### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJC5) # 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}}" "DNAJC5" "DnaJ (Hsp40) homolog, subfamily C, member 5" "20" "q13.33" "unknown" "NG_029805.2" "UD_131408751879" "" "https://www.LOVD.nl/DNAJC5" "Orphanmet " "1" "16235" "80331" "611203" "1" "1" "1" "1" "Alias CLN4.\r\nAn NCL gene variant database.\r\nEstablishment of this database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/DNAJC5_codingDNA.html" "1" "" "An NCL gene variant database\r\n
\r\n
" "-1" "" "-1" "00001" "2011-08-17 00:00:00" "00006" "2019-08-22 11:57:16" "00000" "2025-05-05 21:14:00" ## 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}}" "00006554" "DNAJC5" "DnaJ (Hsp40) homolog, subfamily C, member 5" "001" "NM_025219.2" "" "NP_079495.1" "" "" "" "-233" "5060" "597" "62526455" "62567384" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04448" "CLN4B" "lipofuscinosis, ceroid, neuronal, type 4, Parry type (CLN-4B)" "AD" "162350" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05258" "CLN" "lipofuscinosis, ceroid, neuronal (CLN)" "" "" "" "" "" "00006" "2017-04-03 15:00:30" "00006" "2017-04-04 08:43:07" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNAJC5" "04448" "DNAJC5" "05258" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00087083" "" "" "" "1" "" "00011" "{PMID:Nijssen 2002:12112195}, {PMID:Nijssen 2009:19699676}, {PMID:Nijssen 2003:14565761}" "" "" "no" "Netherlands" "" "0" "" "" "" "21820099-FamN1" "00087084" "" "" "" "1" "" "00011" "{PMID:Josephson 2001:11489285}" "" "" "no" "United States" "" "0" "" "" "English" "21820099-FamUCL563" "00087085" "" "" "" "1" "" "00011" "{PMID:Noskova 2011:21820099}" "" "M" "no" "United States" "" "0" "" "" "French-Canadian" "21820099-FamUCL328" "00087086" "" "" "" "9" "" "00011" "{PMID:Noskova 2011:21820099}" "4-generation family, 9 affecteds (6F, 3M)" "F" "no" "Czech Republic" "" "0" "" "" "" "21820099-FamP1" "00087087" "" "" "" "1" "" "00011" "{PMID:Noskova 2011:21820099}" "" "M" "no" "United States" "" "0" "" "" "" "21820099-FamUCL519" "00104700" "" "" "" "22" "" "00006" "{PMID:Boehme 1971:5132971}, {PMID:Velinov 2012:22235333}, {DOI:Velinov 2012:10.1371/journal.pone.0029729}" "7-generation family, 22 affecteds (13F, 9M)" "F;M" "no" "United States" "" "0" "" "" "" "22235333-FamParry" "00104701" "" "" "" "1" "" "00006" "{PMID:Velinov 2012:22235333}, {DOI:Velinov 2012:10.1371/journal.pone.0029729}" "" "" "" "United States" "" "0" "" "" "" "22235333_FamBD319" "00263090" "" "" "" "22" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "7-generation family, family, 22 affected, PatIV2" "" "" "United States" "39y" "0" "" "" "United Kingdom" "Fam1PatIV2" "00263091" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "41y" "0" "" "" "United Kingdom" "Fam1PatIV4" "00263092" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "53y" "0" "" "" "United Kingdom" "Fam1PatIV8" "00263093" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "44y" "0" "" "" "United Kingdom" "Fam1PatIV10" "00263094" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "48y" "0" "" "" "United Kingdom" "Fam1PatIV11" "00263095" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "42y" "0" "" "" "United Kingdom" "Fam1PatIV12" "00263096" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "" "0" "" "" "United Kingdom" "Fam1PatV2" "00263097" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "47y" "0" "" "" "United Kingdom" "Fam1PatV3" "00263098" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "46y" "0" "" "" "United Kingdom" "Fam1PatV8" "00263099" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "40y" "0" "" "" "United Kingdom" "Fam1PatV12" "00263100" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "47y" "0" "" "" "United Kingdom" "Fam1PatV14" "00263101" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "45y" "0" "" "" "United Kingdom" "Fam1PatV16" "00263102" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" ">48y" "0" "" "" "United Kingdom" "Fam1PatV19" "00263103" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" ">49y" "0" "" "" "United Kingdom" "Fam1PatVI2" "00263104" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" ">33y" "0" "" "" "United Kingdom" "Fam1PatVI5" "00263105" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" ">31y" "0" "" "" "United Kingdom" "Fam1PatVII1" "00263106" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "" "0" "" "" "United