### LOVD-version 3000-300 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EYA1) # 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}}" "EYA1" "eyes absent homolog 1 (Drosophila)" "8" "q13.3" "unknown" "NG_011735.3" "UD_132118628159" "" "https://www.LOVD.nl/EYA1" "" "1" "3519" "2138" "601653" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/EYA1_NM_000503.4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-23 09:54:51" "00000" "2024-04-19 20:27:30" ## 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}}" "00025538" "EYA1" "transcript variant 3" "003" "NM_000503.4" "" "NP_000494.2" "" "" "" "-640" "3686" "1779" "72274467" "72109668" "00006" "2020-07-23 09:23:30" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "2016-10-22 17:54:40" "00472" "OAS" "oculo-auricular syndrome (OAS)" "" "612109" "" "" "" "00006" "2014-07-24 08:43:38" "00006" "2015-12-07 07:11:25" "00655" "BOR1" "branchiootorenal syndrome, with/without cataract, type 1 (BOR-1)" "AD" "113650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00656" "BOS1" "branchiootic syndrome, type 1 (BOS-1)" "AD" "602588" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00657" "OTFCS" "otofaciocervical syndrome (OTFCS)" "AD" "166780" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06893" "BOR" "branchiootorenal syndrome" "" "" "" "" "" "00006" "2022-01-23 13:57:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "EYA1" "00139" "EYA1" "00655" "EYA1" "00656" "EYA1" "00657" ## Individuals ## Do not remove or alter this header ## ## Count = 182 "{{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}}" "00003004" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00003007" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00132979" "" "" "" "2" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "2-genertion family, heterozygous carrier father" "M" "" "" "" "0" "" "" "" "29100090-FamDC1" "00164339" "" "" "" "5" "" "02476" "" "" "F" "no" "Argentina" "" "0" "" "" "" "" "00283745" "" "" "" "1" "" "00004" "{PMID:Rickard 2000:10991693}" "" "" "" "" "" "0" "" "" "" "" "00283746" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283747" "" "" "" "1" "" "00004" "{PMID:Sanggaard 2007:17637804}" "" "" "" "" "" "0" "" "" "" "" "00283748" "" "" "" "1" "" "00004" "{PMID:Matsunaga 2007:17364338}" "" "" "" "" "" "0" "" "" "" "" "00283749" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283750" "" "" "" "1" "" "00004" "{PMID:Rickard 2000:10991693}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283751" "" "" "" "1" "" "00004" "{PMID:Wang 2012:22447252}" "" "" "" "" "" "0" "" "" "" "" "00283752" "" "" "" "1" "" "00004" "{PMID:Hwang 2014:24429398}" "" "" "" "" "" "0" "" "" "" "" "00283753" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283754" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283755" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9361030}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283756" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283757" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283758" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283759" "" "" "" "1" "" "00004" "{PMID:Kumar 1998:9603436}, {PMID:Rowley 1969:5365063}, {PMID:Smith 1993:20301554} 3," "" "" "" "" "" "0" "" "" "" "" "00283760" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283761" "" "" "" "1" "" "00004" "{PMID:Kumar 1998:9603436}" "" "" "" "" "" "0" "" "" "" "" "00283762" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9020840}" "" "" "" "" "" "0" "" "" "" "" "00283763" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283764" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283765" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283766" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283767" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283768" "" "" "" "1" "" "00004" "{PMID:Azuma 2000:10655545}, {PMID:Buller 2001:11734542}" "" "" "" "" "" "0" "" "" "" "" "00283769" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283770" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283771" "" "" "" "1" "" "00004" "{PMID:Kumar 1998:9603436}" "" "" "" "" "" "0" "" "" "" "" "00283772" "" "" "" "1" "" "00004" "{PMID:Okada 2006:16491411}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283773" "" "" "" "1" "" "00004" "{PMID:Song 2013:23840632}" "" "" "" "" "" "0" "" "" "" "" "00283774" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9020840}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283775" "" "" "" "1" "" "00004" "{PMID:Castiglione 2014:24803398}" "" "" "" "" "" "0" "" "" "" "" "00283776" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283777" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283778" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}, {PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283779" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283780" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283781" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283782" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283783" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283784" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283785" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Abdelhak 1997:9361030}, {PMID:Buller 2001:11734542}" "" "" "" "" "" "0" "" "" "" "" "00283786" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283787" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Shimasaki 2004:15493068}" "" "" "" "" "" "0" "" "" "" "" "00283788" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283789" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}" "" "" "" "" "" "0" "" "" "" "" "00283790" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283791" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283792" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283793" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Gigante 2013:23506628}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283794" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283795" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283796" "" "" "" "1" "" "00004" "{PMID:Kim 2005:16005355}" "" "" "" "" "" "0" "" "" "" "" "00283797" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9020840}, {PMID:Rickard 2000:10991693}" "" "" "" "" "" "0" "" "" "" "" "00283798" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Abdelhak 1997:9361030}, {PMID:Buller 2001:11734542}" "" "" "" "" "" "0" "" "" "" "" "00283799" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9020840}" "" "" "" "" "" "0" "" "" "" "" "00283800" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283801" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283802" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283803" "" "" "" "1" "" "00004" "" "" "" "" "" "" "0" "" "" "" "" "00283804" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283805" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283806" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}" "" "" "" "" "" "0" "" "" "" "" "00283807" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283808" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9020840}, {PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283809" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283810" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}" "" "" "" "" "" "0" "" "" "" "" "00283811" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}, {PMID:Krug 2011:21280147}, {PMID:Smith 1993:20301554}, {PMID:Li 2010:19951260}, {PMID:Orten 2008:18220287}, {PMID:Duzkale 2013:24033266}, {PMID:Kumar 1997-1998:10464653}" "" "" "" "" "" "0" "" "" "" "" "00283812" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283813" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283814" "" "" "" "1" "" "00004" "{PMID:Namba 2001:11558900}, {PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00283815" "" "" "" "1" "" "00004" "{PMID:Weber 2006:16971658}" "" "" "" "" "" "0" "" "" "" "" "00283816" "" "" "" "1" "" "00004" "{PMID:Azuma 2000:10655545}, {PMID:Buller 2001:11734542}" "" "" "" "" "" "0" "" "" "" "" "00283817" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283818" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}" "" "" "" "" "" "0" "" "" "" "" "00283819" "" "" "" "1" "" "00004" "{PMID:Okada 2006:16491411}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283820" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283821" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283822" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283823" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283824" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283825" "" "" "" "1" "" "00004" "{PMID:Sanggaard 2007:17637804}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283826" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283827" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283828" "" "" "" "1" "" "00004" "{PMID:Song 2013:23840632}" "" "" "" "" "" "0" "" "" "" "" "00283829" "" "" "" "1" "" "00004" "{PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283830" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283831" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283832" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283833" "" "" "" "1" "" "00004" "{PMID:Febbo 2011:22138009}, {PMID:Hampel 2015:25394175}, {PMID:Sturgeon 2008:19042984}, {PMID:Carter 2013:23659877}, {PMID:Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014:24071797}, {PMID:Lindberg 2013:23265383}" "" "" "" "" "" "0" "" "" "" "" "00283834" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283835" "" "" "" "1" "" "00004" "{PMID:Azuma 2000:10655545}, {PMID:Buller 2001:11734542}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283836" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Spruijt 2006:16691597}, {PMID:Olavarrieta 2008:18177466}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283837" "" "" "" "1" "" "00004" "{PMID:Okada 2006:16491411}, {PMID:Fu 2011:21288883}, {PMID:Grodecká 2014:24586880}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283838" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283839" "" "" "" "1" "" "00004" "{PMID:Okada 2006:16491411}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283840" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283841" "" "" "" "1" "" "00004" "{PMID:Henriksen 2004:15684871}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283842" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283843" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283844" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283845" "" "" "" "1" "" "00004" "{PMID:Vervoort 2002:12404110}" "" "" "" "" "" "0" "" "" "" "" "00283846" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283847" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283848" "" "" "" "1" "" "00004" "{PMID:Vincent 1997:9359046}" "" "" "" "" "" "0" "" "" "" "" "00283849" "" "" "" "1" "" "00004" "{PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283850" "" "" "" "1" "" "00004" "{PMID:Kwon 2009:18763178}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283851" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283852" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Stockley 2009:19206155}, {PMID:Krug 2011:21280147}, {PMID:Song 2013:23840632}" "" "" "" "" "" "0" "" "" "" "" "00283853" "" "" "" "1" "" "00004" "{PMID:Hwang 2014:24429398}" "" "" "" "" "" "0" "" "" "" "" "00283854" "" "" "" "1" "" "00004" "{PMID:Song 2013:23840632}" "" "" "" "" "" "0" "" "" "" "" "00283855" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9020840}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283856" "" "" "" "1" "" "00004" "{PMID:Sanggaard 2007:17637804}" "" "" "" "" "" "0" "" "" "" "" "00283857" "" "" "" "1" "" "00004" "{PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283858" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283859" "" "" "" "1" "" "00004" "{PMID:Kumar 1998:9603436}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283860" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283861" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283862" "" "" "" "1" "" "00004" "{PMID:Classen 2013:23552953}" "" "" "" "" "" "0" "" "" "" "" "00283863" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283864" "" "" "" "1" "" "00004" "{PMID:Abdelhak 1997:9020840}" "" "" "" "" "" "0" "" "" "" "" "00283865" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283866" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283867" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283868" "" "" "" "1" "" "00004" "{PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283869" "" "" "" "1" "" "00004" "{PMID:Clarke 2006:16813606}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283870" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283871" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283872" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283873" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283874" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283875" "" "" "" "1" "" "00004" "{PMID:Yashima 2003:12701758}" "" "" "" "" "" "0" "" "" "" "" "00283876" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283877" "" "" "" "1" "" "00004" "{PMID:Usami 1999:10429368}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283878" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00283879" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283880" "" "" "" "1" "" "00004" "{PMID:Hoskins 2008:18065799}" "" "" "" "" "" "0" "" "" "" "" "00283881" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283882" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283883" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283884" "" "" "" "1" "" "00004" "{PMID:Estefanía 2006:16441263}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283885" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283886" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283887" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283888" "" "" "" "1" "" "00004" "{PMID:Uno 2004:15491396}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283889" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283890" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283891" "" "" "" "1" "" "00004" "{PMID:Chang 2004:15146463}" "" "" "" "" "" "0" "" "" "" "" "00283892" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283893" "" "" "" "1" "" "00004" "{PMID:Okada 2006:16491411}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283894" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}" "" "" "" "" "" "0" "" "" "" "" "00283895" "" "" "" "1" "" "00004" "{PMID:Stockley 2009:19206155}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283896" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283897" "" "" "" "1" "" "00004" "{PMID:Lee 2007:17049623}, {PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283898" "" "" "" "1" "" "00004" "{PMID:Rickard 2000:10991693}" "" "" "" "" "" "0" "" "" "" "" "00283899" "" "" "" "1" "" "00004" "{PMID:Wang 2012:22447252}" "" "" "" "" "" "0" "" "" "" "" "00283900" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283901" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283902" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}, {PMID:Kim 2014:24590738}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283903" "" "" "" "1" "" "00004" "{PMID:Vincent 1997:9359046}" "" "" "" "" "" "0" "" "" "" "" "00283904" "" "" "" "1" "" "00004" "{PMID:Miyagawa 2013:23967202}" "" "" "" "" "" "0" "" "" "" "" "00283905" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283906" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283907" "" "" "" "1" "" "00004" "{PMID:Lee 2009:19667416}" "" "" "" "" "" "0" "" "" "" "" "00283908" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283909" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "" "" "0" "" "" "" "" "00283910" "" "" "" "1" "" "00004" "{PMID:Orten 2008:18220287}" "" "" "" "" "" "0" "" "" "" "" "00283912" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283913" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00294660" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294661" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294662" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294663" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305203" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306226" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "133" "00306912" "" "" "" "1" "" "03388" "{PMID:Razmara 2018:29511501}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "" "Iran" "" "0" "" "" "" "YK1132" "00408827" "" "" "" "1" "" "04221" "{PMID:Estandia-Ortega 2022:36362878}" "1 patient" "M" "no" "Mexico" "" "0" "" "none" "" "EFAV_144" "00428327" "" "" "" "9" "" "04147" "{PMID:Yalcouye 2022:35698919}" "3-generation family, 9 affected (5F, 4M)" "M" "no" "Mali" ">54y" "0" "" "" "Africa" "FamPatII4" "00448506" "" "" "" "1" "" "04656" "" "" "M" "yes" "Pakistan" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 171 "{{individualid}}" "{{diseaseid}}" "00003004" "00198" "00003007" "00198" "00132979" "05342" "00164339" "00655" "00283745" "00198" "00283746" "00198" "00283747" "00198" "00283748" "00198" "00283749" "00198" "00283750" "00198" "00283751" "00198" "00283752" "00198" "00283753" "00198" "00283754" "00198" "00283755" "00198" "00283756" "00198" "00283757" "00198" "00283758" "00198" "00283759" "00198" "00283760" "00198" "00283761" "00198" "00283762" "00198" "00283763" "00198" "00283764" "00198" "00283765" "00198" "00283766" "00198" "00283767" "00198" "00283768" "00198" "00283769" "00198" "00283770" "00198" "00283771" "00198" "00283772" "00198" "00283773" "00198" "00283774" "00198" "00283775" "00198" "00283776" "00198" "00283777" "00198" "00283778" "00198" "00283779" "00198" "00283780" "00198" "00283781" "00198" "00283782" "00198" "00283783" "00198" "00283784" "00198" "00283785" "00198" "00283786" "00198" "00283787" "00198" "00283788" "00198" "00283789" "00198" "00283790" "00198" "00283791" "00198" "00283792" "00198" "00283793" "00198" "00283794" "00198" "00283795" "00198" "00283796" "00198" "00283797" "00198" "00283798" "00198" "00283799" "00198" "00283801" "00198" "00283803" "00198" "00283804" "00198" "00283805" "00198" "00283806" "00198" "00283808" "00198" "00283809" "00198" "00283810" "00198" "00283811" "00198" "00283812" "00198" "00283814" "00198" "00283815" "00198" "00283816" "00198" "00283817" "00198" "00283818" "00198" "00283819" "00198" "00283821" "00198" "00283824" "00198" "00283825" "00198" "00283826" "00198" "00283827" "00198" "00283828" "00198" "00283829" "00198" "00283830" "00198" "00283831" "00198" "00283832" "00198" "00283833" "00198" "00283834" "00198" "00283835" "00198" "00283836" "00198" "00283837" "00198" "00283838" "00198" "00283839" "00198" "00283840" "00198" "00283841" "00198" "00283842" "00198" "00283843" "00198" "00283844" "00198" "00283845" "00198" "00283846" "00198" "00283847" "00198" "00283848" "00198" "00283849" "00198" "00283850" "00198" "00283851" "00198" "00283852" "00198" "00283853" "00198" "00283854" "00198" "00283855" "00198" "00283856" "00198" "00283857" "00198" "00283858" "00198" "00283859" "00198" "00283860" "00198" "00283861" "00198" "00283862" "00198" "00283863" "00198" "00283864" "00198" "00283865" "00198" "00283866" "00198" "00283868" "00198" "00283869" "00198" "00283870" "00198" "00283871" "00198" "00283872" "00198" "00283873" "00198" "00283874" "00198" "00283875" "00198" "00283876" "00198" "00283877" "00198" "00283878" "05103" "00283879" "00198" "00283880" "00198" "00283881" "00198" "00283882" "00198" "00283883" "00198" "00283884" "00198" "00283885" "00198" "00283886" "00198" "00283887" "00198" "00283888" "00198" "00283889" "00198" "00283890" "00198" "00283891" "00198" "00283892" "00198" "00283893" "00198" "00283894" "00198" "00283895" "00198" "00283896" "00198" "00283897" "00198" "00283898" "00198" "00283899" "00198" "00283900" "00198" "00283901" "00198" "00283902" "00198" "00283903" "00198" "00283904" "05103" "00283905" "00198" "00283906" "00198" "00283907" "00198" "00283909" "00198" "00283910" "00198" "00294660" "00198" "00294661" "00198" "00294662" "00198" "00294663" "00198" "00305203" "00198" "00306226" "00656" "00306912" "05086" "00408827" "00472" "00428327" "06893" "00448506" "06877" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00472, 00655, 00656, 00657, 05086, 05103, 05342, 06877, 06893 ## Count = 166 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001855" "00198" "00003004" "00130" "Isolated (sporadic)" "" "progressive midfreq bilateral hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000001858" "00198" "00003007" "00130" "Familial, autosomal dominant" "" "high frequency hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000105740" "05342" "00132979" "00006" "Familial" "" "CAKUT, renal hypoplasia bilateral; branchio-oto-renal syndrome features" "" "" "" "" "" "" "" "" "" "" "" "0000129444" "00655" "00164339" "02476" "Familial, autosomal dominant" "" "Hearing loss, fistulae, cleft palate, renal agenesis/hypoplasia" "" "" "" "" "" "" "" "" "BOR1" "" "" "0000216747" "00198" "00283745" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216748" "00198" "00283746" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216749" "00198" "00283747" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216750" "00198" "00283748" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216751" "00198" "00283749" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216752" "00198" "00283750" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216753" "00198" "00283751" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216754" "00198" "00283752" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Congenital anomalies of the kidney and urinary tract" "" "0000216755" "00198" "00283753" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216756" "00198" "00283754" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216757" "00198" "00283755" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216758" "00198" "00283756" "00008" "Unknown" "" "branchiootorenal syndrome 1" "" "" "" "" "" "" "" "" "" "Melnick-Fraser syndrome" "" "0000216759" "00198" "00283757" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216760" "00198" "00283758" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Melnick-Fraser syndrome" "" "0000216761" "00198" "00283759" "00008" "Unknown" "" "branchiootorenal syndrome 1" "" "" "" "" "" "" "" "" "" "Melnick-Fraser syndrome" "" "0000216762" "00198" "00283760" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216763" "00198" "00283761" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216764" "00198" "00283762" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216765" "00198" "00283763" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216766" "00198" "00283764" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216767" "00198" "00283765" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216768" "00198" "00283766" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216769" "00198" "00283767" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216770" "00198" "00283768" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Peters\' anomaly with cataracts" "" "0000216771" "00198" "00283769" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216772" "00198" "00283770" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216773" "00198" "00283771" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216774" "00198" "00283772" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216775" "00198" "00283773" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216776" "00198" "00283774" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216777" "00198" "00283775" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216778" "00198" "00283776" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216779" "00198" "00283777" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216780" "00198" "00283778" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216781" "00198" "00283779" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216782" "00198" "00283780" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216783" "00198" "00283781" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216784" "00198" "00283782" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216785" "00198" "00283783" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216786" "00198" "00283784" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216787" "00198" "00283785" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216788" "00198" "00283786" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216789" "00198" "00283787" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cayler\'s cardiofacial syndrome" "" "0000216790" "00198" "00283788" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216791" "00198" "00283789" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216792" "00198" "00283790" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216793" "00198" "00283791" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216794" "00198" "00283792" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "BOR syndrome, dominant" "" "0000216795" "00198" "00283793" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216796" "00198" "00283794" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216797" "00198" "00283795" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216798" "00198" "00283796" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216799" "00198" "00283797" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216800" "00198" "00283798" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216801" "00198" "00283799" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216802" "00198" "00283801" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216803" "00198" "00283803" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1" "BOR syndrome" "" "0000216804" "00198" "00283804" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216805" "00198" "00283805" "00008" "Unknown" "" "branchiootorenal syndrome 1" "" "" "" "" "" "" "" "" "" "Melnick-Fraser syndrome" "" "0000216806" "00198" "00283806" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216807" "00198" "00283808" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216808" "00198" "00283809" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216809" "00198" "00283810" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216810" "00198" "00283811" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216811" "00198" "00283812" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216812" "00198" "00283814" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216813" "00198" "00283815" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Renal hypodysplasia" "" "0000216814" "00198" "00283816" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216815" "00198" "00283817" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216816" "00198" "00283818" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216817" "00198" "00283819" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216818" "00198" "00283821" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216819" "00198" "00283824" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216820" "00198" "00283825" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216821" "00198" "00283826" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216822" "00198" "00283827" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216823" "00198" "00283828" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216824" "00198" "00283829" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216825" "00198" "00283830" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216826" "00198" "00283831" "00008" "Unknown" "" "branchiootorenal syndrome 1" "" "" "" "" "" "" "" "" "" "Melnick-Fraser syndrome" "" "0000216827" "00198" "00283832" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216828" "00198" "00283833" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Malignant tumor of prostate" "" "0000216829" "00198" "00283834" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216830" "00198" "00283835" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Iris anomaly" "" "0000216831" "00198" "00283836" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216832" "00198" "00283837" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216833" "00198" "00283838" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216834" "00198" "00283839" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216835" "00198" "00283840" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216836" "00198" "00283841" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216837" "00198" "00283842" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216838" "00198" "00283843" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216839" "00198" "00283844" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216840" "00198" "00283845" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216841" "00198" "00283846" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216842" "00198" "00283847" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216843" "00198" "00283848" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome" "" "0000216844" "00198" "00283849" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216845" "00198" "00283850" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome" "" "0000216846" "00198" "00283851" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216847" "00198" "00283852" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216848" "00198" "00283853" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Congenital anomalies of the kidney and urinary tract" "" "0000216849" "00198" "00283854" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216850" "00198" "00283855" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216851" "00198" "00283856" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216852" "00198" "00283857" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216853" "00198" "00283858" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216854" "00198" "00283859" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216855" "00198" "00283860" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216856" "00198" "00283861" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216857" "00198" "00283862" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Renal malformation" "" "0000216858" "00198" "00283863" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216859" "00198" "00283864" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216860" "00198" "00283865" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216861" "00198" "00283866" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216862" "00198" "00283868" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216863" "00198" "00283869" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216864" "00198" "00283870" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216865" "00198" "00283871" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216866" "00198" "00283872" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216867" "00198" "00283873" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216868" "00198" "00283874" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216869" "00198" "00283875" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome" "" "0000216870" "00198" "00283876" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216871" "00198" "00283877" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216872" "00198" "00283879" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216873" "00198" "00283880" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Ureteropelvic junction obstruction and reduced renal function" "" "0000216874" "00198" "00283881" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216875" "00198" "00283882" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216876" "00198" "00283883" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216877" "00198" "00283884" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Oto-facio-cervical syndrome" "" "0000216878" "00198" "00283885" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216879" "00198" "00283886" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216880" "00198" "00283887" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216881" "00198" "00283888" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216882" "00198" "00283889" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216883" "00198" "00283890" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216884" "00198" "00283891" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216885" "00198" "00283892" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216886" "00198" "00283893" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216887" "00198" "00283894" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216888" "00198" "00283895" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216889" "00198" "00283896" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216890" "00198" "00283897" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216891" "00198" "00283898" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216892" "00198" "00283899" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216893" "00198" "00283900" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216894" "00198" "00283901" "00008" "Unknown" "" "branchiootorenal syndrome 1" "" "" "" "" "" "" "" "" "" "Melnick-Fraser syndrome" "" "0000216895" "00198" "00283902" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216896" "00198" "00283903" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome" "" "0000216897" "00198" "00283905" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216898" "00198" "00283906" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216899" "00198" "00283907" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216900" "00198" "00283909" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216901" "00198" "00283910" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Renal