### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRSS1) # 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}}" "PRSS1" "protease, serine, 1 (trypsin 1)" "7" "q34" "unknown" "LRG_1013" "UD_132084473388" "" "https://www.LOVD.nl/PRSS1" "" "1" "9475" "5644" "276000" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PRSS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-28 11:54:30" "00006" "2025-11-13 13:04:16" ## 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}}" "00016957" "PRSS1" "protease, serine, 1 (trypsin 1)" "001" "NM_002769.4" "" "NP_002760.1" "" "" "" "-17" "800" "744" "142457319" "142460927" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00130" "PCTT" "pancreatitis" "AD" "167800" "" "" "" "00006" "2013-05-14 09:29:20" "00006" "2025-09-05 16:49:18" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00681" "cancer, pancreatic" "cancer, pancreatic" "" "260350" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-08-28 08:24:29" "03790" "COXPD11" "combined oxidative phosphorylation deficiency, type 11 (COXPD-11)" "AR" "614922" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04296" "MINAS" "neoplasia, multiple inherited alleles (MINAS)" "AD;AR;SMo" "" "" "" "" "00006" "2015-07-02 09:20:44" "00006" "2021-12-10 21:51:32" "06495" "RLSDF" "Rhizomelic limb shortening with dysmorphic features" "AR" "618821" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PRSS1" "00130" ## Individuals ## Do not remove or alter this header ## ## Count = 88 "{{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}}" "00036585" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036586" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036587" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036588" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036589" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036590" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036591" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00092238" "" "" "" "1" "" "00006" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "2-generation family, affectedmother and son" "F;M" "" "United States" "" "0" "" "" "" "" "00334616" "" "" "" "12" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334617" "" "" "" "15" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00334618" "" "" "" "9" "" "00000" "{PMID:Maranhao 2015:26352687}" "analysis 25 Pedigrees" "" "" "Pakistan" "" "0" "" "" "" "" "00387314" "" "" "" "1" "" "04138" "" "" "F" "" "Turkey" "" "0" "yes" "" "Turkey" "" "00387367" "" "" "" "1" "" "04138" "" "" "M" "" "Turkey" "" "0" "" "" "Turkey" "" "00387370" "" "" "" "3" "" "04138" "{PMID:Gou 2013:22722260}, {DOI:Gou 2013:10.1097/MPA.0b013e3182554276}" "3-generation family, 3 affected (3F)" "F" "" "China" "" "0" "" "" "" "FamPat2" "00387690" "" "" "" "1" "" "04138" "" "" "F" "" "Turkey" "" "" "" "" "Turkish" "" "00387691" "" "" "" "1" "" "04138" "" "" "F" "" "Turkey" "" "" "" "" "Turkish" "" "00387693" "" "" "" "1" "" "04138" "" "" "M" "" "Turkey" ">41y" "" "" "" "Turkish" "" "00387694" "" "" "" "1" "" "04138" "" "" "M" "" "Turkey" "" "" "" "" "Turkish" "" "00387930" "" "" "" "1" "" "04138" "" "" "M" "" "Turkey" "" "" "" "" "Turkish" "" "00387931" "" "" "" "1" "" "04138" "" "" "M" "" "Turkey" "" "" "" "" "Turkish" "" "00387932" "" "" "" "1" "" "04138" "" "" "M" "" "Turkey" ">35y" "" "" "" "Turkish" "" "00387934" "" "" "" "1" "" "04138" "{PMID:Németh 2017:29215622} {DOI:Németh 2017:10.1038/ajg.2017.393}" "" "F" "" "Hungary" ">30y" "0" "" "" "" "patient" "00387949" "" "" "" "1" "" "04138" "{PMID:Jancsó 2019:30792736}, {DOI:Jancsó 2019:10.3389/fgene.2019.00046}" "" "F" "" "Poland" "" "0" "" "" "Poland" "case" "00387981" "" "" "" "1" "" "04138" "{PMID:Truninger 2001:11138965}, {DOI:Truninger 2001:11138965:10.1097/00006676-200101000-00003}" "5-generation family, 7 affected (5F, 2M)" "F;M" "" "Germany" "" "0" "" "" "" "family" "00388004" "" "" "" "1" "" "04138" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 221 idiopathic chronic pancreatitis individuals" "?" "" "France" "" "0" "" "" "" "case" "00388007" "" "" "" "1" "" "04138" "{PMID:Chen 2001:11260229} {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 221 idiopathic chronic pancreatitis individuals" "" "" "France" "" "0" "" "" "" "case" "00388008" "" "" "" "1" "" "04138" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 221 idiopathic chronic pancreatitis individuals" "" "" "France" "" "0" "" "" "" "case" "00388010" "" "" "" "2" "" "04138" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 400 controls" "?" "" "France" "" "0" "" "" "" "control" "00388011" "" "" "" "1" "" "04138" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 221 idiopathic chronic pancreatitis individuals" "?" "" "France" "" "0" "" "" "" "case" "00388012" "" "" "" "1" "" "04138" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 221 idiopathic chronic pancreatitis individuals" "?" "" "France" "" "0" "" "" "" "case" "00388013" "" "" "" "1" "" "04138" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 221 idiopathic chronic pancreatitis individuals" "?" "" "France" "" "0" "" "" "" "case" "00388014" "" "" "" "1" "" "04138" "analysis 221 idiopathic chronic pancreatitis individuals" "" "" "" "France" "" "0" "" "" "" "case" "00388015" "" "" "" "1" "" "04138" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "analysis 221 idiopathic chronic pancreatitis individuals" "?" "" "France" "" "0" "" "" "" "case" "00388016" "" "" "" "1" "" "04138" "{PMID:Gou 2013:22722260}" "daughter" "F" "" "China" "" "0" "" "" "" "FamPat3" "00388525" "" "" "" "1" "" "00006" "{PMID:Gou 2013:22722260}, {DOI:Gou 2013:10.1097/MPA.0b013e3182554276}" "" "" "" "China" "" "0" "" "" "" "control" "00388707" "" "" "" "1" "" "04138" "{PMID:Marfil-Garza 2021:34132023}, {DOI:Marfil-Garza 2021:10.1111/ajt.16723}" "" "F" "" "" "" "" "" "" "" "" "00388708" "" "" "" "2" "" "04138" "{PMID:Murali 2021:34399810}, {DOI:Murali 2021:10.1186/s13053-021-00190-1}" "analysis 189 pancreatic ductal\r\nadenocarcinoma kindreds" "M" "" "Australia" "" "" "" "" "" "case" "00388709" "" "" "" "4" "" "04138" "{PMID:Murali 2021:34399810}, {DOI:Murali 2021:10.1186/s13053-021-00190-1}" "analysis 189 pancreatic ductal\r\nadenocarcinoma kindreds" "F" "" "Australia" "" "" "" "" "" "case" "00388710" "" "" "" "1" "" "04138" "{PMID:Ellison 2020:32658084}, {DOI:Ellison 2020:10.1097/MPA.0000000000001612}" "analysis 100 pancreatitis patients" "" "" "United States" "" "" "" "" "" "case" "00388715" "" "" "" "1" "" "04138" "{PMID:Ellison 2020:32658084}, {DOI:Ellison 2020:10.1097/MPA.0000000000001612}" "analysis 100 pancreatitis patients" "" "" "United States" "" "" "" "" "" "case" "00388716" "" "" "" "1" "" "04138" "{PMID:Ellison 2020:32658084}, {DOI:Ellison 2020:[10.1097/MPA.0000000000001612}" "analysis 100 pancreatitis patients" "" "" "United States" "" "0" "" "" "" "case" "00392813" "" "" "" "7" "" "04138" "{PMID:Arduino 2005:16227369}, {DOI:Arduino 2005:10.1136/gut.2004.062992}" "" "M" "" "Italy" "" "" "" "" "" "" "00393144" "" "" "" "1" "" "04138" "{PMID:Hamoir 2013:23751316}, {DOI:Hamoir 2013:10.1159/000348439}" "" "M" "" "Belgium" "" "" "" "" "" "Case #35" "00393145" "" "" "" "2" "" "04138" "{PMID:Enea 2019:29666173}, {DOI:Enea 2019:10.1136/gutjnl-2018-316443}" "" "F" "" "Italy" "" "" "" "" "" "Case 1" "00393146" "" "" "" "2" "" "04138" "{PMID:Enea 2019:29666173}, {DOI:Enea 2019:10.1136/gutjnl-2018-316443}" "" "M" "" "Italy" "" "" "" "" "" "Case 2" "00393199" "" "" "" "1" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "F" "" "Austria" "" "" "" "" "" "Case" "00393200" "" "" "" "1" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "F" "" "Austria" "" "" "" "" "" "Case" "00393201" "" "" "" "1" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "M" "" "Austria" "" "" "" "" "" "Case" "00393202" "" "" "" "1" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "M" "" "Austria" "" "" "" "" "" "Case" "00393203" "" "" "" "1" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "M" "" "Austria" "" "" "" "" "Italian" "Case" "00393204" "" "" "" "1" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "F" "" "Austria" "" "" "" "" "Turkish" "Case" "00393209" "" "" "" "44" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "" "" "Austria" "" "" "" "" "" "" "00393210" "" "" "" "44" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "" "" "Austria" "" "" "" "" "" "" "00393212" "" "" "" "2" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "2-generation family, father" "M" "" "Austria" "" "0" "" "" "Turkish" "FamPatRD" "00393215" "" "" "" "2" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "" "" "Austria" "" "" "" "" "Turkish" "" "00393217" "" "" "" "1" "" "04138" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "?" "?" "Germany" "" "" "" "" "" "case" "00393218" "" "" "" "14" "" "04138" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "" "" "Germany" "" "" "" "" "" "" "00393219" "" "" "" "8" "" "04138" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "" "" "Germany" "" "" "" "" "" "" "00393220" "" "" "" "1" "" "04138" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "" "" "Germany" "" "" "" "" "" "" "00393221" "" "" "" "2" "" "04138" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "" "" "Germany" "" "" "" "" "" "" "00393222" "" "" "" "5" "" "04138" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "" "" "Germany" "" "" "" "" "" "" "00393223" "" "" "" "25" "" "04138" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "" "" "Germany" "" "" "" "" "" "" "00393224" "" "" "" "1" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "?" "" "Italy" "" "" "" "" "" "Pat35" "00393225" "" "" "" "1" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Italy" "" "" "" "" "" "Pat29" "00393305" "" "" "" "1" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Italy" "" "" "" "" "" "Pat4" "00393306" "" "" "" "1" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Italy" "" "" "" "" "" "Pat72" "00393307" "" "" "" "1" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Italy" "" "" "" "" "" "pat69" "00393432" "" "" "" "1" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Italy" "" "" "" "" "" "Part51" "00393433" "" "" "" "2" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Italy" "" "" "" "" "" "" "00393434" "" "" "" "2" "" "04138" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Italy" "" "" "" "" "" "" "00393435" "" "" "" "3" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "" "00393436" "" "" "" "1" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "case" "00393437" "" "" "" "1" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "case" "00393438" "" "" "" "1" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "case" "00393439" "" "" "" "1" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "case" "00394009" "" "" "" "1" "" "04138" "" "" "M" "" "Turkey" "" "" "" "" "" "case" "00394304" "" "" "" "10" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Japan" "" "" "" "" "" "" "00394305" "" "" "" "9" "" "04138" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "" "" "Turkey" "" "" "" "" "" "" "00394306" "" "" "" "1" "" "04138" "{PMID:Corleto 