Kingdom" "Fam1PatIV18" "00263107" "" "" "00263090" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "" "0" "" "" "United Kingdom" "Fam1PatIV19" "00263108" "" "" "" "13" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "7-generation family, family, 13 affected (7F, 6M), PatIV2" "" "" "United States" "47y" "0" "" "" "United Kingdom" "Fam2PatV7" "00263109" "" "" "00263108" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "" "0" "" "" "United Kingdom" "Fam2PatV9" "00263110" "" "" "00263108" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" ">29y" "0" "" "" "United Kingdom" "Fam2PatVI7" "00263111" "" "" "" "1" "" "00006" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "United States" "58y" "0" "" "" "" "Fam3Pat" "00263112" "" "" "" "1" "" "00006" "{PMID:Benitez 2011:22073189}" "7-generation family, 10 affected" "" "" "United States" "" "0" "" "" "" "Family" "00263113" "" "" "" "4" "" "00006" "{PMID:Jarrett 2018:29506599}" "4-generation family, 4 affected (3F, M)" "F;M" "no" "United States" "" "0" "" "" "" "Family" "00292971" "" "" "" "52" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00087083" "04448" "00087084" "04448" "00087085" "04448" "00087086" "04448" "00087087" "04448" "00104700" "04448" "00104701" "04448" "00263090" "05258" "00263091" "05258" "00263092" "05258" "00263093" "05258" "00263094" "05258" "00263095" "05258" "00263096" "05258" "00263097" "05258" "00263098" "05258" "00263099" "05258" "00263100" "05258" "00263101" "05258" "00263102" "05258" "00263103" "05258" "00263104" "05258" "00263105" "05258" "00263106" "05258" "00263107" "05258" "00263108" "05258" "00263109" "05258" "00263110" "05258" "00263111" "05258" "00263112" "05258" "00263113" "05258" "00292971" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04448, 05258 ## Count = 31 "{{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}}" "0000066683" "04448" "00087083" "00011" "Familial, autosomal dominant" "" "ceroid lipofuscinosis, neuronal, autosomal-dominant; granular osmiophilic deposits, curvilinear, fingerprint condensed" "" "" "" "" "" "" "" "" "" "" "" "0000066684" "04448" "00087084" "00011" "Familial, autosomal dominant" "" "ceroid lipofuscinosis, neuronal, autosomal-dominant" "" "" "" "" "" "" "" "" "" "" "" "0000066685" "04448" "00087085" "00011" "Familial, autosomal dominant" "" "diagnosed as Kufs; granular osmiophilic deposits" "" "" "" "" "" "" "" "" "" "" "" "0000066686" "04448" "00087086" "00011" "Familial, autosomal dominant" "" "see paper; ..., ceroid lipofuscinosis, neuronal, autosomal-dominant; myoclonic epilepsy, generalized tonic-clonic seizures, progressive cognitive deterioration with depression; followed by progressive motor neurological symptoms; granular osmiophilic deposits" "" "" "" "" "" "" "" "" "" "" "" "0000066687" "04448" "00087087" "00011" "Familial, autosomal dominant" "" "diagnosed as Kufs" "" "" "" "" "" "" "" "" "" "" "" "0000082615" "04448" "00104700" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000082616" "04448" "00104701" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000201535" "05258" "00263090" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "32y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201536" "05258" "00263091" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "31y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201537" "05258" "00263092" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "32y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201538" "05258" "00263093" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "30y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201539" "05258" "00263094" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "40y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201540" "05258" "00263095" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "32y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201541" "05258" "00263096" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), no dementia (-HP:0000726)" "32y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201542" "05258" "00263097" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "29y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201543" "05258" "00263098" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "27y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201544" "05258" "00263099" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "28y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201545" "05258" "00263100" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "28y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201546" "05258" "00263101" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "27y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201547" "05258" "00263102" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "26y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201548" "05258" "00263103" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), ataxia (HP:0001251), dementia (HP:0000726)" "28y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201549" "05258" "00263104" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336)" "28y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201550" "05258" "00263105" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), no speech deterioration (-HP:0002167), no ataxia (-HP:0001251), no dementia (-HP:0000726)" "30y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201551" "05258" "00263106" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201552" "05258" "00263107" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201553" "05258" "00263108" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), no ataxia (-HP:0001251), dementia (HP:0000726)" "29y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201554" "05258" "00263109" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), speech deterioration (HP:0002167), no ataxia (-HP:0001251), dementia (HP:0000726)" "28y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201555" "05258" "00263110" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336)" "29y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201556" "05258" "00263111" "00006" "Familial, autosomal dominant" "" "generalized tonic–clonic seizures (HP:0002069), myoclonus (HP:0001336), ataxia (HP:0001251), dementia (HP:0000726)" "43y" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" "0000201557" "05258" "00263112" "00006" "Familial, autosomal dominant" "" "neuronal ceroid lipofuscinosis" "" "" "" "" "" "" "" "" "CLN-4B" "neuronal ceroid lipofuscinosis" "" "0000201558" "05258" "00263113" "00006" "Familial, autosomal dominant" "" "see paper; ..., cognitive impairment, seizures, myoclonus" "" "" "" "" "" "" "" "" "CLN-4B" "Kufs disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000087220" "00087083" "1" "00011" "00006" "2011-08-23 13:46:04" "" "" "SEQ" "DNA" "" "" "0000087221" "00087084" "1" "00011" "00006" "2011-08-23 13:46:04" "" "" "SEQ" "DNA" "" "" "0000087222" "00087085" "1" "00011" "00006" "2011-08-23 13:46:04" "" "" "SEQ" "DNA" "" "" "0000087223" "00087086" "1" "00011" "00006" "2011-08-23 13:46:04" "" "" "SEQ" "DNA" "" "" "0000087224" "00087087" "1" "00011" "00006" "2011-08-23 13:46:05" "" "" "SEQ" "DNA" "" "" "0000105172" "00104700" "1" "00006" "00006" "2017-05-19 17:36:15" "" "" "SEQ" "DNA" "" "" "0000105173" "00104701" "1" "00006" "00006" "2017-05-19 17:46:49" "" "" "SEQ" "DNA" "" "" "0000264196" "00263090" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264197" "00263091" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264198" "00263092" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264199" "00263093" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264200" "00263094" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264201" "00263095" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264202" "00263096" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264203" "00263097" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264204" "00263098" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264205" "00263099" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264206" "00263100" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264207" "00263101" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264208" "00263102" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264209" "00263103" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264210" "00263104" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264211" "00263105" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264212" "00263106" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264213" "00263107" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264214" "00263108" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264215" "00263109" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264216" "00263110" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264217" "00263111" "1" "00006" "00006" "2019-08-22 