### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CLRN1) # 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}}" "CLRN1" "clarin 1" "3" "q21-q25" "unknown" "NG_009168.1" "UD_132085348394" "{PMID:Roux 2011:21436283}" "https://www.LOVD.nl/CLRN1" "USMA (Usher Syndrome Missense Analysis) \r\nDeafness Variation Database \r\nMoBiDiC " "1" "12605" "7401" "606397" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the CLRN1 database using: www.LOVD.nl/CLRN1
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
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/CLRN1_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2010-03-02 00:00:00" "00110" "2018-07-20 14:29:10" "00001" "2025-04-11 14:07:58" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025298" "CLRN1" "transcript variant 1" "001" "NM_174878.2" "" "NP_777367.1" "" "" "" "-291" "2068" "699" "150690786" "150644354" "00006" "2018-07-12 14:39:40" "" "" "00025402" "CLRN1" "transcript variant 5" "002" "NM_001195794.1" "" "NP_001182723.1" "" "" "" "-291" "2107" "738" "150690786" "150644354" "00008" "2019-05-03 20:49:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00894" "USH3A" "Usher syndrome, type 3A (USH-3A)" "AR" "276902" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00895" "RP61" "retinitis pigmentosa, type 61 (RP61)" "" "614180" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56" "02115" "USH1" "Usher syndrome, type I (USH-1)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-11 13:56:28" "02116" "USH2A" "Usher syndrome,, type 2A (USH2A)" "AR" "276901" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05414" "USH2" "Usher syndrome, type II (USH-2)" "" "" "" "" "" "00006" "2018-04-02 14:40:34" "00006" "2021-12-11 13:56:28" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05459" "USH3" "Usher syndrome, type III (USH-3)" "" "" "" "" "" "00006" "2018-07-12 10:56:37" "00006" "2021-12-11 13:56:28" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CLRN1" "00894" "CLRN1" "00895" "CLRN1" "05415" "CLRN1" "05459" ## Individuals ## Do not remove or alter this header ## ## Count = 292 "{{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}}" "00011117" "" "" "" "1" "" "00585" "" "" "" "?" "Belgium" "" "" "" "" "" "" "00155416" "" "" "" "1" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00155417" "" "" "" "3" "" "01243" "Sharon, submitted" "" "F" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00155418" "" "" "" "1" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Beduin" "" "00165985" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007:17407589}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00165986" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007(2):17893653}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00165987" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007(2):17893653}" "Relative" "M" "" "Germany" "" "0" "" "" "" "" "00165988" "" "" "" "1" "" "02416" "{PMID:Ebermann 2007(2):17893653}" "Relative" "M" "" "Germany" "" "0" "" "" "" "" "00165989" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "M" "" "Finland" "" "0" "" "" "" "" "00165990" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Relative" "M" "" "Finland" "" "0" "" "" "" "" "00165991" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00165992" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Relative" "" "" "Finland" "" "0" "" "" "" "" "00165993" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00165994" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00165995" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00165996" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00165997" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00165998" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00165999" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166000" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166001" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166002" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166003" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166004" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166005" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166006" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166007" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166008" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166009" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166010" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166011" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166012" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166013" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166014" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166015" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166016" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166017" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166018" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166019" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166020" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166021" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166022" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166023" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166024" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166025" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166026" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166027" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166028" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166029" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166030" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166031" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166032" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166033" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166034" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166035" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166036" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166037" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166038" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166039" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166040" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166041" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166042" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166043" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166044" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166045" "" "" "" "1" "" "02416" "{PMID:Joensuu 2001:11524702}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00166046" "" "" "" "1" "" "02416" "{PMID:Plantinga 2005:15650299}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166047" "" "" "" "1" "" "02416" "{PMID:Plantinga 2005:15650299}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166048" "" "" "" "1" "" "02416" "{PMID:Plantinga 2005:15650299}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166049" "" "" "" "1" "" "02416" "" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00166050" "" "" "" "1" "" "02416" "{PMID:Isosomppi 2009:19753315}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00166051" "" "" "" "1" "" "02416" "{PMID:Isosomppi 2009:19753315}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166052" "" "" "" "1" "" "02416" "{PMID:Isosomppi 2009:19753315}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00166053" "" "" "" "1" "" "02416" "{PMID:Isosomppi 2009:19753315}" "Proband" "" "" "Canada" "" "0" "" "" "" "" "00166054" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166055" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166056" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166057" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Relative" "M" "" "" "" "0" "" "" "" "" "00166058" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166059" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166060" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00166061" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Relative" "F" "" "Spain" "" "0" "" "" "" "" "00166062" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Relative" "M" "" "Spain" "" "0" "" "" "" "" "00166063" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Proband" "M" "" "Yemen" "" "0" "" "" "" "" "00166064" "" "" "" "1" "" "02416" "{PMID:Adato 2002:12080385}" "Relative" "M" "" "Yemen" "" "0" "" "" "" "" "00166065" "" "" "" "1" "" "02416" "{PMID:Aller 2004:15521980}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00166066" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166067" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166068" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "M" "" "Sweden" "" "0" "" "" "" "" "00166069" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "M" "" "Sweden" "" "0" "" "" "" "" "00166070" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Proband" "M" "" "Sweden" "" "0" "" "" "" "" "00166071" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Proband" "F" "" "Sweden" "" "0" "" "" "" "" "00166072" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "M" "" "Sweden" "" "0" "" "" "" "" "00166073" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "F" "" "Sweden" "" "0" "" "" "" "" "00166074" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "F" "" "Sweden" "" "0" "" "" "" "" "00166075" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Proband" "F" "" "Sweden" "" "0" "" "" "" "" "00166076" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "M" "" "Sweden" "" "0" "" "" "" "" "00166077" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Proband" "M" "" "Sweden" "" "0" "" "" "" "" "00166078" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "F" "" "Sweden" "" "0" "" "" "" "" "00166079" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "F" "" "Sweden" "" "0" "" "" "" "" "00166080" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Proband" "F" "" "Sweden" "" "0" "" "" "" "" "00166081" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Proband" "F" "" "Sweden" "" "0" "" "" "" "" "00166082" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "M" "" "Sweden" "" "0" "" "" "" "" "00166083" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00166084" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00166085" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166086" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166087" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166088" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166089" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166090" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166091" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166092" "" "" "" "1" "" "02416" "{PMID:Sadeghi 2005:16028794}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166093" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166094" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Relative" "M" "" "United States" "" "0" "" "" "" "" "00166095" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166096" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Relative" "F" "" "United States" "" "0" "" "" "" "" "00166097" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "M" "" "United States" "" "0" "" "" "" "" "00166098" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "Sweden" "" "0" "" "" "" "" "00166099" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "F" "" "United States" "" "0" "" "" "" "" "00166100" "" "" "" "1" "" "02416" "{PMID:Fields 2002:12145752}" "Proband" "" "" "United States" "" "0" "" "" "" "" "00166101" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166102" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166103" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166104" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166105" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166106" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166107" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166108" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Relative" "M" "" "" "" "0" "" "" "" "" "00166109" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166110" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166111" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166112" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166113" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166114" "" "" "" "1" "" "02416" "{PMID:Ness 2003:14569126}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166115" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166116" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166117" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166118" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166119" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166120" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166121" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166122" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Relative" "M" "" "" "" "0" "" "" "" "" "00166123" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166124" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166125" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "F" "" "" "" "0" "" "" "" "" "00166126" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Relative" "F" "" "" "" "0" "" "" "" "" "00166127" "" "" "" "1" "" "02416" "{PMID:Herrera 2008:18281613}" "Proband" "M" "" "" "" "0" "" "" "" "" "00166536" "" "" "" "1" "" "02416" "{PMID:Akoury 2011:21675857}" "Proband - intra-familial variability: patient CA0100300051 has an USH1-compatible phenotype, while his brother CA0100300071 has an USH3." "M" "" "Lebanon" "" "0" "" "" "" "" "00166537" "" "" "" "1" "" "02416" "{PMID:Akoury 2011:21675857}" "Relative - intra-familial variability: patient CA0100300051 has an USH1-compatible phenotype, while his brother CA0100300071 has an USH3." "M" "" "Lebanon" "" "0" "" "" "" "" "00166538" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166539" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166540" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166541" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166542" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166543" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Proband" "M" "" "Pakistan" "" "0" "" "" "" "" "00166544" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166545" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166546" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166547" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "M" "" "Pakistan" "" "0" "" "" "" "" "00166548" "" "" "" "1" "" "02416" "{PMID:Khan 2011:21310491}" "Relative" "F" "" "Pakistan" "" "0" "" "" "" "" "00166599" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166602" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166609" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166612" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166628" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166640" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166642" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166646" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166671" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166684" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166689" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166702" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166705" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00166750" "" "" "" "1" "" "02419" "{PMID:Le Quesne Stabej 2012:22135276}" "Proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00167048" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2012:22681893}" "Proband" "F" "" "Finland" "" "0" "" "" "" "" "00167049" "" "" "" "1" "" "02416" "{PMID:Vastinsalo 2012:22681893}" "Proband" "" "" "Finland" "" "0" "" "" "" "" "00167052" "" "" "" "1" "" "02416" "{PMID:Ratnam 2012:22964989}" "Proband" "M" "" "Finland" "" "0" "" "" "" "" "00167053" "" "" "" "1" "" "02416" "{PMID:Ratnam 2012:22964989}" "Proband" "F" "" "Finland" "" "0" "" "" "" "" "00167054" "" "" "" "1" "" "02416" "{PMID:Ratnam 2012:22964989}" "Proband" "F" "" "Finland" "" "0" "" "" "" "" "00167055" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "M" "" "" "" "0" "" "" "" "" "00167125" "" "" "" "1" "" "02416" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "Proband" "" "" "Spain" "" "0" "" "" "" "" "00167126" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2012:23304067}" "Probadn" "F" "" "Spain" "" "0" "" "" "" "" "00167127" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2012:23304067}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167128" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2012:23304067}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167129" "" "" "" "1" "" "02416" "{PMID:Garcia-Garcia 2012:23304067}" "Proband" "M" "" "Spain" "" "0" "" "" "" "" "00167151" "" "" "" "1" "" "02416" "{PMID:Glöcke 2013:23591405}" "Proband" "" "" "" "" "0" "" "" "" "" "00167662" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167664" "" "" "" "1" "" "02416" "{PMID:Licastro 2012:22952768}" "Proband" "" "" "Italy" "" "0" "" "" "" "" "00167764" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167768" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proband" "F" "" "China" "" "0" "" "" "" "" "00167769" "" "" "" "1" "" "02416" "{PMID:Jiang 2015:26338283}" "Proabnd" "F" "" "China" "" "0" "" "" "" "" "00167819" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167820" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167821" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167822" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167823" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00167824" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167825" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "Germany" "" "0" "" "" "" "" "00167826" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "Germany" "" "0" "" "" "" "" "00167827" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "" "" "France" "" "0" "" "" "" "" "00167828" "" "" "" "1" "" "02428" "{PMID:Bonnet 2016:27460420}" "Proband" "M" "" "France" "" "0" "" "" "" "" "00232453" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232454" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232455" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232456" "" "" "" "513" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232457" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232458" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232459" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232460" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232461" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232462" "" "" "" "17" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232463" "" "" "" "13" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233659" "" "" "" "107" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233660" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240432" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00293249" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293250" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308789" "" "" "" "4" "" "00004" "{PMID:Santana 2019:31231422}" "3-generation family, 4 affected (F, 3M), unaffected parents" "" "yes" "Cuba" "" "0" "" "" "white" "FamUS-8" "00308793" "" "" "" "1" "" "00004" "{PMID:Santana 2019:31231422}" "2-generation family, 1 affected (M), unaffected parents" "M" "yes" "Cuba" "" "0" "" "" "white" "FamUS-12" "00309051" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309052" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309053" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309054" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309055" "" "" "" "15" "" "00004" "{PMID:Sharon 2019:31456290}" "15 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00325468" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "3436" "00327921" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240033" "00332500" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat25" "00334025" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "544" "00335101" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "1929" "00335223" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/39" "00335947" "" "" "" "1" "" "00000" "{PMID:Dad 2016:27957503}" "" "F" "yes" "Syria" "" "0" "" "" "" "USH3-1" "00359113" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13003075" "00359182" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13018110" "00359257" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13002679" "00361819" "" "" "" "2" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat37" "00363222" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "yes" "Lebanon" "" "0" "" "" "" "Pat95" "00372655" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP296" "00372707" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP160" "00372712" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP234" "00373845" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp76" "00374953" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "H9-1" "00375424" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#018" "00376305" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376306" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" "" "00379523" "" "" "" "1" "" "00000" "{PMID:Foote-2019:10480356}" "" "F" "" "United States" "" "0" "" "" "" "" "00380140" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "13DG1314" "00380996" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00382241" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "70" "00382518" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "380" "00383070" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00383098" "" "" "" "1" "" "00000" "{PMID:Anasagasti-2013:24416769}" "" "" "" "Spain" "" "0" "" "" "" "" "00384606" "" "" "" "1" "" "00000" "{PMID:Jaffal 2019:31888296}" "" "F" "no" "Lebanon" "" "0" "" "" "" "FD10: III.3" "00385139" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "12" "00385143" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "17" "00385733" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "?" "China" "" "0" "" "" "" "164" "00385780" "" "" "" "1" "" "00000" "{PMID:Abu-Ameerh 2020:31968401}" "Family 1B" "M" "yes" "Jordan" "" "0" "" "" "" "F1-B_IV-16" "00385781" "" "" "" "1" "" "00000" "{PMID:Abu-Ameerh 2020:31968401}" "Family 1B" "M" "yes" "Jordan" "" "0" "" "" "" "F1-B_IV-17" "00385782" "" "" "" "1" "" "00000" "{PMID:Abu-Ameerh 2020:31968401}" "Family 1B" "M" "yes" "Jordan" "" "0" "" "" "" "F1-B_IV-18" "00385783" "" "" "" "1" "" "00000" "{PMID:Abu-Ameerh 2020:31968401}" "Family 1B" "F" "yes" "Jordan" "" "0" "" "" "" "F1-B_IV-19" "00385784" "" "" "" "1" "" "00000" "{PMID:Abu-Ameerh 2020:31968401}" "Family 2" "F" "no" "Jordan" "" "0" "" "" "" "F2_II-3" "00385785" "" "" "" "1" "" "00000" "{PMID:Abu-Ameerh 2020:31968401}" "Family 2" "F" "no" "Jordan" "" "0" "" "" "" "F2_II-6" "00386182" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-139, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-296" "00386796" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2952_004537" "00387129" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "155" "00387130" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "156" "00387146" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "F" "" "" "" "0" "" "" "" "" "00387206" "" "" "" "1" "" "02416" "{PMID:Mansard et al, 2021:34948090}" "" "M" "" "" "" "0" "" "" "" "" "00393957" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00393958" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00393959" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00393960" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00393961" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00393962" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00393963" "" "" "" "1" "" "00000" "{PMID:Khalaileh-2018:29490346}" "" "" "yes" "" "" "0" "" "" "Jewish-Ashkenazi" "" "00396338" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396339" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396340" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396341" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396342" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396343" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00396344" "" "" "" "1" "" "00000" "{PMID:Wafa 