2010:20950468}, {DOI:Corleto 2010:10.1186/1471-230X-10-119}" "" "M" "" "Italy" "" "0" "" "" "" "case" "00394307" "" "" "" "1" "" "04138" "{PMID:Corleto 2010:20950468}, {DOI:Corleto 2010:10.1186/1471-230X-10-119}" "mother proband" "F" "" "Italy" "" "0" "" "" "" "mother" "00394318" "" "" "" "1" "" "04138" "" "" "F" "" "Turkey" "" "" "" "" "" "" "00394468" "" "" "" "1" "" "04138" "{PMID:Chen 2003:12832630}, {DOI:Chen 2003:10.1093/molbev/msg183}" "" "" "" "France" "" "" "" "" "" "case" "00394966" "" "" "" "1" "" "04138" "{PMID:Jalaly 2017:28440306}, {DOI:Jalaly 2017:10.1038/ajg.2017.106}" "" "?" "" "United States" "" "" "" "" "" "case" "00394967" "" "" "" "1" "" "04138" "{PMID:Jalaly 2017:28440306}, {DOI:Jalaly 2017:10.1038/ajg.2017.106}" "" "?" "?" "United States" "" "" "" "" "" "case" "00403822" "" "" "00393212" "1" "" "04138" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "daughter" "" "" "Austria" "" "0" "" "" "Turkish" "" "00435463" "" "" "" "1" "" "00006" "{PMID:Sajan 2019:30478137}" "-generation family, 1 affected, unaffected heterozygous parents" "" "" "United States" "" "0" "" "" "" "Pat1" "00455451" "" "" "" "1" "" "04749" "" "" "F" "" "Singapore" "" "" "" "" "" "" "00469256" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 87 "{{individualid}}" "{{diseaseid}}" "00036586" "00198" "00036587" "00198" "00036591" "00198" "00092238" "00130" "00092238" "03790" "00334616" "04214" "00334617" "04214" "00334618" "04214" "00387314" "00130" "00387367" "00000" "00387370" "00198" "00387690" "00130" "00387691" "00130" "00387693" "00130" "00387694" "00130" "00387930" "00130" "00387931" "00130" "00387932" "00130" "00387934" "00130" "00387949" "00130" "00387981" "00130" "00388004" "00130" "00388007" "00130" "00388008" "00130" "00388010" "00000" "00388011" "00130" "00388012" "00130" "00388013" "00130" "00388014" "00130" "00388015" "00130" "00388016" "00198" "00388525" "00198" "00388707" "00130" "00388708" "00130" "00388708" "00681" "00388709" "00130" "00388709" "00681" "00388710" "00130" "00388715" "00130" "00388716" "00130" "00392813" "00130" "00393144" "00130" "00393145" "00130" "00393146" "00130" "00393199" "00130" "00393200" "00130" "00393201" "00130" "00393202" "00130" "00393203" "00130" "00393204" "00130" "00393209" "00130" "00393210" "00130" "00393212" "00130" "00393215" "00000" "00393217" "00130" "00393218" "00130" "00393219" "00130" "00393220" "00130" "00393221" "00130" "00393222" "00130" "00393223" "00130" "00393224" "00130" "00393225" "00130" "00393305" "00130" "00393306" "00130" "00393307" "00130" "00393432" "00130" "00393433" "00130" "00393434" "00130" "00393435" "00130" "00393436" "00130" "00393437" "00130" "00393438" "00130" "00393439" "00130" "00394009" "00000" "00394304" "00130" "00394305" "00130" "00394306" "00130" "00394307" "00000" "00394318" "00000" "00394468" "00130" "00394966" "00130" "00394967" "00130" "00403822" "00130" "00435463" "06495" "00455451" "04296" "00469256" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00130, 00198, 00681, 03790, 04214, 04296, 06495 ## Count = 75 "{{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}}" "0000070569" "03790" "00092238" "00006" "Familial, autosomal recessive" "" "severe IDD, congenital lactic acidosis, severe myopathy, hearing loss, renal failure, dysautonomia" "" "" "" "" "" "" "" "" "" "" "" "0000070570" "00130" "00092238" "00006" "Familial, autosomal dominant" "" "pancreatitis, hereditary" "" "" "" "" "" "" "" "" "" "" "" "0000156586" "00198" "00036586" "01164" "Unknown" "" "insulin-dependent diabetes mellitus type 2, exocrine pancreatic insufficiency; mother: suspected hereditary pankreatitis" "" "" "" "" "" "" "" "" "" "diabetes mellitus" "" "0000156587" "00198" "00036587" "01164" "Unknown" "" "hereditary pancreatitis, increased amylase (mother), chronic pankreatits (grand-mother)" "" "" "" "" "" "" "" "" "" "pancreatitis" "" "0000156588" "00198" "00036591" "01164" "Familial" "" "familiar hereditary pancreatitis, father and two cousins also affected" "" "" "" "" "" "" "" "" "" "pancreatitis" "" "0000280921" "00130" "00387314" "04138" "Unknown" "70y" "acute pancreatitis (HP:0001735), no steatorrhea (-HP:0002570), no exocrine pancreatic insufficiency (-HP:0001738), no pancreatic calcification (-HP:0005213), no pancreatic pseudocyst (-HP:0005206)" "69y" "69y" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "" "acute pancreatitis" "" "0000280932" "00000" "00387367" "04138" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "0000280935" "00198" "00387370" "04138" "Unknown" "" "see paper; ..." "46y" "" "neoplasm pancreas (HP:0002894)" "" "" "" "" "" "" "pseudopapillary tumors" "" "0000281258" "00130" "00387690" "04138" "Familial, autosomal dominant" "10y" "Abdominal pain (HP:0002027), No Pancreatic calcification (-HP:0005213), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Pancreatic pseudocyst (-HP:0005206), No Steatorrhea (-HP:0002570)" "05y" "10y" "Acute pancreatitis HP:0001735" "" "" "" "" "" "Pancreatitis, Hereditary OMIM:167800" "recurrent acute pancreatitis" "" "0000281259" "00130" "00387691" "04138" "Unknown" "18y" "No Steatorrhea (-HP:0002570), No Pancreatic pseudocyst (-HP:0005206), No Exocrine pancreatic insufficiency (-HP:0001738), No Diabetes mellitus (-HP:0000819), No Abdominal pain (-HP:0002027)," "09y" "18y" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "Chronic pancreatitis (HP:0006280)" "" "0000281261" "00130" "00387693" "04138" "Unknown" "41y" "Steatorrhea (HP:0002570), Exocrine pancreatic insufficiency (HP:0001738), Diabetes mellitus (HP:0000819), Abdominal pain (HP:0002027)," "17y" "41y" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "Chronic pancreatitis (HP:0006280)" "" "0000281262" "00130" "00387694" "04138" "Familial, autosomal dominant" "18y" "No Abdominal pain (-HP:0002027), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)" "14y" "18y" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "Chronic pancreatitis (HP:0006280)" "" "0000281498" "00130" "00387930" "04138" "Familial, autosomal dominant" "21y" "No Abdominal pain (-HP:0002027), Diabetes mellitus (HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)" "14y" "21y" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "Chronic pancreatitis (HP:0006280)" "" "0000281500" "00130" "00387931" "04138" "Familial, autosomal dominant" "10y" "No Abdominal pain (-HP:0002027), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)" "07y" "10y" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "Recurrent acute pancreatitis" "" "0000281501" "00130" "00387932" "04138" "Unknown" "35y" "No Abdominal pain (-HP:0002027), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)" "28y" "" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "" "Recurrent acute pancreatitis" "" "0000281505" "00130" "00387949" "04138" "Isolated (sporadic)" "11y" "Abnormal thrombosis (HP:0001977), Pancreatitis (HP:0001733)," "09y" "11y" "Acute pancreatitis (HP:0001735)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "Chronic pancreatitis (HP:0006280)" "" "0000281536" "00130" "00387981" "04138" "Familial, autosomal dominant" "" "pancreatitis (HP:00017339)" "" "" "" "" "" "" "" "" "" "idiopathic juvenile chronic pancreatitis (IJCP)" "" "0000281598" "00130" "00388004" "04138" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis (ICP)" "" "0000281602" "00130" "00388008" "04138" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis (ICP)" "" "0000281605" "00000" "00388010" "04138" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281606" "00130" "00388011" "04138" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis (ICP)" "" "0000281607" "00130" "00388012" "04138" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis (ICP)" "" "0000281610" "00130" "00388015" "04138" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis" "" "0000282247" "00130" "00388707" "04138" "Isolated (sporadic)" "02y" "pancreatitis (HP:0001733), ascites (HP:0001541), abdominal distention (HP:0003270), generalized edema (HP:0007430), abdominal pain (HP:0002027), peritonitis (HP:0002586), exocrine pancreatic insufficiency (HP:0001738), pancreatic pseudocyst (HP:0005206)," "01y08m" "02y" "pancreatitis (HP:0001733)" "" "" "" "" "" "Pancreatitis, Hereditary OMIM:167800" "acute pancreatitis" "" "0000282248" "00681" "00388708" "04138" "Unknown" "" "Pancreatic adenocarcinoma (HP:0006725), chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "Chronic pancreatitis" "" "0000282249" "00681" "00388709" "04138" "Unknown" "" "Pancreatic adenocarcinoma (HP:0006725), chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "pancreatitis, hereditary" "chronic pancreatitis" "" "0000282250" "00130" "00388710" "04138" "Unknown" "" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "pancreatitis" "" "0000282255" "00130" "00388715" "04138" "Unknown" "" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "pancreatitis" "" "0000286059" "00130" "00392813" "04138" "Familial, autosomal dominant" "57y" "chronic pancreatitis (HP:0006280), pancreatic adenocarcinoma (HP:0006725)" "40y" "57y" "pancreatitis" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "Chronic Pancreatitis" "" "0000286385" "00130" "00393144" "04138" "Isolated (sporadic)" "" "Pancreatitis (HP:0001733)" "" "" "Pancreatitis (HP:0001733)" "" "" "" "" "" "" "Idiopathic pancreatitis" "" "0000286386" "00130" "00393145" "04138" "Familial, autosomal dominant" "10y" "Pancreatitis (HP:0001733)," "" "" "Pancreatitis (HP:0001733)" "" "" "" "" "" "" "Recurrent acute pancreatitis" "" "0000286387" "00130" "00393146" "04138" "Familial, autosomal dominant" "13y" "abdominal pain (HP:0002027), chronic pancreatitis (HP:0006280), pancreatitis (HP:0001733)" "09y" "" "Abdominal pain (HP:0002027)" "" "" "" "" "" "" "" "" "0000286439" "00130" "00393199" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286440" "00130" "00393200" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286441" "00130" "00393201" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286442" "00130" "00393202" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286443" "00130" "00393203" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286444" "00130" "00393204" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286449" "00130" "00393209" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286450" "00130" "00393210" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286452" "00130" "00393212" "04138" "Familial, autosomal dominant" "28y" "abdominal pain (HP:0002027), weight loss (HP:0001824), pancreatic calcification (HP:0005213), abnormal pancreatic duct morphology (HP:0030992)" "27y" "" "abdominal pain (HP:0002027), weight loss (HP:0001824)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "idiopathic chronic pancreatitis" "" "0000286456" "00000" "00393215" "04138" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000286458" "00130" "00393217" "04138" "Unknown" ">20y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "" "" "0000286459" "00130" "00393218" "04138" "Unknown" "" "Pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis / Hereditary