### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EP300) # 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}}" "EP300" "E1A binding protein p300" "22" "q13.2" "unknown" "NG_009817.1" "UD_132118286890" "" "http://www.LOVD.nl/EP300" "" "1" "3373" "2033" "602700" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) 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/EP300_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2007-06-21 00:00:00" "00006" "2023-02-20 16:19:24" "00000" "2025-09-05 15:50:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000166" "EP300" "E1A binding protein p300" "001" "NM_001429.3" "" "NP_001420.2" "" "" "" "-395" "8366" "7245" "41488614" "41576081" "00002" "2012-05-11 13:12:18" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00714" "RSTS1" "Rubinstein-Taybi syndrome, type 1" "AD" "180849" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-11-20 11:36:38" "00758" "RSTS2" "Rubinstein-Taybi syndrome, type 2" "AD" "613684" "" "intellectual disability (77/80), microcephaly (68/82), long eyelashes (56/69), arched eyebrow (54/77)inferior nasal column (56/73), broad toe (56/79), wide thumb (52/79), high palatal arch (38/66), lateral canthus inferior oblique (43/75), extrauterine growth retardation (51/78)" "" "00006" "2014-09-25 23:29:40" "00006" "2025-07-08 15:51:45" "01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05619" "RSTS" "Rubinstein-Taybi syndrome (RSTS)" "" "" "" "" "" "00006" "2019-07-05 14:41:32" "00006" "2021-12-10 21:51:32" "05620" "MKHK" "Menke-Hennekam syndrome" "" "" "" "" "" "00006" "2019-07-05 14:50:13" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "EP300" "00091" "EP300" "00139" "EP300" "00758" "EP300" "05619" ## Individuals ## Do not remove or alter this header ## ## Count = 68 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00050411" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050546" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050627" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00058635" "" "" "" "1" "" "00006" "{PMID:Roelfsema 2005:15706485}" "" "" "" "" "" "0" "" "" "" "" "00058636" "" "" "" "1" "" "00006" "{PMID15706485:Roelfsema 2005}" "" "" "" "" "" "0" "" "" "" "" "00058637" "" "" "" "1" "" "00006" "{PMID15706485:Roelfsema 2005}" "" "" "" "" "" "0" "" "" "" "" "00058638" "" "" "" "1" "" "00006" "{PMID17220215:Bartholdi 2007}" "" "" "" "" "" "0" "" "" "" "" "00058639" "" "" "" "1" "" "00006" "{PMID17299436:Zimmermann 2007}" "" "" "" "" "" "0" "" "" "" "" "00058695" "" "" "" "1" "" "01353" "" "" "M" "" "" "" "0" "" "" "" "" "00058696" "" "" "" "1" "" "01353" "" "" "M" "" "" "" "0" "" "" "" "" "00058697" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058698" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058699" "" "" "" "1" "" "01353" "{PMID19353645:Foley 2009}" "" "" "" "" "" "0" "" "" "" "" "00058700" "" "" "" "1" "" "01353" "{PMID20014264:Bartsch 2010}" "" "" "" "" "" "0" "" "" "" "" "00058701" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058702" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058703" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058704" "" "" "" "1" "" "01353" "D.J.M. Peters, personal communication" "" "" "" "" "" "0" "" "" "" "" "00058751" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058752" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058753" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058754" "" "" "" "1" "" "01353" "" "" "" "" "" "" "0" "" "" "" "" "00058767" "" "" "" "1" "" "01353" "{PMID20717166:Tsai 2011}" "" "" "" "" "" "0" "" "" "" "" "00064625" "" "" "" "1" "" "01593" "" "" "F" "no" "" "" "0" "yes" "" "white" "" "00079120" "" "" "" "1" "" "01593" "" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00079121" "" "" "" "1" "" "01593" "" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00079122" "" "" "" "1" "" "01593" "" "" "?" "no" "Spain" "" "0" "yes" "" "white" "" "00079123" "" "" "" "1" "" "01593" "" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00079124" "" "" "" "1" "" "01593" "" "" "M" "no" "Spain" "" "0" "" "" "white" "" "00079125" "" "" "" "1" "" "01593" "" "" "F" "no" "Spain" "" "0" "" "" "white" "" "00081134" "" "" "" "1" "" "01593" "" "" "F" "no" "Spain" "" "0" "yes" "" "white" "" "00144330" "" "" "" "1" "" "02342" "" "" "F" "?" "" "" "0" "" "" "" "" "00245659" "" "" "" "1" "" "00006" "{PMID:Menke 2018:29460469}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatE1" "00245660" "" "" "" "1" "" "00006" "{PMID:Menke 2018:29460469}" "" "F" "" "Netherlands" "" "0" "" "" "" "PatE2" "00246626" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00287099" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00293134" "" "" "" "175" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295939" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00302953" "" "" "" "1" "" "00006" "{PMID:Fieremans 2016:27159028}" "" "F" "" "" "" "0" "" "" "" "Pat9" "00304906" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06" "00307256" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 60" "00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62" "00314998" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1372" "00314999" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1238" "00315000" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "18–0842" "00315049" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1418" "00327624" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00331427" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "" "" "" "0" "" "" "Arab" "12DG0359" "00332250" "" "" "" "8" "" "00000" "{PMID:Astuti 2018:29320387}" "4-generation family, 8 affected (2F, 6M), unaffected parents" "" "" "France" "" "0" "" "" "" "FamJ" "00374727" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1713" "00381537" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "183910" "00391801" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "208P" "00432237" "" "" "" "1" "" "00006" "{PMID:Bai 2023:36797748}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00435192" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "253551" "00440397" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3301.1" "00458177" "" "" "" "1" "" "00006" "{PMID:Pavinato 2024:39603792}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "Switzerland" "" "0" "" "" "" "Pat1" "00458178" "" "" "" "1" "" "00006" "{PMID:Pavinato 2024:39603792}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Italy" "" "0" "" "" "" "Pat2" "00459408" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00462306" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "051-008-TNK" "00464136" "" "" "" "1" "" "00006" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "patient" "" "" "Russia" "" "0" "" "" "" "" "00464137" "" "" "" "1" "" "00006" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "patient" "" "" "Russia" "" "0" "" "" "" "" "00464138" "" "" "" "1" "" "00006" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "patient" "" "" "Russia" "" "0" "" "" "" "" "00464139" "" "" "" "1" "" "00006" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "patient" "" "" "Russia" "" "0" "" "" "" "" "00464145" "" "" "" "1" "" "00006" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "patient" "" "" "Russia" "" "0" "" "" "" "" "00466033" "" "" "" "1" "" "00006" "{DOI:Wang 2025:10.3389/fgene.2025.1588657}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat1" "00466034" "" "" "" "1" "" "00006" "{DOI:Wang 2025:10.3389/fgene.2025.1588657}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 72 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00050411" "00198" "00050546" "00198" "00050627" "00198" "00058635" "00714" "00058636" "00714" "00058637" "00714" "00058638" "00714" "00058639" "00714" "00058695" "00714" "00058696" "00714" "00058697" "00714" "00058698" "00714" "00058699" "00714" "00058700" "00714" "00058701" "00714" "00058702" "00714" "00058703" "00714" "00058704" "00714" "00058751" "00714" "00058752" "00714" "00058753" "00714" "00058754" "00714" "00058767" "00714" "00064625" "00758" "00079120" "00758" "00079121" "00758" "00079122" "00758" "00079123" "00758" "00079124" "00758" "00079125" "00758" "00081134" "00758" "00144330" "00198" "00245659" "05162" "00245660" "05162" "00246626" "00198" "00287099" "00198" "00293134" "00198" "00295939" "00198" "00302953" "00139" "00304906" "00198" "00307142" "01544" "00307256" "01544" "00307257" "01544" "00314998" "00198" "00314999" "00198" "00315000" "00198" "00315049" "00198" "00327624" "00198" "00331427" "05517" "00332250" "04214" "00374727" "00198" "00381537" "05620" "00391801" "00139" "00391801" "05619" "00391801" "05620" "00432237" "05162" "00435192" "00758" "00440397" "00198" "00458177" "00198" "00458178" "00198" "00459408" "05611" "00462306" "00198" "00464136" "05619" "00464137" "05619" "00464138" "05619" "00464139" "05619" "00464145" "05619" "00466033" "05619" "00466034" "05619" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00138, 00139, 00198, 00714, 00758, 01544, 04214, 05162, 05330, 05378, 05517, 05611, 05619, 05620 ## Count = 63 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037023" "00198" "00050411" "00006" "Isolated (sporadic)" "" "mild intrauterine growth retardation, 3-4 finger syndactyly, microcephaly, proportionate short stature, global developmental delay, specific learning disability, cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037158" "00198" "00050546" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, short stature, clubbing, feeding difficulties in infancy, iga deficiency, microcephaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037239" "00198" "00050627" "00006" "Isolated (sporadic)" "" "severe postnatal growth retardation, microcephaly, growth abnormality, oral cleft, global developmental delay, pseudoepiphyses of the metacarpals, marked delay in bone age" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045226" "00714" "00058635" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045227" "00714" "00058636" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045228" "00714" "00058637" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045229" "00714" "00058638" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045230" "00714" "00058639" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045286" "00714" "00058695" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045287" "00714" "00058696" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045288" "00714" "00058697" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045289" "00714" "00058698" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045290" "00714" "00058699" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045291" "00714" "00058700" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045292" "00714" "00058701" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045293" "00714" "00058702" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045294" "00714" "00058703" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045295" "00714" "00058704" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045342" "00714" "00058751" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045343" "00714" "00058752" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045344" "00714" "00058753" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045345" "00714" "00058754" "01353" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000045358" "00714" "00058767" "01353" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050849" "00758" "00064625" "01593" "Isolated (sporadic)" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058847" "00758" "00079120" "01593" "-" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058849" "00758" "00079121" "01593" "-" "15y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058850" "00758" "00079123" "01593" "Unknown" "08y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058851" "00758" "00079124" "01593" "Unknown" "01y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058852" "00758" "00079125" "01593" "Unknown" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000058853" "00758" "00079122" "01593" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060708" "00758" "00081134" "01593" "-" "09y" "" "" "" "" "09y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000185591" "05162" "00245659" "00006" "Isolated (sporadic)" "17y" "see paper; …; square face, flat face; no sparse hair (-HP:0008070); prominent forehead (HP:0011220); no thick eyebrows (-HP:0000574); no telecanthi, no epicanthi; upslanted palpebral fissures; short palpebral fissures; no ptosis, no blepharophimosis; no long eyelashes; squint; depressed nasal bridge; no depressed nasal ridge; narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; full cheeks; deep philtrum; no everted vermilion upper lip; thin vermilion upper lip; missing teeth; no micrognathia/retrognathia; short set ears; no protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; absent earlobe; no clinodactyly fifth finger; sandal gap; cutaneous partial toe syndactyly; overlapping toes; fibular deviation distal halluces; no broad/narrow halluces" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MKHK-1" "developmental delay" "" "0000185592" "05162" "00245660" "00006" "Isolated (sporadic)" "14y" "see paper; …; square face; no sparse hair (-HP:0008070); no prominent forehead (-HP:0011220); no thick eyebrows (-HP:0000574); epicanthi; upslanted palpebral fissures; short palpebral fissures; blepharophimosis; no long eyelashes; no squint; depressed nasal bridge; no depressed nasal ridge; no narrow nasal bridge; no short nose; no short columella; no alae lower inserted than columella; no anteverted nares; no underdeveloped alae nasi; no full cheeks; no philtrum short (s)/long (l)/deep (d); no everted vermilion upper lip; thin vermilion upper lip; no high palate; missing teeth; micrognathia/retrognathia; no short-set/low-set ears; no protruding ears (upper part); no prominent inferior crus of antihelix; no overfolded helix ears; no absent earlobe; no clinodactyly fifth finger; no sandal gap; no cutaneous partial toe syndactyly; no overlapping toes; no fibular deviation distal halluces; no broad/narrow halluces" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MKHK-1" "developmental delay" "" "0000186482" "00198" "00246626" "01807" "Unknown" "" "Microcephaly (HP:0000252); Iris coloboma (HP:0000612); Motor