### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TJP2) # 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}}" "TJP2" "tight junction protein 2" "9" "q13-q21" "unknown" "NG_016342.1" "UD_134408243164" "" "http://www.LOVD.nl/TJP2" "" "1" "11828" "9414" "607709" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TJP2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-02-18 05:03:17" "00006" "2025-10-22 11:13:07" ## 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}}" "00024108" "TJP2" "transcript variant 1" "002" "NM_004817.3" "" "NP_004808.2" "" "" "" "-318" "4407" "3573" "71788971" "71870124" "00006" "2016-02-18 05:02:14" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "01686" "PFIC1" "cholestasis, intrahepatic, familial, progressive, type 1 (PFIC-1)" "AR" "211600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02701" "FHCA" "hypercholanemia, familial (FHCA)" "AR" "607748" "" "" "autosomal recessive" "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" "05033" "PFIC4" "cholestasis, intrahepatic, familial, progressive, type 4 (PFIC-4)" "AR" "615878" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05131" "DFNA51" "deafness, autosomal dominant, type 51 (DFNA-51)" "" "613558" "" "" "" "00006" "2016-02-18 05:14:45" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05432" "PFIC" "cholestasis, intrahepatic, familial, progressive (PFIC)" "" "" "" "" "" "00006" "2018-05-30 09:45:17" "00006" "2018-05-30 09:54:27" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TJP2" "02701" "TJP2" "05033" "TJP2" "05432" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{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}}" "00059029" "" "" "" "7" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Tunisia;Jewish" "" "00059197" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059198" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060264" "" "" "" "28" "" "01542" "{PMID:Walsh 2010:20602916}, {DOI:Walsh 2010:10.1016/j.ajhg.2010.05.011}" "large 4-generation family, 28 affecteds" "" "no" "Israel" "" "0" "" "" "Iraq;Jewish" "" "00080996" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00081043" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00117293" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1324" "00284109" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284110" "" "" "" "1" "" "00004" "{PMID:Carlton 2003:12704386}" "" "" "" "" "" "0" "" "" "" "" "00284111" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284112" "" "" "" "1" "" "00004" "{PMID:Sambrotta 2014:24614073}" "" "" "" "" "" "0" "" "" "" "" "00284113" "" "" "" "1" "" "00004" "{PMID:Sambrotta 2014:24614073}" "" "" "" "" "" "0" "" "" "" "" "00284114" "" "" "" "1" "" "00004" "{PMID:Zhou 2015:25921221}" "" "" "" "" "" "0" "" "" "" "" "00284115" "" "" "" "1" "" "00004" "{PMID:Sambrotta 2014:24614073}" "" "" "" "" "" "0" "" "" "" "" "00284116" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284117" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284118" "" "" "" "1" "" "00004" "{PMID:Richards 2015:25741868}" "" "" "" "" "" "0" "" "" "" "" "00284119" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284120" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284121" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284122" "" "" "" "1" "" "00004" "{PMID:Sambrotta 2014:24614073}" "" "" "" "" "" "0" "" "" "" "" "00284123" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284124" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284125" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284126" "" "" "" "1" "" "00004" "{PMID:Sambrotta 2014:24614073}" "" "" "" "" "" "0" "" "" "" "" "00284127" "" "" "" "1" "" "00004" "{PMID:Sambrotta 2014:24614073}" "" "" "" "" "" "0" "" "" "" "" "00284128" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284129" "" "" "" "1" "" "00004" "{PMID:Zhou 2015:25921221}" "" "" "" "" "" "0" "" "" "" "" "00284130" "" "" "" "1" "" "00004" "{PMID:Zhou 2015:25921221}" "" "" "" "" "" "0" "" "" "" "" "00284131" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284132" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284133" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284134" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284135" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284136" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284137" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284138" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284139" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284140" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284141" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284142" "" "" "" "1" "" "00004" "{PMID:Kim 2014:24752540}" "" "" "" "" "" "0" "" "" "" "" "00294881" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307441" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam14PatLP12" "00316109" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K156" "00327014" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB406-782" "00384627" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "M" "yes" "Israel" "" "0" "" "" "" "Family 5 patient 1" "00384964" "" "" "" "1" "" "03974" "" "" "" "" "" "" "" "" "" "" "" "00415274" "" "" "" "1" "" "00000" "{PMID:Alfares 2018:30202406}" "" "M" "" "" "" "0" "" "" "" "29" "00441505" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR079" "00441552" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC4599" "00464327" "" "" "" "1" "" "03676" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00464328" "" "" "" "1" "" "03676" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00464329" "" "" "" "1" "" "03676" "" "" "F" "yes" "Egypt" "" "" "" "" "" "" "00464330" "" "" "" "1" "" "03676" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" "00464331" "" "" "" "1" "" "03676" "" "" "M" "yes" "Egypt" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00059029" "05131" "00059197" "00531" "00059198" "00531" "00060264" "05131" "00080996" "05033" "00081043" "05033" "00117293" "05103" "00284110" "00198" "00284112" "00198" "00284113" "00198" "00284114" "00198" "00284115" "00198" "00284122" "00198" "00284126" "00198" "00284127" "00198" "00284129" "00198" "00284130" "00198" "00284142" "05086" "00294881" "00198" "00307441" "05432" "00316109" "05342" "00327014" "05086" "00384627" "00198" "00384964" "05103" "00415274" "04214" "00441505" "05086" "00441552" "00000" "00464327" "01686" "00464328" "05033" "00464329" "05033" "00464330" "05033" "00464331" "05033" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00531, 