000217" "g.39919367G>A" "" "" "" "JUP(NM_001352773.2):c.1365C>T (p.A455=), JUP(NM_021991.2):c.1365C>T (p.A455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763115G>A" "" "benign" "" "0000616528" "0" "50" "17" "39919513" "39919513" "subst" "2.03143E-5" "02325" "JUP_000053" "g.39919513C>T" "" "" "" "JUP(NM_001352773.2):c.1219G>A (p.V407I), JUP(NM_021991.2):c.1219G>A (p.V407I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763261C>T" "" "VUS" "" "0000616529" "0" "30" "17" "39919562" "39919562" "subst" "0.000191724" "01943" "JUP_000218" "g.39919562C>A" "" "" "" "JUP(NM_021991.2):c.1170G>T (p.E390D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763310C>A" "" "likely benign" "" "0000616530" "0" "50" "17" "39921011" "39921011" "subst" "0" "02327" "JUP_000219" "g.39921011T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41764759T>G" "" "VUS" "" "0000616531" "0" "30" "17" "39921027" "39921027" "subst" "1.21877E-5" "01943" "JUP_000220" "g.39921027G>T" "" "" "" "JUP(NM_001352773.2):c.1096C>A (p.P366T), JUP(NM_021991.2):c.1096C>A (p.P366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41764775G>T" "" "likely benign" "" "0000616532" "0" "30" "17" "39921168" "39921168" "subst" "9.34701E-5" "01943" "JUP_000126" "g.39921168T>A" "" "" "" "JUP(NM_002230.4):c.1054+7A>T, JUP(NM_021991.2):c.1054+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41764916T>A" "" "likely benign" "" "0000616533" "0" "30" "17" "39921201" "39921201" "subst" "0" "01943" "JUP_000221" "g.39921201C>T" "" "" "" "JUP(NM_021991.2):c.1028G>A (p.S343N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41764949C>T" "" "likely benign" "" "0000616534" "0" "30" "17" "39923648" "39923648" "subst" "0.000146268" "02327" "JUP_000222" "g.39923648C>T" "" "" "" "JUP(NM_001352773.2):c.892G>A (p.G298S), JUP(NM_002230.4):c.892G>A (p.G298S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767396C>T" "" "likely benign" "" "0000616535" "0" "50" "17" "39923731" "39923731" "subst" "0" "02327" "JUP_000166" "g.39923731A>C" "" "" "" "JUP(NM_002230.2):c.809T>G (p.L270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767479A>C" "" "VUS" "" "0000616536" "0" "30" "17" "39923751" "39923751" "subst" "5.28129E-5" "02326" "JUP_000223" "g.39923751G>A" "" "" "" "JUP(NM_021991.2):c.789C>T (p.A263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767499G>A" "" "likely benign" "" "0000616537" "0" "10" "17" "39923763" "39923763" "subst" "0.00113767" "02327" "JUP_000009" "g.39923763G>A" "" "" "" "JUP(NM_002230.4):c.777C>T (p.G259=), JUP(NM_021991.2):c.777C>T (p.G259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767511G>A" "" "benign" "" "0000616538" "0" "50" "17" "39925248" "39925248" "subst" "0" "02326" "JUP_000224" "g.39925248C>T" "" "" "" "JUP(NM_001352773.2):c.680G>A (p.G227D), JUP(NM_021991.2):c.680G>A (p.G227D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41768996C>T" "" "VUS" "" "0000616539" "0" "50" "17" "39925295" "39925295" "subst" "8.26774E-6" "02327" "JUP_000191" "g.39925295G>T" "" "" "" "JUP(NM_021991.2):c.633C>A (p.N211K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769043G>T" "" "VUS" "" "0000616540" "0" "50" "17" "39925402" "39925402" "subst" "5.88141E-5" "02325" "JUP_000047" "g.39925402G>A" "" "" "" "JUP(NM_001352773.2):c.526C>T (p.R176W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769150G>A" "" "VUS" "" "0000623667" "0" "50" "17" "39913683" "39913683" "subst" "2.43635E-5" "02325" "JUP_000208" "g.39913683G>A" "" "" "" "JUP(NM_002230.4):c.2030C>T (p.P677L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757431G>A" "" "VUS" "" "0000623668" "0" "10" "17" "39913688" "39913688" "subst" "0.000576598" "02326" "JUP_000088" "g.39913688A>G" "" "" "" "JUP(NM_002230.2):c.2025T>C (p.H675=), JUP(NM_002230.4):c.2025T>C (p.H675=), JUP(NM_021991.2):c.2025T>C (p.H675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41757436A>G" "" "benign" "" "0000623669" "0" "50" "17" "39914695" "39914695" "subst" "3.65646E-5" "02326" "JUP_000211" "g.39914695G>A" "" "" "" "JUP(NM_001352773.2):c.1729C>T (p.R577C), JUP(NM_021991.2):c.1729C>T (p.R577C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758443G>A" "" "VUS" "" "0000623670" "0" "50" "17" "39915070" "39915070" "subst" "2.06961E-5" "02325" "JUP_000215" "g.39915070G>A" "" "" "" "JUP(NM_001352773.2):c.1550C>T (p.P517L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758818G>A" "" "VUS" "" "0000623671" "0" "30" "17" "39923733" "39923733" "subst" "8.12354E-6" "02325" "JUP_000134" "g.39923733C>A" "" "" "" "JUP(NM_001352773.2):c.807G>T (p.G269=), JUP(NM_021991.2):c.807G>T (p.G269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767481C>A" "" "likely benign" "" "0000623672" "0" "30" "17" "39925367" "39925367" "subst" "4.5482E-5" "02326" "JUP_000225" "g.39925367G>A" "" "" "" "JUP(NM_021991.2):c.561C>T (p.A187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769115G>A" "" "likely benign" "" "0000623673" "0" "50" "17" "39925398" "39925398" "subst" "2.5216E-5" "02325" "JUP_000195" "g.39925398C>T" "" "" "" "JUP(NM_001352773.2):c.530G>A (p.R177Q), JUP(NM_002230.4):c.530G>A (p.R177Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769146C>T" "" "VUS" "" "0000649560" "1" "30" "17" "39914003" "39914003" "subst" "0.000648969" "03575" "JUP_000061" "g.39914003C>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs200327969}" "Germline" "" "rs200327969" "0" "" "" "g.41757751C>A" "" "likely benign" "" "0000649561" "1" "50" "17" "39921271" "39921271" "subst" "0.000150273" "03575" "JUP_000227" "g.39921271G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200740462}" "Germline" "" "rs200740462" "0" "" "" "g.41765019G>A" "" "VUS" "" "0000649562" "1" "10" "17" "39925401" "39925401" "subst" "0.00155895" "03575" "JUP_000228" "g.39925401C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs144171604}" "Germline" "" "rs144171604" "0" "" "" "g.41769149C>T" "" "benign" "" "0000649563" "1" "30" "17" "39925713" "39925713" "subst" "0.0438129" "03575" "JUP_000007" "g.39925713C>T" "199/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "199 heterozygous; {DB:CLININrs41283425}" "Germline" "" "rs41283425" "0" "" "" "g.41769461C>T" "" "likely benign" "" "0000658103" "0" "50" "17" "39914694" "39914694" "subst" "8.12546E-6" "02325" "JUP_000105" "g.39914694C>T" "" "" "" "JUP(NM_001352773.2):c.1730G>A (p.R577H), JUP(NM_002230.2):c.1730G>A (p.R577H), JUP(NM_002230.4):c.1730G>A (p.R577H), JUP(NM_021991.2):c.1730G>A (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41758442C>T" "" "VUS" "" "0000658104" "0" "30" "17" "39919367" "39919367" "subst" "0.000361603" "02326" "JUP_000217" "g.39919367G>A" "" "" "" "JUP(NM_001352773.2):c.1365C>T (p.A455=), JUP(NM_021991.2):c.1365C>T (p.A455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41763115G>A" "" "likely benign" "" "0000658105" "0" "10" "17" "39923733" "39923733" "subst" "8.12354E-6" "02330" "JUP_000134" "g.39923733C>A" "" "" "" "JUP(NM_001352773.2):c.807G>T (p.G269=), JUP(NM_021991.2):c.807G>T (p.G269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41767481C>A" "" "benign" "" "0000658106" "0" "50" "17" "39925290" "39925290" "subst" "0" "02326" "JUP_000229" "g.39925290G>A" "" "" "" "JUP(NM_021991.2):c.638C>T (p.S213F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769038G>A" "" "VUS" "" "0000658107" "0" "50" "17" "39925764" "39925764" "subst" "4.14831E-6" "02325" "JUP_000042" "g.39925764G>A" "" "" "" "JUP(NM_001352773.2):c.374C>T (p.S125L), JUP(NM_021991.2):c.374C>T (p.S125L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769512G>A" "" "VUS" "" "0000658108" "0" "50" "17" "39925936" "39925936" "del" "0" "01943" "JUP_000204" "g.39925936del" "" "" "" "JUP(NM_001352773.1):c.209-3delC, JUP(NM_002230.4):c.209-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41769684del" "" "VUS" "" "0000669392" "3" "30" "17" "39925713" "39925713" "subst" "0.0438129" "03575" "JUP_000007" "g.39925713C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs41283425}" "Germline" "" "rs41283425" "0" "" "" "g.41769461C>T" "" "likely benign" "" "0000680842" "0" "30" "17" "39912056" "39912056" "subst" "0.00019194" "02327" "JUP_000064" "g.39912056G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680843" "0" "10" "17" "39913908" "39913908" "subst" "5.75199E-5" "02330" "JUP_000099" "g.39913908C>A" "" "" "" "JUP(NM_001352773.2):c.1902G>T (p.L634=), JUP(NM_002230.4):c.1902G>T (p.L634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000680844" "0" "50" "17" "39919360" "39919360" "subst" "6.50121E-5" "01943" "JUP_000230" "g.39919360C>T" "" "" "" "JUP(NM_001352773.2):c.1372G>A (p.A458T), JUP(NM_021991.2):c.1372G>A (p.A458T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680845" "0" "50" "17" "39919488" "39919489" "del" "0" "01804" "JUP_000231" "g.39919488_39919489del" "" "" "" "JUP(NM_002230.2):c.1246_1247del (p.(Ser416GlnfsTer31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680846" "0" "50" "17" "39921271" "39921271" "subst" "0.000150273" "01943" "JUP_000227" "g.39921271G>A" "" "" "" "JUP(NM_021991.2):c.958C>T (p.R320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680847" "0" "30" "17" "39923739" "39923739" "subst" "0.00020715" "01943" "JUP_000186" "g.39923739G>A" "" "" "" "JUP(NM_002230.4):c.801C>T (p.A267=), JUP(NM_021991.2):c.801C>T (p.A267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680848" "0" "50" "17" "39925254" "39925254" "subst" "1.70504E-5" "02330" "JUP_000048" "g.39925254G>A" "" "" "" "JUP(NM_001352773.2):c.674C>T (p.S225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680849" "0" "50" "17" "39925366" "39925366" "subst" "0" "01943" "JUP_000232" "g.39925366C>T" "" "" "" "JUP(NM_001352773.1):c.562G>A (p.A188T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680850" "0" "50" "17" "39925377" "39925377" "subst" "0" "02327" "JUP_000233" "g.39925377T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680851" "0" "30" "17" "39925679" "39925679" "subst" "4.59371E-5" "01943" "JUP_000150" "g.39925679G>A" "" "" "" "JUP(NM_002230.4):c.459C>T (p.D153=), JUP(NM_021991.2):c.459C>T (p.D153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680852" "0" "30" "17" "39925763" "39925763" "subst" "3.31779E-5" "02326" "JUP_000234" "g.39925763C>T" "" "" "" "JUP(NM_001352773.1):c.375G>A (p.S125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692330" "0" "30" "17" "39912027" "39912027" "subst" "0.000276286" "02326" "JUP_000167" "g.39912027G>A" "" "" "" "JUP(NM_001352773.1):c.2207C>T (p.P736L), JUP(NM_002230.4):c.2207C>T (p.P736L), JUP(NM_021991.2):c.2207C>T (p.P736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692331" "0" "10" "17" "39915054" "39915054" "subst" "0.000117203" "02330" "JUP_000235" "g.39915054C>T" "" "" "" "JUP(NM_001352773.2):c.1566G>A (p.A522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692332" "0" "50" "17" "39923635" "39923635" "subst" "4.06425E-6" "02325" "JUP_000236" "g.39923635C>T" "" "" "" "JUP(NM_002230.4):c.905G>A (p.S302N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000700638" "0" "50" "17" "39925350" "39925350" "subst" "6.57295E-5" "00006" "JUP_000241" "g.39925350A>G" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41769098A>G" "" "VUS" "" "0000700639" "0" "50" "17" "39920994" "39920994" "subst" "2.03153E-5" "00006" "JUP_000240" "g.39920994G>T" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41764742G>T" "" "VUS" "" "0000700812" "0" "50" "17" "39925887" "39925887" "subst" "1.74215E-5" "00006" "JUP_000203" "g.39925887C>T" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41769635C>T" "" "VUS" "" "0000700813" "0" "50" "17" "39925842" "39925842" "subst" "2.64889E-5" "00006" "JUP_000201" "g.39925842G>A" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41769590G>A" "" "VUS" "" "0000700814" "0" "50" "17" "39925726" "39925726" "subst" "2.48139E-5" "00006" "JUP_000153" "g.39925726C>T" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41769474C>T" "" "VUS" "" "0000700815" "0" "50" "17" "39925399" "39925399" "subst" "7.14724E-5" "00006" "JUP_000242" "g.39925399G>A" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41769147G>A" "" "VUS" "" "0000700816" "0" "50" "17" "39925398" "39925398" "subst" "2.5216E-5" "00006" "JUP_000195" "g.39925398C>T" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41769146C>T" "" "VUS" "" "0000700817" "0" "50" "17" "39915043" "39915043" "subst" "1.67466E-5" "00006" "JUP_000239" "g.39915043C>T" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41758791C>T" "" "VUS" "" "0000700818" "0" "50" "17" "39914709" "39914709" "subst" "1.62545E-5" "00006" "JUP_000238" "g.39914709C>T" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41758457C>T" "" "VUS" "" "0000700819" "0" "50" "17" "39913895" "39913895" "subst" "8.20802E-6" "00006" "JUP_000237" "g.39913895C>T" "1/94 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.41757643C>T" "" "VUS" "" "0000726336" "0" "50" "17" "39913731" "39913731" "subst" "0.00013806" "02325" "JUP_000171" "g.39913731C>T" "" "" "" "JUP(NM_002230.4):c.1982G>A (p.R661Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726337" "0" "50" "17" "39914757" "39914757" "subst" "8.15335E-6" "02326" "JUP_000212" "g.39914757A>G" "" "" "" "JUP(NM_001352773.1):c.1667T>C (p.M556T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726338" "0" "30" "17" "39914998" "39914998" "subst" "4.35529E-6" "01943" "JUP_000243" "g.39914998T>A" "" "" "" "JUP(NM_021991.2):c.1622A>T (p.H541L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726339" "0" "10" "17" "39915057" "39915057" "subst" "0.0067834" "02326" "JUP_000025" "g.39915057T>C" "" "" "" "JUP(NM_002230.2):c.1563A>G (p.A521=), JUP(NM_002230.4):c.1563A>G (p.A521=), JUP(NM_021991.2):c.1563A>G (p.A521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726340" "0" "50" "17" "39919474" "39919474" "subst" "4.06095E-6" "02326" "JUP_000244" "g.39919474A>G" "" "" "" "JUP(NM_002230.2):c.1258T>C (p.C420R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726341" "0" "30" "17" "39925475" "39925475" "del" "2.14598E-5" "02330" "JUP_000245" "g.39925475del" "" "" "" "JUP(NM_001352773.2):c.469-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726342" "0" "50" "17" "39925711" "39925711" "subst" "9.51176E-5" "02326" "JUP_000043" "g.39925711C>T" "" "" "" "JUP(NM_002230.2):c.427G>A (p.A143T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726343" "0" "30" "17" "39928108" "39928108" "subst" "2.56858E-5" "02330" "JUP_000246" "g.39928108G>A" "" "" "" "JUP(NM_001352773.2):c.-2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807943" "0" "50" "17" "39912040" "39912040" "subst" "0" "02325" "JUP_000247" "g.39912040C>A" "" "" "" "JUP(NM_002230.4):c.2194G>T (p.G732C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807944" "0" "30" "17" "39913768" "39913768" "subst" "4.87286E-5" "02326" "JUP_000093" "g.39913768G>A" "" "" "" "JUP(NM_002230.2):c.1945C>T (p.L649=), JUP(NM_002230.4):c.1945C>T (p.L649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807945" "0" "10" "17" "39913878" "39913878" "del" "0" "02330" "JUP_000248" "g.39913878del" "" "" "" "JUP(NM_001352773.2):c.1924+12delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807946" "0" "30" "17" "39914042" "39914042" "subst" "0.00216253" "02326" "JUP_000102" "g.39914042G>A" "" "" "" "JUP(NM_002230.2):c.1774-6C>T, JUP(NM_002230.4):c.1774-6C>T, JUP(NM_021991.2):c.1774-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807947" "0" "10" "17" "39919560" "39919560" "subst" "0.000244608" "02330" "JUP_000122" "g.39919560C>T" "" "" "" "JUP(NM_001352773.2):c.1172G>A (p.S391N), JUP(NM_021991.2):c.1172G>A (p.S391N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807948" "0" "10" "17" "39923851" "39923851" "subst" "0" "02330" "JUP_000249" "g.39923851G>A" "" "" "" "JUP(NM_001352773.2):c.708-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807949" "0" "10" "17" "39925274" "39925274" "subst" "2.52279E-5" "02330" "JUP_000142" "g.39925274C>T" "" "" "" "JUP(NM_001352773.2):c.654G>A (p.G218=), JUP(NM_002230.4):c.654G>A (p.G218=), JUP(NM_021991.2):c.654G>A (p.G218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807950" "0" "30" "17" "39925361" "39925361" "subst" "0.000305255" "01943" "JUP_000008" "g.39925361G>A" "" "" "" "JUP(NM_002230.4):c.567C>T (p.V189=), JUP(NM_021991.2):c.567C>T (p.V189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807951" "0" "50" "17" "39925443" "39925443" "subst" "1.28093E-5" "01943" "JUP_000250" "g.39925443G>A" "" "" "" "JUP(NM_021991.2):c.485C>T (p.A162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807952" "0" "50" "17" "39925453" "39925453" "subst" "3.42228E-5" "02326" "JUP_000026" "g.39925453C>A" "" "" "" "JUP(NM_002230.2):c.475G>T (p.V159L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807953" "0" "50" "17" "39927946" "39927946" "subst" "3.25074E-5" "02330" "JUP_000251" "g.39927946G>A" "" "" "" "JUP(NM_001352773.2):c.161C>T (p.T54M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807954" "0" "50" "17" "39928051" "39928051" "subst" "0.000122915" "02325" "JUP_000028" "g.39928051G>A" "" "" "" "JUP(NM_002230.4):c.56C>T (p.T19I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854865" "0" "30" "17" "39912031" "39912031" "subst" "0" "01943" "JUP_000252" "g.39912031G>A" "" "" "" "JUP(NM_021991.2):c.2203C>T (p.P735S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854866" "0" "50" "17" "39912106" "39912106" "subst" "2.04777E-5" "02330" "JUP_000253" "g.39912106G>A" "" "" "" "JUP(NM_001352773.2):c.2128C>T (p.P710S), JUP(NM_002230.4):c.2128C>T (p.P710S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854867" "0" "30" "17" "39912129" "39912129" "subst" "5.38307E-5" "02327" "JUP_000254" "g.39912129C>T" "" "" "" "JUP(NM_001352773.2):c.2105G>A (p.R702H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854868" "0" "30" "17" "39914042" "39914042" "subst" "0.00216253" "02327" "JUP_000102" "g.39914042G>A" "" "" "" "JUP(NM_002230.2):c.1774-6C>T, JUP(NM_002230.4):c.1774-6C>T, JUP(NM_021991.2):c.1774-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854869" "0" "10" "17" "39919280" "39919280" "subst" "1.63407E-5" "02330" "JUP_000256" "g.39919280G>A" "" "" "" "JUP(NM_001352773.2):c.1452C>T (p.A484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854870" "0" "30" "17" "39919454" "39919454" "subst" "0" "02327" "JUP_000257" "g.39919454C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854871" "0" "30" "17" "39921027" "39921027" "subst" "0" "01943" "JUP_000072" "g.39921027G>C" "" "" "" "JUP(NM_021991.2):c.1096C>G (p.P366A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854872" "0" "30" "17" "39921270" "39921270" "subst" "5.68565E-5" "02327" "JUP_000258" "g.39921270C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854873" "0" "50" "17" "39921271" "39921271" "subst" "0.000150273" "02327" "JUP_000227" "g.39921271G>A" "" "" "" "JUP(NM_021991.2):c.958C>T (p.R320C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854874" "0" "50" "17" "39923648" "39923648" "subst" "0.000146268" "02325" "JUP_000222" "g.39923648C>T" "" "" "" "JUP(NM_001352773.2):c.892G>A (p.G298S), JUP(NM_002230.4):c.892G>A (p.G298S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854875" "0" "50" "17" "39923722" "39923722" "subst" "2.03062E-5" "02330" "JUP_000259" "g.39923722A>G" "" "" "" "JUP(NM_001352773.2):c.818T>C (p.M273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854876" "0" "30" "17" "39923730" "39923730" "subst" "0" "02327" "JUP_000260" "g.39923730C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854877" "0" "50" "17" "39923844" "39923844" "subst" "2.08672E-5" "02330" "JUP_000261" "g.39923844G>C" "" "" "" "JUP(NM_001352773.2):c.708-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854878" "0" "50" "17" "39925844" "39925844" "subst" "0" "02330" "JUP_000226" "g.39925844G>C" "" "" "" "JUP(NM_001352773.2):c.294C>G (p.S98R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854879" "0" "50" "17" "39928036" "39928036" "subst" "8.15109E-6" "01943" "JUP_000264" "g.39928036G>A" "" "" "" "JUP(NM_021991.2):c.71C>T (p.S24L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865205" "0" "10" "17" "39913754" "39913754" "subst" "6.90294E-5" "02330" "JUP_000173" "g.39913754G>A" "" "" "" "JUP(NM_001352773.2):c.1959C>T (p.S653=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865206" "0" "50" "17" "39915001" "39915001" "subst" "0.000104634" "02325" "JUP_000255" "g.39915001C>T" "" "" "" "JUP(NM_002230.4):c.1619G>A (p.R540H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865207" "0" "50" "17" "39915113" "39915113" "subst" "0.000103003" "01943" "JUP_000112" "g.39915113C>T" "" "" "" "JUP(NM_002230.4):c.1507G>A (p.G503S), JUP(NM_021991.2):c.1507G>A (p.G503S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865208" "0" "50" "17" "39921027" "39921027" "subst" "1.21877E-5" "02330" "JUP_000220" "g.39921027G>T" "" "" "" "JUP(NM_001352773.2):c.1096C>A (p.P366T), JUP(NM_021991.2):c.1096C>A (p.P366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865209" "0" "50" "17" "39925231" "39925231" "subst" "0" "02330" "JUP_000262" "g.39925231G>A" "" "" "" "JUP(NM_001352773.2):c.697C>T (p.R233C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865210" "0" "50" "17" "39925852" "39925852" "subst" "1.77137E-5" "02325" "JUP_000022" "g.39925852C>T" "" "" "" "JUP(NM_001352773.2):c.286G>A (p.E96K), JUP(NM_002230.4):c.286G>A (p.E96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865211" "0" "10" "17" "39927945" "39927945" "subst" "1.21923E-5" "02330" "JUP_000263" "g.39927945C>G" "" "" "" "JUP(NM_001352773.2):c.162G>C (p.T54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893529" "0" "10" "17" "39911978" "39911978" "subst" "5.53128E-5" "02330" "JUP_000265" "g.39911978G>A" "" "" "" "JUP(NM_001352773.2):c.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893530" "0" "50" "17" "39911978" "39911978" "subst" "0" "02325" "JUP_000266" "g.39911978G>C" "" "" "" "JUP(NM_001352773.2):c.*18C>G, JUP(NM_002230.4):c.