hypodysplasia" "" "0000218470" "05103" "00283878" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000218471" "05103" "00283904" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness" "" "0000232074" "00656" "00306226" "03695" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232735" "05086" "00306912" "03388" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000300951" "00472" "00408827" "04221" "Unknown" "06y" "Microtia (HPO:0008551), atresia of the external auditory canal (HPO:0000413), conductive hearing impairment (HPO:0000405), ossicular chain abnormality (HPO:004452), hemifacial hypoplasia (HPO:0011332)." "" "" "" "EYA1" "" "" "" "" "OAVS" "Microtia" "" "0000319235" "06893" "00428327" "04147" "Familial, autosomal dominant" "" "see paper; ..., post lingual hearing impairment (HP:0008596) 5/9; conductive hearing impairment (HP:0000405) 1/9, branchial fistula (HP:0009795) 7/9, preauricular sinus (HP:0004467) 7/9, preauricular skin tag (HP:0000384) 1/9, normal renal function (-HP:0012211)" "" "08y" "" "" "" "" "" "" "BOR1" "branchiootorenal syndrome" "" "0000337687" "06877" "00448506" "04656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Severe hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 182 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002910" "00003004" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000002913" "00003007" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000133813" "00132979" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000165205" "00164339" "1" "02476" "02476" "2018-05-14 16:44:49" "" "" "SEQ" "DNA" "Blood" "Previously linkage analysis for SIX1 and Eya1 genes." "0000284895" "00283745" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284896" "00283746" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284897" "00283747" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284898" "00283748" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284899" "00283749" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284900" "00283750" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284901" "00283751" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284902" "00283752" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284903" "00283753" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284904" "00283754" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284905" "00283755" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284906" "00283756" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284907" "00283757" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284908" "00283758" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284909" "00283759" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284910" "00283760" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284911" "00283761" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284912" "00283762" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284913" "00283763" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284914" "00283764" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284915" "00283765" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284916" "00283766" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284917" "00283767" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284918" "00283768" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284919" "00283769" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284920" "00283770" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284921" "00283771" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284922" "00283772" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284923" "00283773" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284924" "00283774" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284925" "00283775" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284926" "00283776" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284927" "00283777" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284928" "00283778" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284929" "00283779" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284930" "00283780" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284931" "00283781" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284932" "00283782" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284933" "00283783" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284934" "00283784" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284935" "00283785" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284936" "00283786" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284937" "00283787" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284938" "00283788" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284939" "00283789" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284940" "00283790" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284941" "00283791" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284942" "00283792" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284943" "00283793" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284944" "00283794" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284945" "00283795" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284946" "00283796" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284947" "00283797" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284948" "00283798" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284949" "00283799" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284950" "00283800" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284951" "00283801" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284952" "00283802" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284953" "00283803" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284954" "00283804" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284955" "00283805" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284956" "00283806" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284957" "00283807" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284958" "00283808" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284959" "00283809" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284960" "00283810" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284961" "00283811" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284962" "00283812" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284963" "00283813" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284964" "00283814" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284965" "00283815" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284966" "00283816" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284967" "00283817" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284968" "00283818" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284969" "00283819" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284970" "00283820" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284971" "00283821" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284972" "00283822" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284973" "00283823" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284974" "00283824" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284975" "00283825" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284976" "00283826" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284977" "00283827" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284978" "00283828" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284979" "00283829" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284980" "00283830" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284981" "00283831" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284982" "00283832" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284983" "00283833" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284984" "00283834" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284985" "00283835" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284986" "00283836" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284987" "00283837" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284988" "00283838" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284989" "00283839" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284990" "00283840" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284991" "00283841" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284992" "00283842" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284993" "00283843" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284994" "00283844" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284995" "00283845" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284996" "00283846" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284997" "00283847" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284998" "00283848" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284999" "00283849" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285000" "00283850" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285001" "00283851" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285002" "00283852" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285003" "00283853" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285004" "00283854" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285005" "00283855" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285006" "00283856" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285007" "00283857" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285008" "00283858" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285009" "00283859" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285010" "00283860" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285011" "00283861" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285012" "00283862" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285013" "00283863" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285014" "00283864" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285015" "00283865" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285016" "00283866" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285017" "00283867" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285018" "00283868" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285019" "00283869" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285020" "00283870" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285021" "00283871" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285022" "00283872" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285023" "00283873" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285024" "00283874" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285025" "00283875" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285026" "00283876" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285027" "00283877" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285028" "00283878" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285029" "00283879" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285030" "00283880" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285031" "00283881" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285032" "00283882" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285033" "00283883" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285034" "00283884" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285035" "00283885" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285036" "00283886" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285037" "00283887" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285038" "00283888" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285039" "00283889" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285040" "00283890" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285041" "00283891" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285042" "00283892" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285043" "00283893" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285044" "00283894" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285045" "00283895" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285046" "00283896" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285047" "00283897" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285048" "00283898" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285049" "00283899" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285050" "00283900" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285051" "00283901" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285052" "00283902" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285053" "00283903" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285054" "00283904" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285055" "00283905" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285056" "00283906" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285057" "00283907" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285058" "00283908" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285059" "00283909" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285060" "00283910" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285062" "00283912" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285063" "00283913" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000295828" "00294660" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295829" "00294661" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295830" "00294662" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295831" "00294663" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306332" "00305203" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307359" "00306226" "1" "03695" "03695" "2020-07-11 10:36:58" "" "" "SEQ-NG" "DNA" "" "" "0000308049" "00306912" "1" "00006" "00006" "2020-07-23 09:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000410097" "00408827" "1" "04221" "04221" "2022-04-28 19:53:38" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "gene-panel sequencing" "0000429739" "00428327" "1" "04147" "04147" "2023-01-01 03:07:58" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000450087" "00448506" "1" "04656" "04656" "2024-03-18 08:36:36" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 180 "{{screeningid}}" "{{geneid}}" "0000002910" "EYA1" "0000002913" "EYA1" "0000133813" "EYA1" "0000165205" "EYA1" "0000284895" "EYA1" "0000284896" "EYA1" "0000284897" "EYA1" "0000284898" "EYA1" "0000284899" "EYA1" "0000284900" "EYA1" "0000284901" "EYA1" "0000284902" "EYA1" "0000284903" "EYA1" "0000284904" "EYA1" "0000284905" "EYA1" "0000284906" "EYA1" "0000284907" "EYA1" "0000284908" "EYA1" "0000284909" "EYA1" "0000284910" "EYA1" "0000284911" "EYA1" "0000284912" "EYA1" "0000284913" "EYA1" "0000284914" "EYA1" "0000284915" "EYA1" "0000284916" "EYA1" "0000284917" "EYA1" "0000284918" "EYA1" "0000284919" "EYA1" "0000284920" "EYA1" "0000284921" "EYA1" "0000284922" "EYA1" "0000284923" "EYA1" "0000284924" "EYA1" "0000284925" "EYA1" "0000284926" "EYA1" "0000284927" "EYA1" "0000284928" "EYA1" "0000284929" "EYA1" "0000284930" "EYA1" "0000284931" "EYA1" "0000284932" "EYA1" "0000284933" "EYA1" "0000284934" "EYA1" "0000284935" "EYA1" "0000284936" "EYA1" "0000284937" "EYA1" "0000284938" "EYA1" "0000284939" "EYA1" "0000284940" "EYA1" "0000284941" "EYA1" "0000284942" "EYA1" "0000284943" "EYA1" "0000284944" "EYA1" "0000284945" "EYA1" "0000284946" "EYA1" "0000284947" "EYA1" "0000284948" "EYA1" "0000284949" "EYA1" "0000284950" "EYA1" "0000284951" "EYA1" "0000284952" "EYA1" "0000284953" "EYA1" "0000284954" "EYA1" "0000284955" "EYA1" "0000284956" "EYA1" "0000284957" "EYA1" "0000284958" "EYA1" "0000284959" "EYA1" "0000284960" "EYA1" "0000284961" "EYA1" "0000284962" "EYA1" "0000284963" "EYA1" "0000284964" "EYA1" "0000284965" "EYA1" "0000284966" "EYA1" "0000284967" "EYA1" "0000284968" "EYA1" "0000284969" "EYA1" "0000284970" "EYA1" "0000284971" "EYA1" "0000284972" "EYA1" "0000284973" "EYA1" "0000284974" "EYA1" "0000284975" "EYA1" "0000284976" "EYA1" "0000284977" "EYA1" "0000284978" "EYA1" "0000284979" "EYA1" "0000284980" "EYA1" "0000284981" "EYA1" "0000284982" "EYA1" "0000284983" "EYA1" "0000284984" "EYA1" "0000284985" "EYA1" "0000284986" "EYA1" "0000284987" "EYA1" "0000284988" "EYA1" "0000284989" "EYA1" "0000284990" "EYA1" "0000284991" "EYA1" "0000284992" "EYA1" "0000284993" "EYA1" "0000284994" "EYA1" "0000284995" "EYA1" "0000284996" "EYA1" "0000284997" "EYA1" "0000284998" "EYA1" "0000284999" "EYA1" "0000285000" "EYA1" "0000285001" "EYA1" "0000285002" "EYA1" "0000285003" "EYA1" "0000285004" "EYA1" "0000285005" "EYA1" "0000285006" "EYA1" "0000285007" "EYA1" "0000285008" "EYA1" "0000285009" "EYA1" "0000285010" "EYA1" "0000285011" "EYA1" "0000285012" "EYA1" "0000285013" "EYA1" "0000285014" "EYA1" "0000285015" "EYA1" "0000285016" "EYA1" "0000285017" "EYA1" "0000285018" "EYA1" "0000285019" "EYA1" "0000285020" "EYA1" "0000285021" "EYA1" "0000285022" "EYA1" "0000285023" "EYA1" "0000285024" "EYA1" "0000285025" "EYA1" "0000285026" "EYA1" "0000285027" "EYA1" "0000285028" "EYA1" "0000285029" "EYA1" "0000285030" "EYA1" "0000285031" "EYA1" "0000285032" "EYA1" "0000285033" "EYA1" "0000285034" "EYA1" "0000285035" "EYA1" "0000285036" "EYA1" "0000285037" "EYA1" "0000285038" "EYA1" "0000285039" "EYA1" "0000285040" "EYA1" "0000285041" "EYA1" "0000285042" "EYA1" "0000285043" "EYA1" "0000285044" "EYA1" "0000285045" "EYA1" "0000285046" "EYA1" "0000285047" "EYA1" "0000285048" "EYA1" "0000285049" "EYA1" "0000285050" "EYA1" "0000285051" "EYA1" "0000285052" "EYA1" "0000285053" "EYA1" "0000285054" "EYA1" "0000285055" "EYA1" "0000285056" "EYA1" "0000285057" "EYA1" "0000285058" "EYA1" "0000285059" "EYA1" "0000285060" "EYA1" "0000285062" "EYA1" "0000285063" "EYA1" "0000307359" "EYA1" "0000308049" "EYA1" "0000410097" "EYA1" "0000410097" "HOXA2" "0000410097" "SALL1" "0000410097" "TBX1" "0000410097" "TCOF1" "0000450087" "EYA1" ## 