01686, 02701, 04214, 05033, 05086, 05103, 05131, 05342, 05432 ## Count = 22 "{{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}}" "0000045630" "05131" "00059029" "01542" "Familial, autosomal dominant" "" "High tone hearing loss; variable late onset (20-45y)" "" "" "" "" "" "" "" "" "" "" "" "0000046753" "05131" "00060264" "01542" "Familial, autosomal dominant" "" "Late onset, progressive, high-tone HL" ">30y" "" "" "" "" "" "" "" "" "" "" "0000060565" "05033" "00080996" "01758" "Familial, autosomal recessive" "" "Cholestasis, progressive familial intrahepatic 4 (OMIM:615878)" "" "" "" "" "" "" "" "" "" "" "" "0000060612" "05033" "00081043" "01758" "Familial, autosomal recessive" "" "Cholestasis, progressive familial intrahepatic 4 (OMIM:615878)" "" "" "" "" "" "" "" "" "" "" "" "0000092540" "05103" "00117293" "00110" "Isolated (sporadic)" "23y" "" "<03y" "" "" "" "" "" "" "" "" "" "" "0000216954" "00198" "00284110" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypercholanaemia" "" "0000216955" "00198" "00284112" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cholestatic liver disease, progressive" "" "0000216956" "00198" "00284113" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cholestatic liver disease, progressive" "" "0000216957" "00198" "00284114" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Progressive familial intrahepatic cholestasis" "" "0000216958" "00198" "00284115" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cholestatic liver disease, progressive" "" "0000216959" "00198" "00284122" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cholestatic liver disease, progressive" "" "0000216960" "00198" "00284126" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cholestatic liver disease, progressive" "" "0000216961" "00198" "00284127" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cholestatic liver disease, progressive" "" "0000216962" "00198" "00284129" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Progressive familial intrahepatic cholestasis" "" "0000216963" "00198" "00284130" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 4" "Progressive familial intrahepatic cholestasis" "" "0000218214" "05086" "00284142" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000233155" "05432" "00307441" "00006" "Familial, autosomal recessive" "6m" "characteristic phenotype (cholestatic liver cirrhosis, low gamma-glutamyltransferase)" "" "" "" "" "" "" "" "" "" "progressive familial intrahepatic cholestasis" "" "0000239856" "05342" "00316109" "00006" "Unknown" "" "renal dysplasia; cysts; vesico-ureteral reflux" "" "" "" "" "" "" "" "" "" "renal dysplasia" "" "0000278417" "00198" "00384627" "00000" "Unknown" "" "Retinitis pigmentosa (?) and hearing loss (AD?) and cholestatic liver disease (AR)" "" "" "" "" "" "" "" "" "Mixed" "Syndromic retinitis pigmentosa" "" "0000278745" "05103" "00384964" "03974" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000307072" "04214" "00415274" "00000" "Familial, autosomal recessive" "" "OMIM: 615878; cholestatic jaundice and elevated liver enzymes" "" "" "" "" "" "" "" "" "PFIC type 4" "" "" "0000330943" "05086" "00441505" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058995" "00059029" "1" "01542" "01542" "2016-02-16 00:30:01" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000059180" "00059197" "1" "01551" "01551" "2016-03-01 08:50:00" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000059181" "00059198" "1" "01551" "01551" "2016-03-01 08:52:57" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060250" "00060264" "1" "01542" "01542" "2016-03-23 08:50:42" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000081108" "00080996" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000081155" "00081043" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000117761" "00117293" "1" "00110" "00110" "2017-08-17 14:49:18" "" "" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000285259" "00284109" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285260" "00284110" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285261" "00284111" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285262" "00284112" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285263" "00284113" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285264" "00284114" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285265" "00284115" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285266" "00284116" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285267" "00284117" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285268" "00284118" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285269" "00284119" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285270" "00284120" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285271" "00284121" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285272" "00284122" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285273" "00284123" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285274" "00284124" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285275" "00284125" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285276" "00284126" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285277" "00284127" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285278" "00284128" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285279" "00284129" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285280" "00284130" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285281" "00284131" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285282" "00284132" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285283" "00284133" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285284" "00284134" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285285" "00284135" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285286" "00284136" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285287" "00284137" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285288" "00284138" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285289" "00284139" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285290" "00284140" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285291" "00284141" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285292" "00284142" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000296049" "00294881" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308580" "00307441" "1" "00006" "00006" "2020-08-13 