*18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893531" "0" "50" "17" "39912112" "39912112" "subst" "3.28033E-5" "02326" "JUP_000168" "g.39912112C>T" "" "" "" "JUP(NM_002230.2):c.2122G>A (p.D708N), JUP(NM_021991.2):c.2122G>A (p.D708N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893532" "0" "50" "17" "39914679" "39914679" "subst" "0" "02327" "JUP_000104" "g.39914679C>T" "" "" "" "JUP(NM_002230.4):c.1745G>A (p.R582Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893533" "0" "70" "17" "39914695" "39914695" "subst" "3.65646E-5" "02330" "JUP_000211" "g.39914695G>A" "" "" "" "JUP(NM_001352773.2):c.1729C>T (p.R577C), JUP(NM_021991.2):c.1729C>T (p.R577C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000893534" "0" "50" "17" "39919338" "39919338" "subst" "1.21991E-5" "02325" "JUP_000267" "g.39919338C>T" "" "" "" "JUP(NM_002230.4):c.1394G>A (p.R465H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893535" "0" "30" "17" "39919366" "39919366" "subst" "0.000268171" "02325" "JUP_000117" "g.39919366C>T" "" "" "" "JUP(NM_002230.2):c.1366G>A (p.V456I), JUP(NM_002230.4):c.1366G>A (p.V456I), JUP(NM_021991.2):c.1366G>A (p.V456I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893536" "0" "50" "17" "39919373" "39919373" "subst" "4.46918E-5" "02326" "JUP_000024" "g.39919373C>A" "" "" "" "JUP(NM_002230.2):c.1359G>T (p.E453D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893537" "0" "50" "17" "39919401" "39919401" "subst" "1.62459E-5" "02325" "JUP_000119" "g.39919401C>T" "" "" "" "JUP(NM_001352773.2):c.1331G>A (p.R444H), JUP(NM_002230.4):c.1331G>A (p.R444H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893538" "0" "30" "17" "39919560" "39919560" "subst" "0.000244608" "02327" "JUP_000122" "g.39919560C>T" "" "" "" "JUP(NM_001352773.2):c.1172G>A (p.S391N), JUP(NM_021991.2):c.1172G>A (p.S391N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893539" "0" "10" "17" "39923673" "39923673" "subst" "0.00359867" "02326" "JUP_000010" "g.39923673G>A" "" "" "" "JUP(NM_002230.4):c.867C>T (p.T289=), JUP(NM_021991.2):c.867C>T (p.T289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893540" "0" "50" "17" "39925360" "39925360" "subst" "4.12633E-6" "02326" "JUP_000268" "g.39925360C>G" "" "" "" "JUP(NM_002230.2):c.568G>C (p.V190L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893541" "0" "50" "17" "39925732" "39925732" "subst" "1.65055E-5" "02330" "JUP_000269" "g.39925732C>T" "" "" "" "JUP(NM_001352773.2):c.406G>A (p.D136N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893542" "0" "10" "17" "39925792" "39925792" "subst" "1.28955E-5" "02330" "JUP_000270" "g.39925792G>A" "" "" "" "JUP(NM_001352773.2):c.346C>T (p.L116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893543" "0" "30" "17" "39925886" "39925886" "subst" "8.7222E-6" "02327" "JUP_000271" "g.39925886C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893544" "0" "50" "17" "39925902" "39925902" "subst" "0" "02326" "JUP_000272" "g.39925902G>A" "" "" "" "JUP(NM_002230.2):c.236C>T (p.T79I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893545" "0" "30" "17" "39925936" "39925936" "subst" "0" "02330" "JUP_000273" "g.39925936G>T" "" "" "" "JUP(NM_001352773.2):c.209-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893546" "0" "70" "17" "39927994" "39927996" "dup" "0" "02326" "JUP_000003" "g.39927994_39927996dup" "" "" "" "JUP(NM_002230.2):c.116_118dupGCA (p.S39dup), JUP(NM_002230.4):c.116_118dupGCA (p.S39dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000893547" "0" "50" "17" "39928072" "39928072" "subst" "0" "02325" "JUP_000040" "g.39928072T>C" "" "" "" "JUP(NM_002230.4):c.35A>G (p.K12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914804" "0" "50" "17" "39919401" "39919401" "subst" "1.62459E-5" "02329" "JUP_000119" "g.39919401C>T" "" "" "" "JUP(NM_001352773.2):c.1331G>A (p.R444H), JUP(NM_002230.4):c.1331G>A (p.R444H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914805" "0" "50" "17" "39923794" "39923794" "subst" "1.22074E-5" "02326" "JUP_000136" "g.39923794G>A" "" "" "" "JUP(NM_002230.2):c.746C>T (p.T249M), JUP(NM_002230.4):c.746C>T (p.T249M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914806" "0" "50" "17" "39925881" "39925881" "subst" "1.75386E-5" "02330" "JUP_000158" "g.39925881C>T" "" "" "" "JUP(NM_001352773.2):c.257G>A (p.R86Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926464" "0" "10" "17" "39911978" "39911978" "subst" "0" "02330" "JUP_000266" "g.39911978G>C" "" "" "" "JUP(NM_001352773.2):c.*18C>G, JUP(NM_002230.4):c.*18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926465" "0" "50" "17" "39912130" "39912130" "subst" "1.65479E-5" "02330" "JUP_000274" "g.39912130G>A" "" "" "" "JUP(NM_001352773.2):c.2104C>T (p.R702C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926466" "0" "50" "17" "39914694" "39914694" "subst" "8.12546E-6" "02326" "JUP_000105" "g.39914694C>T" "" "" "" "JUP(NM_001352773.2):c.1730G>A (p.R577H), JUP(NM_002230.2):c.1730G>A (p.R577H), JUP(NM_002230.4):c.1730G>A (p.R577H), JUP(NM_021991.2):c.1730G>A (p...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926467" "0" "10" "17" "39914777" "39914777" "subst" "8.20149E-6" "02330" "JUP_000275" "g.39914777G>A" "" "" "" "JUP(NM_001352773.2):c.1654-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000926468" "0" "50" "17" "39915023" "39915023" "subst" "0" "02326" "JUP_000276" "g.39915023T>C" "" "" "" "JUP(NM_002230.2):c.1597A>G (p.K533E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926469" "0" "50" "17" "39925786" "39925786" "subst" "4.69239E-5" "02330" "JUP_000277" "g.39925786C>T" "" "" "" "JUP(NM_001352773.2):c.352G>A (p.E118K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926470" "0" "30" "17" "39942836" "39942836" "subst" "0" "02326" "JUP_000278" "g.39942836G>C" "" "" "" "JUP(NM_002230.2):c.-9+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930748" "0" "50" "17" "39919360" "39919360" "subst" "6.50121E-5" "02330" "JUP_000230" "g.39919360C>T" "" "" "" "JUP(NM_001352773.2):c.1372G>A (p.A458T), JUP(NM_021991.2):c.1372G>A (p.A458T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930749" "0" "30" "17" "39919520" "39919520" "subst" "0" "02326" "JUP_000279" "g.39919520G>A" "" "" "" "JUP(NM_002230.2):c.1212C>T (p.D404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930750" "0" "10" "17" "39921230" "39921230" "subst" "0" "02330" "JUP_000280" "g.39921230A>G" "" "" "" "JUP(NM_001352773.2):c.999T>C (p.R333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930751" "0" "10" "17" "39923736" "39923736" "subst" "2.03098E-5" "02330" "JUP_000281" "g.39923736G>A" "" "" "" "JUP(NM_001352773.2):c.804C>T (p.D268=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930752" "0" "50" "17" "39925300" "39925300" "subst" "0" "02326" "JUP_000192" "g.39925300G>A" "" "" "" "JUP(NM_001352773.2):c.628C>T (p.H210Y), JUP(NM_002230.2):c.628C>T (p.H210Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930753" "0" "10" "17" "39925712" "39925712" "subst" "0.000152864" "02330" "JUP_000151" "g.39925712G>A" "" "" "" "JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950857" "0" "50" "17" "39912027" "39912027" "subst" "0.000276286" "02325" "JUP_000167" "g.39912027G>A" "" "" "" "JUP(NM_001352773.1):c.2207C>T (p.P736L), JUP(NM_002230.4):c.2207C>T (p.P736L), JUP(NM_021991.2):c.2207C>T (p.P736L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950858" "0" "50" "17" "39912096" "39912096" "subst" "1.2271E-5" "02330" "JUP_000282" "g.39912096G>A" "" "" "" "JUP(NM_001352773.2):c.2138C>T (p.P713L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950859" "0" "50" "17" "39912106" "39912106" "subst" "2.04777E-5" "02325" "JUP_000253" "g.39912106G>A" "" "" "" "JUP(NM_001352773.2):c.2128C>T (p.P710S), JUP(NM_002230.4):c.2128C>T (p.P710S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950860" "0" "10" "17" "39913932" "39913932" "subst" "4.09883E-6" "02330" "JUP_000283" "g.39913932G>A" "" "" "" "JUP(NM_001352773.2):c.1878C>T (p.A626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950861" "0" "50" "17" "39921279" "39921279" "subst" "1.21836E-5" "02330" "JUP_000284" "g.39921279T>A" "" "" "" "JUP(NM_001352773.2):c.950A>T (p.Q317L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950862" "0" "30" "17" "39923836" "39923836" "subst" "0.000158111" "02325" "JUP_000045" "g.39923836G>C" "" "" "" "JUP(NM_001352773.2):c.708-4C>G, JUP(NM_002230.4):c.708-4C>G, JUP(NM_021991.2):c.708-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950863" "0" "50" "17" "39925461" "39925468" "del" "0" "02330" "JUP_000046" "g.39925461_39925468del" "" "" "" "JUP(NM_001352773.2):c.469-8_469-1delCCCTCCAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950864" "0" "30" "17" "39925943" "39925943" "subst" "0" "02330" "JUP_000285" "g.39925943G>T" "" "" "" "JUP(NM_001352773.2):c.209-14C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950865" "0" "30" "17" "39928023" "39928023" "subst" "8.53763E-5" "02326" "JUP_000286" "g.39928023C>T" "" "" "" "JUP(NM_002230.2):c.84G>A (p.S28=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957935" "0" "50" "17" "39925231" "39925231" "subst" "0" "00006" "JUP_000262" "g.39925231G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41768979G>A" "" "VUS" "" "0000968866" "0" "10" "17" "39914997" "39914997" "subst" "1.30998E-5" "02330" "JUP_000287" "g.39914997G>A" "" "" "" "JUP(NM_001352773.2):c.1623C>T (p.H541=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000968867" "0" "50" "17" "39919294" "39919294" "subst" "0" "02330" "JUP_000288" "g.39919294A>G" "" "" "" "JUP(NM_001352773.2):c.1438T>C (p.Y480H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968868" "0" "50" "17" "39919344" "39919344" "subst" "0" "02330" "JUP_000289" "g.39919344G>C" "" "" "" "JUP(NM_001352773.2):c.1388C>G (p.T463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968869" "0" "50" "17" "39925320" "39925320" "subst" "3.29951E-5" "02330" "JUP_000143" "g.39925320C>T" "" "" "" "JUP(NM_001352773.2):c.608G>A (p.R203H), JUP(NM_002230.4):c.608G>A (p.R203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968870" "0" "30" "17" "39925682" "39925682" "subst" "0" "02330" "JUP_000290" "g.39925682G>A" "" "" "" "JUP(NM_001352773.2):c.456C>T (p.N152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982469" "0" "50" "17" "39912129" "39912129" "subst" "5.38307E-5" "02330" "JUP_000254" "g.39912129C>T" "" "" "" "JUP(NM_001352773.2):c.2105G>A (p.R702H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982470" "0" "50" "17" "39913725" "39913725" "subst" "0" "02326" "JUP_000209" "g.39913725C>T" "" "" "" "JUP(NM_002230.2):c.1988G>A (p.R663H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982471" "0" "30" "17" "39923625" "39923625" "subst" "0.00208693" "01804" "JUP_000070" "g.39923625G>A" "" "" "" "JUP(NM_002230.2):c.909+6C>T (p.?), JUP(NM_002230.4):c.909+6C>T, JUP(NM_021991.2):c.909+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982472" "0" "10" "17" "39925235" "39925235" "subst" "0" "02330" "JUP_000291" "g.39925235C>A" "" "" "" "JUP(NM_001352773.2):c.693G>T (p.L231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989667" "0" "50" "17" "39919474" "39919474" "subst" "4.06095E-6" "02515" "JUP_000244" "g.39919474A>G" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs781967657" "0" "" "" "g.41763222A>G" "" "VUS" "" "0000989698" "0" "50" "17" "39919515" "39919515" "subst" "1.21884E-5" "02515" "JUP_000292" "g.39919515T>C" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs782188536" "0" "" "" "g.41763263T>C" "" "VUS" "" "0000989699" "0" "50" "17" "39923644" "39923644" "subst" "8.12612E-6" "02515" "JUP_000293" "g.39923644T>C" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs781830615" "0" "" "" "g.41767392T>C" "" "VUS" "" "0001003207" "0" "50" "17" "39912427" "39912427" "subst" "0" "02325" "JUP_000294" "g.39912427C>T" "" "" "" "JUP(NM_002230.4):c.2086G>A (p.D696N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003208" "0" "50" "17" "39914699" "39914699" "subst" "2.03123E-5" "02330" "JUP_000106" "g.39914699C>A" "" "" "" "JUP(NM_001352773.2):c.1725G>T (p.M575I), JUP(NM_021991.2):c.1725G>T (p.M575I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003209" "0" "50" "17" "39914968" "39914968" "subst" "0" "02330" "JUP_000295" "g.39914968G>A" "" "" "" "JUP(NM_001352773.2):c.1652C>T (p.T551M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003210" "0" "30" "17" "39925253" "39925253" "subst" "2.56566E-5" "02330" "JUP_000141" "g.39925253C>T" "" "" "" "JUP(NM_001352773.2):c.675G>A (p.S225=), JUP(NM_021991.2):c.675G>A (p.S225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007517" "0" "70" "17" "39921190" "39921190" "subst" "2.03158E-5" "00006" "JUP_000127" "g.39921190C>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs782301706" "0" "" "" "g.41764938C>T" "" "VUS" "" "0001007553" "0" "70" "17" "39921313" "39921313" "del" "0" "00006" "JUP_000296" "g.39921313del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs782648921" "0" "" "" "g.41765061del" "" "VUS" "" "0001015518" "0" "50" "17" "39912040" "39912040" "subst" "0" "02327" "JUP_000247" "g.39912040C>A" "" "" "" "JUP(NM_002230.4):c.2194G>T (p.G732C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015519" "0" "10" "17" "39912458" "39912458" "subst" "0" "02330" "JUP_000297" "g.39912458G>A" "" "" "" "JUP(NM_001352773.2):c.2055C>T (p.S685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015520" "0" "50" "17" "39914680" "39914680" "subst" "4.0625E-6" "02325" "JUP_000298" "g.39914680G>A" "" "" "" "JUP(NM_002230.4):c.1744C>T (p.R582W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015521" "0" "10" "17" "39919361" "39919361" "subst" "9.34572E-5" "02330" "JUP_000180" "g.39919361G>A" "" "" "" "JUP(NM_001352773.2):c.1371C>T (p.C457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015522" "0" "50" "17" "39921279" "39921279" "subst" "4.06121E-5" "02330" "JUP_000184" "g.39921279T>G" "" "" "" "JUP(NM_001352773.2):c.950A>C (p.Q317P), JUP(NM_021991.2):c.950A>C (p.Q317P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015523" "0" "50" "17" "39925248" "39925248" "subst" "0" "02330" "JUP_000224" "g.39925248C>T" "" "" "" "JUP(NM_001352773.2):c.680G>A (p.G227D), JUP(NM_021991.2):c.680G>A (p.G227D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015524" "0" "50" "17" "39925852" "39925852" "subst" "1.77137E-5" "02330" "JUP_000022" "g.39925852C>T" "" "" "" "JUP(NM_001352773.2):c.286G>A (p.E96K), JUP(NM_002230.4):c.286G>A (p.E96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015525" "0" "70" "17" "39927898" "39927898" "subst" "4.07571E-6" "02327" "JUP_000299" "g.39927898C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015526" "0" "10" "17" "39927972" "39927972" "subst" "0" "02330" "JUP_000300" "g.39927972C>T" "" "" "" "JUP(NM_001352773.2):c.135G>A (p.E45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026878" "0" "50" "17" "39921283" "39921283" "subst" "1.21843E-5" "02330" "JUP_000185" "g.39921283C>T" "" "" "" "JUP(NM_001352773.2):c.946G>A (p.V316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026879" "0" "50" "17" "39921303" "39921303" "subst" "4.46769E-5" "02326" "JUP_000301" "g.39921303T>C" "" "" "" "JUP(NM_002230.2):c.926A>G (p.N309S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026880" "0" "50" "17" "39923648" "39923648" "subst" "0.000146268" "02330" "JUP_000222" "g.39923648C>T" "" "" "" "JUP(NM_001352773.2):c.892G>A (p.G298S), JUP(NM_002230.4):c.892G>A (p.G298S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026881" "0" "50" "17" "39923722" "39923722" "subst" "2.03062E-5" "02327" "JUP_000259" "g.39923722A>G" "" "" "" "JUP(NM_001352773.2):c.818T>C (p.M273T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026882" "0" "30" "17" "39923836" "39923836" "subst" "0.000158111" "02330" "JUP_000045" "g.39923836G>C" "" "" "" "JUP(NM_001352773.2):c.708-4C>G, JUP(NM_002230.4):c.708-4C>G, JUP(NM_021991.2):c.708-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026883" "0" "50" "17" "39925422" "39925422" "subst" "0" "02325" "JUP_000302" "g.39925422A>G" "" "" "" "JUP(NM_002230.4):c.506T>C (p.L169P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026884" "0" "30" "17" "39925940" "39925940" "subst" "0" "02330" "JUP_000303" "g.39925940T>C" "" "" "" "JUP(NM_001352773.2):c.209-11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026885" "0" "50" "17" "39928082" "39928082" "subst" "0" "02325" "JUP_000304" "g.39928082G>C" "" "" "" "JUP(NM_002230.4):c.25C>G (p.Q9E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041825" "0" "50" "17" "39919401" "39919401" "subst" "1.62459E-5" "02327" "JUP_000119" "g.39919401C>T" "" "" "" "JUP(NM_001352773.2):c.1331G>A (p.R444H), JUP(NM_002230.4):c.1331G>A (p.R444H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041826" "0" "50" "17" "39927903" "39927903" "subst" "0" "02330" "JUP_000305" "g.39927903G>T" "" "" "" "JUP(NM_001352773.2):c.204C>A (p.S68R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046623" "0" "50" "17" "39925864" "39925864" "subst" "0" "02325" "JUP_000306" "g.39925864C>T" "" "" "" "JUP(NM_002230.4):c.274G>A (p.G92S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060403" "0" "50" "17" "39925300" "39925300" "subst" "0" "03779" "JUP_000192" "g.39925300G>A" "" "" "" "" "" "Unknown" "" "rs1567818128" "0" "" "" "" "" "VUS" "" "0001060404" "0" "50" "17" "39923746" "39923746" "subst" "8.12407E-6" "03779" "JUP_000050" "g.39923746C>T" "" "" "" "" "" "Unknown" "" "rs782440692" "0" "" "" "" "" "VUS" "" "0001066730" "0" "50" "17" "39913900" "39913900" "subst" "7.81186E-5" "02325" "JUP_000097" "g.39913900C>T" "" "" "" "JUP(NM_002230.4):c.1910G>A (p.R637H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066731" "0" "50" "17" "39914766" "39914766" "subst" "4.08527E-6" "02325" "JUP_000307" "g.39914766C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066732" "0" "50" "17" "39919510" "39919510" "subst" "2.4375E-5" "02325" "JUP_000308" "g.39919510G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066733" "0" "50" "17" "39925320" "39925320" "subst" "3.29951E-5" "02327" "JUP_000143" "g.39925320C>T" "" "" "" "JUP(NM_001352773.2):c.608G>A (p.R203H), JUP(NM_002230.4):c.608G>A (p.R203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066734" "0" "50" "17" "39925368" "39925368" "subst" "0.000111836" "02325" "JUP_000309" "g.39925368G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001066735" "0" "50" "17" "39925809" "39925809" "subst" "2.17943E-5" "02325" "JUP_000310" "g.39925809G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes JUP ## Count = 529 "{{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}}" "0000036016" "00010288" "55" "909" "6" "909" "6" "c.909+6C>T" "r.(?)" "p.(=)" "?" "" "0000036017" "00010288" "55" "909" "6" "909" "6" "c.909+6C>T" "r.(?)" "p.(=)" "?" "" "0000052361" "00010288" "50" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Leu)" "4" "" "0000095437" "00010288" "50" "1096" "0" "1096" "0" "c.1096C>G" "r.(?)" "p.(Pro366Ala)" "7" "" "0000095592" "00010288" "50" "1324" "0" "1324" "0" "c.1324A>T" "r.(?)" "p.(Ile442Phe)" "8" "" "0000095798" "00010288" "50" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "13" "" "0000164640" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.2038_2039del" "p.Trp680Glyfs*11" "12" "" "0000166214" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166215" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166216" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166217" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166218" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166219" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166220" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166221" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166222" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166223" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166224" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166225" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000166226" "00010288" "90" "2038" "0" "2039" "0" "c.2038_2039del" "r.(2038_2039del)" "p.(Trp680Glyfs*11)" "12" "" "0000218370" "00010288" "50" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Arg540Cys)" "" "" "0000235437" "00010288" "30" "909" "6" "909" "6" "c.909+6C>T" "r.(?)" "p.(=)" "5i" "" "0000247423" "00010288" "10" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(Asp71=)" "" "" "0000247424" "00010288" "10" "909" "17" "909" "17" "c.909+17T>C" "r.(=)" "p.(=)" "" "" "0000247443" "00010288" "10" "2025" "0" "2025" "0" "c.2025T>C" "r.(?)" "p.(His675=)" "" "" "0000247837" "00010288" "10" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(Asp71=)" "" "" "0000247849" "00010288" "10" "909" "17" "909" "17" "c.909+17T>C" "r.(=)" "p.(=)" "" "" "0000248383" "00010288" "10" "2025" "0" "2025" "0" "c.2025T>C" "r.(?)" "p.(His675=)" "" "" "0000249406" "00010288" "30" "1677" "0" "1677" "0" "c.1677T>C" "r.(?)" "p.(Ile559=)" "" "" "0000250619" "00010288" "10" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(Asp71=)" "" "" "0000250631" "00010288" "10" "909" "17" "909" "17" "c.909+17T>C" "r.(=)" "p.(=)" "" "" "0000252289" "00010288" "30" "1925" "-19" "1925" "-19" "c.1925-19T>G" "r.(=)" "p.(=)" "" "" "0000252719" "00010288" "50" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Leu270Arg)" "" "" "0000252971" "00010288" "10" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(Asp71=)" "" "" "0000252983" "00010288" "10" "909" "17" "909" "17" "c.909+17T>C" "r.(=)" "p.(=)" "" "" "0000278197" "00010288" "10" "2240" "0" "2240" "0" "c.*2C>T" "r.(=)" "p.(=)" "" "" "0000278198" "00010288" "50" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "" "0000278199" "00010288" "10" "1054" "7" "1054" "7" "c.1054+7A>T" "r.(=)" "p.(=)" "" "" "0000278200" "00010288" "50" "1100" "0" "1100" "0" "c.1100G>C" "r.(?)" "p.(Arg367Pro)" "" "" "0000278201" "00010288" "10" "1159" "-13" "1159" "-13" "c.1159-13C>A" "r.(=)" "p.(=)" "" "" "0000278202" "00010288" "10" "1159" "-20" "1159" "-20" "c.1159-20G>A" "r.(=)" "p.(=)" "" "" "0000278203" "00010288" "10" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(Leu408=)" "" "" "0000278204" "00010288" "50" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "" "" "0000278205" "00010288" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Ile)" "" "" "0000278206" "00010288" "50" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Lys499Asn)" "" "" "0000278207" "00010288" "50" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Ser)" "" "" "0000278208" "00010288" "10" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(Ala521=)" "" "" "0000278209" "00010288" "10" "1653" "10" "1653" "10" "c.1653+10C>A" "r.(=)" "p.(=)" "" "" "0000278210" "00010288" "10" "1654" "-9" "1654" "-5" "c.1654-9_1654-5del" "r.spl?" "p.?" "" "" "0000278211" "00010288" "50" "1666" "0" "1666" "0" "c.1666A>G" "r.(?)" "p.(Met556Val)" "" "" "0000278212" "00010288" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577His)" "" "" "0000278213" "00010288" "50" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Arg582Gln)" "" "" "0000278214" "00010288" "10" "1774" "-13" "1774" "-13" "c.1774-13C>T" "r.(=)" "p.(=)" "" "" "0000278215" "00010288" "10" "1774" "-6" "1774" "-6" "c.1774-6C>T" "r.(=)" "p.(=)" "" "" "0000278216" "00010288" "50" "1882" "0" "1882" "0" "c.1882G>A" "r.(?)" "p.(Ala628Thr)" "" "" "0000278217" "00010288" "50" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Arg637His)" "" "" "0000278218" "00010288" "10" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "" "" "0000278219" "00010288" "50" "1987" "0" "1987" "0" "c.1987C>T" "r.(?)" "p.(Arg663Cys)" "" "" "0000278220" "00010288" "10" "1989" "0" "1989" "0" "c.1989C>T" "r.(?)" "p.(Arg663=)" "" "" "0000278221" "00010288" "10" "2031" "0" "2031" "0" "c.2031G>A" "r.(?)" "p.(Pro677=)" "" "" "0000278222" "00010288" "10" "2047" "-14" "2047" "-14" "c.2047-14C>G" "r.(=)" "p.(=)" "" "" "0000278223" "00010288" "10" "2059" "0" "2059" "0" "c.2059A>G" "r.