12:04:20" "" "" "SEQ" "DNA" "" "" "0000264218" "00263112" "1" "00006" "00006" "2019-08-22 12:50:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000264219" "00263113" "1" "00006" "00006" "2019-08-22 12:57:36" "" "" "SEQ" "DNA" "" "" "0000294139" "00292971" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000087220" "DNAJC5" "0000087221" "DNAJC5" "0000087222" "DNAJC5" "0000087223" "DNAJC5" "0000087224" "DNAJC5" "0000105172" "DNAJC5" "0000105172" "PRPF6" "0000105173" "DNAJC5" "0000264196" "DNAJC5" "0000264197" "DNAJC5" "0000264198" "DNAJC5" "0000264199" "DNAJC5" "0000264200" "DNAJC5" "0000264201" "DNAJC5" "0000264202" "DNAJC5" "0000264203" "DNAJC5" "0000264204" "DNAJC5" "0000264205" "DNAJC5" "0000264206" "DNAJC5" "0000264207" "DNAJC5" "0000264208" "DNAJC5" "0000264209" "DNAJC5" "0000264210" "DNAJC5" "0000264211" "DNAJC5" "0000264212" "DNAJC5" "0000264213" "DNAJC5" "0000264214" "DNAJC5" "0000264215" "DNAJC5" "0000264216" "DNAJC5" "0000264217" "DNAJC5" "0000264218" "DNAJC5" "0000264219" "DNAJC5" ## 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 = 48 "{{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}}" "0000139998" "1" "90" "20" "62562226" "62562226" "subst" "0" "00011" "DNAJC5_000001" "g.62562226T>G" "" "{PMID:Noskova 2011:21820099}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63930873T>G" "" "pathogenic" "" "0000139999" "1" "90" "20" "62562226" "62562226" "subst" "0" "00011" "DNAJC5_000001" "g.62562226T>G" "" "{PMID:Noskova 2011:21820099}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63930873T>G" "" "pathogenic" "" "0000140000" "1" "90" "20" "62562226" "62562226" "subst" "0" "00011" "DNAJC5_000001" "g.62562226T>G" "" "{PMID:Noskova 2011:21820099}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63930873T>G" "" "pathogenic" "" "0000140001" "1" "90" "20" "62562228" "62562230" "del" "0" "00011" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Noskova 2011:21820099}" "" "346_348delCTC" "" "Germline" "yes" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic" "" "0000140002" "1" "90" "20" "62562228" "62562230" "del" "0" "00011" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Noskova 2011:21820099}" "" "346_348delCTC" "" "Germline" "yes" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic" "" "0000170447" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Velinov 2012:22235333}, {DOI:Velinov 2012:10.1371/journal.pone.0029729}" "" "346_348delCTC" "" "Germline" "yes" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic" "" "0000170448" "1" "90" "20" "62562226" "62562226" "subst" "0" "00006" "DNAJC5_000001" "g.62562226T>G" "" "{PMID:Velinov 2012:22235333}, {DOI:Velinov 2012:10.1371/journal.pone.0029729}" "" "" "not in 2,100 controls" "Germline" "" "" "0" "" "" "g.63930873T>G" "" "pathogenic" "" "0000251643" "0" "10" "20" "62560916" "62560916" "subst" "4.3399E-6" "02326" "DNAJC5_000004" "g.62560916A>T" "" "" "" "DNAJC5(NM_025219.3):c.321+38A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63929563A>T" "" "benign" "" "0000270828" "0" "10" "20" "62562397" "62562397" "subst" "0.0334891" "02326" "DNAJC5_000006" "g.62562397C>T" "" "" "" "DNAJC5(NM_025219.3):c.493+22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63931044C>T" "" "benign" "" "0000275392" "0" "10" "20" "62560898" "62560898" "subst" "0.028219" "01943" "DNAJC5_000003" "g.62560898C>T" "" "" "" "DNAJC5(NM_025219.2):c.321+20C>T, DNAJC5(NM_025219.3):c.321+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63929545C>T" "" "benign" "" "0000275393" "0" "10" "20" "62562194" "62562194" "subst" "0.0660448" "01943" "DNAJC5_000005" "g.62562194C>T" "" "" "" "DNAJC5(NM_025219.2):c.322-10C>T, DNAJC5(NM_025219.3):c.322-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63930841C>T" "" "benign" "" "0000570369" "0" "30" "20" "62559815" "62559815" "subst" "0.000996275" "01943" "DNAJC5_000007" "g.62559815C>T" "" "" "" "DNAJC5(NM_025219.2):c.107+10C>T, DNAJC5(NM_025219.3):c.107+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63928462C>T" "" "likely benign" "" "0000570370" "0" "30" "20" "62559815" "62559815" "subst" "0.000996275" "02326" "DNAJC5_000007" "g.62559815C>T" "" "" "" "DNAJC5(NM_025219.2):c.107+10C>T, DNAJC5(NM_025219.3):c.107+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63928462C>T" "" "likely