16:04:48" "" "" "SEQ" "DNA" "" "" "0000317291" "00316109" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000328229" "00327014" "1" "03611" "03611" "2021-01-19 03:04:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000385855" "00384627" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000386191" "00384964" "1" "03974" "03974" "2021-10-05 21:52:38" "" "" "SEQ-NG" "DNA" "" "" "0000416556" "00415274" "1" "00000" "03840" "2022-08-10 20:39:58" "" "" "SEQ-NG" "DNA" "" "exome sequencing done at a commercial CAPaccredited laboratory" "0000442991" "00441505" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443038" "00441552" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000465958" "00464327" "1" "03676" "03676" "2025-03-03 12:10:53" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465959" "00464328" "1" "03676" "03676" "2025-03-03 12:16:04" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465960" "00464329" "1" "03676" "03676" "2025-03-03 12:22:32" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465961" "00464330" "1" "03676" "03676" "2025-03-03 12:30:55" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000465962" "00464331" "1" "03676" "03676" "2025-03-03 12:35:30" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{geneid}}" "0000059180" "TJP2" "0000059181" "TJP2" "0000081108" "TJP2" "0000081155" "TJP2" "0000117761" "TJP2" "0000285259" "TJP2" "0000285260" "TJP2" "0000285261" "TJP2" "0000285262" "TJP2" "0000285263" "TJP2" "0000285264" "TJP2" "0000285265" "TJP2" "0000285266" "TJP2" "0000285267" "TJP2" "0000285268" "TJP2" "0000285269" "TJP2" "0000285270" "TJP2" "0000285271" "TJP2" "0000285272" "TJP2" "0000285273" "TJP2" "0000285274" "TJP2" "0000285275" "TJP2" "0000285276" "TJP2" "0000285277" "TJP2" "0000285278" "TJP2" "0000285279" "TJP2" "0000285280" "TJP2" "0000285281" "TJP2" "0000285282" "TJP2" "0000285283" "TJP2" "0000285284" "TJP2" "0000285285" "TJP2" "0000285286" "TJP2" "0000285287" "TJP2" "0000285288" "TJP2" "0000285289" "TJP2" "0000285290" "TJP2" "0000285291" "TJP2" "0000285292" "TJP2" "0000308580" "TJP2" "0000317291" "TJP2" "0000385855" "TJP2" "0000386191" "TJP2" "0000416556" "TJP2" ## 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 = 117 "{{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}}" "0000089793" "11" "90" "9" "71841092" "71841092" "dup" "0" "01542" "TJP2_000001" "g.(71706000_71841092)_(71841092_71841092)dup" "" "" "" "c.1_1374dup/p.1_352dup g.71704982_71840362dup" "˜135 kb duplication exons 1 to 7" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000090007" "0" "50" "9" "71836322" "71836322" "subst" "0" "01551" "TJP2_000002" "g.71836322G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000090008" "0" "50" "9" "71836347" "71836347" "subst" "0.000290493" "01551" "TJP2_000003" "g.71836347G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000091247" "11" "90" "9" "71974823" "71974824" "ins" "0" "01542" "TJP2_000000" "g.71974823_71974824ins71705804_71974823inv" "" "{PMID:Walsh 2010:20602916}, {DOI:Walsh 2010:10.1016/j.ajhg.2010.05.011}" "" "" "variant associated with disease phenotype; chr9 269 kb inverted duplication (71705804_71974823) containing the entire TJP2 gene, upregulating normal expression\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 35: Syntax error). Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000130194" "3" "70" "9" "71840267" "71840267" "subst" "0" "01758" "TJP2_000004" "g.71840267C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.69225351C>T" "" "likely pathogenic" "ACMG" "0000130241" "3" "70" "9" "71840267" "71840267" "subst" "0" "01758" "TJP2_000004" "g.71840267C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.69225351C>T" "" "likely pathogenic" "ACMG" "0000188774" "0" "70" "9" "71863140" "71863140" "subst" "0" "00110" "TJP2_000005" "g.71863140G>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "De novo" "" "" "0" "" "" "g.69248224G>A" "" "likely pathogenic" "" "0000311857" "0" "10" "9" "71843023" "71843023" "subst" "0.812071" "02325" "TJP2_000011" "g.71843023C>A" "" "" "" "TJP2(NM_004817.4):c.1446C>A (p.D482E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69228107C>A" "" "benign" "" "0000314522" "0" "90" "9" "71855006" "71855006" "subst" "4.06276E-6" "02326" "TJP2_000013" "g.71855006C>T" "" "" "" "TJP2(NM_004817.4):c.2509C>T (p.R837*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69240090C>T" "" "pathogenic" "" "0000316628" "0" "70" "9" "71840267" "71840267" "del" "0" "01943" "TJP2_000008" "g.71840267del" "" "" "" "TJP2(NM_004817.4):c.1000delC (p.R334Efs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69225351del" "" "likely pathogenic" "" "0000316629" "0" "30" "9" "71840272" "71840272" "subst" "0.000170657" "01943" "TJP2_000009" "g.71840272G>A" "" "" "" "TJP2(NM_004817.4):c.1005G>A (p.T335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69225356G>A" "" "likely benign" "" "0000316630" "0" "10" "9" "71840972" "71840972" "subst" "0.00166121" "01943" "TJP2_000010" "g.71840972C>T" "" "" "" "TJP2(NM_004817.4):c.1091C>T (p.T364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69226056C>T" "" "benign" "" "0000316631" "0" "30" "9" "71831325" "71831325" "subst" "0.00147405" "01943" "TJP2_000006" "g.71831325C>T" "" "" "" "TJP2(NM_004817.4):c.185C>T (p.T62M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69216409C>T" "" "likely benign" "" "0000316632" "0" "50" "9" "71851900" "71851900" "subst" "6.49773E-5" "01943" "TJP2_000012" "g.71851900G>C" "" "" "" "TJP2(NM_004817.4):c.2027G>C (p.R676T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69236984G>C" "" "VUS" "" "0000316633" "0" "30" "9" "71863119" "71863119" "subst" "0.000114609" "01943" "TJP2_000014" "g.71863119G>T" "" "" "" "TJP2(NM_004817.4):c.2859G>T (p.S953=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69248203G>T" "" "likely benign" "" "0000316634" "0" "30" "9" "71865943" "71865943" "subst" "0.00119966" "01943" "TJP2_000015" "g.71865943C>T" "" "" "" "TJP2(NM_004817.4):c.2992-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69251027C>T" "" "likely benign" "" "0000316635" "0" "30" "9" "71866194" "71866194" "subst" "2.43706E-5" "01943" "TJP2_000016" "g.71866194C>T" "" "" "" "TJP2(NM_004817.4):c.3235C>T (p.L1079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69251278C>T" "" "likely benign" "" "0000316636" "0" "50" "9" "71866210" "71866210" "subst" "8.12374E-6" "01943" "TJP2_000017" "g.71866210T>C" "" "" "" "TJP2(NM_004817.4):c.3251T>C (p.I1084T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69251294T>C" "" "VUS" "" "0000316637" "0" "30" "9" "71867802" "71867802" "subst" "4.46766E-5" "01943" "TJP2_000018" "g.71867802G>A" "" "" "" "TJP2(NM_004817.4):c.3393G>A (p.T1131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69252886G>A" "" "likely benign" "" "0000316638" "0" "30" "9" "71869200" "71869200" "subst" "3.24868E-5" "01943" "TJP2_000019" "g.71869200C>A" "" "" "" "TJP2(NM_004817.4):c.3483C>A (p.A1161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69254284C>A" "" "likely benign" "" "0000316639" "0" "10" "9" "71869212" "71869212" "subst" "0.00500321" "01943" "TJP2_000020" "g.71869212G>A" "" "" "" "TJP2(NM_004817.4):c.3495G>A (p.E1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69254296G>A" "" "benign" "" "0000316640" "0" "50" "9" "71836028" "71836028" "subst" "5.38381E-6" "01943" "TJP2_000007" "g.71836028G>T" "" "" "" "TJP2(NM_004817.4):c.568G>T (p.D190Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69221112G>T" "" "VUS" "" "0000342577" "0" "50" "9" "71836359" "71836359" "subst" "0" "02327" "TJP2_000021" "g.71836359G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69221443G>A" "" "VUS" "" "0000344996" "0" "90" "9" "71855021" "71855021" "subst" "0" "02327" "TJP2_000022" "g.71855021C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69240105C>T" "" "pathogenic" "" "0000346552" "0" "30" "9" "71866210" "71866210" "subst" "8.12374E-6" "02327" "TJP2_000017" "g.71866210T>C" "" "" "" "TJP2(NM_004817.4):c.3251T>C (p.I1084T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69251294T>C" "" "likely benign" "" "0000538414" "0" "30" "9" "71714842" "71714842" "subst" "6.72585E-6" "01943" "FXN_000024" "g.71714842C>T" "" "" "" "FXN(NM_181425.2):NULL" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69099926C>T" "" "likely benign" "" "0000538415" "0" "30" "9" "71820171" "71820171" "subst" "0.000244593" "01943" "TJP2_000023" "g.71820171C>G" "" "" "" "TJP2(NM_001170416.1):c.94C>G (p.P32A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69205255C>G" "" "likely benign" "" "0000538416" "0" "30" "9" "71831388" "71831388" "subst" "8.12513E-6" "01943" "TJP2_000024" "g.71831388C>T" "" "" "" "TJP2(NM_004817.4):c.239+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69216472C>T" "" "likely benign" "" "0000538417" "0" "10" "9" "71831398" "71831398" "subst" "0.9215" "02325" "TJP2_000025" "g.71831398T>C" "" "" "" "TJP2(NM_004817.4):c.239+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69216482T>C" "" "benign" "" "0000538418" "0" "30" "9" "71835855" "71835855" "subst" "0.000330036" "01943" "TJP2_000026" "g.71835855C>G" "" "" "" "TJP2(NM_004817.4):c.395C>G (p.P132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69220939C>G" "" "likely benign" "" "0000538419" "0" "50" "9" "71836313" "71836313" "subst" "0.000481841" "01943" "TJP2_000027" "g.71836313C>T" "" "" "" "TJP2(NM_004817.4):c.853C>T (p.R285C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69221397C>T" "" "VUS" "" "0000538420" "0" "30" "9" "71842725" "71842725" "subst" "8.12473E-6" "01943" "TJP2_000028" "g.71842725A>G" "" "" "" "TJP2(NM_004817.4):c.1255A>G (p.R419G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69227809A>G" "" "likely benign" "" "0000538421" "0" "30" "9" "71842959" "71842959" "subst" "0" "02327" "TJP2_000029" "g.71842959C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69228043C>A" "" "likely benign" "" "0000538422" "0" "30" "9" "71845034" "71845034" "subst" "0" "01943" "TJP2_000030" "g.71845034C>T" "" "" "" "TJP2(NM_004817.4):c.1557C>T (p.D519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69230118C>T" "" "likely benign" "" "0000538423" "0" "30" "9" "71851913" "71851913" "subst" "0.000840712" "02326" "TJP2_000031" "g.71851913G>A" "" "" "" "TJP2(NM_004817.4):c.2040G>A (p.G680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69236997G>A" "" "likely benign" "" "0000538424" "0" "30" "9" "71863011" "71863011" "subst" "0.000259994" "01943" "TJP2_000032" "g.71863011C>T" "" "" "" "TJP2(NM_004817.4):c.2751C>T (p.R917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69248095C>T" "" "likely benign" "" "0000538425" "0" "30" "9" "71865943" "71865943" "subst" "0.00119966" "02326" "TJP2_000015" "g.71865943C>T" "" "" "" "TJP2(NM_004817.4):c.2992-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69251027C>T" "" "likely benign" "" "0000538426" "0" "50" "9" "71866026" "71866026" "subst" "0.000190857" "01943" "TJP2_000033" "g.71866026G>T" "" "" "" "TJP2(NM_004817.4):c.3067G>T (p.A1023S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69251110G>T" "" "VUS" "" "0000538427" "0" "50" "9" "71866027" "71866027" "subst" "0.000300493" "01943" "TJP2_000034" "g.71866027C>T" "" "" "" "TJP2(NM_004817.4):c.3068C>T (p.A1023V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69251111C>T" "" "VUS" "" "0000538428" "0" "30" "9" "71866149" "71866149" "subst" "0.000446719" "01943" "TJP2_000035" "g.71866149G>T" "" "" "" "TJP2(NM_004817.4):c.3190G>T (p.V1064L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69251233G>T" "" "likely benign" "" "0000612159" "0" "30" "9" "71836408" "71836408" "subst" "0" "01943" "TJP2_000038" "g.71836408C>T" "" "" "" "TJP2(NM_004817.4):c.948C>T (p.N316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69221492C>T" "" "likely benign" "" "0000622286" "0" "30" "9" "71789295" "71789295" "subst" "1.34344E-5" "01943" "TJP2_000036" "g.71789295G>C" "" "" "" "TJP2(NM_004817.4):c.7G>C (p.V3L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69174379G>C" "" "likely benign" "" "0000622287" "0" "50" "9" "71831345" "71831345" "subst" "2.84276E-5" "01943" "TJP2_000037" "g.71831345G>A" "" "" "" "TJP2(NM_004817.4):c.205G>A (p.V69M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69216429G>A" "" "VUS" "" "0000641001" "1" "55" "9" "71827458" "71827458" "subst" "0.001243" "00004" "TJP2_000039" "g.71827458A>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69212542A>T" "" "VUS" "" "0000641002" "1" "99" "9" "71831283" "71831283" "subst" "0" "00004" "TJP2_000040" "g.71831283T>C" "" "{DB:DVD}, {PMID:Carlton 2003:12704386}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69216367T>C" "" "pathogenic" "" "0000641003" "1" "55" "9" "71833255" "71833255" "subst" "8.12143E-6" "00004" "TJP2_000041" "g.71833255A>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69218339A>T" "" "VUS" "" "0000641004" "1" "99" "9" "71836226" "71836229" "del" "0" "00004" "TJP2_000042" "g.71836226_71836229del" "" "{DB:DVD}, {PMID:Sambrotta 2014:24614073}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69221310_69221313del" "" "pathogenic" "" "0000641005" "1" "99" "9" "71836242" "71836242" "del" "4.72648E-6" "00004" "TJP2_000043" "g.71836242del" "" "{DB:DVD}, {PMID:Sambrotta 