(?)" "p.(Ile687Val)" "" "" "0000278224" "00010288" "10" "2086" "13" "2086" "13" "c.2086+13C>T" "r.(=)" "p.(=)" "" "" "0000278225" "00010288" "10" "2089" "0" "2089" "0" "c.2089A>T" "r.(?)" "p.(Met697Leu)" "" "" "0000278226" "00010288" "10" "258" "0" "258" "0" "c.258G>A" "r.(?)" "p.(Arg86=)" "" "" "0000278227" "00010288" "50" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Glu138Lys)" "" "" "0000278228" "00010288" "10" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000278229" "00010288" "10" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asp153=)" "" "" "0000278230" "00010288" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Glu154Lys)" "" "" "0000278231" "00010288" "10" "486" "0" "486" "0" "c.486G>A" "r.(?)" "p.(Ala162=)" "" "" "0000278232" "00010288" "10" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(Val189=)" "" "" "0000278233" "00010288" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Ile)" "" "" "0000278234" "00010288" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Met)" "" "" "0000278235" "00010288" "10" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Thr289=)" "" "" "0000278236" "00010288" "10" "909" "6" "909" "6" "c.909+6C>T" "r.(=)" "p.(=)" "" "" "0000278237" "00010288" "10" "942" "0" "942" "0" "c.942C>T" "r.(?)" "p.(Ala314=)" "" "" "0000281657" "00010288" "30" "2256" "0" "2256" "0" "c.*18C>A" "r.(=)" "p.(=)" "" "" "0000281658" "00010288" "10" "1159" "-13" "1159" "-13" "c.1159-13C>A" "r.(=)" "p.(=)" "" "" "0000281659" "00010288" "30" "1159" "-20" "1159" "-20" "c.1159-20G>A" "r.(=)" "p.(=)" "" "" "0000281660" "00010288" "30" "1377" "0" "1377" "0" "c.1377G>T" "r.(?)" "p.(Leu459=)" "" "" "0000281661" "00010288" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Cys49=)" "" "" "0000281662" "00010288" "50" "1486" "0" "1486" "0" "c.1486C>A" "r.(?)" "p.(Pro496Thr)" "" "" "0000281663" "00010288" "50" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Ser)" "" "" "0000281664" "00010288" "30" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(Ala521=)" "" "" "0000281665" "00010288" "30" "1774" "-13" "1774" "-13" "c.1774-13C>T" "r.(=)" "p.(=)" "" "" "0000281666" "00010288" "30" "1774" "-6" "1774" "-6" "c.1774-6C>T" "r.(=)" "p.(=)" "" "" "0000281667" "00010288" "50" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ser596Leu)" "" "" "0000281668" "00010288" "30" "1902" "0" "1902" "0" "c.1902G>T" "r.(?)" "p.(Leu634=)" "" "" "0000281669" "00010288" "30" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "" "" "0000281670" "00010288" "30" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Leu649=)" "" "" "0000281671" "00010288" "30" "2024" "0" "2024" "0" "c.2024A>G" "r.(?)" "p.(His675Arg)" "" "" "0000281672" "00010288" "30" "2087" "-18" "2087" "-18" "c.2087-18C>T" "r.(=)" "p.(=)" "" "" "0000281673" "00010288" "10" "2089" "0" "2089" "0" "c.2089A>T" "r.(?)" "p.(Met697Leu)" "" "" "0000281674" "00010288" "30" "2208" "0" "2208" "0" "c.2208G>A" "r.(?)" "p.(Pro736=)" "" "" "0000281675" "00010288" "30" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Asn112Ser)" "" "" "0000281676" "00010288" "10" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000281677" "00010288" "30" "486" "0" "486" "0" "c.486G>A" "r.(?)" "p.(Ala162=)" "" "" "0000281678" "00010288" "30" "589" "0" "589" "0" "c.589A>G" "r.(?)" "p.(Ser197Gly)" "" "" "0000281679" "00010288" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" "" "0000281680" "00010288" "30" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Gly218=)" "" "" "0000281681" "00010288" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Met)" "" "" "0000281682" "00010288" "50" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Ala260Thr)" "" "" "0000281683" "00010288" "50" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Lys283Asn)" "" "" "0000281684" "00010288" "30" "909" "6" "909" "6" "c.909+6C>T" "r.(=)" "p.(=)" "" "" "0000281685" "00010288" "30" "9" "0" "9" "0" "c.9G>C" "r.(?)" "p.(Val3=)" "" "" "0000285441" "00010288" "10" "2259" "0" "2259" "0" "c.*21C>A" "r.(=)" "p.(=)" "" "" "0000285442" "00010288" "30" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Ile)" "" "" "0000285443" "00010288" "10" "1653" "10" "1653" "10" "c.1653+10C>A" "r.(=)" "p.(=)" "" "" "0000285444" "00010288" "50" "1725" "0" "1725" "0" "c.1725G>T" "r.(?)" "p.(Met575Ile)" "" "" "0000285445" "00010288" "10" "1774" "-13" "1774" "-13" "c.1774-13C>T" "r.(=)" "p.(=)" "" "" "0000285446" "00010288" "50" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Cys)" "" "" "0000285447" "00010288" "30" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Ala647=)" "" "" "0000285448" "00010288" "10" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "" "" "0000285449" "00010288" "30" "208" "137" "208" "137" "c.208+137A>G" "r.(=)" "p.(=)" "" "" "0000285450" "00010288" "30" "2086" "13" "2086" "13" "c.2086+13C>T" "r.(=)" "p.(=)" "" "" "0000285451" "00010288" "10" "2089" "0" "2089" "0" "c.2089A>T" "r.(?)" "p.(Met697Leu)" "" "" "0000285452" "00010288" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "" "" "0000285453" "00010288" "10" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000285454" "00010288" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Arg142=)" "" "" "0000285455" "00010288" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Glu154Lys)" "" "" "0000285456" "00010288" "30" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Gly218=)" "" "" "0000285457" "00010288" "50" "807" "0" "807" "0" "c.807G>T" "r.(?)" "p.(Gly269=)" "" "" "0000285458" "00010288" "10" "867" "0" "867" "0" "c.867C>G" "r.(?)" "p.(Thr289=)" "" "" "0000285459" "00010288" "50" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Glu301Gly)" "" "" "0000285460" "00010288" "30" "909" "6" "909" "6" "c.909+6C>T" "r.(=)" "p.(=)" "" "" "0000289962" "00010288" "10" "2240" "0" "2240" "0" "c.*2C>T" "r.(=)" "p.(=)" "" "" "0000289963" "00010288" "10" "1159" "-13" "1159" "-13" "c.1159-13C>A" "r.(=)" "p.(=)" "" "" "0000289964" "00010288" "10" "1159" "-20" "1159" "-20" "c.1159-20G>A" "r.(=)" "p.(=)" "" "" "0000289965" "00010288" "30" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Ser391Asn)" "" "" "0000289966" "00010288" "50" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Val407Ile)" "" "" "0000289967" "00010288" "10" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(Leu408=)" "" "" "0000289968" "00010288" "50" "1355" "0" "1355" "0" "c.1355C>T" "r.(?)" "p.(Thr452Met)" "" "" "0000289969" "00010288" "50" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Ile)" "" "" "0000289970" "00010288" "50" "1469" "0" "1469" "0" "c.1469A>G" "r.(?)" "p.(Asn490Ser)" "" "" "0000289971" "00010288" "30" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(Ala521=)" "" "" "0000289972" "00010288" "10" "1653" "10" "1653" "10" "c.1653+10C>A" "r.(=)" "p.(=)" "" "" "0000289973" "00010288" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577His)" "" "" "0000289974" "00010288" "10" "1774" "-13" "1774" "-13" "c.1774-13C>T" "r.(=)" "p.(=)" "" "" "0000289975" "00010288" "10" "1774" "-6" "1774" "-6" "c.1774-6C>T" "r.(=)" "p.(=)" "" "" "0000289976" "00010288" "10" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "" "" "0000289977" "00010288" "50" "2021" "0" "2021" "0" "c.2021A>G" "r.(?)" "p.(Lys674Arg)" "" "" "0000289978" "00010288" "30" "2031" "0" "2031" "0" "c.2031G>A" "r.(?)" "p.(Pro677=)" "" "" "0000289979" "00010288" "10" "2047" "-14" "2047" "-14" "c.2047-14C>G" "r.(=)" "p.(=)" "" "" "0000289980" "00010288" "10" "2089" "0" "2089" "0" "c.2089A>T" "r.(?)" "p.(Met697Leu)" "" "" "0000289981" "00010288" "30" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Ala80Thr)" "" "" "0000289982" "00010288" "50" "250" "0" "250" "0" "c.250C>T" "r.(?)" "p.(Arg84Trp)" "" "" "0000289983" "00010288" "10" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000289984" "00010288" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Arg142=)" "" "" "0000289985" "00010288" "50" "502" "0" "502" "0" "c.502C>G" "r.(?)" "p.(Gln168Glu)" "" "" "0000289986" "00010288" "50" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Cys)" "" "" "0000289987" "00010288" "50" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Ser225=)" "" "" "0000289988" "00010288" "30" "708" "-10" "708" "-10" "c.708-10A>C" "r.(=)" "p.(=)" "" "" "0000289989" "00010288" "50" "708" "-2" "708" "-2" "c.708-2A>C" "r.spl?" "p.?" "" "" "0000289990" "00010288" "10" "708" "-4" "708" "-4" "c.708-4C>G" "r.spl?" "p.?" "" "" "0000289991" "00010288" "30" "738" "0" "738" "0" "c.738C>T" "r.(?)" "p.(Ala246=)" "" "" "0000289992" "00010288" "50" "849" "0" "849" "0" "c.849G>T" "r.(?)" "p.(Lys283Asn)" "" "" "0000289993" "00010288" "10" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Thr289=)" "" "" "0000289994" "00010288" "30" "909" "6" "909" "6" "c.909+6C>T" "r.(=)" "p.(=)" "" "" "0000325394" "00010288" "30" "2259" "0" "2259" "0" "c.*21C>A" "r.(=)" "p.(=)" "" "" "0000325395" "00010288" "50" "2257" "0" "2257" "0" "c.*19G>C" "r.(=)" "p.(=)" "" "" "0000325396" "00010288" "50" "2253" "0" "2253" "0" "c.*15G>T" "r.(=)" "p.(=)" "" "" "0000441393" "00010288" "15" "96" "0" "96" "0" "c.96C>T" "r.(?)" "p.(=)" "2" "N-terminus" "0000441394" "00010288" "11" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(=)" "3" "Armadillo 1" "0000441395" "00010288" "11" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(=)" "4" "" "0000441396" "00010288" "11" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(=)" "5" "Armadillo 3" "0000441397" "00010288" "11" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(=)" "5" "Armadillo 3" "0000441398" "00010288" "11" "909" "53" "909" "53" "c.909+53C>T" "r.(?)" "p.(=)" "5i" "" "0000441399" "00010288" "11" "1158" "33" "1158" "33" "c.1158+33C>T" "r.(?)" "p.(=)" "7i" "" "0000441400" "00010288" "11" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(=)" "8" "Armadillo 5" "0000441401" "00010288" "11" "1774" "-34" "1774" "-34" "c.1774-34C>A" "r.(?)" "p.(=)" "10i" "" "0000441402" "00010288" "11" "2047" "-4" "2047" "-4" "c.2047-4del" "r.(?)" "p.(=)" "12i" "" "0000441403" "00010288" "15" "2259" "0" "2259" "0" "c.*21C>A" "r.(?)" "p.(=)" "14" "" "0000441404" "00010288" "11" "-9" "19" "-9" "20" "c.-9+19_-9+20del" "r.(=)" "p.(=)" "1i" "" "0000441405" "00010288" "11" "468" "53" "468" "53" "c.468+53G>A" "r.(?)" "p.(=)" "3i" "" "0000441406" "00010288" "11" "1774" "-33" "1774" "-33" "c.1774-33del" "r.(?)" "p.(=)" "10i" "" "0000442000" "00010288" "11" "-88" "0" "-88" "0" "c.-88A>G" "r.(?)" "p.(=)" "1" "" "0000442001" "00010288" "99" "116" "0" "118" "0" "c.116_118dup" "r.(?)" "p.(Ser39dup)" "2" "N-terminus" "0000442002" "00010288" "11" "208" "18" "208" "19" "c.208+18_208+19del" "r.(?)" "p.(=)" "2i" "" "0000442003" "00010288" "11" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(=)" "3" "N-terminus" "0000442004" "00010288" "11" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "3" "Armadillo 1" "0000442005" "00010288" "11" "909" "17" "909" "17" "c.909+17T>C" "r.(?)" "p.(=)" "5i" "" "0000442006" "00010288" "11" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "12" "C-terminus" "0000442007" "00010288" "11" "2046" "22" "2046" "22" "c.2046+22A>G" "r.(?)" "p.(=)" "12i" "" "0000442008" "00010288" "11" "2089" "0" "2089" "0" "c.2089A>T" "r.(?)" "p.(Met697Leu)" "14" "C-terminus" "0000442009" "00010288" "55" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "3" "N-terminus" "0000442010" "00010288" "11" "1159" "-21" "1159" "-21" "c.1159-21C>T" "r.(?)" "p.