pancreatitis" "" "0000286460" "00130" "00393219" "04138" "Unknown" "" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis / hereditary pancreatitis" "" "0000286461" "00130" "00393220" "04138" "Unknown" "" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis / hereditary pancreatitis" "" "0000286462" "00130" "00393221" "04138" "Unknown" "" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis / hereditary pancreatitis" "" "0000286463" "00130" "00393222" "04138" "Unknown" "" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis / hereditary pancreatitis" "" "0000286464" "00130" "00393223" "04138" "Unknown" "" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis / hereditary pancreatitis" "" "0000286465" "00130" "00393224" "04138" "Isolated (sporadic)" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "Idiopathic chronic pancreatitis" "" "0000286466" "00130" "00393225" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286546" "00130" "00393305" "04138" "Unknown" "" "Chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286547" "00130" "00393306" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286548" "00130" "00393307" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286638" "00130" "00393432" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286639" "00130" "00393433" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286640" "00130" "00393434" "04138" "Unknown" "" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "idiopathic chronic pancreatitis" "" "0000286641" "00130" "00393435" "04138" "Isolated (sporadic)" "<16y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "recurrent acute pancreatitis / chronic pancreatitis" "" "0000286642" "00130" "00393436" "04138" "Familial" "<16y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "recurrent acute pancreatitis / chronic pancreatitis" "" "0000286643" "00130" "00393437" "04138" "Unknown" "<16y" "pancreatitis (HP:0001733), abnormal pancreatic duct morphology (HP:0030992)" "" "" "" "" "" "" "" "" "" "recurrent ecute pancreatitis / chronic pancreatitis" "" "0000286644" "00130" "00393438" "04138" "Unknown" "<16y" "pancreatitis (HP:0001733), abnormal pancreatic duct morphology (HP:0030992)" "" "" "" "" "" "" "" "" "" "recurrent acugte pancreatitis / chronic pancreatitis" "" "0000286645" "00130" "00393439" "04138" "Unknown" "<16y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "recurrent acute pancreatitis / chronic pancreatitis" "" "0000287215" "00000" "00394009" "04138" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000287510" "00130" "00394304" "04138" "Familial" "<16y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "recurrent acute pancreatitis / chronic pancreatitis" "" "0000287511" "00130" "00394305" "04138" "Isolated (sporadic)" "<16y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "" "recurrent acute pancreatitis / chronic pancreatitis" "" "0000287512" "00130" "00394306" "04138" "Isolated (sporadic)" "06y" "abdominal pain (HP:0002027), nausea (HP:0002018), fever (HP:0001945), leukocytosis (HP:0001974), no pancreatic pseudocyst (-HP:0005206), pancreatitis (HP:0001733), no pancreatic calcification (-HP:0005213), no abnormal pancreatic duct morphology (HP:0030992)" "05y?" "" "abdominal pain (HP:0002027), nausea (HP:0002018), fever (HP:0001945)" "" "" "" "" "" "" "recurrent acute pancreatitis" "" "0000287513" "00000" "00394307" "04138" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000287522" "00000" "00394318" "04138" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000287671" "00130" "00394468" "04138" "Unknown" "27y" "chronic pancreatitis (HP:0006280)" "" "" "" "" "" "" "" "" "" "chronic pancreatitis" "" "0000288165" "00130" "00394966" "04138" "Unknown" ">17y" "pancreatitis (HP:0001733)" "" "" "" "" "" "" "" "" "hereditary pancreatitis" "Acute recurrent idiopathic pancreatitis" "" "0000288166" "00130" "00394967" "04138" "Unknown" ">17y" "pancreatitis (HP:0001733)" ">35y" "" "" "" "" "" "" "" "hereditary pancreatitis" "Acute pancreatitis" "" "0000296503" "00130" "00403822" "04138" "Familial, autosomal dominant" "08y" "abdominal pain (HP:0002027), no pancreatic calcification (-HP:0005213), no abnormal pancreatic duct morphology (-HP:0030992), no pancreatic pseudocyst (-HP:0005206)" "03y" "08y" "abdominal pain (HP:0002027)" "" "" "" "" "" "Pancreatitis, Hereditary (OMIM:167800)" "idiopathic chronic pancreatitis" "" "0000325653" "06495" "00435463" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3.18kg (32nd), length 50.8cm (69th); weight 73.6kg (92nd), height 156.7 cm (17th), OFC 55.4 cm (84th), body mass index 30 kg/m2 (96th); Rhizomelic shortening and milder mesomelic shortening upper and lower extremities, short thumbs, bilateral short 5th fingers, hyperextensible fingers, bilateral middle finger clinodactyly, limited range of motion shoulder joints, chronic joint pain, juvenile idiopathic arthritis, bilateral patellofemoral joint dislocation; prominent forehead, downslanting palpebral fissures, broad nasal bridge, long philtrum; obesity, left-sided headaches, acanthosis nigricans, chronic stage 1 kidney disease, café au lait macule on upper right arm, depressed mood, occasional abdominal pain, dizziness, nausea, left-sided small branchial cleft defect covered with skin without an obvious fistula; no cardiac anomalirs" "" "<00y06m" "" "" "" "" "" "" "RLSDF" "rhizomelic shortening of limbs, dysmorphic features" "" "0000344015" "04296" "00455451" "04749" "Familial, autosomal dominant" "" "Pancreatic cancer 52y mucinous adenocarcinoma*; \r\nChronic pancreatitis 20-30y*" "" "" "" "" "" "" "" "" "" "" "" "0000354409" "00198" "00469256" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 88 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036655" "00036585" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036656" "00036586" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036657" "00036587" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036658" "00036588" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036659" "00036589" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036660" "00036590" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036661" "00036591" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000092379" "00092238" "1" "00006" "00006" "2016-12-16 19:09:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000335845" "00334616" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335846" "00334617" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000335847" "00334618" "1" "00000" "00006" "2021-03-01 16:58:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000388584" "00387314" "1" "04138" "04138" "2021-10-28 14:43:34" "" "" "SEQ-NG" "DNA" "blood" "idiopathic pancreatitis gene panel" "0000388593" "00387367" "1" "04138" "04138" "2021-10-28 19:50:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000388597" "00387370" "1" "04138" "04138" "2021-10-28 20:14:42" "" "" "SEQ" "DNA" "blood" "" "0000388919" "00387690" "1" "04138" "04138" "2021-10-31 09:12:51" "" "" "SEQ-NG" "DNA" "Blood" "idiopathic pancreatitis gene panel" "0000388921" "00387691" "1" "04138" "04138" "2021-10-31 10:04:57" "" "" "SEQ-NG" "DNA" "blood" "idiopathic pancreatitis gene panel" "0000388924" "00387693" "1" "04138" "04138" "2021-10-31 10:30:27" "" "" "SEQ-NG" "DNA" "blood" "idiopathic pancreatitis gene panel" "0000388925" "00387694" "1" "04138" "04138" "2021-10-31 11:01:45" "" "" "SEQ-NG" "DNA" "blood" "idiopathic pancreatitis gene panel" "0000389163" "00387930" "1" "04138" "04138" "2021-10-31 15:52:31" "" "" "SEQ-NG" "DNA" "blood" "idiopathic pancreatitis gene panel" "0000389165" "00387931" "1" "04138" "04138" "2021-10-31 17:15:08" "" "" "SEQ-NG" "DNA" "blood" "idiopathic pancreatitis gene panel" "0000389166" "00387932" "1" "04138" "04138" "2021-10-31 17:30:38" "" "" "SEQ-NG" "DNA" "blood" "idiopathic pancreatitis gene panel" "0000389170" "00387934" "1" "04138" "04138" "2021-10-31 20:55:17" "" "" "SEQ" "DNA" "" "" "0000389185" "00387949" "1" "04138" "04138" "2021-10-31 21:48:47" "" "" "SEQ" "DNA" "blood" "" "0000389217" "00387981" "1" "04138" "04138" "2021-11-01 11:19:02" "" "" "SEQ" "DNA" "blood" "" "0000389243" "00388004" "1" "04138" "04138" "2021-11-01 18:26:19" "" "" "DGGE" "DNA" "" "" "0000389245" "00388007" "1" "04138" "04138" "2021-11-01 18:39:49" "" "" "DGGE" "DNA" "blood" "" "0000389247" "00388008" "1" "04138" "04138" "2021-11-01 19:23:50" "" "" "DGGE" "DNA" "blood" "" "0000389249" "00388010" "1" "04138" "04138" "2021-11-01 20:50:39" "" "" "DGGE" "DNA" "blood" "" "0000389250" "00388011" "1" "04138" "04138" "2021-11-01 21:06:52" "" "" "DGGE" "DNA" "blood" "" "0000389251" "00388012" "1" "04138" "04138" "2021-11-01 21:20:15" "" "" "DGGE" "DNA" "blood" "" "0000389252" "00388013" "1" "04138" "04138" "2021-11-01 21:34:23" "" "" "DGGE" "DNA" "blood" "" "0000389253" "00388014" "1" "04138" "04138" "2021-11-01 22:09:42" "" "" "DGGE" "DNA" "blood" "" "0000389254" "00388015" "1" "04138" "04138" "2021-11-01 22:24:50" "" "" "DGGE" "DNA" "blood" "" "0000389255" "00388016" "1" "04138" "04138" "2021-11-01 22:35:40" "" "" "SEQ" "DNA" "blood" "" "0000389767" "00388525" "1" "00006" "00006" "2021-11-04 13:35:34" "" "" "SEQ" "DNA" "" "" "0000389950" "00388707" "1" "04138" "04138" "2021-11-06 19:13:41" "" "" "?" "DNA" "" "" "0000389951" "00388708" "1" "04138" "04138" "2021-11-06 21:38:09" "" "" "?;SEQ;SEQ-NG;-" "DNA" "" "" "0000389952" "00388709" "1" "04138" "04138" "2021-11-06 22:30:03" "" "" "SEQ;SEQ-NG;-" "DNA" "" "" "0000389955" "00388710" "1" "04138" "04138" "2021-11-07 10:27:33" "" "" "SEQ-NG" "DNA" "saliva" "" "0000389958" "00388715" "1" "04138" "04138" "2021-11-07 10:53:58" "" "" "SEQ-NG" "DNA" "saliva" "" "0000389959" "00388716" "1" "04138" "04138" "2021-11-07 11:25:28" "" "" "SEQ-NG" "DNA" "saliva" "" "0000394060" "00392813" "1" "04138" "04138" "2021-11-24 21:45:47" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000394392" "00393144" "1" "04138" "04138" "2021-11-25 21:42:14" "" "" "MLPA;PCRm;SEQ" "DNA" "" "" "0000394393" "00393145" "1" "04138" "04138" "2021-11-25 22:49:34" "" "" "?" "DNA" "" "" "0000394394" "00393146" "1" "04138" "04138" "2021-11-25 23:08:13" "" "" "?" "DNA" "" "" "0000394447" "00393199" "1" "04138" "04138" "2021-11-27 11:52:07" "" "" "RFLP" "DNA" "blood" "" "0000394448" "00393200" "1" "04138" "04138" "2021-11-27 12:11:15" "" "" "RFLP" "DNA" "blood" "" "0000394449" "00393201" "1" "04138" "04138" "2021-11-27 12:26:17" "" "" "RFLP" "DNA" "blood" "" "0000394450" "00393202" "1" "04138" "04138" "2021-11-27 12:39:43" "" "" "RFLP" "DNA" "blood" "" "0000394451" "00393203" "1" "04138" "04138" "2021-11-27 16:11:59" "" "" "RFLP" "DNA" "blood" "" "0000394452" "00393204" "1" "04138" "04138" "2021-11-27 16:33:20" "" "" "RFLP" "DNA" "blood" "" "0000394457" "00393209" "1" "04138" "04138" "2021-11-27 17:23:34" "" "" "RFLP" "DNA" "blood" "" "0000394458" "00393210" "1" "04138" "04138" "2021-11-27 17:33:00" "" "" "RFLP" "DNA" "blood" "" "0000394461" "00393212" "1" "04138" "04138" "2021-11-27 18:17:13" "" "" "RFLP" "DNA" "blood" "" "0000394463" "00393215" "1" "04138" "04138" "2021-11-27 18:31:37" "" "" "RFLP" "DNA" "blood" "" "0000394465" "00393217" "1" "04138" "04138" "2021-11-27 