2021:33089500}" "" "" "" "United States" "" "0" "" "" "" "" "00408432" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "20" "00408433" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "21" "00408914" "" "" "" "1" "" "00000" "{PMID:Khan-2017:28469144}" "" "M" "yes" "" "" "0" "" "" "Saudi Arabian" "Fam1:II-1" "00408915" "" "" "" "1" "" "00000" "{PMID:Khan-2017:28469144}" "" "M" "yes" "" "" "0" "" "" "Saudi Arabian" "Fam1:II-2" "00408916" "" "" "" "1" "" "00000" "{PMID:Khan-2017:28469144}" "" "F" "yes" "" "" "0" "" "" "Saudi Arabian" "Fam1:II-3" "00408917" "" "" "" "1" "" "00000" "{PMID:Khan-2017:28469144}" "" "F" "yes" "" "" "0" "" "" "Saudi Arabian" "Fam1:II-4" "00408918" "" "" "" "2" "" "00000" "{PMID:Khan-2017:28469144}" "" "" "" "" "" "0" "" "" "Saudi Arabian" "USH-KSA1/USH-KSA2" "00429661" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429916" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00447402" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "USHI-53" "00447442" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHII-364" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 292 "{{individualid}}" "{{diseaseid}}" "00011117" "00318" "00155416" "00894" "00155417" "00894" "00155418" "00894" "00165985" "02115" "00165986" "05459" "00165987" "05459" "00165988" "05459" "00165989" "05459" "00165990" "05459" "00165991" "05459" "00165992" "05459" "00165993" "05459" "00165994" "05459" "00165995" "05459" "00165996" "05459" "00165997" "05459" "00165998" "05459" "00165999" "05459" "00166000" "05459" "00166001" "05459" "00166002" "05459" "00166003" "05459" "00166004" "05459" "00166005" "05459" "00166006" "05459" "00166007" "05459" "00166008" "05459" "00166009" "05459" "00166010" "05459" "00166011" "05459" "00166012" "05459" "00166013" "05459" "00166014" "05459" "00166015" "05459" "00166016" "05459" "00166017" "05459" "00166018" "05459" "00166019" "05459" "00166020" "05459" "00166021" "05459" "00166022" "05459" "00166023" "05459" "00166024" "05459" "00166025" "05459" "00166026" "05459" "00166027" "05459" "00166028" "05459" "00166029" "05459" "00166030" "05459" "00166031" "05459" "00166032" "05459" "00166033" "05459" "00166034" "05459" "00166035" "05459" "00166036" "05459" "00166037" "05459" "00166038" "05459" "00166039" "05459" "00166040" "05459" "00166041" "05459" "00166042" "05459" "00166043" "05459" "00166044" "05459" "00166045" "05459" "00166046" "05459" "00166047" "05459" "00166048" "05459" "00166049" "05459" "00166050" "05459" "00166051" "05459" "00166052" "05459" "00166053" "05459" "00166054" "05459" "00166055" "05459" "00166056" "05459" "00166057" "05459" "00166058" "05459" "00166059" "05459" "00166060" "05459" "00166061" "05459" "00166062" "05459" "00166063" "05459" "00166064" "05459" "00166065" "05459" "00166066" "05459" "00166067" "05459" "00166068" "05459" "00166069" "05459" "00166070" "05459" "00166071" "05459" "00166072" "05459" "00166073" "05459" "00166074" "05459" "00166075" "05459" "00166076" "05459" "00166077" "05459" "00166078" "05459" "00166079" "05459" "00166080" "05459" "00166081" "05459" "00166082" "05459" "00166083" "05459" "00166084" "05459" "00166085" "05459" "00166086" "05459" "00166087" "05459" "00166088" "05459" "00166089" "05459" "00166090" "05459" "00166091" "05459" "00166092" "05459" "00166093" "05459" "00166094" "05459" "00166095" "05459" "00166096" "05459" "00166097" "05459" "00166098" "05459" "00166099" "05459" "00166100" "05459" "00166101" "05459" "00166102" "05459" "00166103" "05459" "00166104" "05459" "00166105" "05459" "00166106" "05459" "00166107" "05459" "00166108" "05459" "00166109" "05459" "00166110" "05459" "00166111" "05459" "00166112" "05459" "00166113" "05459" "00166114" "05459" "00166115" "05459" "00166116" "05459" "00166117" "04211" "00166118" "05459" "00166119" "05459" "00166120" "05459" "00166121" "05459" "00166122" "05459" "00166123" "05459" "00166124" "05459" "00166125" "05459" "00166126" "05459" "00166127" "05459" "00166536" "05459" "00166537" "05459" "00166538" "04211" "00166539" "04211" "00166540" "04211" "00166541" "04211" "00166542" "04211" "00166543" "04211" "00166544" "04211" "00166545" "04211" "00166546" "04211" "00166547" "04211" "00166548" "04211" "00166599" "05414" "00166602" "05459" "00166609" "02115" "00166612" "05459" "00166628" "02115" "00166640" "02115" "00166642" "05414" "00166646" "05414" "00166671" "05414" "00166684" "05414" "00166689" "05414" "00166702" "05414" "00166705" "05414" "00166750" "05414" "00167048" "05459" "00167049" "05459" "00167052" "05459" "00167053" "05459" "00167054" "05459" "00167055" "02115" "00167125" "05414" "00167126" "05459" "00167127" "05459" "00167128" "05459" "00167129" "05459" "00167151" "05459" "00167662" "02115" "00167664" "05459" "00167764" "02115" "00167768" "05414" "00167769" "05414" "00167819" "05414" "00167820" "05414" "00167821" "05414" "00167822" "05414" "00167823" "05414" "00167824" "05414" "00167825" "05414" "00167826" "05414" "00167827" "05414" "00167828" "05414" "00232453" "04214" "00232454" "04214" "00232455" "04214" "00232456" "04214" "00232457" "04214" "00232458" "04214" "00232459" "04214" "00232460" "04214" "00232461" "04214" "00232462" "04214" "00232463" "04214" "00233659" "04214" "00233660" "04214" "00240432" "00381" "00293249" "00198" "00293250" "00198" "00308789" "05415" "00308793" "05415" "00309051" "04214" "00309052" "04214" "00309053" "04214" "00309054" "04214" "00309055" "04214" "00325468" "04214" "00327921" "04214" "00332500" "04214" "00334025" "04214" "00335101" "00198" "00335223" "04214" "00335947" "04214" "00359113" "04214" "00359182" "04214" "00359257" "04214" "00361819" "05415" "00363222" "05415" "00372655" "04214" "00372707" "04214" "00372712" "04214" "00373845" "04214" "00374953" "04214" "00375424" "04214" "00376305" "04214" "00376306" "04214" "00379523" "04214" "00380140" "04214" "00380996" "04214" "00382241" "04214" "00382518" "04214" "00383070" "04214" "00383098" "04214" "00384606" "04214" "00385139" "04214" "00385143" "04214" "00385733" "04214" "00385780" "04214" "00385781" "04214" "00385782" "04214" "00385783" "04214" "00385784" "04214" "00385785" "04214" "00386182" "04214" "00386796" "04214" "00387129" "04214" "00387130" "04214" "00387146" "02116" "00387206" "02116" "00393957" "04214" "00393958" "04214" "00393959" "04214" "00393960" "04214" "00393961" "04214" "00393962" "04214" "00393963" "04214" "00396338" "04214" "00396339" "04214" "00396340" "04214" "00396341" "04214" "00396342" "04214" "00396343" "04214" "00396344" "04214" "00408432" "04214" "00408433" "04214" "00408914" "04214" "00408915" "04214" "00408916" "04214" "00408917" "04214" "00408918" "04214" "00429661" "04214" "00429916" "04214" "00447402" "00198" "00447442" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 00381, 00894, 00895, 02115, 02116, 04211, 04214, 05414, 05415, 05459 ## Count = 274 "{{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}}" "0000009818" "00318" "00011117" "00585" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000127916" "00894" "00155416" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000127917" "00894" "00155417" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000127918" "00894" "00155418" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130849" "02115" "00165985" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130850" "05459" "00165986" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130851" "05459" "00165987" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130852" "05459" "00165988" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130853" "05459" "00165989" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130854" "05459" "00165990" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130855" "05459" "00165991" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130856" "05459" "00165992" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130857" "05459" "00165993" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130858" "05459" "00165994" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130859" "05459" "00165995" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130860" "05459" "00165996" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130861" "05459" "00165997" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130862" "05459" "00165998" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130863" "05459" "00165999" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130864" "05459" "00166000" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130865" "05459" "00166001" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130866" "05459" "00166002" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130867" "05459" "00166003" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130868" "05459" "00166004" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130869" "05459" "00166005" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130870" "05459" "00166006" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130871" "05459" "00166007" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130872" "05459" "00166008" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130873" "05459" "00166009" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130874" "05459" "00166010" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130875" "05459" "00166011" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130876" "05459" "00166012" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130877" "05459" "00166013" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130878" "05459" "00166014" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130879" "05459" "00166015" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130880" "05459" "00166016" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130881" "05459" "00166017" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130882" "05459" "00166018" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130883" "05459" "00166019" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130884" "05459" "00166020" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130885" "05459" "00166021" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130886" "05459" "00166022" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130887" "05459" "00166023" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130888" "05459" "00166024" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130889" "05459" "00166025" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130890" "05459" "00166026" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130891" "05459" "00166027" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130892" "05459" "00166028" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130893" "05459" "00166029" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130894" "05459" "00166030" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130895" "05459" "00166031" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130896" "05459" "00166032" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130897" "05459" "00166033" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130898" "05459" "00166034" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130899" "05459" "00166035" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130900" "05459" "00166036" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130901" "05459" "00166037" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130902" "05459" "00166038" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130903" "05459" "00166039" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130904" "05459" "00166040" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130905" "05459" "00166041" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130906" "05459" "00166042" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130907" "05459" "00166043" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130908" "05459" "00166044" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130909" "05459" "00166045" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130910" "05459" "00166046" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130911" "05459" "00166047" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130912" "05459" "00166048" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130913" "05459" "00166049" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130914" "05459" "00166050" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130915" "05459" "00166051" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130916" "05459" "00166052" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130917" "05459" "00166053" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130918" "05459" "00166054" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130919" "05459" "00166055" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130920" "05459" "00166056" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130921" "05459" "00166057" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130922" "05459" "00166058" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130923" "05459" "00166059" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130924" "05459" "00166060" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130925" "05459" "00166061" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130926" "05459" "00166062" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130927" "05459" "00166063" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130928" "05459" "00166064" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130929" "05459" "00166065" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130930" "05459" "00166066" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130931" "05459" "00166067" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130932" "05459" "00166068" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130933" "05459" "00166069" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130934" "05459" "00166070" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130935" "05459" "00166071" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130936" "05459" "00166072" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130937" "05459" "00166073" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130938" "05459" "00166074" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130939" "05459" "00166075" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130940" "05459" "00166076" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130941" "05459" "00166077" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130942" "05459" "00166078" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130943" "05459" "00166079" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130944" "05459" "00166080" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130945" "05459" "00166081" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130946" "05459" "00166082" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130947" "05459" "00166083" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130948" "05459" "00166084" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130949" "05459" "00166085" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130950" "05459" "00166086" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130951" "05459" "00166087" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130952" "05459" "00166088" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130953" "05459" "00166089" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130954" "05459" "00166090" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130955" "05459" "00166091" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130956" "05459" "00166092" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130957" "05459" "00166093" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130958" "05459" "00166094" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130959" "05459" "00166095" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130960" "05459" "00166096" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130961" "05459" "00166097" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130962" "05459" "00166098" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130963" "05459" "00166099" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130964" "05459" "00166100" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130965" "05459" "00166101" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130966" "05459" "00166102" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130967" "05459" "00166103" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130968" "05459" "00166104" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130969" "05459" "00166105" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130970" "05459" "00166106" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130971" "05459" "00166107" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130972" "05459" "00166108" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130973" "05459" "00166109" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130974" "05459" "00166110" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130975" "05459" "00166111" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130976" "05459" "00166112" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130977" "05459" "00166113" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130978" "05459" "00166114" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130979" "05459" "00166115" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130980" "05459" "00166116" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130981" "04211" "00166117" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000130982" "05459" "00166118" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130983" "05459" "00166119" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130984" "05459" "00166120" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130985" "05459" "00166121" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130986" "05459" "00166122" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130987" "05459" "00166123" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130988" "05459" "00166124" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130989" "05459" "00166125" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130990" "05459" "00166126" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000130991" "05459" "00166127" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131400" "05459" "00166536" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131401" "05459" "00166537" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131402" "04211" "00166538" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131403" "04211" "00166539" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131404" "04211" "00166540" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131405" "04211" "00166541" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131406" "04211" "00166542" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131407" "04211" "00166543" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131408" "04211" "00166544" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131409" "04211" "00166545" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131410" "04211" "00166546" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131411" "04211" "00166547" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131412" "04211" "00166548" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000131463" "05414" "00166599" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131466" "05459" "00166602" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131473" "02115" "00166609" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131476" "05459" "00166612" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131492" "02115" "00166628" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131504" "02115" "00166640" "02419" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131506" "05414" "00166642" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131510" "05414" "00166646" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131535" "05414" "00166671" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131548" "05414" "00166684" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131553" "05414" "00166689" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131566" "05414" "00166702" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131569" "05414" "00166705" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131614" "05414" "00166750" "02419" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131912" "05459" "00167048" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131913" "05459" "00167049" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131916" "05459" "00167052" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131917" "05459" "00167053" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131918" "05459" "00167054" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131919" "02115" "00167055" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131989" "05414" "00167125" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131990" "05459" "00167126" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131991" "05459" "00167127" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131992" "05459" "00167128" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000131993" "05459" "00167129" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132015" "05459" "00167151" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132526" "02115" "00167662" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132528" "05459" "00167664" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132628" "02115" "00167764" "02416" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132632" "05414" "00167768" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132633" "05414" "00167769" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132683" "05414" "00167819" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132684" "05414" "00167820" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132685" "05414" "00167821" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132686" "05414" "00167822" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132687" "05414" "00167823" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132688" "05414" "00167824" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132689" "05414" "00167825" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132690" "05414" "00167826" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132691" "05414" "00167827" "02428" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000132692" "05414" "00167828" "02428" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000234111" "05415" "00308789" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH?" "" "0000234115" "05415" "00308793" "00004" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "USH?" "" "0000234371" "04214" "00309051" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type III" "" "0000234372" "04214" "00309052" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type III" "" "0000234373" "04214" "00309053" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type III" "" "0000234374" "04214" "00309054" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type III" "" "0000234375" "04214" "00309055" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type III" "" "0000243955" "04214" "00325468" "00006" "Familial, autosomal recessive" "" "syndromic retinal dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246148" "04214" "00327921" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000250684" "04214" "00332500" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252210" "04214" "00334025" "00000" "Familial, autosomal recessive" "67y" "clinical category IB1b" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000252816" "00198" "00335101" "00000" "Unknown" "" "Usher syndrome; 15y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252938" "04214" "00335223" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000253848" "04214" "00335947" "00000" "Familial, autosomal