2014:24614073}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69221326del" "" "pathogenic" "" "0000641006" "1" "99" "9" "71836277" "71836277" "del" "0" "00004" "TJP2_000044" "g.71836277del" "" "{DB:DVD}, {PMID:Zhou 2015:25921221}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69221361del" "" "pathogenic" "" "0000641007" "1" "99" "9" "71836345" "71836345" "del" "0" "00004" "TJP2_000045" "g.71836345del" "" "{DB:DVD}, {PMID:Sambrotta 2014:24614073}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69221429del" "" "pathogenic" "" "0000641008" "1" "55" "9" "71836364" "71836364" "subst" "0" "00004" "TJP2_000046" "g.71836364C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69221448C>T" "" "VUS" "" "0000641009" "1" "33" "9" "71836378" "71836378" "subst" "0.000378396" "00004" "TJP2_000047" "g.71836378C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69221462C>T" "" "likely benign" "" "0000641010" "1" "77" "9" "71840268" "71840268" "del" "0" "00004" "TJP2_000048" "g.71840268del" "" "{DB:DVD}, {PMID:Richards 2015:25741868}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69225352del" "" "likely pathogenic" "" "0000641011" "1" "55" "9" "71840302" "71840302" "subst" "1.21984E-5" "00004" "TJP2_000049" "g.71840302C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69225386C>A" "" "VUS" "" "0000641012" "1" "55" "9" "71842683" "71842685" "del" "0" "00004" "TJP2_000050" "g.71842683_71842685del" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69227767_69227769del" "" "VUS" "" "0000641013" "1" "55" "9" "71842728" "71842728" "subst" "0.000430614" "00004" "TJP2_000051" "g.71842728C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69227812C>T" "" "VUS" "" "0000641014" "1" "99" "9" "71842938" "71842938" "del" "0" "00004" "TJP2_000052" "g.71842938del" "" "{DB:DVD}, {PMID:Sambrotta 2014:24614073}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69228022del" "" "pathogenic" "" "0000641015" "1" "55" "9" "71843021" "71843021" "del" "0" "00004" "TJP2_000053" "g.71843021del" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69228105del" "" "VUS" "" "0000641016" "1" "33" "9" "71844991" "71844991" "subst" "0.000142148" "00004" "TJP2_000054" "g.71844991A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69230075A>C" "" "likely benign" "" "0000641017" "1" "33" "9" "71851040" "71851040" "subst" "0.00101946" "00004" "TJP2_000055" "g.71851040C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69236124C>G" "" "likely benign" "" "0000641018" "1" "99" "9" "71851057" "71851057" "subst" "0" "00004" "TJP2_000056" "g.71851057C>T" "" "{DB:DVD}, {PMID:Sambrotta 2014:24614073}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69236141C>T" "" "pathogenic" "" "0000641019" "1" "99" "9" "71851863" "71851863" "subst" "0" "00004" "TJP2_000057" "g.71851863A>G" "" "{DB:DVD}, {PMID:Sambrotta 2014:24614073}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69236947A>G" "" "pathogenic" "" "0000641020" "1" "55" "9" "71852002" "71852002" "subst" "2.43639E-5" "00004" "TJP2_000058" "g.71852002T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69237086T>C" "" "VUS" "" "0000641021" "1" "99" "9" "71854935" "71854935" "dup" "0" "00004" "TJP2_000059" "g.71854935dup" "" "{DB:DVD}, {PMID:Zhou 2015:25921221}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69240019dup" "" "pathogenic" "" "0000641022" "1" "99" "9" "71862927" "71862927" "subst" "0" "00004" "TJP2_000060" "g.71862927G>T" "" "{DB:DVD}, {PMID:Zhou 2015:25921221}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69248011G>T" "" "pathogenic" "" "0000641023" "1" "55" "9" "71863118" "71863118" "subst" "3.07822E-5" "00004" "TJP2_000061" "g.71863118C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69248202C>T" "" "VUS" "" "0000641024" "1" "33" "9" "71863119" "71863119" "subst" "0.000114609" "00004" "TJP2_000014" "g.71863119G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69248203G>T" "" "likely benign" "" "0000641025" "1" "33" "9" "71863125" "71863125" "subst" "0" "00004" "TJP2_000062" "g.71863125G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69248209G>A" "" "likely benign" "" "0000641026" "1" "55" "9" "71863144" "71863144" "subst" "0" "00004" "TJP2_000063" "g.71863144A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69248228A>G" "" "VUS" "" "0000641027" "1" "55" "9" "71863159" "71863159" "subst" "0.000446703" "00004" "TJP2_000064" "g.71863159C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69248243C>T" "" "VUS" "" "0000641028" "1" "33" "9" "71863212" "71863212" "subst" "8.47903E-5" "00004" "TJP2_000065" "g.71863212G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69248296G>A" "" "likely benign" "" "0000641029" "1" "33" "9" "71864380" "71864380" "subst" "2.12788E-5" "00004" "TJP2_000066" "g.71864380A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69249464A>G" "" "likely benign" "" "0000641030" "1" "55" "9" "71864397" "71864397" "subst" "1.331E-5" "00004" "TJP2_000067" "g.71864397C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69249481C>T" "" "VUS" "" "0000641031" "1" "33" "9" "71866022" "71866022" "subst" "4.46686E-5" "00004" "TJP2_000068" "g.71866022C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69251106C>T" "" "likely benign" "" "0000641032" "1" "55" "9" "71869217" "71869217" "subst" "1.62439E-5" "00004" "TJP2_000069" "g.71869217G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69254301G>A" "" "VUS" "" "0000641033" "1" "55" "9" "71869274" "71869274" "subst" "4.06369E-5" "00004" "TJP2_000070" "g.71869274G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69254358G>A" "" "VUS" "" "0000641034" "1" "99" "9" "71869279" "71869279" "subst" "6.90855E-5" "00004" "TJP2_000071" "g.71869279A>G" "" "{DB:DVD}, {PMID:Kim 2014:24752540}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.69254363A>G" "" "pathogenic" "" "0000652738" "1" "50" "9" "71833267" "71833267" "subst" "0.000239676" "03575" "TJP2_000072" "g.71833267G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs144396411}" "Germline" "" "rs144396411" "0" "" "" "g.69218351G>A" "" "VUS" "" "0000656378" "0" "50" "9" "71855043" "71855043" "subst" "2.8484E-5" "02325" "TJP2_000073" "g.71855043C>T" "" "" "" "TJP2(NM_004817.4):c.2546C>T (p.T849M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69240127C>T" "" "VUS" "" "0000678702" "0" "30" "9" "71842792" "71842792" "subst" "4.87678E-5" "01943" "TJP2_000074" "g.71842792A>G" "" "" "" "TJP2(NM_004817.4):c.1319+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678703" "0" "50" "9" "71849386" "71849386" "subst" "1.63494E-5" "01943" "TJP2_000075" "g.71849386G>A" "" "" "" "TJP2(NM_004817.4):c.1703G>A (p.R568Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678704" "0" "50" "9" "71866197" "71866197" "subst" "4.06177E-5" "01943" "TJP2_000076" "g.71866197G>A" "" "" "" "TJP2(NM_004817.4):c.3238G>A (p.G1080S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678705" "0" "30" "9" "71869275" "71869275" "subst" "4.87575E-5" "01943" "TJP2_000077" "g.71869275G>T" "" "" "" "TJP2(NM_004817.4):c.3558G>T (p.R1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682981" "3" "70" "9" "71836050" "71836050" "del" "0" "00006" "TJP2_000078" "g.71836050delG" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000690578" "0" "30" "9" "71866002" "71866002" "subst" "8.12255E-6" "01943" "TJP2_000079" "g.71866002T>C" "" "" "" "TJP2(NM_004817.4):c.3043T>C (p.Y1015H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699815" "0" "50" "9" "0" "0" "" "0" "00006" "PTCH1_000000" "g.?" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000712160" "0" "50" "9" "71845047" "71845047" "subst" "0" "03611" "TJP2_000080" "g.71845047C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.69230131C>T" "" "VUS" "ACMG" "0000722547" "0" "50" "9" "71836128" "71836128" "subst" "0" "02325" "TJP2_000081" "g.71836128G>A" "" "" "" "TJP2(NM_004817.4):c.668G>A (p.R223Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722548" "0" "50" "9" "71836271" "71836271" "subst" "0" "02325" "TJP2_000082" "g.71836271C>T" "" "" "" "TJP2(NM_004817.4):c.811C>T (p.R271C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722549" "0" "30" "9" "71836378" "71836378" "subst" "0.000378396" "01943" "TJP2_000047" "g.71836378C>T" "" "" "" "TJP2(NM_004817.4):c.918C>T (p.I306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722550" "0" "30" "9" "71849459" "71849459" "subst" "3.87854E-5" "02325" "TJP2_000083" "g.71849459C>T" "" "" "" "TJP2(NM_004817.4):c.1776C>T (p.A592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722551" "0" "30" "9" "71851040" "71851040" "subst" "0.00101946" "01943" "TJP2_000055" "g.71851040C>G" "" "" "" "TJP2(NM_004817.4):c.1877C>G (p.T626S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722552" "0" "30" "9" "71864296" "71864296" "subst" "0" "01943" "TJP2_000084" "g.71864296A>T" "" "" "" "TJP2(NM_004817.4):c.2886A>T (p.I962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722553" "0" "30" "9" "71867731" "71867731" "subst" "8.52979E-5" "01943" "TJP2_000085" "g.71867731A>G" "" "" "" "TJP2(NM_004817.4):c.3322A>G (p.I1108V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722554" "0" "30" "9" "71869246" "71869246" "subst" "1.21841E-5" "01943" "TJP2_000086" "g.71869246G>A" "" "" "" "TJP2(NM_004817.4):c.3529G>A (p.G1177S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804176" "0" "30" "9" "71833218" "71833218" "subst" "4.06065E-6" "01943" "TJP2_000087" "g.71833218T>C" "" "" "" "TJP2(NM_004817.4):c.285T>C (p.D95=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804177" "0" "30" "9" "71842735" "71842735" "subst" "8.12473E-6" "01943" "TJP2_000088" "g.71842735A>G" "" "" "" "TJP2(NM_004817.4):c.1265A>G (p.Q422R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804178" "0" "90" "9" "71867729" "71867729" "subst" "2.4371E-5" "01943" "TJP2_000089" "g.71867729A>C" "" "" "" "TJP2(NM_004817.4):c.3322-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000813012" "3" "70" "9" "71853703" "71853703" "subst" "0" "00000" "TJP2_000091" "g.71853703C>T" "" "{PMID:Ehrenberg 2019:31814694}" "" "TJP2 (NM_004817; OMIM: 607709): c.2353C>T; p.Glu785* (hom) (cholestatic liver disease and HL), ?/(RP)" "error in annotation, amino acid 785 is Gln and not Glu, homozygous" "Germline" "yes" "" "0" "" "" "g.69238787C>T" "" "likely pathogenic" "" "0000813594" "21" "50" "9" "71845067" "71845067" "subst" "0" "03974" "TJP2_000090" "g.71845067T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.69230151T>G" "" "VUS" "" "0000852301" "0" "30" "9" "71854864" "71854864" "subst" "0.00263162" "02326" "TJP2_000093" "g.71854864A>G" "" "" "" "TJP2(NM_004817.4):c.2367A>G (p.A789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861732" "0" "30" "9" "71827458" "71827458" "subst" "0.001243" "01943" "TJP2_000039" "g.71827458A>T" "" "" "" "TJP2(NM_004817.4):c.61-6A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861733" "0" "50" "9" "71836347" "71836347" "subst" "0.000290493" "01943" "TJP2_000003" "g.71836347G>A" "" "" "" "TJP2(NM_004817.4):c.887G>A (p.S296N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861734" "0" "30" "9" "71844152" "71844152" "subst" "0.000150246" "01943" "TJP2_000092" "g.71844152T>C" "" "" "" "TJP2(NM_004817.4):c.1506T>C (p.D502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874684" "3" "70" "9" "71840267" "71840267" "subst" "0" "00000" "TJP2_000004" "g.71840267C>T" "frequency in 1500 in-house samples: 0" "{PMID:Alfares 2018:30202406}" "" "TJP2, NM_001170416.1, c.1093C>T, p.Arg365*" "different transcript, NM_001170416.1, c.1093C>T; homozygous" "Unknown" "?" "" "0" "" "" "g.69225351C>T" "" "likely pathogenic" "ACMG" "0000944350" "0" "70" "9" "71854925" "71854925" "subst" "0" "00006" "TJP2_000095" "g.71854925G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.69240009G>A" "" "likely pathogenic (dominant)" "" "0000944397" "0" "90" "9" "71853673" "71853673" "subst" "8.13398E-6" "00006" "TJP2_000094" "g.71853673C>T" "" "{PMID:Boucher 2020:33229591}" "" "NM_001170416.1:c.2416C>T" "" "Germline" "" "" "0" "" "" "g.69238757C>T" "" "VUS" "" "0000997934" "0" "50" "9" "71833267" "71833267" "subst" "0.000239676" "01804" "TJP2_000072" "g.71833267G>A" "" "" "" "TJP2(NM_004817.3):c.334G>A (p.