delay (HP:0001270); Patent ductus arteriosus (HP:0001643)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000220835" "00198" "00287099" "01807" "Unknown" "" "Seizures (HP:0001250); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223415" "00198" "00295939" "01164" "Unknown" "" "Abnormality of movement (HP:0100022); Broad fingertip (HP:0011300); Broad thumb (HP:0011304); Abnormality of central motor function (HP:0011442); Global developmental delay (HP:0001263); Premature birth (HP:0001622); Broad toe (HP:0001837); Abnormal facial shape (HP:0001999); Microcephaly (HP:0000252); Epicanthus (HP:0000286); Tip-toe gait (HP:0030051); Wide nose (HP:0000445); Abnormality of the eyelid (HP:0000492); Misalignment of teeth (HP:0000692); Behavioral abnormality (HP:0000708); Impaired social interactions (HP:0000735); Delayed speech and language development (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230037" "00139" "00302953" "00006" "Isolated (sporadic)" "" "see paper; ..., mild developmental delay, hearing disability, relative microcephaly, dysmorphism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233060" "01544" "00307256" "03753" "Unknown" "" "Unilateral" "" "" "" "00y10m" "HP:0000555" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238750" "00198" "00314998" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Rubinstein-Taybi syndrome" "chromatinopathy" "" "0000238751" "00198" "00314999" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Rubinstein-Taybi syndrome" "chromatinopathy" "" "0000238752" "00198" "00315000" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Rubinstein-Taybi syndrome" "chromatinopathy" "" "0000238801" "00198" "00315049" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "chromatinopathy" "" "0000245869" "00198" "00327624" "01807" "Unknown" "" "Microcephaly (HP:0000252); Autism (HP:0000717); Intellectual disability (HP:0001249); Absent speech (HP:0001344); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249619" "05517" "00331427" "00000" "Familial, autosomal dominant" "" "Congenital microcephaly, Intellectual disability, Short stature, Deeply set eye, Deviated na No" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Brachydactylies (with extraskeletal manifestations)" "skeletal dysplasia" "" "0000250437" "04214" "00332250" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000269937" "00198" "00374727" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000275386" "05620" "00381537" "01164" "Isolated (sporadic)" "04y" "Arachnodactyly, Long toe, Slender toe, Global developmental delay, Seizure, Ataxia, Abnormality of coordination, Hydrocephalus, Abnormality of the pons, Arachnoid cyst, Seizure, Asthma, Joint hypermobility, Muscular hypotonia, Muscular hypotonia of the trunk, Motor delay, Macrocephaly, Chronic constipation, Dental malocclusion, Focal-onset seizure" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000322805" "05162" "00432237" "00006" "Isolated (sporadic)" "04y" "see paper; ..., recurrent respiratory tract infection, developmental delay, language delay, mild motor development delay; slightly arched eyebrows, synophridia, long eyelashes, square tip nose, normal columella, prominent two front teeth, normal tooth number; mild hirsutism, post-axial hexadactylia left foot; enlarged cisterna magna enlarged connected with fourth ventricle, enlarged ventricular system; malacia beside posterior horn oleft lateral ventricle; primary low immunoglobulin G and A, normal level immunoglobulin M" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "developmental delay" "" "0000325397" "00758" "00435192" "01164" "Isolated (sporadic)" "" "Microcephaly, Aggressive behavior, Obsessive-compulsive behavior, Autistic behavior, Low frustration tolerance, Intellectual disability" "" "" "" "17y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330307" "00198" "00440397" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Rubinstein-Taybi syndrome-2 (MIM #613684)" "" "" "0000346614" "00198" "00458177" "00006" "Isolated (sporadic)" "09y" "see paper; ..., prenatal ultrasound normal; born at term, minor facial abnormalities, minor heart defects (corrective surgery); developmental delay, 2y-walk, 5-6y-speech (9y-simple sentences); bilateral mixed hearing loss, attention issues, self-regulation difficulties, normal sleep–wake rhythms; 8y-microcephaly, ECG dilation aortic bulb; intellectual disability; ADHD, motor delay, developmental delay, hearing loss, mild intellectual disability, speech delay, microcephaly, downslanted palpebral fissures, highly arched eyebrows, abnormal earlobe, microretrognathia, dental malposition/malocclusion, tin upper lip vermillion, sall hands, short feet, cardiovascular anomalies, respiratory anomalies, feeding problems, lacrimal duct anomalies, polyhydramnios; round face, broad neck, short neck, deviation of buccal rhyme, high root of nose, choanal atresia;angioma; thin skin; asymmetrical chest; prominent abdomen; clinodactyly; pyelectasia; bronchodysplasia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000346615" "00198" "00458178" "00006" "Isolated (sporadic)" "32y" "see paper; ..., 32y-deceased (colon carcinoid tumor); anxiety, autism spectrum disorder, epilepsy, hearing loss, severe intellectual disability, , speech delay, microcephaly, highly arched eyebrows, epicanthal folds, short stature, cardiovascular anomalies, respiratory anomalies, feeding problems, gastric reflux, lacrimal duct anomalies, strabismus, cancer; upslanting palpebral fissures, deviation nasal septum, submucous cleft of hard palate; clinodactyly; high cholesterol; hypothyroidism; hyperlipidemia; bilateral inguinal hernias" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347484" "05611" "00459408" "03544" "Isolated (sporadic)" "" "HP:0001249, HP:0000750, HP:0001629, HP:0000252, HP:0001508, HP:0000767" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "complex neurodevelopmental disorder" "" "0000349805" "00198" "00462306" "00006" "Isolated (sporadic)" "" "19gw-intrauterine growth restriction, broad halluces, sacral spina bifida, postaxial polydacytly left foot" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiple neonatal malformations" "" "0000350198" "05619" "00464136" "00006" "Unknown" "14.3y" "microcephaly, (dismorfic facial features?), broad thumbs, duplicated halluces, moderate intellectual disability, postnatal growth retardation; cryptorchidism" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "Rubinstein-Taybi syndrome" "" "0000350199" "05619" "00464137" "00006" "Unknown" "8.9y" "microcephaly, convex nasal ridge, highly arched palate, broad thumbs/halluces, mild intellectual disability, postnatal growth retardation; external genital hypoplasia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "Rubinstein-Taybi syndrome" "" "0000350200" "05619" "00464138" "00006" "Unknown" "1.6y" "microcephaly, highly arched eyebrow, broad thumbs/halluces, delayed development, postnatal growth retardation; maternal pre-eclampsia; broad nasal tip, epicanthal folds" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "Rubinstein-Taybi syndrome" "" "0000350201" "05619" "00464139" "00006" "Unknown" "5.6y" "Rubinstein-Taybi syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "Rubinstein-Taybi syndrome" "" "0000350207" "05619" "00464145" "00006" "Unknown" "4.1y" "microcephaly, convex nasal ridge, columella below alae nasi, highly arched palate, broad thumbs/halluces, intellectual disability; maternal pre-eclampsia, hypertrichosis; strabismus, thin lips, enamel hypoplasia, carious teeth, ventricular noncompaction" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Rubinstein-Taybi syndrome" "" "0000351417" "05619" "00466033" "00006" "Isolated (sporadic)" "10y07m" "see paper; ..., growth retardation; birth-35w, weight 3.0 kg, hypoxia. asphyxia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "Rubinstein-Taybi syndrome" "" "0000351418" "05619" "00466034" "00006" "Isolated (sporadic)" "02y03m" "see paper; ..., growth retardation; birth-35w, weight 2.13 kg; preterm low birth weight; no intrauterine growth restriction noted" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "RSTS2" "Rubinstein-Taybi syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 68 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000050356" "00050411" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050491" "00050546" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050572" "00050627" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000058597" "00058635" "1" "00006" "00006" "2007-06-22 15:00:00" "01353" "2010-03-29 15:49:01" "MLPA;SEQ" "DNA" "" "" "0000058598" "00058636" "1" "00006" "00006" "2007-06-22 15:00:00" "01353" "2010-03-29 15:45:24" "SEQ" "DNA" "" "" "0000058599" "00058637" "1" "00006" "00006" "2007-06-22 15:00:00" "01353" "2010-03-29 15:47:14" "SEQ" "DNA" "" "" "0000058600" "00058638" "1" "00006" "00006" "2007-06-22 15:00:00" "01353" "2010-03-29 15:55:47" "SEQ" "DNA" "" "" "0000058601" "00058639" "1" "00006" "00006" "2007-06-22 15:00:00" "01353" "2010-03-29 16:00:16" "SEQ" "DNA" "" "" "0000058657" "00058695" "1" "01353" "01353" "2009-08-10 09:55:23" "01353" "2010-03-29 15:45:39" "SEQ" "DNA" "" "" "0000058658" "00058696" "1" "01353" "01353" "2009-08-10 10:30:20" "01353" "2010-03-29 15:46:00" "SEQ" "DNA" "" "" "0000058659" "00058697" "1" "01353" "01353" "2009-10-21 11:34:02" "01353" "2010-03-29 15:51:01" "SEQ" "DNA" "" "" "0000058660" "00058698" "1" "01353" "01353" "2010-03-12 10:33:21" "01353" "2010-03-29 15:50:20" "SEQ" "DNA" "" "" "0000058661" "00058699" "1" "01353" "01353" "2010-03-29 15:28:42" "01353" "2010-08-18 11:13:41" "SEQ" "DNA" "" "" "0000058662" "00058700" "1" "01353" "01353" "2010-03-29 15:32:20" "01353" "2010-03-29 15:52:07" "SEQ" "DNA" "" "" "0000058663" "00058701" "1" "01353" "01353" "2010-04-14 16:35:59" "" "" "SEQ" "DNA" "" "" "0000058664" "00058702" "1" "01353" "01353" "2010-08-05 14:41:29" "01353" "2010-08-18 11:14:13" "SEQ" "DNA" "" "" "0000058665" "00058703" "1" "01353" "01353" "2010-08-18 11:12:20" "01353" "2010-08-18 11:12:45" "SEQ" "DNA" "" "" "0000058666" "00058704" "1" "01353" "01353" "2010-10-21 16:04:29" "" "" "SEQ" "DNA" "" "" "0000058713" "00058751" "1" "01353" "01353" "2011-05-11 17:53:40" "" "" "SEQ" "DNA" "" "" "0000058714" "00058752" "1" "01353" "01353" "2011-05-27 09:26:14" "" "" "SEQ" "DNA" "" "" "0000058715" "00058753" "1" "01353" "01353" "2011-08-05 16:35:32" "" "" "SEQ" "DNA" "" "" "0000058716" "00058754" "1" "01353" "01353" "2012-01-06 17:21:10" "" "" "SEQ" "DNA" "" "" "0000058729" "00058767" "1" "01353" "01353" "2012-06-06 17:18:47" "" "" "SEQ" "DNA" "" "" "0000064762" "00064625" "1" "01593" "01593" "2016-05-02 10:03:28" "" "" "SEQ-NG" "DNA" "Blood" "" "0000079305" "00079120" "1" "01593" "01593" "2016-08-03 11:59:01" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000079306" "00079121" "1" "01593" "01593" "2016-08-03 12:16:26" "" "" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "Blood" "" "0000079307" "00079122" "1" "01593" "01593" "2016-08-03 12:21:32" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000079308" "00079123" "1" "01593" "01593" "2016-08-03 12:26:04" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000079309" "00079124" "1" "01593" "01593" "2016-08-03 12:29:41" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000079310" "00079125" "1" "01593" "01593" "2016-08-03 12:32:45" "" "" "MLPA" "DNA" "Blood" "" "0000081246" "00081134" "1" "01593" "01593" "2016-09-20 09:57:57" "" "" "SEQ-NG" "DNA" "Blood" "" "0000145190" "00144330" "1" "02342" "02342" "2017-12-09 11:04:06" "" "" "SEQ-NG" "DNA" "" "" "0000246771" "00245659" "1" "00006" "00006" "2019-07-05 15:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000246772" "00245660" "1" "00006" "00006" "2019-07-05 15:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000247737" "00246626" "1" "01807" "01807" "2019-07-15 17:43:32" "" "" "SEQ" "DNA" "" "" "0000288264" "00287099" "1" "01807" "01807" "2020-02-12 11:23:55" "" "" "SEQ" "DNA" "" "" "0000294302" "00293134" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297111" "00295939" "1" "01164" "01164" "2020-03-30 10:44:45" "" "" "SEQ-NG-S" "DNA" "" "" "0000304078" "00302953" "1" "00006" "00006" "2020-06-05 09:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306035" "00304906" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel" "0000308398" "00307256" "1" "03753" "03753" "2020-08-06 23:02:03" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes" "0000316174" "00314998" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316175" "00314999" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316176" "00315000" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316225" "00315049" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000328838" "00327624" "1" "01807" "01807" "2021-01-25 10:40:01" "" "" "SEQ" "DNA" "" "" "0000332646" "00331427" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000333470" "00332250" "1" "00000" "00006" "2021-02-16 10:11:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000375921" "00374727" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000382752" "00381537" "1" "01164" "01164" "2021-08-31 15:57:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000393044" "00391801" "1" "02494" "02494" "2021-11-19 11:14:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000433678" "00432237" "1" "00006" "00006" "2023-02-20 16:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436667" "00435192" "1" "01164" "01164" "2023-06-06 09:46:48" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000441882" "00440397" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459799" "00458177" "1" "00006" "00006" "2024-12-06 18:59:16" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "trio WES" "0000459800" "00458178" "1" "00006" "00006" "2024-12-06 19:11:00" "" "" "SEQ" "DNA" "" "trio WES" "0000461031" "00459408" "1" "03544" "03544" "2024-12-27 07:03:18" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000463938" "00462306" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465767" "00464136" "1" "00006" "00006" "2025-02-22 11:39:16" "" "" "MLPA;SEQ" "DNA" "" "" "0000465768" "00464137" "1" "00006" "00006" "2025-02-22 11:39:16" "" "" "MLPA;SEQ" "DNA" "" "" "0000465769" "00464138" "1" "00006" "00006" "2025-02-22 11:39:16" "" "" "MLPA;SEQ" "DNA" "" "" "0000465770" "00464139" "1" "00006" "00006" "2025-02-22 