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 = 268 "{{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}}" "0000021283" "1" "70" "8" "72127864" "72127864" "subst" "0.000735695" "00130" "EYA1_000001" "g.72127864G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "same as in unrelated patient, segregation analysis needed" "Unknown" "?" "" "" "" "" "g.71215629G>A" "" "likely pathogenic" "" "0000021286" "1" "70" "8" "72127864" "72127864" "subst" "0.000735695" "00130" "EYA1_000001" "g.72127864G>A" "" "{PMID:Neveling 2013:24123792}" "" "" "same as in unrelated patient, segregation analysis needed" "Unknown" "?" "" "" "" "" "g.71215629G>A" "" "likely pathogenic" "" "0000223241" "11" "90" "8" "72127888" "72127888" "subst" "0" "00006" "EYA1_000002" "g.72127888A>T" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.71215653A>T" "" "pathogenic" "" "0000247852" "0" "10" "8" "72111599" "72111599" "subst" "0.394282" "02325" "EYA1_000003" "g.72111599A>G" "" "" "" "EYA1(NM_000503.5):c.1755T>C (p.H585=), EYA1(NM_000503.6):c.1755T>C (p.H585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71199364A>G" "" "benign" "" "0000250634" "0" "10" "8" "72111599" "72111599" "subst" "0.394282" "02326" "EYA1_000003" "g.72111599A>G" "" "" "" "EYA1(NM_000503.5):c.1755T>C (p.H585=), EYA1(NM_000503.6):c.1755T>C (p.H585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71199364A>G" "" "benign" "" "0000251431" "0" "10" "8" "72127604" "72127604" "subst" "0.013179" "02326" "EYA1_000006" "g.72127604A>G" "" "" "" "EYA1(NM_000503.5):c.1597+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215369A>G" "" "benign" "" "0000252986" "0" "10" "8" "72111599" "72111599" "subst" "0.394282" "01943" "EYA1_000003" "g.72111599A>G" "" "" "" "EYA1(NM_000503.5):c.1755T>C (p.H585=), EYA1(NM_000503.6):c.1755T>C (p.H585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71199364A>G" "" "benign" "" "0000254277" "0" "30" "8" "72234066" "72234066" "subst" "0.000410209" "01943" "EYA1_000015" "g.72234066A>G" "" "" "" "EYA1(NM_000503.5):c.321T>C (p.A107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71321831A>G" "" "likely benign" "" "0000267923" "0" "10" "8" "72129009" "72129009" "subst" "0.217972" "02325" "EYA1_000008" "g.72129009G>A" "" "" "" "EYA1(NM_000503.5):c.1278C>T (p.G426=), EYA1(NM_000503.6):c.1278C>T (p.G426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71216774G>A" "" "benign" "" "0000271271" "0" "10" "8" "72111658" "72111658" "subst" "0.0151642" "02326" "EYA1_000004" "g.72111658G>A" "" "" "" "EYA1(NM_000503.5):c.1699-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71199423G>A" "" "benign" "" "0000271272" "0" "90" "8" "72211957" "72211957" "subst" "0" "02326" "EYA1_000012" "g.72211957T>C" "" "" "" "EYA1(NM_000503.5):c.557-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71299722T>C" "" "pathogenic" "" "0000271273" "0" "10" "8" "72267083" "72267083" "subst" "0.0133843" "02326" "EYA1_000018" "g.72267083G>C" "" "" "" "EYA1(NM_000503.5):c.58C>G (p.P20A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71354848G>C" "" "benign" "" "0000276457" "0" "30" "8" "72181975" "72181975" "subst" "0" "01943" "EYA1_000009" "g.72181975C>T" "" "" "" "EYA1(NM_000503.5):c.1050G>A (p.R350=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71269740C>T" "" "likely benign" "" "0000276458" "0" "10" "8" "72129009" "72129009" "subst" "0.217972" "01943" "EYA1_000008" "g.72129009G>A" "" "" "" "EYA1(NM_000503.5):c.1278C>T (p.G426=), EYA1(NM_000503.6):c.1278C>T (p.G426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71216774G>A" "" "benign" "" "0000276459" "0" "50" "8" "72127864" "72127864" "subst" "0.000735695" "01943" "EYA1_000001" "g.72127864G>A" "" "" "" "EYA1(NM_000503.5):c.1460C>T (p.S487L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215629G>A" "" "VUS" "" "0000276460" "0" "10" "8" "72127764" "72127764" "subst" "0.377411" "01943" "EYA1_000007" "g.72127764C>A" "" "" "" "EYA1(NM_000503.5):c.1476-21G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215529C>A" "" "benign" "" "0000276461" "0" "50" "8" "72246376" "72246376" "subst" "0.00000406448" "01943" "EYA1_000016" "g.72246376G>A" "" "" "" "EYA1(NM_000503.5):c.158C>T (p.A53V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71334141G>A" "" "VUS" "" "0000276462" "0" "10" "8" "72111678" "72111678" "subst" "0.39463" "01943" "EYA1_000005" "g.72111678T>C" "" "" "" "EYA1(NM_000503.5):c.1699-23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71199443T>C" "" "benign" "" "0000276463" "0" "30" "8" "72184119" "72184119" "subst" "0.00235535" "01943" "EYA1_000011" "g.72184119G>T" "" "" "" "EYA1(NM_000503.5):c.840C>A (p.I280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71271884G>T" "" "likely benign" "" "0000332173" "0" "30" "8" "72184094" "72184094" "subst" "0.000138081" "01804" "EYA1_000010" "g.72184094C>A" "" "" "" "EYA1(NM_000503.6):c.865G>T (p.(Asp289Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71271859C>A" "" "likely benign" "" "0000332174" "0" "50" "8" "72229779" "72229779" "subst" "0.0000284483" "01804" "EYA1_000013" "g.72229779A>T" "" "" "" "EYA1(NM_000503.4):c.556+8T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71317544A>T" "" "VUS" "" "0000332175" "0" "50" "8" "72229909" "72229909" "subst" "0.00000406151" "01804" "EYA1_000014" "g.72229909C>T" "" "" "" "EYA1(NM_000503.4):c.434G>A (p.(Gly145Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71317674C>T" "" "VUS" "" "0000338661" "0" "10" "8" "72127604" "72127604" "subst" "0.013179" "02327" "EYA1_000006" "g.72127604A>G" "" "" "" "EYA1(NM_000503.5):c.1597+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215369A>G" "" "benign" "" "0000338663" "0" "90" "8" "72183988" "72183988" "subst" "0" "02327" "EYA1_000034" "g.72183988C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71271753C>T" "" "pathogenic" "" "0000338664" "0" "10" "8" "72229769" "72229769" "subst" "0.00659137" "02327" "EYA1_000040" "g.72229769C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71317534C>A" "" "benign" "" "0000340404" "0" "10" "8" "72111599" "72111599" "subst" "0.394282" "02327" "EYA1_000003" "g.72111599A>G" "" "" "" "EYA1(NM_000503.5):c.1755T>C (p.H585=), EYA1(NM_000503.6):c.1755T>C (p.H585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71199364A>G" "" "benign" "" "0000340405" "0" "10" "8" "72129009" "72129009" "subst" "0.217972" "02327" "EYA1_000008" "g.72129009G>A" "" "" "" "EYA1(NM_000503.5):c.1278C>T (p.G426=), EYA1(NM_000503.6):c.1278C>T (p.G426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71216774G>A" "" "benign" "" "0000341477" "0" "50" "8" "72127696" "72127696" "subst" "0.00000406587" "02327" "EYA1_000023" "g.72127696G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215461G>A" "" "VUS" "" "0000342599" "0" "90" "8" "72184037" "72184037" "subst" "0" "02327" "EYA1_000036" "g.72184037G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71271802G>A" "" "pathogenic" "" "0000342728" "0" "90" "8" "72156897" "72156897" "subst" "0" "02327" "EYA1_000032" "g.72156897G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71244662G>A" "" "pathogenic" "" "0000342904" "0" "90" "8" "72128968" "72128968" "subst" "0" "02327" "EYA1_000026" "g.72128968C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71216733C>T" "" "pathogenic" "" "0000344807" "0" "90" "8" "72129249" "72129249" "subst" "0" "02327" "EYA1_000029" "g.72129249G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71217014G>A" "" "pathogenic" "" "0000345638" "0" "70" "8" "72234068" "72234068" "subst" "0" "02327" "EYA1_000042" "g.72234068C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71321833C>T" "" "likely pathogenic" "" "0000347239" "0" "90" "8" "72111606" "72111606" "subst" "0" "02327" "EYA1_000019" "g.72111606A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71199371A>C" "" "pathogenic" "" "0000349049" "0" "90" "8" "72127865" "72127865" "subst" "0.00000406425" "02327" "EYA1_000025" "g.72127865A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215630A>G" "" "pathogenic" "" "0000349078" "0" "50" "8" "72127637" "72127637" "subst" "0" "02327" "EYA1_000022" "g.72127637T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215402T>G" "" "VUS" "" "0000349401" "0" "10" "8" "72211295" "72211295" "subst" "0.129193" "02327" "EYA1_000038" "g.72211295T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71299060T>C" "" "benign" "" "0000349777" "0" "90" "8" "72182045" "72182045" "subst" "0" "02327" "EYA1_000033" "g.72182045C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71269810C>T" "" "pathogenic" "" "0000349802" "0" "90" "8" "72128998" "72128998" "subst" "0" "02327" "EYA1_000027" "g.72128998C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71216763C>T" "" "pathogenic" "" "0000349901" "0" "90" "8" "72234006" "72234006" "subst" "0" "02327" "EYA1_000041" "g.72234006G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71321771G>T" "" "pathogenic" "" "0000351353" "0" "90" "8" "72127745" "72127745" "subst" "0" "02327" "EYA1_000024" "g.72127745T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71215510T>C" "" "pathogenic" "" "0000351354" "0" "90" "8" "72129260" "72129260" "subst" "0" "02327" "EYA1_000030" "g.72129260T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.71217025T>C" "" "pathogenic" "" "0000368848" "11" "90" "8" "72156856" "72156856" "del" "0" "02476" "EYA1_000043" "g.72156856del" "" "" "" "1122delA" "" "Germline" "yes" "" "0" "" "" "g.71244621del" "" "pathogenic" "" "0000535299" "0" "90" "8" "72111638" "72111638" "subst" "0" "01943" "EYA1_000044" "g.72111638C>T" "" "" "" "EYA1(NM_000503.5):c.1716G>A (p.W572*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71199403C>T" "" "pathogenic" "" "0000535301" "0" "10" "8" "72111658" "72111658" "subst" "0.0151642" "02327" "EYA1_000004" "g.72111658G>A" "" "" "" "EYA1(NM_000503.5):c.1699-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71199423G>A" "" "benign" "" "0000535302" "0" "30" "8" "72111663" "72111663" "subst" "0.000793954" "01943" "EYA1_000045" "g.72111663A>G" "" "" "" "EYA1(NM_000503.5):c.1699-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71199428A>G" "" "likely benign" "" "0000535303" "0" "30" "8" "72123442" "72123442" "subst" "0" "01943" "EYA1_000046" "g.72123442C>T" "" "" "" "EYA1(NM_000503.5):c.1647G>A (p.V549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71211207C>T" "" "likely benign" "" "0000535304" "0" "50" "8" "72127730" "72127730" "subst" "0.00000813326" "02327" "EYA1_000047" "g.72127730T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71215495T>C" "" "VUS" "" "0000535305" "0" "90" "8" "72129210" "72129210" "subst" "0" "02327" "EYA1_000048" "g.72129210G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71216975G>A" "" "pathogenic" "" "0000535306" "0" "90" "8" "72181997" "72181997" "del" "0" "02326" "EYA1_000049" "g.72181997del" "" "" "" "EYA1(NM_000503.5):c.1029delC (p.Y344Tfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71269762del" "" "pathogenic" "" "0000535308" "0" "30" "8" "72211326" "72211326" "subst" "0.00205484" "01943" "EYA1_000051" "g.72211326G>A" "" "" "" "EYA1(NM_000503.5):c.782C>T (p.P261L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71299091G>A" "" "likely benign" "" "0000535309" "0" "30" "8" "72211337" "72211337" "subst" "0" "01943" "EYA1_000052" "g.72211337C>T" "" "" "" "EYA1(NM_000503.5):c.771G>A (p.Q257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71299102C>T" "" "likely benign" "" "0000535310" "0" "10" "8" "72211364" "72211364" "subst" "0.00120222" "01943" "EYA1_000053" "g.72211364C>T" "" "" "" "EYA1(NM_000503.5):c.744G>A (p.T248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71299129C>T" "" "benign" "" "0000535311" "0" "90" "8" "72211891" "72211894" "del" "0" "02327" "EYA1_000054" "g.72211891_72211894del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71299656_71299659del" "" "pathogenic" "" "0000535312" "0" "50" "8" "72234026" "72234026" "subst" "0.00000812592" "02327" "EYA1_000055" "g.72234026C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71321791C>T" "" "VUS" "" "0000535313" "0" "90" "8" "72234450" "72234450" "subst" "0" "02327" "EYA1_000056" "g.72234450G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71322215G>A" "" "pathogenic" "" "0000640637" "1" "99" "8" "72111575" "72111575" "subst" "0" "00004" "EYA1_000057" "g.72111575T>G" "" "{DB:DVD}, {PMID:Rickard 2000:10991693}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199340T>G" "" "pathogenic" "" "0000640638" "1" "99" "8" "72111577" "72111577" "subst" "0" "00004" "EYA1_000058" "g.72111577A>G" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199342A>G" "" "pathogenic" "" "0000640639" "1" "99" "8" "72111581" "72111581" "subst" "0" "00004" "EYA1_000059" "g.72111581G>C" "" "{DB:DVD}, {PMID:Sanggaard 2007:17637804}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199346G>C" "" "pathogenic" "" "0000640640" "1" "99" "8" "72111588" "72111588" "dup" "0" "00004" "EYA1_000060" "g.72111588dup" "" "{DB:DVD}, {PMID:Matsunaga 2007:17364338}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199353dup" "" "pathogenic" "" "0000640641" "1" "99" "8" "72111600" "72111600" "dup" "0" "00004" "EYA1_000061" "g.72111600dup" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199365dup" "" "pathogenic" "" "0000640642" "1" "99" "8" "72111606" "72111606" "subst" "0" "00004" "EYA1_000062" "g.72111606A>G" "" "{DB:DVD}, {PMID:Rickard 2000:10991693}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199371A>G" "" "pathogenic" "" "0000640643" "1" "99" "8" "72111620" "72111620" "del" "0" "00004" "EYA1_000063" "g.72111620del" "" "{DB:DVD}, {PMID:Wang 2012:22447252}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199385del" "" "pathogenic" "" "0000640644" "1" "99" "8" "72111621" "72111621" "subst" "0.00000409115" "00004" "EYA1_000064" "g.72111621G>A" "" "{DB:DVD}, {PMID:Hwang 2014:24429398}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199386G>A" "" "pathogenic" "" "0000640645" "1" "99" "8" "72111638" "72111638" "subst" "0" "00004" "EYA1_000044" "g.72111638C>T" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199403C>T" "" "pathogenic" "" "0000640646" "1" "99" "8" "72111648" "72111648" "subst" "0" "00004" "EYA1_000065" "g.72111648A>G" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71199413A>G" "" "pathogenic" "" "0000640647" "1" "99" "8" "72123386" "72123386" "subst" "0" "00004" "EYA1_000066" "g.72123386C>G" "" "{DB:DVD}, {PMID:Abdelhak 1997:9361030}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211151C>G" "" "pathogenic" "" "0000640648" "1" "99" "8" "72123390" "72123391" "ins" "0" "00004" "EYA1_000068" "g.72123390_72123391insA" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211155_71211156insA" "" "pathogenic" "" "0000640649" "1" "99" "8" "72123390" "72123390" "subst" "0" "00004" "EYA1_000067" "g.72123390C>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211155C>A" "" "pathogenic" "" "0000640650" "1" "99" "8" "72123391" "72123392" "ins" "0" "00004" "EYA1_000069" "g.72123391_72123392insA" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211156_71211157insA" "" "pathogenic" "" "0000640651" "1" "99" "8" "72123391" "72123394" "del" "0" "00004" "EYA1_000070" "g.72123391_72123394del" "" "{DB:DVD}, {PMID:Kumar 1998:9603436}, {PMID:Rowley 1969:5365063}, {PMID:Smith 1993:20301554} 3," "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211156_71211159del" "" "pathogenic" "" "0000640652" "1" "99" "8" "72123397" "72123397" "dup" "0" "00004" "EYA1_000071" "g.72123397dup" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211162dup" "" "pathogenic" "" "0000640653" "1" "99" "8" "72123398" "72123398" "del" "0" "00004" "EYA1_000072" "g.72123398del" "" "{DB:DVD}, {PMID:Kumar 1998:9603436}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211163del" "" "pathogenic" "" "0000640654" "1" "99" "8" "72123431" "72123434" "dup" "0" "00004" "EYA1_000073" "g.72123431_72123434dup" "" "{DB:DVD}, {PMID:Abdelhak 