(=)" "7i" "" "0000442011" "00010288" "55" "1359" "0" "1359" "0" "c.1359G>T" "r.(?)" "p.(Glu453Asp)" "8" "Armadillo 6" "0000442012" "00010288" "15" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(=)" "9" "Armadillo 8" "0000442013" "00010288" "99" "2040" "0" "2041" "0" "c.2040_2041del" "r.(?)" "p.(Trp680Glyfs*11)" "12" "C-terminus" "0000442014" "00010288" "95" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Leu)" "4" "Armadillo 1" "0000442015" "00010288" "99" "116" "0" "118" "0" "c.116_118dup" "r.(?)" "p.(Ser39dup)" "2" "N-terminus" "0000442016" "00010288" "95" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Ile)" "2" "N-terminus" "0000442017" "00010288" "55" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(=)" "3" "N-terminus" "0000442018" "00010288" "11" "469" "-48" "469" "-48" "c.469-48C>T" "r.(?)" "p.(=)" "3i" "" "0000442019" "00010288" "11" "1653" "10" "1653" "10" "c.1653+10C>A" "r.(?)" "p.(=)" "9i" "" "0000442020" "00010288" "11" "1773" "27" "1773" "27" "c.1773+27A>G" "r.(?)" "p.(=)" "10i" "" "0000442021" "00010288" "11" "1925" "-40" "1925" "-40" "c.1925-40del" "r.(?)" "p.(=)" "11i" "" "0000442022" "00010288" "11" "2047" "-14" "2047" "-14" "c.2047-14C>G" "r.(?)" "p.(=)" "12i" "" "0000442023" "00010288" "55" "2227" "0" "2227" "0" "c.2227T>A" "r.(?)" "p.(Met743Val)" "14" "C-terminus" "0000442024" "00010288" "97" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Ile131ThrfsTer29)" "3" "" "0000442025" "00010288" "95" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Leu)" "4" "Armadillo 1" "0000442026" "00010288" "55" "35" "0" "35" "0" "c.35A>G" "r.(?)" "p.(Lys12Arg)" "2" "" "0000442027" "00010288" "55" "71" "0" "71" "0" "c.71C>A" "r.(?)" "p.(Ser24*)" "2" "" "0000442028" "00010288" "55" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "3" "" "0000442029" "00010288" "55" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "3" "" "0000442030" "00010288" "55" "468" "0" "468" "0" "c.468G>A" "r.(?)" "p.(=)" "3" "" "0000442031" "00010288" "55" "708" "-4" "708" "-4" "c.708-4C>G" "r.spl?" "p.?" "3i" "" "0000442032" "00010288" "55" "708" "-4" "708" "-4" "c.708-4C>G" "r.spl?" "p.?" "3i" "" "0000442033" "00010288" "55" "469" "-8" "469" "-1" "c.469-8_469-1del" "r.spl" "p.?" "3i" "" "0000442034" "00010288" "55" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "4" "" "0000442035" "00010288" "55" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ser225Leu)" "4" "" "0000442036" "00010288" "55" "702" "0" "702" "0" "c.702G>T" "r.(?)" "p.(Met234Ile)" "4" "" "0000442037" "00010288" "55" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "5" "" "0000442038" "00010288" "55" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Tyr297Tyr)" "5" "" "0000442039" "00010288" "55" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Glu301Gly)" "5" "" "0000442040" "00010288" "55" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Val407Ile)" "8" "" "0000442041" "00010288" "55" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Thr427Met)" "8" "" "0000442042" "00010288" "55" "1296" "0" "1296" "0" "c.1296C>T" "r.(?)" "p.(=)" "8" "" "0000442043" "00010288" "55" "1408" "0" "1408" "0" "c.1408G>A" "r.(?)" "p.(Glu470Lys)" "8" "" "0000442044" "00010288" "55" "1498" "-27" "1498" "-27" "c.1498-27C>G" "r.(?)" "p.(=)" "8i" "" "0000442045" "00010288" "55" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Trp)" "10" "" "0000442046" "00010288" "55" "1773" "57" "1773" "57" "c.1773+57G>C" "r.(?)" "p.(=)" "10i" "" "0000442047" "00010288" "55" "1774" "-13" "1774" "-13" "c.1774-13C>T" "r.(?)" "p.(=)" "10i" "" "0000442048" "00010288" "55" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Val603Leu)" "11" "" "0000442049" "00010288" "55" "2078" "0" "2078" "0" "c.2078A>G" "r.(?)" "p.(Tyr693Cys)" "13" "" "0000442050" "00010288" "55" "2112" "0" "2112" "0" "c.2112G>A" "r.(?)" "p.(Met704Ile)" "14" "" "0000442051" "00010288" "55" "2178" "0" "2178" "0" "c.2178C>T" "r.(?)" "p.(Ile726=)" "14" "" "0000442052" "00010288" "55" "152" "0" "152" "0" "c.152G>A" "r.(?)" "p.(Arg51His)" "2" "N-terminus" "0000561334" "00010288" "30" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Pro736Leu)" "" "" "0000561335" "00010288" "50" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Pro736Leu)" "" "" "0000561336" "00010288" "30" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Pro736Leu)" "" "" "0000561337" "00010288" "30" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Asp708Asn)" "" "" "0000561338" "00010288" "10" "2089" "0" "2089" "0" "c.2089A>T" "r.(?)" "p.(Met697Leu)" "" "" "0000561339" "00010288" "10" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "" "0000561340" "00010288" "30" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "" "0000561342" "00010288" "50" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "" "0000561343" "00010288" "30" "2069" "0" "2069" "0" "c.2069A>G" "r.(?)" "p.(Asn690Ser)" "" "" "0000561344" "00010288" "10" "2046" "22" "2046" "22" "c.2046+22A>G" "r.(=)" "p.(=)" "" "" "0000561345" "00010288" "50" "2046" "2" "2046" "3" "c.2046+2_2046+3del" "r.spl?" "p.?" "" "" "0000561346" "00010288" "30" "2025" "0" "2025" "0" "c.2025T>C" "r.(?)" "p.(His675=)" "" "" "0000561347" "00010288" "10" "2024" "0" "2024" "0" "c.2024A>G" "r.(?)" "p.(His675Arg)" "" "" "0000561348" "00010288" "50" "2024" "0" "2024" "0" "c.2024A>G" "r.(?)" "p.(His675Arg)" "" "" "0000561349" "00010288" "30" "2024" "0" "2024" "0" "c.2024A>G" "r.(?)" "p.(His675Arg)" "" "" "0000561350" "00010288" "50" "2021" "0" "2021" "0" "c.2021A>G" "r.(?)" "p.(Lys674Arg)" "" "" "0000561351" "00010288" "30" "1995" "0" "1995" "0" "c.1995C>T" "r.(?)" "p.(Ser665=)" "" "" "0000561352" "00010288" "50" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661Gln)" "" "" "0000561353" "00010288" "30" "1981" "0" "1981" "0" "c.1981C>T" "r.(?)" "p.(Arg661Trp)" "" "" "0000561354" "00010288" "30" "1959" "0" "1959" "0" "c.1959C>T" "r.(?)" "p.(Ser653=)" "" "" "0000561355" "00010288" "10" "1925" "-19" "1925" "-19" "c.1925-19T>G" "r.(=)" "p.(=)" "" "" "0000561356" "00010288" "30" "1925" "-19" "1925" "-19" "c.1925-19T>G" "r.(=)" "p.(=)" "" "" "0000561357" "00010288" "30" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Arg637His)" "" "" "0000561358" "00010288" "50" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Arg637Cys)" "" "" "0000561359" "00010288" "10" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Val603Leu)" "" "" "0000561360" "00010288" "50" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Val603Leu)" "" "" "0000561362" "00010288" "10" "1774" "-8" "1774" "-8" "c.1774-8C>T" "r.(=)" "p.(=)" "" "" "0000561363" "00010288" "10" "1774" "-13" "1774" "-13" "c.1774-13C>T" "r.(=)" "p.(=)" "" "" "0000561364" "00010288" "10" "1774" "-34" "1774" "-34" "c.1774-34C>A" "r.(=)" "p.(=)" "" "" "0000561366" "00010288" "30" "1713" "0" "1713" "0" "c.1713C>G" "r.(?)" "p.(Ala571=)" "" "" "0000561367" "00010288" "30" "1677" "0" "1677" "0" "c.1677T>C" "r.(?)" "p.(Ile559=)" "" "" "0000561368" "00010288" "30" "1654" "-17" "1654" "-17" "c.1654-17del" "r.(=)" "p.(=)" "" "" "0000561369" "00010288" "10" "1653" "18" "1653" "18" "c.1653+18G>A" "r.(=)" "p.(=)" "" "" "0000561370" "00010288" "30" "1653" "10" "1653" "10" "c.1653+10C>A" "r.(=)" "p.(=)" "" "" "0000561371" "00010288" "50" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Val528Ile)" "" "" "0000561372" "00010288" "30" "1582" "0" "1582" "0" "c.1582G>A" "r.(?)" "p.(Val528Ile)" "" "" "0000561373" "00010288" "10" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(Ala521=)" "" "" "0000561374" "00010288" "30" "1551" "0" "1551" "0" "c.1551G>A" "r.(?)" "p.(Pro517=)" "" "" "0000561375" "00010288" "10" "1377" "0" "1377" "0" "c.1377G>T" "r.(?)" "p.(Leu459=)" "" "" "0000561376" "00010288" "10" "1377" "0" "1377" "0" "c.1377G>T" "r.(?)" "p.(Leu459=)" "" "" "0000561377" "00010288" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Cys457=)" "" "" "0000561378" "00010288" "30" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Ile)" "" "" "0000561379" "00010288" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Pro454Ser)" "" "" "0000561381" "00010288" "50" "1308" "0" "1308" "0" "c.1308G>T" "r.(?)" "p.(Glu436Asp)" "" "" "0000561382" "00010288" "10" "1224" "0" "1224" "0" "c.1224C>T" "r.(?)" "p.(Leu408=)" "" "" "0000561383" "00010288" "50" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Val407Ile)" "" "" "0000561384" "00010288" "30" "1159" "-20" "1159" "-20" "c.1159-20G>A" "r.(=)" "p.(=)" "" "" "0000561385" "00010288" "10" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(Thr362=)" "" "" "0000561386" "00010288" "50" "950" "0" "950" "0" "c.950A>C" "r.(?)" "p.(Gln317Pro)" "" "" "0000561387" "00010288" "50" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "" "0000561388" "00010288" "10" "909" "17" "909" "17" "c.909+17T>C" "r.(=)" "p.(=)" "" "" "0000561389" "00010288" "10" "909" "6" "909" "6" "c.909+6C>T" "r.(=)" "p.(=)" "" "" "0000561390" "00010288" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Thr289=)" "" "" "0000561391" "00010288" "30" "807" "0" "807" "0" "c.807G>T" "r.(?)" "p.(Gly269=)" "" "" "0000561392" "00010288" "10" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Ala267=)" "" "" "0000561393" "00010288" "10" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Gly259=)" "" "" "0000561394" "00010288" "10" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Gly259=)" "" "" "0000561395" "00010288" "50" "748" "0" "748" "0" "c.748C>T" "r.(?)" "p.(Leu250=)" "" "" "0000561396" "00010288" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Met)" "" "" "0000561399" "00010288" "30" "694" "0" "694" "0" "c.694G>A" "r.(?)" "p.(Val232Ile)" "" "" "0000561400" "00010288" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ser225Leu)" "" "" "0000561401" "00010288" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216Gln)" "" "" "0000561402" "00010288" "50" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Asn211Lys)" "" "" "0000561403" "00010288" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(His210Tyr)" "" "" "0000561404" "00010288" "10" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Ser182=)" "" "" "0000561405" "00010288" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Ser182=)" "" "" "0000561406" "00010288" "30" "546" "0" "546" "0" "c.546G>A" "r.(?)" "p.(Ser182=)" "" "" "0000561407" "00010288" "30" "545" "0" "545" "0" "c.545C>T" "r.(?)" "p.(Ser182Leu)" "" "" "0000561408" "00010288" "10" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177Gln)" "" "" "0000561409" "00010288" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ala174Val)" "" "" "0000561410" "00010288" "30" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(Ser170=)" "" "" "0000561411" "00010288" "50" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Leu)" "" "" "0000561412" "00010288" "30" "468" "7" "468" "7" "c.468+7G>A" "r.(=)" "p.(=)" "" "" "0000561413" "00010288" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Glu154Lys)" "" "" "0000561414" "00010288" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asp153=)" "" "" "0000561415" "00010288" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Arg142=)" "" "" "0000561416" "00010288" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000561417" "00010288" "10" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000561418" "00010288" "10" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Asp135=)" "" "" "0000561419" "00010288" "10" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Asp135=)" "" "" "0000561420" "00010288" "10" "405" "0" "405" "0" "c.405C>T" "r.