recessive" "" "congenital night blindness; macula edema; no cataract; congenital severe to profound hearing impairment" "" "" "" "" "" "" "" "" "" "Usher syndrome, type III" "" "0000254410" "04214" "00359113" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254479" "04214" "00359182" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254554" "04214" "00359257" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000257214" "05415" "00361819" "02404" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000258587" "05415" "00363222" "00000" "Familial, autosomal recessive" "13y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000267934" "04214" "00372655" "00000" "Familial, autosomal recessive" "26y" "see paper; ..." "11y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267986" "04214" "00372707" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267991" "04214" "00372712" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269054" "04214" "00373845" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270163" "04214" "00374953" "00000" "Familial, autosomal recessive" "47y" "best corrected visual acuity 0.08/0.08" "33y" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000270638" "04214" "00375424" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271513" "04214" "00376305" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome.type.3" "" "0000271514" "04214" "00376306" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome.type.3" "" "0000273396" "04214" "00379523" "00000" "Familial" "27y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 3" "" "0000273995" "04214" "00380140" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000274847" "04214" "00380996" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000276090" "04214" "00382241" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276367" "04214" "00382518" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276860" "04214" "00383070" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000276888" "04214" "00383098" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000278396" "04214" "00384606" "00000" "Familial, autosomal recessive" "40y" "Visual acuity: 20/30–20/" "15y" "28y" "" "" "" "" "" "" "" "Usher syndrome" "" "0000278935" "04214" "00385139" "00000" "Familial, autosomal recessive" "30y8m" "HP:0008615 Adult onset sensorineural hearing impairment; HP:0000510 Rod cone dystrophy" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000278939" "04214" "00385143" "00000" "Familial, autosomal recessive" "21y7m" "HP:0012712 Mild hearing impairment; HP:0000510 Rod cone dystrophy" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000279546" "04214" "00385733" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "Usher syndrome" "" "0000279593" "04214" "00385780" "00000" "Familial, autosomal recessive" "48y" "audiometry: bilateral sensorineural deafness. Hearing was normal at birth, speech is normal, no balance problems, ffERG showed severe reduction in both scotopic and photopic responses. OCT revealed central macular atrophy. S4). Cataract in both eyes" "5y" "" "Nyctalopia" "" "" "" "" "" "Usher syndrome type III" "Retinitis pigmentosa" "" "0000279594" "04214" "00385781" "00000" "Familial, autosomal recessive" "54y" "audiometry: bilateral sensorineural deafness. Hearing was normal at birth, speech is normal, no balance problems, ffERG showed severe reduction in both scotopic and photopic responses. OCT revealed central macular atrophy. S4). Cataract in both eyes" "7y" "" "Nyctalopia" "" "" "" "" "" "Usher syndrome type III" "Retinitis pigmentosa" "" "0000279595" "04214" "00385782" "00000" "Familial, autosomal recessive" "44y" "audiometry: bilateral sensorineural deafness. Hearing was normal at birth, speech is normal, no balance problems, ffERG showed severe reduction in both scotopic and photopic responses. OCT revealed central macular atrophy. S4). Cataract in both eyes" "6y" "" "Nyctalopia" "" "" "" "" "" "Usher syndrome type III" "Retinitis pigmentosa" "" "0000279596" "04214" "00385783" "00000" "Familial, autosomal recessive" "48y" "audiometry: bilateral sensorineural deafness. Hearing was normal at birth, speech is normal, no balance problems, ffERG showed severe reduction in both scotopic and photopic responses. OCT revealed central macular atrophy. S4). Cataract in both eyes" "7y" "" "Nyctalopia" "" "" "" "" "" "Usher syndrome type III" "Retinitis pigmentosa" "" "0000279597" "04214" "00385784" "00000" "Familial, autosomal recessive" "41y" "audiometry: bilateral sensorineural deafness. Hearing was normal at birth, speech is normal, no balance problems, ffERG showed severe reduction in both scotopic and photopic responses. OCT revealed central macular atrophy. S4). Cataract in both eyes" "36y" "" "Nyctalopia" "" "" "" "" "" "Usher syndrome type III" "Retinitis pigmentosa" "" "0000279598" "04214" "00385785" "00000" "Familial, autosomal recessive" "" "declined to participate in the clinical assessments" "" "" "" "" "" "" "" "" "Usher syndrome type III" "Retinitis pigmentosa" "" "0000279985" "04214" "00386182" "00000" "Familial, X-linked" "12y" "" "" "3y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000280596" "04214" "00386796" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280907" "04214" "00387129" "00000" "Familial, autosomal recessive" "10y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000280908" "04214" "00387130" "00000" "Familial, autosomal recessive" "8y" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "" "0000287163" "04214" "00393957" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287164" "04214" "00393958" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287165" "04214" "00393959" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287166" "04214" "00393960" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287167" "04214" "00393961" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287168" "04214" "00393962" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000287169" "04214" "00393963" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher Syndrome" "" "0000289500" "04214" "00396338" "00000" "Familial, autosomal recessive" "60y5m" "typical vestibular findings, Severe hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type III (USH3)" "" "0000289501" "04214" "00396339" "00000" "Familial, autosomal recessive" "54y2m" "typical vestibular findings, Severe hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type III (USH3)" "" "0000289502" "04214" "00396340" "00000" "Familial, autosomal recessive" "45y11m" "typical vestibular findings, Severe hearing loss, Low cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type III (USH3)" "" "0000289503" "04214" "00396341" "00000" "Familial, autosomal recessive" "62y7m" "typical vestibular findings, Severe hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type III (USH3)" "" "0000289504" "04214" "00396342" "00000" "Familial, autosomal recessive" "21y2m" "typical vestibular findings, Severe hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type III (USH3)" "" "0000289505" "04214" "00396343" "00000" "Familial, autosomal recessive" "23y8m" "typical vestibular findings, Profound hearing loss," "" "" "" "" "" "" "" "" "" "Usher syndrome type III (USH3)" "" "0000289506" "04214" "00396344" "00000" "Familial, autosomal recessive" "24y8m" "typical vestibular findings, Severe hearing loss, Absent cervical vestibular evoked myogenic potential" "" "" "" "" "" "" "" "" "" "Usher syndrome type III (USH3)" "" "0000300548" "04214" "00408432" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 3" "" "" "0000300549" "04214" "00408433" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 3" "" "" "0000301032" "04214" "00408914" "00000" "Familial, autosomal recessive" "" "bilateral microphthalmos and a slim prepubertal appearance" "" "" "progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000301033" "04214" "00408915" "00000" "Familial, autosomal recessive" "" "bilateral microphthalmos and a slim prepubertal appearance" "" "" "progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000301034" "04214" "00408916" "00000" "Familial, autosomal recessive" "" "bilateral microphthalmos and a slim prepubertal appearance" "" "" "progressively poor vision since birth, nyctalopia, and early-onset retinal dystrophy with atypical maculopathy" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000301035" "04214" "00408917" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000301036" "04214" "00408918" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome type 1 (USH1)" "" "0000320533" "04214" "00429661" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320788" "04214" "00429916" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336601" "00198" "00447402" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336641" "00198" "00447442" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 292 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000011031" "00011117" "1" "00585" "00006" "2014-02-04 22:33:55" "" "" "SEQ" "DNA" "?" "" "0000156281" "00155416" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156282" "00155417" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156283" "00155418" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000166864" "00165985" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2016-05-30 18:09:32" "SEQ" "DNA" "" "" "0000166865" "00165986" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000166866" "00165987" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000166867" "00165988" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-07-07 17:46:01" "SEQ" "DNA" "" "" "0000166868" "00165989" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166869" "00165990" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166870" "00165991" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166871" "00165992" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166872" "00165993" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166873" "00165994" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166874" "00165995" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166875" "00165996" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166876" "00165997" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166877" "00165998" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166878" "00165999" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166879" "00166000" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166880" "00166001" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166881" "00166002" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166882" "00166003" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166883" "00166004" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166884" "00166005" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166885" "00166006" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166886" "00166007" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166887" "00166008" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166888" "00166009" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166889" "00166010" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166890" "00166011" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166891" "00166012" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166892" "00166013" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166893" "00166014" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166894" "00166015" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166895" "00166016" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166896" "00166017" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166897" "00166018" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166898" "00166019" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166899" "00166020" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166900" "00166021" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166901" "00166022" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166902" "00166023" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166903" "00166024" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166904" "00166025" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166905" "00166026" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166906" "00166027" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166907" "00166028" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166908" "00166029" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166909" "00166030" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166910" "00166031" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166911" "00166032" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166912" "00166033" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166913" "00166034" "1" "02416" "02416" "2010-03-05 09:38:38" "00110" "2010-12-30 14:03:52" "SEQ" "DNA" "" "" "0000166914" 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11:25:04" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167932" "00167053" "1" "02416" "02416" "2012-10-02 11:26:23" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167933" "00167054" "1" "02416" "02416" "2012-10-02 11:27:23" "00110" "2016-05-30 18:09:33" "SEQ" "DNA" "" "" "0000167934" "00167055" "1" "02416" "02416" "2013-02-08 17:45:56" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168004" "00167125" "1" "02416" "02416" "2013-02-07 15:32:21" "00110" "2014-02-06 10:22:10" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168005" "00167126" "1" "02416" "02416" "2013-02-07 16:49:13" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000168006" "00167127" "1" "02416" "02416" "2013-02-07 16:59:06" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000168007" "00167128" "1" "02416" "02416" "2013-02-07 17:07:31" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000168008" "00167129" "1" "02416" "02416" "2013-02-07 17:09:48" "00006" "2019-02-14 13:10:47" "PE;SEQ" "DNA" "" "APEX" "0000168030" "00167151" "1" "02416" "02416" "2013-06-05 16:45:14" "00110" "2016-06-06 09:35:48" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168541" "00167662" "1" "02416" "02416" "2015-02-09 14:42:26" "00110" "2015-02-09 15:05:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168543" "00167664" "1" "02416" "02416" "2015-02-09 15:03:45" "00110" "2015-02-09 15:05:57" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168643" "00167764" "1" "02416" "02416" "2015-10-05 09:33:17" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168647" "00167768" "1" "02416" "02416" "2015-10-06 10:49:36" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168648" "00167769" "1" "02416" "02416" "2015-10-06 10:53:59" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168698" "00167819" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168699" "00167820" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168700" "00167821" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168701" "00167822" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168702" "00167823" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168703" "00167824" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168704" "00167825" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168705" "00167826" "1" "02428" "02428" "2016-05-31 18:04:58" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168706" "00167827" "1" "02428" "02428" "2016-05-31 18:04:58" "" "" "SEQ;SEQ-NG-S" "DNA" "" "" "0000168707" "00167828" "1" "02428" "02428" "2016-05-31 18:04:58" "00110" "2016-08-01 14:49:16" "SEQ;SEQ-NG-S" "DNA" "" "" "0000233552" "00232453" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233553" "00232454" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233554" "00232455" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233555" "00232456" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233556" "00232457" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233557" "00232458" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233558" "00232459" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233559" "00232460" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233560" "00232461" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233561" "00232462" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233562" "00232463" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234758" "00233659" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234759" "00233660" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000241542" "00240432" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000294417" "00293249" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294418" "00293250" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309934" "00308789" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "14 gene panel" "0000309938" "00308793" "1" "00004" "00006" "2020-08-27 19:07:12" "" "" "SEQ;SEQ-NG" "DNA" "" "14 gene panel" "0000310196" "00309051" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310197" "00309052" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310198" "00309053" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310199" "00309054" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310200" "00309055" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326679" "00325468" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329136" "00327921" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000333724" "00332500" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000335251" "00334025" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336330" "00335101" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336452" "00335223" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000337177" "00335947" "1" "00000" "00006" "2021-03-09 15:40:50" "" "" "SEQ" "DNA" "" "" "0000360351" "00359113" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360420" "00359182" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360495" "00359257" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363047" "00361819" "1" "02404" "02404" "2021-04-11 12:25:03" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364450" "00363222" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373887" "00372655" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373939" "00372707" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373944" "00372712" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375077" "00373845" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000376147" "00374953" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376621" "00375424" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377501" "00376305" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377502" "00376306" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000380723" "00379523" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "?" "DNA" "blood" "" "0000381342" "00380140" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel (negative), WES" "0000382210" "00380996" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000383455" "00382241" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383732" "00382518" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384294" "00383070" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000384322" "00383098" "1" "00000" "00008" "2021-09-23 02:25:49" "" "" "SEQ" "DNA" "blood" "" "0000385833" "00384606" "1" "00000" "03840" "2021-10-01 12:53:59" "" "" "SEQ-NG-I" "DNA" "blood" "198 genes panel, see paper" "0000386368" "00385139" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386372" "00385143" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "105 genes panel" "0000386961" "00385733" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 6 containing 386 genes" "0000387008" "00385780" "1" "00000" "03840" "2021-10-15 12:48:29" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing" "0000387009" "00385781" "1" "00000" "03840" "2021-10-15 12:48:29" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing" "0000387010" "00385782" "1" "00000" "03840" "2021-10-15 12:48:29" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing" "0000387011" "00385783" "1" "00000" "03840" "2021-10-15 12:48:29" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing" "0000387012" "00385784" "1" "00000" "03840" "2021-10-15 12:48:29" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing" "0000387013" "00385785" "1" "00000" "03840" "2021-10-15 12:48:29" "" "" "SEQ-NG" "DNA" "blood" "Whole-exome sequencing" "0000387411" "00386182" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388024" "00386796" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388355" "00387129" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388356" "00387130" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388372" "00387146" "1" "02416" "02416" "2021-10-28 14:00:22" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000388432" "00387206" "1" "02416" "02416" "2021-10-28 14:04:37" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000395205" "00393957" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395206" "00393958" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395207" "00393959" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395208" "00393960" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395209" "00393961" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395210" "00393962" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000395211" "00393963" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "PCR;SEQ" "DNA" "blood" "" "0000397579" "00396338" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397580" "00396339" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397581" "00396340" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397582" "00396341" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397583" "00396342" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397584" "00396343" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000397585" "00396344" "1" "00000" "00008" "2021-12-15 12:47:34" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000409689" "00408432" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000409690" "00408433" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000410179" "00408914" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG;RT-PCRq" "DNA;RNA" "blood" "WES;WGS;Genome-wide linkage analysis" "0000410180" "00408915" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG;RT-PCRq" "DNA;RNA" "blood" "WES;WGS;Genome-wide linkage analysis" "0000410181" "00408916" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG;RT-PCRq" "DNA;RNA" "blood" "WES;WGS;Genome-wide linkage analysis" "0000410182" "00408917" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG;RT-PCRq" "DNA;RNA" "blood" "WES;WGS;Genome-wide linkage analysis" "0000410183" "00408918" "1" "00000" "00008" "2022-04-29 01:04:01" "" "" "SEQ;SEQ-NG;RT-PCRq" "DNA;RNA" "blood" "WES;WGS;Genome-wide linkage analysis" "0000431074" "00429661" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431329" "00429916" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000448979" "00447402" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449019" "00447442" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 79 "{{screeningid}}" "{{geneid}}" "0000011031" "BRCA1" "0000011031" "BRCA2" "0000156281" "CLRN1" "0000156282" "CLRN1" "0000156283" "CLRN1" "0000233552" "CLRN1" "0000233553" "CLRN1" "0000233554" "CLRN1" "0000233555" "CLRN1" "0000233556" "CLRN1" "0000233557" "CLRN1" "0000233558" "CLRN1" "0000233559" "CLRN1" "0000233560" "CLRN1" "0000233561" "CLRN1" "0000233562" "CLRN1" "0000234758" "CLRN1" "0000234759" "CLRN1" "0000241542" "CLRN1" "0000309934" "CLRN1" "0000309938" "CLRN1" "0000310196" "CLRN1" "0000310197" "CLRN1" "0000310198" "CLRN1" "0000310199" "CLRN1" "0000310200" "CLRN1" "0000326679" "CLRN1" "0000329136" "CLRN1" "0000333724" "CLRN1" "0000335251" "CLRN1" "0000336330" "CLRN1" "0000336452" "CLRN1" "0000337177" "CLRN1" "0000364450" "CLRN1" "0000375077" "CLRN1" "0000377501" "CLRN1" "0000377502" "CLRN1" "0000380723" "CLRN1" "0000382210" "CLRN1" "0000383455" "CACNA1F" "0000383732" "CLRN1" "0000384294" "CLRN1" "0000384322" "CLRN1" "0000385833" "CLRN1" "0000386368" "CLRN1" "0000386372" "CLRN1" "0000386961" "CLRN1" "0000387009" "CLRN1" "0000387010" "CLRN1" "0000387011" "CLRN1" "0000387012" "CLRN1" "0000387013" "CLRN1" "0000387411" "RPGR" "0000388024" "CLRN1" "0000388355" "CLRN1" "0000388356" "CLRN1" "0000395205" "CLRN1" "0000395206" "CLRN1" "0000395207" "CLRN1" "0000395208" "CLRN1" "0000395209" "CLRN1" "0000395210" "CLRN1" "0000395211" "CLRN1" "0000397579" "CLRN1" "0000397580" "CLRN1" "0000397581" "CLRN1" "0000397582" "CLRN1" "0000397583" "CLRN1" "0000397584" "CLRN1" "0000397585" "CLRN1" "0000409689" "CLRN1" "0000409690" "CLRN1" "0000410179" "CLRN1" "0000410180" "CLRN1" "0000410181" "CLRN1" "0000410182" "CLRN1" "0000410183" "CLRN1" "0000431074" "CNGA1" "0000431329" "CLRN1" ## 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 = 510 "{{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}}" "0000246189" "0" "90" "3" "150660197" "150660197" "subst" "0" "02330" "CLRN1_000223" "g.150660197A>C" "" "" "" "CLRN1(NM_001195794.1):c.254-649T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150942410A>C" "" "pathogenic" "" "0000266848" "0" "90" "3" "150661680" "150661680" "subst" "8.26979E-6" "02325" "CLRN1_000225" "g.150661680G>A" "" "" "" "CLRN1(NM_001256819.2):c.352C>T (p.R118*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150943893G>A" "" "pathogenic" "" "0000273627" "0" "50" "3" "150661626" "150661626" "subst" "0" "01943" "CLRN1_000224" "g.150661626C>T" "" "" "" "CLRN1(NM_001256819.1):c.406G>A (p.G136S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150943839C>T" "" "VUS" "" "0000273628" "0" "50" "3" "150645949" "150645949" "subst" "2.84775E-5" "01943" "CLRN1_000222" "g.150645949T>C" "" "" "" "CLRN1(NM_001195794.1):c.512A>G (p.E171G, p.