11:39:16" "" "" "MLPA;SEQ" "DNA" "" "" "0000465776" "00464145" "1" "00006" "00006" "2025-02-22 11:39:16" "" "" "MLPA;SEQ" "DNA" "" "" "0000467684" "00466033" "1" "00006" "00006" "2025-07-08 15:37:52" "" "" "SEQ" "DNA" "" "" "0000467685" "00466034" "1" "00006" "00006" "2025-07-08 15:41:31" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 84 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000050356" "EP300" "0000050491" "EP300" "0000050572" "EP300" "0000058597" "EP300" "0000058598" "EP300" "0000058599" "EP300" "0000058600" "EP300" "0000058601" "EP300" "0000058657" "EP300" "0000058658" "EP300" "0000058659" "EP300" "0000058660" "EP300" "0000058661" "EP300" "0000058662" "EP300" "0000058663" "EP300" "0000058664" "EP300" "0000058665" "EP300" "0000058666" "EP300" "0000058713" "EP300" "0000058714" "EP300" "0000058715" "EP300" "0000058716" "EP300" "0000058729" "EP300" "0000064762" "CREBBP" "0000064762" "EP300" "0000079305" "CREBBP" "0000079305" "EP300" "0000079306" "CREBBP" "0000079306" "EP300" "0000079307" "CREBBP" "0000079307" "EP300" "0000079308" "CREBBP" "0000079308" "EP300" "0000079309" "CREBBP" "0000079309" "EP300" "0000079310" "CREBBP" "0000079310" "EP300" "0000081246" "CREBBP" "0000081246" "EP300" "0000246771" "EP300" "0000246772" "EP300" "0000304078" "EP300" "0000316174" "EP300" "0000316175" "EP300" "0000316176" "EP300" "0000316225" "EP300" "0000332646" "EP300" "0000333470" "EP300" "0000375921" "EP300" "0000382752" "EP300" "0000436667" "EP300" "0000459799" "EP300" "0000465767" "EP300" "0000465768" "EP300" "0000465769" "EP300" "0000465770" "EP300" "0000465776" "EP300" "0000467684" "EP300" "0000467685" "EP300" ## 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 = 271 "{{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}}" "0000000902" "3" "30" "22" "41537234" "41537234" "subst" "0.991641" "00006" "EP300_000021" "g.41537234G>T" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs6002267" "0" "" "" "g.41141230G>T" "" "likely benign" "" "0000000903" "3" "30" "22" "41514155" "41514155" "subst" "0" "00006" "EP300_000022" "g.41514155G>A" "" "{PMID:Almomani 2011:21102627} {dbSNP:4822005}" "" "" "" "Germline" "" "" "0" "" "" "g.41118151G>A" "" "likely benign" "" "0000000904" "0" "30" "22" "41575007" "41575009" "del" "0.000541357" "00006" "EP300_000023" "g.41575007_41575009del" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "" "0" "" "" "g.41179003_41179005del" "" "likely benign" "" "0000079336" "0" "90" "22" "41556716" "41556716" "del" "0" "00006" "EP300_000026" "g.41556716del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "41556713_41556716 TC>T" "" "De novo" "" "" "0" "" "" "g.41160712del" "" "pathogenic" "" "0000079552" "0" "90" "22" "41572383" "41572383" "dup" "0" "00006" "EP300_000024" "g.41572383dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "41572382_41572383 G>GC" "" "De novo" "" "" "0" "" "" "g.41176379dup" "" "pathogenic" "" "0000079674" "0" "90" "22" "41573296" "41573296" "subst" "0" "00006" "EP300_000025" "g.41573296C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.41177292C>T" "" "pathogenic" "" "0000089197" "0" "99" "22" "41488222" "41489103" "" "0" "00006" "EP300_000001" "g.(?_41488222)_(41489103_41513190)del" "" "{PMID:Roelfsema 2005:15706485}" "" "deletion ex1" "detected by 4 MLPA probes" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000089198" "0" "99" "22" "41537115" "41537115" "subst" "0" "00006" "EP300_000002" "g.41537115C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41141111C>T" "" "pathogenic" "" "0000089199" "0" "99" "22" "41547896" "41547903" "del" "0" "00006" "EP300_000003" "g.41547896_41547903del" "" "" "" "2877_2884delCACAGAAG" "" "De novo" "" "" "0" "" "" "g.41151892_41151899del" "" "pathogenic" "" "0000089200" "0" "99" "22" "41556680" "41556680" "del" "0" "00006" "EP300_000004" "g.41556680del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41160676del" "" "pathogenic" "" "0000089201" "0" "97" "22" "41574815" "41574815" "del" "0" "00006" "EP300_000005" "g.41574815del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41178811del" "" "pathogenic" "" "0000089257" "0" "99" "22" "41547985" "41547985" "del" "0" "01353" "EP300_000006" "g.41547985del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41151981del" "" "pathogenic" "" "0000089258" "0" "99" "22" "41513814" "41513814" "dup" "0" "01353" "EP300_000007" "g.41513814dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41117810dup" "" "pathogenic" "" "0000089259" "0" "99" "22" "41572404" "41572404" "subst" "0" "01353" "EP300_000008" "g.41572404C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41176400C>T" "" "pathogenic" "" "0000089260" "0" "99" "22" "41527480" "41527483" "del" "0" "01353" "EP300_000009" "g.41527480_41527483del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41131476_41131479del" "" "pathogenic" "" "0000089261" "0" "99" "22" "41521867" "41533795" "" "0" "01353" "EP300_000010" "g.(41513826_41521867)_(41533795_41536143)del" "" "" "" "deletion ex3 to 8" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000089262" "0" "99" "22" "41513734" "41513734" "del" "0" "01353" "EP300_000011" "g.41513734del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41117730del" "" "pathogenic" "" "0000089263" "0" "99" "22" "41536259" "41536259" "subst" "0" "01353" "EP300_000012" "g.41536259C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41140255C>T" "" "pathogenic" "" "0000089264" "0" "99" "22" "41564452" "41569789" "" "0" "01353" "EP300_000013" "g.(41562671_41564452)_(41569789_41572250)del" "" "" "" "deletion ex24 to 29" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000089265" "0" "99" "22" "41525912" "41525914" "delins" "0" "01353" "EP300_000014" "g.41525912_41525914delinsATT" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41129908_41129910delinsATT" "" "pathogenic" "" "0000089266" "0" "99" "22" "41536216" "41536216" "subst" "0" "01353" "EP300_000015" "g.41536216T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41140212T>G" "" "pathogenic" "" "0000089313" "0" "99" "22" "41565566" "41565566" "subst" "0" "01353" "EP300_000016" "g.41565566C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41169562C>T" "" "pathogenic" "" "0000089314" "0" "99" "22" "41566409" "41566409" "subst" "0" "01353" "EP300_000017" "g.41566409G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41170405G>A" "" "pathogenic" "" "0000089315" "0" "99" "22" "41545177" "41545177" "subst" "0" "01353" "EP300_000018" "g.41545177C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41149173C>T" "" "pathogenic" "" "0000089316" "0" "99" "22" "41545822" "41545822" "subst" "0" "01353" "EP300_000019" "g.41545822C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41149818C>T" "" "pathogenic" "" "0000089329" "0" "99" "22" "41564452" "41566576" "" "0" "01353" "EP300_000020" "g.(41562671_41564452)_(41566576_41568502)del" "" "" "" "deletion ex24 to 27" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000096186" "21" "70" "22" "41574937" "41574938" "del" "0" "01593" "EP300_000027" "g.41574937_41574938del" "" "" "" "" "ClinVar SCV000266471; 238/486 reads" "De novo" "yes" "" "0" "" "" "g.41178933_41178934del" "" "likely pathogenic" "" "0000127944" "0" "70" "22" "41572425" "41572428" "dup" "0" "01593" "EP300_000030" "g.41572425_41572428dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41176421_41176424dup" "" "likely pathogenic" "" "0000127945" "0" "70" "22" "41558788" "41558788" "subst" "0" "01593" "EP300_000028" "g.41558788G>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41162784G>C" "" "likely pathogenic" "" "0000127946" "0" "70" "22" "41551019" "41551019" "subst" "0" "01593" "EP300_000032" "g.41551019C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41155015C>T" "" "likely pathogenic" "" "0000127947" "0" "70" "22" "41574342" "41574353" "del" "0" "01593" "EP300_000031" "g.41574342_41574353del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41178338_41178349del" "" "likely pathogenic" "" "0000127948" "0" "70" "22" "41568561" "41568561" "subst" "0" "01593" "EP300_000029" "g.41568561T>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41172557T>G" "" "likely pathogenic" "" "0000127949" "0" "70" "22" "41543840" "41558784" "" "0" "01593" "EP300_000033" "g.(41542821_41543840)_(41558784_41560056)del" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000130337" "0" "70" "22" "41489078" "41489079" "del" "0" "01593" "EP300_000034" "g.41489078_41489079del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.41093074_41093075del" "" "likely pathogenic" "" "0000236267" "0" "70" "22" "41573207" "41573209" "del" "0" "02342" "EP300_000035" "g.41573207_41573209del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.41177203_41177205del" "" "likely pathogenic" "" "0000248807" "0" "10" "22" "41548008" "41548008" "subst" "0.311378" "02325" "EP300_000051" "g.41548008A>G" "" "" "" "EP300(NM_001429.4):c.2989A>G (p.I997V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41152004A>G" "" "benign" "" "0000249454" "0" "30" "22" "41522003" "41522003" "subst" "0.00202676" "02325" "EP300_000039" "g.41522003A>G" "" "" "" "EP300(NM_001429.3):c.865A>G (p.(Met289Val)), EP300(NM_001429.4):c.865A>G (p.M289V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41125999A>G" "" "likely benign" "" "0000249467" "0" "30" "22" "41573426" "41573426" "subst" "0.000163024" "02325" "EP300_000063" "g.41573426A>C" "" "" "" "EP300(NM_001429.4):c.5711A>C (p.(Gln1904Pro), p.Q1904P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41177422A>C" "" "likely benign" "" "0000254638" "0" "30" "22" "41551018" "41551018" "subst" "0.000633528" "01943" "EP300_000052" "g.41551018A>G" "" "" "" "EP300(NM_001429.3):c.3162A>G (p.L1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41155014A>G" "" "likely benign" "" "0000256428" "0" "50" "22" "41573735" "41573735" "subst" "1.62668E-5" "01943" "EP300_000066" "g.41573735A>G" "" "" "" "EP300(NM_001429.3):c.6020A>G (p.Q2007R), EP300(NM_001429.4):c.6020A>G (p.(Gln2007Arg), p.Q2007R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41177731A>G" "" "VUS" "" "0000267837" "0" "10" "22" "41574973" "41574975" "del" "0" "02325" "EP300_000070" "g.41574973_41574975del" "" "" "" "EP300(NM_001429.4):c.*13_*15delGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41178969_41178971del" "" "benign" "" "0000267838" "0" "10" "22" "41537234" "41537234" "subst" "0.991641" "02325" "EP300_000021" "g.41537234G>T" "" "" "" "EP300(NM_001429.4):c.2053+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41141230G>T" "" "benign" "" "0000267839" "0" "30" "22" "41542838" "41542838" "subst" "0.0351134" "02325" "EP300_000045" "g.41542838T>A" "" "" "" "EP300(NM_001429.4):c.2131+18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41146834T>A" "" "likely benign" "" "0000267840" "0" "10" "22" "41551039" "41551039" "subst" "0.664567" "02325" "EP300_000053" "g.41551039T>A" "" "" "" "EP300(NM_001429.4):c.3183T>A (p.T1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41155035T>A" "" "benign" "" "0000267841" "0" "10" "22" "41566595" "41566595" "subst" "0.315137" "02325" "EP300_000058" "g.41566595C>T" "" "" "" "EP300(NM_001429.4):c.4452+20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41170591C>T" "" "benign" "" "0000267842" "0" "70" "22" "41573132" "41573132" "subst" "0" "02325" "EP300_000062" "g.41573132G>A" "" "" "" "EP300(NM_001429.4):c.5417G>A (p.C1806Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41177128G>A" "" "likely pathogenic" "" "0000268857" "0" "90" "22" "41564527" "41564527" "subst" "0" "02329" "EP300_000054" "g.41564527G>T" "" "" "" "EP300(NM_001429.4):c.3949G>T (p.E1317*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41168523G>T" "" "pathogenic" "" "0000276176" "0" "30" "22" "41542780" "41542780" "subst" "0.00349227" "01943" "EP300_000044" "g.41542780T>G" "" "" "" "EP300(NM_001429.3):c.2091T>G (p.S697R, p.(Ser697Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41146776T>G" "" "likely benign" "" "0000276177" "0" "30" "22" "41547957" "41547957" "subst" "0" "01943" "EP300_000050" "g.41547957G>A" "" "" "" "EP300(NM_001429.3):c.2938G>A (p.A980T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41151953G>A" "" "likely benign" "" "0000276178" "0" "50" "22" "41565569" "41565569" "subst" "1.2205E-5" "01943" "EP300_000056" "g.41565569C>T" "" "" "" "EP300(NM_001429.3):c.4235C>T (p.A1412V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41169565C>T" "" "VUS" "" "0000329031" "0" "50" "22" "41513242" "41513242" "subst" "1.62442E-5" "01804" "EP300_000036" "g.41513242A>G" "" "" "" "EP300(NM_001429.3):c.146A>G (p.(Asn49Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41117238A>G" "" "VUS" "" "0000329034" "0" "30" "22" "41522003" "41522003" "subst" "0.00202676" "01804" "EP300_000039" "g.41522003A>G" "" "" "" "EP300(NM_001429.3):c.865A>G (p.(Met289Val)), EP300(NM_001429.4):c.865A>G (p.M289V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41125999A>G" "" "likely benign" "" "0000329035" "0" "30" "22" "41531859" "41531859" "subst" "0" "01804" "EP300_000040" "g.41531859C>T" "" "" "" "EP300(NM_001429.3):c.1571C>T (p.(Thr524Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41135855C>T" "" "likely benign" "" "0000329037" "0" "50" "22" "41533712" "41533712" "subst" "4.06085E-6" "01804" "EP300_000042" "g.41533712G>A" "" "" "" "EP300(NM_001429.3):c.1678G>A (p.(Ala560Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41137708G>A" "" "VUS" "" "0000329039" "0" "10" "22" "41542780" "41542780" "subst" "0.00349227" "01804" "EP300_000044" "g.41542780T>G" "" "" "" "EP300(NM_001429.3):c.2091T>G (p.S697R, p.(Ser697Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41146776T>G" "" "benign" "" "0000329040" "0" "50" "22" "41545039" "41545039" "subst" "0" "01804" "EP300_000046" "g.41545039C>A" "" "" "" "EP300(NM_001429.3):c.2242-3C>A (p.?), EP300(NM_001429.4):c.2242-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41149035C>A" "" "VUS" "" "0000329041" "0" "50" "22" "41545960" "41545960" "subst" "1.21992E-5" "01804" "EP300_000047" "g.41545960A>G" "" "" "" "EP300(NM_001429.3):c.2575A>G (p.(Ile859Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41149956A>G" "" "VUS" "" "0000329042" "0" "50" "22" "41546131" "41546131" "subst" "1.64337E-5" "01804" "EP300_000048" "g.41546131T>A" "" "" "" "EP300(NM_001429.3):c.2746T>A (p.(Ser916Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41150127T>A" "" "VUS" "" "0000329043" "0" "50" "22" "41546140" "41546149" "dup" "0" "01804" "EP300_000049" "g.41546140_41546149dup" "" "" "" "EP300(NM_001429.3):c.2746_2747insCACAGCAGAG (p.