benign" "" "0000570371" "0" "30" "20" "62560746" "62560746" "subst" "2.84299E-5" "02326" "DNAJC5_000008" "g.62560746G>A" "" "" "" "DNAJC5(NM_025219.3):c.189G>A (p.A63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63929393G>A" "" "likely benign" "" "0000570372" "0" "30" "20" "62562385" "62562385" "subst" "8.17247E-6" "01943" "DNAJC5_000009" "g.62562385C>T" "" "" "" "DNAJC5(NM_025219.2):c.493+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63931032C>T" "" "likely benign" "" "0000593794" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593795" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593796" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593797" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593798" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593799" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593800" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593801" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593802" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593803" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593804" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593805" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593806" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593807" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593808" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593809" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593810" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593811" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593812" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593813" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593814" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000593815" "1" "90" "20" "62562226" "62562226" "subst" "0" "00006" "DNAJC5_000001" "g.62562226T>G" "" "{PMID:Cadieux-Dion 2013:22978711}" "" "" "" "Germline" "" "" "0" "" "" "g.63930873T>G" "" "pathogenic (dominant)" "" "0000593816" "1" "90" "20" "62562226" "62562226" "subst" "0" "00006" "DNAJC5_000001" "g.62562226T>G" "" "{PMID:Benitez 2011:22073189}" "" "" "" "Germline" "yes" "" "0" "" "" "g.63930873T>G" "" "pathogenic (dominant)" "" "0000593817" "1" "90" "20" "62562228" "62562230" "del" "0" "00006" "DNAJC5_000002" "g.62562228_62562230del" "" "{PMID:Jarrett 2018:29506599}" "" "346_348delCTC" "" "Germline" "yes" "" "0" "" "" "g.63930875_63930877del" "" "pathogenic (dominant)" "" "0000650828" "1" "30" "20" "62567221" "62567221" "subst" "0" "03575" "DNAJC5_000010" "g.62567221C>T" "52/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "52 heterozygous, no homozygous; {DB:CLININrs41278224}" "Germline" "" "rs41278224" "0" "" "" "g.63935868C>T" "" "likely benign" "" "0000658808" "0" "30" "20" "62560839" "62560839" "subst" "0.000312924" "01943" "DNAJC5_000011" "g.62560839C>T" "" "" "" "DNAJC5(NM_025219.2):c.282C>T (p.N94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63929486C>T" "" "likely benign" "" "0000681695" "0" "30" "20" "62560710" "62560710" "subst" "6.50079E-5" "02326" "DNAJC5_000013" "g.62560710G>T" "" "" "" "DNAJC5(NM_025219.3):c.153G>T (p.P51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727859" "0" "30" "20" "62560689" "62560689" "subst" "0.000654897" "02326" "DNAJC5_000012" "g.62560689C>T" "" "" "" "DNAJC5(NM_025219.3):c.132C>T (p.P44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727860" "0" "30" "20" "62562870" "62562870" "subst" "0" "01943" "DNAJC5_000014" "g.62562870C>T" "" "" "" "DNAJC5(NM_025219.2):c.546C>T (p.T182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927057" "0" "10" "20" "62560898" "62560898" "subst" "0.028219" "02329" "DNAJC5_000003" "g.62560898C>T" "" "" "" "DNAJC5(NM_025219.2):c.321+20C>T, DNAJC5(NM_025219.3):c.321+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000927058" "0" "10" "20" "62562194" "62562194" "subst" "0.0660448" "02329" "DNAJC5_000005" "g.62562194C>T" "" "" "" "DNAJC5(NM_025219.2):c.322-10C>T, DNAJC5(NM_025219.3):c.322-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015881" "0" "30" "20" "62562882" "62562882" "subst" "0" "02326" "DNAJC5_000015" "g.62562882C>T" "" "" "" "DNAJC5(NM_025219.3):c.558C>T (p.A186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043530" "0" "30" "20" "62537791" "62537791" "subst" "0" "01804" "DNAJC5_000016" "g.62537791C>T" "" "" "" "DNAJC5(NM_025219.3):c.