(Ala112Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997935" "0" "50" "9" "71835803" "71835803" "subst" "0" "02325" "TJP2_000096" "g.71835803G>T" "" "" "" "TJP2(NM_004817.4):c.343G>T (p.V115L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014560" "0" "50" "9" "71842717" "71842717" "subst" "0" "02325" "TJP2_000097" "g.71842717C>T" "" "" "" "TJP2(NM_004817.4):c.1247C>T (p.P416L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014561" "0" "50" "9" "71850980" "71850980" "subst" "3.24976E-5" "02325" "TJP2_000098" "g.71850980C>T" "" "" "" "TJP2(NM_004817.4):c.1817C>T (p.S606L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029745" "3" "90" "9" "71851048" "71851048" "del" "0" "03676" "TJP2_000101" "g.71851048del" "" "" "" "c.1978del (Glu660Argfs*6)" "" "Germline" "yes" "" "0" "" "" "g.69236132del" "" "likely pathogenic (recessive)" "ACMG" "0001029746" "3" "90" "9" "71840219" "71840219" "subst" "0" "03676" "TJP2_000099" "g.71840219G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.69225303G>C" "" "likely pathogenic (recessive)" "ACMG" "0001029747" "3" "90" "9" "71845042" "71845053" "del" "0" "03676" "TJP2_000100" "g.71845042_71845053del" "" "" "" "c.1658_1669del (Gly553_Leu556del)" "" "Germline" "yes" "" "0" "" "" "g.69230126_69230137del" "" "VUS" "ACMG" "0001029748" "3" "90" "9" "71855043" "71855043" "del" "0" "03676" "TJP2_000103" "g.71855043del" "" "" "" "c.2639del (Thr880Serfs*12)" "" "Germline" "yes" "" "0" "" "" "g.69240127del" "" "likely pathogenic (recessive)" "ACMG" "0001029749" "3" "90" "9" "71854860" "71854860" "subst" "0" "03676" "TJP2_000102" "g.71854860A>G" "" "" "" "c.2456A>G (His819Arg)" "" "Germline" "yes" "" "0" "" "" "g.69239944A>G" "" "VUS" "ACMG" "0001037567" "0" "50" "9" "71789291" "71789291" "subst" "0" "01804" "TJP2_000104" "g.71789291G>T" "" "" "" "TJP2(NM_004817.4):c.3G>T (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TJP2 ## Count = 117 "{{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}}" "0000089793" "00024108" "90" "-84307" "0" "1211" "-1" "c.(?_-84307)_(12110+1_1211-1)dup" "r.?" "p.?" "_1_7i" "0000090007" "00024108" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Glu319Lys)" "" "0000090008" "00024108" "50" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Ser327Asn)" "" "0000091247" "00024108" "90" "109106" "0" "109107" "0" "c.*105533_*105534ins-83485_*105533inv" "r.?" "p.?" "_1_23_" "0000130194" "00024108" "70" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334*)" "" "0000130241" "00024108" "70" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334*)" "" "0000188774" "00024108" "70" "2880" "0" "2880" "0" "c.2880G>A" "r.spl?" "p.(Glu889_Ser961del)" "19" "0000311857" "00024108" "10" "1446" "0" "1446" "0" "c.1446C>A" "r.(?)" "p.(Asp482Glu)" "" "0000314522" "00024108" "90" "2509" "0" "2509" "0" "c.2509C>T" "r.(?)" "p.(Arg837Ter)" "" "0000316628" "00024108" "70" "1000" "0" "1000" "0" "c.1000del" "r.(?)" "p.(Arg334GlufsTer16)" "" "0000316629" "00024108" "30" "1005" "0" "1005" "0" "c.1005G>A" "r.(?)" "p.(Thr335=)" "" "0000316630" "00024108" "10" "1091" "0" "1091" "0" "c.1091C>T" "r.(?)" "p.(Thr364Met)" "" "0000316631" "00024108" "30" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Thr62Met)" "" "0000316632" "00024108" "50" "2027" "0" "2027" "0" "c.2027G>C" "r.(?)" "p.(Arg676Thr)" "" "0000316633" "00024108" "30" "2859" "0" "2859" "0" "c.2859G>T" "r.(?)" "p.(Ser953=)" "" "0000316634" "00024108" "30" "2992" "-8" "2992" "-8" "c.2992-8C>T" "r.(=)" "p.(=)" "" "0000316635" "00024108" "30" "3235" "0" "3235" "0" "c.3235C>T" "r.(?)" "p.(Leu1079=)" "" "0000316636" "00024108" "50" "3251" "0" "3251" "0" "c.3251T>C" "r.(?)" "p.(Ile1084Thr)" "" "0000316637" "00024108" "30" "3393" "0" "3393" "0" "c.3393G>A" "r.(?)" "p.(Thr1131=)" "" "0000316638" "00024108" "30" "3483" "0" "3483" "0" "c.3483C>A" "r.(?)" "p.(Ala1161=)" "" "0000316639" "00024108" "10" "3495" "0" "3495" "0" "c.3495G>A" "r.(?)" "p.(Glu1165=)" "" "0000316640" "00024108" "50" "568" "0" "568" "0" "c.568G>T" "r.(?)" "p.(Asp190Tyr)" "" "0000342577" "00024108" "50" "899" "0" "899" "0" "c.899G>A" "r.(?)" "p.(Arg300Lys)" "" "0000344996" "00024108" "90" "2524" "0" "2524" "0" "c.2524C>T" "r.(?)" "p.(Gln842Ter)" "" "0000346552" "00024108" "30" "3251" "0" "3251" "0" "c.3251T>C" "r.(?)" "p.(Ile1084Thr)" "" "0000538414" "00024108" "30" "-74447" "0" "-74447" "0" "c.-74447C>T" "r.(?)" "p.(=)" "" "0000538415" "00024108" "30" "61" "-7293" "61" "-7293" "c.61-7293C>G" "r.(=)" "p.(=)" "" "0000538416" "00024108" "30" "239" "9" "239" "9" "c.239+9C>T" "r.(=)" "p.(=)" "" "0000538417" "00024108" "10" "239" "19" "239" "19" "c.239+19T>C" "r.(=)" "p.(=)" "" "0000538418" "00024108" "30" "395" "0" "395" "0" "c.395C>G" "r.(?)" "p.(Pro132Arg)" "" "0000538419" "00024108" "50" "853" "0" "853" "0" "c.853C>T" "r.(?)" "p.(Arg285Cys)" "" "0000538420" "00024108" "30" "1255" "0" "1255" "0" "c.1255A>G" "r.(?)" "p.(Arg419Gly)" "" "0000538421" "00024108" "30" "1382" "0" "1382" "0" "c.1382C>A" "r.(?)" "p.(Ser461Tyr)" "" "0000538422" "00024108" "30" "1557" "0" "1557" "0" "c.1557C>T" "r.(?)" "p.(Asp519=)" "" "0000538423" "00024108" "30" "2040" "0" "2040" "0" "c.2040G>A" "r.(?)" "p.(Gly680=)" "" "0000538424" "00024108" "30" "2751" "0" "2751" "0" "c.2751C>T" "r.(?)" "p.(Arg917=)" "" "0000538425" "00024108" "30" "2992" "-8" "2992" "-8" "c.2992-8C>T" "r.(=)" "p.(=)" "" "0000538426" "00024108" "50" "3067" "0" "3067" "0" "c.3067G>T" "r.(?)" "p.(Ala1023Ser)" "" "0000538427" "00024108" "50" "3068" "0" "3068" "0" "c.3068C>T" "r.(?)" "p.(Ala1023Val)" "" "0000538428" "00024108" "30" "3190" "0" "3190" "0" "c.3190G>T" "r.(?)" "p.(Val1064Leu)" "" "0000612159" "00024108" "30" "948" "0" "948" "0" "c.948C>T" "r.(?)" "p.(Asn316=)" "" "0000622286" "00024108" "30" "7" "0" "7" "0" "c.7G>C" "r.(?)" "p.(Val3Leu)" "" "0000622287" "00024108" "50" "205" "0" "205" "0" "c.205G>A" "r.(?)" "p.(Val69Met)" "" "0000641001" "00024108" "55" "61" "-6" "61" "-6" "c.61-6A>T" "r.spl?" "p.(=)" "3i" "0000641002" "00024108" "99" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Val48Ala)" "4" "0000641003" "00024108" "55" "322" "0" "322" "0" "c.322A>T" "r.(?)" "p.(Ser108Cys)" "6" "0000641004" "00024108" "99" "766" "0" "769" "0" "c.766_769del" "r.(?)" "p.(Ser256Glyfs*31)" "6" "0000641005" "00024108" "99" "782" "0" "782" "0" "c.782del" "r.(?)" "p.(Ser261Thrfs*27)" "6" "0000641006" "00024108" "99" "817" "0" "817" "0" "c.817del" "r.(?)" "p.(Ser273Alafs*15)" "6" "0000641007" "00024108" "99" "885" "0" "885" "0" "c.885del" "r.(?)" "p.(Glu295Aspfs*12)" "7" "0000641008" "00024108" "55" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Arg302Trp)" "7" "0000641009" "00024108" "33" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(=)" "7" "0000641010" "00024108" "77" "1001" "0" "1001" "0" "c.1001del" "r.(?)" "p.(Val334Glufs*7)" "8" "0000641011" "00024108" "55" "1035" "0" "1035" "0" "c.1035C>A" "r.(?)" "p.(His345Gln)" "8" "0000641012" "00024108" "55" "1213" "0" "1215" "0" "c.1213_1215del" "r.(?)" "p.(Tyr405del)" "9" "0000641013" "00024108" "55" "1258" "0" "1258" "0" "c.1258C>T" "r.(?)" "p.(Arg420Cys)" "10" "0000641014" "00024108" "99" "1361" "0" "1361" "0" "c.1361del" "r.(?)" "p.(Arg455Aspfs*36)" "10" "0000641015" "00024108" "55" "1444" "0" "1444" "0" "c.1444del" "r.(?)" "p.(Ile482Tyrfs*9)" "11" "0000641016" "00024108" "33" "1521" "-7" "1521" "-7" "c.1521-7A>C" "r.spl?" "p.(=)" "11i" "0000641017" "00024108" "33" "1877" "0" "1877" "0" "c.1877C>G" "r.(?)" "p.