(Ala922GlufsTer30))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41150136_41150145dup" "" "VUS" "" "0000329044" "0" "30" "22" "41564600" "41564600" "subst" "0" "01804" "EP300_000055" "g.41564600C>T" "" "" "" "EP300(NM_001429.3):c.4022C>T (p.(Ala1341Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41168596C>T" "" "likely benign" "" "0000329045" "0" "50" "22" "41566523" "41566523" "subst" "0" "01804" "EP300_000057" "g.41566523A>G" "" "" "" "EP300(NM_001429.3):c.4400A>G (p.(Tyr1467Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41170519A>G" "" "VUS" "" "0000329046" "0" "30" "22" "41569726" "41569726" "subst" "8.12156E-6" "01804" "EP300_000060" "g.41569726A>G" "" "" "" "EP300(NM_001429.3):c.4717A>G (p.(Met1573Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41173722A>G" "" "likely benign" "" "0000329050" "0" "50" "22" "41574152" "41574152" "subst" "2.03562E-5" "01804" "EP300_000067" "g.41574152C>A" "" "" "" "EP300(NM_001429.3):c.6437C>A (p.(Pro2146His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41178148C>A" "" "VUS" "" "0000329051" "0" "30" "22" "41574342" "41574353" "del" "0" "01804" "EP300_000069" "g.41574342_41574353del" "" "" "" "EP300(NM_001429.3):c.6627_6638del (p.(Asn2209_Gln2213delinsLys)), EP300(NM_001429.3):c.6627_6638delCCAGTTCCAGCA (p.N2209_Q2213delinsK), EP300(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41178338_41178349del" "" "likely benign" "" "0000342188" "0" "90" "22" "41513694" "41513694" "subst" "0" "02327" "EP300_000073" "g.41513694C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41117690C>T" "" "pathogenic" "" "0000342714" "0" "50" "22" "41523642" "41523642" "subst" "4.06154E-6" "02327" "EP300_000074" "g.41523642G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41127638G>A" "" "VUS" "" "0000343185" "0" "90" "22" "41536259" "41536259" "subst" "0" "02327" "EP300_000012" "g.41536259C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41140255C>T" "" "pathogenic" "" "0000344921" "0" "90" "22" "41513283" "41513283" "subst" "0" "02327" "EP300_000072" "g.41513283C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41117279C>T" "" "pathogenic" "" "0000348605" "0" "50" "22" "41546041" "41546041" "subst" "0" "02327" "EP300_000075" "g.41546041C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41150037C>A" "" "VUS" "" "0000499557" "0" "90" "22" "41573186" "41573186" "subst" "0" "00006" "EP300_000078" "g.41573186A>C" "" "{PMID:Menke 2018:29460469}" "" "" "" "De novo" "" "" "0" "" "" "g.41177182A>C" "" "pathogenic (dominant)" "" "0000499558" "0" "90" "22" "41573207" "41573209" "del" "0" "00006" "EP300_000035" "g.41573207_41573209del" "" "{PMID:Menke 2018:29460469}" "" "" "" "De novo" "" "" "0" "" "" "g.41177203_41177205del" "" "pathogenic (dominant)" "" "0000500606" "0" "90" "22" "41573688" "41573688" "dup" "0" "01807" "EP300_000079" "g.41573688dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41177684dup" "" "pathogenic" "" "0000572118" "0" "50" "22" "41513244" "41513244" "subst" "4.06101E-6" "01804" "EP300_000080" "g.41513244T>C" "" "" "" "EP300(NM_001429.3):c.148T>C (p.(Ser50Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41117240T>C" "" "VUS" "" "0000572119" "0" "30" "22" "41513327" "41513327" "subst" "0.000198975" "01943" "EP300_000081" "g.41513327A>G" "" "" "" "EP300(NM_001429.3):c.231A>G (p.K77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41117323A>G" "" "likely benign" "" "0000572120" "0" "50" "22" "41513689" "41513689" "subst" "0" "01804" "EP300_000082" "g.41513689C>T" "" "" "" "EP300(NM_001429.3):c.593C>T (p.(Ala198Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41117685C>T" "" "VUS" "" "0000572121" "0" "30" "22" "41513727" "41513727" "subst" "0.00592197" "01804" "EP300_000083" "g.41513727G>A" "" "" "" "EP300(NM_001429.3):c.631G>A (p.(Gly211Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41117723G>A" "" "likely benign" "" "0000572122" "0" "30" "22" "41523759" "41523759" "subst" "0.00688368" "01804" "EP300_000084" "g.41523759G>C" "" "" "" "EP300(NM_001429.3):c.1168+7G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41127755G>C" "" "likely benign" "" "0000572123" "0" "30" "22" "41527394" "41527394" "subst" "4.46711E-5" "01804" "EP300_000085" "g.41527394A>G" "" "" "" "EP300(NM_001429.3):c.1285A>G (p.(Ile429Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41131390A>G" "" "likely benign" "" "0000572124" "0" "30" "22" "41527464" "41527464" "subst" "8.1213E-6" "01804" "EP300_000086" "g.41527464A>G" "" "" "" "EP300(NM_001429.3):c.1355A>G (p.(Asn452Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41131460A>G" "" "likely benign" "" "0000572125" "0" "10" "22" "41527628" "41527628" "subst" "0.00188429" "01943" "EP300_000087" "g.41527628A>G" "" "" "" "EP300(NM_001429.3):c.1519A>G (p.S507G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41131624A>G" "" "benign" "" "0000572126" "0" "30" "22" "41531841" "41531841" "subst" "0" "02327" "EP300_000088" "g.41531841G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41135837G>A" "" "likely benign" "" "0000572127" "0" "30" "22" "41531859" "41531859" "subst" "0" "02327" "EP300_000040" "g.41531859C>T" "" "" "" "EP300(NM_001429.3):c.1571C>T (p.(Thr524Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41135855C>T" "" "likely benign" "" "0000572128" "0" "50" "22" "41531867" "41531867" "subst" "0" "02327" "EP300_000089" "g.41531867C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41135863C>T" "" "VUS" "" "0000572129" "0" "70" "22" "41536193" "41536193" "subst" "0" "02327" "EP300_000090" "g.41536193C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41140189C>G" "" "likely pathogenic" "" "0000572130" "0" "90" "22" "41543891" "41543891" "del" "0" "01943" "EP300_000091" "g.41543891del" "" "" "" "EP300(NM_001429.3):c.2182delC (p.R728Gfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41147887del" "" "pathogenic" "" "0000572131" "0" "30" "22" "41545039" "41545039" "subst" "0" "02325" "EP300_000046" "g.41545039C>A" "" "" "" "EP300(NM_001429.3):c.2242-3C>A (p.?), EP300(NM_001429.4):c.2242-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41149035C>A" "" "likely benign" "" "0000572132" "0" "30" "22" "41545039" "41545039" "subst" "0" "01804" "EP300_000092" "g.41545039C>T" "" "" "" "EP300(NM_001429.3):c.2242-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41149035C>T" "" "likely benign" "" "0000572133" "0" "30" "22" "41545151" "41545151" "subst" "0.000129946" "01804" "EP300_000093" "g.41545151C>T" "" "" "" "EP300(NM_001429.3):c.2351C>T (p.(Pro784Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41149147C>T" "" "likely benign" "" "0000572134" "0" "30" "22" "41545994" "41545994" "subst" "0.000357651" "01804" "EP300_000094" "g.41545994C>T" "" "" "" "EP300(NM_001429.3):c.2609C>T (p.P870L, p.(Pro870Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41149990C>T" "" "likely benign" "" "0000572135" "0" "30" "22" "41546030" "41546030" "subst" "0.000117922" "01804" "EP300_000095" "g.41546030C>G" "" "" "" "EP300(NM_001429.3):c.2645C>G (p.(Pro882Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41150026C>G" "" "likely benign" "" "0000572137" "0" "30" "22" "41546158" "41546158" "subst" "0.00385891" "01804" "EP300_000097" "g.41546158C>A" "" "" "" "EP300(NM_001429.3):c.2773C>A (p.(Pro925Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41150154C>A" "" "likely benign" "" "0000572138" "0" "50" "22" "41548223" "41548223" "subst" "1.21918E-5" "01804" "EP300_000098" "g.41548223A>T" "" "" "" "EP300(NM_001429.3):c.3011A>T (p.(Asp1004Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41152219A>T" "" "VUS" "" "0000572140" "0" "30" "22" "41550996" "41550996" "subst" "0" "01804" "EP300_000100" "g.41550996A>T" "" "" "" "EP300(NM_001429.3):c.3143-3A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41154992A>T" "" "likely benign" "" "0000572141" "0" "30" "22" "41550997" "41550997" "subst" "0" "01804" "EP300_000101" "g.41550997A>T" "" "" "" "EP300(NM_001429.3):c.3143-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41154993A>T" "" "likely benign" "" "0000572142" "0" "30" "22" "41550998" "41550998" "subst" "0" "01804" "EP300_000102" "g.41550998G>T" "" "" "" "EP300(NM_001429.3):c.3143-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41154994G>T" "" "likely benign" "" "0000572143" "0" "90" "22" "41553173" "41553173" "del" "0" "01943" "EP300_000103" "g.41553173del" "" "" "" "EP300(NM_001429.3):c.3262-1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41157169del" "" "pathogenic" "" "0000572144" "0" "30" "22" "41553263" "41553263" "subst" "3.2496E-5" "01804" "EP300_000104" "g.41553263G>A" "" "" "" "EP300(NM_001429.3):c.3352G>A (p.(Val1118Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41157259G>A" "" "likely benign" "" "0000572145" "0" "70" "22" "41556727" "41556727" "subst" "0" "02327" "EP300_000105" "g.41556727G>A" "" "" "" "EP300(NM_001429.4):c.3671+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41160723G>A" "" "likely pathogenic" "" "0000572146" "0" "70" "22" "41560067" "41560067" "subst" "0" "02325" "EP300_000106" "g.41560067T>C" "" "" "" "EP300(NM_001429.4):c.3739T>C (p.C1247R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41164063T>C" "" "likely pathogenic" "" "0000572147" "0" "50" "22" "41560068" "41560068" "subst" "0" "02329" "EP300_000107" "g.41560068G>A" "" "" "" "EP300(NM_001429.4):c.3740G>A (p.C1247Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41164064G>A" "" "VUS" "" "0000572148" "0" "50" "22" "41560079" "41560079" "subst" "5.68537E-5" "01804" "EP300_000108" "g.41560079G>A" "" "" "" "EP300(NM_001429.3):c.3751G>A (p.(Gly1251Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41164075G>A" "" "VUS" "" "0000572149" "0" "10" "22" "41564708" "41564708" "subst" "0.0887691" "02325" "EP300_000109" "g.41564708C>A" "" "" "" "EP300(NM_001429.4):c.4026-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41168704C>A" "" "benign" "" "0000572150" "0" "10" "22" "41568553" "41568553" "subst" "0.00312797" "01943" "EP300_000110" "g.41568553G>A" "" "" "" "EP300(NM_001429.3):c.4503G>A (p.L1501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41172549G>A" "" "benign" "" "0000572151" "0" "30" "22" "41568649" "41568649" "subst" "0.000179736" "01943" "EP300_000111" "g.41568649C>G" "" "" "" "EP300(NM_001429.3):c.4599C>G (p.T1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41172645C>G" "" "likely benign" "" "0000572152" "0" "10" "22" "41569609" "41569609" "subst" "0.303029" "02325" "EP300_000112" "g.41569609C>T" "" "" "" "EP300(NM_001429.4):c.4618-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41173605C>T" "" "benign" "" "0000572153" "0" "70" "22" "41572254" "41572254" "subst" "0" "02327" "EP300_000113" "g.41572254T>G" "" "" "" "EP300(NM_001429.4):c.4783T>G (p.F1595V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41176250T>G" "" "likely pathogenic" "" "0000572154" "0" "30" "22" "41572862" "41572862" "subst" "0.000296526" "01804" "EP300_000114" "g.41572862G>C" "" "" "" "EP300(NM_001429.3):c.5147G>C (p.(Ser1716Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41176858G>C" "" "likely benign" "" "0000572155" "0" "50" "22" "41572960" "41572960" "subst" "0" "01943" "EP300_000115" "g.41572960C>T" "" "" "" "EP300(NM_001429.3):c.5245C>T (p.R1749W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41176956C>T" "" "VUS" "" "0000572156" "0" "30" "22" "41573121" "41573121" "subst" "0.000215608" "01943" "EP300_000116" "g.41573121G>A" "" "" "" "EP300(NM_001429.3):c.5406G>A (p.P1802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41177117G>A" "" "likely benign" "" "0000572157" "0" "50" "22" "41573384" "41573384" "subst" "0.000179271" "01943" "EP300_000117" "g.41573384C>G" "" "" "" "EP300(NM_001429.3):c.5669C>G (p.T1890S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41177380C>G" "" "VUS" "" "0000572162" "0" "30" "22" "41574342" "41574353" "del" "0" "02325" "EP300_000031" "g.41574342_41574353del" "" "" "" "EP300(NM_001429.3):c.6627_6638del (p.(Asn2209_Gln2213delinsLys)), EP300(NM_001429.3):c.6627_6638delCCAGTTCCAGCA (p.N2209_Q2213delinsK), EP300(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41178338_41178349del" "" "likely benign" "" "0000572163" "0" "10" "22" "41574383" "41574383" "subst" "0.0238494" "01804" "EP300_000122" "g.41574383A>C" "" "" "" "EP300(NM_001429.4):c.6668A>C (p.(Gln2223Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41178379A>C" "" "benign" "" "0000618609" "0" "50" "22" "41527466" "41527466" "subst" "4.06062E-6" "02325" "EP300_000124" "g.41527466C>G" "" "" "" "EP300(NM_001429.4):c.1357C>G (p.L453V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41131462C>G" "" "VUS" "" "0000618610" "0" "30" "22" "41545994" "41545994" "subst" "0.000357651" "01943" "EP300_000094" "g.41545994C>T" "" "" "" "EP300(NM_001429.3):c.2609C>T (p.P870L, p.(Pro870Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41149990C>T" "" "likely benign" "" "0000618611" "0" "30" "22" "41550996" "41550996" "subst" "0" "01943" "EP300_000100" "g.41550996A>T" "" "" "" "EP300(NM_001429.3):c.3143-3A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41154992A>T" "" "likely benign" "" "0000618612" "0" "30" "22" "41550997" "41550997" "subst" "0" "01943" "EP300_000101" "g.41550997A>T" "" "" "" "EP300(NM_001429.3):c.3143-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41154993A>T" "" "likely benign" "" "0000618613" "0" "50" "22" "41574685" "41574685" "subst" "1.21838E-5" "02325" "EP300_000130" "g.41574685C>T" "" "" "" "EP300(NM_001429.4):c.6970C>T (p.H2324Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41178681C>T" "" "VUS" "" "0000624312" "0" "50" "22" "41513389" "41513389" "subst" "0" "01943" "EP300_000123" "g.41513389G>A" "" "" "" "EP300(NM_001429.3):c.293G>A (p.G98D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41117385G>A" "" "VUS" "" "0000624313" "0" "30" "22" "41536270" "41536270" "subst" "0.000369534" "01943" "EP300_000125" "g.41536270C>G" "" "" "" "EP300(NM_001429.3):c.1878+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41140266C>G" "" "likely benign" "" "0000624314" "0" "30" "22" "41545858" "41545858" "subst" "2.03075E-5" "01943" "EP300_000126" "g.41545858C>T" "" "" "" "EP300(NM_001429.3):c.2473C>T (p.P825S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41149854C>T" "" "likely benign" "" "0000624315" "0" "30" "22" "41548242" "41548242" "subst" "0.000430751" "01943" "EP300_000127" "g.41548242C>G" "" "" "" "EP300(NM_001429.3):c.3030C>G (p.T1010=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41152238C>G" "" "likely benign" "" "0000624316" "0" "30" "22" "41553265" "41553265" "subst" "0.000922097" "01943" "EP300_000128" "g.41553265C>T" "" "" "" "EP300(NM_001429.3):c.3354C>T (p.V1118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41157261C>T" "" "likely benign" "" "0000624317" "0" "30" "22" "41573830" "41573830" "subst" "1.22108E-5" "01943" "EP300_000129" "g.41573830A>G" "" "" "" "EP300(NM_001429.3):c.6115A>G (p.S2039G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41177826A>G" "" "likely benign" "" "0000644177" "0" "90" "22" "41572346" "41572346" "dup" "0" "01807" "EP300_000131" "g.41572346dup" "" "" "" "4875dupT" "" "Unknown" "" "" "0" "" "" "g.41176342dup" "" "pathogenic" "" "0000650991" "1" "30" "22" "41572541" "41572541" "subst" "0.0260274" "03575" "EP300_000132" "g.41572541C>T" "175/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "175 heterozygous; {DB:CLININrs73176628}" "Germline" "" "rs73176628" "0" "" "" "g.41176537C>T" "" "likely benign" "" "0000658967" "0" "50" "22" "41573576" "41573576" "subst" "0" "02327" "EP300_000134" "g.41573576A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41177572A>C" "" "VUS" "" "0000658968" "0" "30" "22" "41574513" "41574515" "del" "0" "02325" "EP300_000135" "g.41574513_41574515del" "" "" "" "EP300(NM_001429.3):c.6798_6800del (p.