(Glu171Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150928162T>C" "" "VUS" "" "0000273629" "0" "30" "3" "150645762" "150645762" "subst" "0.000390333" "01943" "CLRN1_000221" "g.150645762G>A" "" "" "" "CLRN1(NM_001195794.1):c.699C>T (p.D233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150927975G>A" "" "likely benign" "" "0000337243" "0" "50" "3" "150658308" "150658308" "subst" "0.000494736" "02327" "CLRN1_000227" "g.150658308T>A" "" "" "" "CLRN1(NM_001256819.2):c.*47+1061A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150940521T>A" "" "VUS" "" "0000339471" "0" "10" "3" "150690439" "150690439" "subst" "0.134546" "02327" "CLRN1_000232" "g.150690439T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150972652T>A" "" "benign" "" "0000344384" "0" "70" "3" "150690378" "150690378" "subst" "7.31006E-5" "02327" "CLRN1_000231" "g.150690378A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150972591A>C" "" "likely pathogenic" "" "0000344954" "0" "50" "3" "150690278" "150690278" "subst" "0.000182738" "02327" "CLRN1_000229" "g.150690278T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150972491T>C" "" "VUS" "" "0000347736" "0" "70" "3" "150659443" "150659443" "subst" "2.84421E-5" "02327" "CLRN1_000228" "g.150659443A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150941656A>T" "" "likely pathogenic" "" "0000349065" "0" "90" "3" "150690344" "150690347" "delins" "0" "02327" "CLRN1_000230" "g.150690344_150690347delinsATTGGACA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150972557_150972560delinsATTGGACA" "" "pathogenic" "" "0000349953" "0" "90" "3" "150645894" "150645894" "subst" "0.000708509" "02327" "CLRN1_000005" "g.150645894A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000358203" "0" "90" "3" "150645894" "150645894" "subst" "0.000708509" "01243" "CLRN1_000005" "g.150645894A>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000358204" "3" "90" "3" "150690352" "150690352" "subst" "0.000263974" "01243" "CLRN1_000234" "g.150690352A>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000358205" "3" "90" "3" "150659368" "150659368" "subst" "8.13418E-6" "01243" "CLRN1_000233" "g.150659368C>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.150941581C>T" "" "pathogenic" "" "0000358418" "0" "90" "3" "150690352" "150690352" "subst" "0.000263974" "01243" "CLRN1_000234" "g.150690352A>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378243" "10" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02416" "CLRN1_000001" "g.150659434G>T" "" "USMA-{USMAUSH3A:A123D} USMA-{MSV3dP58418:p.Ala123Asp}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378244" "20" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02416" "CLRN1_000001" "g.150659434G>T" "" "USMA-{USMAUSH3A:A123D} USMA-{MSV3dP58418:p.Ala123Asp}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378245" "10" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02416" "CLRN1_000001" "g.150659434G>T" "0/386 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378246" "20" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02416" "CLRN1_000001" "g.150659434G>T" "0/386 controls" "{PMID:Ebermann 2007:17407589}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378247" "10" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02416" "CLRN1_000001" "g.150659434G>T" "0/90 controls" "{PMID:Isosomppi 2009:19753315}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378248" "20" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02416" "CLRN1_000001" "g.150659434G>T" "0/90 controls" "{PMID:Isosomppi 2009:19753315}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378249" "10" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02428" "CLRN1_000001" "g.150659434G>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378250" "10" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02428" "CLRN1_000001" "g.150659434G>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378251" "20" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02428" "CLRN1_000001" "g.150659434G>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378252" "20" "99" "3" "150659434" "150659434" "subst" "1.62524E-5" "02428" "CLRN1_000001" "g.150659434G>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAUSH3AA123D:} USMA-{MSV3dP58418p.Ala123Asp:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150941647G>T" "" "pathogenic" "" "0000378253" "1" "99" "3" "150645919" "150645919" "dup" "0" "02416" "CLRN1_000002" "g.150645919dup" "0/212 controls" "{PMID:Ebermann 2007(2):17893653}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928132dup" "" "pathogenic" "" "0000378254" "2" "99" "3" "150645919" "150645919" "dup" "0" "02416" "CLRN1_000002" "g.150645919dup" "0/212 controls" "{PMID:Ebermann 2007(2):17893653}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928132dup" "" "pathogenic" "" "0000378255" "2" "99" "3" "150645919" "150645919" "dup" "0" "02416" "CLRN1_000002" "g.150645919dup" "0/212 controls" "{PMID:Ebermann 2007(2):17893653}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928132dup" "" "pathogenic" "" "0000378256" "2" "99" "3" "150645919" "150645919" "dup" "0" "02428" "CLRN1_000002" "g.150645919dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs746523071" "0" "" "" "g.150928132dup" "" "pathogenic" "" "0000378257" "10" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378258" "1" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378259" "20" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378260" "1" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "" "{PMID:Sadeghi 2005:16028794}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378261" "1" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "" "{PMID:Sadeghi 2005:16028794}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378262" "1" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "" "{PMID:Ebermann 2007(2):17893653}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378263" "1" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "" "{PMID:Ebermann 2007(2):17893653}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378264" "1" "99" "3" "150690344" "150690347" "del" "0" "02416" "CLRN1_000003" "g.150690344_150690347del" "" "{PMID:Ebermann 2007(2):17893653}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972557_150972560del" "" "pathogenic" "" "0000378265" "1" "99" "3" "150690344" "150690347" "delins" "0" "02428" "CLRN1_000003" "g.150690344_150690347delinsATTGGACA" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.150972557_150972560delinsATTGGACA" "" "pathogenic" "" "0000378266" "2" "99" "3" "150659443" "150659443" "subst" "2.84421E-5" "02416" "CLRN1_000004" "g.150659443A>T" "0/302 controls" "{PMID:Joensuu 2001:11524702}; USMA-{USMAUSH3AM120K:} USMA-{MSV3dP58418p.Met120Lys:}" "" "" "heterozygous" "Germline" "" "rs121908141" "0" "" "" "g.150941656A>T" "" "pathogenic" "" "0000378267" "2" "99" "3" "150659443" "150659443" "subst" "2.84421E-5" "02416" "CLRN1_000004" "g.150659443A>T" "0/302 controls" "{PMID:Joensuu 2001:11524702}; USMA-{USMAUSH3AM120K:} USMA-{MSV3dP58418p.Met120Lys:}" "" "" "heterozygous" "Germline" "" "rs121908141" "0" "" "" "g.150941656A>T" "" "pathogenic" "" "0000378268" "1" "99" "3" "150659443" "150659443" "subst" "2.84421E-5" "02416" "CLRN1_000004" "g.150659443A>T" "0/302 controls" "{PMID:Joensuu 2001:11524702}; USMA-{USMAUSH3AM120K:} USMA-{MSV3dP58418p.Met120Lys:}" "" "" "heterozygous" "Germline" "" "rs121908141" "0" "" "" "g.150941656A>T" "" "pathogenic" "" "0000378269" "1" "99" "3" "150659443" "150659443" "subst" "2.84421E-5" "02416" "CLRN1_000004" "g.150659443A>T" "0/302 controls" "{PMID:Joensuu 2001:11524702}; USMA-{USMAUSH3AM120K:} USMA-{MSV3dP58418p.Met120Lys:}" "" "" "heterozygous" "Germline" "" "rs121908141" "0" "" "" "g.150941656A>T" "" "pathogenic" "" "0000378270" "1" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378271" "1" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378272" "2" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378273" "2" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378274" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378275" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378276" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378277" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378278" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378279" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378280" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378281" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378282" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378283" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378284" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378285" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378286" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378287" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378288" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378289" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378290" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378291" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378292" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378293" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378294" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378295" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378296" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378297" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378298" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378299" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378300" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378301" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378302" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378303" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378304" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378305" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378306" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378307" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378308" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378309" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378310" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378311" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378312" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378313" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378314" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378315" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378316" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378317" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378318" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378319" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378320" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378321" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378322" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378323" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378324" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378325" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378326" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378327" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378328" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378329" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378330" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378331" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378332" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378333" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378334" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378335" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378336" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378337" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378338" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378339" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378340" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378341" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378342" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378343" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378344" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378345" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378346" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378347" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378348" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378349" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378350" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378351" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378352" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378353" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378354" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378355" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378356" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378357" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378358" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378359" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378360" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378361" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378362" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378363" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378364" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378365" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378366" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378367" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378368" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378369" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378370" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378371" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378372" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378373" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378374" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378375" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378376" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378377" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "1/502 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378378" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378379" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378380" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378381" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378382" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378383" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378384" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378385" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378386" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378387" "2" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378388" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378389" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Plantinga 2005:15650299}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378390" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Plantinga 2005:15650299}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378391" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Plantinga 2005:15650299}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378392" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Plantinga 2005:15650299}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378393" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Plantinga 2005:15650299}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378394" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Plantinga 2005:15650299}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378395" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378396" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378397" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378398" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378399" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378400" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378401" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378402" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378403" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378404" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378405" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378406" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378407" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378408" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378409" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378410" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378411" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378412" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378413" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378414" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378415" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378416" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378417" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378418" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378419" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378420" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378421" "2" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378422" "2" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Sadeghi 2005:16028794}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378423" "2" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Isosomppi 2009:19753315}" "" "" "heterozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378424" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Vastinsalo 2012:22681893}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378425" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Vastinsalo 2012:22681893}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378426" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Vastinsalo 2012:22681893}" "" "" "homozygous" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378427" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Vastinsalo 2012:22681893}" "" "" "homozygous; Pathogenic" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378428" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Glöcke 2013:23591405}" "" "" "homozygous; likely pathogenic" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378429" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02416" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Glöcke 2013:23591405}" "" "" "homozygous; likely pathogenic" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378431" "10" "99" "3" "150645962" "150645964" "del" "0" "02416" "CLRN1_000006" "g.150645962_150645964del" "0/302 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150928175_150928177del" "" "pathogenic" "" "0000378432" "20" "99" "3" "150645962" "150645964" "del" "0" "02416" "CLRN1_000006" "g.150645962_150645964del" "0/302 controls" "{PMID:Joensuu 2001:11524702}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150928175_150928177del" "" "pathogenic" "" "0000378433" "1" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "heterozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378434" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378435" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378436" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378437" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378438" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378439" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378440" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378441" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378442" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378443" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "1/220 controls" "{PMID:Adato 2002:12080385}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378444" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378445" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378446" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378447" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378448" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378449" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378450" "1" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "heterozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378451" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378452" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378453" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378454" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378455" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378456" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378457" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378458" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378459" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378460" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378461" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378462" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378463" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378464" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378465" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378466" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378467" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378468" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378469" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378470" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378471" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378472" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378473" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378474" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378475" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378476" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378477" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378478" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378479" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378480" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378481" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378482" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378483" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378484" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "3/838 controls" "{PMID:Ness 