(?)" "p.(Asp135=)" "" "" "0000561421" "00010288" "50" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Asn132=)" "" "" "0000561422" "00010288" "30" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(Asn112Ser)" "" "" "0000561423" "00010288" "30" "312" "0" "312" "0" "c.312C>G" "r.(?)" "p.(Thr104=)" "" "" "0000561424" "00010288" "30" "312" "0" "312" "0" "c.312C>G" "r.(?)" "p.(Thr104=)" "" "" "0000561425" "00010288" "10" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ser99=)" "" "" "0000561426" "00010288" "30" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ser99=)" "" "" "0000561427" "00010288" "30" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ser99=)" "" "" "0000561428" "00010288" "30" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ser99=)" "" "" "0000561429" "00010288" "30" "297" "0" "297" "0" "c.297G>A" "r.(?)" "p.(Ser99=)" "" "" "0000561430" "00010288" "50" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ser99Leu)" "" "" "0000561431" "00010288" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Asp97=)" "" "" "0000561432" "00010288" "50" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "" "0000561433" "00010288" "10" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(Asp71=)" "" "" "0000561434" "00010288" "50" "209" "-3" "209" "-3" "c.209-3del" "r.spl?" "p.?" "" "" "0000561435" "00010288" "30" "209" "-3" "209" "-3" "c.209-3del" "r.spl?" "p.?" "" "" "0000561436" "00010288" "30" "159" "0" "159" "0" "c.159C>T" "r.(?)" "p.(Tyr53=)" "" "" "0000561437" "00010288" "50" "116" "0" "118" "0" "c.116_118dup" "r.(?)" "p.(Ser39dup)" "" "" "0000561438" "00010288" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Ile)" "" "" "0000616513" "00010288" "30" "2259" "0" "2259" "0" "c.*21C>A" "r.(=)" "p.(=)" "" "" "0000616514" "00010288" "10" "2163" "0" "2163" "0" "c.2163T>C" "r.(?)" "p.(Asp721=)" "" "" "0000616515" "00010288" "30" "2059" "0" "2059" "0" "c.2059A>G" "r.(?)" "p.(Ile687Val)" "" "" "0000616516" "00010288" "30" "2031" "0" "2031" "0" "c.2031G>A" "r.(?)" "p.(Pro677=)" "" "" "0000616517" "00010288" "50" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Arg663His)" "" "" "0000616518" "00010288" "30" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "" "" "0000616519" "00010288" "10" "1942" "0" "1942" "0" "c.1942G>A" "r.(?)" "p.(Val648Ile)" "" "" "0000616521" "00010288" "50" "1790" "0" "1790" "0" "c.1790T>G" "r.(?)" "p.(Val597Gly)" "" "" "0000616522" "00010288" "50" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Met556Thr)" "" "" "0000616523" "00010288" "30" "1666" "0" "1666" "0" "c.1666A>G" "r.(?)" "p.(Met556Val)" "" "" "0000616524" "00010288" "30" "1651" "0" "1651" "0" "c.1651A>C" "r.(?)" "p.(Thr551Pro)" "" "" "0000616525" "00010288" "30" "1624" "0" "1624" "0" "c.1624G>A" "r.(?)" "p.(Val542Ile)" "" "" "0000616526" "00010288" "50" "1435" "0" "1435" "0" "c.1435A>T" "r.(?)" "p.(Asn479Tyr)" "" "" "0000616527" "00010288" "10" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(Ala455=)" "" "" "0000616528" "00010288" "50" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Val407Ile)" "" "" "0000616529" "00010288" "30" "1170" "0" "1170" "0" "c.1170G>T" "r.(?)" "p.(Glu390Asp)" "" "" "0000616530" "00010288" "50" "1112" "0" "1112" "0" "c.1112A>C" "r.(?)" "p.(Asn371Thr)" "" "" "0000616531" "00010288" "30" "1096" "0" "1096" "0" "c.1096C>A" "r.(?)" "p.(Pro366Thr)" "" "" "0000616532" "00010288" "30" "1054" "7" "1054" "7" "c.1054+7A>T" "r.(=)" "p.(=)" "" "" "0000616533" "00010288" "30" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Ser343Asn)" "" "" "0000616534" "00010288" "30" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "" "" "0000616535" "00010288" "50" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Leu270Arg)" "" "" "0000616536" "00010288" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Ala263=)" "" "" "0000616537" "00010288" "10" "777" "0" "777" "0" "c.777C>T" "r.(?)" "p.(Gly259=)" "" "" "0000616538" "00010288" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Gly227Asp)" "" "" "0000616539" "00010288" "50" "633" "0" "633" "0" "c.633C>A" "r.(?)" "p.(Asn211Lys)" "" "" "0000616540" "00010288" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Trp)" "" "" "0000623667" "00010288" "50" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Pro677Leu)" "" "" "0000623668" "00010288" "10" "2025" "0" "2025" "0" "c.2025T>C" "r.(?)" "p.(His675=)" "" "" "0000623669" "00010288" "50" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Cys)" "" "" "0000623670" "00010288" "50" "1550" "0" "1550" "0" "c.1550C>T" "r.(?)" "p.(Pro517Leu)" "" "" "0000623671" "00010288" "30" "807" "0" "807" "0" "c.807G>T" "r.(?)" "p.(Gly269=)" "" "" "0000623672" "00010288" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Ala187=)" "" "" "0000623673" "00010288" "50" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177Gln)" "" "" "0000649560" "00010288" "30" "1807" "0" "1807" "0" "c.1807G>T" "r.(?)" "p.(Val603Leu)" "" "" "0000649561" "00010288" "50" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "" "0000649562" "00010288" "10" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176Gln)" "" "" "0000649563" "00010288" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000658103" "00010288" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577His)" "" "" "0000658104" "00010288" "30" "1365" "0" "1365" "0" "c.1365C>T" "r.(?)" "p.(Ala455=)" "" "" "0000658105" "00010288" "10" "807" "0" "807" "0" "c.807G>T" "r.(?)" "p.(Gly269=)" "" "" "0000658106" "00010288" "50" "638" "0" "638" "0" "c.638C>T" "r.(?)" "p.(Ser213Phe)" "" "" "0000658107" "00010288" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Ser125Leu)" "" "" "0000658108" "00010288" "50" "209" "-3" "209" "-3" "c.209-3del" "r.spl?" "p.?" "" "" "0000669392" "00010288" "30" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" "" "" "0000680842" "00010288" "30" "2178" "0" "2178" "0" "c.2178C>T" "r.(?)" "p.(Ile726=)" "" "" "0000680843" "00010288" "10" "1902" "0" "1902" "0" "c.1902G>T" "r.(?)" "p.(Leu634=)" "" "" "0000680844" "00010288" "50" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Ala458Thr)" "" "" "0000680845" "00010288" "50" "1246" "0" "1247" "0" "c.1246_1247del" "r.(?)" "p.(Ser416GlnfsTer31)" "" "" "0000680846" "00010288" "50" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "" "0000680847" "00010288" "30" "801" "0" "801" "0" "c.801C>T" "r.(?)" "p.(Ala267=)" "" "" "0000680848" "00010288" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Ser225Leu)" "" "" "0000680849" "00010288" "50" "562" "0" "562" "0" "c.562G>A" "r.(?)" "p.(Ala188Thr)" "" "" "0000680850" "00010288" "50" "551" "0" "551" "0" "c.551A>C" "r.(?)" "p.(Gln184Pro)" "" "" "0000680851" "00010288" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Asp153=)" "" "" "0000680852" "00010288" "30" "375" "0" "375" "0" "c.375G>A" "r.(?)" "p.(Ser125=)" "" "" "0000692330" "00010288" "30" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Pro736Leu)" "" "" "0000692331" "00010288" "10" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Ala522=)" "" "" "0000692332" "00010288" "50" "905" "0" "905" "0" "c.905G>A" "r.(?)" "p.(Ser302Asn)" "" "" "0000700638" "00010288" "50" "578" "0" "578" "0" "c.578T>C" "r.(?)" "p.(Met193Thr)" "" "" "0000700639" "00010288" "50" "1129" "0" "1129" "0" "c.1129C>A" "r.(?)" "p.(Arg377Ser)" "" "" "0000700812" "00010288" "50" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Arg84Gln)" "" "" "0000700813" "00010288" "50" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ser99Leu)" "" "" "0000700814" "00010288" "50" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Glu138Lys)" "" "" "0000700815" "00010288" "50" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Arg177Trp)" "" "" "0000700816" "00010288" "50" "530" "0" "530" "0" "c.530G>A" "r.(?)" "p.(Arg177Gln)" "" "" "0000700817" "00010288" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526His)" "" "" "0000700818" "00010288" "50" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572Gln)" "" "" "0000700819" "00010288" "50" "1915" "0" "1915" "0" "c.1915G>A" "r.(?)" "p.(Glu639Lys)" "" "" "0000726336" "00010288" "50" "1982" "0" "1982" "0" "c.1982G>A" "r.(?)" "p.(Arg661Gln)" "" "" "0000726337" "00010288" "50" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Met556Thr)" "" "" "0000726338" "00010288" "30" "1622" "0" "1622" "0" "c.1622A>T" "r.(?)" "p.(His541Leu)" "" "" "0000726339" "00010288" "10" "1563" "0" "1563" "0" "c.1563A>G" "r.(?)" "p.(Ala521=)" "" "" "0000726340" "00010288" "50" "1258" "0" "1258" "0" "c.1258T>C" "r.(?)" "p.(Cys420Arg)" "" "" "0000726341" "00010288" "30" "469" "-16" "469" "-16" "c.469-16del" "r.(=)" "p.(=)" "" "" "0000726342" "00010288" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Ala143Thr)" "" "" "0000726343" "00010288" "30" "-2" "0" "-2" "0" "c.-2C>T" "r.(?)" "p.(=)" "" "" "0000807943" "00010288" "50" "2194" "0" "2194" "0" "c.2194G>T" "r.(?)" "p.(Gly732Cys)" "" "" "0000807944" "00010288" "30" "1945" "0" "1945" "0" "c.1945C>T" "r.(?)" "p.(Leu649=)" "" "" "0000807945" "00010288" "10" "1924" "12" "1924" "12" "c.1924+12del" "r.(=)" "p.(=)" "" "" "0000807946" "00010288" "30" "1774" "-6" "1774" "-6" "c.1774-6C>T" "r.(=)" "p.(=)" "" "" "0000807947" "00010288" "10" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Ser391Asn)" "" "" "0000807948" "00010288" "10" "708" "-19" "708" "-19" "c.708-19C>T" "r.(=)" "p.(=)" "" "" "0000807949" "00010288" "10" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Gly218=)" "" "" "0000807950" "00010288" "30" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(Val189=)" "" "" "0000807951" "00010288" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Ala162Val)" "" "" "0000807952" "00010288" "50" "475" "0" "475" "0" "c.475G>T" "r.(?)" "p.(Val159Leu)" "" "" "0000807953" "00010288" "50" "161" "0" "161" "0" "c.161C>T" "r.(?)" "p.(Thr54Met)" "" "" "0000807954" "00010288" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Ile)" "" "" "0000854865" "00010288" "30" "2203" "0" "2203" "0" "c.2203C>T" "r.(?)" "p.(Pro735Ser)" "" "" "0000854866" "00010288" "50" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Pro710Ser)" "" "" "0000854867" "00010288" "30" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Arg702His)" "" "" "0000854868" "00010288" "30" "1774" "-6" "1774" "-6" "c.1774-6C>T" "r.(=)" "p.(=)" "" "" "0000854869" "00010288" "10" "1452" "0" "1452" "0" "c.1452C>T" "r.(?)" "p.(Ala484=)" "" "" "0000854870" "00010288" "30" "1278" "0" "1278" "0" "c.1278G>A" "r.(?)" "p.(Lys426=)" "" "" "0000854871" "00010288" "30" "1096" "0" "1096" "0" "c.1096C>G" "r.(?)" "p.(Pro366Ala)" "" "" "0000854872" "00010288" "30" "959" "0" "959" "0" "c.959G>A" "r.(?)" "p.(Arg320His)" "" "" "0000854873" "00010288" "50" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(Arg320Cys)" "" "" "0000854874" "00010288" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "" "" "0000854875" "00010288" "50" "818" "0" "818" "0" "c.818T>C" "r.(?)" "p.(Met273Thr)" "" "" "0000854876" "00010288" "30" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(Leu270=)" "" "" "0000854877" "00010288" "50" "708" "-12" "708" "-12" "c.708-12C>G" "r.(=)" "p.(=)" "" "" "0000854878" "00010288" "50" "294" "0" "294" "0" "c.294C>G" "r.(?)" "p.(Ser98Arg)" "" "" "0000854879" "00010288" "50" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Ser24Leu)" "" "" "0000865205" "00010288" "10" "1959" "0" "1959" "0" "c.1959C>T" "r.(?)" "p.