(Gln2268del)), EP300(NM_001429.4):c.6798_6800delGCA (p.Q2268del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41178509_41178511del" "" "likely benign" "" "0000659727" "0" "70" "22" "41523747" "41523747" "dup" "0" "01164" "EP300_000136" "g.41523747dup" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.41127743dup" "" "likely pathogenic" "ACMG" "0000667476" "0" "70" "22" "41574289" "41574300" "del" "0" "00006" "EP300_000137" "g.41574289_41574300del" "" "{PMID:Fieremans 2016:27159028}" "" "6567_6578del" "" "Germline/De novo (untested)" "" "" "0" "skewed X-inactivation (4:96 ?)" "" "g.41178285_41178296del" "" "likely pathogenic" "" "0000669723" "3" "30" "22" "41572541" "41572541" "subst" "0.0260274" "03575" "EP300_000132" "g.41572541C>T" "2/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs73176628}" "Germline" "" "rs73176628" "0" "" "" "g.41176537C>T" "" "likely benign" "" "0000675192" "0" "70" "22" "41546188" "41546188" "subst" "0" "03753" "EP300_000140" "g.41546188C>T" "0.051" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000675193" "0" "70" "22" "41566520" "41566520" "subst" "0" "03753" "EP300_000143" "g.41566520G>A" "0.053" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000675194" "0" "70" "22" "41573318" "41573319" "ins" "0" "03753" "EP300_000144" "g.41573318_41573319insAT" "0.218" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000681902" "0" "30" "22" "41542753" "41542753" "subst" "0.00312368" "01943" "EP300_000139" "g.41542753A>G" "" "" "" "EP300(NM_001429.3):c.2064A>G (p.L688=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681903" "0" "30" "22" "41547908" "41547908" "subst" "8.93662E-5" "01943" "EP300_000141" "g.41547908T>C" "" "" "" "EP300(NM_001429.3):c.2889T>C (p.N963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681904" "0" "50" "22" "41573735" "41573735" "subst" "1.62668E-5" "02325" "EP300_000066" "g.41573735A>G" "" "" "" "EP300(NM_001429.3):c.6020A>G (p.Q2007R), EP300(NM_001429.4):c.6020A>G (p.(Gln2007Arg), p.Q2007R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681905" "0" "30" "22" "41573745" "41573745" "subst" "0" "01804" "EP300_000146" "g.41573745G>T" "" "" "" "EP300(NM_001429.3):c.6030G>T (p.(Met2010Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681906" "0" "30" "22" "41574351" "41574351" "subst" "0.00186087" "01943" "EP300_000147" "g.41574351G>A" "" "" "" "EP300(NM_001429.3):c.6636G>A (p.Q2212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682706" "0" "70" "22" "41554505" "41554505" "subst" "0" "03753" "EP300_000142" "g.41554505G>A" "0.035" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682728" "0" "70" "22" "41573407" "41573407" "subst" "0" "03753" "EP300_000145" "g.41573407C>T" "0.035" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000682729" "0" "70" "22" "41513826" "41513826" "subst" "0" "03753" "EP300_000138" "g.41513826G>A" "0.064" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000698324" "0" "70" "22" "41489057" "41489057" "subst" "0" "00006" "EP300_000148" "g.41489057A>G" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41093053A>G" "" "likely pathogenic" "ACMG" "0000698325" "0" "90" "22" "41543930" "41543930" "subst" "0" "00006" "EP300_000149" "g.41543930C>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.41147926C>T" "" "pathogenic (dominant)" "ACMG" "0000698326" "0" "90" "22" "41545910" "41545910" "del" "0" "00006" "EP300_000150" "g.41545910del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41149906del" "" "pathogenic" "ACMG" "0000698375" "0" "50" "22" "41574626" "41574626" "subst" "4.062E-6" "00006" "EP300_000151" "g.41574626C>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41178622C>A" "" "VUS" "ACMG" "0000703999" "0" "50" "22" "41564554" "41564554" "subst" "0" "03779" "EP300_000152" "g.41564554G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1268191227" "0" "" "" "" "" "VUS" "" "0000712959" "0" "90" "22" "41558740" "41558740" "subst" "0" "01807" "EP300_000153" "g.41558740G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000728186" "0" "50" "22" "41548271" "41548271" "subst" "0" "02329" "EP300_000099" "g.41548271A>C" "" "" "" "EP300(NM_001429.4):c.3059A>C (p.K1020T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728187" "0" "30" "22" "41550992" "41550992" "subst" "0" "01804" "EP300_000155" "g.41550992T>G" "" "" "" "EP300(NM_001429.3):c.3143-7T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728188" "0" "70" "22" "41556727" "41556727" "subst" "0" "02325" "EP300_000105" "g.41556727G>A" "" "" "" "EP300(NM_001429.4):c.3671+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728189" "0" "50" "22" "41568666" "41568666" "subst" "0" "02329" "EP300_000059" "g.41568666A>G" "" "" "" "EP300(NM_001429.4):c.4616A>G (p.D1539G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728190" "0" "50" "22" "41573528" "41573528" "subst" "4.06243E-6" "02329" "EP300_000118" "g.41573528C>T" "" "" "" "EP300(NM_001429.4):c.5813C>T (p.T1938M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728191" "0" "50" "22" "41574161" "41574161" "subst" "0" "02329" "EP300_000068" "g.41574161A>G" "" "" "" "EP300(NM_001429.4):c.6446A>G (p.Q2149R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728192" "0" "50" "22" "41574935" "41574935" "subst" "0" "02327" "EP300_000156" "g.41574935C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729928" "0" "90" "22" "41523676" "41523676" "subst" "0" "00000" "EP300_000154" "g.41523676C>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001429.3:c.1092C>A:p.(Cys364*)" "" "De novo" "" "" "0" "" "" "g.41127672C>A" "" "likely pathogenic (dominant)" "" "0000731121" "1" "50" "22" "41523653" "41523653" "subst" "4.0619E-6" "00000" "EP300_000157" "g.41523653G>A" "" "{PMID:Astuti 2018:29320387}" "" "" "ACMG PP1, PP3, PM2" "Germline" "" "" "0" "" "" "g.41127649G>A" "" "VUS" "ACMG" "0000787272" "0" "50" "22" "41554473" "41554473" "subst" "0" "00006" "EP300_000158" "g.41554473C>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs745492786" "0" "" "" "g.41158469C>T" "" "VUS" "" "0000795474" "0" "70" "22" "41572518" "41572518" "subst" "0" "03779" "EP300_000159" "g.41572518T>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796596" "0" "50" "22" "41572907" "41572907" "subst" "0" "01164" "EP300_000160" "g.41572907G>A" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000809643" "0" "30" "22" "41513412" "41513412" "subst" "0.000487357" "01804" "EP300_000161" "g.41513412A>G" "" "" "" "EP300(NM_001429.3):c.316A>G (p.(Ser106Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809644" "0" "30" "22" "41513812" "41513812" "subst" "0" "02327" "EP300_000162" "g.41513812C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809645" "0" "50" "22" "41548310" "41548310" "subst" "0" "02325" "EP300_000163" "g.41548310C>T" "" "" "" "EP300(NM_001429.4):c.3098C>T (p.S1033L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809646" "0" "30" "22" "41548317" "41548317" "subst" "0.000593621" "01943" "EP300_000164" "g.41548317C>T" "" "" "" "EP300(NM_001429.3):c.3105C>T (p.T1035=), EP300(NM_001429.4):c.3105C>T (p.(Thr1035=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809647" "0" "50" "22" "41572942" "41572942" "subst" "0" "02325" "EP300_000165" "g.41572942G>A" "" "" "" "EP300(NM_001429.4):c.5227G>A (p.V1743I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809648" "0" "50" "22" "41573444" "41573444" "subst" "0" "02325" "EP300_000166" "g.41573444C>T" "" "" "" "EP300(NM_001429.4):c.5729C>T (p.P1910L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809649" "0" "30" "22" "41574342" "41574353" "del" "0" "01943" "EP300_000031" "g.41574342_41574353del" "" "" "" "EP300(NM_001429.3):c.6627_6638del (p.(Asn2209_Gln2213delinsLys)), EP300(NM_001429.3):c.6627_6638delCCAGTTCCAGCA (p.N2209_Q2213delinsK), EP300(NM_0...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809650" "0" "30" "22" "41574458" "41574458" "subst" "4.06504E-6" "01943" "EP300_000167" "g.41574458C>T" "" "" "" "EP300(NM_001429.3):c.6743C>T (p.A2248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809651" "0" "50" "22" "41574494" "41574494" "subst" "0" "01943" "EP300_000168" "g.41574494A>G" "" "" "" "EP300(NM_001429.3):c.6779A>G (p.Y2260C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000823630" "0" "70" "22" "41513703" "41513703" "subst" "0" "02494" "EP300_000169" "g.41513703C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000856182" "0" "30" "22" "41533720" "41533720" "subst" "0.000259888" "01943" "EP300_000170" "g.41533720A>C" "" "" "" "EP300(NM_001429.3):c.1686A>C (p.P562=), EP300(NM_001429.4):c.1686A>C (p.(Pro562=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856183" "0" "10" "22" "41545038" "41545038" "dup" "0" "02325" "EP300_000172" "g.41545038dup" "" "" "" "EP300(NM_001429.4):c.2242-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000856184" "0" "70" "22" "41572254" "41572254" "subst" "0" "02325" "EP300_000113" "g.41572254T>G" "" "" "" "EP300(NM_001429.4):c.4783T>G (p.F1595V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856185" "0" "30" "22" "41572542" "41572542" "subst" "0.000982061" "01943" "EP300_000173" "g.41572542G>A" "" "" "" "EP300(NM_001429.3):c.5061+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856186" "0" "30" "22" "41573907" "41573907" "subst" "4.87484E-5" "01943" "EP300_000175" "g.41573907C>A" "" "" "" "EP300(NM_001429.3):c.6192C>A (p.P2064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866866" "0" "50" "22" "41533785" "41533785" "subst" "0" "02326" "EP300_000171" "g.41533785T>C" "" "" "" "EP300(NM_001429.4):c.1751T>C (p.V584A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866867" "0" "50" "22" "41573775" "41573775" "subst" "0" "01943" "EP300_000174" "g.41573775G>C" "" "" "" "EP300(NM_001429.3):c.6060G>C (p.Q2020H), EP300(NM_001429.4):c.6060G>C (p.Q2020H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866868" "0" "30" "22" "41574277" "41574277" "subst" "0" "01804" "EP300_000176" "g.41574277A>G" "" "" "" "EP300(NM_001429.3):c.6562A>G (p.(Met2188Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866869" "0" "30" "22" "41574513" "41574515" "del" "0" "01804" "EP300_000135" "g.41574513_41574515del" "" "" "" "EP300(NM_001429.3):c.6798_6800del (p.(Gln2268del)), EP300(NM_001429.4):c.6798_6800delGCA (p.Q2268del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895763" "0" "90" "22" "41533772" "41533772" "subst" "0" "02327" "EP300_000177" "g.41533772C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895764" "0" "50" "22" "41566495" "41566495" "subst" "0" "02329" "EP300_000178" "g.41566495C>A" "" "" "" "EP300(NM_001429.4):c.4372C>A (p.P1458T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895765" "0" "70" "22" "41572256" "41572256" "subst" "0" "02327" "EP300_000179" "g.41572256C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895766" "0" "50" "22" "41572453" "41572453" "subst" "0" "02325" "EP300_000180" "g.41572453A>G" "" "" "" "EP300(NM_001429.4):c.4982A>G (p.Q1661R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895767" "0" "50" "22" "41573203" "41573203" "subst" "0" "02327" "EP300_000181" "g.41573203A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915556" "0" "70" "22" "41545870" "41545870" "subst" "0" "02327" "EP300_000182" "g.41545870C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000919309" "0" "90" "22" "41545884" "41545884" "dup" "0" "00006" "EP300_000183" "g.41545884dup" "" "{PMID:Bai 2023:36797748}" "" "2499dupG" "ACMG PVS1, PS2,  PM2" "De novo" "" "" "0" "" "" "g.41149880dup" "" "pathogenic (dominant)" "ACMG" "0000927184" "0" "50" "22" "41537179" "41537179" "subst" "4.06118E-6" "02325" "EP300_000184" "g.41537179T>A" "" "" "" "EP300(NM_001429.4):c.2006T>A (p.M669K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927185" "0" "50" "22" "41573775" "41573775" "subst" "0" "02325" "EP300_000174" "g.41573775G>C" "" "" "" "EP300(NM_001429.3):c.6060G>C (p.Q2020H), EP300(NM_001429.4):c.6060G>C (p.Q2020H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927760" "0" "50" "22" "41566477" "41566477" "subst" "0" "01164" "EP300_000185" "g.41566477C>A" "" "" "LanerMGZ" "" "ACMG: PS2, PP3_MOD, PM2_SUP, confirmed de novo in trio exome, clinical suspicion of a RSTS2" "De novo" "-" "" "0" "" "" "g.41170473C>A" "" "likely pathogenic (dominant)" "ACMG" "0000939824" "0" "90" "22" "41551022" "41551022" "subst" "0" "00006" "EP300_000186" "g.41551022C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.41155018C>T" "" "pathogenic (dominant)" "" "0000951616" "0" "50" "22" "41564582" "41564582" "subst" "0" "02325" "EP300_000187" "g.41564582T>G" "" "" "" "EP300(NM_001429.4):c.4004T>G (p.V1335G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951617" "0" "50" "22" "41573047" "41573047" "subst" "0" "02329" "EP300_000188" "g.41573047G>T" "" "" "" "EP300(NM_001429.4):c.5332G>T (p.G1778W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000970504" "0" "30" "22" "41573882" "41573882" "subst" "8.1316E-6" "01804" "EP300_000191" "g.41573882G>A" "" "" "" "EP300(NM_001429.3):c.6167G>A (p.