2003:14569126}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378485" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378486" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378487" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378488" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378489" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378490" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378491" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378492" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378493" "1" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "heterozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378494" "0" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "heterozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378495" "0" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "heterozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378496" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378497" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378498" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378499" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378500" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378501" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378502" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378503" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378504" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Isosomppi 2009:19753315}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378505" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Isosomppi 2009:19753315}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378506" "1" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Isosomppi 2009:19753315}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "heterozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378507" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02419" "CLRN1_000007" "g.150690352A>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous; Pathogenic" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378508" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02419" "CLRN1_000007" "g.150690352A>C" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous; Pathogenic" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378509" "1" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Ratnam 2012:22964989}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "heterozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378510" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Ratnam 2012:22964989}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378511" "10" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Ratnam 2012:22964989}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378512" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Ratnam 2012:22964989}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378513" "20" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02416" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Ratnam 2012:22964989}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "+PhoI;+StuI;+HaeIII;+CviKI_1;" "" "homozygous" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378514" "2" "99" "3" "150690352" "150690352" "subst" "0.000263974" "02428" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAUSH3AN48K:} USMA-{MSV3dP58418p.Asn48Lys:}" "" "" "heterozygous; mutation" "Germline" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "pathogenic" "" "0000378515" "1" "55" "3" "150690335" "150690335" "subst" "8.12216E-6" "02416" "CLRN1_000008" "g.150690335A>G" "0/90 controls" "{PMID:Isosomppi 2009:19753315}; USMA-{USMAUSH3AL54P:} USMA-{MSV3dP58418p.Leu54Pro:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972548A>G" "" "VUS" "" "0000378516" "10" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/134 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378517" "10" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/134 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378518" "10" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/134 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378519" "20" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/134 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378520" "20" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/134 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378521" "20" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/134 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378522" "10" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378523" "11" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}" "" "" "heterozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378524" "20" "99" "3" "150690307" "150690307" "subst" "1.21833E-5" "02416" "CLRN1_000009" "g.150690307G>T" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}" "" "" "homozygous" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000378525" "10" "99" "3" "150690288" "150690310" "del" "0" "02416" "CLRN1_000010" "g.150690288_150690310del" "0/198 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972501_150972523del" "" "pathogenic" "" "0000378526" "10" "99" "3" "150690288" "150690310" "del" "0" "02416" "CLRN1_000010" "g.150690288_150690310del" "0/198 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972501_150972523del" "" "pathogenic" "" "0000378527" "20" "99" "3" "150690288" "150690310" "del" "0" "02416" "CLRN1_000010" "g.150690288_150690310del" "0/198 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972501_150972523del" "" "pathogenic" "" "0000378528" "20" "99" "3" "150690288" "150690310" "del" "0" "02416" "CLRN1_000010" "g.150690288_150690310del" "0/198 controls" "{PMID:Adato 2002:12080385}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972501_150972523del" "" "pathogenic" "" "0000378531" "10" "99" "3" "150690378" "150690378" "subst" "7.31006E-5" "02416" "CLRN1_000011" "g.150690378A>C" "0/192 controls" "{PMID:Aller 2004:15521980}; USMA-{USMAUSH3AC40G:} USMA-{MSV3dP58418p.Cys40Gly:}" "" "" "homozygous" "Germline" "" "rs121908143" "0" "" "" "g.150972591A>C" "" "pathogenic" "" "0000378532" "20" "99" "3" "150690378" "150690378" "subst" "7.31006E-5" "02416" "CLRN1_000011" "g.150690378A>C" "0/192 controls" "{PMID:Aller 2004:15521980}; USMA-{USMAUSH3AC40G:} USMA-{MSV3dP58418p.Cys40Gly:}" "" "" "homozygous" "Germline" "" "rs121908143" "0" "" "" "g.150972591A>C" "" "pathogenic" "" "0000378533" "10" "99" "3" "150659489" "150659489" "subst" "0" "02416" "CLRN1_000012" "g.150659489A>G" "" "{PMID:Sadeghi 2005:16028794}; USMA-{USMAUSH3AS105P:} USMA-{MSV3dP58418p.Ser105Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941702A>G" "" "pathogenic" "" "0000378534" "10" "99" "3" "150659489" "150659489" "subst" "0" "02416" "CLRN1_000012" "g.150659489A>G" "" "{PMID:Sadeghi 2005:16028794}; USMA-{USMAUSH3AS105P:} USMA-{MSV3dP58418p.Ser105Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941702A>G" "" "pathogenic" "" "0000378535" "20" "99" "3" "150659489" "150659489" "subst" "0" "02416" "CLRN1_000012" "g.150659489A>G" "" "{PMID:Sadeghi 2005:16028794}; USMA-{USMAUSH3AS105P:} USMA-{MSV3dP58418p.Ser105Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941702A>G" "" "pathogenic" "" "0000378536" "20" "99" "3" "150659489" "150659489" "subst" "0" "02416" "CLRN1_000012" "g.150659489A>G" "" "{PMID:Sadeghi 2005:16028794}; USMA-{USMAUSH3AS105P:} USMA-{MSV3dP58418p.Ser105Pro:}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150941702A>G" "" "pathogenic" "" "0000378537" "1" "99" "3" "150690331" "150690331" "del" "4.06095E-6" "02416" "CLRN1_000013" "g.150690331del" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972544del" "" "pathogenic" "" "0000378538" "1" "99" "3" "150690331" "150690331" "del" "4.06095E-6" "02416" "CLRN1_000013" "g.150690331del" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972544del" "" "pathogenic" "" "0000378539" "1" "99" "3" "150690331" "150690331" "del" "4.06095E-6" "02416" "CLRN1_000013" "g.150690331del" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972544del" "" "pathogenic" "" "0000378540" "1" "99" "3" "150690331" "150690331" "del" "4.06095E-6" "02416" "CLRN1_000013" "g.150690331del" "0/200 controls" "{PMID:Fields 2002:12145752}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972544del" "" "pathogenic" "" "0000378541" "0" "99" "3" "150690331" "150690331" "del" "4.06095E-6" "02416" "CLRN1_000013" "g.150690331del" "" "{PMID:Herrera 2008:18281613}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972544del" "" "pathogenic" "" "0000378542" "0" "99" "3" "150690331" "150690331" "del" "4.06095E-6" "02416" "CLRN1_000013" "g.150690331del" "" "{PMID:Herrera 2008:18281613}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150972544del" "" "pathogenic" "" "0000378543" "2" "99" "3" "150645973" "150645973" "subst" "0" "02416" "CLRN1_000014" "g.150645973A>G" "0/200 controls" "{PMID:Fields 2002:12145752}; USMA-{USMAUSH3AL150P:} USMA-{MSV3dP58418p.Leu150Pro:}" "" "" "heterozygous" "Germline" "" "rs121908142" "0" "" "" "g.150928186A>G" "" "pathogenic" "" "0000378544" "2" "99" "3" "150645973" "150645973" "subst" "0" "02416" "CLRN1_000014" "g.150645973A>G" "" "{PMID:Herrera 2008:18281613}; USMA-{USMAUSH3AL150P:} USMA-{MSV3dP58418p.Leu150Pro:}" "" "" "heterozygous" "Germline" "" "rs121908142" "0" "" "" "g.150928186A>G" "" "pathogenic" "" "0000378545" "10" "99" "3" "150645803" "150645803" "subst" "2.84694E-5" "02416" "CLRN1_000015" "g.150645803G>A" "" "{PMID:Licastro 2012:22952768}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150928016G>A" "" "pathogenic" "" "0000378546" "20" "99" "3" "150645803" "150645803" "subst" "2.84694E-5" "02416" "CLRN1_000015" "g.150645803G>A" "" "{PMID:Licastro 2012:22952768}" "" "" "homozygous" "Germline" "" "" "0" "" "" "g.150928016G>A" "" "pathogenic" "" "0000378547" "0" "99" "3" "150645803" "150645803" "subst" "2.84694E-5" "02416" "CLRN1_000015" "g.150645803G>A" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928016G>A" "" "pathogenic" "" "0000378548" "0" "99" "3" "150645803" "150645803" "subst" "2.84694E-5" "02416" "CLRN1_000015" "g.150645803G>A" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928016G>A" "" "pathogenic" "" "0000378549" "21" "99" "3" "150645803" "150645803" "subst" "2.84694E-5" "02416" "CLRN1_000015" "g.150645803G>A" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928016G>A" "" "pathogenic" "" "0000378550" "1" "99" "3" "150645803" "150645803" "subst" "2.84694E-5" "02416" "CLRN1_000015" "g.150645803G>A" "" "{PMID:Jiang 2015:26338283}" "" "NM_001195794.1:C658T - p.R220X" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.150928016G>A" "" "pathogenic" "" "0000378557" "10" "99" "3" "150659499" "150659503" "del" "0" "02416" "CLRN1_000018" "g.150659499_150659503del" "0/186 controls" "{PMID:Akoury 2011:21675857}" "+Tsp509I;-MslI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150941712_150941716del" "" "pathogenic" "" "0000378558" "10" "99" "3" "150659499" "150659503" "del" "0" "02416" "CLRN1_000018" "g.150659499_150659503del" "0/186 controls" "{PMID:Akoury 2011:21675857}" "+Tsp509I;-MslI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150941712_150941716del" "" "pathogenic" "" "0000378559" "20" "99" "3" "150659499" "150659503" "del" "0" "02416" "CLRN1_000018" "g.150659499_150659503del" "0/186 controls" "{PMID:Akoury 2011:21675857}" "+Tsp509I;-MslI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150941712_150941716del" "" "pathogenic" "" "0000378560" "20" "99" "3" "150659499" "150659503" "del" "0" "02416" "CLRN1_000018" "g.150659499_150659503del" "0/186 controls" "{PMID:Akoury 2011:21675857}" "+Tsp509I;-MslI;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150941712_150941716del" "" "pathogenic" "" "0000378561" "10" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378562" "10" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378563" "10" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378564" "10" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378565" "10" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378566" "20" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378567" "20" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378568" "20" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378569" "20" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378570" "20" "95" "3" "150645961" "150645961" "subst" "4.06894E-6" "02416" "CLRN1_000019" "g.150645961A>C" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AL154W:} USMA-{MSV3dP58418p.Leu154Trp:}" "none" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150928174A>C" "" "likely pathogenic" "ACMG" "0000378571" "10" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378572" "10" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378573" "10" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378574" "10" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378575" "10" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378576" "10" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378577" "20" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378578" "20" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378579" "20" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378580" "20" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378581" "20" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378582" "20" "95" "3" "150690404" "150690404" "subst" "0" "02416" "CLRN1_000020" "g.150690404G>A" "0/180 controls" "{PMID:Khan 2011:21310491}; USMA-{USMAUSH3AP31L:} USMA-{MSV3dP58418p.Pro31Leu:}" "+TspRI" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972617G>A" "" "likely pathogenic" "ACMG" "0000378583" "0" "15" "3" "150645446" "150645446" "subst" "0" "02419" "CLRN1_000021" "g.150645446C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.150927659C>T" "" "likely benign" "ACMG" "0000378584" "0" "15" "3" "150645446" "150645446" "subst" "0" "02419" "CLRN1_000021" "g.150645446C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.150927659C>T" "" "likely benign" "ACMG" "0000378585" "0" "15" "3" "150645446" "150645446" "subst" "0" "02419" "CLRN1_000021" "g.150645446C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.150927659C>T" "" "likely benign" "ACMG" "0000378586" "10" "99" "3" "150690344" "150690347" "delins" "0" "02419" "CLRN1_000022" "g.150690344_150690347delinsATTGGACA" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4V;-MnlI;-DdeI;-BspCNI;-Bsu36I;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972557_150972560delinsATTGGACA" "" "pathogenic" "" "0000378587" "20" "99" "3" "150690344" "150690347" "delins" "0" "02419" "CLRN1_000022" "g.150690344_150690347delinsATTGGACA" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HpyCH4V;-MnlI;-DdeI;-BspCNI;-Bsu36I;" "" "homozygous; Pathogenic" "Germline" "" "" "0" "" "" "g.150972557_150972560delinsATTGGACA" "" "pathogenic" "" "0000378588" "0" "15" "3" "150644998" "150644998" "subst" "0" "02419" "CLRN1_000023" "g.150644998T>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+DdeI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.150927211T>C" "" "likely benign" "ACMG" "0000378589" "0" "15" "3" "150690586" "150690586" "subst" "0.00132554" "02419" "CLRN1_000024" "g.150690586G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+AlwNI" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs73155722" "0" "" "" "g.150972799G>A" "" "likely benign" "ACMG" "0000378590" "0" "15" "3" "150645316" "150645316" "subst" "0" "02419" "CLRN1_000025" "g.150645316C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "-Hpy188I" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.150927529C>T" "" "likely benign" "ACMG" "0000378591" "0" "15" "3" "150690370" "150690370" "subst" "0.000178699" "02419" "CLRN1_000026" "g.150690370C>T" "0/878 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs151049166" "0" "" "" "g.150972583C>T" "" "likely benign" "ACMG" "0000378592" "0" "15" "3" "150690370" "150690370" "subst" "0.000178699" "02419" "CLRN1_000026" "g.150690370C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; UV1" "Germline" "" "rs151049166" "0" "" "" "g.150972583C>T" "" "likely benign" "ACMG" "0000378593" "11" "11" "3" "150690490" "150690490" "subst" "0.0131072" "02419" "CLRN1_000027" "g.150690490T>G" "4/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BseYI" "" "heterozygous; Neutral" "Germline" "" "rs111033422" "0" "" "" "g.150972703T>G" "" "benign" "" "0000378594" "0" "11" "3" "150690490" "150690490" "subst" "0.0131072" "02419" "CLRN1_000027" "g.150690490T>G" "4/844 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BseYI" "" "heterozygous; Neutral" "Germline" "" "rs111033422" "0" "" "" "g.150972703T>G" "" "benign" "" "0000378595" "0" "15" "3" "150690785" "150690785" "subst" "0" "02419" "CLRN1_000028" "g.150690785C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+EarI;+MboII;-BseRI;-MnlI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.150972998C>T" "" "likely benign" "ACMG" "0000378596" "0" "15" "3" "150644807" "150644807" "subst" "0.000461351" "02419" "CLRN1_000029" "g.150644807C>T" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BpuEI;-XhoI;-TliI;-AvaI;-BsoBI;-Hpy188III;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs143654784" "0" "" "" "g.150927020C>T" "" "likely benign" "ACMG" "0000378597" "0" "15" "3" "150644759" "150644759" "subst" "0.00952818" "02419" "CLRN1_000030" "g.150644759G>A" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+BccI;-HpyCH4III;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs16863066" "0" "" "" "g.150926972G>A" "" "likely benign" "ACMG" "0000378598" "0" "15" "3" "150645423" "150645423" "subst" "0" "02419" "CLRN1_000031" "g.150645423A>G" "" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "" "0" "" "" "g.150927636A>G" "" "likely benign" "ACMG" "0000378599" "0" "15" "3" "150644696" "150644696" "subst" "0.00119867" "02419" "CLRN1_000032" "g.150644696A>C" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "none" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs147434424" "0" "" "" "g.150926909A>C" "" "likely benign" "ACMG" "0000378600" "0" "15" "3" "150644532" "150644532" "subst" "0.000993041" "02419" "CLRN1_000033" "g.150644532A>G" "0/96 controls" "{PMID:Le Quesne Stabej 2012:22135276}" "+HinP1I;+HaeII;+HhaI;" "" "heterozygous; pathogenicity not assessed" "Germline" "" "rs113817098" "0" "" "" "g.150926745A>G" "" "likely benign" "ACMG" "0000378601" "2" "99" "3" "150645859" "150645859" "subst" "0" "02416" "CLRN1_000034" "g.150645859G>T" "" "{PMID:Ratnam 2012:22964989}" "+Tsp509I;-MnlI;" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928072G>T" "" "pathogenic" "" "0000378602" "10" "99" "3" "150690429" "150690429" "subst" "0" "02416" "CLRN1_000035" "g.150690429C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BspCNI;+DdeI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972642C>A" "" "pathogenic" "" "0000378603" "20" "99" "3" "150690429" "150690429" "subst" "0" "02416" "CLRN1_000035" "g.150690429C>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "+BspCNI;+DdeI;" "" "homozygous" "Germline" "" "" "0" "" "" "g.150972642C>A" "" "pathogenic" "" "0000378604" "0" "75" "3" "150645919" "150645919" "subst" "0" "02416" "CLRN1_000036" "g.150645919A>T" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}; USMA-{USMAUSH3AI168N:} USMA-{MSV3dP58418p.Ile168Asn:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928132A>T" "" "VUS" "ACMG" "0000378605" "0" "75" "3" "150645919" "150645919" "subst" "0" "02416" "CLRN1_000036" "g.150645919A>T" "0/100 controls" "{PMID:Garcia-Garcia 2012:23304067}; USMA-{USMAUSH3AI168N:} USMA-{MSV3dP58418p.Ile168Asn:}" "" "" "heterozygous" "Germline" "" "" "0" "" "" "g.150928132A>T" "" "VUS" "ACMG" "0000378606" "0" "11" "3" "150658264" "150658264" "subst" "0.0492676" "02416" "CLRN1_000037" "g.150658264G>A" "" "{PMID:Besnard, Garcia-Garcia 2014:24498627}" "" "NM_001195794.1:c.472+4C>T" "heterozygous" "Germline" "" "rs1684666" "0" "" "" "g.150940477G>A" "" "benign" "" "0000378607" "0" "35" "3" "150690278" "150690278" "subst" "0.000182738" "02416" "CLRN1_000038" "g.150690278T>C" "" "{PMID:Licastro 2012:22952768}; USMA-{USMAUSH3AQ73R:} USMA-{MSV3dP58418p.Gln73Arg:}" "" "" "heterozygous" "Germline" "" "rs201008540" "0" "" "" "g.150972491T>C" "" "likely benign" "ACMG" "0000378608" "2" "75" "3" "150690306" "150690306" "subst" "0" "02416" "CLRN1_000039" "g.150690306C>T" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAUSH3AG64R:} USMA-{MSV3dP58418p.Gly64Arg:}" "" "" "heterozygous; mutation" "Germline" "" "" "0" "" "" "g.150972519C>T" "" "VUS" "ACMG" "0000378609" "10" "75" "3" "150690305" "150690305" "subst" "0" "02416" "CLRN1_000040" "g.150690305C>G" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAUSH3AG64A:} USMA-{MSV3dP58418G64A:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972518C>G" "" "VUS" "ACMG" "0000378610" "20" "75" "3" "150690305" "150690305" "subst" "0" "02416" "CLRN1_000040" "g.150690305C>G" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAUSH3AG64A:} USMA-{MSV3dP58418G64A:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972518C>G" "" "VUS" "ACMG" "0000378611" "10" "75" "3" "150690477" "150690477" "subst" "0" "02416" "CLRN1_000041" "g.150690477T>G" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAUSH3AK7Q:} USMA-{MSV3dP58418p.Lys7Gln:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972690T>G" "" "VUS" "ACMG" "0000378612" "20" "75" "3" "150690477" "150690477" "subst" "0" "02416" "CLRN1_000041" "g.150690477T>G" "" "{PMID:Jiang 2015:26338283}; USMA-{USMAUSH3AK7Q:} USMA-{MSV3dP58418p.Lys7Gln:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972690T>G" "" "VUS" "ACMG" "0000378613" "10" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02428" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Bonnet 2016:27460420}" "" "NM_052995.2:c.300T>G (Tyr100*)" "homozygous; mutation" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378614" "20" "99" "3" "150645894" "150645894" "subst" "0.000708509" "02428" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Bonnet 2016:27460420}" "" "NM_052995.2:c.300T>G (Tyr100*)" "homozygous; mutation" "Germline" "" "rs121908140" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000378615" "10" "99" "3" "150690268" "150690268" "dup" "0" "02428" "CLRN1_000206" "g.150690268dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972481dup" "" "pathogenic" "" "0000378616" "20" "99" "3" "150690268" "150690268" "dup" "0" "02428" "CLRN1_000206" "g.150690268dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972481dup" "" "pathogenic" "" "0000378617" "1" "99" "3" "150690322" "150690322" "del" "0" "02428" "CLRN1_000207" "g.150690322del" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs773036590" "0" "" "" "g.150972535del" "" "pathogenic" "" "0000378618" "10" "99" "3" "150690270" "150690270" "dup" "0" "02428" "CLRN1_000208" "g.150690270dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972483dup" "" "pathogenic" "" "0000378619" "20" "99" "3" "150690270" "150690270" "dup" "0" "02428" "CLRN1_000208" "g.150690270dup" "" "{PMID:Bonnet 2016:27460420}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972483dup" "" "pathogenic" "" "0000378620" "10" "75" "3" "150690266" "150690266" "subst" "0" "02428" "CLRN1_000209" "g.150690266C>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAUSH3AG77E:} USMA-{MSV3dP58418p.Gy77Glu:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972479C>T" "" "VUS" "ACMG" "0000378621" "20" "75" "3" "150690266" "150690266" "subst" "0" "02428" "CLRN1_000209" "g.150690266C>T" "" "{PMID:Bonnet 2016:27460420}; USMA-{USMAUSH3AG77E:} USMA-{MSV3dP58418p.Gy77Glu:}" "" "" "homozygous; mutation" "Germline" "" "" "0" "" "" "g.150972479C>T" "" "VUS" "ACMG" "0000378622" "0" "99" "3" "150645990" "150645990" "subst" "0" "02428" "CLRN1_000210" "g.150645990T>A" "" "{PMID:Bonnet 2016:27460420}" "" "" "heterozygous; mutation" "Germline" "" "rs765085056" "0" "" "" "g.150928203T>A" "" "pathogenic" "" "0000476260" "0" "50" "3" "150645752" "150645752" "subst" "5.28554E-5" "02591" "CLRN1_000235" "g.150645752T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs764632225" "0" "" "" "g.150927965T>C" "" "VUS" "" "0000476261" "0" "50" "3" "150645754" "150645754" "subst" "4.06587E-6" "02591" "CLRN1_000236" "g.150645754G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.150927967G>A" "" "VUS" "" "0000476262" "0" "10" "3" "150658263" "150658263" "subst" "0.000448472" "02591" "CLRN1_000237" "g.150658263A>G" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140407590" "0" "" "" "g.150940476A>G" "" "benign" "" "0000476263" "0" "10" "3" "150658264" "150658264" "subst" "0.0492676" "02591" "CLRN1_000037" "g.150658264G>A" "513/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs16846663" "0" "" "" "g.150940477G>A" "" "benign" "" "0000476264" "0" "50" "3" "150658283" "150658283" "subst" "0" "02591" "CLRN1_000238" "g.150658283T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.150940496T>C" "" "VUS" "" "0000476265" "0" "50" "3" "150658286" "150658286" "subst" "7.73025E-6" "02591" "CLRN1_000239" "g.150658286T>C" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs536003609" "0" "" "" "g.150940499T>C" "" "VUS" "" "0000476266" "0" "90" "3" "150659395" "150659395" "subst" "0.000138181" "02591" "CLRN1_000240" "g.150659395C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs779258184" "0" "" "" "g.150941608C>T" "" "pathogenic" "" "0000476267" "0" "50" "3" "150659452" "150659452" "subst" "0" "02591" "CLRN1_000241" "g.150659452G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.150941665G>A" "" "VUS" "" "0000476268" "0" "90" "3" "150690241" "150690241" "subst" "0" "02591" "CLRN1_000242" "g.150690241A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.150972454A>G" "" "pathogenic" "" "0000476269" "0" "50" "3" "150690476" "150690476" "subst" "0.000195152" "02591" "CLRN1-AS1_000001" "g.150690476T>A" "17/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3796241" "0" "" "" "g.150972689T>A" "" "VUS" "" "0000476270" "0" "50" "3" "150690487" "150690487" "subst" "0.000581745" "02591" "CLRN1-AS1_000002" "g.150690487G>T" "13/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs187218889" "0" "" "" "g.150972700G>T" "" "VUS" "" "0000477466" "3" "10" "3" "150658264" "150658264" "subst" "0.0492676" "02591" "CLRN1_000037" "g.150658264G>A" "107/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs16846663" "0" "" "" "g.150940477G>A" "" "benign" "" "0000477467" "3" "50" "3" "150690487" "150690487" "subst" "0.000581745" "02591" "CLRN1-AS1_000002" "g.150690487G>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs187218889" "0" "" "" "g.150972700G>T" "" "VUS" "" "0000487552" "21" "70" "3" "150690455" "150690455" "subst" "0" "03335" "CLRN1_000243" "g.150690455C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.150972668C>T" "" "pathogenic (recessive)" "" "0000518304" "0" "30" "3" "150645762" "150645762" "subst" "0.000390333" "02330" "CLRN1_000221" "g.150645762G>A" "" "" "" "CLRN1(NM_001195794.1):c.699C>T (p.D233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150927975G>A" "" "likely benign" "" "0000518305" "0" "10" "3" "150658263" "150658263" "subst" "0.000448472" "02330" "CLRN1_000237" "g.150658263A>G" "" "" "" "CLRN1(NM_001256819.2):c.