-12+11115C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DNAJC5 ## Count = 48 "{{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}}" "0000139998" "00006554" "90" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Leu115Arg)" "4" "0000139999" "00006554" "90" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Leu115Arg)" "4" "0000140000" "00006554" "90" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Leu115Arg)" "4" "0000140001" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000140002" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000170447" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000170448" "00006554" "90" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Leu115Arg)" "4" "0000251643" "00006554" "10" "321" "38" "321" "38" "c.321+38A>T" "r.(=)" "p.(=)" "" "0000270828" "00006554" "10" "493" "22" "493" "22" "c.493+22C>T" "r.(=)" "p.(=)" "" "0000275392" "00006554" "10" "321" "20" "321" "20" "c.321+20C>T" "r.(=)" "p.(=)" "" "0000275393" "00006554" "10" "322" "-10" "322" "-10" "c.322-10C>T" "r.(=)" "p.(=)" "" "0000570369" "00006554" "30" "107" "10" "107" "10" "c.107+10C>T" "r.(=)" "p.(=)" "" "0000570370" "00006554" "30" "107" "10" "107" "10" "c.107+10C>T" "r.(=)" "p.(=)" "" "0000570371" "00006554" "30" "189" "0" "189" "0" "c.189G>A" "r.(?)" "p.(Ala63=)" "" "0000570372" "00006554" "30" "493" "10" "493" "10" "c.493+10C>T" "r.(=)" "p.(=)" "" "0000593794" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593795" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593796" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593797" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593798" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593799" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593800" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593801" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593802" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593803" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593804" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593805" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593806" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593807" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593808" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593809" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593810" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593811" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593812" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593813" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593814" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000593815" "00006554" "90" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Leu115Arg)" "4" "0000593816" "00006554" "90" "344" "0" "344" "0" "c.344T>G" "r.(?)" "p.(Leu115Arg)" "4" "0000593817" "00006554" "90" "346" "0" "348" "0" "c.346_348del" "r.(?)" "p.(Leu116del)" "4" "0000650828" "00006554" "30" "4897" "0" "4897" "0" "c.*4300C>T" "r.(=)" "p.(=)" "" "0000658808" "00006554" "30" "282" "0" "282" "0" "c.282C>T" "r.(?)" "p.(Asn94=)" "" "0000681695" "00006554" "30" "153" "0" "153" "0" "c.153G>T" "r.(?)" "p.(Pro51=)" "" "0000727859" "00006554" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Pro44=)" "" "0000727860" "00006554" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Thr182=)" "" "0000927057" "00006554" "10" "321" "20" "321" "20" "c.321+20C>T" "r.(=)" "p.(=)" "" "0000927058" "00006554" "10" "322" "-10" "322" "-10" "c.322-10C>T" "r.(=)" "p.(=)" "" "0001015881" "00006554" "30" "558" "0" "558" "0" "c.558C>T" "r.(?)" "p.(=)" "" "0001043530" "00006554" "30" "-12" "11115" "-12" "11115" "c.-12+11115C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000087220" "0000139998" "0000087221" "0000139999" "0000087222" "0000140000" "0000087223" "0000140001" "0000087224" "0000140002" "0000105172" "0000170447" "0000105173" "0000170448" "0000264196" "0000593794" "0000264197" "0000593795" "0000264198" "0000593796" "0000264199" "0000593797" "0000264200" "0000593798" "0000264201" "0000593799" "0000264202" "0000593800" "0000264203" "0000593801" "0000264204" "0000593802" "0000264205" "0000593803" "0000264206" "0000593804" "0000264207" "0000593805" "0000264208" "0000593806" "0000264209" "0000593807" "0000264210" "0000593808" "0000264211" "0000593809" "0000264212" "0000593810" "0000264213" "0000593811" "0000264214" "0000593812" "0000264215" "0000593813" "0000264216" "0000593814" "0000264217" "0000593815" "0000264218" "0000593816" "0000264219" "0000593817" "0000294139" "0000650828"