(Arg2056Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000972348" "0" "70" "22" "41545169" "41545170" "del" "0" "03779" "EP300_000194" "g.41545169_41545170del" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000984255" "0" "50" "22" "41527626" "41527626" "subst" "0" "01804" "EP300_000192" "g.41527626T>C" "" "" "" "EP300(NM_001429.4):c.1517T>C (p.(Met506Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984256" "0" "30" "22" "41545038" "41545038" "subst" "2.85752E-5" "01804" "EP300_000193" "g.41545038T>C" "" "" "" "EP300(NM_001429.4):c.2242-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984257" "0" "30" "22" "41548026" "41548026" "subst" "0" "01804" "EP300_000195" "g.41548026G>A" "" "" "" "EP300(NM_001429.4):c.2997+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984258" "0" "90" "22" "41562653" "41562653" "subst" "0" "01804" "EP300_000196" "g.41562653A>G" "" "" "" "EP300(NM_001429.4):c.3857A>G (p.(Asn1286Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984259" "0" "30" "22" "41573426" "41573426" "subst" "0.000163024" "01804" "EP300_000063" "g.41573426A>C" "" "" "" "EP300(NM_001429.4):c.5711A>C (p.(Gln1904Pro), p.Q1904P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984260" "0" "50" "22" "41573735" "41573735" "subst" "1.62668E-5" "01804" "EP300_000066" "g.41573735A>G" "" "" "" "EP300(NM_001429.3):c.6020A>G (p.Q2007R), EP300(NM_001429.4):c.6020A>G (p.(Gln2007Arg), p.Q2007R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984261" "0" "30" "22" "41573800" "41573800" "subst" "1.62743E-5" "01804" "EP300_000197" "g.41573800C>T" "" "" "" "EP300(NM_001429.4):c.6085C>T (p.(Pro2029Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984262" "0" "30" "22" "41574238" "41574238" "subst" "4.06544E-6" "01804" "EP300_000198" "g.41574238A>C" "" "" "" "EP300(NM_001429.4):c.6523A>C (p.(Met2175Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984263" "0" "30" "22" "41574326" "41574326" "subst" "0" "01804" "EP300_000199" "g.41574326G>T" "" "" "" "EP300(NM_001429.4):c.6611G>T (p.(Gly2204Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984264" "0" "30" "22" "41574389" "41574391" "del" "0" "01804" "EP300_000200" "g.41574389_41574391del" "" "" "" "EP300(NM_001429.4):c.6674_6676del (p.(Gln2225del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984265" "0" "30" "22" "41574632" "41574632" "subst" "0.000121871" "01804" "EP300_000201" "g.41574632A>G" "" "" "" "EP300(NM_001429.4):c.6917A>G (p.(Gln2306Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006110" "0" "50" "22" "41513266" "41513266" "subst" "0" "01804" "EP300_000202" "g.41513266A>G" "" "" "" "EP300(NM_001429.3):c.170A>G (p.(Asn57Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006111" "0" "30" "22" "41513367" "41513367" "subst" "0" "01804" "EP300_000203" "g.41513367C>T" "" "" "" "EP300(NM_001429.3):c.271C>T (p.(Pro91Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006112" "0" "50" "22" "41513656" "41513656" "subst" "0" "01804" "EP300_000204" "g.41513656T>C" "" "" "" "EP300(NM_001429.3):c.560T>C (p.(Met187Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006113" "0" "30" "22" "41521905" "41521905" "subst" "0" "01804" "EP300_000205" "g.41521905C>T" "" "" "" "EP300(NM_001429.3):c.767C>T (p.(Pro256Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006114" "0" "30" "22" "41523536" "41523536" "subst" "3.24942E-5" "01804" "EP300_000206" "g.41523536C>G" "" "" "" "EP300(NM_001429.3):c.952C>G (p.(Pro318Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006115" "0" "30" "22" "41523561" "41523561" "subst" "0" "01804" "EP300_000207" "g.41523561G>C" "" "" "" "EP300(NM_001429.3):c.977G>C (p.(Gly326Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006116" "0" "50" "22" "41527460" "41527460" "subst" "8.12117E-6" "01804" "EP300_000208" "g.41527460C>T" "" "" "" "EP300(NM_001429.3):c.1351C>T (p.(Pro451Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006117" "0" "50" "22" "41527583" "41527583" "subst" "0" "01804" "EP300_000209" "g.41527583C>A" "" "" "" "EP300(NM_001429.3):c.1474C>A (p.(Gln492Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006118" "0" "50" "22" "41527607" "41527607" "subst" "0" "01804" "EP300_000210" "g.41527607C>T" "" "" "" "EP300(NM_001429.3):c.1498C>T (p.(Pro500Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006119" "0" "30" "22" "41533667" "41533667" "subst" "1.21827E-5" "01804" "EP300_000211" "g.41533667A>G" "" "" "" "EP300(NM_001429.3):c.1633A>G (p.(Ser545Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006120" "0" "50" "22" "41533736" "41533736" "subst" "0" "01804" "EP300_000212" "g.41533736C>G" "" "" "" "EP300(NM_001429.3):c.1702C>G (p.(Arg568Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006121" "0" "30" "22" "41533737" "41533737" "subst" "4.06091E-6" "01804" "EP300_000213" "g.41533737G>A" "" "" "" "EP300(NM_001429.3):c.1703G>A (p.(Arg568Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006122" "0" "50" "22" "41537086" "41537086" "subst" "4.06283E-6" "01804" "EP300_000214" "g.41537086A>G" "" "" "" "EP300(NM_001429.3):c.1913A>G (p.(Tyr638Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006123" "0" "30" "22" "41543867" "41543867" "subst" "4.06065E-6" "01804" "EP300_000215" "g.41543867A>G" "" "" "" "EP300(NM_001429.3):c.2158A>G (p.(Met720Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006124" "0" "30" "22" "41545061" "41545061" "subst" "4.0653E-6" "02327" "EP300_000216" "g.41545061G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006125" "0" "50" "22" "41546065" "41546065" "subst" "0" "01804" "EP300_000217" "g.41546065C>A" "" "" "" "EP300(NM_001429.3):c.2680C>A (p.(Pro894Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006126" "0" "30" "22" "41548276" "41548276" "subst" "0" "01804" "EP300_000218" "g.41548276G>A" "" "" "" "EP300(NM_001429.3):c.3064G>A (p.(Glu1022Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006127" "0" "50" "22" "41548287" "41548287" "subst" "0" "01804" "EP300_000219" "g.41548287G>C" "" "" "" "EP300(NM_001429.3):c.3075G>C (p.(Glu1025Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006128" "0" "30" "22" "41550992" "41550995" "del" "0" "01804" "EP300_000220" "g.41550992_41550995del" "" "" "" "EP300(NM_001429.3):c.3143-7_3143-4delTTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006129" "0" "50" "22" "41553181" "41553181" "subst" "0" "01804" "EP300_000221" "g.41553181T>A" "" "" "" "EP300(NM_001429.3):c.3270T>A (p.(Phe1090Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006130" "0" "50" "22" "41553320" "41553320" "subst" "8.12315E-6" "01804" "EP300_000222" "g.41553320C>T" "" "" "" "EP300(NM_001429.3):c.3409C>T (p.(Arg1137Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006131" "0" "30" "22" "41558782" "41558782" "subst" "0" "01804" "EP300_000223" "g.41558782C>G" "" "" "" "EP300(NM_001429.3):c.3727C>G (p.(Leu1243Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006132" "0" "30" "22" "41564477" "41564477" "subst" "0" "01804" "EP300_000224" "g.41564477C>T" "" "" "" "EP300(NM_001429.3):c.3899C>T (p.(Thr1300Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006133" "0" "50" "22" "41564588" "41564588" "subst" "0" "01804" "EP300_000225" "g.41564588C>G" "" "" "" "EP300(NM_001429.3):c.4010C>G (p.(Pro1337Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006134" "0" "50" "22" "41572357" "41572357" "subst" "0" "01804" "EP300_000226" "g.41572357C>T" "" "" "" "EP300(NM_001429.3):c.4886C>T (p.(Ala1629Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006135" "0" "50" "22" "41572807" "41572807" "subst" "0" "01804" "EP300_000227" "g.41572807A>T" "" "" "" "EP300(NM_001429.3):c.5092A>T (p.(Thr1698Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006136" "0" "70" "22" "41572819" "41572819" "subst" "0" "01804" "EP300_000228" "g.41572819G>A" "" "" "" "EP300(NM_001429.3):c.5104G>A (p.(Asp1702Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006137" "0" "50" "22" "41573237" "41573237" "subst" "0" "01804" "EP300_000229" "g.41573237T>C" "" "" "" "EP300(NM_001429.3):c.5522T>C (p.(Val1841Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006138" "0" "50" "22" "41573240" "41573240" "subst" "4.07518E-6" "01804" "EP300_000230" "g.41573240G>C" "" "" "" "EP300(NM_001429.3):c.5525G>C (p.(Gly1842Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006139" "0" "30" "22" "41573359" "41573359" "subst" "4.88389E-5" "01804" "EP300_000231" "g.41573359A>G" "" "" "" "EP300(NM_001429.3):c.5644A>G (p.(Ser1882Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006140" "0" "50" "22" "41573372" "41573372" "subst" "4.07332E-6" "01804" "EP300_000232" "g.41573372A>C" "" "" "" "EP300(NM_001429.3):c.5657A>C (p.(Tyr1886Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006141" "0" "50" "22" "41573663" "41573663" "subst" "0" "01804" "EP300_000233" "g.41573663G>C" "" "" "" "EP300(NM_001429.3):c.5948G>C (p.(Gly1983Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006142" "0" "30" "22" "41573755" "41573755" "subst" "0" "01804" "EP300_000234" "g.41573755G>A" "" "" "" "EP300(NM_001429.3):c.6040G>A (p.(Ala2014Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006143" "0" "30" "22" "41574128" "41574128" "subst" "2.03303E-5" "01804" "EP300_000235" "g.41574128C>T" "" "" "" "EP300(NM_001429.3):c.6413C>T (p.(Ala2138Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006144" "0" "30" "22" "41574295" "41574295" "subst" "0" "01804" "EP300_000236" "g.41574295C>G" "" "" "" "EP300(NM_001429.3):c.6580C>G (p.(Gln2194Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006145" "0" "30" "22" "41574406" "41574406" "subst" "2.03283E-5" "01804" "EP300_000237" "g.41574406A>G" "" "" "" "EP300(NM_001429.3):c.6691A>G (p.(Met2231Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006146" "0" "30" "22" "41574488" "41574488" "subst" "0" "01804" "EP300_000238" "g.41574488A>T" "" "" "" "EP300(NM_001429.3):c.6773A>T (p.(Gln2258Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006147" "0" "50" "22" "41574628" "41574628" "subst" "0" "01804" "EP300_000239" "g.41574628A>C" "" "" "" "EP300(NM_001429.3):c.6913A>C (p.(Asn2305His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006148" "0" "30" "22" "41574682" "41574682" "subst" "1.21835E-5" "01804" "EP300_000240" "g.41574682C>T" "" "" "" "EP300(NM_001429.3):c.6967C>T (p.(Pro2323Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006149" "0" "70" "22" "41574713" "41574713" "subst" "8.12196E-6" "01804" "EP300_000241" "g.41574713C>T" "" "" "" "EP300(NM_001429.3):c.6998C>T (p.(Pro2333Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001018727" "0" "90" "22" "41556731" "41556731" "subst" "0" "00006" "EP300_000242" "g.41556731G>C" "" "{PMID:Pavinato 2024:39603792}" "" "" "" "De novo" "-" "" "0" "" "" "g.41160727G>C" "" "pathogenic (dominant)" "ACMG" "0001018728" "0" "90" "22" "41556731" "41556734" "del" "0" "00006" "EP300_000243" "g.41556731_41556734del" "" "{PMID:Pavinato 2024:39603792}" "" "3671+5_3671+8delGTAA" "" "De novo" "-" "" "0" "" "" "g.41160727_41160730del" "" "pathogenic (dominant)" "ACMG" "0001020085" "0" "70" "22" "41565524" "41565525" "dup" "0" "03544" "EP300_000244" "g.41565524_41565525dup" "" "" "" "" "" "Germline" "yes" "rs1555911201" "0" "" "" "g.41169520_41169521dup" "{CV:504110}" "likely pathogenic" "ACMG" "0001027558" "0" "90" "22" "41513200" "41513203" "del" "0" "00006" "EP300_000245" "g.41513200_41513203del" "" "{PMID:Boissel 2017:29261186}" "" "102_105del" "" "De novo" "" "" "0" "" "" "g.41117196_41117199del" "" "pathogenic (dominant)" "" "0001029465" "0" "90" "22" "41564742" "41564742" "dup" "0" "00006" "EP300_000249" "g.41564742dup" "" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.41168738dup" "" "pathogenic (recessive)" "" "0001029466" "0" "90" "22" "41527568" "41527568" "subst" "0" "00006" "EP300_000246" "g.41527568C>T" "" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.41131564C>T" "" "pathogenic (recessive)" "" "0001029467" "0" "90" "22" "41566507" "41566507" "subst" "0" "00006" "EP300_000250" "g.41566507C>T" "" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41170503C>T" "" "pathogenic (recessive)" "" "0001029468" "0" "90" "22" "41536261" "41536262" "del" "0" "00006" "EP300_000247" "g.41536261_41536262del" "" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.41140257_41140258del" "" "pathogenic (recessive)" "" "0001029474" "0" "90" "22" "41560077" "41560077" "subst" "0" "00006" "EP300_000248" "g.41560077G>A" "" "{PMID:Ismagilova 2025:39958159}, {DOI:Ismagilova 2025:10.3389/fgene.2025.1516565}" "" "" "ACMG PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.41164073G>A" "" "pathogenic (recessive)" "" "0001043885" "0" "30" "22" "41513695" "41513695" "subst" "1.21842E-5" "01804" "EP300_000251" "g.41513695G>A" "" "" "" "EP300(NM_001429.4):c.599G>A (p.(Arg200Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043886" "0" "30" "22" "41533683" "41533683" "subst" "1.62437E-5" "01804" "EP300_000252" "g.41533683T>C" "" "" "" "EP300(NM_001429.4):c.1649T>C (p.(Val550Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043887" "0" "30" "22" "41533720" "41533720" "subst" "0.000259888" "01804" "EP300_000170" "g.41533720A>C" "" "" "" "EP300(NM_001429.3):c.1686A>C (p.P562=), EP300(NM_001429.4):c.1686A>C (p.(Pro562=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043888" "0" "50" "22" "41542805" "41542805" "subst" "8.12341E-6" "01804" "EP300_000253" "g.41542805A>G" "" "" "" "EP300(NM_001429.4):c.2116A>G (p.(Ile706Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043889" "0" "50" "22" "41543856" "41543856" "subst" "0" "02325" "EP300_000254" "g.41543856G>T" "" "" "" "EP300(NM_001429.4):c.2147G>T (p.G716V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043890" "0" "50" "22" "41543954" "41543954" "subst" "0" "01804" "EP300_000255" "g.41543954A>G" "" "" "" "EP300(NM_001429.4):c.2241+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043891" "0" "30" "22" "41545884" "41545884" "subst" "0.00403806" "01804" "EP300_000256" "g.41545884G>A" "" "" "" "EP300(NM_001429.4):c.2499G>A (p.(Ser833=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043892" "0" "30" "22" "41548317" "41548317" "subst" "0.000593621" "01804" "EP300_000164" "g.41548317C>T" "" "" "" "EP300(NM_001429.3):c.3105C>T (p.T1035=), EP300(NM_001429.4):c.3105C>T (p.(Thr1035=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043893" "0" "30" "22" "41565548" "41565548" "subst" "0.000113926" "01804" "EP300_000257" "g.41565548G>A" "" "" "" "EP300(NM_001429.4):c.4214G>A (p.