*47+1106T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150940476A>G" "" "benign" "" "0000518306" "0" "10" "3" "150658308" "150658308" "subst" "0.000494736" "02330" "CLRN1_000227" "g.150658308T>A" "" "" "" "CLRN1(NM_001256819.2):c.*47+1061A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150940521T>A" "" "benign" "" "0000518307" "0" "50" "3" "150659480" "150659480" "subst" "4.87642E-5" "01943" "CLRN1_000244" "g.150659480G>A" "" "" "" "CLRN1(NM_001256819.1):c.494C>T (p.P165L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150941693G>A" "" "VUS" "" "0000518308" "0" "30" "3" "150661734" "150661734" "subst" "0.0012133" "01943" "CLRN1_000245" "g.150661734G>A" "" "" "" "CLRN1(NM_001256819.1):c.298C>T (p.H100Y, p.(His100Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150943947G>A" "" "likely benign" "" "0000518309" "0" "50" "3" "150661763" "150661763" "subst" "0" "02330" "CLRN1_000246" "g.150661763G>A" "" "" "" "CLRN1(NM_001256819.2):c.269C>T (p.P90L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150943976G>A" "" "VUS" "" "0000518310" "0" "50" "3" "150690482" "150690482" "subst" "0" "01943" "CLRN1-AS1_000003" "g.150690482T>C" "" "" "" "CLRN1(NM_001256819.1):c.14A>G (p.Q5R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150972695T>C" "" "VUS" "" "0000621200" "0" "30" "3" "150690270" "150690270" "subst" "0.000174622" "01943" "CLRN1_000247" "g.150690270A>G" "" "" "" "CLRN1(NM_001256819.1):c.226T>C (p.L76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.150972483A>G" "" "likely benign" "" "0000651106" "1" "90" "3" "150690307" "150690307" "subst" "1.21833E-5" "03575" "CLRN1_000009" "g.150690307G>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs111033267}" "Germline" "" "rs111033267" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000651107" "1" "50" "3" "150690784" "150690784" "subst" "0.00603396" "03575" "CLRN1-AS1_000004" "g.150690784C>T" "13/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs55842922}" "Germline" "" "rs55842922" "0" "" "" "g.150972997C>T" "" "VUS" "" "0000676859" "0" "50" "3" "150645949" "150645949" "subst" "2.84775E-5" "01804" "CLRN1_000222" "g.150645949T>C" "" "" "" "CLRN1(NM_001195794.1):c.512A>G (p.E171G, p.(Glu171Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676860" "0" "30" "3" "150661734" "150661734" "subst" "0.0012133" "01804" "CLRN1_000245" "g.150661734G>A" "" "" "" "CLRN1(NM_001256819.1):c.298C>T (p.H100Y, p.(His100Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684837" "3" "90" "3" "150645803" "150645803" "subst" "2.84694E-5" "00004" "CLRN1_000015" "g.150645803G>A" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000684841" "3" "90" "3" "150645803" "150645803" "subst" "2.84694E-5" "00004" "CLRN1_000015" "g.150645803G>A" "" "{PMID:Santana 2019:31231422}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000685107" "0" "90" "3" "150645894" "150645894" "subst" "0.000708509" "00004" "CLRN1_000005" "g.150645894A>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685108" "0" "70" "3" "150645985" "150645985" "subst" "0" "00004" "CLRN1_000248" "g.150645985G>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685109" "0" "90" "3" "150659368" "150659368" "subst" "8.13418E-6" "00004" "CLRN1_000233" "g.150659368C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685110" "0" "90" "3" "150659444" "150659453" "del" "0" "00004" "CLRN1_000249" "g.150659444_150659453del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685111" "0" "90" "3" "150690352" "150690352" "subst" "0.000263974" "00004" "CLRN1_000007" "g.150690352A>C" "15/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000710271" "1" "90" "3" "150690307" "150690307" "subst" "1.21833E-5" "00006" "CLRN1_000009" "g.150690307G>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.150972520G>T" "" "pathogenic" "" "0000710350" "2" "70" "3" "150690455" "150690455" "subst" "0" "00006" "CLRN1_000243" "g.150690455C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM2, PM3, PM5, PP3, PP4" "Germline" "" "" "0" "" "" "g.150972668C>T" "" "likely pathogenic" "ACMG" "0000713259" "0" "90" "3" "150690307" "150690307" "subst" "1.21833E-5" "00000" "CLRN1_000009" "g.150690307G>T" "" "{PMID:Carss 2017:28041643}" "" "3:150690307G>T ENST00000328863.4:c.189C>A (Tyr63Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713689" "0" "90" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Carss 2017:28041643}" "" "3:150690352A>C ENST00000328863.4:c.144T>G (Asn48Lys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000719249" "0" "50" "3" "150645985" "150645985" "subst" "4.48266E-5" "01943" "CLRN1_000250" "g.150645985G>A" "" "" "" "CLRN1(NM_001195794.1):c.476C>T (p.S159F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719250" "0" "50" "3" "150659401" "150659401" "subst" "7.72157E-5" "01943" "CLRN1_000251" "g.150659401G>A" "" "" "" "CLRN1(NM_001195794.1):c.401C>T (p.P134L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719251" "0" "50" "3" "150659402" "150659402" "subst" "8.12783E-6" "01943" "CLRN1_000252" "g.150659402G>A" "" "" "" "CLRN1(NM_001195794.1):c.400C>T (p.P134S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719252" "0" "90" "3" "150690347" "150690348" "ins" "9.74691E-5" "01943" "CLRN1_000253" "g.150690347_150690348insGACA" "" "" "" "CLRN1(NM_001256819.1):c.148_149insTGTC (p.S50Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719253" "0" "50" "3" "150690354" "150690354" "subst" "4.06111E-6" "01943" "CLRN1_000254" "g.150690354T>C" "" "" "" "CLRN1(NM_001256819.1):c.142A>G (p.N48D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731487" "1" "90" "3" "150659443" "150659443" "subst" "2.84421E-5" "00000" "CLRN1_000004" "g.150659443A>T" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.150941656A>T" "" "pathogenic (recessive)" "" "0000731514" "2" "90" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.150928107A>C" "" "pathogenic (recessive)" "" "0000733260" "3" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.150972565A>C" "" "likely pathogenic" "" "0000735605" "0" "90" "3" "150690378" "150690378" "subst" "7.31006E-5" "00000" "CLRN1_000011" "g.150690378A>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_174878.2:118T>G (Cys40Gly)" "" "Germline" "" "" "0" "" "" "g.150972591A>C" "" "pathogenic" "" "0000735727" "0" "90" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "NM_174878.2:528T>G (Tyr176*)" "" "Germline" "" "" "0" "" "" "g.150928107A>C" "" "pathogenic" "" "0000735827" "3" "70" "3" "150659549" "150659549" "subst" "0" "00000" "CLRN1_000255" "g.150659549C>T" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150941762C>T" "" "likely pathogenic" "" "0000736747" "3" "90" "3" "150659549" "150659549" "subst" "0" "00000" "CLRN1_000255" "g.150659549C>T" "" "{PMID:Dad 2016:27957503}" "" "254-1G>A; IVS1-1G>A" "" "Germline" "" "" "0" "" "" "g.150941762C>T" "" "pathogenic (recessive)" "" "0000760243" "0" "70" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.150928107A>C" "" "likely pathogenic" "" "0000760312" "3" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.150972565A>C" "" "likely pathogenic" "" "0000760387" "0" "50" "3" "150690398" "150690398" "subst" "0" "00000" "CLRN1_000256" "g.150690398C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.150972611C>T" "" "VUS" "" "0000760466" "0" "70" "3" "150659443" "150659443" "subst" "2.84421E-5" "00000" "CLRN1_000004" "g.150659443A>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.150941656A>T" "" "likely pathogenic" "" "0000760520" "0" "70" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.150928107A>C" "" "likely pathogenic" "" "0000763459" "3" "90" "3" "150645836" "150645836" "del" "0" "02404" "CLRN1_000257" "g.150645836del" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150928049del" "" "pathogenic (recessive)" "ACMG" "0000763461" "3" "50" "3" "150645836" "150645836" "subst" "0" "02404" "CLRN1_000258" "g.150645836A>T" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000765230" "3" "90" "3" "150659499" "150659503" "del" "0" "00000" "CLRN1_000018" "g.150659499_150659503del" "" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Germline" "" "" "0" "" "" "g.150941712_150941716del" "" "pathogenic" "" "0000784440" "0" "50" "3" "150690487" "150690487" "subst" "0.000581745" "00000" "CLRN1-AS1_000002" "g.150690487G>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs187218889" "0" "" "" "g.150972700G>T" "" "VUS" "" "0000784459" "0" "50" "3" "150690237" "150690237" "subst" "8.12671E-6" "00000" "CLRN1_000259" "g.150690237A>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.150972450A>G" "" "VUS" "" "0000784501" "0" "50" "3" "150690487" "150690487" "subst" "0.000581745" "00000" "CLRN1-AS1_000002" "g.150690487G>T" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs187218889" "0" "" "" "g.150972700G>T" "" "VUS" "" "0000786344" "3" "90" "3" "150690306" "150690306" "subst" "0" "00000" "CLRN1_000039" "g.150690306C>T" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.150972519C>T" "" "pathogenic" "" "0000787680" "1" "70" "3" "150690347" "150690347" "subst" "0" "00000" "CLRN1_000260" "g.150690347G>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.150972560G>T" "" "likely pathogenic" "" "0000787724" "2" "70" "3" "150690237" "150690237" "subst" "8.12671E-6" "00000" "CLRN1_000259" "g.150690237A>G" "" "0" "" "" "" "Germline" "yes" "" "0" "" "" "g.150972450A>G" "" "likely pathogenic" "" "0000788349" "0" "50" "3" "150659395" "150659395" "subst" "0.000138181" "00000" "CLRN1_000240" "g.150659395C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G407A" "" "Germline" "" "" "0" "" "" "g.150941608C>T" "" "VUS" "" "0000789859" "0" "70" "3" "150690398" "150690398" "subst" "0" "00000" "CLRN1_000256" "g.150690398C>T" "" "{PMID:Avela 2019:31087526}" "" "c.98G>A" "Check also: Mckie 2001" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000789860" "0" "70" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Avela 2019:31087526}" "" "c.567T>G" "Check also: Joensuu 2001" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000789861" "0" "70" "3" "150659443" "150659443" "subst" "2.84421E-5" "00000" "CLRN1_000004" "g.150659443A>T" "" "{PMID:Avela 2019:31087526}" "" "c.359T>A" "Check also: Joensuu 2001" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000789862" "0" "70" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Avela 2019:31087526}" "" "c.567T>G" "Check also: Joensuu 2001" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793893" "3" "90" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Foote-2019:10480356}" "" "c.144T>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000794743" "3" "90" "3" "150660197" "150660197" "subst" "0" "00000" "CLRN1_000223" "g.150660197A>C" "" "{PMID:Patel 2018:30054919}" "" "NM_174878.2:c.254-649T>G" "published as other transcript - NM_174878.2" "Germline" "yes" "rs976853535" "0" "" "" "g.150942410A>C" "RCV001034749" "pathogenic (recessive)" "ACMG" "0000795925" "0" "70" "3" "150659401" "150659401" "subst" "7.72157E-5" "00000" "CLRN1_000251" "g.150659401G>A" "" "{PMID:Schorderet-2013:23484092}" "" "p.CLRN1-P134L" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000797553" "0" "70" "3" "150658273" "150658280" "dup" "0" "00000" "CLRN1_000261" "g.150658273_150658280dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "CACNA1F c.818-1G>A, p.(?), CLRN1 c.460_467dup, p.(Gln157Thrfs*12)" "" "Germline" "?" "" "0" "" "" "g.150940486_150940493dup" "" "likely pathogenic" "ACMG" "0000797974" "0" "70" "3" "150658308" "150658308" "subst" "0.000494736" "00000" "CLRN1_000227" "g.150658308T>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CLRN1 c.434-2A>T, p.(?)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.150940521T>A" "" "likely pathogenic" "ACMG" "0000810877" "0" "30" "3" "150644685" "150644685" "subst" "0.00120242" "00000" "CLRN1_000262" "g.150644685C>T" "<0.01" "{PMID:Anasagasti-2013:24416769}" "" "c.*1038G>A" "" "Germline" "yes" "rs201534956" "0" "" "" "" "" "likely benign (recessive)" "" "0000810931" "0" "30" "3" "150690784" "150690784" "subst" "0.00603396" "00000" "CLRN1-AS1_000004" "g.150690784C>T" "0.01" "{PMID:Anasagasti-2013:24416769}" "" "c.-289G>A" "" "Germline" "yes" "rs55842922" "0" "" "" "" "" "likely benign (recessive)" "" "0000812990" "3" "70" "3" "150690308" "150690308" "subst" "0" "00000" "CLRN1_000263" "g.150690308T>G" "" "{PMID:Jaffal 2019:31888296}" "" "c.188A > C, p. (Tyr63Ser)" "homozygous" "Germline" "yes" "" "0" "" "" "g.150972521T>G" "" "likely pathogenic" "ACMG" "0000813853" "0" "70" "3" "150690378" "150690378" "subst" "7.31006E-5" "00000" "CLRN1_000011" "g.150690378A>C" "" "{PMID:Jiman 2020:31836858}" "" "CLRN1(USH3A);NM_001195794.1;c.[118T>G];[65T>A];p.[(Cys40Gly)];[(Leu22His)]" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.150972591A>C" "" "likely pathogenic" "" "0000813854" "0" "70" "3" "150690431" "150690431" "subst" "0" "00000" "CLRN1_000264" "g.150690431A>T" "" "{PMID:Jiman 2020:31836858}" "" "CLRN1(USH3A);NM_001195794.1;c.[118T>G];[65T>A];p.[(Cys40Gly)];[(Leu22His)]" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.150972644A>T" "" "likely pathogenic" "" "0000813861" "3" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Jiman 2020:31836858}" "" "CLRN1(USH3A);NM_001195794.1;c.[144T>G];[144T>G]p.[(Asn48Lys)];[(Asn48Lys)]" "homozygous" "Unknown" "?" "" "0" "" "" "g.150972565A>C" "" "likely pathogenic" "" "0000814784" "3" "70" "3" "150690237" "150690237" "subst" "8.12671E-6" "00000" "CLRN1_000259" "g.150690237A>G" "" "{PMID:Dan 2020:31960602}" "" "CLRN1 c.253+6T>C, -" "homozygous" "Germline" "yes" "" "0" "" "" "g.150972450A>G" "" "likely pathogenic" "ACMG" "0000814859" "3" "90" "3" "150659368" "150659368" "subst" "8.13418E-6" "00000" "CLRN1_000233" "g.150659368C>T" "" "{PMID:Abu-Ameerh 2020:31968401}" "" "c.433+1G>A, NA" "" "Germline" "yes" "rs201205811" "0" "" "" "g.150941581C>T" "" "pathogenic (recessive)" "ACMG" "0000814860" "3" "90" "3" "150659368" "150659368" "subst" "8.13418E-6" "00000" "CLRN1_000233" "g.150659368C>T" "" "{PMID:Abu-Ameerh 2020:31968401}" "" "c.433+1G>A, NA" "" "Germline" "yes" "rs201205811" "0" "" "" "g.150941581C>T" "" "pathogenic (recessive)" "ACMG" "0000814861" "3" "90" "3" "150659368" "150659368" "subst" "8.13418E-6" "00000" "CLRN1_000233" "g.150659368C>T" "" "{PMID:Abu-Ameerh 2020:31968401}" "" "c.433+1G>A, NA" "" "Germline" "yes" "rs201205811" "0" "" "" "g.150941581C>T" "" "pathogenic (recessive)" "ACMG" "0000814862" "3" "90" "3" "150659368" "150659368" "subst" "8.13418E-6" "00000" "CLRN1_000233" "g.150659368C>T" "" "{PMID:Abu-Ameerh 2020:31968401}" "" "c.433+1G>A, NA" "" "Germline" "yes" "rs201205811" "0" "" "" "g.150941581C>T" "" "pathogenic (recessive)" "ACMG" "0000814863" "3" "50" "3" "150659479" "150659479" "subst" "0" "00000" "CLRN1_000265" "g.150659479A>G" "" "{PMID:Abu-Ameerh 2020:31968401}" "" "c.323T>C, p.Leu108Pro" "" "Germline" "yes" "" "0" "" "" "g.150941692A>G" "" "VUS" "ACMG" "0000814864" "3" "50" "3" "150659479" "150659479" "subst" "0" "00000" "CLRN1_000265" "g.150659479A>G" "" "{PMID:Abu-Ameerh 2020:31968401}" "" "c.323T>C, p.Leu108Pro" "" "Germline" "yes" "" "0" "" "" "g.150941692A>G" "" "VUS" "ACMG" "0000815555" "0" "50" "3" "150659401" "150659401" "subst" "7.72157E-5" "00000" "CLRN1_000251" "g.150659401G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CLRN1:NM_174878 c.C401T, p.P134L" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.150941614G>A" "" "VUS" "ACMG" "0000816182" "0" "50" "3" "150690369" "150690369" "subst" "8.12262E-6" "00000" "CLRN1_000016" "g.150690369C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "CLRN1 c.127G>A, p.Gly43Arg" "Classified by LMM as likely path, no supporting evidence provided, heterozygous" "Unknown" "?" "" "0" "" "" "g.150972582C>T" "" "VUS" "" "0000816486" "0" "50" "3" "150659512" "150659512" "subst" "0" "00000" "CLRN1_000266" "g.150659512A>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.290T>A, p.Ile97Asn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.150941725A>T" "" "VUS" "" "0000816815" "3" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Jauregui 2020:32098976}" "" "CLRN1 c.144T>G, p.N48K" "homozygous" "Unknown" "?" "" "0" "" "" "g.150972565A>C" "" "likely pathogenic" "" "0000816816" "3" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Jauregui 2020:32098976}" "" "CLRN1 c.144T>G, p.N48K" "homozygous" "Unknown" "?" "" "0" "" "" "g.150972565A>C" "" "likely pathogenic" "" "0000816893" "0" "50" "3" "150659401" "150659401" "subst" "7.72157E-5" "02416" "CLRN1_000251" "g.150659401G>A" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs768357756" "0" "" "" "" "" "VUS" "ACMG" "0000817007" "0" "50" "3" "150659401" "150659401" "subst" "7.72157E-5" "02416" "CLRN1_000251" "g.150659401G>A" "" "Mansard 2021, submitted" "" "" "" "Germline" "" "rs768357756" "0" "" "" "" "" "VUS" "ACMG" "0000826443" "0" "50" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Khalaileh-2018:29490346}" "" "c.144T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826444" "0" "50" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Khalaileh-2018:29490346}" "" "c.144T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826445" "0" "50" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Khalaileh-2018:29490346}" "" "c.144T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826446" "0" "50" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Khalaileh-2018:29490346}" "" "c.144T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826447" "0" "50" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Khalaileh-2018:29490346}" "" "c.144T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826448" "0" "50" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Khalaileh-2018:29490346}" "" "c.144T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000826449" "0" "50" "3" "150645933" "150645933" "subst" "0" "00000" "CLRN1_000267" "g.150645933A>C" "" "{PMID:Khalaileh-2018:29490346}" "" "c.528T>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000829615" "3" "70" "3" "0" "0" "del" "0" "00000" "RHO_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:p.Q181*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829616" "3" "70" "3" "0" "0" "del" "0" "00000" "RHO_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:p.Q181*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829617" "3" "70" "3" "0" "0" "del" "0" "00000" "RHO_000000" "g.?" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:p.Q181*" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829618" "3" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:p.N48K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829619" "3" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:p.N48K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829620" "3" "70" "3" "150659550" "150659550" "subst" "0" "00000" "CLRN1_000268" "g.150659550T>C" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:c.254-2A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829621" "0" "70" "3" "150690369" "150690369" "subst" "0" "00000" "CLRN1_000269" "g.150690369C>G" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:p.G43R" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000829622" "0" "70" "3" "150690352" "150690352" "subst" "0.000263974" "00000" "CLRN1_000007" "g.150690352A>C" "" "{PMID:Wafa-2021:33089500}" "" "USH3A:p.N48K" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000846893" "1" "70" "3" "150690398" "150690398" "subst" "0" "00000" "CLRN1_000256" "g.150690398C>T" "" "{PMID:Avela 2019:31087526}" "" "CLRN1 c.98G>A , p.(Trp33Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.150972611C>T" "" "likely pathogenic" "" "0000846894" "1" "70" "3" "150659443" "150659443" "subst" "2.84421E-5" "00000" "CLRN1_000004" "g.150659443A>T" "" "{PMID:Avela 2019:31087526}" "" "CLRN1 c.359T>A , p.(Met120Lys)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.150941656A>T" "" "likely pathogenic" "" "0000846930" "2" "70" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Avela 2019:31087526}" "" "CLRN1 c.567T>G, p.(Tyr189Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.150928107A>C" "" "likely pathogenic" "" "0000846931" "2" "70" "3" "150645894" "150645894" "subst" "0.000708509" "00000" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Avela 2019:31087526}" "" "CLRN1 c.567T>G, p.(Tyr189Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.150928107A>C" "" "likely pathogenic" "" "0000847441" "3" "90" "3" "150660197" "150660197" "subst" "0" "00000" "CLRN1_000223" "g.150660197A>C" "" "" "" "c.254-649T>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847442" "3" "90" "3" "150660197" "150660197" "subst" "0" "00000" "CLRN1_000223" "g.150660197A>C" "" "" "" "c.254-649T>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847443" "3" "90" "3" "150660197" "150660197" "subst" "0" "00000" "CLRN1_000223" "g.150660197A>C" "" "" "" "c.254-649T>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847444" "3" "90" "3" "150660197" "150660197" "subst" "0" "00000" "CLRN1_000223" "g.150660197A>C" "" "" "" "c.254-649T>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000847445" "3" "90" "3" "150660197" "150660197" "subst" "0" "00000" "CLRN1_000223" "g.150660197A>C" "" "" "" "c.254-649T>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000916027" "3" "70" "4" "0" "0" "" "0" "04436" "TRAPPC11_000000" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(507+1_508-1)_(*136+?)