(Thr626Ser)" "14" "0000641018" "00024108" "99" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Arg632*)" "14" "0000641019" "00024108" "99" "1992" "-2" "1992" "-2" "c.1992-2A>G" "r.spl?" "p.?" "14i" "0000641020" "00024108" "55" "2129" "0" "2129" "0" "c.2129T>C" "r.(?)" "p.(Val710Ala)" "16" "0000641021" "00024108" "99" "2438" "0" "2438" "0" "c.2438dup" "r.(?)" "p.(Arg814Serfs*5)" "18" "0000641022" "00024108" "99" "2668" "-1" "2668" "-1" "c.2668-1G>T" "r.spl?" "p.?" "19i" "0000641023" "00024108" "55" "2858" "0" "2858" "0" "c.2858C>T" "r.(?)" "p.(Ser953Leu)" "21" "0000641024" "00024108" "33" "2859" "0" "2859" "0" "c.2859G>T" "r.(?)" "p.(=)" "21" "0000641025" "00024108" "33" "2865" "0" "2865" "0" "c.2865G>A" "r.(?)" "p.(=)" "21" "0000641026" "00024108" "55" "2880" "4" "2880" "4" "c.2880+4A>G" "r.spl?" "p.?" "21i" "0000641027" "00024108" "55" "2880" "19" "2880" "19" "c.2880+19C>T" "r.spl?" "p.(=)" "21i" "0000641028" "00024108" "33" "2880" "72" "2880" "72" "c.2880+72G>A" "r.spl?" "p.(=)" "21i" "0000641029" "00024108" "33" "2970" "0" "2970" "0" "c.2970A>G" "r.(?)" "p.(=)" "22" "0000641030" "00024108" "55" "2987" "0" "2987" "0" "c.2987C>T" "r.(?)" "p.(Pro996Leu)" "22" "0000641031" "00024108" "33" "3063" "0" "3063" "0" "c.3063C>T" "r.(?)" "p.(=)" "22" "0000641032" "00024108" "55" "3500" "0" "3500" "0" "c.3500G>A" "r.(?)" "p.(Arg1167His)" "22" "0000641033" "00024108" "55" "3557" "0" "3557" "0" "c.3557G>A" "r.(?)" "p.(Arg1186Gln)" "22" "0000641034" "00024108" "99" "3562" "0" "3562" "0" "c.3562A>G" "r.(?)" "p.(Thr1188Ala)" "22" "0000652738" "00024108" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Ala112Thr)" "" "0000656378" "00024108" "50" "2546" "0" "2546" "0" "c.2546C>T" "r.(?)" "p.(Thr849Met)" "" "0000678702" "00024108" "30" "1319" "3" "1319" "3" "c.1319+3A>G" "r.spl?" "p.?" "" "0000678703" "00024108" "50" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568Gln)" "" "0000678704" "00024108" "50" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Gly1080Ser)" "" "0000678705" "00024108" "30" "3558" "0" "3558" "0" "c.3558G>T" "r.(?)" "p.(Arg1186=)" "" "0000682981" "00024108" "70" "590" "0" "590" "0" "c.590del" "r.(?)" "p.(Arg197Leufs*114)" "" "0000690578" "00024108" "30" "3043" "0" "3043" "0" "c.3043T>C" "r.(?)" "p.(Tyr1015His)" "" "0000699815" "00024108" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Pro826Gln)" "" "0000712160" "00024108" "50" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.Arg555Trp" "" "0000722547" "00024108" "50" "668" "0" "668" "0" "c.668G>A" "r.(?)" "p.(Arg223Gln)" "" "0000722548" "00024108" "50" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Arg271Cys)" "" "0000722549" "00024108" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Ile306=)" "" "0000722550" "00024108" "30" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(Ala592=)" "" "0000722551" "00024108" "30" "1877" "0" "1877" "0" "c.1877C>G" "r.(?)" "p.(Thr626Ser)" "" "0000722552" "00024108" "30" "2886" "0" "2886" "0" "c.2886A>T" "r.(?)" "p.(Ile962=)" "" "0000722553" "00024108" "30" "3322" "0" "3322" "0" "c.3322A>G" "r.(?)" "p.(Ile1108Val)" "" "0000722554" "00024108" "30" "3529" "0" "3529" "0" "c.3529G>A" "r.(?)" "p.(Gly1177Ser)" "" "0000804176" "00024108" "30" "285" "0" "285" "0" "c.285T>C" "r.(?)" "p.(Asp95=)" "" "0000804177" "00024108" "30" "1265" "0" "1265" "0" "c.1265A>G" "r.(?)" "p.(Gln422Arg)" "" "0000804178" "00024108" "90" "3322" "-2" "3322" "-2" "c.3322-2A>C" "r.spl?" "p.?" "" "0000813012" "00024108" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Gln785*)" "" "0000813594" "00024108" "50" "1590" "0" "1590" "0" "c.1590T>G" "r.(1590u>g)" "p.(Asp530Glu)" "" "0000852301" "00024108" "30" "2367" "0" "2367" "0" "c.2367A>G" "r.(?)" "p.(Ala789=)" "" "0000861732" "00024108" "30" "61" "-6" "61" "-6" "c.61-6A>T" "r.(=)" "p.(=)" "" "0000861733" "00024108" "50" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Ser296Asn)" "" "0000861734" "00024108" "30" "1506" "0" "1506" "0" "c.1506T>C" "r.(?)" "p.(Asp502=)" "" "0000874684" "00024108" "70" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334*)" "" "0000944350" "00024108" "70" "2428" "0" "2428" "0" "c.2428G>A" "r.(?)" "p.(Val810Met)" "" "0000944397" "00024108" "90" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(Arg755Trp)" "" "0000997934" "00024108" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Ala112Thr)" "" "0000997935" "00024108" "50" "343" "0" "343" "0" "c.343G>T" "r.(?)" "p.(Val115Leu)" "" "0001014560" "00024108" "50" "1247" "0" "1247" "0" "c.1247C>T" "r.(?)" "p.(Pro416Leu)" "" "0001014561" "00024108" "50" "1817" "0" "1817" "0" "c.1817C>T" "r.(?)" "p.(Ser606Leu)" "" "0001029745" "00024108" "90" "1885" "0" "1885" "0" "c.1885del" "r.(?)" "p.(Glu629ArgfsTer6)" "" "0001029746" "00024108" "90" "953" "-1" "953" "-1" "c.953-1G>C" "r..spl" "p.?" "" "0001029747" "00024108" "90" "1565" "0" "1576" "0" "c.1565_1576del" "r.(?)" "p.(Gly522_Leu525del)" "" "0001029748" "00024108" "90" "2546" "0" "2546" "0" "c.2546del" "r.(?)" "p.(Thr849SerfsTer12)" "" "0001029749" "00024108" "90" "2363" "0" "2363" "0" "c.2363A>G" "r.(?)" "p.(His788Arg)" "" "0001037567" "00024108" "50" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000058995" "0000089793" "0000059180" "0000090007" "0000059181" "0000090008" "0000060250" "0000091247" "0000081108" "0000130194" "0000081155" "0000130241" "0000117761" "0000188774" "0000285259" "0000641001" "0000285260" "0000641002" "0000285261" "0000641003" "0000285262" "0000641004" "0000285263" "0000641005" "0000285264" "0000641006" "0000285265" "0000641007" "0000285266" "0000641008" "0000285267" "0000641009" "0000285268" "0000641010" "0000285269" "0000641011" "0000285270" "0000641012" "0000285271" "0000641013" "0000285272" "0000641014" "0000285273" "0000641015" "0000285274" "0000641016" "0000285275" "0000641017" "0000285276" "0000641018" "0000285277" "0000641019" "0000285278" "0000641020" "0000285279" "0000641021" "0000285280" "0000641022" "0000285281" "0000641023" "0000285282" "0000641024" "0000285283" "0000641025" "0000285284" "0000641026" "0000285285" "0000641027" "0000285286" "0000641028" "0000285287" "0000641029" "0000285288" "0000641030" "0000285289" "0000641031" "0000285290" "0000641032" "0000285291" "0000641033" "0000285292" "0000641034" "0000296049" "0000652738" "0000308580" "0000682981" "0000317291" "0000699815" "0000328229" "0000712160" "0000385855" "0000813012" "0000386191" "0000813594" "0000416556" "0000874684" "0000442991" "0000944350" "0000443038" "0000944397" "0000465958" "0001029745" "0000465959" "0001029746" "0000465960" "0001029747" "0000465961" "0001029748" "0000465962" "0001029749"