20:25:41" "" "" "MCA;SEQ" "DNA" "blood" "" "0000394466" "00393218" "1" "04138" "04138" "2021-11-27 20:44:53" "" "" "MCA;SEQ" "DNA" "blood" "" "0000394467" "00393219" "1" "04138" "04138" "2021-11-27 21:01:01" "" "" "MCA;SEQ" "DNA" "blood" "" "0000394468" "00393220" "1" "04138" "04138" "2021-11-27 21:12:13" "" "" "SEQ" "DNA" "blood" "" "0000394469" "00393221" "1" "04138" "04138" "2021-11-27 21:24:43" "" "" "MCA;SEQ" "DNA" "blood" "" "0000394470" "00393222" "1" "04138" "04138" "2021-11-27 21:36:33" "" "" "MCA;SEQ" "DNA" "blood" "" "0000394471" "00393223" "1" "04138" "04138" "2021-11-27 21:49:27" "" "" "MCA;SEQ" "DNA" "blood" "" "0000394472" "00393224" "1" "04138" "04138" "2021-11-27 23:02:24" "" "" "SEQ-NG" "DNA" "blood" "" "0000394473" "00393225" "1" "04138" "04138" "2021-11-27 23:13:53" "" "" "SEQ-NG" "DNA" "blood" "" "0000394553" "00393305" "1" "04138" "04138" "2021-11-28 21:49:29" "" "" "SEQ-NG" "DNA" "blood" "" "0000394554" "00393306" "1" "04138" "04138" "2021-11-28 22:00:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000394555" "00393307" "1" "04138" "04138" "2021-11-28 22:14:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000394680" "00393432" "1" "04138" "04138" "2021-11-29 20:19:30" "" "" "SEQ-NG" "DNA" "blood" "" "0000394681" "00393433" "1" "04138" "04138" "2021-11-29 20:34:58" "" "" "SEQ-NG" "DNA" "blood" "" "0000394682" "00393434" "1" "04138" "04138" "2021-11-29 20:47:55" "04138" "2021-11-29 22:07:46" "SEQ-NG" "DNA" "blood" "" "0000394683" "00393435" "1" "04138" "04138" "2021-11-29 21:47:53" "" "" "SEQ" "DNA" "blood" "" "0000394684" "00393436" "1" "04138" "04138" "2021-11-29 21:54:20" "" "" "SEQ" "DNA" "blood" "" "0000394685" "00393437" "1" "04138" "04138" "2021-11-29 22:09:02" "" "" "SEQ" "DNA" "blood" "" "0000394686" "00393438" "1" "04138" "04138" "2021-11-29 22:25:35" "" "" "SEQ" "DNA" "blood" "" "0000394687" "00393439" "1" "04138" "04138" "2021-11-29 22:44:33" "" "" "SEQ" "DNA" "blood" "" "0000395257" "00394009" "1" "04138" "04138" "2021-11-30 10:17:21" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000395552" "00394304" "1" "04138" "04138" "2021-11-30 20:09:37" "" "" "SEQ" "DNA" "blood" "" "0000395553" "00394305" "1" "04138" "04138" "2021-11-30 20:23:07" "" "" "SEQ" "DNA" "blood" "" "0000395554" "00394306" "1" "04138" "04138" "2021-11-30 21:36:12" "" "" "MAPH;SEQ" "DNA" "blood" "" "0000395555" "00394307" "1" "04138" "04138" "2021-11-30 21:50:27" "" "" "MAPH;SEQ" "DNA" "blood" "" "0000395565" "00394318" "1" "04138" "04138" "2021-12-01 10:01:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000395715" "00394468" "1" "04138" "04138" "2021-12-01 20:26:11" "" "" "?" "DNA" "" "" "0000396212" "00394966" "1" "04138" "04138" "2021-12-02 22:04:30" "" "" "?" "DNA" "" "" "0000396213" "00394967" "1" "04138" "04138" "2021-12-02 22:18:51" "" "" "?" "DNA" "" "" "0000405060" "00403822" "1" "04138" "04138" "2021-11-27 18:17:13" "" "" "RFLP" "DNA" "blood" "" "0000436941" "00435463" "1" "00006" "00006" "2023-07-31 11:07:23" "" "" "SEQ-NG" "DNA" "" "trio WES" "0000457064" "00455451" "1" "04749" "04749" "2024-10-09 17:35:35" "" "" "SEQ-NG" "DNA" "" "" "0000470924" "00469256" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 183 "{{screeningid}}" "{{geneid}}" "0000036655" "PRSS1" "0000036656" "PRSS1" "0000036657" "PRSS1" "0000036658" "PRSS1" "0000036659" "PRSS1" "0000036660" "PRSS1" "0000036661" "PRSS1" "0000092379" "PRSS1" "0000092379" "RMND1" "0000388584" "CFTR" "0000388584" "CTRC" "0000388584" "PRSS1" "0000388584" "SPINK1" "0000388593" "PRSS1" "0000388597" "APC" "0000388597" "PRSS1" "0000388919" "CFTR" "0000388919" "CTRC" "0000388919" "PRSS1" "0000388919" "SPINK1" "0000388921" "CFTR" "0000388921" "CTRC" "0000388921" "PRSS1" "0000388921" "SPINK1" "0000388924" "CFTR" "0000388924" "CTRC" "0000388924" "PRSS1" "0000388924" "SPINK1" "0000388925" "CFTR" "0000388925" "CTRC" "0000388925" "PRSS1" "0000388925" "SPINK1" "0000389163" "CFTR" "0000389163" "CTRC" "0000389163" "PRSS1" "0000389163" "SPINK1" "0000389165" "CFTR" "0000389165" "CTRC" "0000389165" "PRSS1" "0000389165" "SPINK1" "0000389166" "CFTR" "0000389166" "CTRC" "0000389166" "PRSS1" "0000389166" "SPINK1" "0000389170" "CPA1" "0000389170" "CTRC" "0000389170" "PRSS1" "0000389170" "SPINK1" "0000389185" "CFTR" "0000389185" "CPA1" "0000389185" "CTRC" "0000389185" "PRSS1" "0000389185" "SPINK1" "0000389217" "PRSS1" "0000389243" "PRSS1" "0000389245" "PRSS1" "0000389247" "PRSS1" "0000389249" "PRSS1" "0000389250" "PRSS1" "0000389251" "PRSS1" "0000389252" "PRSS1" "0000389253" "PRSS1" "0000389254" "PRSS1" "0000389255" "PRSS1" "0000389767" "PRSS1" "0000389950" "PRSS1" "0000389955" "CEL" "0000389955" "CFTR" "0000389955" "CPA1" "0000389955" "CTRC" "0000389955" "GGT1" "0000389955" "PRSS1" "0000389955" "SPINK1" "0000389955" "UBR1" "0000389958" "CEL" "0000389958" "CFTR" "0000389958" "CPA1" "0000389958" "CTRC" "0000389958" "GGT1" "0000389958" "PRSS1" "0000389958" "SPINK1" "0000389958" "UBR1" "0000389959" "CEL" "0000389959" "CFTR" "0000389959" "CPA1" "0000389959" "CTRC" "0000389959" "GGT1" "0000389959" "PRSS1" "0000389959" "SPINK1" "0000389959" "UBR1" "0000394060" "CFTR" "0000394060" "PRSS1" "0000394060" "SPINK1" "0000394392" "CFTR" "0000394392" "PRSS1" "0000394392" "SPINK1" "0000394393" "PRSS1" "0000394394" "PRSS1" "0000394447" "PRSS1" "0000394448" "PRSS1" "0000394449" "PRSS1" "0000394450" "PRSS1" "0000394451" "PRSS1" "0000394452" "PRSS1" "0000394457" "PRSS1" "0000394458" "PRSS1" "0000394461" "PRSS1" "0000394463" "PRSS1" "0000394465" "CFTR" "0000394465" "CTRC" "0000394465" "PRSS1" "0000394465" "SPINK1" "0000394466" "CFTR" "0000394466" "CTRC" "0000394466" "PRSS1" "0000394466" "SPINK1" "0000394467" "CFTR" "0000394467" "CTRC" "0000394467" "PRSS1" "0000394467" "SPINK1" "0000394468" "CFTR" "0000394468" "CTRC" "0000394468" "PRSS1" "0000394468" "SPINK1" "0000394469" "CFTR" "0000394469" "CTRC" "0000394469" "PRSS1" "0000394469" "SPINK1" "0000394470" "CFTR" "0000394470" "CTRC" "0000394470" "PRSS1" "0000394470" "SPINK1" "0000394471" "CFTR" "0000394471" "CTRC" "0000394471" "PRSS1" "0000394471" "SPINK1" "0000394683" "CPA1" "0000394683" "CTRC" "0000394683" "PRSS1" "0000394683" "SPINK1" "0000394684" "CPA1" "0000394684" "CTRC" "0000394684" "PRSS1" "0000394684" "SPINK1" "0000394685" "CPA1" "0000394685" "CTRC" "0000394685" "PRSS1" "0000394685" "SPINK1" "0000394686" "CPA1" "0000394686" "CTRC" "0000394686" "PRSS1" "0000394686" "SPINK1" "0000394687" "CPA1" "0000394687" "CTRC" "0000394687" "PRSS1" "0000394687" "SPINK1" "0000395552" "CPA1" "0000395552" "CTRC" "0000395552" "PRSS1" "0000395552" "SPINK1" "0000395553" "CPA1" "0000395553" "CTRC" "0000395553" "PRSS1" "0000395553" "SPINK1" "0000395554" "CFTR" "0000395554" "CTRC" "0000395554" "PRSS1" "0000395554" "SPINK1" "0000395555" "CFTR" "0000395555" "CTRC" "0000395555" "PRSS1" "0000395555" "SPINK1" "0000395715" "PRSS1" "0000396212" "CFTR" "0000396212" "CTRC" "0000396212" "PRSS1" "0000396212" "SPINK1" "0000396213" "CFTR" "0000396213" "CTRC" "0000396213" "PRSS1" "0000396213" "SPINK1" "0000405060" "PRSS1" "0000457064" "PRSS1" ## 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 = 139 "{{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}}" "0000063780" "1" "90" "7" "142459788" "142459788" "subst" "0" "01164" "PRSS1_000002" "g.142459788C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142751937C>T" "" "pathogenic" "" "0000063781" "1" "10" "7" "142458609" "142458609" "subst" "0" "01164" "PRSS1_000007" "g.142458609C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142750758C>G" "" "benign" "" "0000063782" "1" "10" "7" "142458610" "142458610" "subst" "0" "01164" "PRSS1_000001" "g.142458610T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142750759T>G" "" "benign" "" "0000063783" "1" "50" "7" "142460695" "142460695" "subst" "0" "01164" "PRSS1_000004" "g.142460695C>T" "" "" "" "" "" "Germline" "" "rs192452846" "0" "" "" "g.142752844C>T" "" "VUS" "" "0000063784" "1" "90" "7" "142459789" "142459789" "subst" "0" "01164" "PRSS1_000003" "g.142459789G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142751938G>A" "" "pathogenic" "" "0000063785" "1" "10" "7" "142460708" "142460708" "subst" "0" "01164" "PRSS1_000005" "g.142460708C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142752857C>T" "" "benign" "" "0000063786" "1" "90" "7" "142458451" "142458451" "subst" "0" "01164" "PRSS1_000006" "g.142458451A>T" "" "" "" "" "in combination withc.592-8C>T + c.592-11C>T (IVS4)" "Germline" "" "" "0" "" "" "g.142750600A>T" "" "pathogenic" "" "0000150683" "1" "90" "7" "142458451" "142458451" "subst" "0" "00006" "PRSS1_000008" "g.142458451A>C" "" "{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}" "" "" "" "Unknown" "" "" "0" "" "" "g.142750600A>C" "" "pathogenic" "" "0000248217" "0" "50" "7" "142460335" "142460335" "subst" "0" "02325" "PRSS1_000045" "g.142460335A>G" "" "" "" "PRSS1(NM_002769.5):c.508A>G (p.K170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752484A>G" "" "VUS" "" "0000249108" "0" "10" "7" "142458967" "142458967" "subst" "0" "02325" "PRSS1_000027" "g.142458967A>T" "" "" "" "PRSS1(NM_002769.5):c.200+402A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142751116A>T" "" "benign" "" "0000250920" "0" "10" "7" "142460335" "142460335" "subst" "0" "02326" "PRSS1_000045" "g.142460335A>G" "" "" "" "PRSS1(NM_002769.5):c.508A>G (p.K170E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752484A>G" "" "benign" "" "0000254048" "0" "30" "7" "142460801" "142460801" "subst" "0" "01943" "PRSS1_000047" "g.142460801A>G" "" "" "" "PRSS1(NM_002769.4):c.674A>G (p.K225R, p.(Lys225Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752950A>G" "" "likely benign" "" "0000254053" "0" "30" "7" "142457382" "142457382" "subst" "0" "01943" "PRSS1_000014" "g.142457382A>T" "" "" "" "PRSS1(NM_002769.4):c.40+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142749531A>T" "" "likely benign" "" "0000297399" "0" "10" "7" "142458972" "142458972" "subst" "0" "02325" "PRSS1_000028" "g.142458972T>C" "" "" "" "PRSS1(NM_002769.5):c.200+407T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142751121T>C" "" "benign" "" "0000297400" "0" "10" "7" "142460369" "142460369" "subst" "0" "02325" "PRSS1_000033" "g.142460369G>A" "" "" "" "PRSS1(NM_002769.5):c.542G>A (p.S181N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752518G>A" "" "benign" "" "0000297401" "0" "10" "7" "142460865" "142460865" "subst" "0" "02325" "PRSS1_000043" "g.142460865T>C" "" "" "" "PRSS1(NM_002769.5):c.738T>C (p.N246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142753014T>C" "" "benign" "" "0000301245" "0" "10" "7" "142460369" "142460369" "subst" "0" "02326" "PRSS1_000033" "g.142460369G>A" "" "" "" "PRSS1(NM_002769.5):c.542G>A (p.S181N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752518G>A" "" "benign" "" "0000306503" "0" "30" "7" "142458486" "142458486" "subst" "0" "01943" "PRSS1_000017" "g.142458486C>T" "" "" "" "PRSS1(NM_002769.4):c.121C>T (p.L41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142750635C>T" "" "likely benign" "" "0000306504" "0" "10" "7" "142459626" "142459626" "subst" "0" "01943" "PRSS1_000029" "g.142459626C>T" "" "" "" "PRSS1(NM_002769.4):c.202C>T (p.R68C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142751775C>T" "" "benign" "" "0000306505" "0" "30" "7" "142459871" "142459871" "subst" "0" "01943" "PRSS1_000030" "g.142459871C>T" "" "" "" "PRSS1(NM_002769.4):c.447C>T (p.S149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752020C>T" "" "likely benign" "" "0000306506" "0" "10" "7" "142458414" "142458414" "subst" "0" "01943" "PRSS1_000016" "g.142458414C>T" "" "" "" "PRSS1(NM_002769.4):c.49C>T (p.P17S, p.