1997:9020840}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211196_71211199dup" "" "pathogenic" "" "0000640655" "1" "99" "8" "72123434" "72123436" "del" "0" "00004" "EYA1_000074" "g.72123434_72123436del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211199_71211201del" "" "pathogenic" "" "0000640656" "1" "99" "8" "72123436" "72123436" "subst" "0" "00004" "EYA1_000075" "g.72123436A>C" "" "{DB:DVD}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211201A>C" "" "pathogenic" "" "0000640657" "1" "99" "8" "72123440" "72123440" "subst" "0" "00004" "EYA1_000076" "g.72123440A>T" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211205A>T" "" "pathogenic" "" "0000640658" "1" "99" "8" "72123447" "72123451" "del" "0" "00004" "EYA1_000077" "g.72123447_72123451del" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211212_71211216del" "" "pathogenic" "" "0000640659" "1" "99" "8" "72123448" "72123448" "del" "0" "00004" "EYA1_000078" "g.72123448del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211213del" "" "pathogenic" "" "0000640660" "1" "99" "8" "72123450" "72123450" "subst" "0" "00004" "EYA1_000079" "g.72123450T>C" "" "{DB:DVD}, {PMID:Azuma 2000:10655545}, {PMID:Buller 2001:11734542}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211215T>C" "" "pathogenic" "" "0000640661" "1" "99" "8" "72123474" "72123477" "dup" "0" "00004" "EYA1_000080" "g.72123474_72123477dup" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211239_71211242dup" "" "pathogenic" "" "0000640662" "1" "99" "8" "72123482" "72123486" "del" "0" "00004" "EYA1_000081" "g.72123482_72123486del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211247_71211251del" "" "pathogenic" "" "0000640663" "1" "99" "8" "72123486" "72123489" "del" "0" "00004" "EYA1_000082" "g.72123486_72123489del" "" "{DB:DVD}, {PMID:Kumar 1998:9603436}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211251_71211254del" "" "pathogenic" "" "0000640664" "1" "99" "8" "72123492" "72123492" "subst" "0" "00004" "EYA1_000083" "g.72123492C>T" "" "{DB:DVD}, {PMID:Okada 2006:16491411}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211257C>T" "" "pathogenic" "" "0000640665" "1" "99" "8" "72123493" "72123493" "subst" "0" "00004" "EYA1_000084" "g.72123493T>G" "" "{DB:DVD}, {PMID:Song 2013:23840632}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71211258T>G" "" "pathogenic" "" "0000640666" "1" "99" "8" "72127620" "72127620" "subst" "0" "00004" "EYA1_000085" "g.72127620A>C" "" "{DB:DVD}, {PMID:Abdelhak 1997:9020840}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215385A>C" "" "pathogenic" "" "0000640667" "1" "99" "8" "72127622" "72127622" "subst" "0" "00004" "EYA1_000086" "g.72127622C>T" "" "{DB:DVD}, {PMID:Castiglione 2014:24803398}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215387C>T" "" "pathogenic" "" "0000640668" "1" "99" "8" "72127628" "72127628" "subst" "0" "00004" "EYA1_000087" "g.72127628T>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215393T>A" "" "pathogenic" "" "0000640669" "1" "99" "8" "72127639" "72127639" "subst" "0" "00004" "EYA1_000088" "g.72127639T>C" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215404T>C" "" "pathogenic" "" "0000640670" "1" "99" "8" "72127640" "72127640" "subst" "0" "00004" "EYA1_000089" "g.72127640A>T" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215405A>T" "" "pathogenic" "" "0000640671" "1" "99" "8" "72127649" "72127649" "subst" "0" "00004" "EYA1_000090" "g.72127649C>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215414C>A" "" "pathogenic" "" "0000640672" "1" "99" "8" "72127678" "72127678" "subst" "0" "00004" "EYA1_000091" "g.72127678A>G" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215443A>G" "" "pathogenic" "" "0000640673" "1" "99" "8" "72127681" "72127681" "subst" "0" "00004" "EYA1_000092" "g.72127681A>G" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215446A>G" "" "pathogenic" "" "0000640674" "1" "99" "8" "72127685" "72127685" "subst" "0" "00004" "EYA1_000093" "g.72127685C>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215450C>A" "" "pathogenic" "" "0000640675" "1" "99" "8" "72127688" "72127688" "dup" "0" "00004" "EYA1_000094" "g.72127688dup" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215453dup" "" "pathogenic" "" "0000640676" "1" "99" "8" "72127695" "72127695" "del" "0" "00004" "EYA1_000095" "g.72127695del" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215460del" "" "pathogenic" "" "0000640677" "1" "99" "8" "72127705" "72127705" "subst" "0" "00004" "EYA1_000096" "g.72127705A>C" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Abdelhak 1997:9361030}, {PMID:Buller 2001:11734542}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215470A>C" "" "pathogenic" "" "0000640678" "1" "99" "8" "72127709" "72127709" "subst" "0" "00004" "EYA1_000097" "g.72127709G>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215474G>A" "" "pathogenic" "" "0000640679" "1" "99" "8" "72127714" "72127720" "del" "0" "00004" "EYA1_000098" "g.72127714_72127720del" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Shimasaki 2004:15493068}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215479_71215485del" "" "pathogenic" "" "0000640680" "1" "99" "8" "72127726" "72127726" "del" "0" "00004" "EYA1_000099" "g.72127726del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215491del" "" "pathogenic" "" "0000640681" "1" "99" "8" "72127726" "72127726" "dup" "0" "00004" "EYA1_000100" "g.72127726dup" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215491dup" "" "pathogenic" "" "0000640682" "1" "99" "8" "72127735" "72127736" "del" "0" "00004" "EYA1_000101" "g.72127735_72127736del" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215500_71215501del" "" "pathogenic" "" "0000640683" "1" "99" "8" "72127745" "72127745" "subst" "0" "00004" "EYA1_000024" "g.72127745T>C" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215510T>C" "" "pathogenic" "" "0000640684" "1" "99" "8" "72127848" "72127848" "subst" "0" "00004" "EYA1_000102" "g.72127848C>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215613C>T" "" "pathogenic" "" "0000640685" "1" "99" "8" "72127848" "72127848" "subst" "0" "00004" "EYA1_000103" "g.72127848C>G" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Gigante 2013:23506628}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215613C>G" "" "pathogenic" "" "0000640686" "1" "99" "8" "72127849" "72127849" "subst" "0" "00004" "EYA1_000104" "g.72127849C>G" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215614C>G" "" "pathogenic" "" "0000640687" "1" "99" "8" "72127851" "72127854" "dup" "0" "00004" "EYA1_000105" "g.72127851_72127854dup" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215616_71215619dup" "" "pathogenic" "" "0000640688" "1" "99" "8" "72127852" "72127852" "dup" "0" "00004" "EYA1_000106" "g.72127852dup" "" "{DB:DVD}, {PMID:Kim 2005:16005355}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215617dup" "" "pathogenic" "" "0000640689" "1" "99" "8" "72127853" "72127853" "delins" "0" "00004" "EYA1_000107" "g.72127853delinsGTCTCT" "" "{DB:DVD}, {PMID:Abdelhak 1997:9020840}, {PMID:Rickard 2000:10991693}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215618delinsGTCTCT" "" "pathogenic" "" "0000640690" "1" "99" "8" "72127865" "72127865" "subst" "0.00000406425" "00004" "EYA1_000025" "g.72127865A>G" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Abdelhak 1997:9361030}, {PMID:Buller 2001:11734542}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215630A>G" "" "pathogenic" "" "0000640691" "1" "99" "8" "72127866" "72127866" "dup" "0" "00004" "EYA1_000108" "g.72127866dup" "" "{DB:DVD}, {PMID:Abdelhak 1997:9020840}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215631dup" "" "pathogenic" "" "0000640692" "1" "33" "8" "72127899" "72127899" "subst" "0.0000284514" "00004" "EYA1_000109" "g.72127899G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215664G>A" "" "likely benign" "" "0000640693" "1" "99" "8" "72127921" "72127921" "del" "0" "00004" "EYA1_000110" "g.72127921del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215686del" "" "pathogenic" "" "0000640694" "1" "55" "8" "72127922" "72127922" "subst" "0" "00004" "EYA1_000111" "g.72127922T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215687T>C" "" "VUS" "" "0000640695" "1" "99" "8" "72127924" "72127924" "subst" "0" "00004" "EYA1_000112" "g.72127924A>T" "" "{DB:DVD}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215689A>T" "" "pathogenic" "" "0000640696" "1" "99" "8" "72127946" "72127947" "delins" "0" "00004" "EYA1_000113" "g.72127946_72127947delinsAT" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215711_71215712delinsAT" "" "pathogenic" "" "0000640697" "1" "99" "8" "72127964" "72127964" "subst" "0" "00004" "EYA1_000114" "g.72127964C>A" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71215729C>A" "" "pathogenic" "" "0000640698" "1" "99" "8" "72128922" "72128922" "subst" "0" "00004" "EYA1_000115" "g.72128922C>T" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216687C>T" "" "pathogenic" "" "0000640699" "1" "55" "8" "72128925" "72128925" "subst" "0.0000446853" "00004" "EYA1_000116" "g.72128925G>A" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216690G>A" "" "VUS" "" "0000640700" "1" "99" "8" "72128937" "72128937" "delins" "0" "00004" "EYA1_000117" "g.72128937delinsGG" "" "{DB:DVD}, {PMID:Abdelhak 1997:9020840}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216702delinsGG" "" "pathogenic" "" "0000640701" "1" "99" "8" "72128956" "72128957" "dup" "0" "00004" "EYA1_000118" "g.72128956_72128957dup" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216721_71216722dup" "" "pathogenic" "" "0000640702" "1" "99" "8" "72128963" "72128964" "del" "0" "00004" "EYA1_000119" "g.72128963_72128964del" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216728_71216729del" "" "pathogenic" "" "0000640703" "1" "99" "8" "72128968" "72128968" "subst" "0" "00004" "EYA1_000026" "g.72128968C>T" "" "{DB:DVD}, {PMID:Chang 2004:15146463}, {PMID:Krug 2011:21280147}, {PMID:Smith 1993:20301554}, {PMID:Li 2010:19951260}, {PMID:Orten 2008:18220287}, {PMID:Duzkale 2013:24033266}, {PMID:Kumar 1997-1998:10464653}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216733C>T" "" "pathogenic" "" "0000640704" "1" "99" "8" "72128971" "72128974" "dup" "0" "00004" "EYA1_000120" "g.72128971_72128974dup" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216736_71216739dup" "" "pathogenic" "" "0000640705" "1" "55" "8" "72128992" "72128992" "subst" "0.00000406316" "00004" "EYA1_000121" "g.72128992C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216757C>T" "" "VUS" "" "0000640706" "1" "99" "8" "72129001" "72129001" "subst" "0" "00004" "EYA1_000122" "g.72129001T>C" "" "{DB:DVD}, {PMID:Namba 2001:11558900}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216766T>C" "" "pathogenic" "" "0000640707" "1" "99" "8" "72129008" "72129009" "ins" "0" "00004" "EYA1_000123" "g.72129008_72129009insCCC" "" "{DB:DVD}, {PMID:Weber 2006:16971658}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216773_71216774insCCC" "" "pathogenic" "" "0000640708" "1" "99" "8" "72129011" "72129011" "subst" "0.000134109" "00004" "EYA1_000124" "g.72129011C>T" "" "{DB:DVD}, {PMID:Azuma 2000:10655545}, {PMID:Buller 2001:11734542}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216776C>T" "" "pathogenic" "" "0000640709" "1" "99" "8" "72129020" "72129020" "del" "0" "00004" "EYA1_000125" "g.72129020del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216785del" "" "pathogenic" "" "0000640710" "1" "99" "8" "72129074" "72129074" "subst" "0" "00004" "EYA1_000126" "g.72129074C>T" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216839C>T" "" "pathogenic" "" "0000640711" "1" "99" "8" "72129081" "72129081" "subst" "0" "00004" "EYA1_000127" "g.72129081A>T" "" "{DB:DVD}, {PMID:Okada 2006:16491411}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216846A>T" "" "pathogenic" "" "0000640712" "1" "33" "8" "72129187" "72129187" "subst" "0.0002724" "00004" "EYA1_000128" "g.72129187C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216952C>A" "" "likely benign" "" "0000640713" "1" "99" "8" "72129199" "72129199" "subst" "0" "00004" "EYA1_000129" "g.72129199C>G" "" "{DB:DVD}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216964C>G" "" "pathogenic" "" "0000640714" "1" "55" "8" "72129213" "72129213" "subst" "0.0000040654" "00004" "EYA1_000130" "g.72129213C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216978C>T" "" "VUS" "" "0000640715" "1" "33" "8" "72129214" "72129214" "subst" "0.000276477" "00004" "EYA1_000131" "g.72129214G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71216979G>A" "" "likely benign" "" "0000640716" "1" "99" "8" "72129244" "72129244" "del" "0" "00004" "EYA1_000132" "g.72129244del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71217009del" "" "pathogenic" "" "0000640717" "1" "99" "8" "72129259" "72129259" "subst" "0" "00004" "EYA1_000133" "g.72129259C>T" "" "{DB:DVD}, {PMID:Sanggaard 2007:17637804}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71217024C>T" "" "pathogenic" "" "0000640718" "1" "99" "8" "72129260" "72129260" "dup" "0" "00004" "EYA1_000134" "g.72129260dup" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71217025dup" "" "pathogenic" "" "0000640719" "1" "99" "8" "72156837" "72156840" "inv" "0" "00004" "EYA1_000137" "g.72156837_72156840inv" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244602_71244605inv" "" "pathogenic" "" "0000640720" "1" "99" "8" "72156837" "72156837" "subst" "0" "00004" "EYA1_000135" "g.72156837C>T" "" "{DB:DVD}, {PMID:Song 2013:23840632}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244602C>T" "" "pathogenic" "" "0000640721" "1" "99" "8" "72156837" "72156837" "subst" "0" "00004" "EYA1_000136" "g.72156837C>A" "" "{DB:DVD}, {PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244602C>A" "" "pathogenic" "" "0000640722" "1" "99" "8" "72156840" "72156840" "subst" "0" "00004" "EYA1_000138" "g.72156840C>A" "" "{DB:DVD}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244605C>A" "" "pathogenic" "" "0000640723" "1" "99" "8" "72156856" "72156856" "del" "0" "00004" "EYA1_000043" "g.72156856del" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244621del" "" "pathogenic" "" "0000640724" "1" "99" "8" "72156859" "72156860" "del" "0" "00004" "EYA1_000139" "g.72156859_72156860del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244624_71244625del" "" "pathogenic" "" "0000640725" "1" "55" "8" "72156871" "72156871" "subst" "0" "00004" "EYA1_000140" "g.72156871C>A" "" "{DB:DVD}, {PMID:Febbo 2011:22138009}, {PMID:Hampel 2015:25394175}, {PMID:Sturgeon 2008:19042984}, {PMID:Carter 2013:23659877}, {PMID:Evaluation of Genomic Applications in Practice and Prevention (EGAPP Working Group. 2014:24071797}, {PMID:Lindberg 2013:23265383}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244636C>A" "" "VUS" "" "0000640726" "1" "99" "8" "72156890" "72156890" "subst" "0" "00004" "EYA1_000141" "g.72156890T>A" "" "{DB:DVD}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244655T>A" "" "pathogenic" "" "0000640727" "1" "99" "8" "72156891" "72156891" "subst" "0" "00004" "EYA1_000142" "g.72156891C>T" "" "{DB:DVD}, {PMID:Azuma 2000:10655545}, {PMID:Buller 2001:11734542}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244656C>T" "" "pathogenic" "" "0000640728" "1" "99" "8" "72156897" "72156897" "subst" "0" "00004" "EYA1_000032" "g.72156897G>A" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Spruijt 2006:16691597}, {PMID:Olavarrieta 2008:18177466}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244662G>A" "" "pathogenic" "" "0000640729" "1" "99" "8" "72156927" "72156927" "subst" "0" "00004" "EYA1_000143" "g.72156927C>A" "" "{DB:DVD}, {PMID:Okada 2006:16491411}, {PMID:Fu 2011:21288883}, {PMID:Grodecká 2014:24586880}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244692C>A" "" "pathogenic" "" "0000640730" "1" "99" "8" "72156928" "72156928" "subst" "0" "00004" "EYA1_000144" "g.72156928C>G" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244693C>G" "" "pathogenic" "" "0000640731" "1" "99" "8" "72156929" "72156929" "subst" "0" "00004" "EYA1_000145" "g.72156929T>C" "" "{DB:DVD}, {PMID:Okada 2006:16491411}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244694T>C" "" "pathogenic" "" "0000640732" "1" "99" "8" "72156939" "72156939" "subst" "0" "00004" "EYA1_000146" "g.72156939A>C" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71244704A>C" "" "pathogenic" "" "0000640733" "1" "99" "8" "72181974" "72181974" "subst" "0" "00004" "EYA1_000147" "g.72181974C>G" "" "{DB:DVD}, {PMID:Henriksen 2004:15684871}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269739C>G" "" "pathogenic" "" "0000640734" "1" "99" "8" "72181974" "72181974" "subst" "0" "00004" "EYA1_000148" "g.72181974C>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269739C>A" "" "pathogenic" "" "0000640735" "1" "99" "8" "72181977" "72181980" "del" "0" "00004" "EYA1_000149" "g.72181977_72181980del" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269742_71269745del" "" "pathogenic" "" "0000640736" "1" "99" "8" "72181997" "72181997" "del" "0" "00004" "EYA1_000049" "g.72181997del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269762del" "" "pathogenic" "" "0000640737" "1" "99" "8" "72182009" "72182009" "delins" "0" "00004" "EYA1_000150" "g.72182009delinsCT" "" "{DB:DVD}, {PMID:Vervoort 