(Ser653=)" "" "" "0000865206" "00010288" "50" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Arg540His)" "" "" "0000865207" "00010288" "50" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Gly503Ser)" "" "" "0000865208" "00010288" "50" "1096" "0" "1096" "0" "c.1096C>A" "r.(?)" "p.(Pro366Thr)" "" "" "0000865209" "00010288" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "" "" "0000865210" "00010288" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "" "0000865211" "00010288" "10" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Thr54=)" "" "" "0000893529" "00010288" "10" "2256" "0" "2256" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "" "0000893530" "00010288" "50" "2256" "0" "2256" "0" "c.*18C>G" "r.(=)" "p.(=)" "" "" "0000893531" "00010288" "50" "2122" "0" "2122" "0" "c.2122G>A" "r.(?)" "p.(Asp708Asn)" "" "" "0000893532" "00010288" "50" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Arg582Gln)" "" "" "0000893533" "00010288" "70" "1729" "0" "1729" "0" "c.1729C>T" "r.(?)" "p.(Arg577Cys)" "" "" "0000893534" "00010288" "50" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465His)" "" "" "0000893535" "00010288" "30" "1366" "0" "1366" "0" "c.1366G>A" "r.(?)" "p.(Val456Ile)" "" "" "0000893536" "00010288" "50" "1359" "0" "1359" "0" "c.1359G>T" "r.(?)" "p.(Glu453Asp)" "" "" "0000893537" "00010288" "50" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "" "" "0000893538" "00010288" "30" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Ser391Asn)" "" "" "0000893539" "00010288" "10" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(Thr289=)" "" "" "0000893540" "00010288" "50" "568" "0" "568" "0" "c.568G>C" "r.(?)" "p.(Val190Leu)" "" "" "0000893541" "00010288" "50" "406" "0" "406" "0" "c.406G>A" "r.(?)" "p.(Asp136Asn)" "" "" "0000893542" "00010288" "10" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Leu116=)" "" "" "0000893543" "00010288" "30" "252" "0" "252" "0" "c.252G>A" "r.(?)" "p.(Arg84=)" "" "" "0000893544" "00010288" "50" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Thr79Ile)" "" "" "0000893545" "00010288" "30" "209" "-7" "209" "-7" "c.209-7C>A" "r.(=)" "p.(=)" "" "" "0000893546" "00010288" "70" "116" "0" "118" "0" "c.116_118dup" "r.(?)" "p.(Ser39dup)" "" "" "0000893547" "00010288" "50" "35" "0" "35" "0" "c.35A>G" "r.(?)" "p.(Lys12Arg)" "" "" "0000914804" "00010288" "50" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "" "" "0000914805" "00010288" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Thr249Met)" "" "" "0000914806" "00010288" "50" "257" "0" "257" "0" "c.257G>A" "r.(?)" "p.(Arg86Gln)" "" "" "0000926464" "00010288" "10" "2256" "0" "2256" "0" "c.*18C>G" "r.(=)" "p.(=)" "" "" "0000926465" "00010288" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Cys)" "" "" "0000926466" "00010288" "50" "1730" "0" "1730" "0" "c.1730G>A" "r.(?)" "p.(Arg577His)" "" "" "0000926467" "00010288" "10" "1654" "-7" "1654" "-7" "c.1654-7C>T" "r.(=)" "p.(=)" "" "" "0000926468" "00010288" "50" "1597" "0" "1597" "0" "c.1597A>G" "r.(?)" "p.(Lys533Glu)" "" "" "0000926469" "00010288" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Glu118Lys)" "" "" "0000926470" "00010288" "30" "-9" "4" "-9" "4" "c.-9+4C>G" "r.spl?" "p.?" "" "" "0000930748" "00010288" "50" "1372" "0" "1372" "0" "c.1372G>A" "r.(?)" "p.(Ala458Thr)" "" "" "0000930749" "00010288" "30" "1212" "0" "1212" "0" "c.1212C>T" "r.(?)" "p.(=)" "" "" "0000930750" "00010288" "10" "999" "0" "999" "0" "c.999T>C" "r.(?)" "p.(=)" "" "" "0000930751" "00010288" "10" "804" "0" "804" "0" "c.804C>T" "r.(?)" "p.(=)" "" "" "0000930752" "00010288" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(His210Tyr)" "" "" "0000930753" "00010288" "10" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(Arg142=)" "" "" "0000950857" "00010288" "50" "2207" "0" "2207" "0" "c.2207C>T" "r.(?)" "p.(Pro736Leu)" "" "" "0000950858" "00010288" "50" "2138" "0" "2138" "0" "c.2138C>T" "r.(?)" "p.(Pro713Leu)" "" "" "0000950859" "00010288" "50" "2128" "0" "2128" "0" "c.2128C>T" "r.(?)" "p.(Pro710Ser)" "" "" "0000950860" "00010288" "10" "1878" "0" "1878" "0" "c.1878C>T" "r.(?)" "p.(=)" "" "" "0000950861" "00010288" "50" "950" "0" "950" "0" "c.950A>T" "r.(?)" "p.(Gln317Leu)" "" "" "0000950862" "00010288" "30" "708" "-4" "708" "-4" "c.708-4C>G" "r.spl?" "p.?" "" "" "0000950863" "00010288" "50" "469" "-8" "469" "-1" "c.469-8_469-1del" "r.spl?" "p.?" "" "" "0000950864" "00010288" "30" "209" "-14" "209" "-14" "c.209-14C>A" "r.(=)" "p.(=)" "" "" "0000950865" "00010288" "30" "84" "0" "84" "0" "c.84G>A" "r.(?)" "p.(=)" "" "" "0000957935" "00010288" "50" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Arg233Cys)" "" "" "0000968866" "00010288" "10" "1623" "0" "1623" "0" "c.1623C>T" "r.(?)" "p.(=)" "" "" "0000968867" "00010288" "50" "1438" "0" "1438" "0" "c.1438T>C" "r.(?)" "p.(Tyr480His)" "" "" "0000968868" "00010288" "50" "1388" "0" "1388" "0" "c.1388C>G" "r.(?)" "p.(Thr463Ser)" "" "" "0000968869" "00010288" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" "" "0000968870" "00010288" "30" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(=)" "" "" "0000982469" "00010288" "50" "2105" "0" "2105" "0" "c.2105G>A" "r.(?)" "p.(Arg702His)" "" "" "0000982470" "00010288" "50" "1988" "0" "1988" "0" "c.1988G>A" "r.(?)" "p.(Arg663His)" "" "" "0000982471" "00010288" "30" "909" "6" "909" "6" "c.909+6C>T" "r.(=)" "p.(=)" "" "" "0000982472" "00010288" "10" "693" "0" "693" "0" "c.693G>T" "r.(?)" "p.(=)" "" "" "0000989667" "00010288" "50" "1258" "0" "1258" "0" "c.1258T>C" "r.(?)" "p.(Cys420Arg)" "" "" "0000989698" "00010288" "50" "1217" "0" "1217" "0" "c.1217A>G" "r.(?)" "p.(Asn406Ser)" "" "" "0000989699" "00010288" "50" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Asn299Ser)" "" "" "0001003207" "00010288" "50" "2086" "0" "2086" "0" "c.2086G>A" "r.(?)" "p.(Asp696Asn)" "" "" "0001003208" "00010288" "50" "1725" "0" "1725" "0" "c.1725G>T" "r.(?)" "p.(Met575Ile)" "" "" "0001003209" "00010288" "50" "1652" "0" "1652" "0" "c.1652C>T" "r.(?)" "p.(Thr551Met)" "" "" "0001003210" "00010288" "30" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Ser225=)" "" "" "0001007517" "00010288" "70" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Ala347Thr)" "" "" "0001007553" "00010288" "70" "916" "0" "916" "0" "c.916del" "r.(?)" "p.(Ile306SerfsTer56)" "" "" "0001015518" "00010288" "50" "2194" "0" "2194" "0" "c.2194G>T" "r.(?)" "p.(Gly732Cys)" "" "" "0001015519" "00010288" "10" "2055" "0" "2055" "0" "c.2055C>T" "r.(?)" "p.(=)" "" "" "0001015520" "00010288" "50" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Arg582Trp)" "" "" "0001015521" "00010288" "10" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Cys457=)" "" "" "0001015522" "00010288" "50" "950" "0" "950" "0" "c.950A>C" "r.(?)" "p.(Gln317Pro)" "" "" "0001015523" "00010288" "50" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Gly227Asp)" "" "" "0001015524" "00010288" "50" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "" "0001015525" "00010288" "70" "208" "1" "208" "1" "c.208+1G>A" "r.spl?" "p.?" "" "" "0001015526" "00010288" "10" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(=)" "" "" "0001026878" "00010288" "50" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "" "0001026879" "00010288" "50" "926" "0" "926" "0" "c.926A>G" "r.(?)" "p.(Asn309Ser)" "" "" "0001026880" "00010288" "50" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Gly298Ser)" "" "" "0001026881" "00010288" "50" "818" "0" "818" "0" "c.818T>C" "r.(?)" "p.(Met273Thr)" "" "" "0001026882" "00010288" "30" "708" "-4" "708" "-4" "c.708-4C>G" "r.spl?" "p.?" "" "" "0001026883" "00010288" "50" "506" "0" "506" "0" "c.506T>C" "r.(?)" "p.(Leu169Pro)" "" "" "0001026884" "00010288" "30" "209" "-11" "209" "-11" "c.209-11A>G" "r.(=)" "p.(=)" "" "" "0001026885" "00010288" "50" "25" "0" "25" "0" "c.25C>G" "r.(?)" "p.(Gln9Glu)" "" "" "0001041825" "00010288" "50" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "" "" "0001041826" "00010288" "50" "204" "0" "204" "0" "c.204C>A" "r.(?)" "p.(Ser68Arg)" "" "" "0001046623" "00010288" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Gly92Ser)" "" "" "0001060403" "00010288" "50" "628" "0" "628" "0" "c.628C>T" "r.(?)" "p.(His210Tyr)" "" "" "0001060404" "00010288" "50" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "" "" "0001066730" "00010288" "50" "1910" "0" "1910" "0" "c.1910G>A" "r.(?)" "p.(Arg637His)" "" "" "0001066731" "00010288" "50" "1658" "0" "1658" "0" "c.1658G>A" "r.(?)" "p.(Gly553Asp)" "" "" "0001066732" "00010288" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Leu408Phe)" "" "" "0001066733" "00010288" "50" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" "" "0001066734" "00010288" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ala187Val)" "" "" "0001066735" "00010288" "50" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Ala110Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 96 "{{screeningid}}" "{{variantid}}" "0000016267" "0000036016" "0000016268" "0000036017" "0000029021" "0000052361" "0000064266" "0000095437" "0000064311" "0000095592" "0000064406" "0000095798" "0000101898" "0000164640" "0000103123" "0000166214" "0000103124" "0000166215" "0000103125" "0000166216" "0000103126" "0000166217" "0000103127" "0000166218" "0000103128" "0000166219" "0000103129" "0000166220" "0000103130" "0000166221" "0000103131" "0000166222" "0000103132" "0000166223" "0000103133" "0000166224" "0000103134" "0000166225" "0000103135" "0000166226" "0000129231" "0000218370" "0000144628" "0000235437" "0000210143" "0000442052" "0000210624" "0000442000" "0000210625" "0000442001" "0000210626" "0000442002" "0000210627" "0000442003" "0000210628" "0000442004" "0000210629" "0000442005" "0000210630" "0000442006" "0000210631" "0000442007" "0000210632" "0000442008" "0000210633" "0000442009" "0000210634" "0000442010" "0000210635" "0000442011" "0000210636" "0000442012" "0000210637" "0000442013" "0000210638" "0000442014" "0000210639" "0000442015" "0000210640" "0000442016" "0000210641" "0000442017" "0000210642" "0000442018" "0000210643" "0000442019" "0000210644" "0000442020" "0000210645" "0000442021" "0000210646" "0000442022" "0000210647" "0000442023" "0000210648" "0000442024" "0000210649" "0000442025" "0000210650" "0000442026" "0000210651" "0000442027" "0000210652" "0000442028" "0000210653" "0000442029" "0000210654" "0000442030" "0000210655" "0000442031" "0000210656" "0000442032" "0000210657" "0000442033" "0000210658" "0000442034" "0000210659" "0000442035" "0000210660" "0000442036" "0000210661" "0000442037" "0000210662" "0000442038" "0000210663" "0000442039" "0000210664" "0000442040" "0000210665" "0000442041" "0000210666" "0000442042" "0000210667" "0000442043" "0000210668" "0000442044" "0000210669" "0000442045" "0000210670" "0000442046" "0000210671" "0000442047" "0000210672" "0000442048" "0000210673" "0000442049" "0000210674" "0000442050" "0000210675" "0000442051" "0000292871" "0000649560" "0000292872" "0000649561" "0000292873" "0000649562" "0000292874" "0000649563" "0000305704" "0000669392" "0000318032" "0000700638" "0000318033" "0000700639" "0000318206" "0000700812" "0000318207" "0000700813" "0000318208" "0000700814" "0000318209" "0000700815" "0000318210" "0000700816" "0000318211" "0000700817" "0000318212" "0000700818" "0000318213" "0000700819" "0000448420" "0000957935" "0000454766" "0000989667" "0000454797" "0000989698" "0000454798" "0000989699" "0000455385" "0001007553" "0000455410" "0001007517"