(Pro17Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142750563C>T" "" "benign" "" "0000306507" "0" "30" "7" "142460379" "142460379" "subst" "0" "01943" "PRSS1_000035" "g.142460379C>T" "" "" "" "PRSS1(NM_002769.4):c.552C>T (p.F184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752528C>T" "" "likely benign" "" "0000306508" "0" "30" "7" "142460388" "142460388" "subst" "0" "01943" "PRSS1_000036" "g.142460388C>T" "" "" "" "PRSS1(NM_002769.4):c.561C>T (p.G187=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752537C>T" "" "likely benign" "" "0000306509" "0" "30" "7" "142460711" "142460711" "subst" "0" "01943" "PRSS1_000039" "g.142460711C>T" "" "" "" "PRSS1(NM_002769.4):c.592-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752860C>T" "" "likely benign" "" "0000306510" "0" "30" "7" "142460710" "142460710" "subst" "0" "01943" "PRSS1_000038" "g.142460710T>C" "" "" "" "PRSS1(NM_002769.4):c.592-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752859T>C" "" "likely benign" "" "0000306511" "0" "30" "7" "142460764" "142460764" "subst" "0" "01943" "PRSS1_000041" "g.142460764G>A" "" "" "" "PRSS1(NM_002769.4):c.637G>A (p.V213I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752913G>A" "" "likely benign" "" "0000331911" "0" "30" "7" "142460779" "142460779" "subst" "0" "01804" "PRSS1_000042" "g.142460779G>T" "" "" "" "PRSS1(NM_002769.4):c.652G>T (p.(Asp218Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.142752928G>T" "" "likely benign" "" "0000531024" "0" "30" "7" "142458409" "142458409" "subst" "0" "01804" "PRSS1_000048" "g.142458409C>G" "" "" "" "PRSS1(NM_002769.4):c.44C>G (p.(Ala15Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142750558C>G" "" "likely benign" "" "0000531029" "0" "30" "7" "142458414" "142458414" "subst" "0" "01804" "PRSS1_000016" "g.142458414C>T" "" "" "" "PRSS1(NM_002769.4):c.49C>T (p.P17S, p.(Pro17Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142750563C>T" "" "likely benign" "" "0000531030" "0" "50" "7" "142458511" "142458511" "subst" "0" "01943" "PRSS1_000049" "g.142458511G>T" "" "" "" "PRSS1(NM_002769.4):c.146G>T (p.G49V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142750660G>T" "" "VUS" "" "0000531041" "0" "30" "7" "142459658" "142459658" "subst" "0" "01943" "PRSS1_000050" "g.142459658C>T" "" "" "" "PRSS1(NM_002769.4):c.234C>T (p.I78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142751807C>T" "" "likely benign" "" "0000531042" "0" "70" "7" "142459788" "142459788" "subst" "0" "02325" "PRSS1_000002" "g.142459788C>T" "" "" "" "PRSS1(NM_002769.5):c.364C>T (p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142751937C>T" "" "likely pathogenic" "" "0000531043" "0" "70" "7" "142459789" "142459789" "subst" "0" "02327" "PRSS1_000003" "g.142459789G>A" "" "" "" "PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142751938G>A" "" "likely pathogenic" "" "0000531044" "0" "70" "7" "142459789" "142459789" "subst" "0" "02325" "PRSS1_000003" "g.142459789G>A" "" "" "" "PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142751938G>A" "" "likely pathogenic" "" "0000531045" "0" "30" "7" "142459824" "142459824" "subst" "0" "01943" "PRSS1_000051" "g.142459824G>A" "" "" "" "PRSS1(NM_002769.4):c.400G>A (p.A134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142751973G>A" "" "likely benign" "" "0000531047" "0" "10" "7" "142460313" "142460313" "subst" "0" "02327" "PRSS1_000053" "g.142460313T>C" "" "" "" "PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142752462T>C" "" "benign" "" "0000531048" "0" "10" "7" "142460313" "142460313" "subst" "0" "02325" "PRSS1_000053" "g.142460313T>C" "" "" "" "PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142752462T>C" "" "benign" "" "0000531049" "0" "10" "7" "142460313" "142460313" "subst" "0" "02326" "PRSS1_000053" "g.142460313T>C" "" "" "" "PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142752462T>C" "" "benign" "" "0000531051" "0" "30" "7" "142460374" "142460374" "subst" "0" "01804" "PRSS1_000034" "g.142460374A>G" "" "" "" "PRSS1(NM_002769.4):c.547A>G (p.(Met183Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142752523A>G" "" "likely benign" "" "0000531055" "0" "30" "7" "142460778" "142460778" "subst" "0" "01943" "PRSS1_000054" "g.142460778T>C" "" "" "" "PRSS1(NM_002769.4):c.651T>C (p.G217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142752927T>C" "" "likely benign" "" "0000531058" "0" "30" "7" "142460781" "142460781" "subst" "0" "01943" "PRSS1_000055" "g.142460781T>C" "" "" "" "PRSS1(NM_002769.4):c.654T>C (p.D218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142752930T>C" "" "likely benign" "" "0000531059" "0" "30" "7" "142460801" "142460801" "subst" "0" "01804" "PRSS1_000047" "g.142460801A>G" "" "" "" "PRSS1(NM_002769.4):c.674A>G (p.K225R, p.(Lys225Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142752950A>G" "" "likely benign" "" "0000531060" "0" "10" "7" "142460865" "142460865" "subst" "0" "02327" "PRSS1_000043" "g.142460865T>C" "" "" "" "PRSS1(NM_002769.5):c.738T>C (p.N246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142753014T>C" "" "benign" "" "0000610883" "0" "10" "7" "142457375" "142457375" "subst" "0" "02325" "PRSS1_000013" "g.142457375C>G" "" "" "" "PRSS1(NM_002769.5):c.40C>G (p.L14V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142749524C>G" "" "benign" "" "0000610884" "0" "30" "7" "142458578" "142458578" "subst" "0" "02327" "PRSS1_000056" "g.142458578C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142750727C>T" "" "likely benign" "" "0000610885" "0" "50" "7" "142459659" "142459659" "subst" "0" "02327" "PRSS1_000057" "g.142459659G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142751808G>A" "" "VUS" "" "0000610886" "0" "70" "7" "142459788" "142459788" "subst" "0" "02327" "PRSS1_000002" "g.142459788C>T" "" "" "" "PRSS1(NM_002769.5):c.364C>T (p.R122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.142751937C>T" "" "likely pathogenic" "" "0000721318" "0" "90" "7" "142459789" "142459789" "subst" "0" "01943" "PRSS1_000003" "g.142459789G>A" "" "" "" "PRSS1(NM_002769.4):c.365G>A (p.R122H), PRSS1(NM_002769.5):c.365G>A (p.R122H), PRSS2(NM_001303414.1):c.407G>A (p.R136H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000734757" "0" "30" "7" "142460482" "142460482" "subst" "0" "00000" "PRSS1_000058" "g.142460482G>T" "12/25 families" "{PMID:Maranhao 2015:26352687}" "" "PRSS1:c.591+64G>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734758" "0" "30" "7" "142460495" "142460495" "subst" "0" "00000" "PRSS1_000059" "g.142460495A>C" "15/25 families" "{PMID:Maranhao 2015:26352687}" "" "PRSS1:c.591+77A>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000734759" "0" "30" "7" "142460503" "142460503" "subst" "0" "00000" "PRSS1_000060" "g.142460503T>C" "9/25 families" "{PMID:Maranhao 2015:26352687}" "" "PRSS1:c.591+85T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000802973" "0" "30" "7" "142460802" "142460802" "subst" "0" "01943" "PRSS1_000061" "g.142460802G>T" "" "" "" "PRSS1(NM_002769.4):c.675G>T (p.K225N), PRSS2(NM_001303414.1):c.717G>T (p.R239S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000817283" "0" "50" "7" "142459734" "142459734" "subst" "0" "04138" "PRSS1_000064" "g.142459734C>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.142751883C>G" "" "VUS" "ACMG" "0000817292" "20" "50" "7" "142459734" "142459734" "subst" "0" "04138" "PRSS1_000064" "g.142459734C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142751883C>G" "" "VUS" "ACMG" "0000817297" "0" "50" "7" "142459734" "142459734" "subst" "0" "04138" "PRSS1_000064" "g.142459734C>G" "" "{PMID:Gou 2013:22722260}, {DOI:Gou 2013:10.1097/MPA.0b013e3182554276}" "" "" "variant also found in 2 healthy male relatives" "Germline" "" "" "0" "" "" "g.142751883C>G" "" "VUS" "" "0000817712" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "" "" "" "" "" "Germline" "?" "rs111033565" "0" "" "" "" "{CV:11876}" "pathogenic" "ACMG" "0000817715" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "" "" "" "" "" "Germline" "?" "rs111033565" "0" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "ACMG" "0000817717" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "" "" "" "" "" "Germline" "?" "rs111033565" "0" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "ACMG" "0000817718" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "" "" "" "" "" "Germline" "" "rs111033565" "0" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "ACMG" "0000818047" "0" "90" "7" "142458427" "142458427" "subst" "0" "04138" "PRSS1_000063" "g.142458427A>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.142750576A>C" "" "pathogenic" "ACMG" "0000818049" "0" "90" "7" "142459788" "142459788" "subst" "0" "04138" "PRSS1_000002" "g.142459788C>T" "" "" "" "" "" "Germline" "?" "rs111033568" "0" "" "" "g.142751937C>T" "{CV:11883}" "pathogenic" "ACMG" "0000818050" "0" "50" "7" "142460715" "142460715" "subst" "0" "04138" "PRSS1_000066" "g.142460715C>T" "" "" "" "" "" "Germline" "?" "rs375342697" "0" "" "" "g.142752864C>T" "" "VUS" "ACMG" "0000818051" "0" "50" "7" "142460715" "142460715" "subst" "0" "04138" "PRSS1_000066" "g.142460715C>T" "" "" "" "" "" "Germline" "?" "rs375342697" "" "" "" "" "" "VUS" "ACMG" "0000818054" "0" "70" "7" "142458414" "142458414" "subst" "0" "04138" "PRSS1_000062" "g.142458414C>A" "" "{PMID:Németh 2017:29215622}, {DOI:Németh 2017:10.1038/ajg.2017.393.