2002:12404110}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269774delinsCT" "" "pathogenic" "" "0000640738" "1" "99" "8" "72182042" "72182049" "dup" "0" "00004" "EYA1_000151" "g.72182042_72182049dup" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269807_71269814dup" "" "pathogenic" "" "0000640739" "1" "99" "8" "72182048" "72182048" "subst" "0" "00004" "EYA1_000152" "g.72182048A>T" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269813A>T" "" "pathogenic" "" "0000640740" "1" "99" "8" "72182054" "72182055" "dup" "0" "00004" "EYA1_000153" "g.72182054_72182055dup" "" "{DB:DVD}, {PMID:Vincent 1997:9359046}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269819_71269820dup" "" "pathogenic" "" "0000640741" "1" "99" "8" "72182059" "72182059" "subst" "0" "00004" "EYA1_000154" "g.72182059C>T" "" "{DB:DVD}, {PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269824C>T" "" "pathogenic" "" "0000640742" "1" "99" "8" "72182060" "72182060" "subst" "0" "00004" "EYA1_000155" "g.72182060T>C" "" "{DB:DVD}, {PMID:Kwon 2009:18763178}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71269825T>C" "" "pathogenic" "" "0000640743" "1" "99" "8" "72183980" "72183994" "del" "0" "00004" "EYA1_000156" "g.72183980_72183994del" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271745_71271759del" "" "pathogenic" "" "0000640744" "1" "99" "8" "72183988" "72183988" "subst" "0" "00004" "EYA1_000034" "g.72183988C>T" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Stockley 2009:19206155}, {PMID:Krug 2011:21280147}, {PMID:Song 2013:23840632}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271753C>T" "" "pathogenic" "" "0000640745" "1" "99" "8" "72183992" "72183992" "subst" "0" "00004" "EYA1_000157" "g.72183992C>T" "" "{DB:DVD}, {PMID:Hwang 2014:24429398}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271757C>T" "" "pathogenic" "" "0000640746" "1" "99" "8" "72183994" "72183994" "subst" "0" "00004" "EYA1_000158" "g.72183994T>C" "" "{DB:DVD}, {PMID:Song 2013:23840632}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271759T>C" "" "pathogenic" "" "0000640747" "1" "99" "8" "72184037" "72184037" "subst" "0" "00004" "EYA1_000036" "g.72184037G>A" "" "{DB:DVD}, {PMID:Abdelhak 1997:9020840}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271802G>A" "" "pathogenic" "" "0000640748" "1" "99" "8" "72184042" "72184042" "del" "0" "00004" "EYA1_000159" "g.72184042del" "" "{DB:DVD}, {PMID:Sanggaard 2007:17637804}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271807del" "" "pathogenic" "" "0000640749" "1" "99" "8" "72184070" "72184070" "subst" "0" "00004" "EYA1_000160" "g.72184070G>A" "" "{DB:DVD}, {PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271835G>A" "" "pathogenic" "" "0000640750" "1" "99" "8" "72184077" "72184077" "del" "0" "00004" "EYA1_000161" "g.72184077del" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271842del" "" "pathogenic" "" "0000640751" "1" "99" "8" "72184079" "72184079" "subst" "0" "00004" "EYA1_000050" "g.72184079G>A" "" "{DB:DVD}, {PMID:Kumar 1998:9603436}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271844G>A" "" "pathogenic" "" "0000640752" "1" "99" "8" "72184084" "72184084" "dup" "0" "00004" "EYA1_000162" "g.72184084dup" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271849dup" "" "pathogenic" "" "0000640753" "1" "99" "8" "72184093" "72184093" "del" "0" "00004" "EYA1_000163" "g.72184093del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271858del" "" "pathogenic" "" "0000640754" "1" "99" "8" "72184094" "72184094" "subst" "0.000138081" "00004" "EYA1_000010" "g.72184094C>A" "" "{DB:DVD}, {PMID:Classen 2013:23552953}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271859C>A" "" "pathogenic" "" "0000640755" "1" "99" "8" "72184094" "72184097" "del" "0" "00004" "EYA1_000164" "g.72184094_72184097del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271859_71271862del" "" "pathogenic" "" "0000640756" "1" "99" "8" "72184105" "72184105" "dup" "0" "00004" "EYA1_000165" "g.72184105dup" "" "{DB:DVD}, {PMID:Abdelhak 1997:9020840}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271870dup" "" "pathogenic" "" "0000640757" "1" "99" "8" "72184108" "72184108" "subst" "0" "00004" "EYA1_000166" "g.72184108G>C" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271873G>C" "" "pathogenic" "" "0000640758" "1" "99" "8" "72184109" "72184116" "del" "0" "00004" "EYA1_000167" "g.72184109_72184116del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271874_71271881del" "" "pathogenic" "" "0000640759" "1" "11" "8" "72184119" "72184119" "subst" "0.00235535" "00004" "EYA1_000011" "g.72184119G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271884G>T" "" "benign" "" "0000640760" "1" "99" "8" "72184128" "72184128" "subst" "0" "00004" "EYA1_000168" "g.72184128G>T" "" "{DB:DVD}, {PMID:Rickard 2000:10991693}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71271893G>T" "" "pathogenic" "" "0000640761" "1" "99" "8" "72211282" "72211282" "subst" "0" "00004" "EYA1_000169" "g.72211282C>A" "" "{DB:DVD}, {PMID:Clarke 2006:16813606}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299047C>A" "" "pathogenic" "" "0000640762" "1" "99" "8" "72211287" "72211287" "del" "0" "00004" "EYA1_000170" "g.72211287del" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299052del" "" "pathogenic" "" "0000640763" "1" "99" "8" "72211302" "72211302" "del" "0" "00004" "EYA1_000171" "g.72211302del" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299067del" "" "pathogenic" "" "0000640764" "1" "99" "8" "72211332" "72211332" "dup" "0" "00004" "EYA1_000172" "g.72211332dup" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299097dup" "" "pathogenic" "" "0000640765" "1" "99" "8" "72211340" "72211340" "subst" "0" "00004" "EYA1_000173" "g.72211340G>T" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299105G>T" "" "pathogenic" "" "0000640766" "1" "99" "8" "72211340" "72211340" "del" "0" "00004" "EYA1_000174" "g.72211340del" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299105del" "" "pathogenic" "" "0000640767" "1" "99" "8" "72211384" "72211384" "subst" "0.0000162459" "00004" "EYA1_000175" "g.72211384T>C" "" "{DB:DVD}, {PMID:Yashima 2003:12701758}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299149T>C" "" "pathogenic" "" "0000640768" "1" "99" "8" "72211394" "72211394" "dup" "0" "00004" "EYA1_000176" "g.72211394dup" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299159dup" "" "pathogenic" "" "0000640769" "1" "99" "8" "72211430" "72211430" "subst" "0" "00004" "EYA1_000177" "g.72211430G>C" "" "{DB:DVD}, {PMID:Usami 1999:10429368}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299195G>C" "" "pathogenic" "" "0000640770" "1" "99" "8" "72211437" "72211437" "subst" "0.000113713" "00004" "EYA1_000178" "g.72211437C>A" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299202C>A" "" "pathogenic" "" "0000640771" "1" "99" "8" "72211454" "72211454" "subst" "0" "00004" "EYA1_000179" "g.72211454A>T" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299219A>T" "" "pathogenic" "" "0000640772" "1" "99" "8" "72211461" "72211461" "subst" "0.000012185" "00004" "EYA1_000180" "g.72211461G>A" "" "{DB:DVD}, {PMID:Hoskins 2008:18065799}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299226G>A" "" "pathogenic" "" "0000640773" "1" "99" "8" "72211483" "72211483" "subst" "0" "00004" "EYA1_000181" "g.72211483C>T" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299248C>T" "" "pathogenic" "" "0000640774" "1" "99" "8" "72211871" "72211871" "del" "0" "00004" "EYA1_000182" "g.72211871del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299636del" "" "pathogenic" "" "0000640775" "1" "99" "8" "72211872" "72211872" "subst" "0" "00004" "EYA1_000183" "g.72211872C>G" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299637C>G" "" "pathogenic" "" "0000640776" "1" "99" "8" "72211872" "72211872" "subst" "0" "00004" "EYA1_000184" "g.72211872C>T" "" "{DB:DVD}, {PMID:Estefanía 2006:16441263}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299637C>T" "" "pathogenic" "" "0000640777" "1" "99" "8" "72211873" "72211873" "subst" "0" "00004" "EYA1_000185" "g.72211873C>G" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299638C>G" "" "pathogenic" "" "0000640778" "1" "99" "8" "72211874" "72211874" "subst" "0" "00004" "EYA1_000186" "g.72211874T>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299639T>A" "" "pathogenic" "" "0000640779" "1" "99" "8" "72211878" "72211878" "subst" "0" "00004" "EYA1_000187" "g.72211878G>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299643G>A" "" "pathogenic" "" "0000640780" "1" "99" "8" "72211880" "72211880" "subst" "0" "00004" "EYA1_000188" "g.72211880G>C" "" "{DB:DVD}, {PMID:Uno 2004:15491396}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299645G>C" "" "pathogenic" "" "0000640781" "1" "99" "8" "72211907" "72211907" "subst" "0" "00004" "EYA1_000189" "g.72211907A>G" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299672A>G" "" "pathogenic" "" "0000640782" "1" "99" "8" "72211910" "72211910" "subst" "0" "00004" "EYA1_000190" "g.72211910G>C" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299675G>C" "" "pathogenic" "" "0000640783" "1" "99" "8" "72211914" "72211914" "dup" "0" "00004" "EYA1_000191" "g.72211914dup" "" "{DB:DVD}, {PMID:Chang 2004:15146463}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299679dup" "" "pathogenic" "" "0000640784" "1" "99" "8" "72211920" "72211920" "subst" "0" "00004" "EYA1_000192" "g.72211920C>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299685C>A" "" "pathogenic" "" "0000640785" "1" "99" "8" "72211924" "72211924" "subst" "0" "00004" "EYA1_000193" "g.72211924A>T" "" "{DB:DVD}, {PMID:Okada 2006:16491411}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299689A>T" "" "pathogenic" "" "0000640786" "1" "99" "8" "72211928" "72211929" "del" "0" "00004" "EYA1_000194" "g.72211928_72211929del" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299693_71299694del" "" "pathogenic" "" "0000640787" "1" "99" "8" "72211957" "72211957" "subst" "0" "00004" "EYA1_000012" "g.72211957T>C" "" "{DB:DVD}, {PMID:Stockley 2009:19206155}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71299722T>C" "" "pathogenic" "" "0000640788" "1" "99" "8" "72229790" "72229790" "subst" "0" "00004" "EYA1_000195" "g.72229790G>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71317555G>A" "" "pathogenic" "" "0000640789" "1" "99" "8" "72229814" "72229814" "subst" "0" "00004" "EYA1_000196" "g.72229814G>A" "" "{DB:DVD}, {PMID:Lee 2007:17049623}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71317579G>A" "" "pathogenic" "" "0000640790" "1" "99" "8" "72229856" "72229856" "dup" "0" "00004" "EYA1_000197" "g.72229856dup" "" "{DB:DVD}, {PMID:Rickard 2000:10991693}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71317621dup" "" "pathogenic" "" "0000640791" "1" "99" "8" "72229877" "72229877" "subst" "0" "00004" "EYA1_000198" "g.72229877G>A" "" "{DB:DVD}, {PMID:Wang 2012:22447252}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71317642G>A" "" "pathogenic" "" "0000640792" "1" "99" "8" "72229893" "72229894" "del" "0" "00004" "EYA1_000199" "g.72229893_72229894del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71317658_71317659del" "" "pathogenic" "" "0000640793" "1" "99" "8" "72229915" "72229915" "subst" "0" "00004" "EYA1_000200" "g.72229915C>T" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71317680C>T" "" "pathogenic" "" "0000640794" "1" "99" "8" "72233969" "72233969" "subst" "0" "00004" "EYA1_000201" "g.72233969C>T" "" "{DB:DVD}, {PMID:Krug 2011:21280147}, {PMID:Kim 2014:24590738}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321734C>T" "" "pathogenic" "" "0000640795" "1" "99" "8" "72233984" "72233991" "del" "0" "00004" "EYA1_000203" "g.72233984_72233991del" "" "{DB:DVD}, {PMID:Vincent 1997:9359046}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321749_71321756del" "" "pathogenic" "" "0000640796" "1" "99" "8" "72233984" "72233984" "subst" "0.0000569726" "00004" "EYA1_000202" "g.72233984C>T" "" "{DB:DVD}, {PMID:Miyagawa 2013:23967202}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321749C>T" "" "pathogenic" "" "0000640797" "1" "99" "8" "72233985" "72233985" "subst" "0" "00004" "EYA1_000204" "g.72233985G>T" "" "{DB:DVD}, {PMID:Orten 2008:18220287}, {PMID:Krug 2011:21280147}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321750G>T" "" "pathogenic" "" "0000640798" "1" "99" "8" "72234039" "72234039" "del" "0" "00004" "EYA1_000205" "g.72234039del" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321804del" "" "pathogenic" "" "0000640799" "1" "99" "8" "72234066" "72234066" "del" "0" "00004" "EYA1_000206" "g.72234066del" "" "{DB:DVD}, {PMID:Lee 2009:19667416}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321831del" "" "pathogenic" "" "0000640800" "1" "55" "8" "72234088" "72234088" "subst" "0.0000162501" "00004" "EYA1_000207" "g.72234088G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321853G>T" "" "VUS" "" "0000640801" "1" "99" "8" "72234104" "72234104" "subst" "0" "00004" "EYA1_000208" "g.72234104G>A" "" "{DB:DVD}, {PMID:Krug 2011:21280147}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71321869G>A" "" "pathogenic" "" "0000640802" "1" "99" "8" "72246370" "72246370" "subst" "0.000288571" "00004" "EYA1_000209" "g.72246370G>A" "" "{DB:DVD}, {PMID:Orten 2008:18220287}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71334135G>A" "" "pathogenic" "" "0000640804" "1" "55" "8" "72267034" "72267034" "subst" "0.00015837" "00004" "EYA1_000211" "g.72267034G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71354799G>A" "" "VUS" "" "0000640805" "1" "55" "8" "72267076" "72267076" "subst" "0.0000324865" "00004" "EYA1_000212" "g.72267076C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.71354841C>T" "" "VUS" "" "0000652517" "1" "70" "8" "72127640" "72127640" "subst" "0" "03575" "EYA1_000089" "g.72127640A>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397517918}" "Germline" "" "rs397517918" "0" "" "" "g.71215405A>T" "" "likely pathogenic" "" "0000652518" "1" "30" "8" "72211326" "72211326" "subst" "0.00205484" "03575" "EYA1_000051" "g.72211326G>A" "23/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous; {DB:CLININrs77825059}" "Germline" "" "rs77825059" "0" "" "" "g.71299091G>A" "" "likely benign" "" "0000652519" "1" "50" "8" "72211437" "72211437" "subst" "0.000113713" "03575" "EYA1_000178" "g.72211437C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201509408}" "Germline" "" "rs201509408" "0" "" "" "g.71299202C>A" "" "VUS" "" "0000652520" "1" "50" "8" "72246370" "72246370" "subst" "0.000288571" "03575" "EYA1_000209" "g.72246370G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs201434219}" "Germline" "" "rs201434219" "0" "" "" "g.71334135G>A" "" "VUS" "" "0000656148" "0" "10" "8" "72111658" "72111658" "subst" "0.0151642" "01943" "EYA1_000004" "g.72111658G>A" "" "" "" "EYA1(NM_000503.5):c.1699-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71199423G>A" "" "benign" "" "0000656149" "0" "30" "8" "72123430" "72123430" "subst" "0.00000812493" "01943" "EYA1_000213" "g.72123430A>G" "" "" "" "EYA1(NM_000503.5):c.1659T>C (p.V553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71211195A>G" "" "likely benign" "" "0000656150" "0" "90" "8" "72234050" "72234050" "subst" "0" "02327" "EYA1_000214" "g.72234050G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.71321815G>A" "" "pathogenic" "" "0000670020" "3" "30" "8" "72211326" "72211326" "subst" "0.00205484" "03575" "EYA1_000051" "g.72211326G>A" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs77825059}" "Germline" "" "rs77825059" "0" "" "" "g.71299091G>A" "" "likely benign" "" "0000673986" "21" "70" "8" "72234477" "72234477" "subst" "0.00000406828" "03695" "EYA1_000215" "g.72234477G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000674888" "0" "90" "8" "72109668" "72274467" "del" "0" "03388" "EYA1_000216" "g.(?_72109668)_(72274467_?)del" "" "{PMID:Razmara 2018:29511501}" "" "del ex1-18" "" "De novo" "" "" "0" "" "" "g.(?