(Arg1405His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043894" "0" "30" "22" "41572541" "41572541" "subst" "0.0260274" "01804" "EP300_000132" "g.41572541C>T" "" "" "" "EP300(NM_001429.4):c.5061+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043895" "0" "30" "22" "41574087" "41574087" "subst" "0.00403088" "01804" "EP300_000258" "g.41574087C>T" "" "" "" "EP300(NM_001429.4):c.6372C>T (p.(Val2124=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043896" "0" "10" "22" "41574132" "41574132" "subst" "0.000378236" "01804" "EP300_000259" "g.41574132C>T" "" "" "" "EP300(NM_001429.4):c.6417C>T (p.(Gly2139=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043897" "0" "50" "22" "41574829" "41574829" "subst" "5.27906E-5" "01804" "EP300_000260" "g.41574829A>G" "" "" "" "EP300(NM_001429.4):c.7114A>G (p.(Met2372Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043898" "0" "30" "22" "41574892" "41574892" "subst" "0.000113718" "01804" "EP300_000261" "g.41574892C>G" "" "" "" "EP300(NM_001429.4):c.7177C>G (p.(Leu2393Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046823" "0" "50" "22" "41531889" "41531889" "subst" "4.06121E-6" "02325" "EP300_000264" "g.41531889A>T" "" "" "" "EP300(NM_001429.4):c.1601A>T (p.H534L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046883" "0" "90" "22" "41564512" "41564512" "subst" "0" "00006" "EP300_000262" "g.41564512C>T" "" "{DOI:Wang 2025:10.3389/fgene.2025.1588657}" "" "" "ACMG PVS1, PM2_Sup, PS2, PS4_Sup" "De novo" "" "" "0" "" "" "g.41168508C>T" "" "pathogenic (dominant)" "ACMG" "0001046884" "0" "90" "22" "41546134" "41546134" "subst" "0" "00006" "EP300_000263" "g.41546134C>T" "" "{DOI:Wang 2025:10.3389/fgene.2025.1588657}" "" "" "ACMG PVS1, PM2_Sup, PS2" "De novo" "" "" "0" "" "" "g.41150130C>T" "" "pathogenic (dominant)" "ACMG" "0001047697" "0" "90" "22" "41513352" "41513352" "subst" "0" "03779" "EP300_000265" "g.41513352C>T" "" "" "" "" "" "Unknown" "" "rs1601598122" "0" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes EP300 ## Count = 271 "{{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}}" "0000000902" "00000166" "30" "2053" "8" "2053" "8" "c.2053+8G>T" "r.(?)" "p.(=)" "10i" "0000000903" "00000166" "30" "729" "330" "729" "330" "c.729+330G>A" "r.(?)" "p.(=)" "2i" "0000000904" "00000166" "30" "7292" "0" "7294" "0" "c.*47_*49del" "r.(?)" "p.(=)" "31" "0000079336" "00000166" "90" "3661" "0" "3661" "0" "c.3661del" "r.(?)" "p.(Gln1221Serfs*6)" "20" "0000079552" "00000166" "90" "4912" "0" "4912" "0" "c.4912dup" "r.(?)" "p.(His1638Profs*35)" "30" "0000079674" "00000166" "90" "5581" "0" "5581" "0" "c.5581C>T" "r.(?)" "p.(Gln1861*)" "31" "0000089197" "00000166" "99" "-787" "0" "94" "1" "c.(?_-787)_(94+1_95-1)del" "r.0?" "p.0?" "_1_1i" "0000089198" "00000166" "99" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Arg648*)" "10" "0000089199" "00000166" "99" "2877" "0" "2884" "0" "c.2877_2884del" "r.(?)" "p.(Thr960Glufs*7)" "15" "0000089200" "00000166" "99" "3625" "0" "3625" "0" "c.3625del" "r.(?)" "p.(Gln1209Lysfs*18)" "20" "0000089201" "00000166" "97" "7100" "0" "7100" "0" "c.7100del" "r.(?)" "p.(Pro2367Argfs*36)" "31" "0000089257" "00000166" "99" "2966" "0" "2966" "0" "c.2966del" "r.(?)" "p.(Pro989Glnfs*31)" "15" "0000089258" "00000166" "99" "718" "0" "718" "0" "c.718dup" "r.(?)" "p.(Gln240Profs*4)" "2" "0000089259" "00000166" "99" "4933" "0" "4933" "0" "c.4933C>T" "r.(?)" "p.(Arg1645*)" "30" "0000089260" "00000166" "99" "1371" "0" "1374" "0" "c.1371_1374del" "r.(?)" "p.(Ser457Argfs*7)" "6" "0000089261" "00000166" "99" "730" "-1" "1760" "1" "c.(729+1_730-1)_(1760+1_1761-1)del" "r.(730_1760del)" "p.?" "2i_8i" "0000089262" "00000166" "99" "638" "0" "638" "0" "c.638del" "r.(?)" "p.(Gly213Glufs*7)" "2" "0000089263" "00000166" "99" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626*)" "9" "0000089264" "00000166" "99" "3875" "-1" "4779" "1" "c.(3874+1_3875-1)_(4779+1_4780-1)del" "r.?" "p.?" "23i_29i" "0000089265" "00000166" "99" "1187" "0" "1189" "0" "c.1187_1189delinsATT" "r.(?)" "p.(Ser396_His2414delinsTyr)" "5" "0000089266" "00000166" "99" "1833" "0" "1833" "0" "c.1833T>G" "r.(?)" "p.(Tyr611*)" "9" "0000089313" "00000166" "99" "4232" "0" "4232" "0" "c.4232C>T" "r.(?)" "p.(Thr1411Ile)" "26" "0000089314" "00000166" "99" "4287" "-1" "4287" "-1" "c.4287-1G>A" "r.spl?" "p.?" "26i" "0000089315" "00000166" "99" "2377" "0" "2377" "0" "c.2377C>T" "r.(?)" "p.(Gln793*)" "13" "0000089316" "00000166" "99" "2437" "0" "2437" "0" "c.2437C>T" "r.(?)" "p.(Gln813*)" "14" "0000089329" "00000166" "99" "3875" "-1" "4452" "1" "c.(3874+1_3875-1)_(4452+1_4453-1)del" "r.?" "p.?" "23i_27i" "0000096186" "00000166" "70" "7222" "0" "7223" "0" "c.7222_7223del" "r.(?)" "p.(Gln2408Glufs*39)" "31" "0000127944" "00000166" "70" "4954" "0" "4957" "0" "c.4954_4957dup" "r.(?)" "p.(Cys1653Tyrfs*21)" "30" "0000127945" "00000166" "70" "3728" "5" "3728" "5" "c.3728+5G>C" "r.3728_3728ins3728+1_3728+4insCins3728+6_3728+22" "p.Phe1244*" "21i" "0000127946" "00000166" "70" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Arg1055*)" "17" "0000127947" "00000166" "70" "6627" "0" "6638" "0" "c.6627_6638del" "r.(?)" "p.(Asn2209_Gln2213delinsLys)" "31" "0000127948" "00000166" "70" "4511" "0" "4511" "0" "c.4511T>G" "r.(?)" "p.(Phe1504Cys)" "28" "0000127949" "00000166" "70" "2132" "-1" "3728" "1" "c.(2131+1_2132-1)_(3728+1_3729-1)del" "r.(2132_3728del)" "p.(Asn713Leufs*32)" "11i_21i" "0000130337" "00000166" "70" "70" "0" "71" "0" "c.70_71del" "r.(?)" "p.(Ser24Glyfs*14)" "1" "0000236267" "00000166" "70" "5492" "0" "5494" "0" "c.5492_5494del" "r.(?)" "p.(Arg1831del)" "31" "0000248807" "00000166" "10" "2989" "0" "2989" "0" "c.2989A>G" "r.(?)" "p.(Ile997Val)" "" "0000249454" "00000166" "30" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Met289Val)" "" "0000249467" "00000166" "30" "5711" "0" "5711" "0" "c.5711A>C" "r.(?)" "p.(Gln1904Pro)" "" "0000254638" "00000166" "30" "3162" "0" "3162" "0" "c.3162A>G" "r.(?)" "p.(Leu1054=)" "" "0000256428" "00000166" "50" "6020" "0" "6020" "0" "c.6020A>G" "r.(?)" "p.(Gln2007Arg)" "" "0000267837" "00000166" "10" "7258" "0" "7260" "0" "c.*13_*15del" "r.(=)" "p.(=)" "" "0000267838" "00000166" "10" "2053" "8" "2053" "8" "c.2053+8G>T" "r.(=)" "p.(=)" "" "0000267839" "00000166" "30" "2131" "18" "2131" "18" "c.2131+18T>A" "r.(=)" "p.(=)" "" "0000267840" "00000166" "10" "3183" "0" "3183" "0" "c.3183T>A" "r.(?)" "p.(Thr1061=)" "" "0000267841" "00000166" "10" "4452" "20" "4452" "20" "c.4452+20C>T" "r.(=)" "p.(=)" "" "0000267842" "00000166" "70" "5417" "0" "5417" "0" "c.5417G>A" "r.(?)" "p.(Cys1806Tyr)" "" "0000268857" "00000166" "90" "3949" "0" "3949" "0" "c.3949G>T" "r.(?)" "p.(Glu1317Ter)" "" "0000276176" "00000166" "30" "2091" "0" "2091" "0" "c.2091T>G" "r.(?)" "p.(Ser697Arg)" "" "0000276177" "00000166" "30" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Ala980Thr)" "" "0000276178" "00000166" "50" "4235" "0" "4235" "0" "c.4235C>T" "r.(?)" "p.(Ala1412Val)" "" "0000329031" "00000166" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Asn49Ser)" "" "0000329034" "00000166" "30" "865" "0" "865" "0" "c.865A>G" "r.(?)" "p.(Met289Val)" "" "0000329035" "00000166" "30" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.(Thr524Met)" "" "0000329037" "00000166" "50" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Ala560Thr)" "" "0000329039" "00000166" "10" "2091" "0" "2091" "0" "c.2091T>G" "r.(?)" "p.(Ser697Arg)" "" "0000329040" "00000166" "50" "2242" "-3" "2242" "-3" "c.2242-3C>A" "r.spl?" "p.?" "" "0000329041" "00000166" "50" "2575" "0" "2575" "0" "c.2575A>G" "r.(?)" "p.(Ile859Val)" "" "0000329042" "00000166" "50" "2746" "0" "2746" "0" "c.2746T>A" "r.(?)" "p.(Ser916Thr)" "" "0000329043" "00000166" "50" "2755" "0" "2764" "0" "c.2755_2764dup" "r.(?)" "p.(Ala922GlufsTer30)" "" "0000329044" "00000166" "30" "4022" "0" "4022" "0" "c.4022C>T" "r.(?)" "p.(Ala1341Val)" "" "0000329045" "00000166" "50" "4400" "0" "4400" "0" "c.4400A>G" "r.(?)" "p.(Tyr1467Cys)" "" "0000329046" "00000166" "30" "4717" "0" "4717" "0" "c.4717A>G" "r.(?)" "p.(Met1573Val)" "" "0000329050" "00000166" "50" "6437" "0" "6437" "0" "c.6437C>A" "r.(?)" "p.(Pro2146His)" "" "0000329051" "00000166" "30" "6627" "0" "6638" "0" "c.6627_6638del" "r.(?)" "p.(Asn2209_Gln2213delinsLys)" "" "0000342188" "00000166" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Ter)" "" "0000342714" "00000166" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353His)" "" "0000343185" "00000166" "90" "1876" "0" "1876" "0" "c.1876C>T" "r.(?)" "p.(Arg626Ter)" "" "0000344921" "00000166" "90" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Gln63Ter)" "" "0000348605" "00000166" "50" "2656" "0" "2656" "0" "c.2656C>A" "r.(?)" "p.(Pro886Thr)" "" "0000499557" "00000166" "90" "5471" "0" "5471" "0" "c.5471A>C" "r.(?)" "p.(Gln1824Pro)" "" "0000499558" "00000166" "90" "5492" "0" "5494" "0" "c.5492_5494del" "r.(?)" "p.(Arg1831del)" "" "0000500606" "00000166" "90" "5973" "0" "5973" "0" "c.5973dup" "r.(?)" "p.(Gln1992Thrfs*81)" "" "0000572118" "00000166" "50" "148" "0" "148" "0" "c.148T>C" "r.(?)" "p.(Ser50Pro)" "" "0000572119" "00000166" "30" "231" "0" "231" "0" "c.231A>G" "r.(?)" "p.(Lys77=)" "" "0000572120" "00000166" "50" "593" "0" "593" "0" "c.593C>T" "r.(?)" "p.(Ala198Val)" "" "0000572121" "00000166" "30" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Gly211Ser)" "" "0000572122" "00000166" "30" "1168" "7" "1168" "7" "c.1168+7G>C" "r.(=)" "p.(=)" "" "0000572123" "00000166" "30" "1285" "0" "1285" "0" "c.1285A>G" "r.(?)" "p.(Ile429Val)" "" "0000572124" "00000166" "30" "1355" "0" "1355" "0" "c.1355A>G" "r.(?)" "p.(Asn452Ser)" "" "0000572125" "00000166" "10" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Ser507Gly)" "" "0000572126" "00000166" "30" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Gly518Glu)" "" "0000572127" "00000166" "30" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.(Thr524Met)" "" "0000572128" "00000166" "50" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Leu527Phe)" "" "0000572129" "00000166" "70" "1810" "0" "1810" "0" "c.1810C>G" "r.(?)" "p.(Arg604Gly)" "" "0000572130" "00000166" "90" "2182" "0" "2182" "0" "c.2182del" "r.(?)" "p.(Arg728GlyfsTer48)" "" "0000572131" "00000166" "30" "2242" "-3" "2242" "-3" "c.2242-3C>A" "r.spl?" "p.?" "" "0000572132" "00000166" "30" "2242" "-3" "2242" "-3" "c.2242-3C>T" "r.spl?" "p.?" "" "0000572133" "00000166" "30" "2351" "0" "2351" "0" "c.2351C>T" "r.(?)" "p.(Pro784Leu)" "" "0000572134" "00000166" "30" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "" "0000572135" "00000166" "30" "2645" "0" "2645" "0" "c.2645C>G" "r.(?)" "p.(Pro882Arg)" "" "0000572137" "00000166" "30" "2773" "0" "2773" "0" "c.2773C>A" "r.(?)" "p.(Pro925Thr)" "" "0000572138" "00000166" "50" "3011" "0" "3011" "0" "c.3011A>T" "r.(?)" "p.(Asp1004Val)" "" "0000572140" "00000166" "30" "3143" "-3" "3143" "-3" "c.3143-3A>T" "r.spl?" "p.?" "" "0000572141" "00000166" "30" "3143" "-2" "3143" "-2" "c.3143-2A>T" "r.spl?" "p.?" "" "0000572142" "00000166" "30" "3143" "-1" "3143" "-1" "c.3143-1G>T" "r.spl?" "p.?" "" "0000572143" "00000166" "90" "3262" "0" "3262" "0" "c.3262del" "r.(?)" "p.(Asp1088IlefsTer6)" "" "0000572144" "00000166" "30" "3352" "0" "3352" "0" "c.3352G>A" "r.(?)" "p.(Val1118Ile)" "" "0000572145" "00000166" "70" "3671" "1" "3671" "1" "c.3671+1G>A" "r.spl?" "p.?" "" "0000572146" "00000166" "70" "3739" "0" "3739" "0" "c.3739T>C" "r.(?)" "p.(Cys1247Arg)" "" "0000572147" "00000166" "50" "3740" "0" "3740" "0" "c.3740G>A" "r.(?)" "p.(Cys1247Tyr)" "" "0000572148" "00000166" "50" "3751" "0" "3751" "0" "c.3751G>A" "r.(?)" "p.(Gly1251Arg)" "" "0000572149" "00000166" "10" "4026" "-17" "4026" "-17" "c.4026-17C>A" "r.(=)" "p.(=)" "" "0000572150" "00000166" "10" "4503" "0" "4503" "0" "c.4503G>A" "r.(?)" "p.(Leu1501=)" "" "0000572151" "00000166" "30" "4599" "0" "4599" "0" "c.4599C>G" "r.(?)" "p.(Thr1533=)" "" "0000572152" "00000166" "10" "4618" "-18" "4618" "-18" "c.4618-18C>T" "r.(=)" "p.(=)" "" "0000572153" "00000166" "70" "4783" "0" "4783" "0" "c.4783T>G" "r.(?)" "p.(Phe1595Val)" "" "0000572154" "00000166" "30" "5147" "0" "5147" "0" "c.5147G>C" "r.(?)" "p.(Ser1716Thr)" "" "0000572155" "00000166" "50" "5245" "0" "5245" "0" "c.5245C>T" "r.(?)" "p.(Arg1749Trp)" "" "0000572156" "00000166" "30" "5406" "0" "5406" "0" "c.5406G>A" "r.(?)" "p.(Pro1802=)" "" "0000572157" "00000166" "50" "5669" "0" "5669" "0" "c.5669C>G" "r.(?)" "p.(Thr1890Ser)" "" "0000572162" "00000166" "30" "6627" "0" "6638" "0" "c.6627_6638del" "r.(?)" "p.(Asn2209_Gln2213delinsLys)" "" "0000572163" "00000166" "10" "6668" "0" "6668" "0" "c.6668A>C" "r.(?)" "p.(Gln2223Pro)" "" "0000618609" "00000166" "50" "1357" "0" "1357" "0" "c.1357C>G" "r.(?)" "p.(Leu453Val)" "" "0000618610" "00000166" "30" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Pro870Leu)" "" "0000618611" "00000166" "30" "3143" "-3" "3143" "-3" "c.3143-3A>T" "r.spl?" "p.?" "" "0000618612" "00000166" "30" "3143" "-2" "3143" "-2" "c.3143-2A>T" "r.spl?" "p.?" "" "0000618613" "00000166" "50" "6970" "0" "6970" "0" "c.6970C>T" "r.(?)" "p.(His2324Tyr)" "" "0000624312" "00000166" "50" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Gly98Asp)" "" "0000624313" "00000166" "30" "1878" "9" "1878" "9" "c.1878+9C>G" "r.(=)" "p.(=)" "" "0000624314" "00000166" "30" "2473" "0" "2473" "0" "c.2473C>T" "r.(?)" "p.(Pro825Ser)" "" "0000624315" "00000166" "30" "3030" "0" "3030" "0" "c.3030C>G" "r.(?)" "p.(Thr1010=)" "" "0000624316" "00000166" "30" "3354" "0" "3354" "0" "c.3354C>T" "r.(?)" "p.(Val1118=)" "" "0000624317" "00000166" "30" "6115" "0" "6115" "0" "c.6115A>G" "r.(?)" "p.(Ser2039Gly)" "" "0000644177" "00000166" "90" "4875" "0" "4875" "0" "c.4875dup" "r.(?)" "p.(Gly1626Trpfs*47)" "" "0000650991" "00000166" "30" "5061" "9" "5061" "9" "c.5061+9C>T" "r.(=)" "p.(=)" "" "0000658967" "00000166" "50" "5861" "0" "5861" "0" "c.5861A>C" "r.(?)" "p.(His1954Pro)" "" "0000658968" "00000166" "30" "6798" "0" "6800" "0" "c.6798_6800del" "r.(?)" "p.(Gln2268del)" "" "0000659727" "00000166" "70" "1163" "0" "1163" "0" "c.1163dup" "r.(?)" "p.(Cys388Trpfs*23)" "" "0000667476" "00000166" "70" "6574" "0" "6585" "0" "c.6574_6585del" "r.(?)" "p.(Gln2192_Gln2195del)" "" "0000669723" "00000166" "30" "5061" "9" "5061" "9" "c.5061+9C>T" "r.(=)" "p.(=)" "" "0000675192" "00000166" "70" "2803" "0" "2803" "0" "c.2803C>T" "r.(?)" "p.(Gln935*)" "" "0000675193" "00000166" "70" "4397" "0" "4397" "0" "c.4397G>A" "r.(?)" "p.(Trp1466*)" "" "0000675194" "00000166" "70" "5603" "0" "5604" "0" "c.5603_5604insAT" "r.(?)" "p.(Pro1869Cysfs*38)" "" "0000681902" "00000166" "30" "2064" "0" "2064" "0" "c.2064A>G" "r.