}" "" "" "Authors suggest similar biochemical effect as known pathogenic variant, p.A16V" "De novo" "" "" "0" "" "" "g.142750563C>A" "" "likely pathogenic" "" "0000818071" "0" "70" "7" "142460395" "142460395" "subst" "0" "04138" "PRSS1_000065" "g.142460395G>A" "" "{PMID:Jancsó 2019:30792736}, {DOI:Jancsó 2019:10.3389/fgene.2019.00046}" "" "" "" "Germline" "?" "" "0" "" "" "g.142752544G>A" "" "likely pathogenic" "" "0000818135" "1" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "" "{PMID:Truninger 2001:11138965}, {DOI:Truninger 2001:10.1097/00006676-200101000-00003}" "" "R117H" "" "Germline" "yes" "rs111033565" "0" "" "" "g.142751938G>A" "" "pathogenic (dominant)" "" "0000818154" "0" "70" "7" "142458412" "142458412" "subst" "0" "04138" "PRSS1_000044" "g.142458412C>T" "2/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "A16V" "" "Germline" "" "rs202003805" "0" "" "" "g.142750561C>T" "{CV:38363}" "likely pathogenic" "" "0000818156" "0" "70" "7" "142458412" "142458412" "subst" "0" "04138" "PRSS1_000044" "g.142458412C>T" "2/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "A16V" "" "Germline" "" "rs202003805" "0" "" "" "g.142750561C>T" "{CV:38363}" "likely pathogenic" "" "0000818159" "0" "50" "7" "142459659" "142459659" "subst" "0" "04138" "PRSS1_000057" "g.142459659G>A" "1/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "E79K" "" "Germline" "" "rs111033564" "0" "" "" "g.142751808G>A" "{CV: 11880}" "VUS" "" "0000818162" "0" "50" "7" "142459659" "142459659" "subst" "0" "04138" "PRSS1_000057" "g.142459659G>A" "2/400 controls" "{PMID:Chen 2001:11260229} {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "E79K" "The variant is found in 2 healthy controls in addition to 1 affected patient with idiopathic chronic pancreatitis" "Germline" "" "rs111033564" "0" "" "" "g.142751808G>A" "{CV:11880}" "VUS" "" "0000818163" "0" "50" "7" "142459672" "142459672" "subst" "0" "04138" "PRSS1_000070" "g.142459672G>A" "1/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "G83E" "" "Germline" "" "" "0" "" "" "g.142751821G>A" "" "VUS" "" "0000818164" "0" "50" "7" "142459700" "142459700" "subst" "0" "04138" "PRSS1_000069" "g.142459700G>T" "1/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "K92N" "" "Germline" "?" "" "0" "" "" "g.142751849G>T" "" "VUS" "" "0000818165" "0" "90" "7" "142459789" "142459790" "delins" "0" "04138" "PRSS1_000072" "g.142459789_142459790delinsAT" "1/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "CGC>CAT R122H" "" "Germline" "" "rs267606982" "0" "" "" "g.142751938_142751939delinsAT" "{CV:11882}" "likely pathogenic" "" "0000818166" "0" "70" "7" "142459791" "142459791" "subst" "0" "04138" "PRSS1_000068" "g.142459791G>A" "1/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "V123M" "" "Germline" "" "rs144403091" "0" "" "" "g.142751940G>A" "{CV:411136}" "VUS" "" "0000818167" "0" "50" "7" "142458472" "142458472" "subst" "0" "04138" "PRSS1_000071" "g.142458472C>G" "1/221 cases" "{PMID:Chen 2001:11260229}, {DOI:Chen 2001:10.1034/j.1399-0004.2001.590308.x}" "" "P36R" "" "Germline" "" "rs769459903" "0" "" "" "g.142750621C>G" "{CV:459181}" "VUS" "" "0000818168" "21" "50" "7" "142459734" "142459734" "subst" "0" "04138" "PRSS1_000064" "g.142459734C>G" "" "{PMID:Gou 2013:22722260}" "" "310C>G" "variant also found in 2 healthy male relatives" "Germline" "" "" "0" "" "" "g.142751883C>G" "" "VUS" "" "0000819011" "0" "30" "7" "142459841" "142459841" "subst" "0" "00006" "PRSS1_000067" "g.142459841C>T" "" "{PMID:Gou 2013:22722260}, {DOI:Gou 2013:10.1097/MPA.0b013e3182554276}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000819293" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "" "{PMID:Marfil-Garza 2021:34132023}, {DOI:Marfil-Garza 2021:10.1111/ajt.16723}" "" "" "" "Germline" "" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "" "0000819294" "0" "90" "7" "142458451" "142458451" "subst" "0" "04138" "PRSS1_000008" "g.142458451A>C" "1/189 kindreds" "{PMID:Murali 2021:34399810}, {DOI:Murali 2021:10.1186/s13053-021-00190-1}" "" "" "" "Germline" "" "rs111033566" "" "" "" "g.142750600A>C" "{CV:38366}" "pathogenic" "" "0000819295" "0" "90" "7" "142458451" "142458451" "subst" "0" "04138" "PRSS1_000006" "g.142458451A>T" "1/189 kindreds" "{PMID:Murali 2021:34399810}, {DOI:Murali 2021:10.1186/s13053-021-00190-1}" "" "" "" "Germline" "" "rs111033566" "" "" "" "g.142750600A>T" "{CV:11877}" "pathogenic" "" "0000819300" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "1/100 individuals" "{PMID:Ellison 2020:32658084}, {DOI:Ellison 2020:10.1097/MPA.0000000000001612}" "" "" "" "Germline" "" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "ACMG" "0000819303" "0" "10" "7" "142460313" "142460313" "subst" "0" "04138" "PRSS1_000053" "g.142460313T>C" "6.10E−01 in 100 individuals" "{PMID:Ellison 2020:32658084}, {DOI:Ellison 2020:10.1097/MPA.0000000000001612}" "" "" "The authors reported the variant as a \"risk variant haplotype in homozygotes\"" "Germline" "" "rs6666" "0" "" "" "g.142752462T>C" "{CV:239391}" "benign" "ACMG" "0000819304" "0" "10" "7" "142460865" "142460865" "subst" "0" "04138" "PRSS1_000043" "g.142460865T>C" "6.45E−01 in 100 individuals" "{PMID:Ellison 2020:32658084}, {DOI:Ellison 2020:10.1097/MPA.0000000000001612}" "" "N246N" "The authors reported the variant as a \"risk variant haplotype in homozygotes\"" "Germline" "" "rs6667" "0" "" "" "g.142753014T>C" "{CV:258803}" "benign" "ACMG" "0000824971" "0" "70" "7" "142458481" "142458481" "subst" "0" "04138" "PRSS1_000073" "g.142458481T>C" "" "{PMID:Arduino 2005:16227369}, {DOI:Arduino 2005:10.1136/gut.2004.062992}" "" "" "" "Germline" "yes" "rs397507439" "" "" "" "g.142750630T>C" "" "likely pathogenic" "" "0000825306" "0" "70" "7" "142459722" "142459722" "subst" "0" "04138" "PRSS1_000074" "g.142459722G>C" "1/351 cases" "{PMID:Hamoir 2013:23751316}, {DOI:Hamoir 2013:10.1159/000348439}" "" "" "" "Germline" "" "" "" "" "" "g.142751871G>C" "" "likely pathogenic" "" "0000825308" "11" "70" "7" "142459735" "142459735" "subst" "0" "04138" "PRSS1_000075" "g.142459735T>C" "" "{PMID:Enea 2019:29666173}, {DOI:Enea 2019:10.1136/gutjnl-2018-316443}" "" "" "" "Germline" "yes" "rs1554499091" "" "" "" "g.142751884T>C" "{CV:440201}" "likely pathogenic" "" "0000825309" "0" "70" "7" "142459735" "142459735" "subst" "0" "04138" "PRSS1_000075" "g.142459735T>C" "" "{PMID:Enea 2019:29666173}, {DOI:Enea 2019:10.1136/gutjnl-2018-316443}" "" "" "" "Germline" "yes" "rs1554499091" "" "" "" "g.142751884T>C" "{CV:440201}" "likely pathogenic" "" "0000825363" "0" "90" "7" "142458451" "142458451" "subst" "0" "04138" "PRSS1_000006" "g.142458451A>T" "1/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "N29I" "" "Germline" "?" "rs111033566" "" "" "" "g.142750600A>T" "{CV:11877}" "pathogenic" "" "0000825364" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "2/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "R122H" "" "Germline" "" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "" "0000825365" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "2/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "R122H" "" "Germline" "?" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "" "0000825366" "0" "50" "7" "142459722" "142459722" "subst" "0" "04138" "PRSS1_000074" "g.142459722G>C" "1/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "" "" "Germline" "?" "" "" "" "" "g.142751871G>C" "" "VUS" "" "0000825367" "0" "50" "7" "142460640" "142460640" "subst" "0" "04138" "PRSS1_000079" "g.142460640G>A" "1/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "IVS4-79G>A" "" "Germline" "?" "rs531271210" "0" "" "" "g.142752789G>A" "{CV:1167462}" "VUS" "" "0000825368" "0" "50" "7" "142460641" "142460641" "subst" "0" "04138" "PRSS1_000080" "g.142460641G>A" "1/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "IVS-78G>A" "" "Germline" "?" "rs1337286040" "0" "" "" "g.142752790G>A" "" "VUS" "" "0000825373" "0" "10" "7" "142460313" "142460313" "subst" "0" "04138" "PRSS1_000053" "g.142460313T>C" "44/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "GAC>GAT (D162D)" "" "Germline" "?" "rs6666" "0" "" "" "g.142752462T>C" "{CV:239391}" "benign" "" "0000825374" "0" "10" "7" "142460865" "142460865" "subst" "0" "04138" "PRSS1_000043" "g.142460865T>C" "44/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "AAC>AAT (N246N)" "" "Germline" "?" "rs6667" "0" "" "" "g.142753014T>C" "{CV:258803}" "benign" "" "0000825377" "0" "70" "7" "142459770" "142459770" "subst" "0" "04138" "PRSS1_000076" "g.142459770C>T" "1/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "R116C" "The variant was reported at the protein level only" "Germline" "?" "rs387906698" "" "" "" "g.142751919C>T" "{CV:29923}" "likely pathogenic" "" "0000825379" "0" "70" "7" "142459770" "142459770" "subst" "0" "04138" "PRSS1_000076" "g.142459770C>T" "" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "R116C" "The variant was reported at the protein level only" "Germline" "?" "rs387906698" "" "" "" "g.142751919C>T" "{CV:29923}" "likely pathogenic" "" "0000825381" "0" "50" "7" "142459795" "142459795" "subst" "0" "04138" "PRSS1_000077" "g.142459795C>T" "1/660 cases" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "p.S124F" "The variant was reported at the protein level only" "Germline" "?" "rs1484849588" "" "" "" "g.142751944C>T" "" "VUS" "" "0000825382" "0" "90" "7" "142458412" "142458412" "subst" "0" "04138" "PRSS1_000044" "g.142458412C>T" "14/660 cases" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "p.A16V" "The variant was reported at the protein level only" "Germline" "?" "rs202003805" "" "" "" "g.142750561C>T" "{CV:38363}" "pathogenic" "" "0000825383" "0" "90" "7" "142458451" "142458451" "subst" "0" "04138" "PRSS1_000006" "g.142458451A>T" "8/660 cases" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "p.N29I" "The variant was reported at the protein level only" "Germline" "?" "rs111033566" "" "" "" "g.142750600A>T" "{CV:11877}" "pathogenic" "" "0000825384" "0" "90" "7" "142458451" "142458451" "subst" "0" "04138" "PRSS1_000008" "g.142458451A>C" "1/660 cases" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "p.N29T" "The variant was reported at the protein level only" "Germline" "?" "rs111033566" "" "" "" "g.142750600A>C" "{CV:38366}" "pathogenic" "" "0000825385" "0" "90" "7" "142459770" "142459770" "subst" "0" "04138" "PRSS1_000076" "g.142459770C>T" "2/660 cases" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "p.R116C" "The variant was reported at the protein level only" "Germline" "?" "rs387906698" "" "" "" "g.142751919C>T" "{CV:29923}" "pathogenic" "" "0000825386" "0" "90" "7" "142459788" "142459788" "subst" "0" "04138" "PRSS1_000002" "g.142459788C>T" "5/660" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "p.R122C" "The variant was reported at the protein level only" "Germline" "?" "rs111033568" "" "" "" "g.142751937C>T" "{CV:11883}" "pathogenic" "" "0000825387" "0" "90" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "25/660 cases" "{PMID:Rosendahl 2013:22427236}, {DOI:Rosendahl 2013:10.1136/gutjnl-2011-300645}" "" "p.R122H" "The variant was reported at the protein level only" "Germline" "?" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "pathogenic" "" "0000825388" "0" "70" "7" "142459840" "142459840" "subst" "0" "04138" "PRSS1_000078" "g.142459840G>T" "2/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Germline" "?" "rs768853338" "" "" "" "g.142751989G>T" "{CV:618848}" "likely pathogenic" "" "0000825389" "0" "70" "7" "142459840" "142459840" "subst" "0" "04138" "PRSS1_000078" "g.142459840G>T" "2/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Germline" "?" "rs768853338" "" "" "" "g.142751989G>T" "{CV:618848}" "likely pathogenic" "" "0000825482" "0" "70" "7" "142459735" "142459735" "subst" "0" "04138" "PRSS1_000075" "g.142459735T>C" "1/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Germline" "?" "rs1554499091" "" "" "" "g.142751884T>C" "{CV:440201}" "likely pathogenic" "" "0000825483" "0" "70" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "2/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Germline" "?" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "likely pathogenic" "" "0000825484" "0" "70" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "2/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Germline" "?" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "likely pathogenic" "" "0000825653" "0" "70" "7" "142460314" "142460314" "subst" "0" "04138" "PRSS1_000085" "g.142460314G>A" "1/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "" "Germline" "?" "rs557691366" "" "" "" "g.142752463G>A" "{CV:825253}" "likely pathogenic" "" "0000825654" "0" "73" "7" "142460711" "142460711" "subst" "0" "04138" "PRSS1_000039" "g.142460711C>T" "2/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "Although the authors suggested that this variant is one of the \"potentially pathogenic\" variants they have found, the current ACMG classification of this variant is \"benign\"." "Germline" "?" "rs200381474" "0" "" "" "g.142752860C>T" "{CV:416610}" "benign (!)" "" "0000825655" "0" "73" "7" "142460708" "142460708" "subst" "0" "04138" "PRSS1_000005" "g.142460708C>T" "2/80 cases" "{PMID:Sofia 2016:27264265}, {DOI:Sofia 2016:10.2119/molmed.2016.00010}" "" "" "Although the authors suggested that this variant is one of the \"potentially pathogenic\" variants they have found, the current ACMG classification of this variant is \"benign\"." "Germline" "?" "rs183791770" "0" "" "" "g.142752857C>T" "{CV:258800}" "benign (!)" "" "0000825656" "0" "70" "7" "142460750" "142460750" "subst" "0" "04138" "PRSS1_000087" "g.142460750G>C" "7/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "G208A/G" "The variant was reported at the protein level only" "Germline" "?" "rs189270875" "0" "" "" "g.142752899G>C" "{CV:258802}" "likely pathogenic" "" "0000825657" "0" "70" "7" "142460750" "142460750" "subst" "0" "04138" "PRSS1_000087" "g.142460750G>C" "7/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "G208A/G" "The variant was reported at the protein level only" "Germline" "?" "rs189270875" "" "" "" "g.142752899G>C" "{CV:258802}" "likely pathogenic" "" "0000825658" "0" "70" "7" "142460750" "142460750" "subst" "0" "04138" "PRSS1_000087" "g.142460750G>C" "7/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "G208A/G" "The variant was reported at the protein level only" "Germline" "?" "rs189270875" "" "" "" "g.142752899G>C" "{CV:258802}" "likely pathogenic" "" "0000825660" "0" "70" "7" "142460750" "142460750" "subst" "0" "04138" "PRSS1_000087" "g.142460750G>C" "7/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "G208A/G" "The variant was reported at the protein level only" "Germline" "?" "rs189270875" "" "" "" "g.142752899G>C" "{CV:258802}" "likely pathogenic" "" "0000825662" "0" "70" "7" "142460750" "142460750" "subst" "0" "04138" "PRSS1_000087" "g.142460750G>C" "7/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "G208A/G" "The variant was reported at the protein level only" "Germline" "?" "rs189270875" "" "" "" "g.142752899G>C" "{CV:258802}" "likely pathogenic" "" "0000826516" "0" "30" "7" "142458240" "142458240" "subst" "0" "04138" "PRSS1_000081" "g.142458240G>T" "" "" "" "" "" "Germline" "-" "rs182172370" "0" "" "" "g.142750389G>T" "" "likely benign" "ACMG" "0000826906" "0" "70" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "19/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "R122R/H" "The variant was reported at the protein level only" "Germline" "?" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "likely pathogenic" "" "0000826907" "0" "70" "7" "142459789" "142459789" "subst" "0" "04138" "PRSS1_000003" "g.142459789G>A" "19/128 cases" "{PMID:Saito 2016:27409067}, {DOI:Saito 2016:10.1097/MPG.0000000000001320}" "" "R122R/H" "The variant was reported at the protein level only" "Germline" "?" "rs111033565" "" "" "" "g.142751938G>A" "{CV:11876}" "likely pathogenic" "" "0000826908" "21" "70" "7" "142460368" "142460368" "subst" "0" "04138" "PRSS1_000086" "g.142460368A>G" "" "{PMID:Corleto 2010:20950468}, {DOI:Corleto 2010:10.1186/1471-230X-10-119}" "" "" "The variant was also present in the healthy mother of the proband" "Germline" "?" "rs376907511" "" "" "" "g.142752517A>G" "{CV:571921}" "likely pathogenic" "" "0000826909" "0" "70" "7" "142460368" "142460368" "subst" "0" "04138" "PRSS1_000086" "g.142460368A>G" "" "{PMID:Corleto 2010:20950468}, {DOI:Corleto 2010:10.1186/1471-230X-10-119}" "" "" "" "Germline" "?" "rs376907511" "" "" "" "g.142752517A>G" "{CV:571921}" "likely pathogenic" "" "0000826932" "0" "10" "7" "142460261" "142460261" "subst" "0" "04138" "PRSS1_000084" "g.142460261T>A" "" "" "" "" "" "Germline" "-" "rs201825825" "" "" "" "g.142752410T>A" "" "benign" "ACMG" "0000827109" "0" "90" "7" "142458421" "142458421" "subst" "0" "04138" "PRSS1_000082" "g.142458421A>C" "" "" "" "D19A" "" "Germline" "?" "" "" "" "" "g.142750570A>C" "" "pathogenic" "" "0000827759" "0" "90" "7" "142458433" "142458433" "subst" "0" "04138" "PRSS1_000083" "g.142458433A>G" "1/97 acute recurrent idiopathic pancreatitis cases" "{PMID:Jalaly 2017:28440306}, {DOI:Jalaly 2017:10.1038/ajg.2017.106}" "" "K23R" "The variant was reported at the protein level only" "Germline" "?" "rs111033567" "" "" "" "g.142750582A>G" "{CV:11878}" "pathogenic" "" "0000827760" "0" "90" "7" "142458433" "142458433" "subst" "0" "04138" "PRSS1_000083" "g.142458433A>G" "1/59 \"an unexplained first episode of AP <35 years of age\" cases" "{PMID:Jalaly 2017:28440306}, {DOI:Jalaly 2017:10.1038/ajg.2017.106}" "" "K23R" "The variant was reported at the protein level only" "Germline" "?" "rs111033567" "" "" "" "g.142750582A>G" "{CV:11878}" "pathogenic" "" "0000841111" "11" "70" "7" "142459770" "142459770" "subst" "0" "04138" "PRSS1_000076" "g.142459770C>T" "1/109 cases" "{PMID:Tautermann 2001:11842279}, {DOI:Tautermann 2001:10.1159/000048866}" "" "R116C" "The variant was reported at the protein level only" "Germline" "?" "rs387906698" "0" "" "" "g.142751919C>T" "{CV:29923}" "likely pathogenic" "" "0000860672" "0" "10" "7" "142457365" "142457365" "subst" "0" "01804" "PRSS1_000012" "g.142457365G>T" "" "" "" "PRSS1(NM_002769.4):c.30G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924665" "0" "30" "7" "142458526" "142458526" "subst" "0" "02325" "PRSS1_000020" "g.142458526A>G" "" "" "" "PRSS1(NM_002769.5):c.161A>G (p.N54S), PRSS2(NM_001303414.1):c.161A>G (p.N54S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924666" "0" "50" "7" "142458526" "142458526" "subst" "0" "02326" "PRSS1_000020" "g.142458526A>G" "" "" "" "PRSS1(NM_002769.5):c.161A>G (p.N54S), PRSS2(NM_001303414.1):c.161A>G (p.N54S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931640" "1" "50" "7" "142458451" "142458451" "subst" "0" "00006" "PRSS1_000006" "g.142458451A>T" "" "{PMID:Sajan 2019:30478137}" "" "c.86A>T (N29I)" "" "Germline" "" "" "0" "" "" "g.142750600A>T" "" "VUS" "" "0000948863" "0" "50" "7" "142459878" "142459878" "subst" "0" "02327" "PRSS1_000088" "g.142459878G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960060" "0" "90" "7" "142458412" "142458412" "subst" "0" "03779" "PRSS1_000044" "g.142458412C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs202003805" "0" "" "" "" "" "pathogenic" "" "0000964465" "0" "70" "7" "142458451" "142458451" "subst" "0" "02325" "PRSS1_000008" "g.142458451A>C" "" "" "" "PRSS1(NM_002769.5):c.86A>C (p.N29T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000977548" "0" "10" "7" "142460313" "142460313" "subst" "0" "01804" "PRSS1_000053" "g.142460313T>C" "" "" "" "PRSS1(NM_002769.5):c.486T>C (p.(Asp162=), p.D162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001011505" "0" "90" "7" "142458451" "142458451" "subst" "0" "04749" "PRSS1_000006" "g.142458451A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.142750600A>T" "" "pathogenic" "" "0001025354" "0" "50" "7" "142457373" "142457373" "subst" "0" "02327" "PRSS1_000089" "g.142457373C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025355" "0" "50" "7" "142458566" "142458566" "subst" "0" "02325" "PRSS1_000026" "g.142458566G>A" "" "" "" "PRSS1(NM_002769.5):c.200+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059046" "0" "90" "7" "142459770" "142459770" "subst" "0" "00006" "PRSS1_000076" "g.142459770C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.142751919C>T" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PRSS1 ## Count = 139 "{{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}}" "0000063780" "00016957" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000063781" "00016957" "10" "200" "44" "200" "44" "c.200+44C>G" "r.(=)" "p.(=)" "" "0000063782" "00016957" "10" "200" "45" "200" "45" "c.200+45T>G" "r.(=)" "p.(=)" "" "0000063783" "00016957" "50" "592" "-24" "592" "-24" "c.592-24C>T" "r.(=)" "p.(=)" "" "0000063784" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000063785" "00016957" "10" "592" "-11" "592" "-11" "c.592-11C>T" "r.(=)" "p.(=)" "" "0000063786" "00016957" "90" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "" "0000150683" "00016957" "90" "86" "0" "86" "0" "c.86A>C" "r.(?)" "p.(Asn29Thr)" "" "0000248217" "00016957" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "" "0000249108" "00016957" "10" "200" "402" "200" "402" "c.200+402A>T" "r.(=)" "p.(=)" "" "0000250920" "00016957" "10" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Lys170Glu)" "" "0000254048" "00016957" "30" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(Lys225Arg)" "" "0000254053" "00016957" "30" "40" "7" "40" "7" "c.40+7A>T" "r.(=)" "p.(=)" "" "0000297399" "00016957" "10" "200" "407" "200" "407" "c.200+407T>C" "r.(=)" "p.(=)" "" "0000297400" "00016957" "10" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Ser181Asn)" "" "0000297401" "00016957" "10" "738" "0" "738" "0" "c.738T>C" "r.(?)" "p.(Asn246=)" "" "0000301245" "00016957" "10" "542" "0" "542" "0" "c.542G>A" "r.(?)" "p.(Ser181Asn)" "" "0000306503" "00016957" "30" "121" "0" "121" "0" "c.121C>T" "r.(?)" "p.(Leu41=)" "" "0000306504" "00016957" "10" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Arg68Cys)" "" "0000306505" "00016957" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ser149=)" "" "0000306506" "00016957" "10" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Pro17Ser)" "" "0000306507" "00016957" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Phe184=)" "" "0000306508" "00016957" "30" "561" "0" "561" "0" "c.561C>T" "r.(?)" "p.(Gly187=)" "" "0000306509" "00016957" "30" "592" "-8" "592" "-8" "c.592-8C>T" "r.(=)" "p.(=)" "" "0000306510" "00016957" "30" "592" "-9" "592" "-9" "c.592-9T>C" "r.(=)" "p.(=)" "" "0000306511" "00016957" "30" "637" "0" "637" "0" "c.637G>A" "r.(?)" "p.(Val213Ile)" "" "0000331911" "00016957" "30" "652" "0" "652" "0" "c.652G>T" "r.(?)" "p.(Asp218Tyr)" "" "0000531024" "00016957" "30" "44" "0" "44" "0" "c.44C>G" "r.(?)" "p.(Ala15Gly)" "" "0000531029" "00016957" "30" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Pro17Ser)" "" "0000531030" "00016957" "50" "146" "0" "146" "0" "c.146G>T" "r.(?)" "p.(Gly49Val)" "" "0000531041" "00016957" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Ile78=)" "" "0000531042" "00016957" "70" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000531043" "00016957" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000531044" "00016957" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000531045" "00016957" "30" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Ala134Thr)" "" "0000531047" "00016957" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Asp162=)" "" "0000531048" "00016957" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Asp162=)" "" "0000531049" "00016957" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Asp162=)" "" "0000531051" "00016957" "30" "547" "0" "547" "0" "c.547A>G" "r.