_71197433)_(71362232_?)del" "" "pathogenic (dominant)" "" "0000678432" "0" "30" "8" "72127748" "72127748" "subst" "0" "01804" "EYA1_000217" "g.72127748G>A" "" "" "" "EYA1(NM_000503.4):c.1476-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678433" "0" "50" "8" "72128932" "72128932" "subst" "0" "01943" "EYA1_000218" "g.72128932A>G" "" "" "" "EYA1(NM_000503.5):c.1355T>C (p.V452A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678434" "0" "70" "8" "72181973" "72181973" "subst" "0" "01804" "EYA1_000219" "g.72181973A>T" "" "" "" "EYA1(NM_000503.4):c.1050+2T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678435" "0" "30" "8" "72184069" "72184069" "subst" "0.000125898" "01943" "EYA1_000220" "g.72184069C>T" "" "" "" "EYA1(NM_000503.5):c.890G>A (p.R297Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678436" "0" "30" "8" "72211460" "72211460" "subst" "0.000223372" "01943" "EYA1_000221" "g.72211460C>T" "" "" "" "EYA1(NM_000503.5):c.648G>A (p.P216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678437" "0" "90" "8" "72229812" "72229812" "del" "0" "02327" "EYA1_000222" "g.72229812del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678438" "0" "50" "8" "72246370" "72246370" "subst" "0.000288571" "01943" "EYA1_000209" "g.72246370G>A" "" "" "" "EYA1(NM_000503.5):c.164C>T (p.T55M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722085" "0" "30" "8" "72129098" "72129098" "subst" "0.000402658" "02326" "EYA1_000223" "g.72129098G>T" "" "" "" "EYA1(NM_000503.5):c.1200-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722086" "0" "90" "8" "72184079" "72184079" "subst" "0" "02329" "EYA1_000050" "g.72184079G>A" "" "" "" "EYA1(NM_001370335.1):c.880C>T (p.R294*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722087" "0" "30" "8" "72184119" "72184119" "subst" "0.00235535" "02326" "EYA1_000011" "g.72184119G>T" "" "" "" "EYA1(NM_000503.5):c.840C>A (p.I280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722088" "0" "90" "8" "72211470" "72211470" "subst" "0" "01943" "EYA1_000224" "g.72211470T>G" "" "" "" "EYA1(NM_000503.5):c.640-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803740" "0" "50" "8" "72211407" "72211407" "subst" "0.00000406144" "02325" "EYA1_000225" "g.72211407G>A" "" "" "" "EYA1(NM_000503.6):c.701C>T (p.P234L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803741" "0" "90" "8" "72229865" "72229865" "subst" "0" "02327" "EYA1_000226" "g.72229865G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803742" "0" "30" "8" "72246387" "72246387" "subst" "0.0001382" "01943" "EYA1_000227" "g.72246387G>A" "" "" "" "EYA1(NM_000503.5):c.147C>T (p.S49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000847349" "1" "30" "8" "72267034" "72267034" "subst" "0.00015837" "04221" "EYA1_000211" "g.72267034G>A" "1/49 patients" "{PMID:Estandia-Ortega 2022:36362878}" "TfiI+,MlyI-, PleI-" "" "ACMG BS2, BP6, PP2" "Germline/De novo (untested)" "?" "rs727503048" "0" "" "" "g.71354799G>A" "VCV000163440.7" "likely benign" "ACMG" "0000851992" "0" "30" "8" "72211325" "72211325" "subst" "0.00018681" "02326" "EYA1_000229" "g.72211325C>T" "" "" "" "EYA1(NM_000503.5):c.783G>A (p.P261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851993" "0" "50" "8" "72267106" "72267106" "subst" "0.000227406" "02325" "MUTYH_000595" "g.72267106C>T" "" "" "" "EYA1(NM_000503.6):c.35G>A (p.R12H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861286" "0" "90" "8" "72123477" "72123480" "dup" "0" "02327" "EYA1_000228" "g.72123477_72123480dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888448" "0" "10" "8" "72123506" "72123506" "subst" "0.000999674" "02326" "EYA1_000230" "g.72123506T>C" "" "" "" "EYA1(NM_000503.5):c.1598-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888449" "0" "30" "8" "72127864" "72127864" "subst" "0.000735695" "02326" "EYA1_000001" "g.72127864G>A" "" "" "" "EYA1(NM_000503.5):c.1460C>T (p.S487L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888450" "0" "90" "8" "72156836" "72156836" "subst" "0" "02326" "EYA1_000231" "g.72156836A>G" "" "" "" "EYA1(NM_000503.5):c.1140+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888451" "0" "30" "8" "72184069" "72184069" "subst" "0.000125898" "02326" "EYA1_000220" "g.72184069C>T" "" "" "" "EYA1(NM_000503.5):c.890G>A (p.R297Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888452" "0" "30" "8" "72211303" "72211303" "subst" "0" "02327" "EYA1_000232" "g.72211303C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888453" "0" "50" "8" "72211953" "72211953" "subst" "0" "02325" "EYA1_000233" "g.72211953T>C" "" "" "" "EYA1(NM_000503.6):c.559A>G (p.S187G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909355" "20" "90" "8" "72129001" "72129001" "subst" "0" "04147" "EYA1_000122" "g.72129001T>C" "" "{PMID:Yalcouye 2022:35698919}" "" "" "" "Germline" "yes" "" "0" "" "" "g.71216766T>C" "" "pathogenic (dominant)" "ACMG" "0000912988" "0" "30" "8" "72111663" "72111663" "subst" "0.000793954" "02326" "EYA1_000045" "g.72111663A>G" "" "" "" "EYA1(NM_000503.5):c.1699-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912989" "0" "10" "8" "72129273" "72129273" "subst" "0.00280253" "02326" "EYA1_000234" "g.72129273A>C" "" "" "" "EYA1(NM_000503.5):c.1141-15T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924904" "0" "30" "8" "72211882" "72211882" "subst" "0.0000895372" "02326" "EYA1_000235" "g.72211882A>G" "" "" "" "EYA1(NM_000503.5):c.630T>C (p.S210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924905" "0" "30" "8" "72246337" "72246337" "subst" "0.0000162604" "02327" "EYA1_000236" "g.72246337C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929476" "0" "30" "8" "72211364" "72211364" "subst" "0.00120222" "02326" "EYA1_000053" "g.72211364C>T" "" "" "" "EYA1(NM_000503.5):c.744G>A (p.T248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929477" "0" "50" "8" "72267016" "72267016" "subst" "0" "02327" "EYA1_000237" "g.72267016C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929478" "0" "30" "8" "72268693" "72268693" "subst" "0" "02325" "EYA1_000238" "g.72268693T>G" "" "" "" "EYA1(NM_000503.6):c.-5+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949117" "0" "70" "8" "72211441" "72211441" "subst" "0" "02327" "EYA1_000239" "g.72211441G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000972019" "0" "50" "8" "72129019" "72129019" "subst" "0.0000081279" "04656" "EYA1_000240" "g.72129019C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.71216784C>G" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes EYA1 ## Count = 268 "{{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}}" "0000021283" "00025538" "70" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ser487Leu)" "" "0000021286" "00025538" "70" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ser487Leu)" "" "0000223241" "00025538" "90" "1436" "0" "1436" "0" "c.1436T>A" "r.(?)" "p.(Leu479*)" "" "0000247852" "00025538" "10" "1755" "0" "1755" "0" "c.1755T>C" "r.(?)" "p.(His585=)" "18" "0000250634" "00025538" "10" "1755" "0" "1755" "0" "c.1755T>C" "r.(?)" "p.(His585=)" "18" "0000251431" "00025538" "10" "1597" "18" "1597" "18" "c.1597+18T>C" "r.(=)" "p.(=)" "16i" "0000252986" "00025538" "10" "1755" "0" "1755" "0" "c.1755T>C" "r.(?)" "p.(His585=)" "18" "0000254277" "00025538" "30" "321" "0" "321" "0" "c.321T>C" "r.(?)" "p.(Ala107=)" "" "0000267923" "00025538" "10" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Gly426=)" "" "0000271271" "00025538" "10" "1699" "-3" "1699" "-3" "c.1699-3C>T" "r.spl?" "p.?" "17i" "0000271272" "00025538" "90" "557" "-2" "557" "-2" "c.557-2A>G" "r.spl?" "p.?" "" "0000271273" "00025538" "10" "58" "0" "58" "0" "c.58C>G" "r.(?)" "p.(Pro20Ala)" "" "0000276457" "00025538" "30" "1050" "0" "1050" "0" "c.1050G>A" "r.(?)" "p.(Arg350=)" "" "0000276458" "00025538" "10" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Gly426=)" "" "0000276459" "00025538" "50" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ser487Leu)" "" "0000276460" "00025538" "10" "1476" "-21" "1476" "-21" "c.1476-21G>T" "r.(=)" "p.(=)" "15i" "0000276461" "00025538" "50" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ala53Val)" "" "0000276462" "00025538" "10" "1699" "-23" "1699" "-23" "c.1699-23A>G" "r.(=)" "p.(=)" "17i" "0000276463" "00025538" "30" "840" "0" "840" "0" "c.840C>A" "r.(?)" "p.(Ile280=)" "" "0000332173" "00025538" "30" "865" "0" "865" "0" "c.865G>T" "r.(?)" "p.(Asp289Tyr)" "" "0000332174" "00025538" "50" "556" "8" "556" "8" "c.556+8T>A" "r.(=)" "p.(=)" "" "0000332175" "00025538" "50" "434" "0" "434" "0" "c.434G>A" "r.(?)" "p.(Gly145Asp)" "" "0000338661" "00025538" "10" "1597" "18" "1597" "18" "c.1597+18T>C" "r.(=)" "p.(=)" "16i" "0000338663" "00025538" "90" "966" "5" "966" "5" "c.966+5G>A" "r.spl?" "p.?" "" "0000338664" "00025538" "10" "556" "18" "556" "18" "c.556+18G>T" "r.(=)" "p.(=)" "" "0000340404" "00025538" "10" "1755" "0" "1755" "0" "c.1755T>C" "r.(?)" "p.(His585=)" "18" "0000340405" "00025538" "10" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Gly426=)" "" "0000341477" "00025538" "50" "1523" "0" "1523" "0" "c.1523C>T" "r.(?)" "p.(Ala508Val)" "16" "0000342599" "00025538" "90" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308Ter)" "" "0000342728" "00025538" "90" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Ter)" "" "0000342904" "00025538" "90" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000344807" "00025538" "90" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.(Gln384Ter)" "" "0000345638" "00025538" "70" "319" "0" "319" "0" "c.319G>A" "r.(?)" "p.(Ala107Thr)" "" "0000347239" "00025538" "90" "1748" "0" "1748" "0" "c.1748T>G" "r.(?)" "p.(Leu583Arg)" "18" "0000349049" "00025538" "90" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Ser487Pro)" "" "0000349078" "00025538" "50" "1582" "0" "1582" "0" "c.1582A>C" "r.(?)" "p.(Ser528Arg)" "16" "0000349401" "00025538" "10" "813" "0" "813" "0" "c.813A>G" "r.(?)" "p.(Thr271=)" "" "0000349777" "00025538" "90" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Trp327Ter)" "" "0000349802" "00025538" "90" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Trp430Ter)" "" "0000349901" "00025538" "90" "381" "0" "381" "0" "c.381C>A" "r.(?)" "p.(Tyr127Ter)" "" "0000351353" "00025538" "90" "1476" "-2" "1476" "-2" "c.1476-2A>G" "r.spl?" "p.?" "15i" "0000351354" "00025538" "90" "1141" "-2" "1141" "-2" "c.1141-2A>G" "r.spl?" "p.?" "" "0000368848" "00025538" "90" "1122" "0" "1122" "0" "c.1122del" "r.(?)" "p.(Leu374Phefs*6)" "" "0000535299" "00025538" "90" "1716" "0" "1716" "0" "c.1716G>A" "r.(?)" "p.(Trp572Ter)" "18" "0000535301" "00025538" "10" "1699" "-3" "1699" "-3" "c.1699-3C>T" "r.spl?" "p.?" "17i" "0000535302" "00025538" "30" "1699" "-8" "1699" "-8" "c.1699-8T>C" "r.(=)" "p.(=)" "17i" "0000535303" "00025538" "30" "1647" "0" "1647" "0" "c.1647G>A" "r.(?)" "p.(Val549=)" "17" "0000535304" "00025538" "50" "1489" "0" "1489" "0" "c.1489A>G" "r.(?)" "p.(Asn497Asp)" "16" "0000535305" "00025538" "90" "1189" "0" "1189" "0" "c.1189C>T" "r.(?)" "p.(Gln397Ter)" "" "0000535306" "00025538" "90" "1029" "0" "1029" "0" "c.1029del" "r.(?)" "p.(Tyr344ThrfsTer22)" "" "0000535308" "00025538" "30" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Pro261Leu)" "" "0000535309" "00025538" "30" "771" "0" "771" "0" "c.771G>A" "r.(?)" "p.(Gln257=)" "" "0000535310" "00025538" "10" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(Thr248=)" "" "0000535311" "00025538" "90" "619" "0" "622" "0" "c.619_622del" "r.(?)" "p.(Gly207LeufsTer33)" "" "0000535312" "00025538" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Ala121Thr)" "" "0000535313" "00025538" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Gln86Ter)" "" "0000640637" "00025538" "99" "1779" "0" "1779" "0" "c.1779A>C" "r.(?)" "p.(*593Tyrext*6)" "18" "0000640638" "00025538" "99" "1777" "0" "1777" "0" "c.1777T>C" "r.(?)" "p.(*593Glnext*6)" "18" "0000640639" "00025538" "99" "1773" "0" "1773" "0" "c.1773C>G" "r.(?)" "p.(Tyr591Ter)" "18" "0000640640" "00025538" "99" "1766" "0" "1766" "0" "c.1766dup" "r.(?)" "p.(Glu590GlyfsTer42)" "18" "0000640641" "00025538" "99" "1754" "0" "1754" "0" "c.1754dup" "r.(?)" "p.(His585GlnfsTer47)" "18" "0000640642" "00025538" "99" "1748" "0" "1748" "0" "c.1748T>C" "r.(?)" "p.(Leu583Pro)" "18" "0000640643" "00025538" "99" "1735" "0" "1735" "0" "c.1735del" "r.(?)" "p.(Asp579ThrfsTer60)" "18" "0000640644" "00025538" "99" "1733" "0" "1733" "0" "c.1733C>T" "r.(?)" "p.(Ser578Leu)" "18" "0000640645" "00025538" "99" "1716" "0" "1716" "0" "c.1716G>A" "r.(?)" "p.(Trp572*)" "18" "0000640646" "00025538" "99" "1706" "0" "1706" "0" "c.1706T>C" "r.(?)" "p.(Met569Thr)" "18" "0000640647" "00025538" "99" "1698" "5" "1698" "5" "c.1698+5G>C" "r.spl?" "p.?" "17i" "0000640648" "00025538" "99" "1698" "0" "1698" "1" "c.1698_1698+1insT" "r.spl?" "p.?" "17_17i" "0000640649" "00025538" "99" "1698" "1" "1698" "1" "c.1698+1G>T" "r.spl?" "p.?" "17i" "0000640650" "00025538" "99" "1697" "0" "1698" "0" "c.1697_1698insT" "r.spl?" "p.(Lys566AsnfsTer66)" "17" "0000640651" "00025538" "99" "1695" "0" "1698" "0" "c.1695_1698del" "r.spl?" "p.(Lys565AsnfsTer73)" "17" "0000640652" "00025538" "99" "1697" "0" "1697" "0" "c.1697dup" "r.(?)" "p.(His567AlafsTer65)" "17" "0000640653" "00025538" "99" "1691" "0" "1691" "0" "c.1691del" "r.(?)" "p.(Ala564GlufsTer75)" "17" "0000640654" "00025538" "99" "1656" "0" "1659" "0" "c.1656_1659dup" "r.(?)" "p.(Ile554CysfsTer79)" "17" "0000640655" "00025538" "99" "1657" "0" "1659" "0" "c.1657_1659del" "r.(?)" "p.(Val553del)" "17" "0000640656" "00025538" "99" "1653" "0" "1653" "0" "c.1653T>G" "r.(?)" "p.(Tyr551*)" "17" "0000640657" "00025538" "99" "1649" "0" "1649" "0" "c.1649T>A" "r.(?)" "p.(Val550Glu)" "17" "0000640658" "00025538" "99" "1641" "0" "1645" "0" "c.1641_1645del" "r.(?)" "p.(Arg547SerfsTer83)" "17" "0000640659" "00025538" "99" "1644" "0" "1644" "0" "c.1644del" "r.(?)" "p.(Val549TrpfsTer6)" "17" "0000640660" "00025538" "99" "1639" "0" "1639" "0" "c.1639A>G" "r.(?)" "p.(Arg547Gly)" "17" "0000640661" "00025538" "99" "1612" "0" "1615" "0" "c.1612_1615dup" "r.(?)" "p.(Glu539ValfsTer2)" "17" "0000640662" "00025538" "99" "1603" "0" "1607" "0" "c.1603_1607del" "r.(?)" "p.(Glu535LeufsTer3)" "17" "0000640663" "00025538" "99" "1604" "0" "1607" "0" "c.1604_1607del" "r.(?)" "p.(Glu535AlafsTer6)" "17" "0000640664" "00025538" "99" "1598" "-1" "1598" "-1" "c.1598-1G>A" "r.spl?" "p.?" "16i" "0000640665" "00025538" "99" "1598" "-2" "1598" "-2" "c.1598-2A>C" "r.spl?" "p.?" "16i" "0000640666" "00025538" "99" "1597" "2" "1597" "2" "c.1597+2T>G" "r.spl?" "p.?" "16i" "0000640667" "00025538" "99" "1597" "0" "1597" "0" "c.1597G>A" "r.spl?" "p.(Gly533Arg)" "16" "0000640668" "00025538" "99" "1591" "0" "1591" "0" "c.1591A>T" "r.(?)" "p.(Lys531*)" "16" "0000640669" "00025538" "99" "1580" "0" "1580" "0" "c.1580A>G" "r.(?)" "p.(Tyr527Cys)" "16" "0000640670" "00025538" "99" "1579" "0" "1579" "0" "c.1579T>A" "r.(?)" "p.(Tyr527Asn)" "16" "0000640671" "00025538" "99" "1570" "0" "1570" "0" "c.1570G>T" "r.(?)" "p.(Glu524Ter)" "16" "0000640672" "00025538" "99" "1541" "0" "1541" "0" "c.1541T>C" "r.(?)" "p.(Leu514Pro)" "16" "0000640673" "00025538" "99" "1538" "0" "1538" "0" "c.1538T>C" "r.(?)" "p.(Leu513Pro)" "16" "0000640674" "00025538" "99" "1534" "0" "1534" "0" "c.1534G>T" "r.(?)" "p.(Val512Phe)" "16" "0000640675" "00025538" "99" "1533" "0" "1533" "0" "c.1533dup" "r.(?)" "p.(Val512SerfsTer20)" "16" "0000640676" "00025538" "99" "1524" "0" "1524" "0" "c.1524del" "r.(?)" "p.(Leu509TrpfsTer9)" "16" "0000640677" "00025538" "99" "1514" "0" "1514" "0" "c.1514T>G" "r.(?)" "p.(Leu505Arg)" "16" "0000640678" "00025538" "99" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Gln504Ter)" "16" "0000640679" "00025538" "99" "1501" "0" "1507" "0" "c.1501_1507del" "r.(?)" "p.(Thr501LeufsTer15)" "16" "0000640680" "00025538" "99" "1496" "0" "1496" "0" "c.1496del" "r.(?)" "p.(Leu499Ter)" "16" "0000640681" "00025538" "99" "1496" "0" "1496" "0" "c.1496dup" "r.(?)" "p.(Leu499PhefsTer33)" "16" "0000640682" "00025538" "99" "1487" "0" "1488" "0" "c.1487_1488del" "r.(?)" "p.(Val496GlufsTer35)" "16" "0000640683" "00025538" "99" "1476" "-2" "1476" "-2" "c.1476-2A>G" "r.spl" "p.?" "15i" "0000640684" "00025538" "99" "1475" "1" "1475" "1" "c.1475+1G>A" "r.spl" "p.?" "15i" "0000640685" "00025538" "99" "1475" "1" "1475" "1" "c.1475+1G>C" "r.spl" "p.?" "15i" "0000640686" "00025538" "99" "1475" "0" "1475" "0" "c.1475G>C" "r.spl?" "p.(Arg492Pro)" "" "0000640687" "00025538" "99" "1471" "0" "1474" "0" "c.1471_1474dup" "r.(?)" "p.(Arg492LeufsTer41)" "" "0000640688" "00025538" "99" "1474" "0" "1474" "0" "c.1474dup" "r.(?)" "p.(Arg492ProfsTer40)" "" "0000640689" "00025538" "99" "1471" "0" "1471" "0" "c.1471delinsAGAGAC" "r.(?)" "p.(Ser491ArgfsTer8)" "" "0000640690" "00025538" "99" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Ser487Pro)" "" "0000640691" "00025538" "99" "1458" "0" "1458" "0" "c.1458dup" "r.(?)" "p.(Ser487LeufsTer45)" "" "0000640692" "00025538" "33" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Thr475=)" "" "0000640693" "00025538" "99" "1405" "0" "1405" "0" "c.1405del" "r.(?)" "p.(Ala469ProfsTer6)" "" "0000640694" "00025538" "55" "1402" "0" "1402" "0" "c.1402A>G" "r.(?)" "p.(Arg468Gly)" "" "0000640695" "00025538" "99" "1400" "0" "1400" "0" "c.1400T>A" "r.(?)" "p.(Leu467Gln)" "" "0000640696" "00025538" "99" "1377" "0" "1378" "0" "c.1377_1378delinsAT" "r.(?)" "p.(Met459_Ala460delinsIleSer)" "" "0000640697" "00025538" "99" "1361" "-1" "1361" "-1" "c.1361-1G>T" "r.spl?" "p.?" "" "0000640698" "00025538" "99" "1360" "5" "1360" "5" "c.1360+5G>A" "r.spl?" "p.?" "" "0000640699" "00025538" "55" "1360" "2" "1360" "2" "c.1360+2C>T" "r.spl?" "p.?" "" "0000640700" "00025538" "99" "1350" "0" "1350" "0" "c.1350delinsCC" "r.(?)" "p.(Trp450Cysfs*60)" "" "0000640701" "00025538" "99" "1330" "0" "1331" "0" "c.1330_1331dup" "r.(?)" "p.(His445Serfs*73)" "" "0000640702" "00025538" "99" "1325" "0" "1326" "0" "c.1325_1326del" "r.(?)" "p.(Lys442ArgfsTer9)" "" "0000640703" "00025538" "99" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Arg440Gln)" "" "0000640704" "00025538" "99" "1315" "0" "1318" "0" "c.1315_1318dup" "r.(?)" "p.(Arg440GlnfsTer13)" "" "0000640705" "00025538" "55" "1295" "0" "1295" "0" "c.1295G>A" "r.(?)" "p.(Arg432Lys)" "" "0000640706" "00025538" "99" "1286" "0" "1286" "0" "c.1286A>G" "r.(?)" "p.(Tyr429Cys)" "" "0000640707" "00025538" "99" "1280" "0" "1281" "0" "c.1280_1281insGGG" "r.(?)" "p.(Gly427dup)" "" "0000640708" "00025538" "99" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Ser)" "" "0000640709" "00025538" "99" "1268" "0" "1268" "0" "c.1268del" "r.(?)" "p.