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916424" "3" "50" "3" "150645949" "150645949" "subst" "2.84775E-5" "04436" "CLRN1_000222" "g.150645949T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.512A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000917029" "0" "77" "3" "150690352" "150690352" "subst" "0.000263974" "00110" "CLRN1_000007" "g.150690352A>C" "" "" "" "" "PS3_M, PM3_VS" "SUMMARY record" "" "rs111033258" "0" "" "" "g.150972565A>C" "" "likely pathogenic" "ACMG" "0000958746" "3" "90" "3" "150645894" "150645894" "subst" "0.000708509" "00006" "CLRN1_000005" "g.150645894A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.150928107A>C" "4392" "pathogenic (recessive)" "ACMG" "0000958786" "0" "70" "3" "150690378" "150690378" "subst" "7.31006E-5" "00006" "CLRN1_000011" "g.150690378A>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PM1_SUPPORTING, PP2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.150972591A>C" "4399" "likely pathogenic (recessive)" "ACMG" "0000959242" "0" "90" "3" "150690344" "150690347" "delins" "0" "00006" "CLRN1_000003" "g.150690344_150690347delinsATTGGACA" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.150972557_150972560delinsATTGGACA" "1275768" "pathogenic (recessive)" "ACMG" ## 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 CLRN1 ## Count = 575 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000246189" "00025402" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(=)" "p.(=)" "" "" "0000246189" "00025298" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(=)" "p.(=)" "" "" "0000266848" "00025402" "90" "254" "-2132" "254" "-2132" "c.254-2132C>T" "r.(=)" "p.(=)" "" "" "0000266848" "00025298" "90" "254" "-2132" "254" "-2132" "c.254-2132C>T" "r.(=)" "p.(=)" "" "" "0000273627" "00025402" "50" "254" "-2078" "254" "-2078" "c.254-2078G>A" "r.(=)" "p.(=)" "" "" "0000273627" "00025298" "50" "254" "-2078" "254" "-2078" "c.254-2078G>A" "r.(=)" "p.(=)" "" "" "0000273628" "00025402" "50" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Glu171Gly)" "" "" "0000273628" "00025298" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Glu158Gly)" "" "" "0000273629" "00025402" "30" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Asp233=)" "" "" "0000273629" "00025298" "30" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Asp220=)" "" "" "0000337243" "00025402" "50" "434" "-2" "434" "-2" "c.434-2A>T" "r.spl?" "p.?" "" "" "0000337243" "00025298" "50" "433" "1061" "433" "1061" "c.433+1061A>T" "r.(=)" "p.(=)" "" "" "0000339471" "00025402" "10" "57" "0" "57" "0" "c.57A>T" "r.(?)" "p.(Ala19=)" "" "" "0000339471" "00025298" "10" "57" "0" "57" "0" "c.57A>T" "r.(?)" "p.(Ala19=)" "" "" "0000344384" "00025402" "70" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "" "" "0000344384" "00025298" "70" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "" "" "0000344954" "00025402" "50" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Gln73Arg)" "" "" "0000344954" "00025298" "50" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Gln73Arg)" "" "" "0000347736" "00025402" "70" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "" "" "0000347736" "00025298" "70" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "" "" "0000349065" "00025402" "90" "149" "0" "152" "0" "c.149_152delinsTGTCCAAT" "r.(?)" "p.(Ser50LeufsTer12)" "" "" "0000349065" "00025298" "90" "149" "0" "152" "0" "c.149_152delinsTGTCCAAT" "r.(?)" "p.(Ser50LeufsTer12)" "" "" "0000349953" "00025402" "90" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189Ter)" "" "" "0000349953" "00025298" "90" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176Ter)" "3" "" "0000358203" "00025298" "90" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000358204" "00025298" "90" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000358205" "00025298" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl" "p.?" "" "" "0000358418" "00025298" "90" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000378243" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378244" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378245" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378246" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378247" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378248" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378249" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378250" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378251" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378252" "00025298" "99" "368" "0" "368" "0" "c.368C>A" "r.(?)" "p.(Ala123Asp)" "2" "" "0000378253" "00025298" "99" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Ile168Asnfs*5)" "3" "" "0000378254" "00025298" "99" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Ile168Asnfs*5)" "3" "" "0000378255" "00025298" "99" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Ile168Asnfs*5)" "3" "" "0000378256" "00025298" "99" "504" "0" "504" "0" "c.504dup" "r.(?)" "p.(Ile168Asnfs*5)" "3" "" "0000378257" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378258" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378259" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378260" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378261" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378262" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378263" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378264" "00025298" "99" "149" "0" "152" "0" "c.149_152del" "r.(?)" "p.(Ser50Cysfs*21)" "1" "" "0000378265" "00025298" "99" "149" "0" "152" "0" "c.149_152delinsTGTCCAAT" "r.(?)" "p.(Ser50LeufsTer12)" "1" "" "0000378266" "00025298" "99" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "2" "Transmembrane 2 (101-121)" "0000378267" "00025298" "99" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "2" "Transmembrane 2 (101-121)" "0000378268" "00025298" "99" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "2" "Transmembrane 2 (101-121)" "0000378269" "00025298" "99" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "2" "Transmembrane 2 (101-121)" "0000378270" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378271" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378272" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378273" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378274" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378275" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378276" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378277" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378278" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378279" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378280" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378281" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378282" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378283" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378284" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378285" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378286" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378287" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378288" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378289" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378290" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378291" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378292" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378293" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378294" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378295" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378296" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378297" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378298" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378299" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378300" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378301" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378302" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378303" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378304" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378305" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378306" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378307" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378308" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378309" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378310" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378311" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378312" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378313" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378314" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378315" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378316" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378317" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378318" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378319" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378320" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378321" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378322" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378323" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378324" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378325" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378326" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378327" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378328" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378329" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378330" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378331" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378332" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378333" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378334" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378335" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378336" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378337" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378338" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378339" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378340" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378341" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378342" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378343" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378344" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378345" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378346" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378347" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378348" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378349" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378350" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378351" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378352" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378353" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378354" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378355" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378356" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378357" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378358" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378359" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378360" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378361" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378362" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378363" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378364" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378365" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378366" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378367" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378368" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378369" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378370" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378371" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378372" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378373" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378374" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378375" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378376" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378377" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378378" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378379" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378380" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378381" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378382" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378383" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378384" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378385" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378386" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378387" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378388" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378389" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378390" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378391" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378392" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378393" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378394" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378395" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378396" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378397" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378398" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378399" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378400" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378401" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378402" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378403" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378404" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378405" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378406" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378407" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378408" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378409" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378410" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378411" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378412" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378413" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378414" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378415" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378416" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378417" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378418" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378419" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378420" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378421" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378422" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378423" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378424" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378425" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378426" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378427" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378428" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378429" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378431" "00025298" "99" "459" "0" "461" "0" "c.459_461del" "r.(?)" "p.(Ile153_Leu154delinsMet)" "3" "Transmembrane 3 (135-155)" "0000378432" "00025298" "99" "459" "0" "461" "0" "c.459_461del" "r.(?)" "p.(Ile153_Leu154delinsMet)" "3" "Transmembrane 3 (135-155)" "0000378433" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378434" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378435" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378436" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378437" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378438" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378439" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378440" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378441" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378442" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378443" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378444" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378445" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378446" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378447" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378448" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378449" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378450" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378451" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378452" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378453" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378454" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378455" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378456" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378457" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378458" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378459" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378460" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378461" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378462" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378463" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378464" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378465" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378466" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378467" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378468" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378469" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378470" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378471" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378472" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378473" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378474" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378475" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378476" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378477" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378478" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378479" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378480" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378481" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378482" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378483" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378484" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378485" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378486" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378487" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378488" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378489" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378490" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378491" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378492" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378493" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378494" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378495" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378496" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378497" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378498" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378499" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378500" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378501" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378502" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378503" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378504" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378505" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378506" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378507" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378508" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378509" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378510" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378511" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378512" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378513" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378514" "00025298" "99" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000378515" "00025298" "55" "161" "0" "161" "0" "c.161T>C" "r.(?)" "p.(Leu54Pro)" "1" "" "0000378516" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378517" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378518" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378519" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378520" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378521" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378522" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378523" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378524" "00025298" "99" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "1" "" "0000378525" "00025298" "99" "188" "0" "210" "0" "c.188_210del" "r.(?)" "p.(Tyr63Cysfs*59)" "1" "" "0000378526" "00025298" "99" "188" "0" "210" "0" "c.188_210del" "r.(?)" "p.(Tyr63Cysfs*59)" "1" "" "0000378527" "00025298" "99" "188" "0" "210" "0" "c.188_210del" "r.(?)" "p.(Tyr63Cysfs*59)" "1" "" "0000378528" "00025298" "99" "188" "0" "210" "0" "c.188_210del" "r.(?)" "p.(Tyr63Cysfs*59)" "1" "" "0000378531" "00025298" "99" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "1" "" "0000378532" "00025298" "99" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "1" "" "0000378533" "00025298" "99" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Ser105Pro)" "2" "Transmembrane 2 (101-121)" "0000378534" "00025298" "99" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Ser105Pro)" "2" "Transmembrane 2 (101-121)" "0000378535" "00025298" "99" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Ser105Pro)" "2" "Transmembrane 2 (101-121)" "0000378536" "00025298" "99" "313" "0" "313" "0" "c.313T>C" "r.(?)" "p.(Ser105Pro)" "2" "Transmembrane 2 (101-121)" "0000378537" "00025298" "99" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Asp55Glufs*17)" "1" "" "0000378538" "00025298" "99" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Asp55Glufs*17)" "1" "" "0000378539" "00025298" "99" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Asp55Glufs*17)" "1" "" "0000378540" "00025298" "99" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Asp55Glufs*17)" "1" "" "0000378541" "00025298" "99" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Asp55Glufs*17)" "1" "" "0000378542" "00025298" "99" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Asp55Glufs*17)" "1" "" "0000378543" "00025298" "99" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Pro)" "3" "Transmembrane 3 (135-155)" "0000378544" "00025298" "99" "449" "0" "449" "0" "c.449T>C" "r.(?)" "p.(Leu150Pro)" "3" "Transmembrane 3 (135-155)" "0000378545" "00025298" "99" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "3" "" "0000378546" "00025298" "99" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "3" "" "0000378547" "00025298" "99" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "3" "" "0000378548" "00025298" "99" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "3" "" "0000378549" "00025298" "99" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "3" "" "0000378550" "00025298" "99" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "3" "" "0000378557" "00025298" "99" "301" "0" "305" "0" "c.301_305del" "r.(?)" "p.(Val101Serfs*27)" "2" "Transmembrane 2 (101-121)" "0000378558" "00025298" "99" "301" "0" "305" "0" "c.301_305del" "r.(?)" "p.(Val101Serfs*27)" "2" "Transmembrane 2 (101-121)" "0000378559" "00025298" "99" "301" "0" "305" "0" "c.301_305del" "r.(?)" "p.(Val101Serfs*27)" "2" "Transmembrane 2 (101-121)" "0000378560" "00025298" "99" "301" "0" "305" "0" "c.301_305del" "r.(?)" "p.(Val101Serfs*27)" "2" "Transmembrane 2 (101-121)" "0000378561" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378562" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378563" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378564" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378565" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378566" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378567" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378568" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378569" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378570" "00025298" "95" "461" "0" "461" "0" "c.461T>G" "r.