(?)" "p.(Met183Val)" "" "0000531055" "00016957" "30" "651" "0" "651" "0" "c.651T>C" "r.(?)" "p.(Gly217=)" "" "0000531058" "00016957" "30" "654" "0" "654" "0" "c.654T>C" "r.(?)" "p.(Asp218=)" "" "0000531059" "00016957" "30" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(Lys225Arg)" "" "0000531060" "00016957" "10" "738" "0" "738" "0" "c.738T>C" "r.(?)" "p.(Asn246=)" "" "0000610883" "00016957" "10" "40" "0" "40" "0" "c.40C>G" "r.(?)" "p.(Leu14Val)" "" "0000610884" "00016957" "30" "200" "13" "200" "13" "c.200+13C>T" "r.(=)" "p.(=)" "" "0000610885" "00016957" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "" "0000610886" "00016957" "70" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "" "0000721318" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "" "0000734757" "00016957" "30" "591" "64" "591" "64" "c.591+64G>T" "r.(=)" "p.(=)" "" "0000734758" "00016957" "30" "591" "77" "591" "77" "c.591+77A>C" "r.(=)" "p.(=)" "" "0000734759" "00016957" "30" "591" "85" "591" "85" "c.591+85T>C" "r.(=)" "p.(=)" "" "0000802973" "00016957" "30" "675" "0" "675" "0" "c.675G>T" "r.(?)" "p.(Lys225Asn)" "" "0000817283" "00016957" "50" "310" "0" "310" "0" "c.310C>G" "r.(?)" "p.(Leu104Val)" "3" "0000817292" "00016957" "50" "310" "0" "310" "0" "c.310C>G" "r.(?)" "p.(Leu104Val)" "3" "0000817297" "00016957" "50" "310" "0" "310" "0" "c.310C>G" "r.(?)" "p.(Leu104Val)" "3" "0000817712" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000817715" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000817717" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000817718" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000818047" "00016957" "90" "62" "0" "62" "0" "c.62A>C" "r.(?)" "p.(Asp21Ala)" "2" "0000818049" "00016957" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "3" "0000818050" "00016957" "50" "592" "-4" "592" "-4" "c.592-4C>T" "r.(?)" "p.(=)" "" "0000818051" "00016957" "50" "592" "-4" "592" "-4" "c.592-4C>T" "r.spl?" "p.?" "" "0000818054" "00016957" "70" "49" "0" "49" "0" "c.49C>A" "r.(?)" "p.(Pro17Thr)" "2" "0000818071" "00016957" "70" "568" "0" "568" "0" "c.568G>A" "r.(?)" "p.(Glu190Lys)" "4" "0000818135" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "2" "0000818154" "00016957" "70" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Ala16Val)" "2" "0000818156" "00016957" "70" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Ala16Val)" "2" "0000818159" "00016957" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "3" "0000818162" "00016957" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Glu79Lys)" "3" "0000818163" "00016957" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "3" "0000818164" "00016957" "50" "276" "0" "276" "0" "c.276G>T" "r.(?)" "p.(Lys92Asn)" "3" "0000818165" "00016957" "90" "365" "0" "366" "0" "c.365_366delinsAT" "r.(?)" "p.(Arg122His)" "3" "0000818166" "00016957" "70" "367" "0" "367" "0" "c.367G>A" "r.(?)" "p.(Val123Met)" "3" "0000818167" "00016957" "50" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Pro36Arg)" "2" "0000818168" "00016957" "50" "310" "0" "310" "0" "c.310C>G" "r.(?)" "p.(Leu104Val)" "3" "0000819011" "00016957" "30" "417" "0" "417" "0" "c.417C>T" "r.(=)" "p.(=)" "" "0000819293" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000819294" "00016957" "90" "86" "0" "86" "0" "c.86A>C" "r.(?)" "p.(Asn29Thr)" "2" "0000819295" "00016957" "90" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "2" "0000819300" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000819303" "00016957" "10" "486" "0" "486" "0" "c.486T>C" "r.(=)" "p.(Asp162=)" "4" "0000819304" "00016957" "10" "738" "0" "738" "0" "c.738T>C" "r.(=)" "p.(Asn246=)" "5" "0000824971" "00016957" "70" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Val39Ala)" "2" "0000825306" "00016957" "70" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Asp100His)" "3" "0000825308" "00016957" "70" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Leu104Pro)" "3" "0000825309" "00016957" "70" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Leu104Pro)" "3" "0000825363" "00016957" "90" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "2" "0000825364" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000825365" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000825366" "00016957" "50" "298" "0" "298" "0" "c.298G>C" "r.(?)" "p.(Asp100His)" "3" "0000825367" "00016957" "50" "592" "-79" "592" "-79" "c.592-79G>A" "r.spl?" "p.(?)" "4i" "0000825368" "00016957" "50" "592" "-78" "592" "-78" "c.592-78G>A" "r.spl?" "p.(?)" "4i" "0000825373" "00016957" "10" "486" "0" "486" "0" "c.486T>C" "r.(=)" "p.(Asp162=)" "4" "0000825374" "00016957" "10" "738" "0" "738" "0" "c.738T>C" "r.(=)" "p.(Asn46=)" "5" "0000825377" "00016957" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Cys)" "3" "0000825379" "00016957" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Cys)" "3" "0000825381" "00016957" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Ser124Phe)" "3" "0000825382" "00016957" "90" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Ala16Val)" "2" "0000825383" "00016957" "90" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "2" "0000825384" "00016957" "90" "86" "0" "86" "0" "c.86A>C" "r.(?)" "p.(Asn29Thr)" "2" "0000825385" "00016957" "90" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Cys)" "3" "0000825386" "00016957" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Arg122Cys)" "3" "0000825387" "00016957" "90" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000825388" "00016957" "70" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Cys139Phe)" "3" "0000825389" "00016957" "70" "416" "0" "416" "0" "c.416G>T" "r.(?)" "p.(Cys139Phe)" "3" "0000825482" "00016957" "70" "311" "0" "311" "0" "c.311T>C" "r.(?)" "p.(Leu104Pro)" "3" "0000825483" "00016957" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000825484" "00016957" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000825653" "00016957" "70" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Ala163Thr)" "4" "0000825654" "00016957" "73" "592" "-8" "592" "-8" "c.592-8C>T" "r.(=)" "p.(=)" "" "0000825655" "00016957" "73" "592" "-11" "592" "-11" "c.592-11C>T" "r.(=)" "p.(=)" "" "0000825656" "00016957" "70" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Gly208Ala)" "5" "0000825657" "00016957" "70" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Gly208Ala)" "5" "0000825658" "00016957" "70" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Gly208Ala)" "5" "0000825660" "00016957" "70" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Gly208Ala)" "5" "0000825662" "00016957" "70" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Gly208Ala)" "5" "0000826516" "00016957" "30" "41" "-166" "41" "-166" "c.41-166G>T" "r.spl?" "p.(?)" "" "0000826906" "00016957" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000826907" "00016957" "70" "365" "0" "365" "0" "c.365G>A" "r.(?)" "p.(Arg122His)" "3" "0000826908" "00016957" "70" "541" "0" "541" "0" "c.541A>G" "r.(?)" "p.(Ser181Gly)" "4" "0000826909" "00016957" "70" "541" "0" "541" "0" "c.541A>G" "r.(?)" "p.(Ser181Gly)" "4" "0000826932" "00016957" "10" "455" "-21" "455" "-21" "c.455-21T>A" "r.(?), r.spl?" "p.(=), p.(?)" "" "0000827109" "00016957" "90" "56" "0" "56" "0" "c.56A>C" "r.(?)" "p.(Asp19Ala)" "2" "0000827759" "00016957" "90" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Lys23Arg)" "2" "0000827760" "00016957" "90" "68" "0" "68" "0" "c.68A>G" "r.(?)" "p.(Lys23Arg)" "2" "0000841111" "00016957" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Cys)" "3" "0000860672" "00016957" "10" "30" "0" "30" "0" "c.30G>T" "r.(?)" "p.(Val10=)" "" "0000924665" "00016957" "30" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Asn54Ser)" "" "0000924666" "00016957" "50" "161" "0" "161" "0" "c.161A>G" "r.(?)" "p.(Asn54Ser)" "" "0000931640" "00016957" "50" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "" "0000948863" "00016957" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Ala152Thr)" "" "0000960060" "00016957" "90" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Ala16Val)" "" "0000964465" "00016957" "70" "86" "0" "86" "0" "c.86A>C" "r.(?)" "p.(Asn29Thr)" "" "0000977548" "00016957" "10" "486" "0" "486" "0" "c.486T>C" "r.(?)" "p.(Asp162=)" "" "0001011505" "00016957" "90" "86" "0" "86" "0" "c.86A>T" "r.(?)" "p.(Asn29Ile)" "" "0001025354" "00016957" "50" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ala13Val)" "" "0001025355" "00016957" "50" "200" "1" "200" "1" "c.200+1G>A" "r.spl?" "p.?" "" "0001059046" "00016957" "90" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Arg116Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000036655" "0000063780" "0000036656" "0000063781" "0000036657" "0000063782" "0000036658" "0000063783" "0000036659" "0000063784" "0000036660" "0000063785" "0000036661" "0000063786" "0000092379" "0000150683" "0000335845" "0000734757" "0000335846" "0000734758" "0000335847" "0000734759" "0000388584" "0000817283" "0000388593" "0000817292" "0000388597" "0000817297" "0000388919" "0000817712" "0000388921" "0000817715" "0000388924" "0000817717" "0000388925" "0000817718" "0000389163" "0000818047" "0000389165" "0000818049" "0000389166" "0000818050" "0000389166" "0000818051" "0000389170" "0000818054" "0000389185" "0000818071" "0000389217" "0000818135" "0000389243" "0000818154" "0000389245" "0000818156" "0000389247" "0000818159" "0000389249" "0000818162" "0000389250" "0000818163" "0000389251" "0000818164" "0000389252" "0000818165" "0000389253" "0000818166" "0000389254" "0000818167" "0000389255" "0000818168" "0000389767" "0000819011" "0000389950" "0000819293" "0000389951" "0000819294" "0000389952" "0000819295" "0000389955" "0000819300" "0000389958" "0000819303" "0000389959" "0000819304" "0000394060" "0000824971" "0000394392" "0000825306" "0000394393" "0000825308" "0000394394" "0000825309" "0000394447" "0000825363" "0000394448" "0000825364" "0000394449" "0000825365" "0000394450" "0000825366" "0000394451" "0000825367" "0000394452" "0000825368" "0000394457" "0000825373" "0000394458" "0000825374" "0000394461" "0000825377" "0000394463" "0000825379" "0000394465" "0000825381" "0000394466" "0000825382" "0000394467" "0000825383" "0000394468" "0000825384" "0000394469" "0000825385" "0000394470" "0000825386" "0000394471" "0000825387" "0000394472" "0000825388" "0000394473" "0000825389" "0000394553" "0000825482" "0000394554" "0000825483" "0000394555" "0000825484" "0000394680" "0000825653" "0000394681" "0000825654" "0000394682" "0000825655" "0000394683" "0000825656" "0000394684" "0000825657" "0000394685" "0000825658" "0000394686" "0000825660" "0000394687" "0000825662" "0000395257" "0000826516" "0000395552" "0000826906" "0000395553" "0000826907" "0000395554" "0000826908" "0000395555" "0000826909" "0000395565" "0000826932" "0000395715" "0000827109" "0000396212" "0000827759" "0000396213" "0000827760" "0000405060" "0000841111" "0000436941" "0000931640" "0000457064" "0001011505" "0000470924" "0001059046"