(Gly423ValfsTer9)" "" "0000640710" "00025538" "99" "1213" "0" "1213" "0" "c.1213G>A" "r.(?)" "p.(Gly405Arg)" "" "0000640711" "00025538" "99" "1206" "0" "1206" "0" "c.1206T>A" "r.(?)" "p.(Tyr402*)" "" "0000640712" "00025538" "33" "1199" "13" "1199" "13" "c.1199+13G>T" "r.spl?" "p.(=)" "" "0000640713" "00025538" "99" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl?" "p.?" "" "0000640714" "00025538" "55" "1186" "0" "1186" "0" "c.1186G>A" "r.(?)" "p.(Gly396Arg)" "" "0000640715" "00025538" "33" "1185" "0" "1185" "0" "c.1185C>T" "r.(?)" "p.(Asn395=)" "" "0000640716" "00025538" "99" "1156" "0" "1156" "0" "c.1156del" "r.(?)" "p.(His386IlefsTer2)" "" "0000640717" "00025538" "99" "1141" "-1" "1141" "-1" "c.1141-1G>A" "r.spl?" "p.?" "" "0000640718" "00025538" "99" "1141" "-2" "1141" "-2" "c.1141-2dup" "r.spl?" "p.?" "" "0000640719" "00025538" "99" "1138" "0" "1140" "1" "c.1138_1140+1inv" "r.spl?" "p.?" "" "0000640720" "00025538" "99" "1140" "1" "1140" "1" "c.1140+1G>A" "r.spl?" "p.?" "" "0000640721" "00025538" "99" "1140" "1" "1140" "1" "c.1140+1G>T" "r.spl?" "p.?" "" "0000640722" "00025538" "99" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Glu380*)" "" "0000640723" "00025538" "99" "1122" "0" "1122" "0" "c.1122del" "r.(?)" "p.(Asn375Ilefs*3)" "" "0000640724" "00025538" "99" "1118" "0" "1119" "0" "c.1118_1119del" "r.(?)" "p.(Val374Glufs*35)" "" "0000640725" "00025538" "55" "1107" "0" "1107" "0" "c.1107G>T" "r.(?)" "p.(Leu369Phe)" "" "0000640726" "00025538" "99" "1088" "0" "1088" "0" "c.1088A>T" "r.(?)" "p.(Glu363Val)" "" "0000640727" "00025538" "99" "1087" "0" "1087" "0" "c.1087G>A" "r.(?)" "p.(Ala363Thr)" "" "0000640728" "00025538" "99" "1081" "0" "1081" "0" "c.1081C>T" "r.(?)" "p.(Arg361Ter)" "" "0000640729" "00025538" "99" "1051" "0" "1051" "0" "c.1051G>T" "r.(?)" "p.(Ala351Ser)" "" "0000640730" "00025538" "99" "1051" "-1" "1051" "-1" "c.1051-1G>C" "r.spl?" "p.?" "" "0000640731" "00025538" "99" "1051" "-2" "1051" "-2" "c.1051-2A>G" "r.spl?" "p.?" "" "0000640732" "00025538" "99" "1051" "-12" "1051" "-12" "c.1051-12T>G" "r.spl?" "p.(=)" "" "0000640733" "00025538" "99" "1050" "1" "1050" "1" "c.1050+1G>C" "r.spl?" "p.?" "" "0000640734" "00025538" "99" "1050" "1" "1050" "1" "c.1050+1G>T" "r.spl?" "p.?" "" "0000640735" "00025538" "99" "1048" "0" "1050" "1" "c.1048_1050+1del" "r.(?)" "p.(Arg350IlefsTer15)" "" "0000640736" "00025538" "99" "1029" "0" "1029" "0" "c.1029del" "r.(?)" "p.(Tyr344ThrfsTer22)" "" "0000640737" "00025538" "99" "1016" "0" "1016" "0" "c.1016delinsAG" "r.(?)" "p.(Arg339Lysfs*12)" "" "0000640738" "00025538" "99" "976" "0" "983" "0" "c.976_983dup" "r.(?)" "p.(Asn329Thrfs*20)" "" "0000640739" "00025538" "99" "977" "0" "977" "0" "c.977T>A" "r.(?)" "p.(Ile326Asn)" "" "0000640740" "00025538" "99" "972" "0" "973" "0" "c.972_973dup" "r.(?)" "p.(Phe325CysfsTer42)" "" "0000640741" "00025538" "99" "967" "-1" "967" "-1" "c.967-1G>A" "r.spl?" "p.?" "" "0000640742" "00025538" "99" "967" "-2" "967" "-2" "c.967-2A>G" "r.spl?" "p.?" "" "0000640743" "00025538" "99" "966" "0" "966" "14" "c.966_966+14del" "r.spl?" "p.?" "" "0000640744" "00025538" "99" "966" "5" "966" "5" "c.966+5G>A" "r.spl?" "p.?" "" "0000640745" "00025538" "99" "966" "1" "966" "1" "c.966+1G>A" "r.spl?" "p.?" "" "0000640746" "00025538" "99" "965" "0" "965" "0" "c.965A>G" "r.(?)" "p.(Glu322Gly)" "" "0000640747" "00025538" "99" "922" "0" "922" "0" "c.922C>T" "r.(?)" "p.(Arg308*)" "" "0000640748" "00025538" "99" "920" "0" "920" "0" "c.920del" "r.(?)" "p.(Gly307AlafsTer59)" "" "0000640749" "00025538" "99" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297*)" "" "0000640750" "00025538" "99" "882" "0" "882" "0" "c.882del" "r.(?)" "p.(Asn295Thrfs*15)" "" "0000640751" "00025538" "99" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294*)" "" "0000640752" "00025538" "99" "875" "0" "875" "0" "c.875dup" "r.(?)" "p.(Ser293Glnfs*3)" "" "0000640753" "00025538" "99" "866" "0" "866" "0" "c.866del" "r.(?)" "p.(Ala289Valfs*21)" "" "0000640754" "00025538" "99" "865" "0" "865" "0" "c.865G>T" "r.(?)" "p.(Ala289Ser)" "" "0000640755" "00025538" "99" "863" "0" "866" "0" "c.863_866del" "r.(?)" "p.(Lys288IlefsTer77)" "" "0000640756" "00025538" "99" "854" "0" "854" "0" "c.854dup" "r.(?)" "p.(Asp285Glufs*11)" "" "0000640757" "00025538" "99" "851" "0" "851" "0" "c.851C>G" "r.(?)" "p.(Thr284Arg)" "" "0000640758" "00025538" "99" "845" "0" "852" "0" "c.845_852del" "r.(?)" "p.(Ser282AsnfsTer4)" "" "0000640759" "00025538" "11" "840" "0" "840" "0" "c.840C>A" "r.(?)" "p.(Ile280=)" "" "0000640760" "00025538" "99" "831" "0" "831" "0" "c.831C>A" "r.(?)" "p.(Tyr277*)" "" "0000640761" "00025538" "99" "826" "0" "826" "0" "c.826G>T" "r.(?)" "p.(Asp276Tyr)" "" "0000640762" "00025538" "99" "821" "0" "821" "0" "c.821del" "r.(?)" "p.(Gly274Aspfs*4)" "" "0000640763" "00025538" "99" "806" "0" "806" "0" "c.806del" "r.(?)" "p.(Ser269Phefs*9)" "" "0000640764" "00025538" "99" "777" "0" "777" "0" "c.777dup" "r.(?)" "p.(Glu260ArgfsTer29)" "" "0000640765" "00025538" "99" "768" "0" "768" "0" "c.768C>A" "r.(?)" "p.(Asp256Glu)" "" "0000640766" "00025538" "99" "769" "0" "769" "0" "c.769del" "r.(?)" "p.(Gln257SerfsTer109)" "" "0000640767" "00025538" "99" "724" "0" "724" "0" "c.724A>G" "r.(?)" "p.(Ser242Gly)" "" "0000640768" "00025538" "99" "715" "0" "715" "0" "c.715dup" "r.(?)" "p.(Tyr239LeufsTer50)" "" "0000640769" "00025538" "99" "678" "0" "678" "0" "c.678C>G" "r.(?)" "p.(Tyr226*)" "" "0000640770" "00025538" "99" "671" "0" "671" "0" "c.671G>T" "r.(?)" "p.(Gly224Val)" "" "0000640771" "00025538" "99" "654" "0" "654" "0" "c.654T>A" "r.(?)" "p.(Tyr218Ter)" "" "0000640772" "00025538" "99" "647" "0" "647" "0" "c.647C>T" "r.(?)" "p.(Ser216Phe)" "" "0000640773" "00025538" "99" "640" "-15" "640" "-15" "c.640-15G>A" "r.spl?" "p.(=)" "" "0000640774" "00025538" "99" "639" "2" "639" "2" "c.639+2del" "r.spl?" "p.?" "" "0000640775" "00025538" "99" "639" "1" "639" "1" "c.639+1G>C" "r.spl?" "p.?" "" "0000640776" "00025538" "99" "639" "1" "639" "1" "c.639+1G>A" "r.spl?" "p.?" "" "0000640777" "00025538" "99" "639" "0" "639" "0" "c.639G>C" "r.(?)" "p.(Gln213His)" "" "0000640778" "00025538" "99" "638" "0" "638" "0" "c.638A>T" "r.(?)" "p.(Gln213Leu)" "" "0000640779" "00025538" "99" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Gln212*)" "" "0000640780" "00025538" "99" "632" "0" "632" "0" "c.632C>G" "r.(?)" "p.(Ser211*)" "" "0000640781" "00025538" "99" "605" "0" "605" "0" "c.605T>C" "r.(?)" "p.(Val202Ala)" "" "0000640782" "00025538" "99" "602" "0" "602" "0" "c.602C>G" "r.(?)" "p.(Ser201*)" "" "0000640783" "00025538" "99" "599" "0" "599" "0" "c.599dup" "r.(?)" "p.(Asn200LysfsTer10)" "" "0000640784" "00025538" "99" "592" "0" "592" "0" "c.592G>T" "r.(?)" "p.(Asp198Tyr)" "" "0000640785" "00025538" "99" "588" "0" "588" "0" "c.588T>A" "r.(?)" "p.(Asp196Glu)" "" "0000640786" "00025538" "99" "588" "0" "589" "0" "c.588_589del" "r.(?)" "p.(Thr197ArgfsTer3)" "" "0000640787" "00025538" "99" "557" "-2" "557" "-2" "c.557-2A>G" "r.spl?" "p.?" "" "0000640788" "00025538" "99" "553" "0" "553" "0" "c.553C>T" "r.(?)" "p.(Gln185*)" "" "0000640789" "00025538" "99" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Gln177*)" "" "0000640790" "00025538" "99" "489" "0" "489" "0" "c.489dup" "r.(?)" "p.(Leu164SerfsTer24)" "" "0000640791" "00025538" "99" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Gln156*)" "" "0000640792" "00025538" "99" "450" "0" "451" "0" "c.450_451del" "r.(?)" "p.(Gly151IlefsTer36)" "" "0000640793" "00025538" "99" "428" "0" "428" "0" "c.428G>A" "r.(?)" "p.(Trp143*)" "" "0000640794" "00025538" "99" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Ser)" "" "0000640795" "00025538" "99" "398" "0" "405" "0" "c.398_405del" "r.(?)" "p.(Pro133HisfsTer14)" "" "0000640796" "00025538" "99" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Gly135Ser)" "" "0000640797" "00025538" "99" "402" "0" "402" "0" "c.402C>A" "r.(?)" "p.(Tyr134*)" "" "0000640798" "00025538" "99" "348" "0" "348" "0" "c.348del" "r.(?)" "p.(Tyr117Ilefs*2)" "" "0000640799" "00025538" "99" "321" "0" "321" "0" "c.321del" "r.(?)" "p.(Tyr108Ilefs*11)" "" "0000640800" "00025538" "55" "299" "0" "299" "0" "c.299C>A" "r.(?)" "p.(Thr100Asn)" "" "0000640801" "00025538" "99" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Pro95Ser)" "" "0000640802" "00025538" "99" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Met)" "" "0000640804" "00025538" "55" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Pro36Leu)" "" "0000640805" "00025538" "55" "65" "0" "65" "0" "c.65G>A" "r.(?)" "p.(Gly22Asp)" "" "0000652517" "00025538" "70" "1579" "0" "1579" "0" "c.1579T>A" "r.(?)" "p.(Tyr527Asn)" "" "0000652518" "00025538" "30" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Pro261Leu)" "" "0000652519" "00025538" "50" "671" "0" "671" "0" "c.671G>T" "r.(?)" "p.(Gly224Val)" "" "0000652520" "00025538" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Met)" "" "0000656148" "00025538" "10" "1699" "-3" "1699" "-3" "c.1699-3C>T" "r.spl?" "p.?" "17i" "0000656149" "00025538" "30" "1659" "0" "1659" "0" "c.1659T>C" "r.(?)" "p.(Val553=)" "17" "0000656150" "00025538" "90" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Gln113Ter)" "" "0000670020" "00025538" "30" "782" "0" "782" "0" "c.782C>T" "r.(?)" "p.(Pro261Leu)" "" "0000673986" "00025538" "70" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Arg77*)" "" "0000674888" "00025538" "90" "0" "0" "0" "0" "c.-640_*1907{0}" "r.0?" "p.0?" "_1_18_" "0000678432" "00025538" "30" "1476" "-5" "1476" "-5" "c.1476-5C>T" "r.spl?" "p.?" "" "0000678433" "00025538" "50" "1355" "0" "1355" "0" "c.1355T>C" "r.(?)" "p.(Val452Ala)" "" "0000678434" "00025538" "70" "1050" "2" "1050" "2" "c.1050+2T>A" "r.spl?" "p.?" "" "0000678435" "00025538" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000678436" "00025538" "30" "648" "0" "648" "0" "c.648G>A" "r.(?)" "p.(Pro216=)" "" "0000678437" "00025538" "90" "532" "0" "532" "0" "c.532del" "r.(?)" "p.(Ala178HisfsTer63)" "" "0000678438" "00025538" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Met)" "" "0000722085" "00025538" "30" "1200" "-11" "1200" "-11" "c.1200-11C>A" "r.(=)" "p.(=)" "" "0000722086" "00025538" "90" "880" "0" "880" "0" "c.880C>T" "r.(?)" "p.(Arg294Ter)" "" "0000722087" "00025538" "30" "840" "0" "840" "0" "c.840C>A" "r.(?)" "p.(Ile280=)" "" "0000722088" "00025538" "90" "640" "-2" "640" "-2" "c.640-2A>C" "r.spl?" "p.?" "" "0000803740" "00025538" "50" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Pro234Leu)" "" "0000803741" "00025538" "90" "478" "0" "478" "0" "c.478C>T" "r.(?)" "p.(Gln160*)" "" "0000803742" "00025538" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Ser49=)" "" "0000847349" "00025538" "30" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Thr36Ile)" "3" "0000851992" "00025538" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000851993" "00025538" "50" "35" "0" "35" "0" "c.35G>A" "r.(?)" "p.(Arg12His)" "" "0000861286" "00025538" "90" "1610" "0" "1613" "0" "c.1610_1613dup" "r.(?)" "p.(Phe538Leufs*3)" "" "0000888448" "00025538" "10" "1598" "-15" "1598" "-15" "c.1598-15A>G" "r.(=)" "p.(=)" "" "0000888449" "00025538" "30" "1460" "0" "1460" "0" "c.1460C>T" "r.(?)" "p.(Ser487Leu)" "" "0000888450" "00025538" "90" "1140" "2" "1140" "2" "c.1140+2T>C" "r.spl?" "p.?" "" "0000888451" "00025538" "30" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297Gln)" "" "0000888452" "00025538" "30" "805" "0" "805" "0" "c.805G>A" "r.(?)" "p.(Ala269Thr)" "" "0000888453" "00025538" "50" "559" "0" "559" "0" "c.559A>G" "r.(?)" "p.(Ser187Gly)" "" "0000909355" "00025538" "90" "1286" "0" "1286" "0" "c.1286A>G" "r.(?)" "p.(Asp429Gly)" "" "0000912988" "00025538" "30" "1699" "-8" "1699" "-8" "c.1699-8T>C" "r.(=)" "p.(=)" "" "0000912989" "00025538" "10" "1141" "-15" "1141" "-15" "c.1141-15T>G" "r.(=)" "p.(=)" "" "0000924904" "00025538" "30" "630" "0" "630" "0" "c.630T>C" "r.(?)" "p.(Ser210=)" "" "0000924905" "00025538" "30" "197" "0" "197" "0" "c.197G>T" "r.(?)" "p.(Gly66Val)" "" "0000929476" "00025538" "30" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(Thr248=)" "" "0000929477" "00025538" "50" "124" "1" "124" "1" "c.124+1G>A" "r.spl?" "p.?" "" "0000929478" "00025538" "30" "-5" "4" "-5" "4" "c.-5+4A>C" "r.spl?" "p.?" "" "0000949117" "00025538" "70" "667" "0" "667" "0" "c.667C>T" "r.(?)" "p.(Gln223*)" "" "0000972019" "00025538" "50" "1268" "0" "1268" "0" "c.1268G>C" "r.(?)" "p.(Gly423Ala)" "14" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 182 "{{screeningid}}" "{{variantid}}" "0000002910" "0000021283" "0000002913" "0000021286" "0000133813" "0000223241" "0000165205" "0000368848" "0000284895" "0000640637" "0000284896" "0000640638" "0000284897" "0000640639" "0000284898" "0000640640" "0000284899" "0000640641" "0000284900" "0000640642" "0000284901" "0000640643" "0000284902" "0000640644" "0000284903" "0000640645" "0000284904" "0000640646" "0000284905" "0000640647" "0000284906" "0000640648" "0000284907" "0000640649" "0000284908" "0000640650" "0000284909" "0000640651" "0000284910" "0000640652" "0000284911" "0000640653" "0000284912" "0000640654" "0000284913" "0000640655" "0000284914" "0000640656" "0000284915" "0000640657" "0000284916" "0000640658" "0000284917" "0000640659" "0000284918" "0000640660" "0000284919" "0000640661" "0000284920" "0000640662" "0000284921" "0000640663" "0000284922" "0000640664" "0000284923" "0000640665" "0000284924" "0000640666" "0000284925" "0000640667" "0000284926" "0000640668" "0000284927" "0000640669" "0000284928" "0000640670" "0000284929" "0000640671" "0000284930" "0000640672" "0000284931" "0000640673" "0000284932" "0000640674" "0000284933" "0000640675" "0000284934" "0000640676" "0000284935" "0000640677" "0000284936" "0000640678" "0000284937" "0000640679" "0000284938" "0000640680" "0000284939" "0000640681" "0000284940" "0000640682" "0000284941" "0000640683" "0000284942" "0000640684" "0000284943" "0000640685" "0000284944" "0000640686" "0000284945" "0000640687" "0000284946" "0000640688" "0000284947" "0000640689" "0000284948" "0000640690" "0000284949" "0000640691" "0000284950" "0000640692" "0000284951" "0000640693" "0000284952" "0000640694" "0000284953" "0000640695" "0000284954" "0000640696" "0000284955" "0000640697" "0000284956" "0000640698" "0000284957" "0000640699" "0000284958" "0000640700" "0000284959" "0000640701" "0000284960" "0000640702" "0000284961" "0000640703" "0000284962" "0000640704" "0000284963" "0000640705" "0000284964" "0000640706" "0000284965" "0000640707" "0000284966" "0000640708" "0000284967" "0000640709" "0000284968" "0000640710" "0000284969" "0000640711" "0000284970" "0000640712" "0000284971" "0000640713" "0000284972" "0000640714" "0000284973" "0000640715" "0000284974" "0000640716" "0000284975" "0000640717" "0000284976" "0000640718" "0000284977" "0000640719" "0000284978" "0000640720" "0000284979" "0000640721" "0000284980" "0000640722" "0000284981" "0000640723" "0000284982" "0000640724" "0000284983" "0000640725" "0000284984" "0000640726" "0000284985" "0000640727" "0000284986" "0000640728" "0000284987" "0000640729" "0000284988" "0000640730" "0000284989" "0000640731" "0000284990" "0000640732" "0000284991" "0000640733" "0000284992" "0000640734" "0000284993" "0000640735" "0000284994" "0000640736" "0000284995" "0000640737" "0000284996" "0000640738" "0000284997" "0000640739" "0000284998" "0000640740" "0000284999" "0000640741" "0000285000" "0000640742" "0000285001" "0000640743" "0000285002" "0000640744" "0000285003" "0000640745" "0000285004" "0000640746" "0000285005" "0000640747" "0000285006" "0000640748" "0000285007" "0000640749" "0000285008" "0000640750" "0000285009" "0000640751" "0000285010" "0000640752" "0000285011" "0000640753" "0000285012" "0000640754" "0000285013" "0000640755" "0000285014" "0000640756" "0000285015" "0000640757" "0000285016" "0000640758" "0000285017" "0000640759" "0000285018" "0000640760" "0000285019" "0000640761" "0000285020" "0000640762" "0000285021" "0000640763" "0000285022" "0000640764" "0000285023" "0000640765" "0000285024" "0000640766" "0000285025" "0000640767" "0000285026" "0000640768" "0000285027" "0000640769" "0000285028" "0000640770" "0000285029" "0000640771" "0000285030" "0000640772" "0000285031" "0000640773" "0000285032" "0000640774" "0000285033" "0000640775" "0000285034" "0000640776" "0000285035" "0000640777" "0000285036" "0000640778" "0000285037" "0000640779" "0000285038" "0000640780" "0000285039" "0000640781" "0000285040" "0000640782" "0000285041" "0000640783" "0000285042" "0000640784" "0000285043" "0000640785" "0000285044" "0000640786" "0000285045" "0000640787" "0000285046" "0000640788" "0000285047" "0000640789" "0000285048" "0000640790" "0000285049" "0000640791" "0000285050" "0000640792" "0000285051" "0000640793" "0000285052" "0000640794" "0000285053" "0000640795" "0000285054" "0000640796" "0000285055" "0000640797" "0000285056" "0000640798" "0000285057" "0000640799" "0000285058" "0000640800" "0000285059" "0000640801" "0000285060" "0000640802" "0000285062" "0000640804" "0000285063" "0000640805" "0000295828" "0000652517" "0000295829" "0000652518" "0000295830" "0000652519" "0000295831" "0000652520" "0000306332" "0000670020" "0000307359" "0000673986" "0000308049" "0000674888" "0000410097" "0000847349" "0000429739" "0000909355" "0000450087" "0000972019"