(?)" "p.(Leu154Trp)" "3" "Transmembrane 3 (135-155)" "0000378571" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378572" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378573" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378574" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378575" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378576" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378577" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378578" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378579" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378580" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378581" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378582" "00025298" "95" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "1" "" "0000378583" "00025298" "15" "976" "0" "976" "0" "c.*277G>A" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378584" "00025298" "15" "976" "0" "976" "0" "c.*277G>A" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378585" "00025298" "15" "976" "0" "976" "0" "c.*277G>A" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378586" "00025298" "99" "149" "0" "152" "0" "c.149_152delinsTGTCCAAT" "r.(?)" "p.(Ser50Leufs*12)" "1" "" "0000378587" "00025298" "99" "149" "0" "152" "0" "c.149_152delinsTGTCCAAT" "r.(?)" "p.(Ser50Leufs*12)" "1" "" "0000378588" "00025298" "15" "1424" "0" "1424" "0" "c.*725A>G" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378589" "00025298" "15" "-91" "0" "-91" "0" "c.-91C>T" "r.(=)" "p.(=)" "1" "" "0000378590" "00025298" "15" "1106" "0" "1106" "0" "c.*407G>A" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378591" "00025298" "15" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(=)" "1" "" "0000378592" "00025298" "15" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(=)" "1" "" "0000378593" "00025298" "11" "6" "0" "6" "0" "c.6A>C" "r.(?)" "p.(=)" "1" "" "0000378594" "00025298" "11" "6" "0" "6" "0" "c.6A>C" "r.(?)" "p.(=)" "1" "" "0000378595" "00025298" "15" "-290" "0" "-290" "0" "c.-290G>A" "r.(=)" "p.(=)" "1" "" "0000378596" "00025298" "15" "1615" "0" "1615" "0" "c.*916G>A" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378597" "00025298" "15" "1663" "0" "1663" "0" "c.*964C>T" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378598" "00025298" "15" "999" "0" "999" "0" "c.*300T>C" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378599" "00025298" "15" "1726" "0" "1726" "0" "c.*1027T>G" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378600" "00025298" "15" "1890" "0" "1890" "0" "c.*1191T>C" "r.(=)" "p.(=)" "3" "3\'UTR" "0000378601" "00025298" "99" "563" "0" "563" "0" "c.563C>A" "r.(?)" "p.(Ser188*)" "3" "Transmembrane 4 (186-206)" "0000378602" "00025298" "99" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Gly23*)" "1" "Transmembrane 1 (8-28)" "0000378603" "00025298" "99" "67" "0" "67" "0" "c.67G>T" "r.(?)" "p.(Gly23*)" "1" "Transmembrane 1 (8-28)" "0000378604" "00025298" "75" "503" "0" "503" "0" "c.503T>A" "r.(?)" "p.(Ile168Asn)" "3" "" "0000378605" "00025298" "75" "503" "0" "503" "0" "c.503T>A" "r.(?)" "p.(Ile168Asn)" "3" "" "0000378606" "00025298" "11" "433" "1105" "433" "1105" "c.433+1105C>T" "r.(=)" "p.(=)" "2i" "" "0000378607" "00025298" "35" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Gln73Arg)" "1" "" "0000378608" "00025298" "75" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Arg)" "1" "" "0000378609" "00025298" "75" "191" "0" "191" "0" "c.191G>C" "r.(?)" "p.(Gly64Ala)" "1" "" "0000378610" "00025298" "75" "191" "0" "191" "0" "c.191G>C" "r.(?)" "p.(Gly64Ala)" "1" "" "0000378611" "00025298" "75" "19" "0" "19" "0" "c.19A>C" "r.(?)" "p.(Lys7Gln)" "1" "" "0000378612" "00025298" "75" "19" "0" "19" "0" "c.19A>C" "r.(?)" "p.(Lys7Gln)" "1" "" "0000378613" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378614" "00025298" "99" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "3" "" "0000378615" "00025298" "99" "230" "0" "230" "0" "c.230dup" "r.(?)" "p.(Ala78Serfs*52)" "1" "" "0000378616" "00025298" "99" "230" "0" "230" "0" "c.230dup" "r.(?)" "p.(Ala78Serfs*52)" "1" "" "0000378617" "00025298" "99" "176" "0" "176" "0" "c.176del" "r.(?)" "p.(Gly59Valfs*13)" "1" "" "0000378618" "00025298" "99" "227" "0" "227" "0" "c.227dup" "r.(?)" "p.(Leu76Phefs*54)" "1" "" "0000378619" "00025298" "99" "227" "0" "227" "0" "c.227dup" "r.(?)" "p.(Leu76Phefs*54)" "1" "" "0000378620" "00025298" "75" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Gly77Glu)" "1" "" "0000378621" "00025298" "75" "230" "0" "230" "0" "c.230G>A" "r.(?)" "p.(Gly77Glu)" "1" "" "0000378622" "00025298" "99" "434" "-2" "434" "-2" "c.434-2A>T" "r.spl" "p.?" "2i" "" "0000476260" "00025402" "50" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Thr237Ala)" "" "" "0000476260" "00025298" "50" "670" "0" "670" "0" "c.670A>G" "r.(?)" "p.(Thr224Ala)" "" "" "0000476261" "00025402" "50" "707" "0" "707" "0" "c.707C>T" "r.(?)" "p.(Thr236Ile)" "" "" "0000476261" "00025298" "50" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Thr223Ile)" "" "" "0000476262" "00025402" "10" "472" "5" "472" "5" "c.472+5T>C" "r.spl?" "p.?" "" "" "0000476262" "00025298" "10" "433" "1106" "433" "1106" "c.433+1106T>C" "r.(=)" "p.(=)" "" "" "0000476263" "00025402" "10" "472" "4" "472" "4" "c.472+4C>T" "r.spl?" "p.?" "" "" "0000476263" "00025298" "10" "433" "1105" "433" "1105" "c.433+1105C>T" "r.(=)" "p.(=)" "" "" "0000476264" "00025402" "50" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Arg153Gly)" "" "" "0000476264" "00025298" "50" "433" "1086" "433" "1086" "c.433+1086A>G" "r.(=)" "p.(=)" "" "" "0000476265" "00025402" "50" "454" "0" "454" "0" "c.454A>G" "r.(?)" "p.(Thr152Ala)" "" "" "0000476265" "00025298" "50" "433" "1083" "433" "1083" "c.433+1083A>G" "r.(=)" "p.(=)" "" "" "0000476266" "00025402" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Gly136Glu)" "" "" "0000476266" "00025298" "90" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Gly136Glu)" "" "" "0000476267" "00025402" "50" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "" "0000476267" "00025298" "50" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "" "0000476268" "00025402" "90" "253" "2" "253" "2" "c.253+2T>C" "r.spl?" "p.?" "" "" "0000476268" "00025298" "90" "253" "2" "253" "2" "c.253+2T>C" "r.spl?" "p.?" "" "" "0000476269" "00025402" "50" "20" "0" "20" "0" "c.20A>T" "r.(?)" "p.(Lys7Ile)" "" "" "0000476269" "00025298" "50" "20" "0" "20" "0" "c.20A>T" "r.(?)" "p.(Lys7Ile)" "" "" "0000476270" "00025402" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Ser3Arg)" "" "" "0000476270" "00025298" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Ser3Arg)" "" "" "0000477466" "00025402" "10" "472" "4" "472" "4" "c.472+4C>T" "r.spl?" "p.?" "" "" "0000477466" "00025298" "10" "433" "1105" "433" "1105" "c.433+1105C>T" "r.(=)" "p.(=)" "" "" "0000477467" "00025402" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Ser3Arg)" "" "" "0000477467" "00025298" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Ser3Arg)" "" "" "0000487552" "00025402" "70" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Gly14Glu)" "1" "" "0000518304" "00025402" "30" "699" "0" "699" "0" "c.699C>T" "r.(?)" "p.(Asp233=)" "" "" "0000518304" "00025298" "30" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Asp220=)" "" "" "0000518305" "00025402" "10" "472" "5" "472" "5" "c.472+5T>C" "r.spl?" "p.?" "" "" "0000518305" "00025298" "10" "433" "1106" "433" "1106" "c.433+1106T>C" "r.(=)" "p.(=)" "" "" "0000518306" "00025402" "10" "434" "-2" "434" "-2" "c.434-2A>T" "r.spl?" "p.?" "" "" "0000518306" "00025298" "10" "433" "1061" "433" "1061" "c.433+1061A>T" "r.(=)" "p.(=)" "" "" "0000518307" "00025402" "50" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Leu108Phe)" "" "" "0000518307" "00025298" "50" "322" "0" "322" "0" "c.322C>T" "r.(?)" "p.(Leu108Phe)" "" "" "0000518308" "00025402" "30" "254" "-2186" "254" "-2186" "c.254-2186C>T" "r.(=)" "p.(=)" "" "" "0000518308" "00025298" "30" "254" "-2186" "254" "-2186" "c.254-2186C>T" "r.(=)" "p.(=)" "" "" "0000518309" "00025402" "50" "254" "-2215" "254" "-2215" "c.254-2215C>T" "r.(=)" "p.(=)" "" "" "0000518309" "00025298" "50" "254" "-2215" "254" "-2215" "c.254-2215C>T" "r.(=)" "p.(=)" "" "" "0000518310" "00025402" "50" "14" "0" "14" "0" "c.14A>G" "r.(?)" "p.(Gln5Arg)" "" "" "0000518310" "00025298" "50" "14" "0" "14" "0" "c.14A>G" "r.(?)" "p.(Gln5Arg)" "" "" "0000621200" "00025402" "30" "226" "0" "226" "0" "c.226T>C" "r.(?)" "p.(Leu76=)" "" "" "0000621200" "00025298" "30" "226" "0" "226" "0" "c.226T>C" "r.(?)" "p.(Leu76=)" "" "" "0000651106" "00025402" "90" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "" "" "0000651106" "00025298" "90" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "" "" "0000651107" "00025402" "50" "-289" "0" "-289" "0" "c.-289G>A" "r.(=)" "p.(=)" "" "" "0000651107" "00025298" "50" "-289" "0" "-289" "0" "c.-289G>A" "r.(=)" "p.(=)" "" "" "0000676859" "00025402" "50" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Glu171Gly)" "" "" "0000676859" "00025298" "50" "473" "0" "473" "0" "c.473A>G" "r.(?)" "p.(Glu158Gly)" "" "" "0000676860" "00025402" "30" "254" "-2186" "254" "-2186" "c.254-2186C>T" "r.(=)" "p.(=)" "" "" "0000676860" "00025298" "30" "254" "-2186" "254" "-2186" "c.254-2186C>T" "r.(=)" "p.(=)" "" "" "0000684837" "00025298" "90" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "" "" "0000684841" "00025298" "90" "619" "0" "619" "0" "c.619C>T" "r.(?)" "p.(Arg207*)" "" "" "0000685107" "00025402" "90" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "" "" "0000685108" "00025402" "70" "476" "0" "476" "0" "c.476C>A" "r.(?)" "p.(Ser159Tyr)" "" "" "0000685109" "00025402" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl" "p.?" "" "" "0000685110" "00025402" "90" "349" "0" "358" "0" "c.349_358del" "r.(?)" "p.(Ala117Cysfs*16)" "" "" "0000685111" "00025402" "90" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000710271" "00025402" "90" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "" "" "0000710350" "00025402" "70" "41" "0" "41" "0" "c.41G>A" "r.(?)" "p.(Gly14Glu)" "" "" "0000713259" "00025402" "90" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "" "" "0000713259" "00025298" "90" "189" "0" "189" "0" "c.189C>A" "r.(?)" "p.(Tyr63*)" "" "" "0000713689" "00025402" "90" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000713689" "00025298" "90" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000719249" "00025402" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Ser159Phe)" "" "" "0000719249" "00025298" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Ser146Phe)" "" "" "0000719250" "00025402" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "" "0000719250" "00025298" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "" "0000719251" "00025402" "50" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Pro134Ser)" "" "" "0000719251" "00025298" "50" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Pro134Ser)" "" "" "0000719252" "00025402" "90" "148" "0" "149" "0" "c.148_149insTGTC" "r.(?)" "p.(Ser50Leufs*12)" "" "" "0000719252" "00025298" "90" "148" "0" "149" "0" "c.148_149insTGTC" "r.(?)" "p.(Ser50Leufs*12)" "" "" "0000719253" "00025402" "50" "142" "0" "142" "0" "c.142A>G" "r.(?)" "p.(Asn48Asp)" "" "" "0000719253" "00025298" "50" "142" "0" "142" "0" "c.142A>G" "r.(?)" "p.(Asn48Asp)" "" "" "0000731487" "00025402" "90" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "" "" "0000731514" "00025402" "90" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "" "" "0000733260" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000735605" "00025402" "90" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "" "" "0000735605" "00025298" "90" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "" "" "0000735727" "00025402" "90" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "" "" "0000735727" "00025298" "90" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "" "" "0000735827" "00025402" "70" "254" "-1" "254" "-1" "c.254-1G>A" "r.spl" "p.?" "" "" "0000736747" "00025402" "90" "254" "-1" "254" "-1" "c.254-1G>A" "r.spl" "p.?" " " "" "0000760243" "00025402" "70" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "" "" "0000760312" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000760387" "00025402" "50" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Trp33*)" "" "" "0000760466" "00025402" "70" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "" "" "0000760520" "00025402" "70" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "" "" "0000763459" "00025402" "90" "630" "0" "630" "0" "c.630del" "r.(?)" "p.(Phe210Leufs*5)" "4" "" "0000763459" "00025298" "90" "591" "0" "591" "0" "c.591del" "r.(?)" "p.(Phe197Leufs*5)" "" "" "0000763461" "00025402" "50" "625" "0" "625" "0" "c.625T>A" "r.(?)" "p.(Phe209Ile)" "4" "" "0000763461" "00025298" "50" "586" "0" "586" "0" "c.586T>A" "r.(?)" "p.(Phe196Ile)" "" "" "0000765230" "00025402" "90" "301" "0" "305" "0" "c.301_305del" "r.(?)" "p.(Val101Serfs*27)" "" "" "0000784440" "00025402" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Ser3Arg)" "" "" "0000784459" "00025402" "50" "253" "6" "253" "6" "c.253+6T>C" "r.(=)" "p.(=)" "" "" "0000784501" "00025402" "50" "9" "0" "9" "0" "c.9C>A" "r.(?)" "p.(Ser3Arg)" "" "" "0000786344" "00025402" "90" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Arg)" "" "" "0000787680" "00025402" "70" "149" "0" "149" "0" "c.149C>A" "r.(?)" "p.(Ser50Ter)" "" "" "0000787724" "00025402" "70" "253" "6" "253" "6" "c.253+6T>C" "r.(?)" "p.?" "" "" "0000788349" "00025402" "50" "407" "0" "407" "0" "c.407G>A" "r.(?)" "p.(Gly136Glu)" "2" "" "0000789859" "00025402" "70" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Trp33*)" "1" "" "0000789860" "00025402" "70" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "4" "" "0000789861" "00025402" "70" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "2" "" "0000789862" "00025402" "70" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "4" "" "0000793893" "00025402" "90" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000794743" "00025402" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(?)" "p.(?)" "" "" "0000795925" "00025402" "70" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "2" "" "0000797553" "00025402" "70" "460" "0" "467" "0" "c.460_467dup" "r.(?)" "p.(Gln157Thrfs*12)" "" "" "0000797974" "00025402" "70" "434" "-2" "434" "-2" "c.434-2A>T" "r.spl" "p.(?)" "" "" "0000810877" "00025402" "30" "1776" "0" "1776" "0" "c.*1038G>A" "r.(=)" "p.(=)" "4" "" "0000810931" "00025402" "30" "-289" "0" "-289" "0" "c.-289G>A" "r.(=)" "p.(=)" "1" "" "0000812990" "00025402" "70" "188" "0" "188" "0" "c.188A>C" "r.(?)" "p.(Tyr63Ser)" "" "" "0000813853" "00025402" "70" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "" "" "0000813853" "00025298" "70" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "" "" "0000813854" "00025402" "70" "65" "0" "65" "0" "c.65T>A" "r.(?)" "p.(Leu22His)" "" "" "0000813854" "00025298" "70" "65" "0" "65" "0" "c.65T>A" "r.(?)" "p.(Leu22His)" "" "" "0000813861" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000813861" "00025298" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000814784" "00025402" "70" "253" "6" "253" "6" "c.253+6T>C" "r.spl" "p.(?)" "1i" "" "0000814784" "00025298" "70" "253" "6" "253" "6" "c.253+6T>C" "r.(=)" "p.(=)" "" "" "0000814859" "00025402" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl" "p.(?)" "" "" "0000814859" "00025298" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl?" "p.?" "" "" "0000814860" "00025402" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl" "p.(?)" "" "" "0000814860" "00025298" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl?" "p.?" "" "" "0000814861" "00025402" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl" "p.(?)" "" "" "0000814861" "00025298" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl?" "p.?" "" "" "0000814862" "00025402" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl" "p.(?)" "" "" "0000814862" "00025298" "90" "433" "1" "433" "1" "c.433+1G>A" "r.spl?" "p.?" "" "" "0000814863" "00025402" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "" "0000814863" "00025298" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "" "0000814864" "00025402" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "" "0000814864" "00025298" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "" "" "0000815555" "00025402" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "" "0000815555" "00025298" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "" "0000816182" "00025402" "50" "127" "0" "127" "0" "c.127G>A" "r.(?)" "p.(Gly43Arg)" "" "" "0000816486" "00025402" "50" "290" "0" "290" "0" "c.290T>A" "r.(?)" "p.(Ile97Asn)" "" "" "0000816815" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000816815" "00025298" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000816816" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000816816" "00025298" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "" "" "0000816893" "00025298" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "" "0000817007" "00025298" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "" "" "0000826443" "00025402" "50" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000826444" "00025402" "50" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000826445" "00025402" "50" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000826446" "00025402" "50" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000826447" "00025402" "50" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000826448" "00025402" "50" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000826449" "00025402" "50" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.?" "4" "" "0000829615" "00025402" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "" "0000829616" "00025402" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "" "0000829617" "00025402" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "" "0000829618" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000829619" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000829620" "00025402" "70" "254" "-2" "254" "-2" "c.254-2A>G" "r.spl?" "p.?" "1i" "" "0000829621" "00025402" "70" "127" "0" "127" "0" "c.127G>C" "r.(?)" "p.(Gly43Arg)" "1" "" "0000829622" "00025402" "70" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "1" "" "0000846893" "00025402" "70" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Trp33*)" "" "" "0000846893" "00025298" "70" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Trp33*)" "" "" "0000846894" "00025402" "70" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "" "" "0000846894" "00025298" "70" "359" "0" "359" "0" "c.359T>A" "r.(?)" "p.(Met120Lys)" "" "" "0000846930" "00025402" "70" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "" "" "0000846930" "00025298" "70" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "" "" "0000846931" "00025402" "70" "567" "0" "567" "0" "c.567T>G" "r.(?)" "p.(Tyr189*)" "" "" "0000846931" "00025298" "70" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176*)" "" "" "0000847441" "00025402" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(=)" "p.(=)" "1i" "" "0000847442" "00025402" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(=)" "p.(=)" "1i" "" "0000847443" "00025402" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(=)" "p.(=)" "1i" "" "0000847444" "00025402" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(=)" "p.(=)" "1i" "" "0000847445" "00025402" "90" "254" "-649" "254" "-649" "c.254-649T>G" "r.(=)" "p.(=)" "1i" "" "0000916027" "00025402" "70" "" "0" "" "0" "c.(507+1_508-1)_(*136+?)del" "r.?" "p.(Glu76Leufs*13)" "" "" "0000916424" "00025402" "50" "512" "0" "512" "0" "c.512A>G" "r.(?)" "p.(Glu171Gly)" "4" "" "0000917029" "00025298" "77" "144" "0" "144" "0" "c.144T>G" "r.(?)" "p.(Asn48Lys)" "01" "" "0000958746" "00025298" "90" "528" "0" "528" "0" "c.528T>G" "r.(?)" "p.(Tyr176Ter)" "" "" "0000958786" "00025298" "70" "118" "0" "118" "0" "c.118T>G" "r.(?)" "p.(Cys40Gly)" "" "" "0000959242" "00025298" "90" "149" "0" "152" "0" "c.149_152delinsTGTCCAAT" "r.(?)" "p.(Ser50LeufsTer12)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 482 "{{screeningid}}" "{{variantid}}" "0000011031" "0000358418" "0000156281" "0000358203" "0000156282" "0000358204" "0000156283" "0000358205" "0000166864" "0000378245" "0000166864" "0000378246" "0000166865" "0000378253" "0000166865" "0000378262" "0000166866" "0000378254" "0000166866" "0000378263" "0000166867" "0000378255" "0000166867" "0000378264" "0000166868" "0000378266" "0000166868" "0000378270" "0000166869" "0000378267" "0000166869" "0000378271" "0000166870" "0000378268" "0000166870" "0000378272" "0000166871" "0000378269" "0000166871" "0000378273" "0000166872" "0000378274" "0000166872" "0000378326" "0000166873" "0000378275" "0000166873" "0000378327" "0000166874" "0000378276" "0000166874" "0000378328" "0000166875" "0000378277" "0000166875" "0000378329" "0000166876" "0000378278" "0000166876" "0000378330" "0000166877" "0000378279" "0000166877" "0000378331" "0000166878" "0000378280" "0000166878" "0000378332" "0000166879" "0000378281" "0000166879" "0000378333" "0000166880" "0000378282" "0000166880" "0000378334" "0000166881" "0000378283" "0000166881" "0000378335" "0000166882" "0000378284" "0000166882" "0000378336" "0000166883" "0000378285" "0000166883" "0000378337" "0000166884" "0000378286" "0000166884" "0000378338" "0000166885" "0000378287" "0000166885" "0000378339" "0000166886" "0000378288" "0000166886" "0000378340" "0000166887" "0000378289" "0000166887" "0000378341" "0000166888" "0000378290" "0000166888" "0000378342" "0000166889" "0000378291" "0000166889" "0000378343" "0000166890" "0000378292" "0000166890" "0000378344" "0000166891" "0000378293" "0000166891" "0000378345" "0000166892" "0000378294" "0000166892" "0000378346" "0000166893" "0000378295" "0000166893" "0000378347" "0000166894" "0000378296" "0000166894" "0000378348" "0000166895" "0000378297" "0000166895" "0000378349" "0000166896" "0000378298" "0000166896" "0000378350" "0000166897" "0000378299" "0000166897" "0000378351" "0000166898" "0000378300" "0000166898" "0000378352" "0000166899" "0000378301" "0000166899" "0000378353" "0000166900" "0000378302" "0000166900" "0000378354" "0000166901" "0000378303" "0000166901" "0000378355" "0000166902" "0000378304" "0000166902" "0000378356" "0000166903" "0000378305" "0000166903" "0000378357" "0000166904" "0000378306" "0000166904" "0000378358" "0000166905" "0000378307" "0000166905" "0000378359" "0000166906" "0000378308" "0000166906" "0000378360" "0000166907" "0000378309" "0000166907" "0000378361" "0000166908" "0000378310" "0000166908" "0000378362" "0000166909" "0000378311" "0000166909" "0000378363" "0000166910" "0000378312" "0000166910" "0000378364" "0000166911" "0000378313" "0000166911" "0000378365" "0000166912" "0000378314" "0000166912" "0000378366" "0000166913" "0000378315" "0000166913" "0000378367" "0000166914" "0000378316" "0000166914" "0000378368" "0000166915" "0000378317" "0000166915" "0000378369" "0000166916" "0000378318" "0000166916" "0000378370" "0000166917" "0000378319" "0000166917" "0000378371" "0000166918" "0000378320" "0000166918" "0000378372" "0000166919" "0000378321" "0000166919" "0000378373" "0000166920" "0000378322" "0000166920" "0000378374" "0000166921" "0000378323" "0000166921" "0000378375" "0000166922" "0000378324" "0000166922" "0000378376" "0000166923" "0000378325" "0000166923" "0000378377" "0000166924" "0000378431" "0000166924" "0000378432" "0000166925" "0000378389" "0000166925" "0000378392" "0000166926" "0000378390" "0000166926" "0000378393" "0000166927" "0000378391" "0000166927" "0000378394" "0000166928" "0000378243" "0000166928" "0000378244" "0000166929" "0000378504" "0000166929" "0000378505" "0000166930" "0000378423" "0000166930" "0000378506" "0000166931" "0000378247" "0000166931" "0000378248" "0000166932" "0000378515" "0000166933" "0000378433" "0000166934" "0000378434" "0000166934" "0000378439" "0000166935" "0000378435" "0000166935" "0000378440" "0000166936" "0000378436" "0000166936" "0000378441" 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