(?)" "p.(Leu688=)" "" "0000681903" "00000166" "30" "2889" "0" "2889" "0" "c.2889T>C" "r.(?)" "p.(Asn963=)" "" "0000681904" "00000166" "50" "6020" "0" "6020" "0" "c.6020A>G" "r.(?)" "p.(Gln2007Arg)" "" "0000681905" "00000166" "30" "6030" "0" "6030" "0" "c.6030G>T" "r.(?)" "p.(Met2010Ile)" "" "0000681906" "00000166" "30" "6636" "0" "6636" "0" "c.6636G>A" "r.(?)" "p.(Gln2212=)" "" "0000682706" "00000166" "70" "3590" "1" "3590" "1" "c.3590+1G>A" "r.spl?" "p.?" "" "0000682728" "00000166" "70" "5692" "0" "5692" "0" "c.5692C>T" "r.(?)" "p.(Gln1898*)" "" "0000682729" "00000166" "70" "729" "1" "729" "1" "c.729+1G>A" "r.spl?" "p.?" "" "0000698324" "00000166" "70" "49" "0" "49" "0" "c.49A>G" "r.(?)" "p.(Lys17Glu)" "1" "0000698325" "00000166" "90" "2221" "0" "2221" "0" "c.2221C>T" "r.(?)" "p.(Gln741* )" "12" "0000698326" "00000166" "90" "2525" "0" "2525" "0" "c.2525del" "r.(?)" "p.(Pro842Leufs* 8)" "14" "0000698375" "00000166" "50" "6911" "0" "6911" "0" "c.6911C>A" "r.(?)" "p.(Ser2304Tyr)" "31" "0000703999" "00000166" "50" "3976" "0" "3976" "0" "c.3976G>A" "r.(?)" "p.(Val1326Ile)" "" "0000712959" "00000166" "90" "3685" "0" "3685" "0" "c.3685G>T" "r.(?)" "p.(Glu1229Ter)" "" "0000728186" "00000166" "50" "3059" "0" "3059" "0" "c.3059A>C" "r.(?)" "p.(Lys1020Thr)" "" "0000728187" "00000166" "30" "3143" "-7" "3143" "-7" "c.3143-7T>G" "r.(=)" "p.(=)" "" "0000728188" "00000166" "70" "3671" "1" "3671" "1" "c.3671+1G>A" "r.spl?" "p.?" "" "0000728189" "00000166" "50" "4616" "0" "4616" "0" "c.4616A>G" "r.(?)" "p.(Asp1539Gly)" "" "0000728190" "00000166" "50" "5813" "0" "5813" "0" "c.5813C>T" "r.(?)" "p.(Thr1938Met)" "" "0000728191" "00000166" "50" "6446" "0" "6446" "0" "c.6446A>G" "r.(?)" "p.(Gln2149Arg)" "" "0000728192" "00000166" "50" "7220" "0" "7220" "0" "c.7220C>G" "r.(?)" "p.(Ser2407*)" "" "0000729928" "00000166" "90" "1092" "0" "1092" "0" "c.1092C>A" "r.(?)" "p.(Cys364*)" "" "0000731121" "00000166" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Ala357Thr)" "" "0000787272" "00000166" "50" "3559" "0" "3559" "0" "c.3559C>T" "r.(?)" "p.(Arg1187Cys)" "19" "0000795474" "00000166" "70" "5047" "0" "5047" "0" "c.5047T>C" "r.(?)" "p.(Cys1683Arg)" "" "0000796596" "00000166" "50" "5192" "0" "5192" "0" "c.5192G>A" "r.(?)" "p.(Arg1731His)" "" "0000809643" "00000166" "30" "316" "0" "316" "0" "c.316A>G" "r.(?)" "p.(Ser106Gly)" "" "0000809644" "00000166" "30" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Pro239Leu)" "" "0000809645" "00000166" "50" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Ser1033Leu)" "" "0000809646" "00000166" "30" "3105" "0" "3105" "0" "c.3105C>T" "r.(?)" "p.(Thr1035=)" "" "0000809647" "00000166" "50" "5227" "0" "5227" "0" "c.5227G>A" "r.(?)" "p.(Val1743Ile)" "" "0000809648" "00000166" "50" "5729" "0" "5729" "0" "c.5729C>T" "r.(?)" "p.(Pro1910Leu)" "" "0000809649" "00000166" "30" "6627" "0" "6638" "0" "c.6627_6638del" "r.(?)" "p.(Asn2209_Gln2213delinsLys)" "" "0000809650" "00000166" "30" "6743" "0" "6743" "0" "c.6743C>T" "r.(?)" "p.(Ala2248Val)" "" "0000809651" "00000166" "50" "6779" "0" "6779" "0" "c.6779A>G" "r.(?)" "p.(Tyr2260Cys)" "" "0000823630" "00000166" "70" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Gln203*)" "" "0000856182" "00000166" "30" "1686" "0" "1686" "0" "c.1686A>C" "r.(?)" "p.(Pro562=)" "" "0000856183" "00000166" "10" "2242" "-4" "2242" "-4" "c.2242-4dup" "r.spl?" "p.?" "" "0000856184" "00000166" "70" "4783" "0" "4783" "0" "c.4783T>G" "r.(?)" "p.(Phe1595Val)" "" "0000856185" "00000166" "30" "5061" "10" "5061" "10" "c.5061+10G>A" "r.(=)" "p.(=)" "" "0000856186" "00000166" "30" "6192" "0" "6192" "0" "c.6192C>A" "r.(?)" "p.(Pro2064=)" "" "0000866866" "00000166" "50" "1751" "0" "1751" "0" "c.1751T>C" "r.(?)" "p.(Val584Ala)" "" "0000866867" "00000166" "50" "6060" "0" "6060" "0" "c.6060G>C" "r.(?)" "p.(Gln2020His)" "" "0000866868" "00000166" "30" "6562" "0" "6562" "0" "c.6562A>G" "r.(?)" "p.(Met2188Val)" "" "0000866869" "00000166" "30" "6798" "0" "6800" "0" "c.6798_6800del" "r.(?)" "p.(Gln2268del)" "" "0000895763" "00000166" "90" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Arg580*)" "" "0000895764" "00000166" "50" "4372" "0" "4372" "0" "c.4372C>A" "r.(?)" "p.(Pro1458Thr)" "" "0000895765" "00000166" "70" "4785" "0" "4785" "0" "c.4785C>G" "r.(?)" "p.(Phe1595Leu)" "" "0000895766" "00000166" "50" "4982" "0" "4982" "0" "c.4982A>G" "r.(?)" "p.(Gln1661Arg)" "" "0000895767" "00000166" "50" "5488" "0" "5488" "0" "c.5488A>G" "r.(?)" "p.(Arg1830Gly)" "" "0000915556" "00000166" "70" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Gln829*)" "" "0000919309" "00000166" "90" "2499" "0" "2499" "0" "c.2499dup" "r.(?)" "p.(Pro834Alafs*4)" "" "0000927184" "00000166" "50" "2006" "0" "2006" "0" "c.2006T>A" "r.(?)" "p.(Met669Lys)" "" "0000927185" "00000166" "50" "6060" "0" "6060" "0" "c.6060G>C" "r.(?)" "p.(Gln2020His)" "" "0000927760" "00000166" "50" "4354" "0" "4354" "0" "c.4354C>A" "r.(?)" "p.(Pro1452Thr)" "" "0000939824" "00000166" "90" "3166" "0" "3166" "0" "c.3166C>T" "r.(?)" "p.(Gln1056Ter)" "17" "0000951616" "00000166" "50" "4004" "0" "4004" "0" "c.4004T>G" "r.(?)" "p.(Val1335Gly)" "" "0000951617" "00000166" "50" "5332" "0" "5332" "0" "c.5332G>T" "r.(?)" "p.(Gly1778Trp)" "" "0000970504" "00000166" "30" "6167" "0" "6167" "0" "c.6167G>A" "r.(?)" "p.(Arg2056Gln)" "" "0000972348" "00000166" "70" "2369" "0" "2370" "0" "c.2369_2370del" "r.(?)" "p.(Pro790ArgfsTer8)" "" "0000984255" "00000166" "50" "1517" "0" "1517" "0" "c.1517T>C" "r.(?)" "p.(Met506Thr)" "" "0000984256" "00000166" "30" "2242" "-4" "2242" "-4" "c.2242-4T>C" "r.spl?" "p.?" "" "0000984257" "00000166" "30" "2997" "10" "2997" "10" "c.2997+10G>A" "r.(=)" "p.(=)" "" "0000984258" "00000166" "90" "3857" "0" "3857" "0" "c.3857A>G" "r.(?)" "p.(Asn1286Ser)" "" "0000984259" "00000166" "30" "5711" "0" "5711" "0" "c.5711A>C" "r.(?)" "p.(Gln1904Pro)" "" "0000984260" "00000166" "50" "6020" "0" "6020" "0" "c.6020A>G" "r.(?)" "p.(Gln2007Arg)" "" "0000984261" "00000166" "30" "6085" "0" "6085" "0" "c.6085C>T" "r.(?)" "p.(Pro2029Ser)" "" "0000984262" "00000166" "30" "6523" "0" "6523" "0" "c.6523A>C" "r.(?)" "p.(Met2175Leu)" "" "0000984263" "00000166" "30" "6611" "0" "6611" "0" "c.6611G>T" "r.(?)" "p.(Gly2204Val)" "" "0000984264" "00000166" "30" "6674" "0" "6676" "0" "c.6674_6676del" "r.(?)" "p.(Gln2225del)" "" "0000984265" "00000166" "30" "6917" "0" "6917" "0" "c.6917A>G" "r.(?)" "p.(Gln2306Arg)" "" "0001006110" "00000166" "50" "170" "0" "170" "0" "c.170A>G" "r.(?)" "p.(Asn57Ser)" "" "0001006111" "00000166" "30" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Pro91Ser)" "" "0001006112" "00000166" "50" "560" "0" "560" "0" "c.560T>C" "r.(?)" "p.(Met187Thr)" "" "0001006113" "00000166" "30" "767" "0" "767" "0" "c.767C>T" "r.(?)" "p.(Pro256Leu)" "" "0001006114" "00000166" "30" "952" "0" "952" "0" "c.952C>G" "r.(?)" "p.(Pro318Ala)" "" "0001006115" "00000166" "30" "977" "0" "977" "0" "c.977G>C" "r.(?)" "p.(Gly326Ala)" "" "0001006116" "00000166" "50" "1351" "0" "1351" "0" "c.1351C>T" "r.(?)" "p.(Pro451Ser)" "" "0001006117" "00000166" "50" "1474" "0" "1474" "0" "c.1474C>A" "r.(?)" "p.(Gln492Lys)" "" "0001006118" "00000166" "50" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Pro500Ser)" "" "0001006119" "00000166" "30" "1633" "0" "1633" "0" "c.1633A>G" "r.(?)" "p.(Ser545Gly)" "" "0001006120" "00000166" "50" "1702" "0" "1702" "0" "c.1702C>G" "r.(?)" "p.(Arg568Gly)" "" "0001006121" "00000166" "30" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568Gln)" "" "0001006122" "00000166" "50" "1913" "0" "1913" "0" "c.1913A>G" "r.(?)" "p.(Tyr638Cys)" "" "0001006123" "00000166" "30" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Met720Val)" "" "0001006124" "00000166" "30" "2261" "0" "2261" "0" "c.2261G>A" "r.(?)" "p.(Arg754His)" "" "0001006125" "00000166" "50" "2680" "0" "2680" "0" "c.2680C>A" "r.(?)" "p.(Pro894Thr)" "" "0001006126" "00000166" "30" "3064" "0" "3064" "0" "c.3064G>A" "r.(?)" "p.(Glu1022Lys)" "" "0001006127" "00000166" "50" "3075" "0" "3075" "0" "c.3075G>C" "r.(?)" "p.(Glu1025Asp)" "" "0001006128" "00000166" "30" "3143" "-7" "3143" "-4" "c.3143-7_3143-4del" "r.spl?" "p.?" "" "0001006129" "00000166" "50" "3270" "0" "3270" "0" "c.3270T>A" "r.(?)" "p.(Phe1090Leu)" "" "0001006130" "00000166" "50" "3409" "0" "3409" "0" "c.3409C>T" "r.(?)" "p.(Arg1137Trp)" "" "0001006131" "00000166" "30" "3727" "0" "3727" "0" "c.3727C>G" "r.(?)" "p.(Leu1243Val)" "" "0001006132" "00000166" "30" "3899" "0" "3899" "0" "c.3899C>T" "r.(?)" "p.(Thr1300Ile)" "" "0001006133" "00000166" "50" "4010" "0" "4010" "0" "c.4010C>G" "r.(?)" "p.(Pro1337Arg)" "" "0001006134" "00000166" "50" "4886" "0" "4886" "0" "c.4886C>T" "r.(?)" "p.(Ala1629Val)" "" "0001006135" "00000166" "50" "5092" "0" "5092" "0" "c.5092A>T" "r.(?)" "p.(Thr1698Ser)" "" "0001006136" "00000166" "70" "5104" "0" "5104" "0" "c.5104G>A" "r.(?)" "p.(Asp1702Asn)" "" "0001006137" "00000166" "50" "5522" "0" "5522" "0" "c.5522T>C" "r.(?)" "p.(Val1841Ala)" "" "0001006138" "00000166" "50" "5525" "0" "5525" "0" "c.5525G>C" "r.(?)" "p.(Gly1842Ala)" "" "0001006139" "00000166" "30" "5644" "0" "5644" "0" "c.5644A>G" "r.(?)" "p.(Ser1882Gly)" "" "0001006140" "00000166" "50" "5657" "0" "5657" "0" "c.5657A>C" "r.(?)" "p.(Tyr1886Ser)" "" "0001006141" "00000166" "50" "5948" "0" "5948" "0" "c.5948G>C" "r.(?)" "p.(Gly1983Ala)" "" "0001006142" "00000166" "30" "6040" "0" "6040" "0" "c.6040G>A" "r.(?)" "p.(Ala2014Thr)" "" "0001006143" "00000166" "30" "6413" "0" "6413" "0" "c.6413C>T" "r.(?)" "p.(Ala2138Val)" "" "0001006144" "00000166" "30" "6580" "0" "6580" "0" "c.6580C>G" "r.(?)" "p.(Gln2194Glu)" "" "0001006145" "00000166" "30" "6691" "0" "6691" "0" "c.6691A>G" "r.(?)" "p.(Met2231Val)" "" "0001006146" "00000166" "30" "6773" "0" "6773" "0" "c.6773A>T" "r.(?)" "p.(Gln2258Leu)" "" "0001006147" "00000166" "50" "6913" "0" "6913" "0" "c.6913A>C" "r.(?)" "p.(Asn2305His)" "" "0001006148" "00000166" "30" "6967" "0" "6967" "0" "c.6967C>T" "r.(?)" "p.(Pro2323Ser)" "" "0001006149" "00000166" "70" "6998" "0" "6998" "0" "c.6998C>T" "r.(?)" "p.(Pro2333Leu)" "" "0001018727" "00000166" "90" "3671" "5" "3671" "5" "c.3671+5G>C" "r.3591_3671del" "p.Arg1197_1224delinsSer" "20i" "0001018728" "00000166" "90" "3671" "5" "3671" "8" "c.3671+5_3671+8del" "r.(3591_3671del)" "p.(Arg1197_1224delinsSer)" "20i" "0001020085" "00000166" "70" "4190" "0" "4191" "0" "c.4190_4191dup" "r.(?)" "p.(Leu1398Thrfs*13)" "26" "0001027558" "00000166" "90" "104" "0" "107" "0" "c.104_107del" "p.G34fs)" "p.(Ser35TyrfsTer12)" "" "0001029465" "00000166" "90" "4043" "0" "4043" "0" "c.4043dup" "r.(?)" "p.(Met1349AspfsTer16)" "" "0001029466" "00000166" "90" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Gln487Ter)" "" "0001029467" "00000166" "90" "4384" "0" "4384" "0" "c.4384C>T" "r.(?)" "p.(Arg1462Ter)" "" "0001029468" "00000166" "90" "1878" "0" "1878" "1" "c.1878_1878+1del" "r.spl" "p.?" "" "0001029474" "00000166" "90" "3749" "0" "3749" "0" "c.3749G>A" "r.(?)" "p.(Cys1250Tyr)" "" "0001043885" "00000166" "30" "599" "0" "599" "0" "c.599G>A" "r.(?)" "p.(Arg200Gln)" "" "0001043886" "00000166" "30" "1649" "0" "1649" "0" "c.1649T>C" "r.(?)" "p.(Val550Ala)" "" "0001043887" "00000166" "30" "1686" "0" "1686" "0" "c.1686A>C" "r.(?)" "p.(Pro562=)" "" "0001043888" "00000166" "50" "2116" "0" "2116" "0" "c.2116A>G" "r.(?)" "p.(Ile706Val)" "" "0001043889" "00000166" "50" "2147" "0" "2147" "0" "c.2147G>T" "r.(?)" "p.(Gly716Val)" "" "0001043890" "00000166" "50" "2241" "4" "2241" "4" "c.2241+4A>G" "r.spl?" "p.?" "" "0001043891" "00000166" "30" "2499" "0" "2499" "0" "c.2499G>A" "r.(?)" "p.(=)" "" "0001043892" "00000166" "30" "3105" "0" "3105" "0" "c.3105C>T" "r.(?)" "p.(Thr1035=)" "" "0001043893" "00000166" "30" "4214" "0" "4214" "0" "c.4214G>A" "r.(?)" "p.(Arg1405His)" "" "0001043894" "00000166" "30" "5061" "9" "5061" "9" "c.5061+9C>T" "r.(=)" "p.(=)" "" "0001043895" "00000166" "30" "6372" "0" "6372" "0" "c.6372C>T" "r.(?)" "p.(=)" "" "0001043896" "00000166" "10" "6417" "0" "6417" "0" "c.6417C>T" "r.(?)" "p.(=)" "" "0001043897" "00000166" "50" "7114" "0" "7114" "0" "c.7114A>G" "r.(?)" "p.(Met2372Val)" "" "0001043898" "00000166" "30" "7177" "0" "7177" "0" "c.7177C>G" "r.(?)" "p.(Leu2393Val)" "" "0001046823" "00000166" "50" "1601" "0" "1601" "0" "c.1601A>T" "r.(?)" "p.(His534Leu)" "" "0001046883" "00000166" "90" "3934" "0" "3934" "0" "c.3934C>T" "r.(?)" "p.(Arg1312*)" "" "0001046884" "00000166" "90" "2749" "0" "2749" "0" "c.2749C>T" "r.(?)" "p.(Gln917*)" "" "0001047697" "00000166" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 73 "{{screeningid}}" "{{variantid}}" "0000000019" "0000000902" "0000000019" "0000000903" "0000000019" "0000000904" "0000050356" "0000079336" "0000050491" "0000079674" "0000050572" "0000079552" "0000058597" "0000089197" "0000058598" "0000089198" "0000058599" "0000089199" "0000058600" "0000089200" "0000058601" "0000089201" "0000058657" "0000089257" "0000058658" "0000089258" "0000058659" "0000089259" "0000058660" "0000089260" "0000058661" "0000089261" "0000058662" "0000089262" "0000058663" "0000089263" "0000058664" "0000089264" "0000058665" "0000089265" "0000058666" "0000089266" "0000058713" "0000089313" "0000058714" "0000089314" "0000058715" "0000089315" "0000058716" "0000089316" "0000058729" "0000089329" "0000064762" "0000096186" "0000079305" "0000127944" "0000079306" "0000127945" "0000079307" "0000127946" "0000079308" "0000127947" "0000079309" "0000127948" "0000079310" "0000127949" "0000081246" "0000130337" "0000145190" "0000236267" "0000246771" "0000499557" "0000246772" "0000499558" "0000247737" "0000500606" "0000288264" "0000644177" "0000294302" "0000650991" "0000297111" "0000659727" "0000304078" "0000667476" "0000306035" "0000669723" "0000308283" "0000675192" "0000308283" "0000675193" "0000308283" "0000675194" "0000308398" "0000682706" "0000308399" "0000682728" "0000308399" "0000682729" "0000316174" "0000698324" "0000316175" "0000698325" "0000316176" "0000698326" "0000316225" "0000698375" "0000328838" "0000712959" "0000332646" "0000729928" "0000333470" "0000731121" "0000375921" "0000787272" "0000382752" "0000796596" "0000393044" "0000823630" "0000433678" "0000919309" "0000436667" "0000927760" "0000441882" "0000939824" "0000459799" "0001018727" "0000459800" "0001018728" "0000461031" "0001020085" "0000463938" "0001027558" "0000465767" "0001029465" "0000465768" "0001029466" "0000465769" "0001029467" "0000465770" "0001029468" "0000465776" "0001029474" "0000467684" "0001046883" "0000467685" "0001046884"